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## Clinical Features
Lison et al. (1980) concluded that the urinary excretion of an odorous substance after eating asparagus is not an inborn error of metabolism as had been proposed by Allison and McWhirter (1956). Instead they suggested that the detection of the odor constitutes a specific smell hypersensitivity. Their observations on a large number of individuals indicated that those who could smell the odor in their own urine could also smell it in the urine of anyone who had eaten asparagus, whether or not that person was able to smell it himself. Thresholds for detecting the odor appeared to be bimodal in distribution, with 10% of 307 subjects tested able to smell it at high dilutions. No family studies were reported. There were no differences in the distribution of smellers and nonsmellers for this specific odor in the 3 ethnic groups of Israeli Jews studied.
Mitchell et al. (1987) stated that Nencki (1891) had shown that the odor of urine after ingestion of asparagus is due to the volatile sulfur-containing compound methanethiol, which imparts a smell similar to rotten or boiling cabbage. Mitchell et al. (1987) studied 800 volunteers and found that 43% produced odorous urine after asparagus ingestion. The characteristic was reproducible over a 12-month period and had been shown to remain with individuals for a lifetime. Several pedigrees were presented, all suggesting that the trait is inherited as an autosomal dominant.
Molecular Genetics
Using a web-based questionnaire of 4,727 commercially genotyped northern European volunteers, Eriksson et al. (2010) mapped the locus for asparagus anosmia to chromosome 1q44 in a region containing a cluster of olfactory receptor genes including OR2M7 (618509). The authors concluded that the likely causative variant was SNP rs7555310 in the OR2M7 gene, which changes a conserved valine to an alanine within the predicted transmembrane domain of the receptor. Because other SNPs occur in the same haplotype, the precise role of rs7555310 could not be confirmed. Subsequently, Markt et al. (2016) queried 6,909 individuals of European American descent with available genetic data from genomewide association studies, of whom about 60% reported asparagus anosmia. Using imputed variants from the 1000 Genomes Project, Markt et al. (2016) replicated the findings of Eriksson et al. (2010) and identified 2 additional 'probably damaging' missense SNPs in OR2M7 in strong linkage disequilibrium (rs6689553 and rs7555424) as well as one in OR2L3 (rs6658227).
Neuro \- Detection of urine asparagus odor Inheritance \- ? Autosomal dominant ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
ASPARAGUS, SPECIFIC SMELL HYPERSENSITIVITY
|
c1862460
| 28,000 |
omim
|
https://www.omim.org/entry/108390
| 2019-09-22T16:44:43 |
{"omim": ["108390"]}
|
A rare soft tissue tumor characterized by a slow-growing, usually painless, subcutaneous nodule, predominantly located in the extremities, less frequently the trunk or head and neck region. Histopathologically, the lesion is well-circumscribed, lobulated, and composed of epitheloid, ovoid, or spindle cells arranged in a nodular and often syncytial pattern, with pseudoangiomatoid spaces and a peripheral fibrous pseudocapsule with a prominent lymphoplasmacytic cuff. The tumor is most common in the first two decades of life and usually follows an indolent course, although local recurrence may occur, while metastasis is rare.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Angiomatoid fibrous histiocytoma
|
c1266127
| 28,001 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=569164
| 2021-01-23T18:11:21 |
{"mesh": ["C563181"], "synonyms": ["AFH"]}
|
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by overgrowth and macrocephaly with megalencephaly apparent at birth, global developmental delay, intellectual disability, and dysmorphic facial features (including frontal bossing, long face, sparse eyebrows, hypertelorism, downslanting palpebral fissures, and prognathism). Patients may exhibit tall stature with dolichostenomelia, arachnodactyly, kyphoscoliosis, and joint laxity, as well as neurologic manifestations, such as hypotonia, gait ataxia, or seizures. Brain imaging may show increased white matter volume, thick corpus callosum, or small cerebellum.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
|
c4310766
| 28,002 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=457359
| 2021-01-23T16:52:37 |
{"omim": ["617011"]}
|
Epidemic
The Tanganyika laughter epidemic of 1962 was an outbreak of mass hysteria – or mass psychogenic illness (MPI) – rumored to have occurred in or near the village of Kashasha on the western coast of Lake Victoria in Tanganyika (which, once united with Zanzibar, became the modern nation of Tanzania) near the border with Uganda.[1]
## Contents
* 1 History
* 2 Causes
* 3 See also
* 4 References
* 5 External links
## History[edit]
The laughter epidemic began on January 30, 1962, at a mission-run boarding school for girls in Kashasha. It started with three girls and spread throughout the school, affecting 95 of the 159 pupils, aged 12–18.[2][3] Symptoms lasted from a few hours to 16 days. The teaching staff were unaffected and reported that students were unable to concentrate on their lessons. The school closed on March 18.[4]
The epidemic spread to Nshamba, a village where several of the girls lived.[4] In April and May, 217 mostly young villagers had laughing attacks. The Kashasha school reopened on May 21, and reclosed at the end of June. Earlier that month, the laughing epidemic spread to Ramashenye girls' middle school, near Bukoba, affecting 48 girls.[2]
The Kashasha school was sued for allowing the children and their parents to transmit it to the surrounding area. Other schools, Kashasha itself, and another village were affected to some degree.[4] Eighteen months after it started, the phenomenon died off. The laughter reports were widely accompanied by descriptions of fainting, flatulence, respiratory problems, rashes, crying and screaming.[5] In all, 14 schools were shut down and 1000 people were affected.[6]
## Causes[edit]
Christian F. Hempelmann, then of Purdue University, has theorized that the episode was stress-induced. In 1962, Tanganyika had just won its independence, he said, and students had reported feeling stressed because of higher expectations by teachers and parents. MPI, he says, usually occurs in people without a lot of power. "MPI is a last resort for people of a low status. It's an easy way for them to express that something is wrong."[5][7]
Sociologist Robert Bartholomew and psychiatrist Simon Wessely both put forward a culture-specific epidemic hysteria hypothesis, pointing out that the occurrences in 1960s Africa were prevalent in missionary schools and Tanganyikan society was ruled by strict traditional elders, so the likelihood is the hysteria was a manifestation of the cultural dissonance between the “traditional conservatism” at home and the new ideas challenging those beliefs in school, which they termed ‘conversion reactions’.[8]
## See also[edit]
* List of mass hysteria cases
* Dancing mania
## References[edit]
1. ^ Jeffries, Stuart (November 21, 2007). "The outbreak of hysteria that's no fun at all". The Guardian. Guardian News and Media Limited.
2. ^ a b Provine, Robert R. (January–February 1996). "Laughter". American Scientist. 84 (1): 38–47. Archived from the original on January 19, 2009.
3. ^ Rankin, A.M.; Philip, P.J. (May 1963). "An epidemic of laughing in the Bukoba district of Tanganyika". Central African Journal of Medicine. 9: 167–170. PMID 13973013.
4. ^ a b c Radiolab (2008-02-25). "Laughter". WNYC Studios. Retrieved 2019-06-16.
5. ^ a b Sebastian, Simone (July 29, 2003). "Examining 1962's 'laughter epidemic'". Chicago Tribune. Archived from the original on September 25, 2012.
6. ^ Bartholomew, Robert E. (2001). Little Green Men, Meowing Nuns and Head-Hunting Panics: A Study of Mass Psychogenic Illness and Social Delusion. Jefferson, North Carolina: Macfarland & Company. p. 52. ISBN 0-7864-0997-5.
7. ^ Hempelmann, Christian F. (2007). "The Epic Tanganyika Laughter Epidemic Revisited". Humor: International Journal of Humor Research. 20 (1): 49–71. doi:10.1515/HUMOR.2007.003.
8. ^ Bartholomew, Robert; Evans, Hilary (2014). Outbreak! The Encyclopedia of Extraordinary Social Behavior. McFarland & Company. ISBN 0786478888.
## External links[edit]
* "Information on MPI". Archived from the original on 20 June 2010.
* Article from CBC News
* WNYC radio program with a section discussing the epidemic
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Tanganyika laughter epidemic
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None
| 28,003 |
wikipedia
|
https://en.wikipedia.org/wiki/Tanganyika_laughter_epidemic
| 2021-01-18T18:34:41 |
{"wikidata": ["Q1582992"]}
|
Short QT syndrome
Schematic representation of normal ECG trace (sinus rhythm), with waves, segments, and intervals labeled
SpecialtyCardiology
SymptomsPassing out, sudden cardiac death[1]
CausesGenetic
Diagnostic methodElectrocardiogram (ECG)[1]
TreatmentMedication, implantable cardioverter defibrillator (ICD)[1]
MedicationQuinidine, Flecainide[1]
PrognosisRisk of sudden cardiac death 0.8% per year[2]
Frequency<300 cases reported worldwide[1]
Short QT syndrome (SQT) is a very rare genetic disease of the electrical system of the heart, and is associated with an increased risk of abnormal heart rhythms and sudden cardiac death.[1] The syndrome gets its name from a characteristic feature seen on an electrocardiogram (ECG) – a shortening of the QT interval. It is caused by mutations in genes encoding ion channels that shorten the cardiac action potential, and appears to be inherited in an autosomal dominant pattern.[1] The condition is diagnosed using a 12-lead ECG.[2] Short QT syndrome can be treated using an implantable cardioverter-defibrillator or medications including quinidine.[3] Short QT syndrome was first described in 2000,[4] and the first genetic mutation associated with the condition was identified in 2004.[5]
## Contents
* 1 Signs and symptoms
* 2 Cause
* 2.1 Mechanism
* 3 Diagnosis
* 3.1 12-lead ECG
* 3.2 Other features supporting diagnosis
* 4 Treatment
* 4.1 Implantable cardioverter-defibrillator
* 4.2 Medication
* 5 Epidemiology
* 6 Prognosis
* 7 History
* 8 See also
* 9 References
* 10 External links
## Signs and symptoms[edit]
Those affected by short QT syndrome (SQT) have an increased risk of developing abnormal heart rhythms.[3] These abnormal heart rhythms often occur at a young age. They may take relatively benign forms such as atrial fibrillation, leading to symptoms of palpitations, breathlessness, or fatigue.[3] Accordingly, atrial fibrillation presenting in a newborn should raise the suspicion of short QT syndrome.[1] In addition, far more dangerous heart rhythm disturbances such as ventricular fibrillation can also occur in those with short QT syndrome, leading to blackouts or even sudden death.[3] More than a third of those with short QT present with ventricular arrhythmias or sudden cardiac death, while one in five cases are detected during family screening, and one in five cases are found incidentally after an electrocardiogram (ECG) has been recorded for another reason.[1]
If someone with short QT syndrome is examined while their heart is beating in an abnormal rhythm such as atrial fibrillation, this can be detected by feeling their pulse. No abnormal signs will usually be found when examining someone with short QT syndrome while their heart is beating in its normal or sinus rhythm.
## Cause[edit]
Short QT syndrome is a genetic disorder caused by mutations in genes responsible for producing certain ion channels within heart cells. It appears to be inherited in an autosomal dominant pattern.[1] Some genetic variants cause an increased flow of potassium out of the cell, while others reduce the flow of calcium into the cell.[1] The common effect of all these variants is to shorten the cardiac action potential, reflected on the surface ECG as a shortening of the QT interval. A list of genes in which variants have been associated with short QT syndrome can be found in the table below.
Type OMIM Gene Notes
SQT1 609620 KCNH2 Also known as hERG, encodes the potassium channel KV11.1 responsible for the delayed rectifier potassium current IKr [1]
SQT2 609621 KCNQ1 Encodes the potassium channel responsible for the delayed rectifier potassium current IKs [1]
SQT3 609622 KCNJ2 Encodes the potassium channel Kir2.1 responsible for the inward rectifying potassium current IK1 [1]
SQT4 114205 CACNA1C Encodes the alpha subunit of the L-type calcium channel carrying ICa(L) [1]
SQT5 114204 CACNA2D1 Encodes the alpha2/delta subunit of the L-type calcium channel carrying ICa(L) [1]
SQT6 106195 SLC4A3 Encodes a bicarbonate / chloride exchanger [1]
### Mechanism[edit]
The overall effect of each of the genetic variants associated with short QT syndrome is to shorten the cardiac action potential, which in turn increases the risk of developing abnormal heart rhythms including atrial fibrillation and ventricular fibrillation.[2] During the normal rhythm of the heart, or sinus rhythm, smooth waves of electrical activity pass regularly through the cardiac muscle. In contrast, during atrial or ventricular fibrillation, waves of electrical activation spiral through the cardiac muscle chaotically in a mass of disorganised, broken wavelets. The consequence of fibrillation is that the chambers of the heart affected by the disorganised electrical activation lose their pumping ability – fibrillation of the cardiac atria in atrial fibrillation leads to an irregular pulse, and fibrillation of the cardiac ventricles in ventricular fibrillation renders the heart unable to pump blood at all.[6]
There are several possible mechanisms by which short action potentials might promote fibrillation. The link between these mechanisms is how the duration of the action potential influences how frequently a heart muscle cell can be excited. A shorter action potential generally allow a heart muscle cell to be excited more frequently – the refractory period is shorter.[6]
The first mechanism, referred to as the dispersion of repolarisation, occurs because the action potential shortening seen in this condition occurs to a greater extent in some layers of the heart wall than in others.[7] This means that at certain points in the cardiac cycle, some layers of the heart wall will have fully repolarised, and are therefore ready to contract again, while other regions are only partially repolarised and therefore are still within their refractory period and not yet able to be re-excited. If a triggering impulse arrives at this critical point in the cardiac cycle, the wavefront of electrical activation will conduct in some regions but block in others, potentially leading to wavebreak and re-entrant arrhythmias.[8]
The second mechanism relates to the increased number of fibrillatory wavelets that can simultaneously exist if the action potential decreases, in a concept known as the arrhythmia wavelength.[6] During fibrillation, the chaotic wavelets rotate, or re-enter, within the muscle of the heart, continually extinguishing and reforming. The volume of tissue in which each wavelet can complete a re-entrant circuit is dependent on the refractory period of the tissue and the speed at which the waves of depolarisation traverse move – the conduction velocity.[6] The product of the conduction velocity and refractory period is known as the wavelength. In tissue with a lower wavelength a wavelet can re-enter within a smaller volume of tissue. A shorter refractory period therefore allows more wavelets to exist within a given volume of tissue, reducing the chance of all wavelets simultaneously extinguishing and terminating the arrhythmia.[6]
## Diagnosis[edit]
Measurement of the QT interval using the tangent method
Short QT syndrome is diagnosed primarily using an electrocardiogram (ECG), but may also take into account the clinical history, family history, and possibly genetic testing. Whilst a diagnostic scoring system has been proposed that incorporate all of these factors (the Gollob score[9]), it is uncertain whether this score is useful for diagnosis or risk stratification,[10] and the Gollob score has not been universally accepted by international consensus guidelines.[11][12] There continues to be uncertainty regarding the precise QT interval cutoff that is should be used for diagnosis.[12]
### 12-lead ECG[edit]
Precordial leads of a 12-lead ECG from a person with short QT syndrome
The mainstay of diagnosis of short QT syndrome is the 12-lead ECG. The precise QT duration used to diagnose the condition remains controversial with consensus guidelines giving cutoffs varying from 330 ms,[11] 340 ms or even 360 ms when other clinical, familial, or genetic factors are present.[11][12] The QT interval normally varies with heart rate, but this variation occurs to a lesser extent in those with short QT syndrome.[1] It is therefore recommended that the QT interval is assessed at heart rates close to 60 beats per minute.[1] Other features that may be seen on the ECG in short QT syndrome include tall, peaked T-waves and PR segment depression.[10]
### Other features supporting diagnosis[edit]
Other features that support a diagnosis of short QT syndrome include: a history of ventricular fibrillation]or ventricular tachycardia despite an apparently structurally normal heart; a family history of confirmed short QT syndrome; a family history of sudden cardiac death aged <40 years; and identification of a genetic mutation consistent with short QT syndrome.[12][11]
Invasive electrophysiological studies, in which wires are passed into the heart to stimulate and record the heart's electrical impulses, are not currently recommended for diagnosing short QT syndrome or predicting the risk of sudden cardiac death.[11][12]
## Treatment[edit]
The treatment for short QT syndrome is aimed at preventing abnormal heart rhythms and reducing the risk of sudden cardiac death. It has been difficult to experimentally test potential treatments as the condition is very rare, so the evidence for treatment effectiveness comes largely from consensus opinion.[1] In addition to treating the person identified as having the condition, screening of family members may be recommended.
### Implantable cardioverter-defibrillator[edit]
Labelled chest X-ray of a patient with an implantable cardioverter-defibrillator.
In those with short QT syndrome who have already experienced a life-threatening abnormal heart rhythm such as ventricular fibrillation, an implantable cardioverter-defibrillator (ICD) may be recommended to reduce the chance of sudden death.[3] This device is implanted under the skin and can continually monitor the heart rhythm. If the device detects a dangerous heart rhythm disturbance it can deliver a small electric shock with the aim of restoring a rhythm. Implanting an ICD in someone with short QT syndrome who has not yet experienced a life-threatening arrhythmia is more controversial but may be considered.[1][11]
### Medication[edit]
Medication aimed at correcting the ECG abnormality – the shortened QT interval – has been tried. Quinidine, a class Ia antiarrhythmic agent, has been shown to partially correct the QT interval and make the heart more resilient to artificially-induced abnormal heart rhythms,[3][13] although it is still uncertain at present whether this translates to a lower risk of sudden death.[1][14] Sotalol, another antiarrhythmic, may prolong the QT in some subtypes of short QT syndrome.[11] Other medications including beta blockers, flecainide, and amiodarone have been tried, but at present there is little evidence to support their use.[1]
Drugs can also be used to treat the less dangerous abnormal heart rhythm that is also associated with short QT – atrial fibrillation. Propafenone, a class 1c antiarrhythmic, may be helpful in those with short QT to prevent atrial fibrillation.[7] Those who develop atrial fibrillation may also require medication to decrease blood clotting in order to reduce the risk of stroke.[15]
## Epidemiology[edit]
Short QT syndrome is a very rare condition with, as of 2018, fewer than 300 cases described in the medical literature.[1] As a genetic syndrome, those affected are born with the condition. Symptoms can occur in newborns, potentially presenting as sudden infant death syndrome.[2] Males and females are equally likely to be affected, and have a similar risk of sudden cardiac death.[2]
## Prognosis[edit]
The rarity of short QT syndrome makes calculating prognosis accurately difficult. The risk of sudden cardiac death has been estimated at 0.8% per year,[2] leading to a cumulative risk of sudden cardiac death of 41% by the age of 40.[1] A previous history of cardiac arrest predicts a higher likelihood of further dangerous arrhythmias.[1] Some have suggested that those with the shortest QT intervals may have a higher risk of arrhythmias, but this view has not been supported by all.[1] The findings from invasive electrophysiological studies do not predict an individual with short QT syndrome's risk of cardiac arrest.[1]
## History[edit]
The first report of short QT syndrome to be published was in 2000, describing a family with short QT intervals on the 12-lead ECG, atrial fibrillation occurring at a young age, and an unrelated patient who suffered sudden cardiac death associated with a short QT interval.[2][4] The association between short QT and sudden cardiac death was described in 2003,[16] and the first gene associated with the condition was identified in 2004.[5] Criteria for diagnosing Short QT syndrome were proposed in 2011.[9]
## See also[edit]
* Channelopathy
* Long QT syndrome
* Brugada syndrome
* Catecholaminergic polymorphic ventricular tachycardia
## References[edit]
1. ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa ab Bjerregaard P (August 2018). "Diagnosis and management of short QT syndrome". Heart Rhythm. 15 (8): 1261–1267. doi:10.1016/j.hrthm.2018.02.034. PMID 29501667.
2. ^ a b c d e f g Bjerregaard, Preben; Gussak, Ihor (2013), "Short QT Syndrome", Electrical Diseases of the Heart, Springer London, pp. 569–581, doi:10.1007/978-1-4471-4881-4_33, ISBN 9781447148807
3. ^ a b c d e f Schimpf R, Wolpert C, Gaita F, Giustetto C, Borggrefe M (August 2005). "Short QT syndrome". Cardiovascular Research. 67 (3): 357–66. doi:10.1016/j.cardiores.2005.03.026. PMID 15890322.
4. ^ a b Gussak, I.; Brugada, P.; Brugada, J.; Wright, R. S.; Kopecky, S. L.; Chaitman, B. R.; Bjerregaard, P. (2000). "Idiopathic short QT interval: a new clinical syndrome?". Cardiology. 94 (2): 99–102. doi:10.1159/000047299. ISSN 0008-6312. PMID 11173780. S2CID 7911999.
5. ^ a b Brugada, Ramon; Hong, Kui; Dumaine, Robert; Cordeiro, Jonathan; Gaita, Fiorenzo; Borggrefe, Martin; Menendez, Teresa M.; Brugada, Josep; Pollevick, Guido D. (2004-01-06). "Sudden death associated with short-QT syndrome linked to mutations in HERG". Circulation. 109 (1): 30–35. doi:10.1161/01.CIR.0000109482.92774.3A. ISSN 1524-4539. PMID 14676148.
6. ^ a b c d e Antzelevich, Charles; Burashnikov, Alexander (2013), "Mechanisms of Cardiac Arrhythmia", Electrical Diseases of the Heart, Springer London, pp. 93–128, doi:10.1007/978-1-4471-4881-4_33, ISBN 9781447148807
7. ^ a b Enriquez, Andres; Antzelevitch, Charles; Bismah, Verdah; Baranchuk, Adrian (September 2016). "Atrial fibrillation in inherited cardiac channelopathies: From mechanisms to management". Heart Rhythm. 13 (9): 1878–1884. doi:10.1016/j.hrthm.2016.06.008. ISSN 1556-3871. PMID 27291509.
8. ^ Schimpf, Rainer; Wolpert, Christian; Gaita, Fiorenzo; Giustetto, Carla; Borggrefe, Martin (2005-08-15). "Short QT syndrome". Cardiovascular Research. 67 (3): 357–366. doi:10.1016/j.cardiores.2005.03.026. ISSN 0008-6363. PMID 15890322.
9. ^ a b Gollob MH, Redpath CJ, Roberts JD (February 2011). "The short QT syndrome: proposed diagnostic criteria". Journal of the American College of Cardiology. 57 (7): 802–12. doi:10.1016/j.jacc.2010.09.048. PMID 21310316.
10. ^ a b Rudic, Boris; Schimpf, Rainer; Borggrefe, Martin (August 2014). "Short QT Syndrome - Review of Diagnosis and Treatment". Arrhythmia & Electrophysiology Review. 3 (2): 76–79. doi:10.15420/aer.2014.3.2.76. ISSN 2050-3369. PMC 4711567. PMID 26835070.
11. ^ a b c d e f g Priori SG, Wilde AA, Horie M, Cho Y, Behr ER, Berul C, et al. (December 2013). "HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes: document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES, and AEPC in June 2013". Heart Rhythm. 10 (12): 1932–63. doi:10.1016/j.hrthm.2013.05.014. PMID 24011539.
12. ^ a b c d e Priori SG, Blomström-Lundqvist C, Mazzanti A, Blom N, Borggrefe M, Camm J, et al. (November 2015). "2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: The Task Force for the Management of Patients with Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death of the European Society of Cardiology (ESC)Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC)". Europace. 17 (11): 1601–87. doi:10.1093/europace/euv319. PMID 26318695.
13. ^ Gaita F, Giustetto C, Bianchi F, Schimpf R, Haissaguerre M, Calò L, et al. (April 2004). "Short QT syndrome: pharmacological treatment". Journal of the American College of Cardiology. 43 (8): 1494–9. doi:10.1016/j.jacc.2004.02.034. PMID 15093889.
14. ^ Maltret A, Wiener-Vacher S, Denis C, Extramiana F, Morisseau-Durand MP, Fressart V, et al. (February 2014). "Type 2 short QT syndrome and vestibular dysfunction: mirror of the Jervell and Lange-Nielsen syndrome?". International Journal of Cardiology. 171 (2): 291–3. doi:10.1016/j.ijcard.2013.11.078. PMID 24380499.
15. ^ January CT, Wann LS, Alpert JS, Calkins H, Cigarroa JE, Cleveland JC, et al. (December 2014). "2014 AHA/ACC/HRS guideline for the management of patients with atrial fibrillation: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines and the Heart Rhythm Society". Journal of the American College of Cardiology. 64 (21): e1–76. doi:10.1016/j.jacc.2014.03.022. PMID 24685669.
16. ^ Gaita, Fiorenzo; Giustetto, Carla; Bianchi, Francesca; Wolpert, Christian; Schimpf, Rainer; Riccardi, Riccardo; Grossi, Stefano; Richiardi, Elena; Borggrefe, Martin (2003-08-26). "Short QT Syndrome: a familial cause of sudden death". Circulation. 108 (8): 965–970. doi:10.1161/01.CIR.0000085071.28695.C4. ISSN 1524-4539. PMID 12925462.
## External links[edit]
* "Short QT syndrome". Genetics Home Reference. U.S. National Library of Medicine.
Classification
D
* ICD-10: R94.3
* MeSH: C580439
* DiseasesDB: 11105
* v
* t
* e
Cardiovascular disease (heart)
Ischaemic
Coronary disease
* Coronary artery disease (CAD)
* Coronary artery aneurysm
* Spontaneous coronary artery dissection (SCAD)
* Coronary thrombosis
* Coronary vasospasm
* Myocardial bridge
Active ischemia
* Angina pectoris
* Prinzmetal's angina
* Stable angina
* Acute coronary syndrome
* Myocardial infarction
* Unstable angina
Sequelae
* hours
* Hibernating myocardium
* Myocardial stunning
* days
* Myocardial rupture
* weeks
* Aneurysm of heart / Ventricular aneurysm
* Dressler syndrome
Layers
Pericardium
* Pericarditis
* Acute
* Chronic / Constrictive
* Pericardial effusion
* Cardiac tamponade
* Hemopericardium
Myocardium
* Myocarditis
* Chagas disease
* Cardiomyopathy
* Dilated
* Alcoholic
* Hypertrophic
* Tachycardia-induced
* Restrictive
* Loeffler endocarditis
* Cardiac amyloidosis
* Endocardial fibroelastosis
* Arrhythmogenic right ventricular dysplasia
Endocardium /
valves
Endocarditis
* infective endocarditis
* Subacute bacterial endocarditis
* non-infective endocarditis
* Libman–Sacks endocarditis
* Nonbacterial thrombotic endocarditis
Valves
* mitral
* regurgitation
* prolapse
* stenosis
* aortic
* stenosis
* insufficiency
* tricuspid
* stenosis
* insufficiency
* pulmonary
* stenosis
* insufficiency
Conduction /
arrhythmia
Bradycardia
* Sinus bradycardia
* Sick sinus syndrome
* Heart block: Sinoatrial
* AV
* 1°
* 2°
* 3°
* Intraventricular
* Bundle branch block
* Right
* Left
* Left anterior fascicle
* Left posterior fascicle
* Bifascicular
* Trifascicular
* Adams–Stokes syndrome
Tachycardia
(paroxysmal and sinus)
Supraventricular
* Atrial
* Multifocal
* Junctional
* AV nodal reentrant
* Junctional ectopic
Ventricular
* Accelerated idioventricular rhythm
* Catecholaminergic polymorphic
* Torsades de pointes
Premature contraction
* Atrial
* Junctional
* Ventricular
Pre-excitation syndrome
* Lown–Ganong–Levine
* Wolff–Parkinson–White
Flutter / fibrillation
* Atrial flutter
* Ventricular flutter
* Atrial fibrillation
* Familial
* Ventricular fibrillation
Pacemaker
* Ectopic pacemaker / Ectopic beat
* Multifocal atrial tachycardia
* Pacemaker syndrome
* Parasystole
* Wandering atrial pacemaker
Long QT syndrome
* Andersen–Tawil
* Jervell and Lange-Nielsen
* Romano–Ward
Cardiac arrest
* Sudden cardiac death
* Asystole
* Pulseless electrical activity
* Sinoatrial arrest
Other / ungrouped
* hexaxial reference system
* Right axis deviation
* Left axis deviation
* QT
* Short QT syndrome
* T
* T wave alternans
* ST
* Osborn wave
* ST elevation
* ST depression
* Strain pattern
Cardiomegaly
* Ventricular hypertrophy
* Left
* Right / Cor pulmonale
* Atrial enlargement
* Left
* Right
* Athletic heart syndrome
Other
* Cardiac fibrosis
* Heart failure
* Diastolic heart failure
* Cardiac asthma
* Rheumatic fever
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Short QT syndrome
|
c2348199
| 28,004 |
wikipedia
|
https://en.wikipedia.org/wiki/Short_QT_syndrome
| 2021-01-18T18:57:27 |
{"mesh": ["C580439"], "umls": ["C2348199"], "icd-10": ["R94.3"], "orphanet": ["51083"], "wikidata": ["Q1484058"]}
|
Not to be confused with bronchiolitis.
Inflammation of the large airways in the lungs
Bronchitis
Figure A shows the location of the lungs and bronchial tubes. Figure B is an enlarged view of a normal bronchial tube. Figure C is an enlarged view of a bronchial tube with bronchitis.
Pronunciation
* /brɒŋˈkaɪtɪs/
SpecialtyInfectious disease, pulmonology
SymptomsCoughing up mucus, wheezing, shortness of breath, chest discomfort[1]
TypesAcute, chronic[1]
FrequencyAcute: ~5% of people a year[2][3]
Chronic: ~5% of people[3]
Bronchitis is inflammation of the bronchi (large and medium-sized airways) in the lungs that causes coughing.[1] Symptoms include coughing up sputum, wheezing, shortness of breath, and chest pain.[1] Bronchitis can be acute or chronic.[1]
Acute bronchitis usually has a cough that lasts around three weeks,[4] and is also known as a chest cold.[5] In more than 90% of cases the cause is a viral infection.[4] These viruses may be spread through the air when people cough or by direct contact.[6] A small number of cases are caused by a bacterial infection such as Mycoplasma pneumoniae or Bordetella pertussis.[4] Risk factors include exposure to tobacco smoke, dust, and other air pollution.[6] Treatment of acute bronchitis typically involves rest, paracetamol (acetaminophen), and nonsteroidal anti-inflammatory drugs (NSAIDs) to help with the fever.[7][8]
Chronic bronchitis is defined as a productive cough – one that produces sputum – that lasts for three months or more per year for at least two years.[9][10] Many people with chronic bronchitis have chronic obstructive pulmonary disease (COPD).[11] Tobacco smoking is the most common cause, with a number of other factors such as air pollution and genetics playing a smaller role.[12] Treatments include quitting smoking, vaccinations, rehabilitation, and often inhaled bronchodilators and steroids.[13] Some people may benefit from long-term oxygen therapy.[13]
Acute bronchitis is one of the most common diseases.[7][14] About 5% of adults are affected and about 6% of children have at least one episode a year.[2][15] Acute bronchitis is the most common type of bronchitis.[5] In the United States, in 2018, 9.3 million people were diagnosed with chronic bronchitis.[16][17]
## Contents
* 1 Acute bronchitis
* 1.1 Cause
* 1.2 Diagnosis
* 1.3 Treatment
* 1.4 Epidemiology
* 2 Chronic bronchitis
* 2.1 Cause
* 2.2 Treatment
* 2.3 Epidemiology
* 3 History
* 4 Eosinophilic bronchitis
* 5 Protracted bacterial bronchitis
* 6 Plastic bronchitis
* 7 Aspergillus bronchitis
* 8 References
* 9 External links
## Acute bronchitis[edit]
Main article: Acute bronchitis
Bronchitis
Acute bronchitis, also known as a chest cold, is short term inflammation of the bronchi of the lungs.[4][6] The most common symptom is a cough, that may or may not produce sputum.[4][18] Other symptoms may include coughing up mucus, wheezing, shortness of breath, fever, and chest discomfort.[6] Fever when present is mild.[19] The infection may last from a few to ten days.[6] The cough may persist for several weeks afterwards, with the total duration of symptoms usually around three weeks.[4][6] Symptoms may last for up to six weeks.[7]
### Cause[edit]
In more than 90% of cases, the cause is a viral infection.[4] These viruses may spread through the air when people cough or by direct contact.[6] Risk factors include exposure to tobacco smoke, dust, and other air pollutants.[6] A small number of cases are due to bacteria such as Mycoplasma pneumoniae or Bordetella pertussis.[4]
### Diagnosis[edit]
Diagnosis is typically based on a person's signs and symptoms.[19] The color of the sputum does not indicate if the infection is viral or bacterial.[4] Determining the underlying organism is usually not required.[4] Other causes of similar symptoms include asthma, pneumonia, bronchiolitis, bronchiectasis, and COPD.[2][4] A chest X-ray may be useful to detect pneumonia.[4]
Another common sign of bronchitis is a cough which lasts ten days to three weeks. If the cough lasts for longer than a month, it may become chronic bronchitis. In addition, a fever may be present. Acute bronchitis is normally caused by a viral infection. Typically, these infections are rhinovirus, parainfluenza, or influenza. No specific testing is normally needed in order to diagnose acute bronchitis.[19]
### Treatment[edit]
One form of prevention is to avoid smoking and other lung irritants.[20] Frequent hand washing may also be protective.[20] Treatment for acute bronchitis usually involves rest, paracetamol (acetaminophen), and NSAIDs to help with the fever.[7][8] Cough medicine has little support for its use, and is not recommended in children under the age of six.[4][21] There is tentative evidence that salbutamol may be useful in treating wheezing; however, it may result in nervousness and tremors.[4][22] Antibiotics should generally not be used.[18] An exception is when acute bronchitis is due to pertussis.[4] Tentative evidence supports honey and pelargonium to help with symptoms.[4] Getting plenty of rest and drinking enough fluids are often recommended as well.[23] Chinese medicinal herbs are of unclear effect.[24]
### Epidemiology[edit]
Acute bronchitis is one of the most common diseases.[7][14] About 5% of adults are affected, and about 6% of children have at least one episode a year.[2][15] It occurs more often in the winter.[2] More than 10 million people in the US visit a doctor each year for this condition, with about 70% receiving antibiotics which are mostly not needed.[7] There are efforts to decrease the use of antibiotics in acute bronchitis.[14] Acute bronchitis is the most common type of bronchitis.[5]
## Chronic bronchitis[edit]
See also: Chronic obstructive pulmonary disease
Chronic bronchitis is defined as a productive cough that lasts for three months or more per year for at least two years.[1][10] When this occurs together with decreased airflow it is known as chronic obstructive pulmonary disease (COPD).[25][26] Many people with chronic bronchitis have COPD however, most people with COPD do not have chronic bronchitis.[10][27] Estimates of the number of people with COPD who have chronic bronchitis are 7 to 40%.[28][29] Estimates of the number of people who smoke and have chronic bronchitis who also have COPD is 60%.[30]
The term "chronic bronchitis" was used in previous definitions of COPD but is no longer included in the definition.[10][31][32] The term is still used clinically.[33] While both chronic bronchitis and emphysema are often associated with COPD, neither is needed to make the diagnosis.[33] A Chinese consensus commented on symptomatic types of COPD that include chronic bronchitis and with frequent exacerbations.[34]
Chronic bronchitis is a respiratory disease marked by overproduction of mucus and mucins.[9][35] The excess mucus is produced by goblet cells and enlarged submucosal glands in response to long-term irritation.[36] The mucous glands in the submucosa secrete more than the goblet cells.[37] Mucins thicken mucus, and their concentration has been found to be high in cases of chronic bronchitis, and also to correlate with the severity of the disease.[38] Excess mucus can narrow the airways, thereby limiting airflow and accelerating the decline in lung function, and result in COPD.[34][39] Excess mucus shows itself as a chronic productive cough and its severity and volume of sputum can fluctuate in periods of acute exacerbations.[34] In COPD, those with the chronic bronchitic phenotype with associated chronic excess mucus, experience a worse quality of life than those without.[34]
The increased secretions are initially cleared by coughing.[35] The cough is often worse soon after awakening, and the sputum produced may have a yellow or green color and may be streaked with specks of blood.[40] In the early stages, a cough can maintain mucus clearance. However, with continued excessive secretion, mucus clearance is impaired and when the airways become obstructed a cough becomes ineffective.[41] Effective mucociliary clearance depends on airway hydration, ciliary beating, and the rates of mucin secretion. Each of these factors is impaired in chronic bronchitis.[42] Chronic bronchitis can lead to a higher number of exacerbations and a faster decline in lung function.[39][43] The ICD-11 lists chronic bronchitis with emphysema (emphysematous bronchitis) as a "certain specified COPD".[44][45]
### Cause[edit]
Most cases of chronic bronchitis are caused by tobacco smoking.[46][47] Chronic bronchitis in young adults who smoke is associated with a greater chance of developing COPD.[48] There is an association between smoking cannabis and chronic bronchitis.[49][50] In addition, chronic inhalation of air pollution, or irritating fumes or dust from hazardous exposures in occupations such as coal mining, grain handling, textile manufacturing, livestock farming,[51] and metal moulding may also be a risk factor for the development of chronic bronchitis.[52][53][54] Bronchitis caused in this way is often referred to as industrial bronchitis, or occupational bronchitis.[55] Rarely genetic factors also play a role.[56]
Air quality can also affect the respiratory system with higher levels of nitrogen dioxide and sulfur dioxide contributing to bronchial symptoms. Sulfur dioxide can cause inflammation which can aggravate chronic bronchitis and make infections more likely.[57]
Air pollution in the workplace is the cause of several non-communicable diseases (NCDs) including chronic bronchitis.[58]
### Treatment[edit]
Decline in lung function in chronic bronchitis may be slowed by stopping smoking.[59][60] Chronic bronchitis may be treated with a number of medications and occasionally oxygen therapy.[1] Pulmonary rehabilitation may also be used.[1]
A distinction has been made between exacerbations (sudden worsenings) of chronic bronchitis, and otherwise stable chronic bronchitis. Stable chronic bronchitis can be defined as the normal definition of chronic bronchitis, plus the absence of an acute exacerbation in the previous four weeks.[43] A Cochrane review found that mucolytics in chronic bronchitis may slightly decrease the chance of developing an exacerbation.[61] The mucolytic guaifenesin is a safe and effective treatment for stable chronic bronchitis. This has an advantage in that it is available as an extended use tablet which lasts for twelve hours.[62] Another mucolytic fudosteine may also be used.[34] In those with chronic bronchitis and severe COPD, the phosphodiesterase-4 inhibitor roflumilast may decrease significant exacerbations.[36]
### Epidemiology[edit]
Chronic bronchitis affects about 3.4% to 22% of the general population.[citation needed] Individuals over 45 years of age, smokers, those that live or work in areas with high air pollution, and anybody with asthma all have a higher risk of developing chronic bronchitis.[63] This wide range is due to the different definitions of chronic bronchitis that can be diagnosed based on signs and symptoms or the clinical diagnosis of the disorder. Chronic bronchitis tends to affect men more often than women. While the primary risk factor for chronic bronchitis is smoking, there is still a 4%-22% chance that never smokers can get chronic bronchitis. This might suggest other risk factors such as the inhalation of fuels, dusts, fumes and genetic factor.[39] In the United States, in 2016, 8.6 million people were diagnosed with chronic bronchitis, and there were 518 reported deaths. Per 100,000 of population the death rate of chronic bronchitis was 0.2.[16]
## History[edit]
The condition of bronchitis has been recognised for many centuries, in several different cultures including the Ancient Greek, Chinese, and Indian, with the presence of excess phlegm and cough noted in recognition of the same condition.[64]
In Britain in 1808, a physician Charles Badham was the first person to describe the condition and name the acute form as acute bronchitis. This was written of in a book entitled Inflammatory conditions of the bronchia. In this book Badham distinguished three forms of bronchitis including acute and chronic. A second edition of this book was renamed An Essay on Bronchitis and published in 1814.[64] Bradham used the term catarrh to refer to the cardinal symptoms of chronic cough and mucus hypersecretion of chronic bronchitis, and described chronic bronchitis as a disabling disorder.[65]
In 1901 an article was published on the treatment of chronic bronchitis in the elderly. The symptoms described have remained unchanged. The cause was thought to be brought on by dampness, cold weather, and foggy conditions, and treatments were aimed towards various cough mixtures, respiratory stimulants, and tonics. It was noted that something other than the weather was thought to be at play.[66] Exacerbations of the condition were also described at this time. Another physician Harry Campbell was referred to who had written in the British Medical Journal a week before. Campbell had suggested that the cause of chronic bronchitis was due to toxic substances, and recommended pure air, simple food, and exercise to remove them from the body.[66]
A joint research programme was undertaken in Chicago and London from 1951 to 1953 in which the clinical features of one thousand cases of chronic bronchitis were detailed. The findings were published in the Lancet in 1953.[67] It was stated that since its introduction by Badham, chronic bronchitis had become an increasingly popular diagnosis. The study had looked at various associations such as the weather, conditions at home, and at work, age of onset, childhood illnesses, smoking habits, and breathlessness. It was concluded that chronic bronchitis invariably led to emphysema, particularly when the bronchitis had persisted for a long time.[67]
In 1957 it was noted that at the time there were many investigations being carried out into chronic bronchitis and emphysema in general, and among industrial workers exposed to dust.[68] Excerpts were published dating from 1864 in which Charles Parsons had noted the occurring consequence of the development of emphysema from bronchitis. This was seen to be not always applicable. His findings were in association with his studies on chronic bronchitis among pottery workers.[68]
A CIBA (now Novartis) meeting in 1959, and a meeting of the American Thoracic Society in 1962, defined chronic bronchitis as a component of COPD, in the terms that have not changed.[65][69]
## Eosinophilic bronchitis[edit]
Main article: Eosinophilic bronchitis
Eosinophilic bronchitis is a chronic dry cough, defined by the presence of an increased number of a type of white blood cell known as eosinophils. It has a normal finding on X-ray and has no airflow limitation.[70]
## Protracted bacterial bronchitis[edit]
Protracted bacterial bronchitis in children, is defined as a chronic productive cough with a positive bronchoalveolar lavage that resolves with antibiotics.[71][72] Protracted bacterial bronchitis is usually caused by Streptococcus pneumoniae, non-typable Haemophilus influenzae, or Moraxella catarrhalis.[72] Protracted bacterial bronchitis (lasting more than 4 weeks) in children may be helped by antibiotics.[73]
## Plastic bronchitis[edit]
Plastic bronchitis bronchial casts[74]
Plastic bronchitis is a rarely found condition in which thickened secretions plug the bronchi.[75][76] The plugs are rubbery or plastic-feeling (thus the name). The light-colored plugs take the branching shape of the bronchi that they fill, and are known as bronchial casts.[75] When these casts are coughed up, they are firmer in texture from typical phlegm or the short, softer mucus plugs seen in some people with asthma.[75] However, some people with asthma have larger, firmer, more complex plugs. These differ from the casts seen in people whose plastic bronchitis is associated with congenital heart disease or lymphatic vessel abnormalities mainly because eosinophils and Charcot–Leyden crystals are present in the asthma-associated casts but not in the others.[75]
Casts obstruct the airflow, and can result in the overinflation of the opposite lung. Plastic bronchitis usually occurs in children. Some cases may result from abnormalities in the lymphatic vessels. Advanced cases may show imaging similarities to bronchiectasis.[76]
## Aspergillus bronchitis[edit]
Aspergillus bronchitis is one of the Aspergillosis spectrum of diseases, in which the bronchi are specifically subject to a fungal infection. This differs from the other pulmonary aspergillosis conditions, in that it need not affect just the immunocompromised.[77][78]
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61. ^ Poole, Phillippa; Sathananthan, K; Fortescue, R (May 2019). "Mucolytic agents versus placebo for chronic bronchitis or chronic obstructive pulmonary disease". The Cochrane Database of Systematic Reviews. 5 (7): CD001287. doi:10.1002/14651858.CD001287.pub6. PMC 6527426. PMID 31107966.
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## External links[edit]
Classification
D
* ICD-10: J20-J21, J40, J41, J42
* ICD-9-CM: 466, 491, 490
* MeSH: D001991
* DiseasesDB: 29135
External resources
* MedlinePlus: 001087
* eMedicine: article/807035 article/297108
* NIH entry on Bronchitis
* MedlinePlus entries on Acute bronchitis and Chronic bronchitis
* Mayo Clinic factsheet on bronchitis
* v
* t
* e
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* NDL: 00565771
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
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*[E2]: estradiol
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*[lit.]: literal translation
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*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
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*[GPRC6A]: G protein-coupled receptor family C group 6 member A
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*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
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*[SzPD]: Schizoid Personality Disorder
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*[BPD]: Borderline Personality Disorder
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*[PAPD]: Passive-Aggressive Personality Disorder
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*[SDPD]: Self-Defeating Personality Disorder
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*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
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*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
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*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Bronchitis
|
c0006277
| 28,005 |
wikipedia
|
https://en.wikipedia.org/wiki/Bronchitis
| 2021-01-18T19:01:27 |
{"mesh": ["D001991"], "umls": ["C0006277", "C0149514", "C0008677"], "wikidata": ["Q173022"]}
|
A number sign (#) is used with this entry because of evidence that Roberts syndrome (RBS) is caused by homozygous mutation in the ESCO2 gene (609353) on chromosome 8p21.
Mutation in the ESCO2 gene also causes a similar but milder disorder, the SC phocomelia syndrome (269000).
Description
Roberts syndrome is a rare autosomal recessive disorder characterized by tetraphocomelia (symmetrical limb reduction), craniofacial anomalies, growth retardation, mental retardation, and cardiac and renal abnormalities (summary by Goh et al., 2010).
Clinical Features
Roberts (1919) described 3 affected sibs of first-cousin Italian parents. Pictures were included. The bones of the legs were almost absent and those of the arms hypoplastic. Bilateral cleft lip and cleft palate were present. The skull looked oxycephalic with prominent eyes, as in Crouzon syndrome (123500). The patient of Stroer (1939), also of first-cousin parents, may have had the same disorder. Appelt et al. (1966) described cases and pointed out that clitoral or penile enlargement is a feature. Corneal opacities occur in this disorder. Freeman et al. (1974) presented a good survey.
Temtamy (1974) concluded that Roberts syndrome and the SC phocomelia syndrome (269000) are the same. By an analysis of phenotype, Herrmann and Opitz (1977) concluded that they could not tell whether the SC phocomelia syndrome and the Roberts syndrome are 'due to different recessive genes, different alleles, or the same recessive gene.' Because of overlapping features in their patient, Waldenmaier et al. (1978) suggested that the SC phocomelia syndrome and the TAR syndrome (274000) are not separate from the Roberts syndrome. Tomkins et al. (1979) noted the uncertainty as to whether Roberts syndrome and the SC syndrome are separate entities. They found a consistent centromeric abnormality of the chromosomes, namely, puffing and splitting, in 4 patients who had certain clinical features in common: bilateral corneal opacities, microcephaly, absence of radii, limitation of extension at the elbows and knees, enlargement of the phallus, and survival beyond the neonatal period. Fryns et al. (1980) reported identical twins concordant for the tetraphocomelia-cleft palate syndrome. Since the twins showed the severe tetraphocomelia of Roberts syndrome and the less prominent craniofacial abnormalities of the pseudothalidomide syndrome, the authors favored the view that these two entities are one.
Stoll et al. (1979) raised the question of phenocopy resulting from maternal ingestion of clonidine, an antihypertensive medication. Da Silva and Bezerra (1982) reported 4 affected sibs of first-cousin parents.
Tomkins and Sisken (1984) suggested that impediment to cellular growth is responsible for reduced pre- and postnatal growth rates and also for the developmental abnormalities. Premature centromere separation (PCS) has been reported in lymphocytes and/or fibroblasts from at least 17 patients whose clinical phenotypes cover the range of the Roberts syndrome at the severe end and the SC phocomelia syndrome at the milder end (Parry et al., 1986). This argues that the 2 syndromes may represent the same clinical entity.
Romke et al. (1987) reported a family in which 3 sibs had various manifestations of Roberts syndrome or SC phocomelia, leading them to conclude that the 2 syndromes are the same genetic entity. Krassikoff et al. (1986) found that aneuploid cells from a metastatic melanoma in a patient with the Roberts/SC phocomelia syndrome, aged 32 years, showed a reduced frequency of PCS. Furthermore, when the patient's fibroblasts, which showed a high frequency of PCS, were cocultivated with either an immortal hamster cell line or with a human male fibroblast strain carrying a t(4;6) translocation, the phenomenon was neither corrected in the patient's cells nor induced in the other cells. In each experiment, only the patient's metaphase spreads showed PCS. In fusion hybrids between the patient's fibroblasts and an established Chinese cell line, however, the human chromosomes behaved normally. No chromatid repulsion (PCS) was observed, suggesting that the missing or mutant gene product in Roberts/SC phocomelia syndrome is supplied by the Chinese hamster genome.
Fryns et al. (1987) described 2 sibs with tetraphocomelia typical of Roberts syndrome: there was almost complete reduction of the midparts of the upper and lower limbs, and characteristic oligodactyly with absent nails. Neither cleft lip/cleft palate nor eye anomalies were present. Furthermore, premature centromere separation was not observed. The facies was unusual, consisting of a beaked nose, short philtrum, and triangular mouth.
Huson et al. (1990) described a patient with craniostenosis and radial aplasia, which led to an initial diagnosis of Baller-Gerold syndrome (218600). Mild fibular hypoplasia on skeletal survey led to review of the diagnosis, and similarity of the facial phenotype to that of Roberts syndrome was noted. Chromosome analysis showed the premature centromere separation characteristic of that condition. Huson et al. (1990) suggested that cases diagnosed as having Baller-Gerold syndrome should have cytogenetic analysis and, conversely, that known Roberts syndrome survivors should be reviewed for signs of craniostenosis.
Keppen et al. (1991) described an infant with the clinical diagnosis of Roberts syndrome, but without the premature separation of centromeric heterochromatin and typical abnormalities of the cell division cycle reported in this condition.
Maserati et al. (1991) described 5 cases in 4 nuclear families; in 3 of the families, the parents were consanguineous. They pictured affected sisters at ages 23 and 15 and emphasized the wide range of variability in the phenotype. The affected sisters had bilateral radial aplasia, hypoplastic ulnas and malformed hands; in the lower limbs, they had aplasia of the fibula with a bent tibia and bilateral clubfoot. At the other extreme was severe tetraphocomelia with death at or soon after birth.
Van Den Berg and Francke (1993) provided a review of 100 cases of Roberts syndrome and defined a new rating system for quantitating severity.
Satar et al. (1994) described a male infant who, in addition to typical manifestations of Roberts syndrome, had atrial septal defect, rudimentary gallbladder, and accessory spleen. Urban et al. (1998) described a 13-year-old boy who illustrated the phenotypic overlap between Roberts syndrome and TAR syndrome. The mother had an isolated left cleft of the lip and a cleft palate. The boy presented at birth with bilateral cleft lip/cleft palate, phocomelia of upper limbs with normal hands, and mild symmetric deficiencies of the long bones of the lower limbs. A leukemoid reaction occurred during a urinary tract infection as well as intermittent thrombocytopenia and episodes of marked eosinophilia during the first 2 years of life. Intellectual development was normal.
Sinha et al. (1994) reviewed clinical heterogeneity of the skeletal dysplasia in Roberts syndrome. Sabry (1995) suggested that, in the light of contemporary molecular and developmental genetics, such heterogeneity would not be surprising with different mutations in the same gene or with mutations in closely related genes of the same family. Sabry (1995) raised the possibility that the mutations may lie in centromere-related proteins, which may also have a role in body patterning.
Goh et al. (2010) studied a 31-year-old man who was referred for short stature and subaortic stenosis; the latter had been repaired at 8 years of age but recurred in adulthood, requiring reoperation. Upon examination he had short stature and dysmorphic features, including hypertelorism, downslanting palpebral fissures, prominent nasal bridge, and hypoplastic alae nasi with prominent columella. His ears were simple and slightly posteriorly angulated; he had a high palate and mild retrognathia. His extremities displayed no obvious defects, but careful measurement showed limb lengths ranging from less than the 50th centile to less than the 5th centile for adult males. Karyotype showed premature centromere separation in all metaphases. Skeletal survey showed no limb reduction defects, but there was evidence of hypertelorism, mild brachymetacarpalia, brachyphalangy, and short femoral necks. Analysis of the ESCO2 gene revealed homozygosity for a truncating mutation. Goh et al. (2010) reviewed previously reported adult cases of Roberts syndrome/SC phocomelia, and noted that this case highlighted the variability in the RBS/SC phocomelia spectrum and demonstrated that clinically apparent limb anomaly might not be an obligate feature for diagnosis of the condition.
Diagnosis
Vega et al. (2010) established clinical criteria for a diagnosis of Roberts syndrome based on a cohort of 49 patients, including 18 reported previously, with the disorder confirmed by genetic analysis. The clinical criteria were delineated to include growth retardation, symmetric mesomelic shortening of the limbs in which the upper limbs were more commonly and severely affected than the lower limbs, and characteristic facies with microcephaly. The severity of malformations of the facies correlated with the severity of limb reduction. There were some significant associations: patients without corneal opacities were less likely to present with cardiac anomalies (p = 0.0022) and those with corneal opacities were more likely to present with mental retardation (p = 0.0006)
### Prenatal Diagnosis
Hirschhorn and Kaffe (1992) pointed out that they had made a prenatal diagnosis of Roberts syndrome in a family at risk by detection of skeletal and renal abnormalities (Kaffe et al., 1977).
Cytogenetics
Zergollern and Hitrec (1982) also concluded that the Roberts and SC syndromes are one entity. In a sibship with 4 affected, they found silver-blond hair, typical of SC, in 1; 2 had cloudy corneas typical of SC. They described chromosomal changes similar to those described by others and proposed their use in prenatal diagnosis. The chromosomal abnormality involves the heterochromatic, C-banding regions of most chromosomes. In addition to the above noted puffing of heterochromatic regions around the centromeres and nucleolar organizers, the heterochromatin of the long arms of the Y chromosome is often widely separated in metaphase spreads. German (1979) suggested that these configurations result from a repulsion or lack of attraction between the chromatids in these regions leading to premature separation during prophase and metaphase. Maserati et al. (1991) used indirect immunofluorescence with serum antibodies from patients with CREST (181750) to demonstrate that the centromeric structures are normal in Roberts syndrome, thus confirming the assumption of German (1979) that chromatid repulsion is confined to the heterochromatin. Studies suggested that heterozygotes can be screened by the phenomenon of centromeric heterochromatin separation.
Jabs et al. (1991) presented evidence that Roberts syndrome is a 'mitotic mutant.' They emphasized that, in addition to previously described changes, aneuploidy with random chromosome loss and micronuclei and/or nuclear lobulation in the interphase cells are characteristic. They considered it unlikely that the defect in this disorder is in one of the structural proteins of the kinetochore. They suggested, however, that the defect might lie in one of the proteins transiently associated with the kinetochore and involved in its function. Stioui et al. (1992) detected premature centromere separation on chorionic villus sampling at 8 weeks' gestation in a woman at risk of recurrence of Roberts syndrome.
Lopez-Allen et al. (1996) pictured an afflicted newborn infant and the chromosome changes.
Allingham-Hawkins and Tomkins (1995) pointed out that some Roberts syndrome patients (referred to as RS+), but not others (RS-), have an abnormality of their constitutive heterochromatin and show cellular hypersensitivity to DNA damaging agents such as mitomycin C. Lymphoblastoid cell lines from 2 unrelated RS+ patients were fused and hybrid cells examined for correction of these 2 defects. Neither cellular defect was corrected in the 2 hybrid cell lines, suggesting that the patients represent a single complementation group. On the other hand, fusions between 1 RS+ cell line and 2 different RS- cell lines produced in each case hybrids demonstrating correction of both defects. This suggested that RS+ and RS- patients belong to different complementation groups and do not arise from the same single gene mutation.
McDaniel et al. (2000) described a new assay for in vitro complementation and assigned a severely affected patient to the same complementation group defined by other, less severely affected patients. They suggested that a single complementation group defines RBS patients with heterochromatic splaying regardless of clinical severity. McDaniel et al. (2005) used complementation of the abnormal cytogenetic phenotype of Roberts syndrome, referred to as 'heterochromatic repulsion,' to identify a specific region of the normal human genome capable of rendering phenotypic correction. Using a transient chromosome-transfer assay, they screened the entire human genome and demonstrated complementation exclusively after the transfer of proximal chromosome 8p, a result subsequently confirmed by stable microcell-mediated chromosome transfer. Additionally, homozygosity mapping was used to refine the interval of this complementing locus to 8p21. These findings were all consistent with those of Vega et al. (2005).
Population Genetics
Bermejo-Sanchez et al. (2011) reported epidemiologic data on phocomelia from 19 birth defect surveillance programs, all members of the International Clearinghouse for Birth Defects Surveillance and Research. Depending on the program, data corresponded to a period from 1968 through 2006. A total of 22,740,933 live births, stillbirths, and, for some programs, elective terminations of pregnancy for fetal anomaly were monitored. After a detailed review of clinical data, only true phocomelia cases were included. Descriptive data were presented and additional analyses compared isolated cases with those with multiple congenital anomalies (MCA), excluding syndromes. Bermejo-Sanchez et al. (2011) also briefly compared congenital anomalies associated with nonsyndromic phocomelia with those presented with amelia (see 601360), another rare severe congenital limb defect. A total of 141 phocomelia cases registered gave an overall total prevalence of 0.62 per 100,000 births (95% confidence interval 0.52-0.73). Three programs, Australia Victoria, South America ECLAMC, and Italy North East, had significantly different prevalence estimates. Most cases (53.2%) had isolated phocomelia, while 9.9% had syndromes. Most nonsyndromic cases were monomelic (55.9%), with an excess of left (64.9%) and upper limb (64.9%) involvement. Most nonsyndromic cases (66.9%) were live births; most isolated cases (57.9%) weighed more than 2,499 grams; most MCA (60.7%) weighed less than 2,500 grams and were more likely stillbirths (30.8%) or terminations (15.4%) than isolated cases. The most common associated defects were musculoskeletal, cardiac, and intestinal.
Mapping
Vega et al. (2005) identified 7 families affected with Roberts syndrome in 2 isolated villages near Bogota, Colombia. After discovering a common ancestor in the 18th century by genealogic studies of 4 families, they began a genomewide search for the disease-associated locus by homozygosity mapping. The final analysis reported linkage for 8p21.2-p12 between markers D8S258 and D8S505. With additional families and fine mapping, they confirmed a region of homozygosity in all 11 affected individuals studied. Multipoint analysis gave a maximum lod score of 13.4 at D8S1839.
Molecular Genetics
Using a candidate gene approach, Vega et al. (2005) screened a novel transcript containing D8S1839 and found 8 different mutations in 18 affected individuals from 15 families of different ethnic backgrounds. They identified 1 missense mutation, 1 nonsense mutation, and 6 frameshift mutations (see, e.g., 609353.0001-609353.0003) in the ESCO2 gene. The ESCO2 protein product is a member of a conserved protein family that is required for the establishment of sister chromatid cohesion during S phase and has putative acetyltransferase activity.
Gordillo et al. (2008) stated that Roberts syndrome and SC phocomelia were considered to be the same syndrome with varying phenotypic expression, and that they would henceforth designate all such cases of Roberts syndrome/SC phocomelia as 'RBS.' The authors analyzed the ESCO2 gene in 16 Roberts syndrome/SC phocomelia pedigrees with 17 affected individuals and identified 15 different mutations; 13 individuals were homozygous, and 4 were compound heterozygous for the mutations.
Genotype/Phenotype Correlations
In an analysis of 49 patients with ESCO2 mutations, including 18 previously reported cases, Vega et al. (2010) found no clear genotype/phenotype correlation. However, the presence or absence of corneal opacities segregated with specific mutations in some cases. All 7 individuals from 4 families with the 750insG mutation (609353.0003) lacked corneal opacities, whereas all 5 patients with the R169X mutation (609353.0002) had corneal opacities. In addition, patients without corneal opacities were less likely to present with cardiac abnormalities, and patients with corneal opacities were more likely to present with mental retardation. Skeletal defects were more common in patients with cleft lip/palate. Vega et al. (2010) found that both Roberts syndrome and SC phocomelia could be caused by the same mutation in different members of the same family, indicating that the 2 disorders represent a phenotypic spectrum.
History
Urban et al. (1997) described a specimen of tetraphocomelia and bilaterally cleft lip recovered from what had been the Virchow Museum of Humboldt University in Berlin and showed convincingly that this was the specimen reported by Virchow (1898). This was clearly an instance of Roberts syndrome.
Bates (2003) reproduced the report of a case of Roberts syndrome by Francois Bouchard in 1672.
Kompanje (2009) commented on the report of Bates (2003), noting that Francois Bouchard had actually translated the original report that was written by the French surgeon Francois Deboze from Lyon. Other historical details were clarified.
INHERITANCE \- Autosomal recessive GROWTH Height \- Birth length less than 40cm Weight \- Birth weight 1.5-2.2 kg Other \- Severe prenatal growth deficiency \- Mild-severe postnatal growth deficiency HEAD & NECK Head \- Microcephaly \- Brachycephaly Face \- Micrognathia \- Malar hypoplasia Ears \- Malformed ears \- Lobeless ears \- Low-set ears \- Posteriorly-angulated ears Eyes \- Hypertelorism \- Shallow orbits \- Prominent eyes \- Bluish sclerae \- Corneal clouding \- Microphthalmia \- Cataract \- Lid coloboma \- Exophthalmos \- Downslanting palpebral fissures Nose \- Thin nares \- Hypoplastic nasal alae \- Widened nasal bridge Mouth \- Cleft lip \- Cleft palate \- High-arched palate Neck \- Short neck \- Nuchal cystic hygroma CARDIOVASCULAR Heart \- Atrial septal defect \- Ventricular septal defect Vascular \- Patent ductus arteriosus ABDOMEN Biliary Tract \- Rudimentary gallbladder Spleen \- Accessory spleen GENITOURINARY External Genitalia (Male) \- Hypospadias \- Enlarged penis External Genitalia (Female) \- Enlarged clitoris \- Enlarged labia minora Internal Genitalia (Male) \- Cryptorchidism Internal Genitalia (Female) \- Bicornuate uterus Kidneys \- Polycystic kidney \- Horseshoe kidney SKELETAL Skull \- Craniosynostosis Limbs \- Hypomelia (more severe in upper limbs) \- Tetraphocomelia \- Elbow contracture \- Absence or reduction in length of humerus, radius, or ulna \- Knee contracture \- Absence or reduction in length of femur, tibia, or fibula Hands \- Wrist contracture \- Syndactyly \- Clinodactyly \- Oligodactyly \- Brachydactyly \- Metacarpal fusion Feet \- Ankle contracture \- Talipes equinovalgus \- Reduction in number of toes SKIN, NAILS, & HAIR Skin \- Midfacial capillary hemangioma \- Cafe au lait spots on trunk and extremities Hair \- Sparse hair \- Silvery blonde scalp hair NEUROLOGIC Central Nervous System \- Mental retardation \- Frontal encephalocele \- Hydrocephalus \- Cranial nerve paralysis LABORATORY ABNORMALITIES \- Premature separation of centromeric heterochromatin \- Normal karyotype \- Abnormal nuclear morphology MISCELLANEOUS \- Polyhydramnios \- Presence of severe midfacial and limb defects and birth length less than 37cm associated with stillborn or early infant death \- Likely allelic to SC phocomelia syndrome ( 269000 ) MOLECULAR BASIS \- Caused by mutation in the establishment of cohesion 1 homolog 2 gene (ESCO2, 609353.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
ROBERTS SYNDROME
|
c0392475
| 28,006 |
omim
|
https://www.omim.org/entry/268300
| 2019-09-22T16:22:33 |
{"doid": ["5325"], "mesh": ["C535687"], "omim": ["268300"], "orphanet": ["3103"], "synonyms": ["Alternative titles", "LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE"], "genereviews": ["NBK1153"]}
|
## Summary
### Clinical characteristics.
Classic ataxia-telangiectasia (A-T) is characterized by progressive cerebellar ataxia beginning between ages one and four years, oculomotor apraxia, choreoathetosis, telangiectasias of the conjunctivae, immunodeficiency, frequent infections, and an increased risk for malignancy, particularly leukemia and lymphoma. Individuals with A-T are unusually sensitive to ionizing radiation. Non-classic forms of A-T have included adult-onset A-T and A-T with early-onset dystonia.
### Diagnosis/testing.
The diagnosis of A-T is suspected based on suggestive clinical and preliminary laboratory findings and – in some instances – neuroimaging and family history. The diagnosis is established in a proband either by molecular genetic testing to document the presence of biallelic (homozygous or compound heterozygous) ATM pathogenic variants or (when available) by immunoblotting to test for absent or reduced ATM protein.
### Management.
Treatment of manifestations:
* Neurologic: supportive therapy and medications (when possible) as well as early and continued physical therapy to reduce the risk for contractures and scoliosis.
* Immunodeficiency: IVIG replacement therapy as needed for (a) frequent and severe infections and (b) low IgG levels.
* Pulmonary: multidisciplinary management that emphasizes monitoring of recurrent infection, pulmonary function, swallowing, nutrition, scoliosis, and immune function.
* Cancer: because of the increased sensitivity of A-T cells, use of ionizing radiation and some chemotherapeutic agents requires careful monitoring.
Prevention of secondary complications: Gastrostomy tube feedings are occasionally needed to prevent pulmonary and nutritional complications of dysphagia. Attention to potential risks of anesthesia including impaired swallowing, increased risk of aspiration, reduced pulmonary function, and infection.
Surveillance: In those with severe recurrent infections or undergoing immunomodulatory therapy: monitoring of pulmonary function and other signs of pulmonary disease and early signs of malignancy (e.g., weight loss, bruising, localized pain or swelling).
### Genetic counseling.
A-T is inherited in an autosomal recessive manner. At conception, the sibs of an affected individual have a 25% chance of being affected, a 50% chance of being asymptomatic carriers, and a 25% chance of being unaffected and not carriers. ATM heterozygotes (carriers) are at increased risk of developing cancer. Once the ATM pathogenic variants have been identified in an affected family member, carrier testing for at-risk relatives, prenatal testing for a pregnancy at increased risk, and preimplantation genetic testing are possible.
## Diagnosis
### Suggestive Findings
Ataxia-telangiectasia (A-T) should be suspected in children who have the following clinical, MRI, and preliminary laboratory findings.
Clinical findings. Progressive cerebellar dysfunction between ages one and four years manifests as:
* Gait and truncal ataxia;
* Head tilting;
* Slurred speech;
* Oculomotor apraxia and abnormal ocular saccades.
"If oculomotor apraxia cannot be clearly documented in a cooperative patient, the diagnosis of A-T should be viewed with suspicion" [E Boder, pediatric neurologist and A-T pioneer (1909-1995)].
Note: The diagnosis of A-T is most difficult in very young children: they do not yet exhibit all the characteristic features of A-T and are typically unable to cooperate during neurologic examination.
MRI. The classic cerebellar findings are atrophy of the frontal and posterior vermis and both hemispheres. Note: Although a small cerebellum is not always apparent on MRI in young children, diffusion-weighted MRI allowed quantitation of cerebellar corticomotor pathway pathology in children as young as age three years, suggesting that this imaging may be useful in early confirmation of the diagnosis of A-T when the necessary equipment and expertise are available [Tavani et al 2003, Al-Maawali et al 2012, Sahama et al 2014a, Sahama et al 2014b].
Preliminary laboratory findings
* Newborn screening (NBS) for severe combined immunodeficiency identifies reduced T-cell receptor excision circle (TREC) levels. This method of NBS most likely identifies the estimated 50% of children with A-T who have lymphopenia; however, it may be less sensitive in older children with A-T (in whom T cell lymphopenias are less severe) [Mallott et al 2013].
* Serum concentration of alpha-fetoprotein (AFP) is elevated above10 ng/mL in about 95% of individuals with A-T.
Note: (1) Serum AFP concentration may remain above normal in unaffected children until age 24 months. (2) Persistent elevation of AFP does not necessarily indicate ongoing cerebellar damage or correlate with prognosis.
* Chromosome analysis. A 7;14 chromosome translocation is identified in 5%-15% of cells in routine chromosome studies of peripheral blood of individuals with A-T. The break points are commonly at 14q11 (the T-cell receptor-alpha locus) and at 14q32 (the B- cell immunoglobulin heavy chain receptor [IGH] locus).
### Establishing the Diagnosis
The diagnosis of A-T is established in a proband either by molecular genetic testing to document the presence of biallelic (homozygous or compound heterozygous) ATM pathogenic variants or (when available) by immunoblotting to test for absent or reduced ATM protein.
Molecular genetic testing approaches can include single-gene testing or use of a multigene panel.
Single-gene testing. Sequence analysis of ATM is performed first, followed by gene-targeted deletion/duplication analysis if only one or no pathogenic variant is found.
Targeted analysis for the following ATM pathogenic variants in specific populations can be performed first when appropriate:
* Amish: c.1564_1565delAG
* North African Jewish: c.103C>T (p.Arg35Ter)
* Sardinian: c.3894dupT
A multigene panel that includes ATM and other genes of interest, such as PP2A (see Differential Diagnosis), may also be considered. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview; thus, clinicians need to determine which multigene panel is most likely to identify the genetic cause of the condition at the most reasonable cost while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests.
For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.
### Table 1.
Molecular Genetic Testing Used in Ataxia-Telangiectasia
View in own window
Gene 1MethodProportion of Probands with Pathogenic Variants 2 Detectable by Method
ATMSequence analysis 3~90% 4
Deletion/duplication analysis 51%-2% 6
1\.
See Table A. Genes and Databases for chromosome locus and protein.
2\.
See Molecular Genetics for information on allelic variants detected in this gene.
3\.
Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Pathogenic variants may also include small intragenic deletions/insertions and missense, nonsense, and splice site variants. For issues to consider in interpretation of sequence analysis results, click here.
4\.
Some known pathogenic variants, such as the deep intronic Midlands, UK variant, c.5763-1050A>G (formerly known as 5762ins137), will not be detected by routine sequence analysis of ATM exons [McConville et al 1996]; however, targeted sequencing of deep intronic pathogenic variants increases the variant detection rate.
5\.
Testing that identifies exon or whole-gene deletions/duplications not detectable by sequence analysis of the coding and flanking intronic regions of genomic DNA. Methods used may include: quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and chromosomal microarray (CMA) that includes this gene/chromosome segment.
6\.
Telatar et al [1998], Cavalieri et al [2008], Zhang et al [2009]
Immunoblotting for ATM protein in a lymphoblastoid cell line (LCL) is more than 95% sensitive and more than 98% specific for diagnosing A-T [Chun et al 2003]. This testing may be performed to help interpret sequence variants of uncertain significance or confirm a diagnosis when only one ATM pathogenic variant is identified.
Of individuals with A-T:
* About 90% have no detectable ATM protein (i.e., <15% of control levels);
* About 10% have trace amounts to 15% of control levels of ATM protein;
* About 1% have a near-normal amount of ATM protein that lacks ATM serine/threonine kinase activity (so-called "kinase-dead" protein) [Stewart et al 2001].
Note: The presence of more than 15% ATM protein suggests one of the following:
* Another diagnosis
* An ATM pathogenic missense variant
* A leaky splicing ATM variant
* An ATM pathogenic variant resulting in "kinase-dead" protein
* Possibly, a pathogenic variant in a gene encoding an ancillary ATM-activating phosphatase like PP2A. However, to the authors' knowledge, PP2A deficiency results mainly from somatic pathogenic PP2A variants in tumor cells or PP2A inhibitors. To date, a person with PP2A deficiency has not been described.
For more detailed information on the interpretation of the results of ATM protein testing and research testing for ATM, click here (pdf).
## Clinical Characteristics
## Differential Diagnosis
## Management
### Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with ataxia-telangiectasia (A-T), the following evaluations are recommended:
* Neurologic consultation with attention to ataxia, including assessment of extraocular movement
* Assessment of speech re communication and swallowing re risk of aspiration
* Nutrition and feeding assessment
* Immune status of specific parameters that were previously aberrant (e.g., immunoglobulin levels, B/T cell levels, T cell function)
* Chest x-ray and pulmonary function for baseline
* CBC with differential
* Diabetes screen (urinalysis, fasting blood glucose concentration, Hgb A1C)
* Consultation with a clinical geneticist and/or genetic counselor
### Treatment of Manifestations
Neurologic. Supportive therapy can minimize drooling, choreoathetosis, myoclonus/tremor, and ataxia. However, individual responses to specific medications (e.g., amantadine and 4-aminopyridine) and to treatments used for myoclonus vary [Perlman et al 2012, Nissenkorn et al 2013, Shaikh et al 2013, van Egmond et al 2015]. Thus, it is recommended that treatment options be discussed with an experienced neurologist.
Early and continued physical therapy can minimize the risk for contractures (which appear in almost all individuals with time and often lead to other problems such as pressure sores and pain) and scoliosis (which can, for example, be the consequence of prolonged sitting in a wheelchair – particularly the tendency to lean on the same elbow).
Although steroids are reported to temporarily improve the neurologic symptoms of A-T in children, the symptoms reappear within days of their discontinuation [Gatti 1985, Buoni et al 2006, Broccoletti et al 2008, Gatti & Perlman 2009]. (See also Therapies Under Investigation.)
Immunodeficiency. IVIG replacement therapy should be considered for individuals with frequent and severe infections and very low IgG levels [Nowak-Wegrzyn et al 2004].
Pulmonary. The European Respiratory Society (ERS) has prepared extensive guidelines for the multidisciplinary respiratory management of A-T, emphasizing the need for monitoring of immune function, recurrent infection, pulmonary function, swallowing, nutrition, and scoliosis, all of which can contribute to increased respiratory morbidity and mortality in persons with A-T [Bhatt et al 2015] (full text).
Cancer. Because cells from individuals with A-T are 30% more sensitive to ionizing radiation than cells from controls, conventional doses of ionizing radiation are potentially lethal in individuals with A-T. Thus, the use of radiotherapy and some radiomimetic chemotherapeutic agents should be administered carefully and monitored closely [Schütte et al 2016].
Doses of some chemotherapeutic agents are often reduced by 25%-50% and longer recovery periods between treatments are considered to allow for the slower DNA repair that occurs in A-T [Schütte et al 2016].
### Prevention of Secondary Complications
Pulmonary and nutritional complications of dysphagia are common. Often, gastrostomy tube feedings are recommended to manage these comorbidities. Children with disorders with predictable progression (like A-T) and impaired swallowing may benefit from early rather than late placement of a feeding tube [Lefton-Greif et al 2000].
Anesthesia carries unique potential risks in persons with A-T because of impaired coordination of swallowing, increased risk of aspiration, reduced respiratory capacity, and propensity to infections [McGrath-Morrow et al 2008]. In a recent review, 24% of patients required supplemental oxygen (maximum duration 24 hours) post anesthesia; mild postoperative hypothermia was also relatively common [Lockman et al 2012].
### Surveillance
The European Respiratory Society (ERS) has prepared extensive guidelines for the multidisciplinary respiratory management of A-T, emphasizing the need for monitoring of immune function, recurrent infection, pulmonary function, swallowing, nutrition, and scoliosis, all of which could contribute to increased respiratory morbidity and mortality in A-T [Bhatt et al 2015] (full text).
Parents should be counseled to monitor for – and report to a physician – the early warning signs of malignancy (which can occur at any age) including weight loss, bruising, and localized pain or swelling. Periodic CBCs are warranted.
Immune status needs to be monitored if severe recurrent infections occur or immunomodulatory therapy is in progress.
### Evaluation of Relatives at Risk
See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.
### Therapies Under Investigation
Research suggests the following:
* Antioxidants (e.g., vitamin E or alpha-lipoic acid) are recommended, although no formal testing for efficacy has been conducted in individuals with A-T. Alpha-lipoic acid has the theoretic advantage of crossing the blood-brain barrier and improving mitochondrial function in A-T cells [Ambrose et al 2007].
* In culture, certain aminoglycoside antibiotics can induce small amounts of full-length ATM protein and return ATM functions to A-T cells with primary nonsense pathogenic variants [Lai et al 2004, Gatti 2012]. Non-aminoglycoside read-through chemicals, identified by a high-throughput screen of 70,000 compounds, induce ATM protein in A-T cells [Du & Gatti 2009]; and chemical derivatives of those compounds – such as RTC13, RTC14, RTC216, RTC202, RTC204, and RTC219 – have produced encouraging results in other diseases besides A-T (e.g., a mouse model of Duchenne muscular dystrophy [Kayali et al 2012], epidermolysis bullosa keratinocytes, xeroderma pigmentosum [Kuschal et al 2013], and retinal cells from amaurotic congenital blindness [Pillers et al 2015].
Thus, it is anticipated that in future patients will be candidates for mutation-targeted therapeutic trials, which will be based on the class of pathogenic variants present and not on the specific gene itself. These drugs will be grouped according to the class of pathogenic variants for which they can address/correct the underlying molecular pathogenicity. – rendering them potentially useful for treating a molecular spectrum of genetic diseases based on the class of pathogenic variant rather than the disease itself [Du et al 2007, Hu & Gatti 2008, Du & Gatti 2009, Jung et al 2011, Gatti 2012, Du et al 2013, Lavin 2013].
* Antisense morpholino oligonucleotides (AMOs) induce substantial corrections of ATM protein in cell lines with certain types of ATM splicing variants [Du et al 2007, Du et al 2009]. AMOs remain active in A-T cells for more than 14 days. In animal studies, they are well tolerated when a cell-penetrating protein moiety is added to the AMO. Groundbreaking clinical trials using AMO to treat spinal muscular atrophy – and a particular splicing variant that causes Duchenne muscular dystrophy – are in progress.
* Amlexanox (Aphthasol®) is another non-aminoglycoside (similar to ataluren [PTC124]) read-through compound for nonsense pathogenic variants that is being tested. To date, it is approved as an ointment for mouth ulcers and is prescribed primarily by dentists [Loudon 2013].
* Dexamethasone and betamethasone, but not methylprednisolone, have been reported to decrease neurologic manifestations in A-T [Buoni et al 2006, Broccoletti et al 2008, Gatti & Perlman 2009]. However, the neurologic improvement, which is also accompanied by signs of steroid toxicity, disappears within days of discontinuation of the steroids. Additional studies are in progress. Delivery of the steroids by loading them into erythrocytes affords much better dose control and delivery at 0.001% of previous steroid doses [Leuzzi et al 2015].
In a formal clinical trial in progress, betamethasone is being delivered within autologous red cells that have been infused with doses 100-1000 times lower than what was previously manageable, thereby mitigating most side effects of chronic steroid therapy.
* Use of insulin-like growth factor 1(IGF-1) treatment for A-T has been suggested [Fernandez et al 2005]. More recently, Voss et al [2014] showed that the GH/IGF-1 axis was perturbed in 58.3% of individuals with A-T (age range 2 to 9 years). A clinical trial is presently underway.
* Manganese-containing superoxide dismutase (SOD) mimics have a radioprotective effect on A-T cells [Pollard et al 2009]. A recent report provides compelling evidence that treatment of a transgenic mouse model of amyotrophic lateral sclerosis (ALS) with a copper-chaperone for SOD extends by 500 days the life expectancy of mice that normally die within three months [Williams et al 2016]. This potential advance in treating motor degeneration may be applicable to A-T as well.
* Mutation-targeted therapy for other rare genetic diseases has been encouraging [Wilschanski et al 2003, Welch et al 2007, Du et al 2009]. The number of potential disease targets for read-through therapy exceeds 8000 [Keeling & Bedwell 2011]. It is also estimated that 10%-15% of human pathogenic variants are nonsense variants [Mort et al 2008], predicting investigation of many millions of potential drug candidates.
Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions.
### Other
Any child younger than age five years with malignancy should be evaluated for A-T before starting chemotherapy and/or radiotherapy since conventional doses of either can be fatal in A-T.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Ataxia-Telangiectasia
|
c0004135
| 28,007 |
gene_reviews
|
https://www.ncbi.nlm.nih.gov/books/NBK26468/
| 2021-01-18T21:41:50 |
{"mesh": ["D001260"], "synonyms": []}
|
A number sign (#) is used with this entry because immunodeficiency-29 (IMD29) is caused by homozygous mutation in the IL12B gene (161561) on chromosome 5q33.3.
Description
IMD29 results from autosomal recessive IL12B deficiency and is characterized by undetectable IL12B secretion from leukocytes. IL12B-deficient patients generally present with bacillus Calmette-Guerin (BCG) disease after vaccination in childhood, and at least half also have Salmonella infection. Infections with Mycobacterium tuberculosis and environmental mycobacteria have also been reported in IL12B-deficient patients. The phenotype is relatively mild, and patients have a good prognosis (review by Al-Muhsen and Casanova, 2008).
Clinical Features
Altare et al. (1998) described IL12 deficiency in a child with curable BCG and Salmonella enteritidis infection. The girl was born to consanguineous Pakistani parents and received BCG immunization at birth. She presented 3 months later with local ulceration of her immunization site on her left deltoid region, regional lymphadenopathy, and a discharging sinus from which M. bovis BCG was isolated.
Picard et al. (2002) reported 12 additional patients with IL12B deficiency from 5 additional kindreds and reviewed the phenotype of all patients. Among 13 patients with IL12 deficiency, including the patient originally reported by Altare et al. (1998), 1 child had salmonellosis only and 12 suffered from clinical disease due to BCG or environmental nontuberculous mycobacteria. One patient also had clinical disease caused by virulent Mycobacterium tuberculosis, 5 patients had clinical disease caused by Salmonella serotypes, and 1 patient had clinical disease caused by Nocardia asteroides. The clinical outcome varied from case to case. Five patients, aged 2 to 11 years, died of overwhelming infection, whereas 8 patients, aged 3 to 12 years, were still in good health and not taking antibiotics at the time of report.
Molecular Genetics
In the child they reported with curable BCG and Salmonella enteritidis infection, Altare et al. (1998) found a large homozygous deletion (161561.0001) in the IL12B gene precluded expression of functional IL12-p70 cytokine by activated dendritic cells and phagocytes. As a result, interferon-gamma production by lymphocytes was markedly impaired. This was said to be the first discovered human disease caused by a cytokine gene defect, suggesting that IL12 is essential to and appears specific for protective immunity to intracellular bacteria, such as mycobacteria and salmonella.
In 1 kindred in India, Picard et al. (2002) identified the same large deletion in IL12B that was described by Altare et al. (1998) in a Pakistani child. In 4 kindreds in Saudi Arabia, Picard et al. (2002) found a recessive loss-of-function frameshift insertion in IL12B (161561.0002). A conserved haplotype encompassing the IL12B gene suggested that a founder effect accounted for the recurrence of each mutation. The 2 founder mutational events, the deletion and the insertion, were estimated to have occurred approximately 700 and 1,100 years ago, respectively.
INHERITANCE \- Autosomal recessive IMMUNOLOGY \- Increased susceptibility to Mycobacterial infections \- Increased susceptibility to Salmonella infections \- Poor or absent IL12 and gamma-interferon production MISCELLANEOUS \- Onset in early childhood \- Patients may develop disseminated disease after BCG vaccination \- Patients may respond well to treatment with gamma-interferon MOLECULAR BASIS \- Caused by mutation in the interleukin-12B gene (IL12B, 161561.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
IMMUNODEFICIENCY 29
|
c4013948
| 28,008 |
omim
|
https://www.omim.org/entry/614890
| 2019-09-22T15:53:48 |
{"omim": ["614890"], "orphanet": ["319558"], "synonyms": ["IL12B DEFICIENCY", "MSMD due to complete interleukin 12B deficiency", "Alternative titles", "MSMD due to complete IL12B deficiency", "Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency"]}
|
A rare genetic non-syndromic central nervous system malformation characterized by absence of the telencephalon and absent or abnormal diencephalic structures, combined with severe abnormalities of the mesencephalon and cerebellum. Further malformations, for example of the hands and feet, have been described in addition.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Aprosencephaly cerebellar dysgenesis
|
c1832412
| 28,009 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1126
| 2021-01-23T17:23:09 |
{"gard": ["4518"], "mesh": ["C563331"], "omim": ["601374"], "umls": ["C1832412"], "icd-10": ["Q04.3"]}
|
Human disease induced by a protist
Acanthamoeba keratitis
Fluorescein observation of an eye with Acanthamoeba keratitis
SpecialtyOphthalmology, infectious disease
ComplicationsVisual impairment, blindness
Risk factorsContact lens wearer, contaminated water supply, low socioeconomic status
TreatmentTopical medications, surgical debridement, corneal transplantation
Frequency1.2–3 million people per year; 1 per 10,000 contact wearers[1]
Acanthamoeba keratitis is a rare disease in which amoebae of the genus Acanthamoeba invade the clear portion of the front (cornea) of the eye, and affects roughly 100 people in the United States each year.[2] Acanthamoeba are protozoa found nearly ubiquitously in soil and water, and can cause infections of the skin, eyes, and central nervous system.[3] Infection of the cornea by Acanthamoeba is difficult to treat with conventional medications, and Acanthamoeba keratitis (AK) may cause permanent visual impairment or blindness, due to damage to the cornea or through damage to other structures important to vision.[4][5] Recently, AK has been recognized as an orphan disease and a funded project, orphan diseases Acanthamoeba keratitis (ODAK), has tested the effects of a diverse range drugs and biocides on AK.[6]
## Contents
* 1 Pathogenesis
* 1.1 Life cycle
* 2 Diagnosis
* 3 Treatment
* 3.1 Medical therapy
* 3.2 Surgical treatment
* 4 Epidemiology
* 5 References
* 6 External links
## Pathogenesis[edit]
In the United States, Acanthamoeba keratitis is nearly always associated with soft contact lens use.[7] Acanthamoeba spp. is most commonly introduced to the eye by contact lenses that have been exposed to the organism through the use of contaminated lens solution, using homemade saline-based solution or tap water, or from wearing contact lenses while bathing or swimming.[8][9] However, it may also be introduced to the eye by exposure to soil or vegetation, or by trauma.[2] In fact, the first case of Acanthamoeba keratitis described was due to ocular trauma.[2] Once on the contact lens, Acanthamoeba is able to survive in the space between the contact lens and the surface of the eye.[9][10][11] Soft contact lenses are more adherent to the corneal surface than hard lenses, which allows the Acanthamoeba organism to bind to mannosylated glycoproteins on the corneal surface.[12] Expression of these proteins on the corneal surface is increased by contact lens use.[11] This increase in glycoprotein content, along with microtrauma to the corneal epithelial surface due to contact lens use increases the risk for infection.[12][13] Once the organism has gained access to the surface of the eye, it is able to invade through the epithelium and Bowman's layer. In some cases, the infection can then group around corneal nerves, producing radial deposits (radial keratoneuritis), and causing extreme pain. These are features also seen in viral and bacterial keratitis, and may be misleading.[14][12][11] The organism is also capable of invading deeper into the cornea; using metalloproteases it is able to penetrate deep into the stroma of the cornea.[12] As the disease progresses, it may penetrate through cornea but very rarely causes infection inside the eye (endophthalmitis) due to a robust neutrophil response in the anterior chamber.[12][11]
While the vast majority of cases of Acanthamoeba keratitis occur in contact lens wearers, there have been many cases of Acanthamoeba described in those who do not wear contact lenses, especially outside the United States.[15][16] In non-contact lens users, the greatest risks for developing Acanthamoeba infection are trauma and exposure to contaminated water.[17] Further predisposing factors include contaminated home water supply, and low socioeconomic status. Infection is also more commonly seen in tropical or sub-tropical climates.[17]
Beyond the route of inoculation into the eye and external risk factors, host factors are also likely to play a significant role in the development of Acanthamoeba keratitis. In fact, studies of contact lens users in the United Kingdom, Japan, and New Zealand found that 400 to 800 per 10,000 asymptomatic contact lens users had lens storage cases contaminated with Acanthamoeba spp.[4] However, the rate of Acanthamoeba keratitis among these patients was only 0.01 to 1.49 per 10,000 contact lens users.[4] Although the exact host factors have not been fully described, it is likely that corneal epithelial defects, tear film composition, eye surface pH, and the level of anti-Acanthamoeba IgA antibodies in the tear film play a role in the development of Acanthamoeba keratitis.[7][4]
### Life cycle[edit]
Species within the genus, Acanthamoeba, are generally free-living trophozoites. These trophozoites are relatively ubiquitous and can live in, but are not restricted to, tap water, freshwater lakes, rivers and soil.[18] In addition to the trophozoite stage, the organism can also form a double-walled cyst which may also be present in the environment, and can be very difficult to eradicate through medical treatment. Both of these stages are usually non-nucleated and reproduce by the means of binary fission.[19]
Acanthamoeba trophozoite. Scale bar: 10 μm
## Diagnosis[edit]
Due to the relative rarity of Acanthamoeba keratitis (AK) compared to other causes of keratitis (bacterial, viral, etc.), it is often misdiagnosed, especially in the early stages of the disease.[20] AK should be considered in all patients who use contact lenses, and following corneal abrasions or trauma. A thorough history should be obtained, especially relating to contact lens use and any recent changes contact in lens solution, exposure of the eyes to water or foreign objects, and symptoms that the patient is experiencing. The symptoms classically attributed to AK include decreased or blurred vision, sensitivity to light (photophobia), redness of the eye (conjunctival hyperemia), and pain out of proportion to physical exam findings.[15][7] Another clinical feature that can distinguish Acanthamoeba from bacterial causes of keratitis is a lack of discharge from the eye.[12][4]
On physical exam, findings will depend on the stage of the disease. Early manifestations in the cornea can be seen as punctate keratopathy, pseudodendrites, and epithelial or subepithelial corneal deposits.[11] These features can lead an examiner to confuse AK with a viral keratitis, such as that caused by varicella zoster virus or herpes simplex virus.[20] As the disease progresses and infiltrates the corneal stroma, a classic "ring infiltrate" may be present on examination (although this is only seen in about 50% of cases).[11][12] Corneal ulceration, or in severe cases, perforation, can also occur and may be accompanied by hypopyon.[12][21]
In cases of keratitis, diagnosis is typically achieved through evaluation of corneal scrapings. Scrapings are taking from the cornea, and plated on agar for culture, and also can be stained using Gram stain and Giemsa stain to differentiate between bacterial keratitis and AK. To culture Acanthamoeba, scrapings are placed on a non-nutrient agar saline plate seeded with a gram-negative bacteria such as E. coli. If Acanthamoeba are present, they will reproduce readily and become visible on the plate under 10–20 times objective on an inverted microscope. Polymerase chain reaction (PCR) can be used to confirm a diagnosis of Acanthamoeba keratitis, especially when contact lenses are not involved.[22] Confocal microscopy is a non-invasive technique that allows visualization of Acanthamoeba in vivo in cases in which corneal scraping, culture, and cytology do not yield a diagnosis.[23]
## Treatment[edit]
Once Acanthamoeba keratitis is diagnosed, initiation of timely and appropriate treatment will have a significant impact on visual outcomes. Medical therapy aims to eradicate both trophozoite and cystic forms of Acanthamoeba and also control the inflammatory response.[citation needed]
### Medical therapy[edit]
Multiple classes of drugs have been found to be effective in killing the trophozoite form of Acanthamoeba, including anti-bacterial, anti-fungal, anti-protozoal, and anti-neoplastic agents. However, no single therapy has been found to eliminate both trophozoite and cystic forms, and to eradicate corneal infection.[4][15][12]
One class of medications used in treatment is the biguanides, which include polyhexamethylene biguanide (PHMB) 0.02% to 0.06% drops, and chlorhexidine 0.02 to 0.2% drops.[12][4][21] These medications disrupt the cell wall of the trophozoite organism, leading to its death. However, these agents have shown limited efficacy against the cystic forms.[12][24] Due to the efficacy of these drugs against the Acanthamoeba, as well as their low toxicity to the cornea, they are commonly used as the first line medications in the treatment of AK.[12][21] Biguanides have also been found to act synergistically when used in combination with diamidines, with propamidine isethionate and hexamidine being the most commonly used.[25] A limitation of diamidine use is relative corneal toxicity with long term use.[12] A combined regimen of propamidine, miconazole nitrate, and neomycin has also been suggested.[26][27][28] Due to the potential for negative longterm visual outcomes with AK, therapy is usually started with a combination of a biguanide and a diamidine. Early use of high dose dual therapy helps to eliminate both trophozoite and cyst forms of the organism, while also preventing deep penetration of cysts into the corneal stroma. Cysts that are not eradicated from the cornea will cause recurrence.[4][15][12] The treatment is often initiated by instilling drops onto the surface of the eye every hour, 24 hours a day, for at least the first 48–72 hours. If an appropriate response to therapy, this may be reduced to hourly administrations during the day only, which is continued for several weeks to months.[4][12]
Beyond anti-amoebic therapies, there is also a role for topical steroids of anti-inflammatory medications in the treatment of Acanthamoeba keratitis. During infection, severe inflammation in the cornea and anterior chamber can cause more severe symptoms including pain and visual disturbance.[12] Topical steroids may be used to reduce this inflammation and thereby alleviate symptoms.[12][21] However, the role of steroids is typically very limited, because their dampening of the immune response may lead to worsening of the infection.[4][21] Additionally, steroids can increase the number of trophozoites in the cornea by inducing excystation.[29] Therefore it is typically recommended that steroids be used briefly to aid in symptom resolution, and that anti-amoebic agents be used both during, and for several weeks after topical steroid use.[15]
### Surgical treatment[edit]
Surgical debridement of an infected cornea can also be used to reduce organism load and excise devitalized tissue from the cornea. It may also improve the efficacy of medical therapy by promoting penetration of medication into deeper layers of the cornea.[4][12] In cases of corneal ulceration or perforation, or if corneal scarring is severe, corneal transplant may be required.[24][25] This typically involves full thickness transplantation of the cornea from a healthy donor eye. The size of the graft should be kept as small as possible, as larger grafts carry a great risk of host rejection, and due to the possibility of graft revision surgery. While surgery is capable of restoring vision by replacing a damaged cornea, it also carries risks of recurrent Acanthamoeba infection or graft failure. For this reason, anti-amoebic medications should be started prior to surgery, and continued for several weeks afterward. If there is suspicion or evidence of recurrent infection, cultures should be sent. If cultures are positive, anti-amoebic therapy should be continued for 6 months.[4][12][20]
Outcomes following surgery are typically much better for patients who receive surgery for vision improvement following infection resolution, and therefore all efforts should be made to maximize medical management before attempting surgery.[12]
## Epidemiology[edit]
A study in Austria reported a total of 154 cases of Acanthamoeba keratitis over a 20-year period. The age of those with AK ranged from 8 to 82 years old and 58% of the people were female. The data showed that 89% of the infected patients were contact lens wearers, almost all cases occurred only in one eye, and 19% required a corneal transplant.[30]
## References[edit]
1. ^ "Acanthamoeba Infection: Background, Pathophysiology, Epidemiology". Medscape Reference. 2020-03-26. Retrieved 2020-05-30.
2. ^ a b c Scruggs, Brittni A.; Quist, Tyler S.; Salinas, Jorge L.; Greiner, Mark A.; et al. (2019). Notes from the Field: Acanthamoeba Keratitis Cases — Iowa, 2002–2017. Morbidity and Mortality Weekly Report (MMWR).
3. ^ "CDC - Acanthamoeba Infection". www.cdc.gov. 2017-06-21. Retrieved 2018-11-06.
4. ^ a b c d e f g h i j k l Lorenzo-Morales J, Khan NA, Walochnik J (2015). "An update on Acanthamoeba keratitis: diagnosis, pathogenesis and treatment". Parasite. 22: 10. doi:10.1051/parasite/2015010. PMC 4330640. PMID 25687209.
5. ^ "CDC - Acanthamoeba Infection - General Information - Acanthamoeba Keratitis FAQs". Cdc.gov. Retrieved 2013-08-02.
6. ^ Baig AM (2019). "Drug targeting in Acanthamoeba keratitis: rational of using drugs that are already approved for ocular use in non-keratitis indications". Eye. 33 (3): 509–518. doi:10.1038/s41433-018-0245-6. PMC 6460712. PMID 30356128.
7. ^ a b c Auran JD, Starr MB, Jakobiec FA (1987). "Acanthamoeba keratitis. A review of the literature". Cornea. 6 (1): 2–26. doi:10.1097/00003226-198706010-00002. PMID 3556011.
8. ^ Ahmad SS (2018-07-01). "Water related ocular diseases". Saudi Journal of Ophthalmology. 32 (3): 227–233. doi:10.1016/j.sjopt.2017.10.009. PMC 6137694. PMID 30224888.
9. ^ a b JOHN D.T. (1993) Opportunistically pathogenic free-living amebae. In: J.P. Kreier and J.R. Baker (Eds.), Parasitic Protozoa. Vol. 3. Academic Press, New York, pp. 143–246.
10. ^ Badenoch PR, Adams M, Coster DJ (February 1995). "Corneal virulence, cytopathic effect on human keratocytes and genetic characterization of Acanthamoeba". International Journal for Parasitology. 25 (2): 229–39. doi:10.1016/0020-7519(94)00075-Y. PMID 7622330.
11. ^ a b c d e f Niederkorn JY, Alizadeh H, Leher H, McCulley JP (May 1999). "The pathogenesis of Acanthamoeba keratitis". Microbes and Infection. 1 (6): 437–43. doi:10.1016/S1286-4579(99)80047-1. PMID 10602676.
12. ^ a b c d e f g h i j k l m n o p q r s t pubmeddev. "Update on Acanthamoeba Keratitis: Diagnosis, Treatment, and Outcomes - PubMed - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2018-11-12.
13. ^ Anger C, Lally JM (September 2008). "Acanthamoeba: a review of its potential to cause keratitis, current lens care solution disinfection standards and methodologies, and strategies to reduce patient risk". Eye & Contact Lens. 34 (5): 247–53. doi:10.1097/ICL.0b013e31817e7d83. PMID 18779663. S2CID 43868038.
14. ^ Alfawaz A (July 2011). "Radial keratoneuritis as a presenting sign in acanthamoeba keratitis". Middle East African Journal of Ophthalmology. 18 (3): 252–5. doi:10.4103/0974-9233.84062. PMC 3162742. PMID 21887085.
15. ^ a b c d e Sharma S, Garg P, Rao GN (October 2000). "Patient characteristics, diagnosis, and treatment of non-contact lens related Acanthamoeba keratitis". The British Journal of Ophthalmology. 84 (10): 1103–8. doi:10.1136/bjo.84.10.1103. PMC 1723254. PMID 11004092.
16. ^ Bharathi JM, Srinivasan M, Ramakrishnan R, Meenakshi R, Padmavathy S, Lalitha PN (2007). "A study of the spectrum of Acanthamoeba keratitis: a three-year study at a tertiary eye care referral center in South India". Indian Journal of Ophthalmology. 55 (1): 37–42. doi:10.4103/0301-4738.29493. PMID 17189885.
17. ^ a b Garg P, Kalra P, Joseph J (November 2017). "Acanthamoeba keratitis". Indian Journal of Ophthalmology. 65 (11): 1079–1086. doi:10.4103/ijo.IJO_826_17. PMC 5700572. PMID 29133630.
18. ^ "Acanthamoeba-General Information-Acanthamoeba keratitis". CDC. 2019-01-04.
19. ^ Neelam S, Niederkorn JY (June 2017). "Acanthamoeba Keratitis: Insights from Animal Models". The Yale Journal of Biology and Medicine. 90 (2): 261–268. PMC 5482302. PMID 28656012.
20. ^ a b c Lorenzo-Morales J, Khan NA, Walochnik J (2015). "An update on Acanthamoeba keratitis: diagnosis, pathogenesis and treatment". Parasite. 22: 10. doi:10.1051/parasite/2015010. PMC 4330640. PMID 25687209.
21. ^ a b c d e Hammersmith KM (August 2006). "Diagnosis and management of Acanthamoeba keratitis". Current Opinion in Ophthalmology. 17 (4): 327–31. doi:10.1097/01.icu.0000233949.56229.7d. PMID 16900022. S2CID 19843745.
22. ^ Pasricha G, Sharma S, Garg P, Aggarwal RK (July 2003). "Use of 18S rRNA gene-based PCR assay for diagnosis of acanthamoeba keratitis in non-contact lens wearers in India". Journal of Clinical Microbiology. 41 (7): 3206–11. doi:10.1128/JCM.41.7.3206-3211.2003. PMC 165372. PMID 12843065.
23. ^ Nakano E, Oliveira M, Portellinha W, de Freitas D, Nakano K (September 2004). "Confocal microscopy in early diagnosis of Acanthamoeba keratitis". Journal of Refractive Surgery. 20 (5 Suppl): S737–40. doi:10.3928/1081-597X-20040903-23. PMID 15521280.
24. ^ a b Alkharashi M, Lindsley K, Law HA, Sikder S (February 2015). "Medical interventions for acanthamoeba keratitis". The Cochrane Database of Systematic Reviews. 2 (2): CD010792. doi:10.1002/14651858.CD010792.pub2. PMC 4730543. PMID 25710134.
25. ^ a b Lindsay RG, Watters G, Johnson R, Ormonde SE, Snibson GR (September 2007). "Acanthamoeba keratitis and contact lens wear". Clinical & Experimental Optometry. 90 (5): 351–60. doi:10.1111/j.1444-0938.2007.00172.x. PMID 17697181.
26. ^ Baig, Abdul Mannan (2019). "Drug targeting in Acanthamoeba keratitis: Rational of using drugs that are already approved for ocular use in non-keratitis indications". Eye. 33 (3): 509–518. doi:10.1038/s41433-018-0245-6. PMC 6460712. PMID 30356128.
27. ^ "Acanthamoeba: Treatment & Medication - eMedicine Infectious Diseases". Retrieved 2009-02-27.
28. ^ Singh S, Sachdeva MP (July 1994). "Acanthamoeba keratitis". BMJ. 309 (6949): 273. doi:10.1136/bmj.309.6949.273. PMC 2540756. PMID 7802782.
29. ^ McClellan, Kathy; Howard, Kevin; Niederkorn, Jerry Y.; Alizadeh, Hassan (2001-11-01). "Effect of Steroids on Acanthamoeba Cysts and Trophozoites". Investigative Ophthalmology & Visual Science. 42 (12): 2885–2893. ISSN 1552-5783. PMID 11687533.
30. ^ Walochnik J, Scheikl U, Haller-Schober EM (2014). "Twenty years of acanthamoeba diagnostics in Austria". The Journal of Eukaryotic Microbiology. 62 (1): 3–11. doi:10.1111/jeu.12149. PMC 4342769. PMID 25047131.
Shandilya VK, Parmar LD, Shandilya AV. Functional ambulation with bent knee prostheses for an adult with bilateral 90 degrees knee flexion contractures—A case report. J Family Med Prim Care [serial online] 2020 [cited 2020 Jun 2];9:2492-5. Available from: http://www.jfmpc.com/text.asp?2020/9/5/2492/285055
## External links[edit]
* Acanthamoeba keratitis \- Centers for Disease Control and Prevention
* Picture reference of the life cycle of Acanthamoeba
Classification
D
* ICD-10: B60.1+ H19.2*
* MeSH: D015823
* SNOMED CT: 231896005
External resources
* eMedicine: med/10
* Orphanet: 67043
* v
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*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
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*[POR]: Portugal
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*[UKR]: Ukraine
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*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Acanthamoeba keratitis
|
c0000880
| 28,010 |
wikipedia
|
https://en.wikipedia.org/wiki/Acanthamoeba_keratitis
| 2021-01-18T18:46:15 |
{"gard": ["9285"], "mesh": ["D015823"], "umls": ["C0000880"], "orphanet": ["67043"], "wikidata": ["Q922971"]}
|
This article includes a list of references, related reading or external links, but its sources remain unclear because it lacks inline citations. Please help to improve this article by introducing more precise citations. (October 2017) (Learn how and when to remove this template message)
Not to be confused with Richner-Hanhart syndrome.
Hanhart syndrome
Other namesHypoglossia-hypodactyly syndrome
CausesUnknown[1]
Hanhart syndrome (also known as Aglossia adactylia; Hypoglossia-hypodactylia syndrome; Peromelia with micrognathia) is a congenital disorder that causes an undeveloped tongue and malformed extremities and fingers.
## Notable cases[edit]
* Nick Santonastasso, actor, Instagram star, and YouTube prankster, who has no legs and only one arm. Noted for playing zombies.[3][4]
## References[edit]
1. ^ "Hanhart Syndrome". NORD (National Organization for Rare Disorders). Retrieved 24 August 2019.
2. ^ rarediseases.org.
3. ^ "Bodybuilder with one arm and no legs becomes internet sensation". The Independent. 20 July 2017.
4. ^ "'Dead' man living: Disabled teen-turned-Internet star 'lives by inspiring others'". Today. October 2016.
* Hanhart syndrome Genetic and Rare Diseases Information Center (GARD)
* Herrmann, J; Pallister, P. D; Gilbert, E. F; Viseskul, C; Bersu, E; Pettersen, J. C; Opitz, J. M (1976). "Studies of malformation syndromes of man XXXXI B: Nosologic studies in the Hanhart and the Möbius syndrome". European Journal of Pediatrics. 122 (1): 19–55. doi:10.1007/BF00445030. PMID 1261566. S2CID 23498856.
* Bersu, Edward T; Pettersen, James C; Charboneau, William J; Opitz, John M (1976). "Studies of malformation syndromes of man XXXXIA: Anatomical studies in the Hanhart syndrome ?A pathogenetic hypothesis". European Journal of Pediatrics. 122 (1): 1–17. doi:10.1007/BF00445029. PMID 1261565. S2CID 10440385.
* Goyal, M; Singh, A; Singh, P; Kapoor, S (2014). "Hypoglossia-hypodactyly syndrome with short stature - a case report". Journal of Clinical and Diagnostic Research. 8 (4): SD01–2. doi:10.7860/JCDR/2014/7809.4281 (inactive 2021-01-11). PMC 4064859. PMID 24959494.CS1 maint: DOI inactive as of January 2021 (link)
* Hypoglossia-hypodactyly syndrome. Orphanet. July 2005; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=989
* Hanhart Syndrome. NORD. February 2008; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1022/viewAbstract
* HYPOGLOSSIA-HYPODACTYLIA. OMIM. September 2012; http://www.omim.org/entry/103300
* Gathwala, Geeta; Singh, Jagjit; Dalal, Poonam; Garg, Ajay (2011). "Hypoglossia-hypodactyly syndrome in a newborn". Journal of Cranio-Maxillofacial Surgery. 39 (2): 99–101. doi:10.1016/j.jcms.2010.06.007. PMID 20673638.
Classification
D
* ICD-10: Q87.2
* OMIM: 103300
* MeSH: C535629
External resources
* Orphanet: 989
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Hanhart syndrome
|
c0595985
| 28,011 |
wikipedia
|
https://en.wikipedia.org/wiki/Hanhart_syndrome
| 2021-01-18T18:45:07 |
{"gard": ["68"], "mesh": ["C535629"], "umls": ["C0595985", "C1863203"], "orphanet": ["989"], "wikidata": ["Q9390457"]}
|
A number sign (#) is used with this entry because of evidence that the X-linked form of Opitz GBBB syndrome (GBBB1) is caused by mutation in the MID1 gene (300552) on Xp22.
Description
The Opitz GBBB syndrome is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects (So et al., 2005).
This disorder was first reported as 2 separate entities, BBB syndrome and G syndrome; subsequent reports of families in which the BBB and G syndromes segregated within a single kindred suggested that they represent a single entity.
### Genetic Heterogeneity
See also GBBB2 (145410), caused by mutation in the SPECC1L gene (614140) on chromosome 22q11.
Clinical Features
Robin et al. (1996) compared the phenotypic features of the X-linked and autosomal (145410) forms of the Opitz syndrome. They found that anteverted nares and posterior pharyngeal cleft were seen only in the X-linked form. However, all other manifestations of the syndrome, such as hypertelorism, swallowing difficulties, hypospadias, and developmental delay, were seen in both forms. For a discussion of clinical features in early reports of this syndrome, see 145410.
Monozygotic twinning, which is unusually frequent in these families, may be a manifestation of the defect; unusually severe cases with early lethality occur as twins (Opitz, 1996).
De Silva et al. (1998) reported a family with X-linked Opitz syndrome in which the diagnosis was established initially in the 64-year-old grandmother after she developed recurrent aspiration pneumonia due to esophageal reflux and pharyngeal dysmotility.
Jacobson et al. (1998) reviewed the spectrum of congenital heart disease and genitourinary anomalies seen in Opitz syndrome. They reported an infant with this disorder and a combination of complex congenital heart disease (double outlet right ventricle with pulmonary atresia, malalignment ventriculoseptal defect, right-sided aortic arch with left ductus arteriosus) and bladder exstrophy. Neither of these defects had previously been reported in association with Opitz syndrome. Since both were midline defects, they further characterized Opitz syndrome as an impairment in midline development.
Brooks et al. (1998) described pituitary macroadenoma and cranial osteoma in a 43-year-old woman, a mother of a boy with typical Opitz syndrome and herself a manifesting heterozygote. She had telecanthus, anteverted nares, and a history of frequent respiratory and urinary tract infections. Her son had hypertelorism, bilaterally cleft lip and palate, hypospadias, and dysphagia with multiple episodes of aspiration pneumonia. Linkage analysis had demonstrated X-linked inheritance in this family (Robin et al., 1995). Brooks et al. (1998) concluded that cranial osteomas are not associated with growth hormone hypersecretion and that therefore cranial osteomas and perhaps pituitary tumors should be included in the nosography of the Opitz GBBB syndrome.
Reviewing all MID1-mutated Opitz syndrome patients thus far reported, De Falco et al. (2003) confirmed that hypertelorism and hypospadias were the most frequent manifestations, being present in almost all individuals. Laryngotracheoesophageal defects were also common anomalies, being manifested by all MID1-mutated male patients. Congenital heart and anal abnormalities were less frequent than reported in the literature. De Falco et al. (2003) included limb defects in the clinical synopsis of Opitz syndrome, because they found MID1-mutated patients showing syndactyly.
Pinson et al. (2004) found vermis hypoplasia or agenesis in 4 of 9 patients with MID1 mutations, including 1 patient with no developmental delay, and suggested that this is an important clinical feature that should be routinely sought even in patients without mental retardation.
Funke et al. (2006) presented a case of Opitz syndrome complicated by congenital chylothorax (603523), a collection of lymph in the pleural space. The mother had marked hypertelorism. The boy also had bilateral cleft lip and palate, hypertelorism, hypospadias, right cryptorchidism, left hydrocele, widow's peak, prominent forehead, low-set and posteriorly angulated ears, and flat, broad nasal bridge. No mutation was detected in MID1. The patient was treated with octreotide, a somatostatin analog, which had proven to be effective for treatment of congenital cases of chylothorax (Goto et al., 2003; Young et al., 2004), intractable post-operative chylothorax (Clarke et al., 2005) and even intestinal lymphangiectasia in Noonan syndrome (163950) (Strehl et al., 2003).
Pathogenesis
Trockenbacher et al. (2001) showed that mutation in the MID1 gene leads to a marked accumulation of the catalytic subunit of protein phosphatase 2A (PP2CA; 176915), a central cellular regulator. This accumulation is caused by an impairment of the E3 ubiquitin ligase activity of the MID1 protein that normally targets PP2CA for degradation through binding to its alpha-4 regulatory subunit, as demonstrated in an embryonic fibroblast line derived from a fetus with Opitz syndrome. Elevated PP2A catalytic subunit caused hypophosphorylation of microtubule-associated proteins, a pathologic mechanism that is consistent with the Opitz syndrome phenotype. The alpha-4 regulatory subunit of PP2A is also known as immunoglobulin-binding protein 1 (IGBP1; 300139). Trockenbacher et al. (2001) pointed out that the IGBP1 gene maps to the same linkage interval in Xq13 as does the FG syndrome (305450). Similar to Opitz syndrome, FG syndrome is characterized by mental retardation combined with imperforate anus, congenital heart defects, and characteristic facies. Trockenbacher et al. (2001) speculated that IGBP1 has a role in the pathogenesis of FG syndrome.
Mapping
Verloes et al. (1995) reported a large pedigree in which Opitz GBBB syndrome cosegregated with a pericentric inversion of the X chromosome: inv(X)(p22.3q26). This suggested the existence of a true X-linked form of GBBB that does not appear phenotypically different from its autosomal counterpart.
Robin et al. (1995) demonstrated that the Opitz BBBG syndrome is a heterogeneous disorder, with X-linked and autosomal (22q-linked; 145410) forms, here designated type I and type II, respectively. In a study of multiple families, they found 3 in which there was linkage to DXS987 in Xp22, with a lod score of 3.53 at zero recombination; and 5 in which there was linkage to D22S345 from chromosome 22q11.2, with a lod score of 3.53 at zero recombination. No phenotypic differences between the 2 linkage types were discerned. In both there are craniofacial anomalies, hypospadias, swallowing difficulties, and developmental delay. The original G family (Opitz et al., 1969) was shown by linkage to have the X-linked form. Robin et al. (1995) pictured an affected brother and sister from family 5 which also showed X linkage; both had widely spaced eyes and the boy had repaired cleft lip and tracheotomy necessitated by a laryngotracheal cleft.
Although the Opitz syndrome maps to Xp22 in approximately the same area as craniofrontonasal dysplasia (304110), Muenke (1996) concluded that they represent separate loci.
Diagnosis
### Prenatal Diagnosis
Hogdall et al. (1989) made the diagnosis of the BBB syndrome at 19 weeks' gestation by ultrasonographic demonstration of hypertelorism and hypospadias. The pedigree showed affected individuals in 3 generations in a pattern consistent with X-linked inheritance with minor expression in the heterozygous females.
Molecular Genetics
Quaderi et al. (1997) identified mutations in the MID1 gene in 3 Opitz syndrome families: a 3-bp deletion involving a methionine codon (300552.0001), a 24-bp duplication causing addition of 8 amino acids (300552.0002), and a 1-bp insertion resulting in a frameshift and loss of 101 amino acid residues (300552.0003). All these mutations were in the C-terminal region of the MID1 gene.
Among 15 patients with Opitz syndrome, Cox et al. (2000) identified 7 novel mutations in the MID1 gene, 2 of which disrupt the N terminus of the protein. The most severe of these, glu115 to ter (E115X; 300552.0005), is predicted to truncate the protein before the B-box motifs. Another mutation, leu626 to pro (L626P; 300552.0004), represented the most C-terminal alteration reported to date. Green fluorescent protein (GFP) fusion constructs of 2 N-terminal mutants showed no evidence of cytoplasmic aggregation, suggesting that this feature is not pathognomonic for X-linked Opitz syndrome.
Pinson et al. (2004) identified 1 previously reported and 5 novel mutations in the MID1 gene in 14 patients with Opitz syndrome.
Among 63 male individuals referred to De Falco et al. (2003) as instances of sporadic or familial X-linked Opitz syndrome, they found novel mutations of the MID1 gene in 11. The mutations were scattered throughout the gene, although more were represented in the 3-prime region. The low frequency of mutations in MID1 and the high variability of the phenotype suggested the involvement of other genes in the causation of OS.
Genotype/Phenotype Correlations
Among 70 patients with clinically diagnosed Opitz syndrome, So et al. (2005) compared the phenotypes of patients with and without a MID1 mutation to determine if there were distinct clinical patterns in these groups. They identified 10 novel mutations, of which 5 were detected in familial cases, 2 in sporadic cases, and 3 in families in which it was not clear whether the disorder was familial or sporadic. X-linked Opitz syndrome patients with MID1 mutations were less severely affected than patients with MID1 mutations reported in previous studies, particularly in terms of functionally significant neurologic, laryngotracheoesophageal (LTE), anal, and cardiac abnormalities. Minor anomalies were more common in patients with MID1 mutations compared to those without mutations. Female MID1 mutation carriers had milder phenotypes compared to male MID1 mutation carriers, with the most common manifestation being hypertelorism in both sexes. The authors found that most of the anomalies they observed did not correlate with MID1 mutation type, with the possible exception of LTE malformations. So et al. (2005) demonstrated the wide spectrum of severity and manifestations of Opitz syndrome, and they emphasized that X-linked Opitz syndrome patients with MID1 mutations may be less severely affected than previously reported.
History
There had long been disagreement as to whether the disorder is an X-linked recessive or an autosomal dominant with male preference. Beginning with the third edition (1971) and continuing through the seventh edition (1986) of Mendelian Inheritance in Man, the disorder was listed in the X-linked catalog. Although the original pedigrees were consistent with either X-linked or autosomal dominant inheritance, male-to-male transmission in subsequent reports suggested that the disorder is inherited as an autosomal dominant. Opitz (1987) gave a follow-up on his original family and presented information on a large number of unpublished cases. In conclusion, he wrote as follows: 'We would petition again that the G syndrome be moved from its present entry in the X-linked catalog (in Mendelian Inheritance in Man) into the autosomal dominant section since there is now good evidence of male-to-male transmission with female involvement almost as common (but generally less severe) than male involvement in newly referred proposita.' As it turned out, there are in fact both X-linked and autosomal dominant (145410) forms of this disorder.
INHERITANCE \- X-linked recessive HEAD & NECK Face \- Prominent forehead \- Flat philtrum Eyes \- Hypertelorism \- Telecanthus Nose \- Broad nasal bridge \- Anteverted nares \- Grooved nasal tip Mouth \- Cleft lip \- Cleft palate \- High-arched palate \- Thin upper lip CARDIOVASCULAR Heart \- Congenital heart defect RESPIRATORY Nasopharynx \- Posterior pharyngeal cleft Lung \- Aspiration ABDOMEN Gastrointestinal \- Dysphagia \- Gastroesophageal reflux \- Imperforate anus GENITOURINARY External Genitalia (Male) \- Hypospadias Internal Genitalia (Male) \- Cryptorchidism SKIN, NAILS, & HAIR Hair \- Widow's peak NEUROLOGIC Central Nervous System \- Developmental delay \- Agenesis of corpus callosum MISCELLANEOUS \- Genetic heterogeneity (see 145410 ) MOLECULAR BASIS \- Caused by mutations in the midline 1 gene (MID1, 300000.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
OPITZ GBBB SYNDROME, TYPE I
|
c2936904
| 28,012 |
omim
|
https://www.omim.org/entry/300000
| 2019-09-22T16:21:01 |
{"doid": ["0050780"], "mesh": ["C567932"], "omim": ["300000"], "orphanet": ["306597", "2745"], "synonyms": ["Alternative titles", "OPITZ GBBB SYNDROME, X-LINKED", "OPITZ SYNDROME", "OPITZ SYNDROME, X-LINKED", "OPITZ-G SYNDROME, TYPE I", "OPITZ BBBG SYNDROME, TYPE I", "HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS", "HYPERTELORISM-HYPOSPADIAS SYNDROME", "TELECANTHUS-HYPOSPADIAS SYNDROME"], "genereviews": ["NBK1327", "NBK5192"]}
|
A rare genetic mandibulofacial dysostosis characterized by bilateral symmetrical oto-mandibular dysplasia including underdeveloped cheekbones (malar hypoplasia), a very small low jaw (micrognathia) and downward-slanting palpebral fissures, coloboma of the lower eyelids, microtia, hearing loss and without abnormalities of the extremities. Intelligence is normal.
## Clinical description
Children present with characteristic facial dysmorphism with bilateral and symmetrical hypoplasia of the malar bones and infra-orbital rim (more than 80% of cases) and of the mandible (78% to 97%) (retrognathia, retrogenia), which results in dental malocclusion, often characterized by a limitation of mouth opening of varying severity. Predominant hypoplasia of soft tissues is observed in the malar bone, inferior orbital rim and cheek. Eye manifestations include downward-slanting palpebral fissures (89%-100%), lower eyelid colobomas between the external and middle thirds (54% to 69%), with absence of eyelashes on the outer third of the lower eyelid. Bilateral conductive hearing loss is frequent (83% to 96%). External ear abnormalities, such as microtia or anotia (77%) are often associated with atresia of the external auditory canals and anomalies of the middle ear ossicles (60%). Breathing and nutrition difficulties may arise during the early years because of the narrowness of the upper respiratory tract and limited mouth opening. Occasionally, there is high palate, cleft palate with or without cleft lip (21% to 33%) and unilateral or bilateral choanal stenosis or atresia (13%-25%). Less common manifestations include salivary gland abnormalities with subsequent dry mucosa, enchondromas and/or pretragal fistulas, spinal and cardiac anomalies. Intellect is typically normal, and disability or delayed motor development has been rarely reported.
## Etiology
The syndrome is caused by mutations in the TCOF1 gene (5q32) encoding the nucleolar phosphoprotein Treacle or in the POLR1C (6p21.1), POLR1D (13q12.2), POLR1B (2q14.1) genes coding for RNA polymerase I and III subunits. Of note, a similar phenotype of acrcofacial dystosis has been associated with PolR1A.
## Diagnostic methods
Diagnosis is based on clinical findings and complementary examinations. Molecular tests confirm the diagnosis.
## Differential diagnosis
Differential diagnoses include Nager syndrome (acrofacial dysostosis) distinguished by limb preaxial defects, Miller syndrome distinguished by limb postaxial defects, oculo-auriculo-vertebral spectrum in its bilateral and slightly asymmetrical form, and Burn-Mckeown syndrome.
## Antenatal diagnosis
Once a pathogenic variant is identified in a family, antenatal molecular diagnosis is possible by molecular analysis of chorionic villus samples (CVS) and amniotic fluid. Preimplantation testing is also possible. Antenatal ultrasound may show typical facial dysmorphism and bilateral ear abnormalities.
## Genetic counseling
Transmission is principally autosomal dominant with 90% penetrance and variable intra- and extra-familial expressivity. The mode of inheritance can be autosomal recessive in case of pathogenic variants in POLR1C and POLR1D genes. Genetic counseling is complicated by the variable expression of the disease and should be discussed with a multidisciplinary antenatal diagnosis team.
## Management and treatment
Management is multidisciplinary. In cases with postnatal respiratory distress, tracheostomy, non-invasive ventilation (NIV) or mandibular distraction should be discussed. Maxillofacial and plastic surgery can correct the soft tissue hypoplasia (facial recontouring with lipostructure), bone hypoplasia (surgical bone distraction, bone grafts), eyelid coloboma and cleft palate (surgical repair). The treatment of the limited opening of the mouth is very difficult. Specialist otorhinolaryngology surgery is required for the abnormalities of the middle ear (functional surgery) and the external ear (reconstruction of the auricles). Management of hearing impairment should be early (hearing aids and functional surgery) to aid normal development.
## Prognosis
The prognosis for milder forms of the disease is favorable with adequate treatment.
* European Reference Network
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Treacher-Collins syndrome
|
c0242387
| 28,013 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=861
| 2021-01-23T18:13:23 |
{"gard": ["9124"], "mesh": ["D008342"], "omim": ["154500", "248390", "613717"], "umls": ["C0242387", "C0265241"], "icd-10": ["Q75.4"], "synonyms": ["Franceschetti-Klein syndrome", "Mandibulofacial dysostosis without limb anomalies"]}
|
Follicular thyroid cancer
Other namesFollicular thyroid carcinoma
Micrograph of follicular thyroid carcinoma showing a location where the cancer grows through the fibrous capsule. H&E stain.
SpecialtyENT surgery, oncology
Follicular thyroid cancer accounts for 15% of thyroid cancer and occurs more commonly in women over 50 years of age. Thyroglobulin (Tg) can be used as a tumor marker for well-differentiated follicular thyroid cancer. Thyroid follicular cells are the thyroid cells responsible for the production and secretion of thyroid hormones.
## Contents
* 1 Cause
* 1.1 Associated mutations
* 2 Hurthle cell variant
* 3 Diagnosis
* 3.1 Classification
* 4 Treatment
* 4.1 Initial treatment
* 4.2 Finding disease recurrence
* 5 Prognosis
* 6 References
* 7 External links
## Cause[edit]
### Associated mutations[edit]
Approximately one-half of follicular thyroid carcinomas have mutations in the Ras subfamily of oncogenes, most notably HRAS, NRAS, and KRAS.[1] Mutations in MINPP1 have likewise been observed, as well as germline PTEN gene mutations responsible for Cowden syndrome of which follicular thyroid cancer is a feature. Also, a chromosomal translocation specific for follicular thyroid carcinomas is one between paired box gene 8 (PAX-8), a gene important in thyroid development, and the gene encoding peroxisome proliferator-activated receptor γ 1 (PPARγ1), a nuclear hormone receptor contributing to terminal differentiation of cells. The PAX8-PPARγ1 fusion is present in approximately one-third of follicular thyroid carcinomas, specifically those cancers with a t(2;3)(q13;p25) translocation, permitting juxtaposition of portions of both genes.[1] Tumors tend carry either a RAS mutation or a PAX8-PPARγ1 fusion, and only rarely are both genetic abnormalities present in the same case.[1] Thus, follicular thyroid carcinomas seem to arise by two distinct and virtually nonoverlapping molecular pathways.[1]
## Hurthle cell variant[edit]
Micrograph of a Hurthle cell neoplasm.
Hurthle cell thyroid cancer is often considered a variant of follicular cell carcinoma.[2][3] Hurthle cell forms are more likely than follicular carcinomas to be bilateral and multifocal and to metastasize to lymph nodes. Like follicular carcinoma, unilateral hemithyroidectomy is performed for non-invasive disease, and total thyroidectomy for invasive disease.
## Diagnosis[edit]
It is difficult to correctly diagnose follicular neoplasms (FNs) on fine-needle aspiration cytology (FNAC) because it shares many cytological features with other mimicking lesions.[4]
### Classification[edit]
It is impossible to distinguish between follicular adenoma and carcinoma on cytological grounds. If fine needle aspiration cytology (FNAC) suggests follicular neoplasm, thyroid lobectomy should be performed to establish the histopathological diagnosis. Features sine qua non for the diagnosis of follicular carcinoma are capsular invasion and vascular invasion by tumor cells. Still, focuses of the capsular invasion should be carefully evaluated and discriminated from the capsular rupture due to FNA penetration resulting in WHAFFT (worrisome histologic alterations following FNA of thyroid).
* Follicular carcinoma tends to metastasize to lung and bone via the bloodstream.
* Papillary thyroid carcinoma commonly metastasizes to cervical lymph nodes.
HMGA2 has been proposed as a marker to identify malignant tumors.[5]
## Treatment[edit]
Treatment is usually surgical, followed by radioiodine.
### Initial treatment[edit]
* If follicular cells are found on cytological testing, it is common to carry out hemithyroidectomy to distinguish between follicular adenoma and follicular carcinoma on histopathological examination, proceeding to completion thyroidectomy and postoperative radioiodine ablation where carcinoma is confirmed. This way total thyroidectomy is not carried out unnecessarily.
* Thyroidectomy is invariably followed by radioiodine treatment at levels from 50 to 200 millicuries following two weeks of a low iodine diet (LID). Occasionally treatment must be repeated if annual scans indicate remaining cancerous tissue. Some physicians favor administering the maximum safe dose (calculated based on a number of factors), while others favor administering smaller doses, which may still be effective in ablating all thyroid tissue. I-131 is used for ablation of the thyroid tissue.
* Minimally invasive thyroidectomy has been used in recent years in cases where the nodules are small.[6]
### Finding disease recurrence[edit]
Some studies have shown that thyroglobulin (Tg) testing combined with neck ultrasound is more productive in finding disease recurrence than full- or whole-body scans (WBS) using radioactive iodine. However, current protocol (in the USA) suggests a small number of clean annual WBS are required before relying on Tg testing plus neck ultrasound. When needed, whole body scans consist of withdrawal from thyroxine medication and/or injection of recombinant human Thyroid stimulating hormone (TSH). In both cases, a low iodine diet regimen must also be followed to optimize the takeup of the radioactive iodine dose. Low dose radioiodine of a few millicuries is administered. Full body nuclear medicine scan follows using a gamma camera. Scan doses of radioactive iodine may be I131 or I123.
Recombinant human TSH, commercial name Thyrogen, is produced in cell culture from genetically engineered hamster cells.
## Prognosis[edit]
The overall 5-year survival rate for follicular thyroid cancer is 91%, and the 10-year survival rate is 85%.[7]
By overall cancer staging into stages I to IV, follicular thyroid cancer has a 5-year survival rate of 100% for stages I and II, 71% for stage III, and 50% for stage IV.[8]
Compared to other variants of Follicular cell derived thyroid cancer, bone metastases are commonly associated with follicular carcinoma. In the present study a high rate of bone metastases of 34% was observed.[9]
## References[edit]
1. ^ a b c d Chapter 20 in: Mitchell, Richard Sheppard; Kumar, Vinay; Abbas, Abul K.; Fausto, Nelson (2007). Robbins Basic Pathology. Philadelphia: Saunders. ISBN 978-1-4160-2973-1. 8th edition.
2. ^ Kushchayeva Y, Duh QY, Kebebew E, D'Avanzo A, Clark OH (2007). "Comparison of clinical characteristics at diagnosis and during follow-up in 118 patients with Hurthle cell or follicular thyroid cancer". Am J Surg. 195 (4): 457–62. doi:10.1016/j.amjsurg.2007.06.001. PMID 18070728.
3. ^ Hu MI, Vassilopoulou-Sellin R, Lustig R, Lamont JP. "Thyroid and Parathyroid Cancers" in Pazdur R, Wagman LD, Camphausen KA, Hoskins WJ (Eds) Cancer Management: A Multidisciplinary Approach. 11 ed. 2008.
4. ^ Han, Kanghee; Ha, Hwa-Jeong; Kong, Joon Seog; Kim, Jung-Soon; Myung, Jae Kyung; Koh, Jae Soo; Park, Sunhoo; Shin, Myung-Soon; Song, Woo-Tack; Seol, Hye Sil; Lee, Seung-Sook (March 2018). "Cytological Features That Differentiate Follicular Neoplasm from Mimicking Lesions". Journal of Pathology and Translational Medicine. 52 (2): 110–120. doi:10.4132/jptm.2018.01.17. ISSN 2383-7837. PMC 5859246. PMID 29374960.
5. ^ Belge G, Meyer A, Klemke M, et al. (2008). "Upregulation of HMGA2 in thyroid carcinomas: A novel molecular marker to distinguish between benign and malignant follicular neoplasias". Genes Chromosomes Cancer. 47 (1): 56–63. doi:10.1002/gcc.20505. PMID 17943974.
6. ^ Hegazy MA, Khater AA, Setit AE, et al. (2007). "Minimally invasive video-assisted thyroidectomy for small follicular thyroid nodules". World J Surg. 31 (9): 1743–50. doi:10.1007/s00268-007-9147-7. PMID 17653588.
7. ^ Numbers from National Cancer Database in the US, from Page 10 in: F. Grünwald; Biersack, H. J.; Grںunwald, F. (2005). Thyroid cancer. Berlin: Springer. ISBN 978-3-540-22309-2. (Note:Book also states that the 14% 10-year survival for anaplastic thyroid cancer was overestimated
8. ^ cancer.org > Thyroid Cancer By the American Cancer Society. In turn citing: AJCC Cancer Staging Manual (7th ed).
9. ^ Pal, Pooja; Singh, Bikramjit; Kane, Shubhada; Chaturvedi, Pankaj (March 2018). "Bone Metastases in Follicular Carcinoma of Thyroid". Indian Journal of Otolaryngology and Head & Neck Surgery. 70 (1): 10–14. doi:10.1007/s12070-017-1170-x. ISSN 2231-3796. PMC 5807283. PMID 29456936.
## External links[edit]
Classification
D
* ICD-10: C73
* ICD-9-CM: 193
* OMIM: 188470
* MeSH: D013964
External resources
* eMedicine: med/804
* Thyroid cancer at DMOZ
* Cancer Management Handbook: Thyroid and Parathyroid Cancers
* Management Guidelines for Patients with Thyroid Nodules and Differentiated Thyroid Cancer The American Thyroid Association Guidelines Taskforce (2015).
* v
* t
* e
Tumours of endocrine glands
Pancreas
* Pancreatic cancer
* Pancreatic neuroendocrine tumor
* α: Glucagonoma
* β: Insulinoma
* δ: Somatostatinoma
* G: Gastrinoma
* VIPoma
Pituitary
* Pituitary adenoma: Prolactinoma
* ACTH-secreting pituitary adenoma
* GH-secreting pituitary adenoma
* Craniopharyngioma
* Pituicytoma
Thyroid
* Thyroid cancer (malignant): epithelial-cell carcinoma
* Papillary
* Follicular/Hurthle cell
* Parafollicular cell
* Medullary
* Anaplastic
* Lymphoma
* Squamous-cell carcinoma
* Benign
* Thyroid adenoma
* Struma ovarii
Adrenal tumor
* Cortex
* Adrenocortical adenoma
* Adrenocortical carcinoma
* Medulla
* Pheochromocytoma
* Neuroblastoma
* Paraganglioma
Parathyroid
* Parathyroid neoplasm
* Adenoma
* Carcinoma
Pineal gland
* Pinealoma
* Pinealoblastoma
* Pineocytoma
MEN
* 1
* 2A
* 2B
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Follicular thyroid cancer
|
c0206682
| 28,014 |
wikipedia
|
https://en.wikipedia.org/wiki/Follicular_thyroid_cancer
| 2021-01-18T18:29:40 |
{"gard": ["5206"], "mesh": ["D018263"], "umls": ["C0206682"], "icd-9": ["193"], "icd-10": ["C73"], "orphanet": ["319487"], "wikidata": ["Q5464665"]}
|
For other uses, see Dengue fever (disambiguation).
Tropical disease caused by the dengue virus, transmitted by mosquito
Dengue fever
Other namesDengue, breakbone fever[1][2]
The typical rash seen in dengue fever
Pronunciation
* /ˈdɛŋɡeɪ, -ɡi/
SpecialtyInfectious disease
SymptomsFever, headache, muscle and joint pain, rash[1][2]
ComplicationsBleeding, low levels of blood platelets, dangerously low blood pressure[2]
Usual onset3–14 days after exposure[2]
Duration2–7 days[1]
CausesDengue virus by Aedes mosquitos[1]
Diagnostic methodDetecting antibodies to the virus or its RNA[2]
Differential diagnosisMalaria, yellow fever, viral hepatitis, leptospirosis[3]
PreventionDengue fever vaccine, decreasing mosquito exposure[1][4]
TreatmentSupportive care, intravenous fluids, blood transfusions[2]
Frequency390 million per year[5]
Deaths~40,000 (2017)[6]
Dengue fever is a mosquito-borne tropical disease caused by the dengue virus.[1] Symptoms typically begin three to fourteen days after infection.[2] These may include a high fever, headache, vomiting, muscle and joint pains, and a characteristic skin rash.[1][2] Recovery generally takes two to seven days.[1] In a small proportion of cases, the disease develops into severe dengue, also known as dengue hemorrhagic fever, resulting in bleeding, low levels of blood platelets and blood plasma leakage, or into dengue shock syndrome, where dangerously low blood pressure occurs.[1][2]
Dengue is spread by several species of female mosquitoes of the Aedes genus, principally Aedes aegypti.[1][2] The virus has five serotypes;[7][8] infection with one type usually gives lifelong immunity to that type, but only short-term immunity to the others.[1] Subsequent infection with a different type increases the risk of severe complications.[1] A number of tests are available to confirm the diagnosis including detecting antibodies to the virus or its RNA.[2]
A vaccine for dengue fever has been approved and is commercially available in a number of countries.[4][9] As of 2018, the vaccine is only recommended in individuals who have been previously infected, or in populations with a high rate of prior infection by age nine.[10][5] Other methods of prevention include reducing mosquito habitat and limiting exposure to bites.[1] This may be done by getting rid of or covering standing water and wearing clothing that covers much of the body.[1] Treatment of acute dengue is supportive and includes giving fluid either by mouth or intravenously for mild or moderate disease.[2] For more severe cases, blood transfusion may be required.[2] About half a million people require hospital admission every year.[1] Paracetamol (acetaminophen) is recommended instead of nonsteroidal anti-inflammatory drugs (NSAIDs) for fever reduction and pain relief in dengue due to an increased risk of bleeding from NSAID use.[2][11][12]
Dengue has become a global problem since the Second World War and is common in more than 120 countries, mainly in Southeast Asia, South Asia and South America.[5][13][14] About 390 million people are infected a year and approximately 40,000 die.[5][6] In 2019 a significant increase in the number of cases was seen.[15] The earliest descriptions of an outbreak date from 1779.[14] Its viral cause and spread were understood by the early 20th century.[16] Apart from eliminating the mosquitos, work is ongoing for medication targeted directly at the virus.[17] It is classified as a neglected tropical disease.[18]
## Contents
* 1 Signs and symptoms
* 1.1 Clinical course
* 1.2 Associated problems
* 2 Cause
* 2.1 Virology
* 2.2 Transmission
* 2.3 Predisposition
* 3 Mechanism
* 3.1 Viral replication
* 3.2 Severe disease
* 4 Diagnosis
* 4.1 Classification
* 4.2 Laboratory tests
* 5 Prevention
* 5.1 Vaccine
* 5.2 Anti-dengue day
* 6 Management
* 7 Prognosis
* 8 Epidemiology
* 9 History
* 9.1 Etymology
* 10 Society and culture
* 10.1 Blood donation
* 10.2 Awareness efforts
* 11 Research
* 11.1 Vector
* 11.2 Wolbachia
* 11.3 Treatment
* 12 References
* 13 External links
## Signs and symptoms[edit]
Schematic depiction of the symptoms of dengue fever
Clinical course of dengue fever[19]
Typically, people infected with dengue virus are asymptomatic (80%) or have only mild symptoms such as an uncomplicated fever.[20][21][22] Others have more severe illness (5%), and in a small proportion it is life-threatening.[20][22] The incubation period (time between exposure and onset of symptoms) ranges from 3 to 14 days, but most often it is 4 to 7 days.[23] Therefore, travelers returning from endemic areas are unlikely to have dengue fever if symptoms start more than 14 days after arriving home.[13] Children often experience symptoms similar to those of the common cold and gastroenteritis (vomiting and diarrhea)[24] and have a greater risk of severe complications,[13][25] though initial symptoms are generally mild but include high fever.[25]
### Clinical course[edit]
The characteristic symptoms of dengue are sudden-onset fever, headache (typically located behind the eyes), muscle and joint pains, and a rash. An alternative name for dengue, "breakbone fever", comes from the associated muscle and joint pains.[20][26] The course of infection is divided into three phases: febrile, critical, and recovery.[19]
The febrile phase involves high fever, potentially over 40 °C (104 °F), and is associated with generalized pain and a headache; this usually lasts two to seven days.[19][26] Nausea and vomiting may also occur.[25] A rash occurs in 50–80% of those with symptoms[26][27] in the first or second day of symptoms as flushed skin, or later in the course of illness (days 4–7), as a measles-like rash.[27][28] A rash described as "islands of white in a sea of red" has also been observed.[29] Some petechiae (small red spots that do not disappear when the skin is pressed, which are caused by broken capillaries) can appear at this point,[19] as may some mild bleeding from the mucous membranes of the mouth and nose.[13][26] The fever itself is classically biphasic or saddleback in nature, breaking and then returning for one or two days.[28][29]
In some people, the disease proceeds to a critical phase as fever resolves.[25] During this period, there is leakage of plasma from the blood vessels, typically lasting one to two days.[19] This may result in fluid accumulation in the chest and abdominal cavity as well as depletion of fluid from the circulation and decreased blood supply to vital organs.[19] There may also be organ dysfunction and severe bleeding, typically from the gastrointestinal tract.[13][19] Shock (dengue shock syndrome) and hemorrhage (dengue hemorrhagic fever) occur in less than 5% of all cases of dengue;[13] however, those who have previously been infected with other serotypes of dengue virus ("secondary infection") are at an increased risk.[13][30] This critical phase, while rare, occurs relatively more commonly in children and young adults.[25]
The recovery phase occurs next, with resorption of the leaked fluid into the bloodstream.[19] This usually lasts two to three days.[13] The improvement is often striking, and can be accompanied with severe itching and a slow heart rate.[13][19] Another rash may occur with either a maculopapular or a vasculitic appearance, which is followed by peeling of the skin.[25] During this stage, a fluid overload state may occur; if it affects the brain, it may cause a reduced level of consciousness or seizures.[13] A feeling of fatigue may last for weeks in adults.[25]
The rash of dengue fever in the acute stage of the infection blanches when pressed
The rash that commonly forms during the recovery from dengue fever with its classic islands of white in a sea of red.
### Associated problems[edit]
Dengue can occasionally affect several other body systems,[19] either in isolation or along with the classic dengue symptoms.[24] A decreased level of consciousness occurs in 0.5–6% of severe cases, which is attributable either to inflammation of the brain by the virus or indirectly as a result of impairment of vital organs, for example, the liver.[24][29][31]
Other neurological disorders have been reported in the context of dengue, such as transverse myelitis and Guillain–Barré syndrome.[24][31] Infection of the heart and acute liver failure are among the rarer complications.[13][19]
A pregnant woman who develops dengue is at higher risk of miscarriage, low birth weight birth, and premature birth.[32]
## Cause[edit]
### Virology[edit]
Main article: Dengue virus
A TEM micrograph showing dengue virus virions (the cluster of dark dots near the center)
Dengue fever virus (DENV) is an RNA virus of the family Flaviviridae; genus Flavivirus. Other members of the same genus include yellow fever virus, West Nile virus, Zika virus, St. Louis encephalitis virus, Japanese encephalitis virus, tick-borne encephalitis virus, Kyasanur forest disease virus, and Omsk hemorrhagic fever virus.[29] Most are transmitted by arthropods (mosquitos or ticks), and are therefore also referred to as arboviruses (arthropod-borne viruses).[29]
The dengue virus genome (genetic material) contains about 11,000 nucleotide bases, which code for the three different types of protein molecules (C, prM and E) that form the virus particle and seven other non-structural protein molecules (NS1, NS2a, NS2b, NS3, NS4a, NS4b, NS5) that are found in infected host cells only and are required for replication of the virus.[30][33] There are five[7] strains of the virus, called serotypes, of which the first four are referred to as DENV-1, DENV-2, DENV-3 and DENV-4.[21] The fifth type was announced in 2013.[7] The distinctions between the serotypes are based on their antigenicity.[34]
### Transmission[edit]
The mosquito Aedes aegypti feeding on a human host
Dengue virus is primarily transmitted by Aedes mosquitos, particularly A. aegypti.[21] These mosquitos usually live between the latitudes of 35° North and 35° South below an elevation of 1,000 metres (3,300 ft).[21] They typically bite during the early morning and in the evening,[35][36] but they may bite and thus spread infection at any time of day.[37] Other Aedes species that transmit the disease include A. albopictus, A. polynesiensis and A. scutellaris.[21] Humans are the primary host of the virus,[21][29] but it also circulates in nonhuman primates.[38] An infection can be acquired via a single bite.[39] A female mosquito that takes a blood meal from a person infected with dengue fever, during the initial 2- to 10-day febrile period, becomes itself infected with the virus in the cells lining its gut.[40] About 8–10 days later, the virus spreads to other tissues including the mosquito's salivary glands and is subsequently released into its saliva. The virus seems to have no detrimental effect on the mosquito, which remains infected for life.[23] Aedes aegypti is particularly involved, as it prefers to lay its eggs in artificial water containers, to live in close proximity to humans, and to feed on people rather than other vertebrates.[23]
Dengue can also be transmitted via infected blood products and through organ donation.[41][42] In countries such as Singapore, where dengue is endemic, the risk is estimated to be between 1.6 and 6 per 10,000 transfusions.[43] Vertical transmission (from mother to child) during pregnancy or at birth has been reported.[44] Other person-to-person modes of transmission, including sexual transmission, have also been reported, but are very unusual.[26][45] The genetic variation in dengue viruses is region specific, suggestive that establishment into new territories is relatively infrequent, despite dengue emerging in new regions in recent decades.[25]
### Predisposition[edit]
Severe disease is more common in babies and young children, and in contrast to many other infections, it is more common in children who are relatively well nourished.[13] Other risk factors for severe disease include female sex, high body mass index,[25] and viral load.[46] While each serotype can cause the full spectrum of disease,[30] virus strain is a risk factor.[25] Infection with one serotype is thought to produce lifelong immunity to that type, but only short-term protection against the other three.[21][26] The risk of severe disease from secondary infection increases if someone previously exposed to serotype DENV-1 contracts serotype DENV-2 or DENV-3, or if someone previously exposed to DENV-3 acquires DENV-2.[33] Dengue can be life-threatening in people with chronic diseases such as diabetes and asthma.[33]
Polymorphisms (normal variations) in particular genes have been linked with an increased risk of severe dengue complications. Examples include the genes coding for the proteins TNFα, mannan-binding lectin,[20] CTLA4, TGFβ,[30] DC-SIGN, PLCE1, and particular forms of human leukocyte antigen from gene variations of HLA-B.[25][33] A common genetic abnormality, especially in Africans, known as glucose-6-phosphate dehydrogenase deficiency, appears to increase the risk.[46] Polymorphisms in the genes for the vitamin D receptor and FcγR seem to offer protection against severe disease in secondary dengue infection.[33]
## Mechanism[edit]
When a mosquito carrying dengue virus bites a person, the virus enters the skin together with the mosquito's saliva. It binds to and enters white blood cells, and reproduces inside the cells while they move throughout the body. The white blood cells respond by producing several signaling proteins, such as cytokines and interferons, which are responsible for many of the symptoms, such as the fever, the flu-like symptoms, and the severe pains. In severe infection, the virus production inside the body is greatly increased, and many more organs (such as the liver and the bone marrow) can be affected. Fluid from the bloodstream leaks through the wall of small blood vessels into body cavities due to capillary permeability. As a result, less blood circulates in the blood vessels, and the blood pressure becomes so low that it cannot supply sufficient blood to vital organs. Furthermore, dysfunction of the bone marrow due to infection of the stromal cells leads to reduced numbers of platelets, which are necessary for effective blood clotting; this increases the risk of bleeding, the other major complication of dengue fever.[46]
### Viral replication[edit]
Once inside the skin, dengue virus binds to Langerhans cells (a population of dendritic cells in the skin that identifies pathogens).[46] The virus enters the cells through binding between viral proteins and membrane proteins on the Langerhans cell, specifically, the C-type lectins called DC-SIGN, mannose receptor and CLEC5A.[30] DC-SIGN, a non-specific receptor for foreign material on dendritic cells, seems to be the main point of entry.[33] The dendritic cell moves to the nearest lymph node. Meanwhile, the virus genome is translated in membrane-bound vesicles on the cell's endoplasmic reticulum, where the cell's protein synthesis apparatus produces new viral proteins that replicate the viral RNA and begin to form viral particles. Immature virus particles are transported to the Golgi apparatus, the part of the cell where some of the proteins receive necessary sugar chains (glycoproteins). The now mature new viruses are released by exocytosis. They are then able to enter other white blood cells, such as monocytes and macrophages.[30]
The initial reaction of infected cells is to produce interferon, a cytokine that raises many defenses against viral infection through the innate immune system by augmenting the production of a large group of proteins mediated by the JAK-STAT pathway. Some serotypes of the dengue virus appear to have mechanisms to slow down this process. Interferon also activates the adaptive immune system, which leads to the generation of antibodies against the virus as well as T cells that directly attack any cell infected with the virus.[30] Various antibodies are generated; some bind closely to the viral proteins and target them for phagocytosis (ingestion by specialized cells and destruction), but some bind the virus less well and appear instead to deliver the virus into a part of the phagocytes where it is not destroyed but can replicate further.[30]
### Severe disease[edit]
In antibody-dependent enhancement (ADE), antibodies bind to both viral particles and Fc gamma receptors expressed on immune cells, increasing the likelihood that the viruses will infect those cells.
It is not entirely clear why secondary infection with a different strain of dengue virus places people at risk of dengue hemorrhagic fever and dengue shock syndrome. The most widely accepted hypothesis is that of antibody-dependent enhancement (ADE). The exact mechanism behind ADE is unclear. It may be caused by poor binding of non-neutralizing antibodies and delivery into the wrong compartment of white blood cells that have ingested the virus for destruction.[30][33] There is a suspicion that ADE is not the only mechanism underlying severe dengue-related complications,[20][31] and various lines of research have implied a role for T cells and soluble factors such as cytokines and the complement system.[46]
Severe disease is marked by the problems of capillary permeability (an allowance of fluid and protein normally contained within the blood to pass) and disordered blood clotting.[24][25] These changes appear associated with a disordered state of the endothelial glycocalyx, which acts as a molecular filter of blood components.[25] Leaky capillaries (and the critical phase) are thought to be caused by an immune system response.[25] Other processes of interest include infected cells that become necrotic—which affect both coagulation and fibrinolysis (the opposing systems of blood clotting and clot degradation)—and low platelets in the blood, also a factor in normal clotting.[46]
## Diagnosis[edit]
Warning signs[25][47]
Worsening abdominal pain
Ongoing vomiting
Liver enlargement
Mucosal bleeding
High hematocrit with low platelets
Lethargy or restlessness
Serosal effusions
The diagnosis of dengue is typically made clinically, on the basis of reported symptoms and physical examination; this applies especially in endemic areas.[20] However, early disease can be difficult to differentiate from other viral infections.[13] A probable diagnosis is based on the findings of fever plus two of the following: nausea and vomiting, rash, generalized pains, low white blood cell count, positive tourniquet test, or any warning sign (see table) in someone who lives in an endemic area.[47] Warning signs typically occur before the onset of severe dengue.[19] The tourniquet test, which is particularly useful in settings where no laboratory investigations are readily available, involves the application of a blood pressure cuff at between the diastolic and systolic pressure for five minutes, followed by the counting of any petechial hemorrhages; a higher number makes a diagnosis of dengue more likely with the cut off being more than 10 to 20 per 1 inch2 (6.25 cm2).[19][48]
The diagnosis should be considered in anyone who develops a fever within two weeks of being in the tropics or subtropics.[25] It can be difficult to distinguish dengue fever and chikungunya, a similar viral infection that shares many symptoms and occurs in similar parts of the world to dengue.[26] Often, investigations are performed to exclude other conditions that cause similar symptoms, such as malaria, leptospirosis, viral hemorrhagic fever, typhoid fever, meningococcal disease, measles, and influenza.[13][49] Zika fever also has similar symptoms as dengue.[50]
The earliest change detectable on laboratory investigations is a low white blood cell count, which may then be followed by low platelets and metabolic acidosis.[13] A moderately elevated level of aminotransferase (AST and ALT) from the liver is commonly associated with low platelets and white blood cells.[25] In severe disease, plasma leakage results in hemoconcentration (as indicated by a rising hematocrit) and hypoalbuminemia.[13] Pleural effusions or ascites can be detected by physical examination when large,[13] but the demonstration of fluid on ultrasound may assist in the early identification of dengue shock syndrome.[13][20] The use of ultrasound is limited by lack of availability in many settings.[20] Dengue shock syndrome is present if pulse pressure drops to ≤ 20 mm Hg along with peripheral vascular collapse.[25] Peripheral vascular collapse is determined in children via delayed capillary refill, rapid heart rate, or cold extremities.[19] While warning signs are an important aspect for early detection of potential serious disease, the evidence for any specific clinical or laboratory marker is weak.[51]
### Classification[edit]
The World Health Organization's 2009 classification divides dengue fever into two groups: uncomplicated and severe.[20][47] This replaces the 1997 WHO classification, which needed to be simplified as it had been found to be too restrictive, though the older classification is still widely used[47] including by the World Health Organization's Regional Office for Southeast Asia as of 2011[update].[52] Severe dengue is defined as that associated with severe bleeding, severe organ dysfunction, or severe plasma leakage while all other cases are uncomplicated.[47] The 1997 classification divided dengue into an undifferentiated fever, dengue fever, and dengue hemorrhagic fever.[13][53] Dengue hemorrhagic fever was subdivided further into grades I–IV. Grade I is the presence only of easy bruising or a positive tourniquet test in someone with fever, grade II is the presence of spontaneous bleeding into the skin and elsewhere, grade III is the clinical evidence of shock, and grade IV is shock so severe that blood pressure and pulse cannot be detected.[53] Grades III and IV are referred to as "dengue shock syndrome".[47][53]
### Laboratory tests[edit]
Graph of when laboratory tests for dengue fever become positive. Day zero refers to the start of symptoms, 1st refers to in those with a primary infection, and 2nd refers to in those with a secondary infection.[25]
The diagnosis of dengue fever may be confirmed by microbiological laboratory testing.[47][54] This can be done by virus isolation in cell cultures, nucleic acid detection by PCR, viral antigen detection (such as for NS1) or specific antibodies (serology).[33][49] Virus isolation and nucleic acid detection are more accurate than antigen detection, but these tests are not widely available due to their greater cost.[49] Detection of NS1 during the febrile phase of a primary infection may be greater than 90% sensitive however is only 60–80% in subsequent infections.[25] All tests may be negative in the early stages of the disease.[13][33] PCR and viral antigen detection are more accurate in the first seven days.[25] In 2012 a PCR test was introduced that can run on equipment used to diagnose influenza; this is likely to improve access to PCR-based diagnosis.[55]
These laboratory tests are only of diagnostic value during the acute phase of the illness with the exception of serology. Tests for dengue virus-specific antibodies, types IgG and IgM, can be useful in confirming a diagnosis in the later stages of the infection. Both IgG and IgM are produced after 5–7 days. The highest levels (titres) of IgM are detected following a primary infection, but IgM is also produced in reinfection. IgM becomes undetectable 30–90 days after a primary infection, but earlier following re-infections. IgG, by contrast, remains detectable for over 60 years and, in the absence of symptoms, is a useful indicator of past infection. After a primary infection, IgG reaches peak levels in the blood after 14–21 days. In subsequent re-infections, levels peak earlier and the titres are usually higher. Both IgG and IgM provide protective immunity to the infecting serotype of the virus.[23][26][33] In testing for IgG and IgM antibodies there may be cross-reactivity with other flaviviruses which may result in a false positive after recent infections or vaccinations with yellow fever virus or Japanese encephalitis.[25] The detection of IgG alone is not considered diagnostic unless blood samples are collected 14 days apart and a greater than fourfold increase in levels of specific IgG is detected. In a person with symptoms, the detection of IgM is considered diagnostic.[23]
## Prevention[edit]
A 1920s photograph of efforts to disperse standing water and thus decrease mosquito populations
Prevention depends on control of and protection from the bites of the mosquito that transmits it.[35][56] The World Health Organization recommends an Integrated Vector Control program consisting of five elements:[35]
1. Advocacy, social mobilization and legislation to ensure that public health bodies and communities are strengthened;
2. Collaboration between the health and other sectors (public and private);
3. An integrated approach to disease control to maximize the use of resources;
4. Evidence-based decision making to ensure any interventions are targeted appropriately; and
5. Capacity-building to ensure an adequate response to the local situation.
The primary method of controlling A. aegypti is by eliminating its habitats.[35] This is done by getting rid of open sources of water, or if this is not possible, by adding insecticides or biological control agents to these areas.[35] Generalized spraying with organophosphate or pyrethroid insecticides, while sometimes done, is not thought to be effective.[22] Reducing open collections of water through environmental modification is the preferred method of control, given the concerns of negative health effects from insecticides and greater logistical difficulties with control agents.[35] People can prevent mosquito bites by wearing clothing that fully covers the skin, using mosquito netting while resting, and/or the application of insect repellent (DEET being the most effective).[39] While these measures can be an effective means of reducing an individual's risk of exposure, they do little in terms of mitigating the frequency of outbreaks, which appear to be on the rise in some areas, probably due to urbanization increasing the habitat of A. aegypti.[7] The range of the disease also appears to be expanding possibly due to climate change.[7]
### Vaccine[edit]
In 2016 a partially effective vaccine for dengue fever became commercially available in the Philippines and Indonesia.[4][57] It has been approved for use by Mexico, Brazil, El Salvador, Costa Rica, Singapore, Paraguay, much of Europe, and the United States.[9][57][58] The vaccine is only recommended in individuals who have had a prior dengue infection or in populations where most (>80%) of people have been infected by age 9.[10][59] In those who have not had a prior infection there is evidence it may worsen subsequent infections.[9][10][5] For this reason Prescrire does not see it as suitable for wide scale immunization, even in areas where the disease is common.[60]
The vaccine is produced by Sanofi and goes by the brand name Dengvaxia.[61] It is based on a weakened combination of the yellow fever virus and each of the four dengue serotypes.[36][62] Studies of the vaccine found it was 66% effective and prevented more than 80 to 90% of severe cases.[59] This is less than wished for by some.[63] In Indonesia it costs about US$207 for the recommended three doses.[57]
Given the limitations of the current vaccine, research on vaccines continues, and the fifth serotype may be factored in.[7] One of the concerns is that a vaccine could increase the risk of severe disease through antibody-dependent enhancement (ADE).[64] The ideal vaccine is safe, effective after one or two injections, covers all serotypes, does not contribute to ADE, is easily transported and stored, and is both affordable and cost-effective.[64]
### Anti-dengue day[edit]
A poster in Tampines, Singapore, notifying people that there are ten or more cases of dengue in the neighbourhood (November 2015).
International Anti-Dengue Day is observed every year on 15 June.[65] The idea was first agreed upon in 2010 with the first event held in Jakarta, Indonesia in 2011.[65] Further events were held in 2012 in Yangon, Myanmar and in 2013 in Vietnam.[65] Goals are to increase public awareness about dengue, mobilize resources for its prevention and control and, to demonstrate the Southeast Asian region's commitment in tackling the disease.[66]
## Management[edit]
There are no specific antiviral drugs for dengue; however, maintaining proper fluid balance is important.[25] Treatment depends on the symptoms.[12] Those who can drink, are passing urine, have no "warning signs" and are otherwise healthy can be managed at home with daily follow-up and oral rehydration therapy.[12] Those who have other health problems, have "warning signs", or cannot manage regular follow-up should be cared for in hospital.[13][12] In those with severe dengue care should be provided in an area where there is access to an intensive care unit.[12]
Intravenous hydration, if required, is typically only needed for one or two days.[12] In children with shock due to dengue a rapid dose of 20 mL/kg is reasonable.[67] The rate of fluid administration is then titrated to a urinary output of 0.5–1 mL/kg/h, stable vital signs and normalization of hematocrit.[13] The smallest amount of fluid required to achieve this is recommended.[12]
Invasive medical procedures such as nasogastric intubation, intramuscular injections and arterial punctures are avoided, in view of the bleeding risk.[13] Paracetamol (acetaminophen) is used for fever and discomfort while NSAIDs such as ibuprofen and aspirin are avoided as they might aggravate the risk of bleeding.[12] Blood transfusion is initiated early in people presenting with unstable vital signs in the face of a decreasing hematocrit, rather than waiting for the hemoglobin concentration to decrease to some predetermined "transfusion trigger" level.[68] Packed red blood cells or whole blood are recommended, while platelets and fresh frozen plasma are usually not.[68] There is not enough evidence to determine if corticosteroids have a positive or negative effect in dengue fever.[69]
During the recovery phase intravenous fluids are discontinued to prevent a state of fluid overload.[13] If fluid overload occurs and vital signs are stable, stopping further fluid may be all that is needed.[68] If a person is outside of the critical phase, a loop diuretic such as furosemide may be used to eliminate excess fluid from the circulation.[68]
## Prognosis[edit]
Most people with dengue recover without any ongoing problems.[47] The risk of death among those with severe dengue is 0.8% to 2.5%,[70] and with adequate treatment this is less than 1%.[47] However, those who develop significantly low blood pressure may have a fatality rate of up to 26%.[13] The risk of death among children less than five years old is four times greater than among those over the age of 10.[70] Elderly people are also at higher risk of a poor outcome.[70]
## Epidemiology[edit]
See also: Dengue fever outbreaks
A. aegypti and Dengue distribution in 2006
* * *
A. aegypti distribution with history of epidemic dengue
A. aegypti distribution without history of epidemic dengue
Dengue fever deaths per million persons in 2012
0
1
2
3
4–8
9-561
Dengue is common in more than 120 countries.[5] In 2013 it caused about 60 million symptomatic infections worldwide, with 18% admitted to hospital and about 13,600 deaths.[71] The worldwide cost of dengue case is estimated US$9 billion.[71] For the decade of the 2000s, 12 countries in Southeast Asia were estimated to have about 3 million infections and 6,000 deaths annually.[72] In 2019 the Philippines declared a national dengue epidemic due to the deaths reaching 622 people that year.[73] It is reported in at least 22 countries in Africa; but is likely present in all of them with 20% of the population at risk.[74] This makes it one of the most common vector-borne diseases worldwide.[51]
Infections are most commonly acquired in the urban environment.[23] In recent decades, the expansion of villages, towns and cities in the areas in which it is common, and the increased mobility of people has increased the number of epidemics and circulating viruses. Dengue fever, which was once confined to Southeast Asia, has now spread to southern China in East Asia, countries in the Pacific Ocean and the Americas,[23] and might pose a threat to Europe.[22]
Rates of dengue increased 30 fold between 1960 and 2010.[75] This increase is believed to be due to a combination of urbanization, population growth, increased international travel, and global warming.[20] The geographical distribution is around the equator. Of the 2.5 billion people living in areas where it is common 70% are from the WHO Southeast Asia Region and Western Pacific Region.[75] An infection with dengue is second only to malaria as a diagnosed cause of fever among travelers returning from the developing world.[26] It is the most common viral disease transmitted by arthropods,[30] and has a disease burden estimated at 1,600 disability-adjusted life years per million population.[33] The World Health Organization counts dengue as one of seventeen neglected tropical diseases.[76]
Like most arboviruses, dengue virus is maintained in nature in cycles that involve preferred blood-sucking vectors and vertebrate hosts.[23] The viruses are maintained in the forests of Southeast Asia and Africa by transmission from female Aedes mosquitos—of species other than A. aegypti—to their offspring and to lower primates.[23] In towns and cities, the virus is primarily transmitted by the highly domesticated A. aegypti. In rural settings the virus is transmitted to humans by A. aegypti and other species of Aedes such as A. albopictus.[23] Both these species had expanding ranges in the second half of the 20th century.[25] In all settings the infected lower primates or humans greatly increase the number of circulating dengue viruses, in a process called amplification.[23] One projection estimates that climate change, urbanization, and other factors could result in more than 6 billion people at risk of dengue infection by 2080.[77]
## History[edit]
The first record of a case of probable dengue fever is in a Chinese medical encyclopedia from the Jin Dynasty (265–420 AD) which referred to a "water poison" associated with flying insects.[14][78] The primary vector, A. aegypti, spread out of Africa in the 15th to 19th centuries due in part to increased globalization secondary to the slave trade.[25] There have been descriptions of epidemics in the 17th century, but the most plausible early reports of dengue epidemics are from 1779 and 1780, when an epidemic swept across Southeast Asia, Africa and North America.[14][79] From that time until 1940, epidemics were infrequent.[14]
In 1906, transmission by the Aedes mosquitos was confirmed, and in 1907 dengue was the second disease (after yellow fever) that was shown to be caused by a virus.[16] Further investigations by John Burton Cleland and Joseph Franklin Siler completed the basic understanding of dengue transmission.[16]
The marked spread of dengue during and after the Second World War has been attributed to ecologic disruption. The same trends also led to the spread of different serotypes of the disease to new areas and the emergence of dengue hemorrhagic fever. This severe form of the disease was first reported in the Philippines in 1953; by the 1970s, it had become a major cause of child mortality and had emerged in the Pacific and the Americas.[14] Dengue hemorrhagic fever and dengue shock syndrome were first noted in Central and South America in 1981, as DENV-2 was contracted by people who had previously been infected with DENV-1 several years earlier.[29]
### Etymology[edit]
The origins of the Spanish word dengue are not certain, but it is possibly derived from dinga in the Swahili phrase Ka-dinga pepo, which describes the disease as being caused by an evil spirit.[78] Slaves in the West Indies having contracted dengue were said to have the posture and gait of a dandy, and the disease was known as "dandy fever".[80][81]
The term break-bone fever was applied by physician and United States Founding Father Benjamin Rush, in a 1789 report of the 1780 epidemic in Philadelphia. In the report title he uses the more formal term "bilious remitting fever".[82] The term dengue fever came into general use only after 1828.[81] Other historical terms include "breakheart fever" and "la dengue".[81] Terms for severe disease include "infectious thrombocytopenic purpura" and "Philippine", "Thai", or "Singapore hemorrhagic fever".[81]
## Society and culture[edit]
### Blood donation[edit]
Outbreaks of dengue fever increase the need for blood products while decreasing the number of potential blood donors due to potential infection with the virus.[83] Someone who has a dengue infection is typically not allowed to donate blood for at least the next six months.[83]
### Awareness efforts[edit]
A National Dengue Day is held in India on 16 May in an effort to raise awareness in affected countries.[84] Efforts are ongoing as of 2019 to make it a global event.[85] The Philippines has an awareness month in June since 1998.[86][87]
## Research[edit]
This article needs to be updated. Please update this article to reflect recent events or newly available information. (March 2020)
Research efforts to prevent and treat dengue include various means of vector control,[needs update][88] vaccine development, and antiviral drugs.[56][needs update]
A vaccine candidate, TAK-003, has shown 73% efficacy in a clinical trial of more than 20,000 children in endemic regions and 90% efficacy for hospitalized patients.[89]
### Vector[edit]
Public health officers releasing P. reticulata fry into an artificial lake in the Lago Norte district of Brasília, Brazil, as part of a vector control effort
With regards to vector control, a number of novel methods have been used to reduce mosquito numbers with some success including the placement of the guppy (Poecilia reticulata) or copepods in standing water to eat the mosquito larvae.[88] There are also trials with genetically modified male A. aegypti that after release into the wild mate with females, and render their offspring unable to fly.[90]
### Wolbachia[edit]
Attempts are ongoing to infect the mosquito population with bacteria of the genus Wolbachia, which makes the mosquitos partially resistant to dengue virus.[25][91] While artificially induced infection with Wolbachia is effective, it is unclear if naturally acquired infections are protective.[92] Work is still ongoing as of 2015[update] to determine the best type of Wolbachia to use.[93]
### Treatment[edit]
Apart from attempts to control the spread of the Aedes mosquito there are ongoing efforts to develop antiviral drugs that would be used to treat attacks of dengue fever and prevent severe complications.[17][94] Discovery of the structure of the viral proteins may aid the development of effective drugs.[17] There are several plausible targets. The first approach is inhibition of the viral RNA-dependent RNA polymerase (coded by NS5), which copies the viral genetic material, with nucleoside analogs. Secondly, it may be possible to develop specific inhibitors of the viral protease (coded by NS3), which splices viral proteins.[95] Finally, it may be possible to develop entry inhibitors, which stop the virus entering cells, or inhibitors of the 5′ capping process, which is required for viral replication.[94]
Carica papaya leaf extract has been studied[96] and has been used for treatment[97] and in hospitals.[98] As of 2020, studies have shown positive benefits on clinical blood parameters, but a beneficial effect on disease outcome has yet to be studied,[99] and papaya leaf extract is not considered a standard of practice therapy.[96][98][100]
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## External links[edit]
Dengue feverat Wikipedia's sister projects
* Definitions from Wiktionary
* Media from Wikimedia Commons
* News from Wikinews
* Quotations from Wikiquote
* Texts from Wikisource
* Textbooks from Wikibooks
* Travel guide from Wikivoyage
* Resources from Wikiversity
* Dengue fever at Curlie
* Medicine portal
* Viruses portal
Classification
D
* ICD-10: A97
* ICD-9-CM: 061
* OMIM: 614371
* MeSH: D003715
* DiseasesDB: 3564
External resources
* MedlinePlus: 001374
* eMedicine: med/528
* Patient UK: Dengue fever
This article was submitted to Open Medicine for external academic peer review in 2012 (reviewer reports). The updated content was reintegrated into the Wikipedia page under a CC-BY-SA-3.0 license (2014). The version of record as reviewed is: James Heilman; Jacob de Wolff; Graham Beards; et al. (2 October 2014). "Dengue fever: a Wikipedia clinical review". Open Medicine. 8 (4): e105-15. ISSN 1911-2092. PMC 4242787. PMID 25426178. Wikidata Q28651505.
* v
* t
* e
Zoonotic viral diseases (A80–B34, 042–079)
Arthropod
-borne
Mosquito
-borne
Bunyavirales
* Arbovirus encephalitides: La Crosse encephalitis
* LACV
* Batai virus
* BATV
* Bwamba Fever
* BWAV
* California encephalitis
* CEV
* Jamestown Canyon encephalitis
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* JEV
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* Tanapox
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Multiple
vectors
Rhabdoviridae
* Rabies
* RABV
* Mokola virus
Poxviridae
* Monkeypox
Authority control
* BNF: cb11946040c (data)
* GND: 4149075-7
* LCCN: sh85036728
* NDL: 00561310
* NSK: 006463860
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Dengue fever
|
c0011311
| 28,015 |
wikipedia
|
https://en.wikipedia.org/wiki/Dengue_fever
| 2021-01-18T18:45:45 |
{"gard": ["6254"], "mesh": ["D003715"], "umls": ["C0011311"], "orphanet": ["99828"], "wikidata": ["Q30953"]}
|
"PDNOS" redirects here. It is not to be confused with PDD-NOS.
Personality disorder, unspecified
Other namesPersonality disorder NOS (PDNOS)
SpecialtyPsychiatry
Personality disorders
Cluster A (odd)
* Paranoid
* Schizoid
* Schizotypal
Cluster B (dramatic)
* Antisocial
* Borderline
* Histrionic
* Narcissistic
Cluster C (anxious)
* Avoidant
* Dependent
* Obsessive–compulsive
Not specified
* Depressive
* Haltlose
* Immature
* Passive–aggressive
* Cyclothymic
* Psychopathy
* v
* t
* e
Personality disorder not otherwise specified is a diagnostic classification for some DSM-IV Axis II personality disorders not otherwise listed in DSM-IV.[1]
The DSM-5 does not have an equivalent to Personality Disorder NOS. However Personality disorder-trait specified (PD-TS) remains under consideration for future revisions. The DSM 5 "Unspecified Disorder" is not a personality disorder, it is used to enhance specificity of an existing disorder [2] or it is an emergency diagnosis unto itself (i.e. Unspecified Mental Disorder, 300.9), without being attached to another disorder.[3]
## Contents
* 1 Diagnostic criteria
* 1.1 DSM-IV-TR
* 1.2 ICD-10
* 2 Epidemiology
* 3 See also
* 4 References
* 5 External links
## Diagnostic criteria[edit]
This section needs to be updated. Please update this article to reflect recent events or newly available information. (December 2020)
### DSM-IV-TR[edit]
This diagnosis may be given when no other personality disorder defined in the DSM fits the patient's symptoms.[4]
Four personality disorders were excluded from the main body of the DSM-IV-TR but this diagnosis may be used instead. The four excluded personality disorders are:
* Sadistic personality disorder
* Self-defeating personality disorder
* Depressive personality disorder
* Passive–aggressive personality disorder
It is a requirement of DSM-IV that a diagnosis of any personality disorder also satisfies a set of Diagnostic criteria.
### ICD-10[edit]
The World Health Organization's ICD-10 defines a conceptually similar disorder to "personality disorder not otherwise specified" called (F60.9) Personality disorder, unspecified.
It is a requirement of ICD-10 that a diagnosis of any personality disorder also satisfies a set of Diagnostic criteria.
## Epidemiology[edit]
This section needs expansion. You can help by adding to it. (November 2009)
In one study, PDNOS was found to be the third most frequent personality disorder diagnosis.[5]
## See also[edit]
* DSM-IV codes (personality disorders)
* ICD-10 codes (personality disorders)
* Eating disorder not otherwise specified
* Mood disorder not otherwise specified
* Pervasive developmental disorder not otherwise specified
## References[edit]
1. ^ Verheul R, Bartak A, Widiger T (August 2007). "Prevalence and construct validity of Personality Disorder Not Otherwise Specified (PDNOS)". J. Pers. Disord. 21 (4): 359–70. doi:10.1521/pedi.2007.21.4.359. PMID 17685833.[permanent dead link]
2. ^ American Psychiatric Association (2013). Diagnostic and Statistical manual of Mental Disorders (5th ed.). Washington DC: name. pp. 15. ISBN 978-0-89042-555-8.
3. ^ American Psychiatric Association (2013). Diagnostic and Statistical Manual of Mental Disorders (5th ed.). Washington DC: name. pp. 708. ISBN 978-0-89042-555-8.
4. ^ Diagnostic and Statistical Manual of Mental Disorders Fourth edition Text Revision (DSM-IV-TR) American Psychiatric Association (2000)
5. ^ Wilberg T, Hummelen B, Pedersen G, Karterud S (2008). "A study of patients with personality disorder not otherwise specified". Compr Psychiatry. 49 (5): 460–8. doi:10.1016/j.comppsych.2007.12.008. PMID 18702931.
## External links[edit]
Classification
D
* ICD-10: F60.9
* ICD-9-CM: 301.9
* v
* t
* e
DSM personality disorders
DSM-III-R only
* Sadistic
* Self-defeating (masochistic)
DSM-IV only
Personality disorder not otherwise specified
Appendix B (proposed)
* Depressive
* Negativistic (passive–aggressive)
DSM-5
(Categorical
model)
Cluster A (odd)
* Paranoid
* Schizoid
* Schizotypal
Cluster B (dramatic)
* Antisocial
* Borderline
* Histrionic
* Narcissistic
Cluster C (anxious)
* Avoidant
* Dependent
* Obsessive-compulsive
DSM-5
Alternative hybrid categorical and dimensional model in Section III included to stimulate further research
* v
* t
* e
Personality disorders
Schizotypal
* Schizotypal
Specific
* Anankastic
* Anxious (avoidant)
* Dependent
* Dissocial
* Emotionally unstable
* Histrionic
* Paranoid
* Schizoid
*
Other
* Eccentric
* Haltlose
* Immature
* Narcissistic
* Passive–aggressive
* Psychoneurotic
Organic
* Organic
Unspecified
* Unspecified
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Personality disorder not otherwise specified
|
None
| 28,016 |
wikipedia
|
https://en.wikipedia.org/wiki/Personality_disorder_not_otherwise_specified
| 2021-01-18T19:04:23 |
{"icd-9": ["301.9"], "icd-10": ["F60.9"], "wikidata": ["Q2540067"]}
|
A number sign (#) is used with this entry because of evidence that this form of progressive renal disease, referred to here as focal segmental glomerulosclerosis-1 (FSGS1), is caused by heterozygous mutation in the gene encoding alpha-actinin-4 (ACTN4; 604638) on chromosome 19q13.
Description
Focal segmental glomerulosclerosis (FSGS) is a pathologic finding in several renal disorders that manifest clinically as proteinuria and progressive decline in renal function. Some patients with FSGS develop the clinical entity called 'nephrotic syndrome' (see NPHS1; 256300), which includes massive proteinuria, hypoalbuminemia, hyperlipidemia, and edema. However, patients with FSGS may have proteinuria in the nephrotic range without other features of the nephrotic syndrome (summary by D'Agati et al., 2004; Mathis et al., 1998).
D'Agati et al. (2011) provided a detailed review of FSGS, emphasizing that the disorder results from defects of the podocyte.
Because of confusion in the literature regarding use of the terms 'nephrotic syndrome' and 'focal segmental glomerulosclerosis' (see NOMENCLATURE section), these disorders in OMIM are classified as NPHS or FSGS according to how they were first designated in the literature.
### Genetic Heterogeneity of Focal Segmental Glomerulosclerosis and Nephrotic Syndrome
Focal segmental glomerulosclerosis and nephrotic syndrome are genetically heterogeneous disorders representing a spectrum of hereditary renal diseases. See also FSGS2 (603965), caused by mutation in the TRPC6 gene (603652); FSGS3 (607832), associated with variation in the CD2AP gene (604241); FSGS4 (612551), mapped to chromosome 22q12; FSGS5 (613237), caused by mutation in the INF2 gene (610982); FSGS6 (614131), caused by mutation in the MYO1E gene (601479); FSGS7 (616002), caused by mutation in the PAX2 gene (167409); FSGS8 (616032), caused by mutation in the ANLN gene (616027); and FSGS9 (616220), caused by mutation in the CRB2 gene (609720).
See also NPHS1 (256300), caused by mutation in the NPHS1 gene (602716); NPHS2 (600995), caused by mutation in the podocin gene (604766); NPHS3 (610725), caused by mutation in the PLCE1 gene (608414); and NPHS4 (256370), caused by mutation in the WT1 gene (607102).
Clinical Features
Mathis et al. (1992) reported a large family with variable expression of a glomerular disease associated with asymptomatic proteinuria and normal renal function (7 patients) or significant proteinuria leading to progressive renal failure (11 patients). Histopathologic changes were variable, but included focal segmental glomerulosclerosis and diffuse glomerulosclerosis. Renal failure usually occurred in the fifth decade of life. The most consistent clinical finding was proteinuria without microscopic hematuria or other significant urinary sediment elements. This disease differed from Alport syndrome (301050) and congenital nephrotic syndrome (256300) in age of onset, urinary findings, and lack of associated conditions, such as deafness.
Mathis et al. (1998) provided follow-up of the family reported by Mathis et al. (1992). An individual was considered affected if he/she had (1) renal biopsy evidence of FSGS; (2) end-stage renal disease without another cause; or (3) elevated urine microalbumin excretion without another cause. The authors noted that emphasized the great variability in the phenotypic expression of the disease gene. They further stated that 'although we have termed the pathologic condition in this family inherited FSGS, this may be misleading,' since some family members developed end-stage renal failure at a relatively young age, whereas others showed only microalbuminuria, including 1 individual whose 2 daughters were severely affected.
Bartram et al. (2016) reported a 13-year-old German girl who presented with arterial hypertension, ocular pain, and nausea. She had pleural effusions and moderate ascites associated with end-stage renal failure; laboratory studies showed renal anemia and proteinuria. Her kidneys were small and hyperechoic with reduced corticomedullary differentiation on ultrasound. She underwent renal transplantation from her father.
Inheritance
The genetic contribution to FSGS etiology is indicated by reports of its occurrence in multiple members of families (Conlon et al., 1995; Faubert and Porush, 1997). Both autosomal dominant and recessive patterns of inheritance have been proposed (Conlon et al., 1995).
The inheritance pattern in the family reported by Mathis et al. (1998) was autosomal dominant with reduced penetrance and variable expressivity.
Pathogenesis
D'Agati et al. (2004) proposed a pathologic classification of FSGS, defining 5 morphologic variants based entirely on assessment of glomerular light microscopic alterations: collapsing variant, tip variant, cellular variant, perihilar variant, and 'not otherwise specified,' with classification into a given category requiring that all preceding categories, as listed, be excluded.
D'Agati et al. (2011) reviewed the pathogenesis of FSGS, with emphasis on loss of the glomerular filtration barrier due to defects in the podocyte.
Mapping
In a large kindred with affected members in at least 5 generations, Mathis et al. (1998) performed linkage analysis and demonstrated mapping to chromosome 19q13; maximum 2-point lod score = 12.28. They narrowed the critical region to approximately 7 cM.
Molecular Genetics
In 3 families with clear evidence of autosomal dominant inheritance of FSGS, including the family reported by Mathis et al. (1992, 1998), Kaplan et al. (2000) identified heterozygous mutations in the ACTN4 gene (604638.0001-604638.0003). They also analyzed the NPHS1 gene (602716) and found no mutations associated with this disorder.
In a 13-year-old German girl with FSGS1, Bartram et al. (2016) identified a de novo heterozygous missense mutation in the ACTN4 gene (G195D; 604638.0004). The mutation was found by gene panel analysis and confirmed by Sanger sequencing. Introduction of the mutation into podocytes showed that the mutant protein had altered localization compared to wildtype and formed multiple F-actin-positive aggregates. Renal epithelial cells derived from the patient and transfected HEK293 cells showed reduced expression of the ACTN4 protein, resulting from increased ubiquitination and subsequent clearance of the mutant protein. Proteomic analysis of patient cells showed disturbances in the ACTN4 interactome with dysregulation of LIM domain proteins, which are important modular regulators of cell adhesion.
### Associations Pending Confirmation
See 300319.0001 for discussion of a possible association of FSGS with mutation in the NXF5 gene.
See 300776.0003 for discussion of a possible association of FSGS with mutation in the ALG13 gene.
See 610586.0001 for discussion of a possible association of FSGS with mutation in the ARHGAP24 gene.
Nomenclature
In the literature, use of the clinical term 'nephrotic syndrome' (NPHS) and the pathologic term 'focal segmental glomerulosclerosis' (FSGS) to refer to the same disease entity has generated confusion in the naming and classification of similar disorders. In OMIM, these disorders are classified as NPHS or FSGS according to how they were first designated in the literature. It is important to recognize that FSGS is a histologic pattern of renal injury: some patients with FSGS on biopsy have nephrotic syndrome, whereas others have only mild proteinuria. NPHS and FSGS represent a spectrum of hereditary renal diseases of the podocyte (see reviews by Pollak, 2002; Meyrier, 2005; Caridi et al., 2010; Hildebrandt, 2010).
INHERITANCE \- Autosomal dominant CARDIOVASCULAR Vascular \- Hypertension GENITOURINARY Kidneys \- End-stage renal disease (in some patients) \- Focal segmental glomerulosclerosis \- Small hyperechoic kidneys HEMATOLOGY \- Anemia LABORATORY ABNORMALITIES \- Proteinuria MISCELLANEOUS \- Onset in first or second decade \- Slowly progressive \- Variable severity \- Incomplete penetrance MOLECULAR BASIS \- Caused by mutation in the alpha-4 actinin gene (ACTN4, 604638.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1
|
c1868672
| 28,017 |
omim
|
https://www.omim.org/entry/603278
| 2019-09-22T16:13:08 |
{"doid": ["0111128"], "mesh": ["C536404"], "omim": ["603278"], "orphanet": ["656", "93213"], "synonyms": ["Alternative titles", "GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1"]}
|
Jamil et al. (1975) concluded that the isozymes of guanylate kinase, GUK1 (139270), GUK2 (139280), and GUK3, are determined by 3 separate gene loci. Electrophoretically detectable red cell GUK3 variation was found in the orangutan by Jamil and Fisher (1977). They and Meera Khan (1980) concluded that the variation was on the basis of a pair of alleles at an autosomal locus. The chromosomal site of GUK3 in man is unknown.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
GUANYLATE KINASE 3
|
c1841763
| 28,018 |
omim
|
https://www.omim.org/entry/139290
| 2019-09-22T16:40:36 |
{"omim": ["139290"]}
|
Smith–Lemli–Opitz syndrome
Other namesSLOS, or 7-dehydrocholesterol reductase deficiency
7-Dehydrocholesterol is a toxic steroidal metabolite that accumulates in the bodies of those with SLOS
SpecialtyMedical genetics
Smith–Lemli–Opitz syndrome is an inborn error of cholesterol synthesis.[1] It is an autosomal recessive, multiple malformation syndrome caused by a mutation in the enzyme 7-Dehydrocholesterol reductase encoded by the DHCR7 gene. It causes a broad spectrum of effects, ranging from mild intellectual disability and behavioural problems to lethal malformations.[2]
## Contents
* 1 Signs and symptoms
* 1.1 Physical characteristics
* 1.2 Behavioural characteristics
* 1.3 Biochemical phenotype
* 2 Genetics
* 2.1 DHCR7
* 2.2 Mutations and incidence
* 3 Cholesterol metabolism and function
* 3.1 Metabolism
* 3.2 Regulation
* 3.3 Function
* 4 Pathogenesis
* 5 Screening and diagnosis
* 5.1 Prenatally
* 5.2 Postnatally
* 6 Treatment
* 6.1 Cholesterol supplementation
* 6.2 Simvastatin therapy
* 6.3 Antioxidant supplementation
* 6.4 Further considerations
* 7 Research
* 7.1 Teratogenic models
* 7.2 Genetic models
* 7.3 Discoveries
* 8 Eponym
* 9 References
* 10 External links
## Signs and symptoms[edit]
SLOS can present itself differently in different cases, depending on the severity of the mutation and other factors. Originally, SLOS patients were classified into two categories (classic and severe) based on physical and mental characteristics, alongside other clinical features. Since the discovery of the specific biochemical defect responsible for SLOS, patients are given a severity score based on their levels of cerebral, ocular, oral, and genital defects. It is then used to classify patients as having mild, classical, or severe SLOS.[3]
### Physical characteristics[edit]
The most common facial features of SLOS include microcephaly, bitemporal narrowing (reduced distance between temples), ptosis, a short and upturned nose, micrognathia, epicanthal folds, and capillary hemangioma of the nose.[3] Other physical characteristics include:
Syndactyly of the second and third toes
* low-set and posteriorly rotated ears
* high-arched, narrow, hard palate
* cleft lip/palate
* agenesis or hypoplasia of the corpus callosum
* cerebellar hypoplasia
* increased ventricular size
* decreased frontal lobe size
* polydactyly of hands or feet
* short, proximally placed thumb
* other finger malformations
* syndactyly of second and third toes
* ambiguous or female-like male genitalia
* congenital heart defects
* renal, pulmonary, liver and eye abnormalities
### Behavioural characteristics[edit]
Certain behaviours and attributes are commonly seen among patients suffering from SLOS. They may have low normal intelligence, and react negatively or with hypersensitivity to different sensory stimuli. This is particularly true for certain auditory and visual stimuli. Many patients show aggressiveness and self-injurious behaviours, and sleep disturbances are common.[3] Specific behaviours resembling those of people with autism are often present as well as hyperactivity, which provides genetic and biological insights into autism spectrum disorders. The autistic behaviours most characteristic of SLOS patients are opisthokinesis (an upper body movement), stretching of the upper body, and hand flicking.[4] Autism is typically diagnosed separately from SLOS using the DSM-V, and approximately 50–75% of SLOS patients meet the criteria for autism.[5]
Other behaviours associated with SLOS can be linked directly to physical abnormalities. For example, infants often show feeding problems or feeding intolerance, and patients may require increased caloric intake due to accelerated metabolism. Recurrent infections, including ear infections and pneumonia, are also common.[3]
### Biochemical phenotype[edit]
Given that SLOS is caused by a mutation in an enzyme involved in cholesterol synthesis, the resulting biochemical characteristics may be predictable. Most patients have lowered plasma cholesterol levels (hypocholesterolemia). However, approximately 10% may show normal cholesterol levels,[3] and decreased concentrations of cholesterol are not solely indicative of SLOS. Increased levels of cholesterol precursors are also common in SLOS. In particular, elevated levels of 7-dehydrocholesterol are fairly specific to SLOS.[2]
## Genetics[edit]
### DHCR7[edit]
The gene encoding DHCR7 (labeled as DHCR7) was cloned in 1998, and has been mapped to chromosome 11q12-13.[1] It is 14100 base pairs of DNA in length, and contains nine exons,[2] the corresponding mRNA is 2786 base pairs in length (the remaining DNA sequence is intronic). The structure of the DHCR7 rat gene is very similar to the structure of the human gene.[1]
The highest levels of DHCR7 expression have been detected in the adrenal gland, the testis, the liver and in brain tissue.[1] Its expression is induced by decreased sterol concentrations via sterol regulatory binding proteins (SREBP). There is also evidence that its activity may be regulated by tissue specific transcription, and alternative splicing.
As outlined above, the enzyme DHCR7 catalyzes the reduction of 7DHC to cholesterol, as well as the reduction of 7-dehydrodesmosterol to desmosterol. It requires NADPH as a cofactor for this reduction, and may involve the activity of cytochrome-P450 oxidoreductase. It is also thought to contain iron.[1] DHCR7 is an integral membrane protein of the endoplasmic reticulum, and computer models have predicted up to nine transmembrane domains.[2] DHCR7 is most efficient at reducing 7DHC, but it is known to reduce the carbon 7 double bond of other sterols, indicating a range of substrate specificity. The human version of this enzyme is predicted to have a molecular weight of 54,489 kDa, and an isoelectric point of 9.05.[1]
The amino acid sequence that encodes DHCR7 is predicted to contain 475 amino acids, as well as several protein motifs. It contains multiple sterol reductase motifs, as would be expected given its function. It contains a potential sterol-sensing domain (SSD), whose function is unknown but thought to be necessary for binding sterol substrates. It also includes multiple sites of phosphorylation, including potential protein kinase C and tyrosine kinase sites (regulatory enzymes responsible for phosphorylation). The exact function of phosphorylating DHCR7 is yet unknown, but it is thought to be involved in the regulation of its activity.[1]
### Mutations and incidence[edit]
Missense mutations account for 87.6% of the SLOS spectrum
SLOS is an autosomal recessive disorder.[6] More than 130 different types of mutations have been identified.[2] Missense mutations (single nucleotide change resulting in a code for a different amino acid) are the most common, accounting for 87.6% of the SLOS spectrum. These typically reduce the function of the enzyme but may not inhibit it completely. Much depends on the nature of the mutation (i.e. which amino acid is replaced and where). Null mutations are much less common, these mutations produce either a completely dysfunctional enzyme, or no enzyme at all.[6] Thus, missense mutations may be more common overall because they are less lethal than nonsense mutations; nonsense mutations may simply result in spontaneous abortion.
The IVS8-1G>C is the most frequently reported mutation in DHCR7. This disrupts the joining of exons eight and nine, and results in the insertion of 134 nucleotides into the DHCR7 transcript. This is a nonsense mutation, thus patients that are homozygous for this allele are severely affected. It is thought that this mutation first occurred in the British Isles, and it has a carrier (those that are heterozygous for the allele but not affected) frequency of 1.09% for Caucasians of European heritage. The frequency of mutations differs for various ethnicities, depending on the origin of the mutation. In all Caucasian populations, this particular mutation has an estimated carrier frequency of 3%.[1]
The next most common mutation is 278C>T, and results in a threonine at the amino acid position 93. It is a missense mutation and tends to be associated with less severe symptoms. This mutation is the most common one seen in patients of Italian, Cuban, and Mediterranean descent.[1]
The third most common mutation is 452G>A. This nonsense mutation causes protein termination, such that the enzyme DHCR7 would not be formed. It is thought to have arisen in Southern Poland and is most common in Northern Europe.[1]
Other mutations are less common, although appear to target certain protein domains more so than others. For example, the sterol reductase motifs are common sites of mutation.[1] Overall, there is an estimated carrier frequency (for any DHCR7 mutation causing SLOS) of 3-4% in Caucasian populations (it is less frequent among Asian and African populations[7]). This number indicates a hypothetical birth incidence between 1/2500 and 1/4500. However, the measured incidence is between 1/10,000 to 1/60,000 (it differs depending on heritage and descent).[6] This is much lower than expected. This indicates that many cases of SLOS are undetected, and is likely due to either spontaneous abortion caused by severe mutations (miscarriage), or mild cases that are undiagnosed. Females lack the characteristic genital malformations that affected males have, and thus are less likely to be correctly diagnosed.[7]
## Cholesterol metabolism and function[edit]
### Metabolism[edit]
Cholesterol can be obtained through the diet, but it can also be formed by metabolism in the body. Cholesterol metabolism primarily takes place in the liver, with significant amounts in the intestine as well.[8] It should also be noted that cholesterol cannot pass the blood–brain barrier, thus within the brain, biosynthesis is the only source of cholesterol.[9]
Mevalonate pathway.
In humans, cholesterol synthesis begins with the mevalonate pathway (see diagram), leading to the synthesis of farnesyl pyrophosphate (FPP). This pathway uses two acetyl-CoA and two NADPH to make mevalonate, which is metabolized to isopentenyl pyrophosphate (IPP) using three ATP. From there, three IPP are needed to make one FPP. The combination of two FPP leads to the formation of squalene; this represents the first committed step towards cholesterol biosynthesis.[10] Squalene leads to the creation of lanosterol, from which there are multiple pathways that lead to cholesterol biosynthesis. The rate limiting step of cholesterol synthesis is the conversion of 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) to mevalonate, this is an early step in the mevalonate pathway catalyzed by HMG-CoA reductase.
Reaction scheme of squalene giving lanosterol.
Multiple pathways leading to cholesterol from lanosterol, including the Kandutsch-Russel pathway. Highlighted in red is the double bond which is reduced by the enzyme DHCR7.
Through a complicated series of reactions, lanosterol leads to the formation of zymosterol. As shown in a diagram to the right, it is at this point that the pathway diverges. In humans, the main pathway leading to cholesterol is known as the Kandutsch–Russell pathway.[3] Zymosterol is metabolized to 5α-cholesta-7,24-dien-3β-ol, then to lathosterol, and then to 7-dehydrocholesterol, or 7-DHC. 7-DHC is the immediate precursor to cholesterol, and the enzyme DHCR7 is responsible for converting 7-DHC to cholesterol.[1] DHCR7 reduces the double bond on carbon 7 of 7-DHC, leading to the unesterified product.[9] Mutations in this enzyme are responsible for the wide range of defects present in SLOS. In another pathway leading to cholesterol synthesis, DHCR7 is required for the reduction of 7-Dehydrodesmosterol to desmosterol.
### Regulation[edit]
Regulation of cholesterol synthesis is complex and occurs primarily through the enzyme HMG-CoA reductase (catalyst of the rate-limiting step). It involves a feedback loop that is sensitive to cellular levels of cholesterol. The four main steps of regulation are:[8]
* The synthesis of the enzyme HMG-CoA reductase is controlled by sterol regulatory element binding protein (SREBP). This is a transcription factor that is inactive when cholesterol levels are high, and active when cholesterol levels are low. When cholesterol levels fall, SREBP is released from the nuclear membrane or endoplasmic reticulum, it then migrates to the nucleus and causes the transcription of the HMG-CoA reductase gene.
* The translation (creating the enzyme from the mRNA transcript) of HMG-CoA reductase is inhibited by derivatives of mevalonate and by dietary cholesterol.
* The degradation of HMG-CoA reductase is tightly controlled. The part of the enzyme that is bound to the endoplasmic reticulum senses signals, such as increased cholesterol levels, that lead to its degradation or proteolysis.
* When HMG-CoA reductase is phosphorylated, its activity decreases. This means cholesterol synthesis is reduced when cell energy (ATP) levels are low.
### Function[edit]
Cholesterol is an important lipid involved in metabolism, cell function, and structure. It is a structural component of the cell membrane,[1] such that it provides structure and regulates the fluidity of the phospholipid bilayer. Furthermore, cholesterol is a constituent in lipid rafts. These are congregations of proteins and lipids (including sphingolipids and cholesterol) that float within the cell membrane, and play a role in the regulation of membrane function. Lipid rafts are more ordered or rigid than the membrane bilayer surrounding them. Their involvement in regulation stems mostly from their association with proteins; upon binding substrates, some proteins have a higher affinity for attaching to lipid rafts. This brings them in close proximity with other proteins, allowing them to affect signaling pathways. Cholesterol specifically acts as a spacer and a glue for lipid rafts; absence of cholesterol leads to the dissociation of proteins.[11]
Given its prevalence in cell membranes, cholesterol is highly involved in certain transport processes. It may influence the function of ion channels and other membrane transporters. For example, cholesterol is necessary for the ligand binding activity of the serotonin receptor.[12] In addition, it appears to be very important in exocytosis. Cholesterol modulates the properties of the membrane (such as membrane curvature), and may regulate the fusion of vesicles with the cell membrane. It may also facilitate the recruitment of complexes necessary for exocytosis. Given that neurons rely heavily on exocytosis for the transmission of impulses, cholesterol is a very important part of the nervous system.[13]
Functions and derivatives of cholesterol.
One particularly relevant pathway in which cholesterol takes place is the Hedgehog signaling pathway. This pathway is very important during embryonic development, and involved in deciding the fate of cells (i.e., which tissue they need to migrate to). Hedgehog proteins are also involved in the transcription of genes that regulate cell proliferation and differentiation. Cholesterol is important to this pathway because it undergoes covalent bonding to Hedgehog proteins, resulting in their activation. Without cholesterol, the signaling activity is disrupted and cell differentiation may be impaired.[14]
Cholesterol is a precursor for many important molecules. These include bile acids (important in processing dietary fats), oxysterols, neurosteroids (involved in neurotransmission and excitation), glucocorticoids (involved in immune and inflammatory processes), mineralocorticoids (osmotic balance), and sex steroids (i.e. estrogen and testosterone; wide range of function but involved in genital development prenatally).[1] Finally, cholesterol is a major component of myelin, a protective layer around neurons. Myelination occurs most rapidly during prenatal development, meaning that the demand for cholesterol biosynthesis is very high.[9]
## Pathogenesis[edit]
Given that the function of cholesterol encompasses a very wide range, it is unlikely that the symptoms of SLOS are due to a single molecular mechanism. Some of the molecular effects are yet unknown, but could be extrapolated based on the role of cholesterol. In general, the negative effects are due to decreased levels of cholesterol and increased levels of cholesterol precursors-most notably, 7DHC. Although 7DHC is structurally similar to cholesterol, and could potentially act as a substitute, the effects of this are still being studied.[2]
Most patients with SLOS present decreased cholesterol levels, particularly in the brain (where cholesterol levels rely primarily on new synthesis). This also means that any sterol derivatives of cholesterol would also have reduced concentrations. For example, reduced levels of neurosteroids may be seen in SLOS. These are lipids which take part in signaling within the brain, and must be produced within the brain itself. They are responsible for interacting with nuclear steroid receptors, and bind to neurotransmitter-gated ion channels. Specifically, they modulate the effects of GABA and NMDA receptors, resulting in calming effects, improved memory, and more. Thus, given that some characteristics of SLOS are the opposite of these effects (hyperactivity, anxiety), a reduction in neurosteroids could influence both neurological development and behaviour.[15]
Pathogenesis of Smith-Lemli-Optiz syndrome.
Furthermore, as outlined above, cholesterol is an important aspect in Hedgehog signaling. With lower levels of cholesterol, hedgehog proteins would not undergo the necessary covalent modification and subsequent activation. This would result in impaired embryonic development, and may contribute to the observed physical birth defects in SLOS. One particular hedgehog signaling protein, sonic hedgehog (SHH), is important in the pattern of the central nervous system, facial features, and limbs.[2] Other hedghehog proteins may be involved in the development of the genital tract and the skeleon.[3]
The altered sterol levels in SLOS are particularly relevant to cell membranes, which are made primarily of lipids. SLOS patients may show cell membranes with abnormal properties or composition, and reduced cholesterol levels greatly affect the stability and proteins of lipid rafts.[2] Despite their structural similarity, 7DHC is unable so replace cholesterol in lipid rafts.[16] In addition, a lack of cholesterol contributes to the increased fluidity of the cell membrane, and may cause abnormal granule secretions.[2] All of these changes in the membrane likely contribute to changes in transport functions that are observed in SLOS. They may cause defects in IgE receptor-mediated mast cell degranulation and cytokine production, which are cells involved in allergic and immune responses.[2] The NMDA receptor is affected, as well as the binding capability of the hippocampal serotonin receptor.[12] Cell to cell interaction, which is very important in development, may be impaired.[3] Exocytosis in synaptic vesicles has been shown to be reduced, likely due to impaired vesicle fusion to the cell membrane, or poor vesicle recycling.[13] Finally, cholesterol is highly prevalent in myelin, therefore SLOS patients show reduced myelination of the cerebral hemispheres, peripheral nerves, and cranial nerves.[15]
In addition to lowered levels of cholesterol, many of the symptoms shown in SLOS stem from the toxic effects of 7DHC. 7DHC is known to impair intracellular cholesterol transport. It also increases the degradation of HMG-CoA reductase (the enzyme that catalyzes the rate-limiting step in cholesterol synthesis). 7DHC leads to novel oxysterol and steroid derivatives, and many of their functions or effects are yet unknown.[2] A very important finding with respect to 7DHC is that it is the most reactive lipid for lipid peroxidation, and results in systemic oxidative stress. Lipid peroxidation is known to destroy membranes of both cells and membrane-bound organelles. The derivative of 7DHC that is used to indicate oxidative stress is 3β,5α-dihydroxy-cholest-7-en-6-one (DHCEO); it is formed from a primary product of 7DHC peroxidation, 7-DHC-5α,6α-epoxide. DHCEO is toxic to cortical neuronal and glial cells, and accelerates their differentiation and arborization.[17] Through oxidative stress, 7DHC is thought to be responsible for the increased photosensitivity shown in SLOS patients. Normal UVA exposure may lead to oxidative stress in skin cells. Given that 7DHC is more readily oxidized, it enhances the effects of UVA, leading to increased membrane lipid oxidation and increased production of reactive oxygen species (ROS).[16]
Typically, more altered the levels of 7DHC and cholesterol lead to more severe symptoms of SLOS. The levels of these metabolites also correspond to the severity of the mutation (nonsense versus missense); some mutations of DHCR7 may still show residual cholesterol synthesis, and others may not. However, even individuals with the same mutations or genotype may still show variability in their symptoms. This may be due to maternal factors, such as the transfer of cholesterol to the fetus during pregnancy, as well as the amount of cholesterol present in the brain before the blood–brain barrier forms prenatally. The rate of accumulation and excretion of toxic metabolites may vary from person to person. Maternal apolipoprotein E has also been implicated in individual variability in SLOS, although the exact nature of this relationship is unknown.[6] There are likely more factors contributing to the wide spectrum of effects in SLOS which have not yet been discovered.
## Screening and diagnosis[edit]
### Prenatally[edit]
The most characteristic biochemical indicator of SLOS is an increased concentration of 7DHC (reduced cholesterol levels are also typical, but appear in other disorders as well). Thus, prenatally, SLOS is diagnosed upon finding an elevated 7DHC:total sterol ratio in fetal tissues, or increased levels of 7DHC in amniotic fluid. The 7DHC:total sterol ratio can be measured at 11–12 weeks of gestation by chorionic villus sampling, and elevated 7DHC in amniotic fluid can be measured by 13 weeks. Furthermore, if parental mutations are known, DNA testing of amniotic fluid or chorionic villus samples may be performed.[3]
Micrograph showing chorionic vili, the tissue that is collected with chorionic villus sampling and used to test for SLOS.
Amniocentesis (process of sampling amniotic fluid) and chorionic villus sampling cannot be performed until approximately 3 months into the pregnancy. Given that SLOS is a very severe syndrome, parents may want to choose to terminate their pregnancy if their fetus is affected. Amniocentesis and chorionic villus sampling leave very little time to make this decision (abortions become more difficult as the pregnancy advances), and can also pose severe risks to the mother and baby. Thus, there is a very large desire for noninvasive midgestation diagnostic tests.[18] Examining the concentrations of sterols in maternal urine is one potential way to identify SLOS prenatally. During pregnancy, the fetus is solely responsible for synthesizing the cholesterol needed to produce estriol. A fetus with SLOS cannot produce cholesterol, and may use 7DHC or 8DHC as precursors for estriol instead. This creates 7- or 8-dehydrosteroids (such as 7-dehydroestriol), which may show up in the maternal urine. These are novel metabolites due to the presence of a normally reduced double bond at carbon 7 (caused by the inactivity of DHCR7), and may be used as indicators of SLOS.[19] Other cholesterol derivatives which possess a double bond at the 7th or 8th position and are present in maternal urine may also be indicators of SLOS. 7- and 8-dehydropregnanetriols have been shown to be present in the urine of mothers with an affected fetus but not with an unaffected fetus, and thus are used in diagnosis. These pregnadienes originated in the fetus and traveled through the placenta before reaching the mother. Their excretion indicates that neither the placenta nor the maternal organs have necessary enzymes needed to reduce the double bond of these novel metabolites.[18]
### Postnatally[edit]
If SLOS goes undetected until after birth, diagnosis may be based on the characteristic physical features as well as finding increased plasma levels of 7DHC.
There are many different ways of detecting 7DHC levels in blood plasma, one way is using the Liebermann–Burchard (LB) reagent. This is a simple colorimetric assay developed with the intention of use for large scale screening. When treated with the LB reagent, SLOS samples turn pink immediately and gradually become blue; normal blood samples are initially colorless and develop a faint blue color. Although this method has limitations and is not used to give a definitive diagnosis, it has appeal in that it is a much faster method than using cell cultures.[20]
Another way of detecting 7DHC is through gas chromatography, a technique used to separate and analyze compounds. Selected ion monitoring gas chromatography/mass-spectrometry (SIM-GC/MS) is a very sensitive version of gas chromatography, and permits detection of even mild cases of SLOS.[21] Other methods include time-of-flight mass spectrometry, particle-beam LC/MS, electrospray tandem MS, and ultraviolet absorbance, all of which may be used on either blood samples, amniotic fluid, or chorionic villus. Measuring levels of bile acids in patients urine, or studying DCHR7 activity in tissue culture are also common postnatal diagnostic techniques.[20]
## Treatment[edit]
Management of individuals with SLOS is complex and often requires a team of specialists. Some of the congenital malformations (cleft palate) can be corrected with surgery.[7] Other treatments have yet to be proven successful in randomized studies, however anecdotally they appear to cause improvements.
### Cholesterol supplementation[edit]
Currently, the most common form of treatment for SLOS involves dietary cholesterol supplementation.[22] Anecdotal reports indicate that this has some benefits; it may result in increased growth, lower irritability, improved sociability, less self-injurious behaviour, less tactile defensiveness, fewer infections, more muscle tone, less photosensitivity and fewer autistic behaviours.[23] Cholesterol supplementation begins at a dose of 40–50 mg/kg/day, increasing as needed. It is administered either through consuming foods high in cholesterol (eggs, cream, liver), or as purified food grade cholesterol. Younger children and infants may require tube feeding.[3] However, dietary cholesterol does not reduce the levels of 7DHC, cannot cross the blood–brain barrier, and does not appear to improve developmental outcomes.[23] One empirical study found that cholesterol supplementation did not improve developmental delay, regardless of the age at which it began. This is likely because most developmental delays stem from malformations of the brain, which dietary cholesterol cannot ameliorate due to its inability to cross the blood–brain barrier.[24]
Simvastatin is an inhibitor of HMG-CoA reductase and has been used to treat SLOS.
### Simvastatin therapy[edit]
HMG-CoA reductase inhibitors have been examined as treatment for SLOS. Given that this catalyzes the rate-limiting step in cholesterol synthesis, inhibiting it would reduce the buildup of toxic metabolites such as 7DHC.[22] Simvastatin is a known inhibitor of HMG-CoA reductase, and most importantly is able to cross the blood–brain barrier. It has been reported to decrease the levels of 7DHC, as well as increase the levels of cholesterol.[23] The increased cholesterol levels are due to simvastatin's effect on the expression of different genes. Simvastatin increases the expression of DHCR7, likely leading to increased activity of DHCR7. It has also been shown to increase the expression of other genes involved in cholesterol synthesis and uptake. However, these benefits are dependent on the amount of residual cholesterol synthesis. Because some individuals possess less severe mutations and demonstrate some amount of DCHR7 activity, these people benefit the most from simvastatin therapy as they still have a partially functioning enzyme. For individuals that show no residual DCHR7 activity, such as those homozygous for null alleles or mutations, simvastatin therapy may actually be toxic.[22] This highlights the importance of identifying the specific genotype of the SLOS patient before administering treatment. It is still unknown if simvastatin will improve the behavioural or learning deficits in SLOS.[23]
### Antioxidant supplementation[edit]
Antioxidants are those which inhibit the oxidation of molecules or reduce metabolites that were previously oxidized. Given that some symptoms of SLOS are thought to result from the peroxidation of 7DHC and its derivatives, inhibiting this peroxidation would likely have beneficial effects. Antioxidants have been shown to increase the level of lipid transcripts in SLOS cells, these transcripts play a role in lipid (cholesterol) biosynthesis and are known to be down-regulated in SLOS. Furthermore, vitamin E specifically is known to decrease DHCEO levels, which is an indicator of oxidative stress in SLOS, as well as present beneficial changes in gene expression. Vitamin E appears to be the most powerful antioxidant for treating SLOS, and in mouse models has reduced the levels of oxysterols in the brain. However, antioxidants have only been studied in animal models of SLOS or isolated SLOS cells. Thus, their clinical significance and negative side effects are still unknown, and their use has yet to be studied in humans.[25]
### Further considerations[edit]
When treating SLOS, a recurring issue is whether or not the intellectual and behavioural deficits are due to fixed developmental problems (i.e. fixed brain malformations), or due to ongoing abnormal sterol levels that interrupt the normal function of the brain and other tissues.[22] If the latter is true, then treatments which change the sterol levels and ratios, particularly in the brain, will likely improve the developmental outcome of the patient. However, if the former is true, then treatment is likely to help only with symptoms and not with specific developmental deficits.
## Research[edit]
The most common animal used to study SLOS is the mouse. According to BioCyc, cholesterol biosynthesis in mice is very similar to that of humans. Most importantly, mice possess both DHCR7 (the enzyme responsible for SLOS), and HMG-CoA reductase (the rate limiting step of cholesterol synthesis.[26] Rats are similar to mice and have also been used. There are two popular ways in which animal models of SLOS are created. The first is using teratogens, the second is using genetic manipulations to create mutations in the DHCR7 gene.
### Teratogenic models[edit]
Teratogenic models are induced by feeding pregnant rats or mice inhibitors of DCHR7. Two common inhibitors are BM15766 (4-(2-[1-(4-chlorocinnamyl)piperazin-4-yl]ethyl)-benzoic acid) and AY9944 (trans-l,4-bis(2-chlorobenzylaminomethy1)cyclohexane dihydrochloride). These compounds have different chemical and physical properties, but induce similar effects. AY9944 has been shown to induce holoprosencephaly and sexual malformations similar to those seen in humans with SLOS.[27] It is also known to cause impairments in the serotonin receptor, another defect commonly seen in SLOS patients.[28] BM15766 has produced the lack of cholesterol and bile acid synthesis that is seen in SLOS patients with homozygous mutations. All teratogenic models can be effectively used to study SLOS; however, they present lower levels of 7-DHC and 8-DHC than are seen in humans. This can be explained by the fact that humans experience a permanent block in their DHCR7 activity, where mice and rats treated with inhibitors experience only transient blocks. Furthermore, different species of mice and rats are more resistant to teratogens, and may be less effective as models of SLOS.[27] Teratogenic models are most commonly used to study more long-term effects of SLOS, because they survive longer than genetic models. For example, one study examined the retinal degeneration of SLOS, which in rats does not occur until at least one month after birth.[28]
### Genetic models[edit]
Genetic models of SLOS are created by knocking out the DHCR7 gene. One study used homologous recombination to disrupt DCHR7 in mouse embryonic stem cells. Similar to what is found in humans, heterozygous mice (having only one mutated allele) were phentoypically normal, and were crossed to produce pups (young mice) homozygous for the mutated allele. Although these pups died within the first day of life due to their inability to feed, they showed characteristics similar to humans with SLOS. They had decreased levels of cholesterol, increased levels of 7- and 8DHC, showed less growth and smaller birth weights, had craniofacial malformations, and less movement. Many also had a cleft palate, and decreased neuronal responses to glutamate. Overall however, the pups had fewer dysmorphic features than human patients with SLOS; they did not present limb, renal, adrenal or central nervous system malformations. This is explained by the fact that in rodents, maternal cholesterol can cross the placenta, and actually appears to be essential for the development of the fetus. In humans, very little maternal cholesterol is transferred to the fetus. In sum, the genetic mouse model is helpful to explain the neuropathophysiology of SLOS.[29]
### Discoveries[edit]
Many discoveries in SLOS research have been made using animal models. They have been used to study different treatment techniques, including the effectiveness of simvastatin therapy.[23] Other studies have examined behavioural characteristics while attempting to explain their underlying pathogenesis.[30] A common finding is that mouse models of SLOS show abnormal serotonergic development, which may be at least partially responsible for the autistic behaviours seen in SLOS.[31] Mouse models have also been used to develop diagnostic techniques; multiple studies have examined biomarkers that result from the oxidation of 7DHC, such as DHCEO.[17][32] It is likely that as animal models are improved, they will lead to many more discoveries in SLOS research.
## Eponym[edit]
It is named after David Weyhe Smith (1926–1981), an American pediatrician; Luc Lemli (1935–), a Belgian physician; and John Marius Opitz (1935–), a German-American physician. These are the researchers who first described the symptoms of SLOS.[33]
## References[edit]
1. ^ a b c d e f g h i j k l m n Correa-Cerro, Lina S.; Porter, Forbes D. (2005). "3β-Hydroxysterol Δ7-reductase and the Smith–Lemli–Opitz syndrome". Molecular Genetics and Metabolism. 84 (2): 112–26. doi:10.1016/j.ymgme.2004.09.017. PMID 15670717.
2. ^ a b c d e f g h i j k Porter, Forbes D (2008). "Smith–Lemli–Opitz syndrome: Pathogenesis, diagnosis and management". European Journal of Human Genetics. 16 (5): 535–41. doi:10.1038/ejhg.2008.10. PMID 18285838.
3. ^ a b c d e f g h i j Nowaczyk, MJM; Waye, JS (2001). "The Smith-Lemli-Opitz syndrome: A novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology". Clinical Genetics. 59 (6): 375–86. doi:10.1034/j.1399-0004.2001.590601.x. PMID 11453964. S2CID 9146017.
4. ^ Ghaziuddin, Mohammad; Al-Owain, Mohammed (2013). "Autism Spectrum Disorders and Inborn Errors of Metabolism: An Update". Pediatric Neurology. 49 (4): 232–6. doi:10.1016/j.pediatrneurol.2013.05.013. PMID 23921282.
5. ^ Bukelis, I.; Porter, F. D.; Zimmerman, A. W.; Tierney, E. (2007). "Smith-Lemli-Opitz Syndrome and Autism Spectrum Disorder". American Journal of Psychiatry. 164 (11): 1655–61. doi:10.1176/appi.ajp.2007.07020315. PMID 17974928.
6. ^ a b c d Yu, H; Patel, SB (2005). "Recent insights into the Smith-Lemli-Opitz syndrome". Clinical Genetics. 68 (5): 383–91. doi:10.1111/j.1399-0004.2005.00515.x. PMC 1350989. PMID 16207203.
7. ^ a b c Nowaczyk, Malgorzata JM (June 20, 2013). "Smith-Lemli-Opitz Syndrome". In Pagon, Roberta A; Adam, Margaret P; Bird, Thomas D; Dolan, Cynthia R; Fong, Chin-To; Smith, Richard JH; Stephens, Karen (eds.). GeneReviews. National Library of Medicine. Retrieved December 5, 2013.
8. ^ a b Berg, Jeremy M; Tymoczko, John L; Stryer, Lubert (2002). "The Complex Regulation of Cholesterol Biosynthesis Takes Place at Several Levels". Biochemistry (5th ed.). New York: W H Freeman. Section 26.3. ISBN 978-0-7167-3051-4.
9. ^ a b c Patti, G.J.; Shriver, L.P.; Wassif, C.A.; Woo, H.K.; Uritboonthai, W.; Apon, J.; Manchester, M.; Porter, F.D.; Siuzdak, G. (2010). "Nanostructure-initiator mass spectrometry (NIMS) imaging of brain cholesterol metabolites in Smith-Lemli-Opitz syndrome". Neuroscience. 170 (3): 858–64. doi:10.1016/j.neuroscience.2010.07.038. PMC 2952448. PMID 20670678.
10. ^ Liscum, Laura (2008). "Cholesterol biosynthesis". In Vance, D. E.; Vance, J. E. (eds.). Biochemistry of Lipids, Lipoproteins and Membranes (5th ed.). Elsevier. pp. 399–422. ISBN 978-0-08-055988-9.
11. ^ Simons, Kai; Ehehalt, Robert (2002). "Cholesterol, lipid rafts, and disease". Journal of Clinical Investigation. 110 (5): 597–603. doi:10.1172/JCI16390. PMC 151114. PMID 12208858.
12. ^ a b Singh, Pushpendra; Paila, Yamuna Devi; Chattopadhyay, Amitabha (2007). "Differential effects of cholesterol and 7-dehydrocholesterol on the ligand binding activity of the hippocampal serotonin1A receptor: Implications in SLOS". Biochemical and Biophysical Research Communications. 358 (2): 495–9. doi:10.1016/j.bbrc.2007.04.135. PMID 17493586.
13. ^ a b Linetti, A.; Fratangeli, A.; Taverna, E.; Valnegri, P.; Francolini, M.; Cappello, V.; Matteoli, M.; Passafaro, M.; Rosa, P. (2010). "Cholesterol reduction impairs exocytosis of synaptic vesicles". Journal of Cell Science. 123 (4): 595–605. doi:10.1242/jcs.060681. PMID 20103534.
14. ^ Ingham, Philip W. (2008). "Hedgehog signalling". Current Biology. 18 (6): R238–41. doi:10.1016/j.cub.2008.01.050. PMID 18364223.
15. ^ a b Marcos, Josep; Guo, Li-Wei; Wilson, William K; Porter, Forbes D; Shackleton, Cedric (2004). "The implications of 7-dehydrosterol-7-reductase deficiency (Smith–Lemli–Opitz syndrome) to neurosteroid production". Steroids. 69 (1): 51–60. doi:10.1016/j.steroids.2003.09.013. PMID 14715377. S2CID 900728.
16. ^ a b Valencia, Antonio; Rajadurai, Anpuchchelvi; Carle, A. Bjorn; Kochevar, Irene E. (2006). "7-Dehydrocholesterol enhances ultraviolet A-induced oxidative stress in keratinocytes: Roles of NADPH oxidase, mitochondria, and lipid rafts". Free Radical Biology and Medicine. 41 (11): 1704–18. doi:10.1016/j.freeradbiomed.2006.09.006. PMC 1880892. PMID 17145559.
17. ^ a b Korade, Zeljka; Xu, Libin; Mirnics, Karoly; Porter, Ned A. (2012). "Lipid biomarkers of oxidative stress in a genetic mouse model of Smith-Lemli-Opitz syndrome". Journal of Inherited Metabolic Disease. 36 (1): 113–22. doi:10.1007/s10545-012-9504-z. PMC 3674764. PMID 22718275.
18. ^ a b Shackleton, C; Roitman, E; Kratz, LE; Kelley, RI (1999). "Midgestational maternal urine steroid markers of fetal Smith–Lemli–Opitz (SLO) syndrome (7-dehydrocholesterol 7-reductase deficiency)". Steroids. 64 (7): 446–52. doi:10.1016/S0039-128X(99)00026-4. PMID 10443900. S2CID 42834575.
19. ^ Matabosch, Xavier; Rahman, Mahbuba; Hughes, Beverly; Patel, Shailendra B.; Watson, Gordon; Shackleton, Cedric (2009). "Steroid production and excretion by the pregnant mouse, particularly in relation to pregnancies with fetuses deficient in Δ7-sterol reductase (Dhcr7), the enzyme associated with Smith–Lemli–Opitz syndrome". The Journal of Steroid Biochemistry and Molecular Biology. 116 (1–2): 61–70. doi:10.1016/j.jsbmb.2009.04.011. PMC 2929956. PMID 19406241.
20. ^ a b Xiong, Quanbo; Ruan, Benfang; Whitby, Frank G.; Tuohy, Richard P.; Belanger, Thomas L.; Kelley, Richard I.; Wilson, William K.; Schroepfer, George J. (2002). "A colorimetric assay for 7-dehydrocholesterol with potential application to screening for Smith–Lemli–Opitz syndrome". Chemistry and Physics of Lipids. 115 (1–2): 1–15. doi:10.1016/S0009-3084(01)00205-5. PMID 12047895.
21. ^ Kelley, Richard I. (1995). "Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts". Clinica Chimica Acta. 236 (1): 45–58. doi:10.1016/0009-8981(95)06038-4. PMID 7664465.
22. ^ a b c d Wassif, Christopher A.; Krakowiak, Patrycja A.; Wright, Brooke S.; Gewandter, Jennifer S.; Sterner, Allison L.; Javitt, Norman; Yergey, Alfred L.; Porter, Forbes D. (2005). "Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith–Lemli–Opitz syndrome fibroblasts". Molecular Genetics and Metabolism. 85 (2): 96–107. doi:10.1016/j.ymgme.2004.12.009. PMID 15896653.
23. ^ a b c d e Correa-Cerro, L. S.; Wassif, CA; Kratz, L; Miller, GF; Munasinghe, JP; Grinberg, A; Fliesler, SJ; Porter, FD (2006). "Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy". Human Molecular Genetics. 15 (6): 839–51. doi:10.1093/hmg/ddl003. PMID 16446309.
24. ^ Sikora, Darryn M; Ruggiero, Mark; Petit-Kekel, Kersti; Merkens, Louise S; Connor, William E; Steiner, Robert D (2004). "Cholesterol supplementation does not improve developmental progress in Smith-Lemli-Opitz syndrome". The Journal of Pediatrics. 144 (6): 783–91. doi:10.1016/j.jpeds.2004.02.036. PMID 15192627.
25. ^ Korade, Zeljka; Xu, Libin; Harrison, Fiona E.; Ahsen, Refayat; Hart, Sarah E.; Folkes, Oakleigh M.; Mirnics, Károly; Porter, Ned A. (2013). "Antioxidant Supplementation Ameliorates Molecular Deficits in Smith-Lemli-Opitz Syndrome". Biological Psychiatry. 75 (3): 215–22. doi:10.1016/j.biopsych.2013.06.013. PMC 3874268. PMID 23896203.
26. ^ Karp, P. D.; Ouzounis, CA; Moore-Kochlacs, C; Goldovsky, L; Kaipa, P; Ahrén, D; Tsoka, S; Darzentas, N; Kunin, V; López-Bigas, N (2005). "Expansion of the BioCyc collection of pathway/genome databases to 160 genomes". Nucleic Acids Research. 33 (19): 6083–9. doi:10.1093/nar/gki892. PMC 1266070. PMID 16246909.
27. ^ a b Wolf, Claude; Chevy, Francoise; Pham, Jacques; Kolf-Clauw, Martine; Citadelle, Daniele; Mulliez, Nicole; Roux, Charles (1996). "Changes in serum sterols of rats treated with 7-dehydrocholesterol-Δ7-reductase inhibitors: Comparison to levels in humans with Smith-Lemli-Opitz syndrome". Journal of Lipid Research. 37 (6): 1325–33. PMID 8808767.
28. ^ a b Xu, Libin; Sheflin, Lowell G.; Porter, Ned A.; Fliesler, Steven J. (2012). "7-Dehydrocholesterol-derived oxysterols and retinal degeneration in a rat model of Smith–Lemli–Opitz syndrome". Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids. 1821 (6): 877–83. doi:10.1016/j.bbalip.2012.03.001. PMC 3340457. PMID 22425966.
29. ^ Wassif, C. A.; Zhu, P; Kratz, L; Krakowiak, PA; Battaile, KP; Weight, FF; Grinberg, A; Steiner, RD; Nwokoro, NA; Kelley, RI; Stewart, RR; Porter, FD (2001). "Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith-Lemli-Opitz syndrome". Human Molecular Genetics. 10 (6): 555–64. doi:10.1093/hmg/10.6.555. PMID 11230174.
30. ^ Korade, Z.; Folkes, O.M.; Harrison, F.E. (2013). "Behavioral and serotonergic response changes in the Dhcr7-HET mouse model of Smith–Lemli–Opitz syndrome". Pharmacology Biochemistry and Behavior. 106: 101–8. doi:10.1016/j.pbb.2013.03.007. PMID 23541496. S2CID 38380298.
31. ^ Waage-Baudet, H; Lauder, J.M; Dehart, D.B; Kluckman, K; Hiller, S; Tint, G.S; Sulik, K.K (2003). "Abnormal serotonergic development in a mouse model for the Smith–Lemli–Opitz syndrome: Implications for autism". International Journal of Developmental Neuroscience. 21 (8): 451–9. doi:10.1016/j.ijdevneu.2003.09.002. PMID 14659996. S2CID 42098029.
32. ^ Xu, L.; Korade, Z.; Rosado, D. A.; Liu, W.; Lamberson, C. R.; Porter, N. A. (2011). "An oxysterol biomarker for 7-dehydrocholesterol oxidation in cell/mouse models for Smith-Lemli-Opitz syndrome". The Journal of Lipid Research. 52 (6): 1222–33. doi:10.1194/jlr.M014498. PMC 3090243. PMID 21402677.
33. ^ Smith, David W.; Lemli, Luc; Opitz, John M. (1964). "A newly recognized syndrome of multiple congenital anomalies". The Journal of Pediatrics. 64 (2): 210–7. doi:10.1016/S0022-3476(64)80264-X. PMID 14119520.
This article incorporates public domain material from the United States National Library of Medicine document: "Genetics Home Reference".
## External links[edit]
Classification
D
* ICD-10: Q87.1
* ICD-10-CM: E78.72
* ICD-9-CM: 759.89
* OMIM: 270400
* MeSH: D019082
* DiseasesDB: 12223
External resources
* eMedicine: ped/2117
* Patient UK: Smith–Lemli–Opitz syndrome
* Orphanet: 818
* GeneReview/UW/NIH on Smith–Lemli–Opitz syndrome
* v
* t
* e
Congenital abnormality syndromes
Craniofacial
* Acrocephalosyndactylia
* Apert syndrome
* Carpenter syndrome
* Pfeiffer syndrome
* Saethre–Chotzen syndrome
* Sakati–Nyhan–Tisdale syndrome
* Bonnet–Dechaume–Blanc syndrome
* Other
* Baller–Gerold syndrome
* Cyclopia
* Goldenhar syndrome
* Möbius syndrome
Short stature
* 1q21.1 deletion syndrome
* Aarskog–Scott syndrome
* Cockayne syndrome
* Cornelia de Lange syndrome
* Dubowitz syndrome
* Noonan syndrome
* Robinow syndrome
* Silver–Russell syndrome
* Seckel syndrome
* Smith–Lemli–Opitz syndrome
* Snyder–Robinson syndrome
* Turner syndrome
Limbs
* Adducted thumb syndrome
* Holt–Oram syndrome
* Klippel–Trénaunay–Weber syndrome
* Nail–patella syndrome
* Rubinstein–Taybi syndrome
* Gastrulation/mesoderm:
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Laurence–Moon–Bardet–Biedl
* Bardet–Biedl syndrome
* Laurence–Moon syndrome
Combined/other,
known locus
* 2 (Feingold syndrome)
* 3 (Zimmermann–Laband syndrome)
* 4/13 (Fraser syndrome)
* 8 (Branchio-oto-renal syndrome, CHARGE syndrome)
* 12 (Keutel syndrome, Timothy syndrome)
* 15 (Marfan syndrome)
* 19 (Donohue syndrome)
* Multiple
* Fryns syndrome
* v
* t
* e
Inborn errors of steroid metabolism
Mevalonate
pathway
* HMG-CoA lyase deficiency
* Hyper-IgD syndrome
* Mevalonate kinase deficiency
To cholesterol
* 7-Dehydrocholesterol path: Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
* CHILD syndrome
* Conradi-Hünermann syndrome
* Lathosterolosis
* Smith–Lemli–Opitz syndrome
* desmosterol path: Desmosterolosis
Steroids
Corticosteroid
(including CAH)
* aldosterone: Glucocorticoid remediable aldosteronism
* cortisol/cortisone: CAH 17α-hydroxylase
* CAH 11β-hydroxylase
* both: CAH 3β-dehydrogenase
* CAH 21-hydroxylase
* Apparent mineralocorticoid excess syndrome/11β-dehydrogenase
Sex steroid
To androgens
* 17α-Hydroxylase deficiency
* 17,20-Lyase deficiency
* Cytochrome b5 deficiency
* 3β-Hydroxysteroid dehydrogenase deficiency
* 17β-Hydroxysteroid dehydrogenase deficiency
* 5α-Reductase deficiency
* Pseudovaginal perineoscrotal hypospadias
To estrogens
* Aromatase deficiency
* Aromatase excess syndrome
Other
* X-linked ichthyosis
* Antley–Bixler syndrome
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Smith–Lemli–Opitz syndrome
|
c2713347
| 28,019 |
wikipedia
|
https://en.wikipedia.org/wiki/Smith%E2%80%93Lemli%E2%80%93Opitz_syndrome
| 2021-01-18T18:45:54 |
{"gard": ["5683"], "mesh": ["D019082"], "umls": ["C2713347"], "icd-9": ["759.89"], "orphanet": ["818"], "wikidata": ["Q998273"]}
|
Vibratory urticaria is a condition in which exposing the skin to vibration, repetitive stretching, or friction results in allergy symptoms such as hives (urticaria), swelling (angioedema), redness (erythema), and itching (pruritus) in the affected area. The reaction can be brought on by towel drying, hand clapping, running, a bumpy ride in a vehicle, or other repetitive stimulation. Headaches, fatigue, faintness, blurry vision, a metallic taste in the mouth, facial flushing, and more widespread swelling (especially of the face) can also occur during these episodes, especially if the stimulation is extreme or prolonged. The reaction occurs within a few minutes of the stimulation and generally lasts up to an hour. Affected individuals can have several episodes per day.
## Frequency
Vibratory urticaria is a rare disorder; its prevalence is unknown. It belongs to a class of disorders called physical urticarias in which allergy symptoms are brought on by direct exposure to factors such as pressure, heat, cold, or sunlight. Physical urticarias have been estimated to occur in up to 5 per 1,000 people.
## Causes
Vibratory urticaria can be caused by a mutation in the ADGRE2 gene. This gene provides instructions for making a protein found in several types of immune system cells, including mast cells. Mast cells, which are found in many body tissues including the skin, are important for the normal protective functions of the immune system. They also play a role in allergic reactions, which occur when the immune system overreacts to stimuli that are not harmful. The specific role of the ADGRE2 protein in mast cells is not well understood.
The ADGRE2 protein consists of two parts (subunits) that interact with each other: an alpha subunit that lies on the outside surface of the cell and a beta subunit that crosses the cell membrane and extends into the cell. The ADGRE2 gene mutation that causes vibratory urticaria changes a single protein building block (amino acid) in the alpha subunit, altering the protein structure and leading to a less stable interaction between the two subunits. This fragile connection can be more easily broken; vibration, friction, or stretching of the skin can disrupt the association between subunits in mast cells. Researchers suggest that once the subunits are disconnected, the beta subunit signals the mast cells to react and produce the allergy symptoms in the skin that occur in vibratory urticaria.
Some people with vibratory urticaria do not have a mutation in the ADGRE2 gene. In these affected individuals, the cause of the disorder is unknown.
### Learn more about the gene associated with Vibratory urticaria
* ADGRE2
## Inheritance Pattern
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
In most cases, an affected person has one parent with the condition.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Vibratory urticaria
|
c1852146
| 28,020 |
medlineplus
|
https://medlineplus.gov/genetics/condition/vibratory-urticaria/
| 2021-01-27T08:25:38 |
{"gard": ["9806"], "mesh": ["C536612"], "omim": ["125630"], "synonyms": []}
|
A number sign (#) is used with this entry because of evidence that left ventricular noncompaction-1 (LVNC1) is caused by a heterozygous mutation in the alpha-dystrobrevin gene (DTNA; 601239) on chromosome 18q12.
Description
Left ventricular noncompaction (LVNC) is characterized by numerous prominent trabeculations and deep intertrabecular recesses in hypertrophied and hypokinetic segments of the left ventricle (Sasse-Klaassen et al., 2004). The mechanistic basis is thought to be an intrauterine arrest of myocardial development with lack of compaction of the loose myocardial meshwork. LVNC may occur in isolation or in association with congenital heart disease. Distinctive morphologic features can be recognized on 2-dimensional echocardiography (Kurosaki et al., 1999). Noncompaction of the ventricular myocardium is sometimes referred to as spongy myocardium. Stollberger et al. (2002) commented that the term 'isolated LVNC,' meaning LVNC without coexisting cardiac abnormalities, is misleading, because additional cardiac abnormalities are found in nearly all patients with LVNC.
### Genetic Heterogeneity of Left Ventricular Noncompaction
A locus for autosomal dominant left ventricular noncompaction has been identified on chromosome 11p15 (LVNC2; 609470).
LVNC3 (see 605906) is caused by mutation in the LDB3 gene (605906) on chromosome 10q23. LVNC4 (see 613424) is caused by mutation in the ACTC1 gene (102540) on chromosome 15q14. LVNC5 (see 613426) is caused by mutation in the MYH7 gene (160760) on chromosome 14q12. LVNC6 (see 601494) is caused by mutation in the TNNT2 gene (191045) on chromosome 1q32. LVNC7 (615092) is caused by mutation in the MIB1 gene (608677) on chromosome 18q11. LVNC8 (615373) is caused by mutation in the PRDM16 gene (605557) on chromosome 1p36. LVNC9 (see 611878) is caused by mutation in the TPM1 gene (191010) on chromosome 15q22. LVNC10 (615396) is caused by mutation in the MYBPC3 gene (600958) on chromosome 11p11.
LVNC can also occur as part of an X-linked disorder, Barth syndrome (302060), caused by mutation in the TAZ gene (300394) on chromosome Xq28.
Nomenclature
Although left ventricular noncompaction (LVNC) has been classified as a primary genetic cardiomyopathy by the American Heart Association (Maron et al., 2006), Monserrat et al. (2007) stated that it is controversial whether LVNC should be considered a distinct cardiomyopathy or rather a phenotypic variant of other primary cardiomyopathies, noting that patients fulfilling echocardiographic criteria for LVNC may have associated phenotypes of dilated cardiomyopathy (see CMD1A, 115200), hypertrophic cardiomyopathy (see CMH1, 192600), or restrictive cardiomyopathy (see RCM1, 115210). Monserrat et al. (2007) concluded that with current diagnostic criteria, LVNC, CMH, RCM, and even CMD could appear as overlapping entities, and should not be considered mutually exclusive.
Clinical Features
Chin et al. (1990) described the echocardiographic characteristics of left ventricular noncompaction in 8 patients, 5 males and 3 females. Clinical manifestations of the disorder included depressed left ventricular systolic function in 5 patients, ventricular arrhythmias in 5, systemic embolization in 3, and distinctive facial dysmorphism in 3. Among the 5 male patients, there were 2 sets of brothers from 2 unrelated families.
Cao et al. (2017) reported a 39-year-old man with a diagnosis of LVNC who had a history of exercise-related chest distress and palpitation for 8 years without a family history of sudden cardiac death. Transthoracic echocardiography showed prominent trabeculations and intertrabecular recesses in the apex of the left ventricle, with a 17-mm uncompacted layer versus a 7-mm compacted layer. The end-diastolic diameter of the left ventricle was 80 mm. Diffuse hypokinesis was present with a left ventricular ejection fraction (LVEF) of 34%. ECG showed a first-degree atrioventricular block.
### Patients without an Identified Mutation
Kurosaki et al. (1999) described a possibly autosomal dominant form of isolated noncompaction of the left ventricular myocardium. The proband was a 58-year-old male. His parents were cousins, and both died of cerebral infarction. It was unknown whether or not they had suffered from heart disease. The proband had had recent onset of faintness and palpitation. His nose was flat and upturned, similar to a saddle nose. Electrocardiography showed first-degree atrioventricular block and complete right bundle branch block. On 2-dimensional echocardiography, the main abnormality consisted of prominent trabeculations of the left ventricular apex with deep intertrabecular spaces. Physical and electrocardiographic examinations were performed in 9 of 17 members of 3 generations of the family, and 2-dimensional and Doppler echocardiography were performed in those members who showed characteristic facial dysmorphism or electrocardiographic abnormalities. In this way, noncompaction of the left ventricular myocardium was diagnosed in 4 other members of the family. The proband's older brother was seen at the age of 48 years for palpitation and shortness of breath. Electrocardiography showed normal sinus rhythm with left bundle branch block, which developed into chronic atrial fibrillation in later years. Nonsustained ventricular tachycardia and sinus arrest for 7.9 seconds were detected by Holter electrocardiography. At the age of 52 and 56, he suffered small episodes of cerebral embolism. He died of progressive congestive heart failure at the age of 59 years. Autopsy showed trabeculations at the apex of the left ventricle. This man's son, at the age of 31, showed no facial dysmorphism, but electrocardiography showed incomplete right bundle branch block and 2-dimensional echocardiography showed systolic left ventricular dysfunction with prominent trabeculations in the apical portion. The proband's son, at the age of 30, showed normal left ventricular contraction with marked trabeculations at the apex and blood flow within intertrabecular spaces, on echocardiography.
### Reviews
Ichida (2009) reviewed the clinical features and genetics of left ventricular noncompaction, noting that it was first described in 1990. The clinical presentation is highly variable, ranging from asymptomatic to severe heart failure and sudden death. Higher occurrence of familial cases, facial dysmorphism, and congenital arrhythmias such as Wolff-Parkinson-White syndrome (see 194200) are observed in children, whereas secondary arrhythmias, such as atrial fibrillation, are more common in adults. The mode of inheritance is predominantly autosomal dominant, and sarcomere protein mutations are more common in adults. Ichida (2009) suggested that there may be a different underlying etiology between childhood and adult cases. In addition, noting the high incidence of LVNC in adults, Ichida (2009) suggested that hypertrabeculation may occur secondary to other events and that LVNC may be overdiagnosed because of sensitive diagnostic criteria, which should be reappraised.
Pathogenesis
The developing myocardium gradually condenses, and the large spaces within the trabecular meshwork flatten or disappear. Isolated noncompaction of ventricular myocardium, sometimes called spongy myocardium or persisting myocardial sinusoids, represents an arrest in endomyocardial morphogenesis, and is characterized by numerous, excessively prominent trabeculations and deep intertrabecular recesses (Chin et al., 1990).
Cytogenetics
Pauli et al. (1999) described a 7.5-year-old girl with a complex heart malformation including ventricular myocardial noncompaction. She was found to have a distal 5q deletion, del(5)(q35.1-q35.3). FISH showed that this deletion included the locus for the cardiac-specific homeobox gene CSX (600584). Pauli et al. (1999) interpreted the findings to suggest that in some instances ventricular myocardial noncompaction can be caused by haploinsufficiency of CSX.
Inheritance
Autosomal dominant transmission of ventricular noncompaction was suggested by the families reported by Hamamichi et al. (1996), Ritter et al. (1997), and Sasse-Klaassen et al. (2003). Two pairs of sibs reported by Hamamichi et al. (1996) were cousins, and their fathers were brothers. Ritter et al. (1997) described an affected father and daughter. In addition to the 4 female patients observed in these 2 families, Matsuda et al. (1999) pointed to 10 female patients without familial occurrence but with clinical manifestations similar to those of a total of 33 male patients.
Molecular Genetics
In affected members of a 4-generation Japanese family with left ventricular noncompaction, Ichida et al. (2001) identified a missense mutation in the DTNA gene (P121L; 601239.0001). Of the 6 individuals with LVNC, only 1 had no other congenital heart defects; the other 5 all had at least 1 ventricular septal defect, and 1 patient also had a patent ductus arteriosus, another had hypoplastic left ventricle, and another died with a hypoplastic left heart. In a second Japanese family with LVNC and congenital heart defects in which a mother and 2 daughters were affected, no mutation in alpha-dystrobrevin or in the X-linked TAZ gene (300394) was found by Ichida et al. (2001).
In a 39-year-old man with a diagnosis of LVNC, in whom mutations in 8 candidate genes were excluded, Cao et al. (2017) identified a heterozygous missense mutation in the DTNA gene (N49S; 601239.0002) by Sanger sequencing. The mutation was not found in the NHLBI ESP or 1000 Genomes Project databases or in 400 ethnically matched controls. A cardiac-specific transgenic mouse model that overexpressed Dtna with the N49S mutation was found to have a progressive cardiomyopathy characterized by dilated and thinner LV, cardiac systolic dysfunction, and age-related LV hypertrabeculation.
Genotype/Phenotype Correlations
Probst et al. (2011) reported a cohort of 63 LVNC probands, previously studied by Klaassen et al. (2008), in which 8 sarcomere genes were analyzed and heterozygous mutations found in 18 (29%) of the probands: 8 mutations were in the MYH7 gene, 5 in MYBPC3, 2 in ACTC1, 2 in TPM1, and 1 in TNNT2. There were no significant differences between mutation-positive and mutation-negative probands in terms of average age, myocardial function, or presence of heart failure or tachyarrythmias at initial presentation or at follow-up. Probst et al. (2011) noted that although 8 of the 15 distinct mutations were novel in this cohort, they were likely not specific to LVNC, because the other 7 mutations had previously been described in patients with other forms of cardiomyopathy, including hypertrophic (see CMH1, 192600) and dilated (see CMD1A, 115200) forms.
Animal Model
Isolated noncompaction of left ventricular myocardium is observed in mice in which the FK506-binding protein-1A gene (FKBP1A; 186945) has been 'knocked out' by embryonic stem cell technology. The FKBP1A gene maps to 20p13.
INHERITANCE \- Autosomal dominant CARDIOVASCULAR Heart \- Left ventricular noncompaction \- Prominent endomyocardial trabeculations \- Left ventricular hypertrophy \- Decreased left ventricular function \- Congestive heart failure \- Ventricular septal defect \- Hypoplastic left heart \- Atrial fibrillation \- Mitral regurgitation, mild \- Sudden cardiac death Vascular \- Patent ductus arteriosus MOLECULAR BASIS \- Caused by mutation in the alpha-dystrobrevin gene (DTNA, 601239.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
LEFT VENTRICULAR NONCOMPACTION 1
|
c1960469
| 28,021 |
omim
|
https://www.omim.org/entry/604169
| 2019-09-22T16:12:24 |
{"doid": ["0060480"], "omim": ["604169"], "orphanet": ["54260"], "synonyms": ["Alternative titles", "LEFT VENTRICULAR NONCOMPACTION 1 WITH OR WITHOUT CONGENITAL HEART DEFECTS"]}
|
Zhang et al. (2008) reported a 5-generation kindred in which early-onset essential tremor segregated with late-onset idiopathic normal pressure hydrocephalus (iNPH). Inheritance was autosomal dominant. Fifteen individuals had essential tremor with onset between 16 and 44 years of age. Three individuals with essential tremor over the age of 65 developed NPH. The proband, a 76-year-old man, had evidence of congenital hydrocephalus with late decompensation. Diagnosis of NPH was indicated by rapidly progressive gait impairment, enlarged ventricles, increased head circumference, and favorable response to shunting. Linkage analysis excluded known loci for essential tremor (see 190300). Zhang et al. (2008) hypothesized that the essential tremor in this family results from abnormal function of a specific neuronal gene, which also causes the development of NPH later in life.
INHERITANCE \- Autosomal dominant HEAD & NECK Head \- Increased head circumference NEUROLOGIC Central Nervous System \- Essential tremor \- Normal pressure hydrocephalus \- Enlarged ventricles \- Impaired gait MISCELLANEOUS \- Onset of essential tremor between 16 and 44 years \- Onset of normal pressure hydrocephalus after age 65 years ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
TREMOR, HEREDITARY ESSENTIAL, AND IDIOPATHIC NORMAL PRESSURE HYDROCEPHALUS
|
c2678494
| 28,022 |
omim
|
https://www.omim.org/entry/611808
| 2019-09-22T16:02:49 |
{"mesh": ["C567519"], "omim": ["611808"]}
|
## Clinical Features
Tutuncuoglu et al. (1996) described a 46,XY Turkish male infant with microcephaly, severe hypoplasia of the corpus callosum, exophthalmos, cleft lip and palate, seizures, and psychomotor retardation. His parents were first cousins. A similar case was reported by Howard and Young (1988), but their patient also had preaxial polydactyly. Marles and Chudley (1990) described similar findings in a 9-month-old boy: failure to thrive, developmental delay, bilateral cleft lip and palate, and left preaxial polydactyly. The boy had a broad nasal bridge and bilateral epicanthic folds. A right inguinal hernia was repaired surgically. The parents were not related.
Inheritance
Tutuncuoglu et al. (1996) suggested that this condition may be an autosomal recessive disorder.
Head \- Microcephaly Neuro \- Hypoplasia of corpus callosum \- Seizures \- Psychomotor retardation Inheritance \- Autosomal recessive Limbs \- Preaxial polydactyly Eyes \- Exophthalmos Mouth \- Cleft lip/palate ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
MICROCEPHALY, CORPUS CALLOSUM DYSGENESIS, AND CLEFT LIP/PALATE
|
c1832369
| 28,023 |
omim
|
https://www.omim.org/entry/601420
| 2019-09-22T16:14:53 |
{"mesh": ["C537547"], "omim": ["601420"]}
|
A rare vascular anomaly or angioma characterized by the presence of small, multifocal bluish-purple venous lesions mainly involving the skin.
## Epidemiology
Glomuvenous malformations (GVMs) prevalence is unknown; over 200 families or cases have been reported in the literature. It is estimated that GVMs account for 70-80% of inherited venous-type malformations ; the rest being cutaneomucosal venous malformations (VMCMs).
## Clinical description
GVMs may be present at birth, and slowly expand during childhood. New small lesions appear with time. They are usually hyperkeratotic, raised and nodular with a cobblestone surface. Color varies from pink to purplish-dark blue. However, in some cases (especially in newborns) the lesions may be flat and purple in color; this plaque-like GVM usually darkens with time. GVMs are often painful on palpation and cannot be completely emptied by compression. They are usually multifocal and are located mainly on the extremities, involving the skin and subcutis. They are rarely encountered in mucosae and intestinal hemorrhage is not a feature of this condition. There is significant clinical variation with respect to the size, location and number of lesions, even between affected individuals from the same family. For example, plaque-like GVM-lesions on the thorax can be associated with pleural effusions. Patients with GVMs have normal mental and physical development.
## Etiology
GVMs are caused by mutations in the gene encoding glomulin (GLMN; 1p22.1). Inheritance pattern is autosomal dominant. The inherited mutations cause loss-of-function of glomulin. The lesions develop in areas where a double-hit mutation has occurred, indicating that GVM lesions are due to complete localized loss of glomulin. The most frequent somatic second hit is an acquired uniparental isodisomy, which leads to loss of the normal copy, and duplication of the mutated copy in cells within the lesion.
## Diagnostic methods
Diagnosis of GVM is based on clinical evaluation of the cutaneous lesions. Confirmation can be obtained via a blood sample for molecular genetic testing. Doppler ultrasound examination and MRI can be used to confirm the venous component and the common superficial extent of the lesions. Histologically, GVMs are characterized by the presence of abnormal mural cells called "glomus cells'' which help differentiate from common venous malformations and VMCM.
## Differential diagnosis
The differential diagnosis should include mucocutaneous venous malformations (VMCMs, which are also commonly seen on mucosal membranes, are lighter purple in color than GMVs, and are compressible and generally not painful on palpation, and caused by inherited TIE2/TEK mutations) and Blue rubber bleb nevus syndrome (characterized by the association of cutaneous and mucosal venous-like lesions with gastrointestinal lesions, and caused by somatic TIE2/TEK mutations).
## Antenatal diagnosis
Prenatal diagnosis is feasible for affected families in which the disease-causing mutation has been identified, but is not widely available.
## Genetic counseling
GVMs are inherited in an autosomal dominant manner. Genetic counseling should be provided for affected families, informing patients of a 50% risk of inheriting the disease-causing mutation and of the variability in clinical expression.
## Management and treatment
The most effective treatment is plastic and reconstructive surgery, used depending on the size and location of the lesions. Laser can be effective, especially for small flat lesions as well as plaque-like lesions. Sclerotherapy may be indicated in some cases: the sclerosing agent such as foam aethoxysclerol is associated with less skin necrosis than ethanol (96%). Another sclerosing agent is ethanol (96%) in the form of a gel for injection, which obtained EU orphan drug designation in April 2005 for the treatment of congenital venous malformations.
## Prognosis
The prognosis for patients is good, malignant transformation has not been reported and the life expectancy for patients is not reduced.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Glomuvenous malformation
|
c1841984
| 28,024 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=83454
| 2021-01-23T18:36:03 |
{"mesh": ["C536827"], "omim": ["138000"], "umls": ["C1841984"], "icd-10": ["Q27.8"], "synonyms": ["Glomangiomatosis", "Hereditary multiple glomangiomas", "Multiple glomus tumors", "VMGLOM", "Venous malformations with glomus cells"]}
|
SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age, but may develop later in life or never.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
SHOX-related short stature
|
c1845118
| 28,025 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=314795
| 2021-01-23T17:07:13 |
{"mesh": ["C564479"], "omim": ["300582"], "icd-10": ["Q87.1"]}
|
With only 0.2 percent of the adult population estimated to be HIV-positive, Nicaragua has one of the lowest HIV prevalence rates in Central America. HIV was first detected in Nicaragua in 1987, after concentrated epidemics had been reported in other Central American nations. The onset of the epidemic was likely delayed by Nicaragua’s 10-year civil war and the U.S.-led economic blockade, both of which left the country isolated for several years. Relative control over commercial sex work, low infection rates among injecting drug users, and a ban on the commercial sale of blood also slowed HIV transmission. However, the country is at risk of a broader epidemic because of social conditions such as multiple sex partners, gender inequality, and widespread poverty. Many people are unaware of their HIV status and could unwittingly spread the disease. UNAIDS estimates Nicaragua has 7,300 HIV-positive people, nearly half of whom were identified over the past three years.[1]
Sexual activity is the primary mode of HIV transmission in Nicaragua. Unprotected heterosexual intercourse is reported to account for 72 percent of HIV infections, and unprotected sex between men is estimated to account for 26 percent, according to UNAIDS. However, it is likely that the former is over-reported and the latter under-reported because of stigma and discrimination (S&D) against homosexuals. HIV prevalence among men who have sex with men (MSM) is significantly higher (7.6 percent) than among sex workers or the general population. A 2002 study reported by UNAIDS demonstrated that infection levels among MSM were 38 times higher than among the general population. The latest study on HIV among commercial sex workers reported by UNAIDS demonstrated a prevalence of only 0.2 percent in that group. As of September 2005, more than half of reported HIV cases occurred among 20- to 39-year-olds, according to Nicaragua’s 2006 United Nations General Assembly Special Session on HIV report.[1]
Factors that put Nicaraguans at risk include early sexual debut; social pressures for males to have multiple sexual partners and take sexual risks; widespread poverty; women’s and girls’ inability to negotiate when and under what circumstances to have sex or use condoms; gender-based violence; and sexual abuse of women and girls. Compounding these factors, access to HIV/AIDS services and information is limited in much of the country due to budgetary priorities and limitations. Moreover, conservative religious and social values make it difficult to talk about sex and ways to protect oneself from disease or unwanted pregnancy.[1]
## National response[edit]
Traditionally, HIV/AIDS prevention has not been a national priority in Nicaragua because HIV prevalence is low. The National Program for the Prevention and Control of HIV/AIDS and Sexually Transmitted Infections was not established until 1998. Before that, the Government of Nicaragua enacted the Law for the Promotion, Protection and Defense of Human Rights of People Living With HIV/AIDS (Law 238) in 1996, but the law did not go into effect until 1999. Law 238 created the Nicaraguan AIDS Commission (CONISIDA) in 2000, which is charged with enforcing the law and guiding the national response to HIV/AIDS. However, CONISIDA lacks the organizational and technical capacity to effectively fulfill its role in supporting government and civil society efforts to assist people living with HIV/AIDS (PLWHA) and prevent the spread of HIV. Of particular concern is CONISIDA’s failure to adequately ensure the rights of PLWHA. The Country Coordinating Mechanism, formed in 2000, has a variety of prominent members, including representatives from government; multilateral, nongovernmental, and educational organizations; the private sector; religious groups; and representatives of PLWHA. It oversees the HIV/AIDS grant from the Global Fund to Fight AIDS, Tuberculosis and Malaria. The Global Fund grant is for more than $10.1 million from 2004 to 2009. The purpose of the grant is to build on the existing national strategic plan for HIV/AIDS and other sexually transmitted infections (STIs) by strengthening prevention, care, and support activities; by ensuring comprehensive care for PLWHA; and by documenting all AIDS cases within the national surveillance system.[1]
In 2006, the government approved a new national strategic plan for 2005 to 2009 and a new national AIDS policy. Current efforts focus on increasing the response capacity of the health sector and ensuring the sustainability of measures and actions taken. The Ministry of Health (MOH) has integrated its HIV/AIDS and tuberculosis programs and adopted protocols for treating co-infected patients; however, it has not been able to achieve efficient coordination of the two programs in practice. Nicaragua is also strengthening primary care and implementing awareness, prevention, and protection efforts.[1]
Nicaragua is a partner in the Brazil+7 initiative, a UNICEF-, UNAIDS-, and Brazilian-led effort dedicated to expanding HIV/AIDS prevention, treatment, and care for pregnant women and young people; to offering universal access to antiretroviral medication for PLWHA; and to ensuring universal access to services for preventing mother-to-child transmission. The other partner countries are São Tomé and Príncipe, Bolivia, Paraguay, Cape Verde, Guinea-Bissau, and East Timor.[1]
## See also[edit]
* HIV/AIDS in North America
* Healthcare in Nicaragua
## References[edit]
1. ^ a b c d e f "Health Profile: Nicaragua" (PDF). United States Agency for International Development. June 2008. Archived from the original (PDF) on 17 August 2008. Retrieved 7 September 2008. This article incorporates text from this source, which is in the public domain.
* v
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HIV/AIDS in North America
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* List of countries by HIV/AIDS adult prevalence rate
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*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
HIV/AIDS in Nicaragua
|
None
| 28,026 |
wikipedia
|
https://en.wikipedia.org/wiki/HIV/AIDS_in_Nicaragua
| 2021-01-18T19:07:23 |
{"wikidata": ["Q5629870"]}
|
Madelung deformity (MD) is a rare congenital (present from birth) condition in which the wrist grows abnormally and part of the radius, one of the bones of the forearms, stops growing early and is short and bowed. The other forearm bone, the ulna, keeps growing and can dislocate, forming a bump. Symptoms typically develop in mid- to late-childhood or early adolescence (around 6 to 13 years of age) and usually affect both wrists. It is more commonly observed in females. Symptoms include a decreased range of motion in the wrist, pain, and a visible difference in the appearance of the wrist. In addition to the abnormal growth, there is also an abnormal palmar (Vickers’ ligament) that is thought to contribute to the deformity. MD seems to be caused by a combination of both genetic and acquired factors (such as following a trauma or overuse of the joint). MD can also occur as part of another conditions. Leri Weill dyschondrosteosis, characterized by bilateral Madelung deformity and short stature with short arms and legs, is caused by mutations or losses of genetic material involving the SHOX gene. Some cases of isolated MD may be caused by alterations in the SHOX gene. Treatment may include medication, wrist splints and devices that reduce the pain, and surgical correction of the deformity.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Madelung deformity
|
c0152441
| 28,027 |
gard
|
https://rarediseases.info.nih.gov/diseases/12973/madelung-deformity
| 2021-01-18T17:59:16 |
{"mesh": ["C562398"], "synonyms": []}
|
Pulmonary arterial hypertension (PAH, see this term) associated with connective tissue disease (PAH-CTD) is a form of pulmonary arterial hypertension (PAH, see this term) characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of a connective tissue disease.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Pulmonary arterial hypertension associated with connective tissue disease
|
c3697982
| 28,028 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=275798
| 2021-01-23T18:10:27 |
{"icd-10": ["I27.2"], "synonyms": ["PAH associated with connective tissue disease"]}
|
Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Short stature due to partial GHR deficiency
|
c1858656
| 28,029 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=314802
| 2021-01-23T17:07:17 |
{"mesh": ["C565805"], "omim": ["604271"], "icd-10": ["E34.3"], "synonyms": ["Short stature due to partial growth hormone receptor deficiency"]}
|
Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.
## Epidemiology
Prevalence is estimated at 1/454,000 and incidence at 1/140,000 (South-West England, South Wales) to 1/300,000-1/400,000 live births (USA). BTHS affects male patients.
## Clinical description
Clinical presentation is highly variable. Most boys will develop DCM during the first decade, generally during the first year of life, which may be accompanied by endocardial fibroelastosis (EFE) and/or left ventricular noncompaction (LVNC). It may start in utero, causing cardiac failure, fetal hydrops and miscarriage or stillbirth during the 2nd/3rd trimester of pregnancy. Ventricular arrhythmia, especially during adolescence, can lead to sudden cardiac death. There is a significant risk of stroke. Skeletal (mostly proximal) myopathy causes delayed motor milestones, hypotonia, severe lethargy or exercise intolerance. There is a tendency to hypoglycemia during the neonatal period. Ninety percent of patients show mild to severe intermittent or persistent neutropenia with a risk of septicemia, severe bacterial sepsis, mouth ulcers and painful gums. Lactic acidosis and mild anemia may occur. Affected boys usually show delayed puberty and growth delay that is observed until the late teens or early 20s, when a substantial growth spurt often occurs. Patients may also present severe difficulties with adequate food intake. Episodic diarrhea is common. Many patients have a similar facial appearance with chubby cheeks, deep-set eyes and prominent ears.
## Etiology
BTHS is caused by mutations in the TAZ gene (tafazzin; Xq28) which encodes Taz1p acyltransferase involved in the metabolism of cardiolipin, a major phospholipid in inner mitochondrial membranes. Defective Taz1p function results in abnormal remodelling of cardiolipin which ultimately compromises mitochondrial structure or respiratory chain function.
## Diagnostic methods
Diagnosis was historically based on metabolic screening of urine showing elevated excretion of organic acids (typically 3-methylglutaconic acid (3-MGCA)), followed by TAZ gene sequencing. However, 3-MGC excretion may be normal even in severe cases. Analysis of the ratio of monolysocardiolipin (MLCL) / cardiolipin (CL) on blood, tissue, fibroblasts or stored neonatal bloodspots is therefore the diagnostic test of choice.
## Differential diagnosis
Differential diagnosis includes hereditary, dilated and nutritional cardiomyopathy and idiopathic/cyclic neutropenia (see these terms).
## Antenatal diagnosis
Prenatal diagnosis (chorionic villus biopsy and/or amniocentesis) is possible in families in which the mutation is known.
## Genetic counseling
Transmission is X-linked recessive. A son born to a female carrier has a 50% risk of inheriting the mutation and developing the disease, while a daughter has a 50% risk of being a carrier. All daughters of an affected male will be carriers but none of his sons will be affected.
## Management and treatment
Treatment is essentially supportive and multidisciplinary. Cardiac failure is treated with conventional drugs or by cardiac transplantation if refractory. The risk of bacterial sepsis in cases of intermittent neutropenia can be reduced by the use of prophylactic antibiotics and/or intermittent use of granulocyte-colony stimulating factor (G-CSF). Difficulties in feeding may necessitate nasogastric or gastrostomy tube feeding.
## Prognosis
Prognosis has greatly improved with early detection and improvements in treatment and management. Patients are already surviving into their 40s and are expected to live beyond this age.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Barth syndrome
|
c0574083
| 28,030 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=111
| 2021-01-23T19:09:35 |
{"gard": ["5890"], "mesh": ["D056889"], "omim": ["302060"], "umls": ["C0574083"], "icd-10": ["E71.1"], "synonyms": ["3-methylglutaconic aciduria type 2", "BTHS", "Cardioskeletal myopathy with neutropenia and abnormal mitochondria", "Cardioskeletal myopathy-neutropenia syndrome", "MGA2", "X-linked cardioskeletal myopathy and neutropenia"]}
|
A number sign (#) is used with this entry because congenital dysfibrinogenemia is caused by mutation in one of the fibrinogen genes: alpha (FGA; 134820), beta (FGB; 134830), or gamma (FGG; 134850). It is most often caused by heterozygous mutation, but can also be caused by homozygous or compound heterozygous mutation.
Congenital hypodysfibrinogenemia is caused by heterozygous, homozygous, or compound heterozygous mutation in one of the fibrinogen genes.
Description
Inherited disorders of fibrinogen affect either the quantity (afibrinogenemia and hypofibrinogenemia; 202400) or the quality (dysfibrinogenemia) of the circulating fibrinogen, or both (hypodysfibrinogenemia). Patients with dysfibrinogenemia are frequently asymptomatic, but some patients have bleeding diathesis, thromboembolic complications, or both (summary by de Moerloose and Neerman-Arbez, 2009). Reports (e.g., Haverkate and Samama, 1995) on approximately 350 families with dysfibrinogenemia revealed that approximately half of cases are clinically silent, a quarter show a tendency toward bleeding, and another quarter show a predisposition for thrombosis with or without bleeding (summary by Lefebvre et al., 2004).
Inheritance
Dominant inheritance of dysfibrinogenemia and hypofibrinogenemia is indicated by the pedigree patterns of many families. Dysfibrinogenemia may exemplify one mechanism for dominant inheritance: the mutant polypeptide may not participate normally as a subunit in the aggregate that is fibrinogen (Vogel and Motulsky, 1979). An unstable aggregate molecule results.
Dysfibrinogenemia is in most cases an autosomal dominant disorder (Asselta et al., 2006).
Recessive inheritance of dysfibrinogenemia has also been reported (e.g., Soria et al., 1972 and Blomback et al., 1968).
Pathogenesis
Mutations in the fibrinogen genes that cause dysfibrinogenemia affect any one of the functional properties of fibrinogen, including absence or delayed release of fibrinopeptides A and B, delayed or enhanced polymerization, defective cross-linking, decreased thrombin binding, and delayed plasmin digestion (summary by Asselta et al., 2006).
Molecular Genetics
Henschen et al. (1981) identified a missense mutation in the FGA gene as a cause of dysfibrinogenemia (R16C; 134820.0003). Flood et al. (2006) stated that the FGA R16C mutation is the most common fibrinogen mutation in humans. Although about 30% of the reported cases of the R16C mutation in humans are associated with hemorrhage, some 15% of reported cases are associated with thrombosis (Hanss and Biot, 2001).
In 3 Italian sibs with dysfibrinogenemia with thrombosis, Koopman et al. (1992) identified a homozygous mutation in the FGB gene (A68T; 134830.0007).
In affected members of a family with increased tendency to thrombosis and a mild hemorrhagic diathesis originally reported by Beck et al. (1965), Bantia et al. (1990) identified a heterozygous missense mutation in the FGG gene (G292V; 134850.0003).
Lefebvre et al. (2004) described a nonconsanguineous American family of European descent in which 2 sibs with hypodysfibrinogenemia had lifelong trauma-related bleeding. The brother had recurrent thrombosis after cryoprecipitate infusions following surgery. The sister had 6 miscarriages. The sibs were found to be compound heterozygous for a truncating and a splice site mutation in the FGA gene (134820.0024-134820.0025).
In affected members of a family with hypodysfibrinogenemia, originally described by Martinez et al. (1974), Keller et al. (2005) identified a heterozygous missense mutation in the FGG gene (S378P; 134850.0022).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
DYSFIBRINOGENEMIA, CONGENITAL
|
c0272350
| 28,031 |
omim
|
https://www.omim.org/entry/616004
| 2019-09-22T15:50:14 |
{"mesh": ["C562727"], "omim": ["616004"], "icd-10": ["D68.2"], "orphanet": ["98881", "248408", "335"]}
|
A number sign (#) is used with this entry because of evidence that Birk-Barel syndrome is caused by heterozygous mutation in the KCNK9 gene (605874) on chromosome 8q24.
Clinical Features
Barel et al. (2008) reported an Israeli-Arab kindred with an apparently maternally transmitted (imprinted with paternal silencing) syndrome of mental retardation, hypotonia, and characteristic dysmorphism. All affected individuals had moderate to severe mental retardation and were hyperactive. Severe feeding difficulties at infancy, requiring tube feeding in most, were followed in all patients by dysphagia of solid foods until near puberty. Generalized hypotonia at an early age was followed by weakness of proximal muscles and of the supra- and infrascapular and trapezius muscles. Coordination, tendon reflexes, deep and superficial sensation, and vibration were all normal. Babinski sign was negative. Hearing, vision, and ophthalmologic examination were normal. All affected individuals had similar dysmorphic features with most elements being more prominent at younger ages. The face was elongated with narrow bitemporal diameter, mild atrophy of temporalis and masseter muscles, and reduced facial movements. The eyebrows were flared, bushy, and arched upward, and downturned eyelids and congested conjunctivae were present in most patients. Ears were mildly protruding with a very prominent fold of the crux of the helix and a prominent antihelical fold. The nasal bridge was high and narrow with a broad nasal tip. The columella was normal, but the philtrum was extremely short, broad, and thick in all patients. The maxillary and premaxillary regions were prominent with hypotonia of the mandible and micrognathia, leading, in combination with the short philtrum, to an open-mouthed appearance. The lips were thick, with downturned upper lip and lower lip that was shorter than the upper lip. Most patients had a narrow, high-arched palate with full or submucous cleft and dysphonic speech. Large and protruding incisors were seen in younger patients. All patients had narrow, elongated necks, trunks, and feet. In some infants, mild joint contractures of the hips, elbows, phalanx, and feet were present and became prominent with age. Most patients had a pilonidal dimple or sinus. X-ray evaluation was normal. Muscle biopsies in 2 patients were compatible with spinal muscular atrophy, with normal molecular SMA tests. Mitochondria appeared normal on electron microscopy examination, and there was normal activity of the mitochondrial respiratory chain enzymes in muscle.
Graham et al. (2016) described 4 unrelated patients, aged 18 months to 3 years, with Birk-Barel syndrome. All had congenital hypotonia, developmental delay, feeding difficulties, restricted facial movements, and variable dysmorphic features, including dolichocephaly with bitemporal narrowing, short philtrum, tented upper lip, palatal abnormalities, and small mandible. Three of the patients tested had normal brain imaging. Two of the children were being treated with the nonsteroidal antiinflammatory drug mefenamic acid (MFA), one child for 6 months and the other for 1 year, with some improvement in development and responsiveness.
Mapping
Barel et al. (2008) performed linkage analysis of 7 affected individuals, 1 healthy individual, and 4 obligatory-transmitting mothers with 400 polymorphic markers. Assuming the disease was caused by mutation in a maternally imprinted gene, Barel et al. (2008) looked for a genomic locus with a haplotype shared by the obligatory transmitting healthy mothers and their affected children, but not their healthy children. They identified a single locus spanning 37.9 cm on chromosome 8q24, between marker D8S514 and the telomeric end of 8q. Further linkage analysis narrowed the interval.
Molecular Genetics
Within the interval on 8q24 linked to a mental retardation dysmorphism syndrome, Barel et al. (2008) identified only one imprinted gene: KCNK9 (605874), which undergoes paternal silencing in humans and mice and is exclusively expressed from the maternal allele in the brain. Barel et al. (2008) identified a missense mutation in exon 2 of the maternal copy of KCNK9, a gly236-to-arg substitution (G236R; 605874.0001). Identification of this mutation in all affected family members and their obligatory carrier mothers implied dominant inheritance with paternal imprinting. The mutation was not found in any of 548 chromosomes from ethnically matched controls.
By exome sequencing in 4 unrelated children with developmental delay and central hypotonia, Graham et al. (2016) identified de novo heterozygosity for the KCNK9 G236R mutation previously identified by Barel et al. (2008).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
BIRK-BAREL SYNDROME
|
c2676770
| 28,032 |
omim
|
https://www.omim.org/entry/612292
| 2019-09-22T16:01:52 |
{"doid": ["0050675"], "mesh": ["C567357"], "omim": ["612292"], "orphanet": ["166108"], "synonyms": ["Alternative titles", "BIRK-BAREL MENTAL RETARDATION DYSMORPHISM SYNDROME", "MENTAL RETARDATION WITH HYPOTONIA AND FACIAL DYSMORPHISM", "Intellectual disability-hypotonia-facial dysmorphism syndrome"], "genereviews": ["NBK425128"]}
|
A number sign (#) is used with this entry because of evidence that Burkitt lymphoma can be caused by somatic mutation in the MYC gene (190080) in addition to translocations involving the MYC gene and immunoglobulin genes (see 147220).
Description
Burkitt lymphoma is a rare, aggressive B-cell lymphoma that accounts for 30 to 50% of lymphomas in children but only 1 to 2% of lymphomas in adults (Harris and Horning, 2006). It results from chromosomal translocations that involve the MYC gene (190080) and either the lambda or the kappa light chain immunoglobulin genes (147220, 147200). Burkitt lymphoma is causally related to the Epstein-Barr virus (EBV), although the pathogenetic mechanisms are not clear.
Clinical Features
Anderson et al. (1986) described 2 sisters in an American family who died of Burkitt lymphoma at ages 11 and 22 years. The mother and 2 healthy brothers had abnormality of lymphocyte subsets. An inherited disturbance of lymphocytes was thought to underlie the familial aggregation for Burkitt lymphoma.
Cytogenetics
Most BL cell lines show a specific translocation involving chromosome 8 (breakpoint at 8q24) and either 2, 14 or 22. The type of immunoglobulins produced by this B-cell tumor correlates with the type of translocation (Lenoir et al., 1982): those with the 8;2 translocation produce predominantly kappa light chains; those with the 8;22 translocation produce lambda light chains; those with the 8;14 translocation produce immunoglobulins with both types of light chains. Furthermore, the kappa and lambda light chains map to the regions of 2p and 22q, respectively, that are involved in the breakpoint creating the translocations; in the 8;14 translocations, the breakpoint is the 14q32 band where the genes for immunoglobulin heavy chains map (Kirsch et al., 1982).
Klein (1981) suggested that the consistent involvement of 8q24 may indicate that activation of an onc gene underlies this tumor. In this connection, it is noteworthy that the mos onc gene (190060) has been assigned to chromosome 8; the regional localization will be of interest, as well as information on mos DNA sequences in BL. In Burkitt lymphoma of the t(8;22) type, the breakpoint in chromosome 22 is proximal to the lambda immunoglobulin constant gene cluster (147220), whereas in the translocation t(9;22) of CML (608232) it is distal (Emanuel et al., 1984). Burkitt lymphoma and related neoplasms have their analog in murine plasmacytomas (also referred to as myelomas) in which a specific translocation occurs between mouse chromosome 15 and either mouse chromosome 12 (which in the mouse carries the heavy chain genes) or mouse chromosome 6 (which carries the kappa light chain genes). Calame et al. (1982) identified a region of DNA on mouse chromosome 15 that is commonly rearranged in transformed mouse lymphocytes.
Haluska et al. (1987) presented evidence that the t(8;14) chromosome translocation of the Burkitt lymphoma cell line Daudi occurred during immunoglobulin gene rearrangement and involved the heavy chain diversity region (146910). They suggested that the translocation resulted from a recombinase error.
Neri et al. (1988) showed that the endemic, sporadic, and AIDS-associated forms of Burkitt lymphoma carrying t(8;14) chromosomal translocations display different breakpoints within the immunoglobulin heavy-chain locus. Cloning and sequencing of the t(8;14) chromosomal junctions from 2 endemic BL cell lines and 1 endemic BL biopsy sample showed that the recombinations did not involve IGH-specific recombination signals on chromosome 14 or homologous sequences on chromosome 8. Thus, these events probably were not mediated by the same mechanisms or enzymes as in IGH rearrangement.
Pathogenesis
EBV is stably maintained and partially expressed in Burkitt lymphoma and in nasopharyngeal carcinoma. Latently infected cells usually contain multiple episomal copies of nonintegrated viral DNA. In 2 Burkitt cell lines, Henderson et al. (1983) showed that EBV was also integrated into a chromosome, but different chromosomes (chromosomes 1 and 4). The persistence of EBV in latently infected cells over years of active cell replication may be explained by integration. It is noteworthy that the site of integration is removed from those involved in the translocation. 'The simplest model to explain EBV association with Burkitt tumors is that EBV induces B-cell proliferation and thereby provides enhanced opportunity for chromosomal translocation and malignant degeneration' (Henderson et al., 1983).
Haluska et al. (1987) suggested the following scenario for African Burkitt lymphoma: EBV is a polyclonal activator of B lymphocytes, and infection of normal B cells in vitro by EBV is associated with immortalization. In regions of equatorial Africa where Burkitt lymphoma is endemic, 80% of children demonstrate evidence of EBV infection. Malaria is also hyperendemic in the area and causes immunosuppression. Polyclonal B-lymphocyte proliferation therefore proceeds unchecked in the absence of T-cell suppression, probably enlarging the population of cells susceptible to translocation. Translocation involving the IgH locus (147100) leads to deregulation of the MYC oncogene. In Europe and North America, childhood EBV infection is less frequent, as is malaria. Burkitt lymphoma appears to occur in mature B cells following antigenic stimulation and during isotype switching.
EBV is associated with nearly all BL in Africa, but is only associated with 20% or fewer cases of sporadic BL worldwide. All BL tumors share the translocation of Ig and MYC genes. Following EBV infection of primary B lymphocytes, EBV-determined nuclear antigens (EBNA) appear, first EBNA2, a transcriptional activator of specific viral and cellular genes, particularly in the NOTCH (see 190198) pathway, then EBNA-leader protein and the other EBNAs. Latent membrane proteins are then expressed, including LMP1, which interacts with TRAFs (see 601896), and the abundant EBERs (EBV-encoded small nonpolyadenylated RNAs), which are transcribed by RNA polymerase III (see 606007).
Komano et al. (1998) showed that EBV-negative BL clones infected with recombinant virus regained the ability of the EBV-positive parent clone to grow on soft agar and to be tumorigenic in immunodeficient SCID mice. In addition, the EBV-positive lines expressed higher levels of BCL2 (151430) and were more resistant to apoptosis than EBV-negative cells. Transfection of EBNA1, which is required for replication of the viral episome, into EBV-negative BL lines did not restore the malignant phenotype or apoptosis resistance. Komano et al. (1998) concluded that persistence of EBV is required for BL malignancy and apoptosis resistance.
Komano et al. (1999) showed that transfection of EBER1 and EBER2 into EBV-negative BL lines restored the capacity for malignancy and apoptosis resistance. They suggested that EBV infection upregulates BCL2 expression, protects cells from MYC-induced apoptosis, and permits MYC to exert its oncogenic functions.
Kitagawa et al. (2000) found that the EBERs of EBV-positive Akata and Mutu BL cell lines activated higher levels of IL10 (124092) expression than EBV-negative cells and enabled growth of BL cells. RT-PCR analysis revealed that EBV-positive but not EBV-negative BL tumors expressed both EBERs and IL10, suggesting that BL cells use IL10 as an autocrine growth factor. IL10 enhanced the growth of EBV-negative cells in culture, but transfection of IL10 into such cells did not confer tumorigenicity in SCID mice. Kitagawa et al. (2000) proposed that RNA molecules can regulate cell growth.
The EBV growth-transforming (Latency III) program of gene expression is extinguished in tumor cells, and only a single viral protein, EBNA1, is expressed via the alternative Latency I program. It was not known if BL arises from a B-cell subset in which EBV naturally adopts a Latency I infection or if selection of a clone with limited antigen expression from an EBV-transformed Latency III progenitor pool occurs. Kelly et al. (2002) identified a subset of BL tumors in which the Latency III-associated EBNA promoter Wp is active and most EBNAs are expressed, but where a gene deletion has specifically abrogated the expression of EBNA2. Kelly et al. (2002) concluded that BL can be selected from a Latency III progenitor and that the principal selection pressure is for downregulation of the c-Myc antagonist EBNA2.
Schmitz et al. (2012) used high-throughput RNA sequencing and RNA interference screening to discover essential regulatory pathways in BL that cooperate with MYC (190080), the defining oncogene of this cancer. In 70% of sporadic BL cases, mutations affecting the transcription factor TCF3 (E2A; 147141) or its negative regulator ID3 (600277) fostered TCF3 dependency. TCF3 activated the prosurvival phosphatidylinositol-3OH kinase pathway in BL, in part by augmenting tonic B-cell receptor signaling. In 38% of sporadic BL cases, oncogenic CCND3 (123834) mutations produced highly stable cyclin D3 isoforms that drive cell cycle progression.
Varano et al. (2017) studied the effects of BCR (151410) ablation on MYC-driven mouse B-cell lymphomas and compared them with observations in human Burkitt lymphoma. Whereas BCR ablation does not, per se, significantly affect lymphoma growth, BCR-negative (BCR-) tumor cells rapidly disappear in the presence of their BCR-expressing (BCR+) counterparts in vitro and in vivo. This requires neither cellular contact nor factors released by BCR+ tumor cells. Instead, BCR loss induces the rewiring of central carbon metabolism, increasing the sensitivity of receptor-less lymphoma cells to nutrient restriction. The BCR attenuates glycogen synthase kinase-3-beta (GSK3-beta; 605004) activity to support MYC-controlled gene expression. BCR- tumor cells exhibit increased GSK3-beta activity and are rescued from their competitive growth disadvantage by GSK3-beta inhibition. BCR- lymphoma variants that restore competitive fitness normalize GSK3-beta activity after constitutive activation of the MAPK (see 176948) pathway, commonly through Ras (see 190020) mutations. Similarly, in Burkitt lymphoma, activating RAS mutations may propagate immunoglobulin-crippled tumor cells, which usually represent a minority of the tumor bulk. Thus, while BCR expression enhances lymphoma cell fitness, BCR-targeted therapies may profit from combinations with drugs targeting BCR- tumor cells.
Molecular Genetics
Bhatia et al. (1993) screened the MYC gene in a panel of 57 BL biopsies and cell lines and found that 65% had at least 1 amino acid substitution (see, e.g., 190080.0001-190080.0004). The mutations were apparently homozygous in all BL cell lines tested and in 2 tumor biopsies, implying that the mutations often occur before MYC/immunoglobulin translocation in BL.
Harris and Horning (2006) reviewed the work of Hummel et al. (2006) and Dave et al. (2006), which reported the use of gene expression microarray technology to improve the accuracy of the diagnosis of Burkitt lymphoma. Both studies concluded that the gene expression profiling of cases classified as Burkitt lymphoma by expert pathologists identifies a characteristic genetic signature that clearly distinguishes this tumor from cases of diffuse large B-cell lymphoma. Burkitt lymphoma is rapidly fatal if untreated, but it is curable with intensive chemotherapy, typically, high doses of cyclophosphamide and antimetabolites, as well as intrathecal chemotherapy. The treatment that is appropriate for diffuse large B-cell lymphoma is not curative for Burkitt lymphoma.
Using whole-genome, whole-exome, and transcriptome sequencing of 4 prototypical Burkitt lymphomas with immunoglobulin gene (IG)-MYC translocation, Richter et al. (2012) identified 7 recurrently mutated genes. One of these genes, ID3, mapped to a region of focal homozygous loss in Burkitt lymphoma. In an extended cohort, 36 of 53 molecularly defined Burkitt lymphomas (68%) carried potentially damaging mutations of ID3. These were strongly enriched at somatic hypermutation motifs. Only 6 of 47 other B-cell lymphomas with the IG-MYC translocation (13%) carried ID3 mutations. Richter et al. (2012) concluded that their findings suggested that cooperation between ID3 inactivation and IG-MYC translocation is a hallmark of Burkitt lymphomagenesis.
Love et al. (2012) described the first completely sequenced genome from a Burkitt lymphoma tumor and germline DNA from the same affected individual, and further sequenced the exomes of 59 Burkitt lymphoma tumors and compared them to sequenced exomes from 94 diffuse large B-cell lymphoma tumors. Love et al. (2012) identified 70 genes that were recurrently mutated in Burkitt lymphomas, including ID3, GNA13 (604406), RET (164761), PIK3R1 (171833), and the SWI/SNF genes ARID1A (603024) and SMARCA4 (603254). Love et al. (2012) stated that their data implicate a number of genes in cancer for the first time, including CCT6B (610730), SALL3 (605079), FTCD (606806), and PC (608786). ID3 mutations occurred in 34% of Burkitt lymphomas and not in diffuse large B-cell lymphomas (DLBCLs). Love et al. (2012) showed experimentally that ID3 mutations promote cell cycle progression and proliferation.
History
Denis Parsons Burkitt, who died in 1993 at the age of 82, was famed for the distinctive lymphoma he described and for the dietary fiber hypothesis he developed and espoused (Heaton, 1993).
INHERITANCE \- Isolated cases \- Somatic mutation NEOPLASIA \- Burkitt lymphoma (B-cell lymphoma) \- Jaw and kidney tumor (endemic form) \- Ileal, cecal, ovarian, and breast tumors, occasionally (endemic form) \- Abdominal tumors (immunodeficiency-associated form) \- Monomorphic cells, medium-sized, with round nuclei, multiple nucleoli, and moderate amount of cytoplasm \- 'Starry-sky' pattern LABORATORY ABNORMALITIES \- Elevated lactate dehydrogenase \- Elevated uric acid \- Chromosomal translocations involving c-myc ( 190080 , 8q24) and the immunoglobin lambda light chain ( 147220 , 22q11.2) locus \- Chromosomal translocations involving c-myc ( 190080 , 8q24) and the immunoglobin kappa light chain ( 147200 , 2p12) locus \- Chromosomal translocations involving c-myc ( 190080 , 8q24) and the immunoglobin heavy chain ( 147100 , 14q32) locus MISCELLANEOUS \- Accounts for 30-50% of lymphomas in children \- Accounts for 1-2% of lymphomas in adults \- Three distinct clinical forms - endemic (equatorial Africa), sporadic, and immunodeficiency-associated (e.g., HIV infection) MOLECULAR BASIS \- Caused by mutation in the MYC protooncogene, bHLH transcription factor gene (MYC, 190080.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
BURKITT LYMPHOMA
|
c0006413
| 28,033 |
omim
|
https://www.omim.org/entry/113970
| 2019-09-22T16:43:54 |
{"doid": ["8584"], "mesh": ["D002051"], "omim": ["113970"], "icd-9": ["200.2"], "icd-10": ["C83.70", "C83.7"], "orphanet": ["543"]}
|
A number sign (#) is used with this entry because this form of congenital muscular dystrophy-dystroglycanopathy with mental retardation (type B3; MDDGB3) is caused by homozygous or compound heterozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1; 606822) on chromosome 1p34.
Mutation in the POMGNT1 gene can also cause a more severe congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A3; MDDGA3; 253280) and a less severe limb-girdle muscular dystrophy-dystroglycanopathy (type C3; MDDGC3; 613157).
Description
MDDGB3 is an autosomal recessive congenital muscular dystrophy with mental retardation and mild brain abnormalities (Clement et al., 2008). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (Mercuri et al., 2009).
For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (613155).
Clinical Features
Clement et al. (2008) reported a 16-year-old patient with POMGNT1-related congenital muscular dystrophy who had mental retardation, myopia, optic atrophy, and increased serum creatine kinase. Brain MRI showed ventricular dilatation, diffuse white matter changes, cerebellar cysts, and pontine hypoplasia.
Mercuri et al. (2009) identified 1 patient with POMGNT1-related congenital muscular dystrophy in a larger study of 81 patients with muscular dystrophy and evidence of a dystroglycanopathy. Although clinical details were limited, the patient had achieved walking, showed decreased alpha-dystroglycan on muscle biopsy, and had strabismus, myopia, and mental retardation. Brain MRI showed cerebellar cysts.
Molecular Genetics
In a 16-year-old patient with congenital muscular dystrophy and mental retardation, Clement et al. (2008) identified compound heterozygosity for mutations in the POMGNT1 gene (606822.0015 and 606822.0016).
In an Italian patient with congenital muscular dystrophy and mental retardation, Mercuri et al. (2009) identified a homozygous mutation in the POMGNT1 gene (R605P; 606822.0014).
INHERITANCE \- Autosomal recessive HEAD & NECK Head \- Microcephaly Eyes \- Myopia \- Optic atrophy \- Strabismus MUSCLE, SOFT TISSUES \- Muscular dystrophy \- Muscle biopsy shows decreased glycosylation of alpha-dystroglycan (DAG1, 128239 ) NEUROLOGIC Central Nervous System \- Mental retardation \- Delayed motor development \- Only walking achieved \- Ventricular dilatation \- White matter changes \- Cerebellar hypoplasia \- Cerebellar cysts \- Pontine hypoplasia LABORATORY ABNORMALITIES \- Increased serum creatine kinase MISCELLANEOUS \- Onset at birth \- Two unrelated patients have been reported MOLECULAR BASIS \- Caused by mutation in the protein O-mannose beta-1,2-N-acetylglucosaminyltransferase gene (POMGNT1, 606822.0014 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
c3150412
| 28,034 |
omim
|
https://www.omim.org/entry/613151
| 2019-09-22T15:59:30 |
{"doid": ["0050588"], "omim": ["613151"], "orphanet": ["370959"], "synonyms": ["Alternative titles", "CMD-CRB", "MUSCULAR DYSTROPHY, CONGENITAL, POMGNT1-RELATED", "CMD with cerebellar involvement"]}
|
Main article: Epilepsy
Epilepsy in animals is a group of neurological disorders characterized by seizures, caused by abnormal bursts of electrical activity in the brain. They can start and stop very abruptly and last any amount of time from a few seconds to a few minutes.[1] Canine epilepsy is often genetic but epilepsy in cats and other pets is rarer, likely because there is no hereditary component to epilepsy in these animals.[1]
## Contents
* 1 Characteristics
* 2 Handling seizures
* 3 Dogs
* 3.1 Diagnosis
* 3.2 Treatment
* 4 Cats
* 4.1 Classifications
* 4.1.1 Cancer
* 4.1.2 Vascular disease
* 4.1.3 Inflammatory/infectious
* 4.1.4 Reactive seizure disorders
* 5 See also
* 6 References
## Characteristics[edit]
Epilepsy is most commonly recognised by involuntary movements of the head and limbs, however other characteristics include salivation, lack of bodily functions and anxiety. Animals often lose consciousness and are not aware of their surroundings.[2]
## Handling seizures[edit]
Watching an animal have a seizure can be quite frightening. There is not much that can be done during a seizure except to remain calm and not leave the animal alone.[2] If your pet is having a seizure it is important to make sure they are lying down on the floor away from any water, stairs or other animals. When an animal has a seizure, do not try to grab their tongue or clear their mouth as there is a high chance you will be bitten; contrary to popular myth, neither humans nor animals can "swallow their tongue" during a seizure, so it is safest to stay well away from their mouth during one.[3] Timing seizures is also crucial. Take notes of seizures - what time they occur, how often and any other specific information which can be passed onto the vet or emergency animal clinic.[2]
## Dogs[edit]
A bottle of veterinary pharmaceutical potassium bromide oral solution used in dogs, primarily as an antiepileptic (to stop seizures).
In dogs, epilepsy is often an inherited condition. The incidence of epilepsy/seizures in the general dog population is estimated to be between 0.5% and 5.7%.[4] In certain breeds, such as the Belgian Shepherd, the incidence may be much higher.
### Diagnosis[edit]
There are three types of epilepsy in dogs: reactive, secondary, and primary.[5] Reactive epileptic seizures are caused by metabolic issues, such as low blood sugar or kidney or liver failure. Epilepsy attributed to brain tumor, stroke or other trauma is known as secondary or symptomatic epilepsy.
There is no known cause for primary or idiopathic epilepsy, which is only diagnosed by eliminating other possible causes for the seizures. Dogs with idiopathic epilepsy experience their first seizure between the ages of one and three. However, the age at diagnosis is only one factor in diagnosing canine epilepsy, as one study found cause for seizures in one-third of dogs between the ages of one and three, indicating secondary or reactive rather than primary epilepsy.[6]
A veterinarian's initial work-up for a dog presenting with a history of seizures may include a physical and neurological exam, a complete blood count, serum chemistry profile, urinalysis, bile tests, and thyroid function tests.[7] These tests verify seizures and may determine cause for reactive or secondary epilepsy. Veterinarians may also request that dog owners keep a "seizure log" documenting the timing, length, severity, and recovery of each seizure, as well as dietary or environmental changes.
### Treatment[edit]
Many antiepileptic drugs are used for the management of canine epilepsy. Oral phenobarbital, in particular, levetiracetam and imepitoin are considered to be the most effective antiepileptic drugs and usually used as ‘first line’ treatment.[8] Other anti-epileptics such as zonisamide, primidone, gabapentin, pregabalin, sodium valproate, felbamate and topiramate may also be effective and used in various combinations.[8][9] A crucial part of the treatment of pets with epilepsy is owner education to ensure compliance and successful management.[10]
## Cats[edit]
Seizures in cats have various initiating factors. Cats can have reactive, primary (idiopathic) or secondary seizures. Idiopathic seizures are not as common in cats as in dogs however a recent study conducted showed that of 91 feline seizures, 25% were suspected to have had idiopathic epilepsy.[11] In the same group of 91 cats, 50% were secondary seizures and 20% reactive.[11]
### Classifications[edit]
Idiopathic epilepsy does not have a classification due to the fact there are no known causes of these seizures, however both reactive and symptomatic secondary epilepsy can be placed into classifications.[11]
#### Cancer[edit]
Meningiomas, lymphomas and glial cell brain tumours are the most common cancers in cats and are all common causes of seizures.[11]
#### Vascular disease[edit]
Vascular disease refers to any condition that effects the flow of blood to the brain and can potentially result in seizure disorders.[11] Common vascular diseases in cats include, feline ischemic encephalopathy, polycythemia and hypertension.[11]
#### Inflammatory/infectious[edit]
Any inflammatory or infectious disease that reaches the brain can result in inducing seizures. The most common inflammatory or infectious diseases which cause seizures in cats include, feline infectious peritonitis, Toxoplasmosis and Cryptococcus.[11]
#### Reactive seizure disorders[edit]
Many diseases that occur as a result from illness in parts of the body other than the brain can cause felines to have seizures, especially in older cats. Some of the common metabolic causes of seizures in felines include, hepatic encephalopathy, renal encephalopathy, hypoglycaemia and hypothyroidism.[11]
## See also[edit]
* Canine epileptoid cramping syndrome
* Epilepsy in gerbils
## References[edit]
1. ^ a b Barlough (1995). "Epilepsy Study". Ney York: Harper Publishers. Archived from the original on 24 December 2016. Retrieved 15 May 2016.
2. ^ a b c "Companion Animal Epilepsy". NC State University. 2016. Retrieved 15 May 2016.
3. ^ "Swallowing Your Tongue and Other Epilepsy Myths". Cleveland Clinic Foundation. 2014. Retrieved 18 May 2016.
4. ^ K9web.com, Wiersma-Aylward, A. 1995. Canine Epilepsy. Retrieved August 6, 2007
5. ^ Peterson, M., "Inherited epilepsy can be devastating in dogs". essfta.org Archived 2012-07-09 at the Wayback Machine
6. ^ Podell, M; Fenner, WR; Powers, JD (1 June 1995). "Seizure classification in dogs from a nonreferral-based population". Journal of the American Veterinary Medical Association. 206 (11): 1721–8. PMID 7782244.
7. ^ The Canine Epilepsy Network, canine-epilepsy.net
8. ^ a b Charalambous, M; Brodbelt, D; Volk, HA (22 October 2014). "Treatment in canine epilepsy-a systematic review". BMC Veterinary Research. 10: 257. doi:10.1186/s12917-014-0257-9. PMC 4209066. PMID 25338624.
9. ^ Thomas, WB (January 2010). "Idiopathic epilepsy in dogs and cats". The Veterinary clinics of North America. Small animal practice. 40 (1): 161–79. doi:10.1016/j.cvsm.2009.09.004. PMID 19942062.
10. ^ De Risio, L and Platt, S. 2014. Canine and feline epilepsy: diagnosis and management. CAB International: Wallingford, UK. ISBN 9781780641096.
11. ^ a b c d e f g h Sonius, Chelsea (2010). "Feline Seizure Disorders". Retrieved 16 May 2016.
* v
* t
* e
Seizures and epilepsy
Basics
* Seizure types
* Aura (warning sign)
* Postictal state
* Epileptogenesis
* Neonatal seizure
* Epilepsy in children
Management
* Anticonvulsants
* Investigations
* Electroencephalography
* Epileptologist
Personal issues
* Epilepsy and driving
* Epilepsy and employment
Seizure types
Focal
Seizures
Simple partial
Complex partial
Gelastic seizure
Epilepsy
Temporal lobe epilepsy
Frontal lobe epilepsy
Rolandic epilepsy
Nocturnal epilepsy
Panayiotopoulos syndrome
Vertiginous epilepsy
Generalised
* Tonic–clonic
* Absence seizure
* Atonic seizure
* Automatism
* Benign familial neonatal seizures
* Lennox–Gastaut syndrome
* Myoclonic astatic epilepsy
* Epileptic spasms
Status epilepticus
* Epilepsia partialis continua
* Complex partial status epilepticus
Myoclonic epilepsy
* Progressive myoclonus epilepsy
* Dentatorubral–pallidoluysian atrophy
* Unverricht–Lundborg disease
* MERRF syndrome
* Lafora disease
* Juvenile myoclonic epilepsy
Non-epileptic seizure
* Febrile seizure
* Psychogenic non-epileptic seizure
Related disorders
* Sudden unexpected death in epilepsy
* Todd's paresis
* Landau–Kleffner syndrome
* Epilepsy in animals
Organizations
* Citizens United for Research in Epilepsy (US)
* Epilepsy Action (UK)
* Epilepsy Action Australia
* Epilepsy Foundation (US)
* Epilepsy Outlook (UK)
* Epilepsy Research UK
* Epilepsy Society (UK)
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Epilepsy in animals
|
c3824892
| 28,035 |
wikipedia
|
https://en.wikipedia.org/wiki/Epilepsy_in_animals
| 2021-01-18T18:49:53 |
{"wikidata": ["Q5382984"]}
|
Young syndrome is a condition characterized by male infertility, damaged airways in the lungs (bronchiectasis), and inflammation of the sinuses (sinusitis). Male infertility in Young syndrome is secondary to obstructive azoospermia, a condition in which sperm are produced but do not mix with the rest of the ejaculatory fluid, due to a physical obstruction in the epididymis (tube through which sperm exit the testis). This results in nonexistent levels of sperm in semen.
Young syndrome is typically diagnosed in middle-aged men who undergo evaluation for infertility. As the signs and symptoms of Young syndrome are similar to cystic fibrosis (CF), part of the diagnosis process may include ruling out CF. Although the exact cause of Young syndrome has not been identified, it is believed to either be related to childhood exposure to mercury or genetic factors. While there is no one treatment for Young syndrome, management involves treatment of sinus and lung infections. Fertility treatment may also be an option, including surgery to remove the obstruction in the epididymis (vasoepididymostomy) or assisted reproduction, such as intracytoplasmic sperm injection (ICSI).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Young syndrome
|
c0340037
| 28,036 |
gard
|
https://rarediseases.info.nih.gov/diseases/341/young-syndrome
| 2021-01-18T17:57:00 |
{"mesh": ["C536718"], "omim": ["279000"], "umls": ["C0340037"], "orphanet": ["3471"], "synonyms": ["Azoospermia obstructive and chronic sinopulmonary infections", "Azoospermia-sinopulmonary infections syndrome", "Sinusitis-infertility syndrome", "Barry Perkins Young syndrome"]}
|
Autoimmune estrogen dermatitis
SpecialtyDermatology
Autoimmune estrogen dermatitis presents as a cyclic skin disorder, that may appear eczematous, papular, bullous, or urticarial. with pruritus typically present, skin eruptions that may be chronic but which are exacerbated premenstrually or occur immediately following menses.[1]:83
## See also[edit]
* Skin lesion
## References[edit]
1. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
This cutaneous condition article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Autoimmune estrogen dermatitis
|
None
| 28,037 |
wikipedia
|
https://en.wikipedia.org/wiki/Autoimmune_estrogen_dermatitis
| 2021-01-18T19:05:41 |
{"wikidata": ["Q4826336"]}
|
A number sign (#) is used with this entry because this form of 46,XY sex reversal is caused by heterozygous mutation in the NR5A1 gene (184757) on chromosome 9q33.
For a discussion of genetic heterogeneity of 46,XY sex reversal, see SRXY1 (400044).
Nomenclature
As a result of discussions at the International Consensus Conference on Intersex, Lee et al. (2006) proposed the term 'disorder(s) of sex development' (DSD) to replace the previously used terms 'pseudohermaphroditism,' 'intersex,' and 'sex reversal.'
Clinical Features
Achermann et al. (1999) described a phenotypically female patient who presented with primary adrenal failure in the first 2 weeks of life. Her karyotype was XY, and a presumptive diagnosis of congenital lipoid adrenal hyperplasia (201710) was made. At age 10 years, her hormonal status was examined further before the induction of puberty. Pituitary gonadotropins responded to gonadotropin-releasing hormone (152760) stimulation, but there was no testosterone response after stimulation with human chorionic gonadotropin (see 118860). Notably, normal mullerian structures were found at laparotomy, and streak-like gonads containing poorly differentiated tubules and connective tissue were removed. The patient had complete gonadal dysgenesis, including normal female external genitalia and retention of the uterus. This contrasts with disorders of steroid biosynthesis, in which no uterus is present. Transdermal 17-beta-estradiol gel induced normal breast development. Her uterus grew and regular menstruation occurred after the introduction of cyclical progestogen.
Inheritance
Blecher and Erickson (2007) reviewed knowledge of sexual development and proposed a new paradigm, namely, that sexual dimorphism precedes gonadal development, in a so-called 'pregonadal stage.' Noting that absence of testicular hormones does not produce a normal female phenotype, they stated that contrary to the classic paradigm, female development does not occur by default. Blecher and Erickson (2007) suggested that proximate gonad-determining genes are probably on the autosomes, with indirect and complex interactions between these and the primary factors on sex chromosomes.
Molecular Genetics
In a patient with 46,XY complete gonadal dysgenesis, Achermann et al. (1999) identified heterozygosity for a 2-bp mutation in exon 3 of the SF1 (NR5A1) gene (184757.0001), which encodes part of the DNA-binding domain. The finding provided evidence that SF1 regulates the regression of mullerian structures in humans, either through direct actions on AMH (600957) or secondary to an abnormality of Sertoli cell development or function.
Lin et al. (2006) studied the prevalence of DAX1 (300473) and SF1 mutations in 117 children and adults with primary adrenal failure of unknown etiology (i.e., not caused by congenital adrenal hyperplasia, adrenoleukodystrophy, or autoimmune disease). SF1 mutations causing adrenal failure were found in only 2 patients with 46,XY gonadal dysgenesis. Lin et al. (2006) concluded that SF1 mutations causing adrenal failure in humans are rare and are more likely to be associated with significant underandrogenization and gonadal dysfunction in 46,XY individuals.
Lin et al. (2007) analyzed the NR5A1 gene in 30 patients with 46,XY disorders of sex development and identified heterozygous missense mutations in 4 patients (184757.0007-184757.0010, respectively). Three of the mutations showed loss of function in adrenal, Leydig, and Sertoli cells lines, but an L437Q ligand-binding domain mutant identified in 1 of the patients (184757.0010) retained partial activity in these cell systems, consistent with the milder clinical phenotype of that patient (hypospadias, male gender assignment).
Kohler et al. (2008) analyzed the NR5A1 gene in 27 German 46,XY patients with severe underandrogenization without adrenal insufficiency and identified heterozygous mutations in 5 (18.5%) patients; the authors concluded that NR5A1 mutations are a relatively frequent cause of 46,XY disorders of sex development.
Lourenco et al. (2009) sequenced the NR5A1 gene in 4 families with histories of both 46,XY gonadal dysgenesis and 46,XX primary ovarian insufficiency and in 25 subjects with sporadic ovarian insufficiency. They identified mutations in patients with premature ovarian failure (POF7; 612964) as well as in patients with 46,XY disorders (see 184757.0011-184757.0016). None of the affected subjects had clinical signs of adrenal insufficiency.
By microarray analysis in a mother with premature ovarian failure and her 46,XY son with partial gonadal dysgenesis, Harrison et al. (2013) identified heterozygosity for a 0.232-Mb microdeletion of chromosome band 9q33.3, involving NR5A1 and 4 other genes. There was no family history of disorders of sex development or POF, and the mutation appeared to have arisen de novo in the mother. The authors stated that this was the first NR5A1 microdeletion transmitted in a pedigree with both SRXY and POF, and the first report of an NR5A1 copy number variation (CNV) associated with POF. To assess the frequency of NR5A1 CNVs in DSD states, Harrison et al. (2013) used MPLA to screen 11 patients with 46,XY DSD phenotypes, 21 patients with proximal hypospadias with or without cryptorchidism, and 35 patients with POF, but did not identify any more NR5A1 CNVs.
Animal Model
To examine the role of the Ftzf1 in intact mice, Luo et al. (1994) used targeted disruption of the Ftzf1 gene. Despite normal survival in utero, all Ftzf1-null animals died by postnatal day 8; these animals lacked adrenal glands and gonads and were severely deficient in corticosterone, supporting adrenocortical insufficiency as the probable cause of death. Male and female Ftzf1-null mice had female internal genitalia, despite complete gonadal agenesis. These studies established that the Ftzf1 gene is essential for sexual differentiation and formation of the primary steroidogenic tissues. Normal male sex differentiation requires that Sertoli cells in the embryonic testes produce mullerian-inhibiting substance (AMH; 600957), a TGF-beta-like hormone that causes mullerian duct regression.
INHERITANCE \- Autosomal dominant CHEST Breasts \- Small breasts (in some patients) GENITOURINARY External Genitalia (Male) \- Small phallus \- Penoscrotal hypospadias \- Ambiguous external genitalia (in some patients) External Genitalia (Female) \- Female-appearing genitalia (in some patients) \- Hypertrophic clitoris (in some patients) \- Labial rugosity (in some patients) \- Labioscrotal folds (in some patients) Internal Genitalia (Male) \- Labial or labioscrotal testes (in some patients) \- High scrotal testes (in some patients) \- Inguinal testes (in some patients) \- Pelvic testes (in some patients) \- Testicular tissue on gonadal histology (in some patients) \- Fibrous tissue on gonadal histology (in some patients) \- Germ cells reduced or absent (in some patients) Internal Genitalia (Female) \- Small uterus (in some patients) ENDOCRINE FEATURES \- Low testosterone \- Elevated luteinizing hormone (LH) \- Elevated follicle-stimulating hormone (FSH) MISCELLANEOUS \- Patients are 46,XY individuals who may be phenotypically female \- Familial cases may have affected 46,XX family members who exhibit premature ovarian failure (see POF7, 612964 ) MOLECULAR BASIS \- Caused by mutation in the nuclear receptor subfamily 5, group A, member-1 gene (NR5A1, 184757.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
46,XY SEX REVERSAL 3
|
c2936694
| 28,038 |
omim
|
https://www.omim.org/entry/612965
| 2019-09-22T16:00:10 |
{"doid": ["14448"], "mesh": ["D006061"], "omim": ["612965"], "orphanet": ["242", "251510"], "synonyms": ["Alternative titles", "46,XY SEX REVERSAL, PARTIAL OR COMPLETE, NR5A1-RELATED", "46,XY GONADAL DYSGENESIS, PARTIAL OR COMPLETE, WITH OR WITHOUT ADRENAL FAILURE", "SEX REVERSAL, XY, WITH OR WITHOUT ADRENAL FAILURE", "DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED"]}
|
Sorsby and Williams (1960) observed a family with multiple cases of retinal aplasia in which inheritance was autosomal dominant. 'Retinal aplasia' is the British term for what is called 'congenital amaurosis' on the continent. Much genetic heterogeneity exists as evidenced by the demonstration of both autosomal dominant and autosomal recessive forms. This disorder, which might be called an autosomal dominant form of Leber amaurosis congenita, must be very rare. Heckenlively (1988) reported a 6-generation family with a severe progressive retinal degeneration beginning in infancy.
Eyes \- Retinal aplasia \- Congenital amaurosis Inheritance \- Autosomal dominant form \- genetic heterogeneity ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
RETINAL APLASIA
|
c0339527
| 28,039 |
omim
|
https://www.omim.org/entry/179900
| 2019-09-22T16:35:13 |
{"mesh": ["D057130"], "omim": ["179900"], "orphanet": ["65"], "synonyms": ["Alternative titles", "AMAUROSIS CONGENITA"]}
|
Cone dystrophy with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Cone dystrophy with supernormal rod response
|
c1835897
| 28,040 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=209932
| 2021-01-23T17:12:20 |
{"gard": ["10649"], "mesh": ["C563678"], "omim": ["610356"], "icd-10": ["H35.5"], "synonyms": ["Cone dystrophy with supernormal rod ERG", "Cone dystrophy with supernormal rod electroretinogram", "Cone dystrophy with supernormal scotopic electroretinogram"]}
|
A number sign (#) is used with this entry because susceptibility to mild malaria is associated with polymorphism in the NCR3 gene (611550) on chromosome 6p21.
For general information on malaria and the influence of genetic factors on malaria susceptibility, progression, severity, and resistance, see 611162.
Mapping
Tumor necrosis factor-alpha (TNF; 191160) is thought to be a critical mediator of malaria fever, and mild malaria was previously reported to be linked to the MHC region containing the TNF gene (Jepson et al., 1997). Flori et al. (2003) analyzed 34 families from Burkina Faso to test for linkage between polymorphisms within the MHC region and mild malaria. Two-point analysis indicated linkage of mild malaria to TNFd (lod = 3.27), a highly polymorphic marker in the MHC region. Multipoint analysis also indicated evidence for linkage of mild malaria to the MHC region, with a peak close to TNF (lod = 3.86). The authors proposed that genetic variation within TNF may influence susceptibility to mild malaria, but TNF alleles associated with resistance to severe malaria, including the TNF-308 (191160.0004) polymorphism, are unlikely to explain linkage of mild malaria to the MHC region.
Molecular Genetics
By genotyping 10 NCR3 SNPs in a malaria-endemic Burkina Faso population, Delahaye et al. (2007) identified an association between mild malaria and the -412G-C (611550.0001; rs2736191) SNP in the NCR3 promoter. Carriers with the -412C variant had more frequent mild malaria attacks than -412GG individuals. NCR3 -412C and a haplotype containing -412C were significantly associated with increased risk of mild malaria, and the association was independent of TNF. Delahaye et al. (2007) concluded that at least 2 centrally located MHC region genes are involved in genetic control of malaria. They proposed that genetic variation in NK-cell receptors may account for the heterogeneity of NK-cell reactivity to P. falciparum-infected erythrocytes.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
MALARIA, MILD, SUSCEPTIBILITY TO
|
c1836721
| 28,041 |
omim
|
https://www.omim.org/entry/609148
| 2019-09-22T16:06:36 |
{"omim": ["609148"], "synonyms": ["Alternative titles", "MALS"]}
|
Sialic acid storage disease is an inherited disorder that primarily affects the nervous system. People with sialic acid storage disease have signs and symptoms that may vary widely in severity. This disorder is generally classified into one of three forms: infantile free sialic acid storage disease, Salla disease, and intermediate severe Salla disease.
Infantile free sialic acid storage disease (ISSD) is the most severe form of this disorder. Babies with this condition have severe developmental delay, weak muscle tone (hypotonia), and failure to gain weight and grow at the expected rate (failure to thrive). They may have unusual facial features that are often described as "coarse," seizures, bone malformations, an enlarged liver and spleen (hepatosplenomegaly), and an enlarged heart (cardiomegaly). The abdomen may be swollen due to the enlarged organs and an abnormal buildup of fluid in the abdominal cavity (ascites). Affected infants may have a condition called hydrops fetalis in which excess fluid accumulates in the body before birth. Children with this severe form of the condition usually live only into early childhood.
Salla disease is a less severe form of sialic acid storage disease. Babies with Salla disease usually begin exhibiting hypotonia during the first year of life and go on to experience progressive neurological problems. Signs and symptoms of Salla disease include intellectual disability and developmental delay, seizures, problems with movement and balance (ataxia), abnormal tensing of the muscles (spasticity), and involuntary slow, sinuous movements of the limbs (athetosis). Individuals with Salla disease usually survive into adulthood.
People with intermediate severe Salla disease have signs and symptoms that fall between those of ISSD and Salla disease in severity.
## Frequency
Sialic acid storage disease is a very rare disorder. ISSD has been identified in only a few dozen infants worldwide. Salla disease occurs mainly in Finland and Sweden and has been reported in approximately 150 people. A few individuals have been identified as having intermediate severe Salla disease.
## Causes
Mutations in the SLC17A5 gene cause all forms of sialic acid storage disease. This gene provides instructions for producing a protein called sialin that is located mainly on the membranes of lysosomes, compartments in the cell that digest and recycle materials. Sialin moves a molecule called free sialic acid, which is produced when certain proteins and fats are broken down, out of the lysosomes to other parts of the cell. Free sialic acid means that the sialic acid is not attached (bound) to other molecules. Researchers believe that sialin may also have other functions in brain cells, in addition to those associated with the lysosomes, but these additional functions are not well understood.
Approximately 20 mutations that cause sialic acid storage disease have been identified in the SLC17A5 gene. Some of these mutations result in sialin that does not function normally; others prevent sialin from being produced. In a few cases, sialin is produced but not routed properly to the lysosomal membrane.
SLC17A5 gene mutations that reduce or eliminate sialin activity result in a buildup of free sialic acid in the lysosomes. It is not known how this buildup, or the disruption of other possible functions of sialin in the brain, causes the specific signs and symptoms of sialic acid storage disease.
### Learn more about the gene associated with Sialic acid storage disease
* SLC17A5
## Inheritance Pattern
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Sialic acid storage disease
|
c2930923
| 28,042 |
medlineplus
|
https://medlineplus.gov/genetics/condition/sialic-acid-storage-disease/
| 2021-01-27T08:25:22 |
{"gard": ["10870"], "mesh": ["C535525"], "omim": ["269920", "604369"], "synonyms": []}
|
Baker's itch is a cutaneous reaction caused by bites of Acarus siro, the flour mite.[1][2]
## See also[edit]
* List of mites associated with cutaneous reactions
* List of cutaneous conditions
## References[edit]
1. ^ Robert L. Rietschel; Joseph F. Fowler Jr. (2008). Fisher's contact dermatitis (6th ed.). Hamilton: BC Decker Inc. p. 428. ISBN 9781550093780.
2. ^ Hill, Dennis S. (2003). Pests of Stored Foodstuffs and Their Control. Dordrecht: Kluwer Academic Publishers. p. 129. ISBN 9780306481314.
* v
* t
* e
Mite-borne diseases and infestations
Infestations
* Acariasis
* Baker's itch
* Cheyletiellosis
* Demodicosis
* Feather pillow dermatitis
* Gamasoidosis
* Grain itch
* Grocer's itch
* Rodent mite dermatitis
* Scabies
* Trombiculosis
Other diseases
* House dust mite allergy
* Oral mite anaphylaxis
* List of mites associated with cutaneous reactions
Species and bites
Trombidiformes
* Demodex brevis / Demodex folliculorum
* demodicosis
* Demodex mite bite
* Trombicula
* trombiculosis
* Pyemotes herfsi
* Cheyletiella (cheyletiellosis)
* Leptotrombidium deliense
Sarcoptiformes
* Sarcoptes scabiei
* scabies
Mesostigmata
* Dermanyssus gallinae
* gamasoidosis
* Liponyssoides sanguineus
* rickettsialpox
Other
* House dust mite
This dermatology article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Baker's itch
|
c0344068
| 28,043 |
wikipedia
|
https://en.wikipedia.org/wiki/Baker%27s_itch
| 2021-01-18T18:50:09 |
{"umls": ["C0344068"], "wikidata": ["Q4849083"]}
|
Cysticercosis is an infection caused by the pork tapeworm, Taenia solium. The condition develops when tapeworm eggs, which can be found in contaminated food, enter the body and form cysticeri (cysts). In most cases, the worms stay in the muscles and do not cause symptoms. However, symptoms may be present when the infection is found in the brain, eyes, heart or spine. Although rare in the United States, cysticercosis is common in many developing countries. Treatment may include medications to kill the parasites and powerful anti-inflammatory medications (steroids) to reduce swelling. In severe cases, surgery may be needed to remove the infected area.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Cysticercosis
|
c0010678
| 28,044 |
gard
|
https://rarediseases.info.nih.gov/diseases/8194/cysticercosis
| 2021-01-18T18:00:59 |
{"mesh": ["D003551"], "synonyms": ["Taeniasis", "Neurocysticercosis", "Submacular cysticercosis"]}
|
A rare, acquired, interstitial lung disease, characterized by alveolar surfactant accumulation, cough, progressive dyspnea and respiratory insufficiency. The disease may be secondary to hematological disorder, toxic inhalation, and infection or may occur within the setting of immunosuppression after transplantation.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Secondary pulmonary alveolar proteinosis
|
c3873302
| 28,045 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=420259
| 2021-01-23T17:17:24 |
{"icd-10": ["J84.0"], "synonyms": ["Secondary PAP"]}
|
Ring chromosome 11 syndrome is an autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and café-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Ring chromosome 11 syndrome
|
c0265444
| 28,046 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=96175
| 2021-01-23T18:04:19 |
{"gard": ["10846"], "umls": ["C0265444"], "icd-10": ["Q93.2"], "synonyms": ["RC11", "Ring 11", "Ring chromosome 11", "r(11) syndrome"]}
|
Hyperlysinemia is an inherited condition characterized by elevated blood levels of the amino acid lysine, a building block of most proteins. Hyperlysinemia is caused by the shortage (deficiency) of the enzyme that breaks down lysine. Hyperlysinemia typically causes no health problems, and most people with elevated lysine levels are unaware that they have this condition. Rarely, people with hyperlysinemia have intellectual disability or behavioral problems. It is not clear whether these problems are due to hyperlysinemia or another cause.
## Frequency
The incidence of hyperlysinemia is unknown.
## Causes
Mutations in the AASS gene cause hyperlysinemia. The AASS gene provides instructions for making an enzyme called aminoadipic semialdehyde synthase. This enzyme performs two functions in the breakdown of lysine. First, the enzyme breaks down lysine to a molecule called saccharopine. It then breaks down saccharopine to a molecule called alpha-aminoadipate semialdehyde.
Mutations in the AASS gene that impair the breakdown of lysine result in elevated levels of lysine in the blood and urine. These increased levels of lysine do not appear to have any negative effects on the body.
When mutations in the AASS gene impair the breakdown of saccharopine, this molecule builds up in blood and urine. This buildup is sometimes referred to as saccharopinuria, which is considered to be a variant of hyperlysinemia. It is unclear if saccharopinuria causes any symptoms.
### Learn more about the gene associated with Hyperlysinemia
* AASS
## Inheritance Pattern
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Hyperlysinemia
|
c0543533
| 28,047 |
medlineplus
|
https://medlineplus.gov/genetics/condition/hyperlysinemia/
| 2021-01-27T08:25:16 |
{"gard": ["2828", "314"], "omim": ["238700", "268700"], "synonyms": []}
|
A rare, non-malformative vulvovaginal disease characterized by a combination of erosive or desquamative lichen planus (LP) of vulval, vaginal and gingival mucosae, with a high propensity for scarring and stricture formation. Additional sites of involvement are frequently observed (in particular, tongue, buccal mucosae, skin and perianal LP). Patients may be asymptomatic or, more commonly, present with pain, burning, discomfort and bleeding, dyspareunia, and seropurulent vaginal discharge.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Vulvovaginal gingival syndrome
|
c3873472
| 28,048 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=83453
| 2021-01-23T19:10:53 |
{"icd-10": ["L43.8"]}
|
## Clinical Features
McKusick and Cross (1966) described an Amish infant with 'Swiss agammaglobulinemia' (severe combined immunodeficiency) and a form of skeletal dysplasia similar to achondroplasia who died in early infancy.
Davis (1967) stated that at least 5 such cases were known to him. The case he personally described was a female infant whose parents were Jewish but not known to be related. The child died at 2 months of age.
Gatti et al. (1969) described affected brother and sister who also had ectodermal dysplasia. They suggested that other cases had been reported by McKusick and Cross (1966), Davis (1966), Fulginiti et al. (1967), and Alexander and Dunbar (1968). Say et al. (1972) reported 2 affected Turkish sibs. The skeletal dysplasia in these cases may be best classified as a metaphyseal chondrodysplasia.
McKusick (1972) described a family studied by Mathies (1972) in which the skeletal changes were typical of cartilage-hair hypoplasia (250250) including 'metaphyseal dysostosis' by x-ray, excessively long fibulas, Harrison grooves, etc. The hair was light in color and required cutting less often than one would expect but its caliber appeared normal. All 3 children were affected. The oldest had secondary vaccinia after routine vaccination and was reported by Fulginiti et al. (1968)--see their case M.N., p. 135. Main laboratory findings are lymphopenia, agammaglobulinemia, and, by x-ray, thymic hypoplasia. These findings and the clinical course are similar to those in severe combined immunodeficiency (see 601457). McKusick (1972) noted that some patients with severe combined immunodeficiency and short-limb skeletal dysplasia had been found to have deficiency of adenosine deaminase (see 102700).
MacDermot et al. (1991) reported 2 unrelated patients with severe combined immunodeficiency and early lethal short-limb skeletal dysplasia. These 2 patients did not have determinations of adenosine deaminase, nor did the cases of severe skeletal dysplasia in association with SCID previously reported. MacDermot et al. (1991) noted that the metaphyseal abnormalities have been mild in cases of SCID with ADA deficiency.
Animal Model
Mandi et al. (1971) found a profound disturbance in endochondral ossification in albino rats thymectomized 36 to 48 hours after birth. Other manifestations of runting were present.
INHERITANCE \- Autosomal recessive GROWTH Height \- Short-limb dysplasia CHEST External Features \- Harrison grooves SKELETAL \- Metaphyseal chondrodysplasia Limbs \- Long fibulae HEMATOLOGY \- Lymphopenia IMMUNOLOGY \- Agammaglobulinemia \- Thymic hypoplasia MISCELLANEOUS \- Early lethal ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
SHORT-LIMB SKELETAL DYSPLASIA WITH SEVERE COMBINED IMMUNODEFICIENCY
|
c2931087
| 28,049 |
omim
|
https://www.omim.org/entry/200900
| 2019-09-22T16:31:39 |
{"mesh": ["C536020"], "omim": ["200900"], "orphanet": ["935"], "synonyms": ["Alternative titles", "SLSD WITH SCID", "ACHONDROPLASIA, SO-CALLED, AND SEVERE COMBINED IMMUNODEFICIENCY"]}
|
Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term).
## Epidemiology
Prevalence is unknown. Annual incidence at birth of glycogenosis due to G6P deficiency is around 1/100,000. Type b is the less frequent type, affecting about 20% of patients.
## Clinical description
Clinical presentation is similar to that of glycogenosis due to G6P deficiency type a (see this term). In addition, in type b, neutropenia, and neutrophil dysfunction are responsible for tendency towards infections, relapsing aphthous gingivostomatitis, and inflammatory bowel disease.
## Etiology
The disease is due to a dysfunction in the G6P system, a key step in glycemia regulation. Type b is due to mutations in the SLC37A4 gene (11q23), which cause a deficit of the ubiquitously expressed G6P transporter, or G6P translocase (G6PT). Many mutations have been identified, illustrating the allelic heterogeneity of the condition.
## Genetic counseling
Transmission is autosomal recessive.
## Management and treatment
Management is similar in both types of glycogenosis due to G6P deficiency (see this term). However, in type b, periodic antibiotic therapy may be needed, and, under careful monitoring, granulocyte colony-stimulating factor (G-CSF or GCSF) enables correction of neutropenia with reduction of infections and inflammatory bowel disease.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
|
c0268146
| 28,050 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79259
| 2021-01-23T19:04:27 |
{"gard": ["2515"], "mesh": ["C562594"], "omim": ["232220", "232240"], "umls": ["C0268146"], "icd-10": ["E74.0"], "synonyms": ["G6P deficiency type Ib", "G6P translocase deficiency", "G6PT deficiency", "GSD due to G6P deficiency type 1b", "GSD due to G6P deficiency type Ib", "GSD due to G6PT deficiency", "GSD type 1 non a", "GSD type 1b", "GSD type Ib", "GSDIb", "Glycogen storage disease due to G6P deficiency type Ib", "Glycogen storage disease type 1b", "Glycogen storage disease type Ib", "Glycogenosis due to glucose-6-phosphatase deficiency type 1b", "Glycogenosis due to glucose-6-phosphatase transport defect type Ib", "Glycogenosis type 1b", "Glycogenosis type Ib"]}
|
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) affects many parts of the body, particularly the brain and nervous system (encephalo-) and muscles (myopathy). Symptoms typically begin in childhood and may include muscle weakness and pain, recurrent headaches, loss of appetite, vomiting, and seizures. Most affected individuals experience stroke-like episodes beginning before age 40. People with MELAS can also have a buildup of lactic acid in their bodies that can lead to vomiting, abdominal pain, fatigue, muscle weakness, and difficulty breathing. The genes associated with MELAS are located in mitochondrial DNA and therefore follow a maternal inheritance pattern (also called mitochondrial inheritance). MELAS can be inherited from the mother only, because only females pass mitochondrial DNA to their children. In some cases, MELAS results from a new mutation that was not inherited from a person's mother.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
|
c0162671
| 28,051 |
gard
|
https://rarediseases.info.nih.gov/diseases/7009/mitochondrial-encephalomyopathy-lactic-acidosis-and-stroke-like-episodes
| 2021-01-18T17:59:02 |
{"mesh": ["D017241"], "omim": ["540000"], "orphanet": ["550"], "synonyms": ["MELAS", "MELAS syndrome"]}
|
## Clinical Features
Mousa et al. (1986) described a syndrome of spastic ataxia in association with congenital cataracts, macular corneal dystrophy, and nonaxial myopia in an inbred Bedouin family. Somatic and mental development was normal. Mousa et al. (1986) concluded that this disorder is different from the disorder described by Der Kaloustian et al. (1985); see 271310. They noted that the corneal dystrophy was stromal with deposition of mucoid material in their family, whereas in the family of Der Kaloustian et al. (1985) it was thought to be epithelial in nature; furthermore, mental retardation was present in the cases of Der Kaloustian et al. (1985). From examination of the pedigree presented by Mousa et al. (1986), it is by no means clear that they are dealing with more than one recessively inherited disorder. Indeed, the proband in this family (referred to by Mousa et al. (1986) as the 'marker case') had Bartter syndrome (see 241200), which brought the patient to clinical attention.
INHERITANCE \- Autosomal recessive HEAD & NECK Eyes \- Congenital cataracts \- Macular corneal dystrophy \- Nonaxial myopia NEUROLOGIC Central Nervous System \- Spastic ataxia \- Spinocerebellar degeneration ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
SPINOCEREBELLAR DEGENERATION WITH MACULAR CORNEAL DYSTROPHY, CONGENITAL CATARACTS, AND MYOPIA
|
c1849085
| 28,052 |
omim
|
https://www.omim.org/entry/271320
| 2019-09-22T16:22:04 |
{"mesh": ["C536989"], "omim": ["271320"], "orphanet": ["2572"], "synonyms": ["Alternative titles", "BEDOUIN SPASTIC ATAXIA SYNDROME"]}
|
Cone dystrophy is a general term for a group of rare eye disorders that affect the cone cells of the retina. Cone cells allow a person to see color and fine detail, and they work best in bright light. The cone dystrophies can cause a variety of symptoms such as decreased visual clarity when looking straight ahead, a reduced ability to see colors, and an increased sensitivity to light. There are two main subtypes of cone dystrophy, called stationary cone dystrophy and progressive cone dystrophy. The age when symptoms begin, the type and severity of symptoms, and the progression of symptoms are all very different between individuals, even between people with the same type of cone dystrophy. Mutations in many genes have been found to cause cone dystrophy, and the condition can be inherited in an autosomal dominant, autosomal recessive, or x-linked manner.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Cone dystrophy
|
c0271092
| 28,053 |
gard
|
https://rarediseases.info.nih.gov/diseases/11897/cone-dystrophy
| 2021-01-18T18:01:12 |
{"orphanet": ["1871"], "synonyms": []}
|
A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).
## Epidemiology
Worldwide prevalence is estimated at 1/100,000.
## Clinical description
Onset occurs early in life, usually in the first two decades, with myotonia potentially affecting every muscle after contraction, most frequently lower limb and hand muscles. Myotonia usually improves with exercise (e.g. after warm-up). Myotonia congenita may be inherited as an autosomal dominant (Thomsen disease) or recessive (Becker's disease) inheritance, with a more severe and earlier phenotype in recessively inherited disease.
## Etiology
Disease is caused by loss of function mutations in the gene encoding the chloride channel, CLCN1 (7q34), that plays a role in muscle cell repolarization.
## Diagnostic methods
The clinical diagnosis can easily be confirmed by electromyography (EMG), which reveals myotonic discharges in association with hyperexcitation of the muscle fiber membrane. EMG testing under exercise and cold stress allows detailed characterization of the myotonia and helps orientate the molecular diagnosis. Identification of mutations in the chloride channel gene can be considered as diagnostic.
## Differential diagnosis
Steinert myotonic dystrophy, proximal myotonic myopathy and sodium channel channelopathies should be always considered in the differential diagnosis. Steinert myotonic dystrophy and proximal myotonic myopathy represent the most relevant differential diagnosis; these diseases present with fixed muscle weakness and wasting, and multisystem involvement, which are usually not associated to Thomsen and Becker disease, and occasionally may present with only myotonia. In addition, some degree of weakness may be observed in Thomsen and Becker disease, especially in later disease stages. Sodium muscle channelopathies may present with myotonia, which may be very similar to that reported in Thomsen and Becker disease or characterized by worsening with exercise, the so-called ''paradoxical myotonia'' (paramyotonia congenita).
## Genetic counseling
The mode of transmission may be autosomal dominant (Thomsen myotonia) or autosomal recessive (Becker myotonia). Although some clinical and EMG clues may help distinguish Thomsen from Becker disease, genetic counselling should be proposed and the results of the molecular analysis should be interpreted with care as the same mutations have been associated with both dominant and recessive modes of transmission depending on the family studied.
## Management and treatment
Treatment revolves around sodium channel blocking agents such as mexiletine hydrochloride (indication approved in Europe), carbamazepine, phenytoin, ranolazine or lamotrigine.
## Prognosis
Myotonia congenital prognosis is relatively good, with normal life expectancy. Becker disease is considered more severe than Thomsen disease.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Thomsen and Becker disease
|
c0027127
| 28,054 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=614
| 2021-01-23T17:38:15 |
{"mesh": ["D009224"], "omim": ["160800", "255700"], "umls": ["C0027127", "C2936781"], "icd-10": ["G71.1"], "synonyms": ["Myotonia congenita"]}
|
Anaplastic carcinoma is a general term for a malignant neoplasm arising from the uncontrolled proliferation of transformed cells of epithelial origin, or showing some epithelial characteristics, but that reveal no cytological or architectural features associated with more differentiated tumors, such as the glandular formation or special cellular junctions that are typical of adenocarcinoma and squamous cell carcinoma, respectively.
Specific types include:
* anaplastic astrocytoma
* anaplastic large-cell lymphoma
* anaplastic meningioma
* anaplastic thyroid cancer
## References[edit]
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Anaplastic carcinoma
|
c0205698
| 28,055 |
wikipedia
|
https://en.wikipedia.org/wiki/Anaplastic_carcinoma
| 2021-01-18T18:34:45 |
{"mesh": ["D002277"], "umls": ["C0205698"], "wikidata": ["Q4751574"]}
|
A rare neurologic disease characterized by excessive daytime sleepiness associated with uncontrollable sleep urges and cataplexy (sudden loss of muscle tone while awake, often triggered by pleasant emotions).
## Epidemiology
Narcolepsy type 1 prevalence is estimated between 1/2,000 and 1/5,000.
## Clinical description
The age of onset varies between 10 and 30 years old and symptoms are lifelong. The average time between the age of appearance of the symptoms and the diagnosis is still very long, 10 years. Other, non specific, clinical signs include hypnagogic hallucinations, sleep paralysis, disturbed nocturnal sleep, and weight gain, especially in children.
## Etiology
The disease is due to loss or impairment of the orexin/hypocretin neurons of the lateral hypothalamus that results in decreased hypocretin-1 levels in the cerebrospinal fluid. An autoimmune origin for the disease is highly suspected, particularly environmental factors interacting with susceptibility genes (more than 98% of the patients carry the HLA-DQB1*0602 allele); however, this is unproven.
## Diagnostic methods
Definitive diagnosis requires the presence of clinical symptoms, characteristic polysomnography findings and/or low hypocretin-1 levels in cerebral spinal fluid. Nocturnal and daytime polysomnography demonstrate an average sleep latency of under eight minutes with at least two sleep onset rapid eye movement periods (SOREMP) on multiple sleep latency tests. The presence of low hypocretin-1 levels (<110 pg/ml) in the cerebrospinal fluid can confirm the diagnosis with an excellent sensibility and specificity.
## Differential diagnosis
Cataplexy must be typical to be confident with the diagnosis. In absence of typical cataplexy, other causes of sleepiness must be considered, such as chronic insufficient sleep, idiopathic hypersomnia or narcolepsy without cataplexy, now called narcolepsy type 2.
## Genetic counseling
Rare familial cases have been reported (<2%); however the mode of inheritance is unclear.
## Management and treatment
Treatment is nowadays only symptomatic, as the loss of orexin neurons is irreversible. It comprises stimulants (modafinil, methylphenidate, amphetamine, pitolisant, solriamfetol), anticataplectic drugs (antidepressants) or sodium oxybate. First-line treatment of diurnal sleepiness is often with modafinil but it can be also with pitolisant or sodium oxybate. Second-line treatments are methylphenidate, solriamfetol or amphetamines. Sodium oxybate is efficient for sleepiness, cataplexy and disturbed nocturnal sleep. A good sleep hygiene is always recommended, with scheduled short naps, and regular sleep habits.
## Prognosis
Narcolepsy can severely disable scholarly and professional performances. The evolution of the disease is often stable with a frequent improvement of sleepiness and cataplexy, but with age there is an aggravation of the poor quality of night sleep.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Narcolepsy type 1
|
c0027404
| 28,056 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2073
| 2021-01-23T18:55:06 |
{"gard": ["7162"], "mesh": ["D009290"], "omim": ["161400", "605841", "609039", "612417", "612851", "614223", "614250"], "umls": ["C0027404", "C0751362"], "icd-10": ["G47.4"], "synonyms": ["Gélineau disease", "Narcolepsy-cataplexy"]}
|
Mevalonate kinase deficiency
Other namesMevalonic aciduria[1] and Hyper immunoglobin D syndrome (HIDS)
A patient with mevalonate kinase deficiency at the age of 21 months, displaying characteristic craniofacial features
SpecialtyHematology, neurology, immunology, medical genetics, endocrinology
Mevalonic acid
Mevalonate kinase deficiency (MKD), is an autosomal recessive [2] metabolic disorder that disrupts the biosynthesis of cholesterol and isoprenoids.[3]
It is characterized by an elevated level of immunoglobin D in the blood. Mevalonate kinase (MVK) is an enzyme involved in biosynthesis of cholesterols and isoprenoids and is necessary for the conversion of mevalonate to mevalonate-5-phosphate in the presence of Mg2+. MKD is due to a mutation in the gene that encodes mevalonate kinase which results in a reduced or deficient activity of this enzyme. Because of this deficiency, mevalonic acid can build up in the body with high levels found in the urine. The severity of MKD depends on the level of this deficiency with hyperimmunoglobulinemia D syndrome (first described as HIDS in 1984) being less severe, but more common, and mevalonic aciduria (MVA); a more severe, but rarer form.
## Contents
* 1 Genetics
* 1.1 Immunoglobin D
* 2 Hyper-IgD syndrome
* 2.1 Signs and symptoms
* 2.2 Cause
* 2.3 Pathophysiology
* 3 Diagnosis
* 4 Treatment
* 4.1 Treatment for HIDS
* 5 Epidemiology
* 6 Additional images
* 7 See also
* 8 References
* 9 External links
## Genetics[edit]
Mevalonate kinase deficiency is inherited in an autosomal recessive manner, meaning that a child must inherit a defective copy of the gene from both parents to be affected.[2] It is an example of a loss-of-function mutation. The gene which codes for mevalonate kinase consists of 10 exons at locus 12q14.[4] About 63 pathological sequence variations in the gene have been characterized.[citation needed] The most common of these are V377I, I268T, H20P/N and P167L, present in 70% of affected individuals.[4]
### Immunoglobin D[edit]
Immunoglobulin D (IgD) is a protein produced by a certain type of white blood cells. There are five classes of Immunoglobin like IgG, IgA and IgM, IgE and IgD. They play an important role in the immune system. The function of IgD is still unclear.
The biosynthesis of isoprenoids
There is a relationship between MKD and the interleukin 1beta (IL-Iβ). There is an increased IL-1β secretion and mevalonate kinase deficiency in MKD is most likely mediated by defective protein prenylation (Prenylation refers to addition of hydrophobic residues to proteins) ] and non-sterol isoprenoids, such as farnesyl pyrophosphate (FPP) or geranylgeranyl pyrophosphate (GGPP) are coupled to a target protein, which affects the activity and the cellular location. In a human monocytic MKD model it was found that the deficiency of GGPP leads to overproduction of IL-1β and defective prenylation of RhoA. This causes an increased level of Rac1 and PKB which was affecting the GTPases and B7-Glycoproteins. It was earlier found that Rac1/PI3K/PKB pathway had been linked to the pathogenesis of MKD. The inactivation of RhoA acts an inducer of IL-1β mRNA transcription independent of NLRP3- or caspase-1 activity. Due to defective RhoA there is a formation of defective mitochondria (elongated and instable) in the cell. If a defective mitochondria it is cleared in the cell by the mechanism of autophagia. But, in MKD the clearance of defective mitochondria from the cytosol is disrupted. As a result, the mitochondrial DNA starts accumulating in the cytosol which binds and activates NLRP3 which is responsible for the production of IL-1β. The activation can be direct or indirect. It can also be activated by reactive oxygen species (ROS).[5] It is known that monocytes and macrophages also produce higher levels of tumor necrosis factor alpha (TNF-α), interleukin 6(IL-6) other than IL-Iβ [5] During the febrile (fever) attacks and during the attacks the C - reactive protein (CRP) also increases.[4] The CRP is released by liver which causes inflammation[13].
## Hyper-IgD syndrome[edit]
Hyperimmunoglobulinemia D with recurrent fever is a periodic fever syndrome originally described in 1984 by the internist Jos van der Meer,[6] then at Leiden University Medical Centre. No more than 300 cases have been described worldwide. It is now recognised as an allelic variant of MKD.[7]
### Signs and symptoms[edit]
HIDS is one of a number of periodic fever syndromes. It is characterised by attacks of fever, arthralgia, skin lesions including cyclical mouth ulcers, and diarrhea. Laboratory features include an acute phase response (elevated CRP and ESR) and markedly elevated IgD (and often IgA), although cases with normal IgD have been described.[8]
It has mainly been described in the Netherlands and France, although the international registry includes a number of cases from other countries.[8]
The differential diagnosis includes fever of unknown origin, familial Mediterranean fever (FMF) and familial Hibernian fever (or TNFα reception associated periodic syndrome/TRAPS).[8]
### Cause[edit]
Virtually all people with the syndrome have mutations in the gene for mevalonate kinase, which is part of the HMG-CoA reductase pathway, an important cellular metabolic pathway.[9][10] Indeed, similar fever attacks (but normal IgD) have been described in patients with mevalonic aciduria – an inborn error of metabolism now seen as a severe form of HIDS.[8]
### Pathophysiology[edit]
It is not known how mevalonate kinase mutations cause the febrile episodes, although it is presumed that other products of the cholesterol biosynthesis pathway, the prenylation chains (geranylgeraniol and farnesol) might play a role.[8]
## Diagnosis[edit]
Mevalonate kinase deficiency causes an accumulation of mevalonic acid in the urine, resulting from insufficient activity of the enzyme mevalonate kinase[11] (ATP:mevalonate 5-phosphotransferase; EC 2.7.1.36).
Mevalonate pathway
The disorder was first described in 1985.[12]
Classified as an inborn error of metabolism, mevalonate kinase deficiency usually results in developmental delay, hypotonia, anemia, hepatosplenomegaly, various dysmorphic features, mental retardation, an overall failure to thrive and several other features.
Mevalonate kinase deficiency has an autosomal recessive pattern of inheritance.
## Treatment[edit]
There is no treatment for MKD. But, the inflammation and the other effects can be reduced to a certain extent.
* IL-1 targeting drugs can be used to reduce the effects of the disorder. Anakinra is antagonist to IL-1 receptors. Anakinra binds the IL-1 receptor, preventing the actions of both IL-1α and IL-1β, and it has been proved to reduce the clinical and biochemical inflammation in MKD. It can effectively decreases the frequency as well as the severity of inflammatory attacks when used on a daily basis. Disadvantages with the usage of this drug are occurrence of painful injection site reaction and as the drug is discontinued in the near future the febrile attacks start. (Examined in a 12-year-old patient).
* Canakinumab is a long acting monoclonal antibody which is directed against IL-1β has shown to be effective in reducing both frequency and severity in patients suffering from mild and severe MKD in case reports and observational case series. It reduces the physiological effects but the biochemical parameter still remain elevated (Galeotti et al. demonstrated that it is more effective than anakinra –considered 6 patients suffering from MKD).
* Anti-TNF therapy might be effective in MKD, but the effect is mostly partial and therapy failure and clinical deterioration have been described frequently in patients on infliximab or etanercept.[5] A beneficial effect of human monoclonal anti-TNFα antibody adalimumab was seen in a small number of MKD patients.
* Most MKD patients are benefited by anti-IL-1 therapy. However, anti-IL-1-resistant disease may also occur. Example. tocilizumab (a humanized monoclonal antibody against the interleukin-6 (IL-6) receptor). This drug is used when the patients are unresponsive towards Anakinra. (Shendi et al. treated a young woman in whom anakinra was ineffective with tocilizumab). It was found that it was effective in reducing the biochemical and clinical inflammation [30].Stoffels et al. observed reduction of frequency and severity of the inflammatory attacks, although after several months of treatment one of these two patients persistently showed mild inflammatory symptoms in the absence of biochemical inflammatory markers.
* A beneficial effect of hematopoietic stem cell transplantation can be used in severe mevalonate kinase deficiency conditions (Improvement of cerebral myelinisation on MRI after allogenic stem cell transplantation was observed in one girl). But, liver transplantation did not influence febrile attacks in this patient.[5]
### Treatment for HIDS[edit]
Canakinumab has been approved for treatment of HIDS and has shown to be effective.[13][14] The immunosuppressant drugs etanercept[15] and anakinra[16] have also shown to be effective. Statin drugs might decrease the level of mevalonate and are presently being investigated. A recent single case report highlighted bisphosphonates as a potential therapeutic option.[17]
## Epidemiology[edit]
In the world less than 1 in 1.00.000 have HIDS [5]. 200 individuals throughout the world do suffer from MKD.[4]
## Additional images[edit]
* Mevalonic acid
## See also[edit]
## References[edit]
1. ^ Online Mendelian Inheritance in Man (OMIM): 251170
2. ^ a b "Mevalonate kinase deficiency".
3. ^ Mancini J, Philip N, Chabrol B, Divry P, Rolland MO, Pinsard N (May–Jun 1993). "Mevalonic aciduria in 3 siblings: a new recognizable metabolic encephalopathy". Pediatr. Neurol. 9 (3): 243–246. doi:10.1016/0887-8994(93)90095-T. PMID 8352861.
4. ^ a b c d "Mevalonate Kinase Deficiency".
5. ^ a b c d Mulders-Manders, CM; Simon, A (2015). "Hyper-IgD syndrome/mevalonate kinase deficiency: what is new?". Semin Immunopathol. 37 (4): 371–6. doi:10.1007/s00281-015-0492-6. PMC 4491100. PMID 25990874.
6. ^ van der Meer JW, Vossen JM, Radl J, et al. (May 1984). "Hyperimmunoglobulinaemia D and periodic fever: a new syndrome". Lancet. 1 (8386): 1087–90. doi:10.1016/S0140-6736(84)92505-4. PMID 6144826.
7. ^ "OMIM Entry - * 251170 - MEVALONATE KINASE; MVK". omim.org.
8. ^ a b c d e Drenth JP, van der Meer JW (December 2001). "Hereditary periodic fever". N. Engl. J. Med. 345 (24): 1748–57. doi:10.1056/NEJMra010200. PMID 11742050.
9. ^ Drenth JP, Cuisset L, Grateau G, et al. (June 1999). "Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group". Nat. Genet. 22 (2): 178–81. doi:10.1038/9696. PMID 10369262.
10. ^ Houten SM, Kuis W, Duran M, et al. (June 1999). "Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome". Nat. Genet. 22 (2): 175–7. doi:10.1038/9691. PMID 10369261.
11. ^ Bretón Martínez JR, Cánovas Martínez A, Casaña Pérez S, Escribá Alepuz J, Giménez Vázquez F (Oct 2007). "Mevalonic aciduria: report of two cases". J. Inherit. Metab. Dis. 30 (5): 829. doi:10.1007/s10545-007-0618-7. PMID 17578678.
12. ^ Berger R, Smit GP, Schierbeek H, Bijsterveld K, le Coultre R (Oct 1985). "Mevalonic aciduria: an inborn error of cholesterol biosynthesis?". Clin. Chim. Acta. 152 (1–2): 219–222. doi:10.1016/0009-8981(85)90195-0. PMID 4053401.
13. ^ Aróstegui, JI; Anton, J.; Calvo, I.; Robles, A.; Speziale, A.; Joubert, Y.; Junge, G.; Yagüe, J. (2015-01-01). "Long-term efficacy and safety of Canakinumab in active Hyper-IgD syndrome (HIDS): results from an open-label study". Pediatric Rheumatology. 13 (1): O58. doi:10.1186/1546-0096-13-S1-O58. ISSN 1546-0096. PMC 4596954.
14. ^ Kozlova, A.; Mamzerova, E.; Maschan, A.; Shcherbina, A. (2014-06-01). "AB0918 Efficacy and Safety of Treatment of Children with Traps and Hids with IL1 Blocker (CANAKINUMAB)". Annals of the Rheumatic Diseases. 73 (Suppl 2): 1103–1104. doi:10.1136/annrheumdis-2014-eular.3697. ISSN 0003-4967.
15. ^ Takada, Kazuki; Aksentijevich, Ivona; Mahadevan, Vijayabhanu; Dean, Jane A.; Kelley, Richard I.; Kastner, Daniel L. (2003-09-01). "Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome". Arthritis and Rheumatism. 48 (9): 2645–2651. doi:10.1002/art.11218. ISSN 0004-3591. PMID 13130485.
16. ^ Rigante D, Ansuini V, Bertoni B, et al. (November 2006). "Treatment with anakinra in the hyperimmunoglobulinemia D/periodic fever syndrome". Rheumatol. Int. 27 (1): 97–100. doi:10.1007/s00296-006-0164-x. PMID 16871408.
17. ^ Cantarini, L; Vitale, A; Magnotti, F; Lucherini, O. M.; Caso, F; Frediani, B; Galeazzi, M; Rigante, D (2013). "Weekly oral alendronate in mevalonate kinase deficiency". Orphanet Journal of Rare Diseases. 8: 196. doi:10.1186/1750-1172-8-196. PMC 3880037. PMID 24360083.
## External links[edit]
Classification
D
* OMIM: 251170
* MeSH: D054078
* DiseasesDB: 29843
* SNOMED CT: 124327008
External resources
* Orphanet: 309025
Classification
D
* OMIM: 260920
* MeSH: D054078
* DiseasesDB: 30161
* SNOMED CT: 124327008
* Mevalonic aciduria at NIH's Office of Rare Diseases
* v
* t
* e
Genetic disorder, organelle: Peroxisomal disorders and lysosomal structural disorders
Peroxisome biogenesis disorder
* Zellweger syndrome
* Neonatal adrenoleukodystrophy
* Infantile Refsum disease
* Adult Refsum disease-2
* RCP 1
Enzyme-related
* Acatalasia
* RCP 2&3
* Mevalonate kinase deficiency
* D-bifunctional protein deficiency
* Adult Refsum disease-1
Transporter-related
* X-linked adrenoleukodystrophy
Lysosomal
* Danon disease
See also: proteins, intermediates
* v
* t
* e
Inborn errors of steroid metabolism
Mevalonate
pathway
* HMG-CoA lyase deficiency
* Hyper-IgD syndrome
* Mevalonate kinase deficiency
To cholesterol
* 7-Dehydrocholesterol path: Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
* CHILD syndrome
* Conradi-Hünermann syndrome
* Lathosterolosis
* Smith–Lemli–Opitz syndrome
* desmosterol path: Desmosterolosis
Steroids
Corticosteroid
(including CAH)
* aldosterone: Glucocorticoid remediable aldosteronism
* cortisol/cortisone: CAH 17α-hydroxylase
* CAH 11β-hydroxylase
* both: CAH 3β-dehydrogenase
* CAH 21-hydroxylase
* Apparent mineralocorticoid excess syndrome/11β-dehydrogenase
Sex steroid
To androgens
* 17α-Hydroxylase deficiency
* 17,20-Lyase deficiency
* Cytochrome b5 deficiency
* 3β-Hydroxysteroid dehydrogenase deficiency
* 17β-Hydroxysteroid dehydrogenase deficiency
* 5α-Reductase deficiency
* Pseudovaginal perineoscrotal hypospadias
To estrogens
* Aromatase deficiency
* Aromatase excess syndrome
Other
* X-linked ichthyosis
* Antley–Bixler syndrome
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Mevalonate kinase deficiency
|
c0342731
| 28,057 |
wikipedia
|
https://en.wikipedia.org/wiki/Mevalonate_kinase_deficiency
| 2021-01-18T19:00:13 |
{"gard": ["3588"], "mesh": ["D054078"], "umls": ["C0342731", "C1959626"], "orphanet": ["29", "309025"], "wikidata": ["Q3043158"]}
|
This article is about the fish oil. For the traditional Newfoundland song, see Cod Liver Oil (song).
"FCLO" redirects here. For the English football team, see Leyton Orient FC.
Modern cod liver oil capsules
Kepler's Cod Liver Oil with Malt Extract
Cod liver oil is a dietary supplement derived from liver of cod fish (Gadidae).[1] As with most fish oils, it contains the omega-3 fatty acids eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA). Cod liver oil also contains vitamin A and vitamin D. Historically, it was given to children because vitamin D had been shown to prevent rickets, a consequence of vitamin D deficiency.[2]
## Contents
* 1 Manufacture
* 2 Therapeutic uses
* 3 Potential adverse effects
* 4 Other uses
* 5 See also
* 6 References
* 7 External links
## Manufacture[edit]
A cod
Making and loading of cod liver oil, Conche, Newfoundland, 1857.
Cod liver oil has traditionally come in many grades. Cod liver oil for human consumption is pale and straw colored, with a mild flavor. Scandinavian Vikings produced cod liver oil by laying birch tree branches over a kettle of water, and fresh livers were laid over the branches. The water was brought to a boil and as the steam rose, the oil from the liver dripped into the water and was skimmed off. There was also a method for producing fresh raw cod liver oil.[3]
In the Industrial Revolution, cod liver oil became popular for industrial purposes. Livers placed in barrels to rot, with the oil skimmed off over the season, was the main method for producing this oil. The resulting oil was brown and foul tasting. In the 1800s cod liver oil became popular as a medicine and both pale and brown oils were used. Brown oils were common because they were cheaper to produce. Some doctors believed in only using the fresh pale oil, while others believed the brown oil was better. However the rancid brown oils tended to cause intestinal upset.[3]
The Möller Process was invented by Peter Möller in 1850. The livers are ground with water into a slurry, then this is gently simmered until the oil rises to the top. The oil is skimmed off and purified.[4] Other methods used in modern times include the Cold Flotation Process, pressure extraction, and pressure cooking. These all require further purification steps to get a pure oil.[5]
## Therapeutic uses[edit]
Though similar in fatty acid composition to other fish oils, cod liver oil has higher concentrations of vitamins A and D. According to the United States Department of Agriculture, a tablespoon (13.6 grams or 14.8 mL) of cod liver oil contains 4,080 μg of retinol (vitamin A) and 34 μg (1360 IU) of vitamin D.[6] The Dietary Reference Intake of vitamin A is 900 μg per day for adult men and 700 μg per day for women, while that for vitamin D is 15 μg per day. The Tolerable upper intake levels (ULs) are 3000 μg/day and 100 μg/day, respectively. People consuming cod liver oil as a source of omega-3 fatty acids should pay attention to how much vitamin A and vitamin D this adds to their diet.[7][8]
Cod liver oil is approximately 20% omega-3 fatty acids.[9] For this reason cod liver oil may be beneficial in secondary prophylaxis after a heart attack.[10] Diets supplemented with cod liver oil have also been demonstrated to have beneficial effects on psoriasis[11] and depression.[12]
## Potential adverse effects[edit]
Retinol (Vitamin A)
A tablespoon (13.6 g) of cod liver oil contains 136% of the UL for preformed vitamin A (retinol).[13][14] Vitamin A accumulates in the liver, and can reach harmful levels sufficient to cause hypervitaminosis A.[7] Pregnant women may want to consider consulting a doctor when taking cod liver oil because of the high amount of retinol.[15]
Fatty acid oxidation and environmental toxins content are reduced when purification processes are applied to produce refined fish oil products.[16]
## Other uses[edit]
In Newfoundland, cod liver oil was sometimes used as the liquid base for traditional red ochre paint, the coating of choice for use on outbuildings and work buildings associated with the cod fishery.
In Tübingen, Germany, drinking a glass of cod liver oil is the punishment for the loser at the traditional Stocherkahnrennen, a punting boat race by University of Tübingen groups.
## See also[edit]
* Dan Dale Alexander
* Shark liver oil
## References[edit]
1. ^ "REPORT OF THE TWENTY FORTH SESSION OF THE CODEX COMMITTEE ON FATS AND OILS" (PDF). Report of the Twenty Forth Session of the CODEX Committee on Fats and Oils. JOINT FAO/WHO FOOD STANDARDS PROGRAMME CODEX ALIMENTARIUS COMMISSION. Archived (PDF) from the original on 10 October 2015. Retrieved 8 December 2015.
2. ^ Rajakumar, K. "Vitamin D, Cod-Liver Oil, Sunlight, and Rickets: A Historical Perspective. 2003". Pediatrics. 112 (2): 132–135.
3. ^ a b "Extra-Virgin Cod Liver Oil History". Archived from the original on 11 October 2016. Retrieved 14 October 2016.
4. ^ "World Class Processing". Archived from the original on 16 October 2016. Retrieved 14 October 2016.
5. ^ "The Fish Liver Oil Industry" (PDF). Archived (PDF) from the original on 18 October 2016. Retrieved 14 October 2016.
6. ^ "Welcome to the USDA Food Composition Database". ndb.nal.usda.gov. Archived from the original on 15 November 2014. Retrieved 29 April 2018.
7. ^ a b Paul Lips (8 May 2003). "Hypervitaminosis A and fractures". N Engl J Med. 348 (4): 1927–1928. doi:10.1056/NEJMe020167. PMID 12540650.
8. ^ Haddad J.G. (30 April 1992). "Vitamin D — Solar Rays, the Milky Way, or Both?". The New England Journal of Medicine. Retrieved 29 January 2012.
9. ^ "Fish oil, cod liver". Nutrition Data. Retrieved 19 March 2019.
10. ^ von Schacky, C (2000). "n-3 Fatty acids and the prevention of coronary atherosclerosis". Am J Clin Nutr. 71 (1 Suppl): 224S–7S. doi:10.1093/ajcn/71.1.224s. PMID 10617975.
11. ^ Wolters, M. (2005). "Diet and psoriasis: experimental data and clinical evidence". British Journal of Dermatology. 153 (4): 706–14. doi:10.1111/j.1365-2133.2005.06781.x. PMID 16181450. S2CID 1426074.
12. ^ Raeder MB, Steen VM, Vollset SE, Bjelland I (August 2007). "Associations between cod liver oil use and symptoms of depression: the Hordaland Health Study". J Affect Disord. 101 (1–3): 245–9. doi:10.1016/j.jad.2006.11.006. PMID 17184843.
13. ^ National Nutrient Database for Standard Reference "USDA Nutrition Facts: Fish oil, cod liver"[permanent dead link] USDA
14. ^ Jane Higdon, Ph.D. of the Linus Pauling Institute "Linus Pauling Institute Micronutirent Center" Archived 17 January 2012 at the Wayback Machine Oregon State University
15. ^ Myhre AM, Carlsen MH, Bøhn SK, Wold HL, Laake P, Blomhoff R (December 2003). "Water-miscible, emulsified, and solid forms of retinol supplements are more toxic than oil-based preparations". Am. J. Clin. Nutr. 78 (6): 1152–9. doi:10.1093/ajcn/78.6.1152. PMID 14668278.
16. ^ Bays H E (19 March 2007). "Safety Considerations with Omega-3 Fatty Acid Therapy". The American Journal of Cardiology. 99 (6 (Supplement 1)): S35–S43. doi:10.1016/j.amjcard.2006.11.020. PMID 17368277.
## External links[edit]
Wikimedia Commons has media related to Cod liver oil.
* v
* t
* e
Cod, haddock and pollock
True cod
* Gadus
* Atlantic cod
* Pacific cod
* Greenland cod
* Alaska pollock
* Norway pollock
Cod-like
* Arctic cod
* East Siberian cod
* Eucla cod
* Blue ling
* Common ling
* Pelagic cod
* Polar cod
* Poor cod
* Rock cod
* Saffron cod
* Small-headed cod
Other cod
* Blue cod
* Eastern freshwater cod
* Mary River cod
* Murray cod
* Potato cod
* Sleepy cod
* Trout cod
* Nototheniidae
* Antarctic cod
* Black cod
* Maori cod
True pollock
* Pollachius
* Atlantic pollock
* Saithe (pollock)
Fisheries
* Bottom trawling
* Cod boat
* Cod fisheries
* Cod fishing in Newfoundland
* Cod Wars
* Collapse of the Atlantic northwest cod fishery
* Fishing stage
* Harold Innis and the cod fishery
Food
* Cod as food
* Ackee and saltfish
* Arbroath smokie
* Bacalaíto
* Boknafisk
* Cabbie claw
* Cod liver oil
* Crappit heid
* Cullen skink
* Dried and salted cod
* Finnan haddie
* Fish and brewis
* Fish and chips
* Fish ball
* Fishcake
* Fish finger
* Fish fry
* Fish pie
* Fried fish
* Lutefisk
* Pescado frito
* Scrod
* Stockfish
* Taramasalata
* Traditional Grimsby smoked fish
Other topics
* Banks dory
* Cajón de rumba
* Cod worm
* Fish flake
* Isinglass
* Sacred Cod
* Whitefish
* Whiting
* v
* t
* e
Dietary supplements
Types
* Amino acids
* Bodybuilding supplement
* Energy drink
* Energy bar
* Fatty acids
* Herbal supplements
* Minerals
* Prebiotics
* Probiotics (Lactobacillus
* Bifidobacterium)
* Protein bar
* Vitamins
Vitamins and
chemical elements
("minerals")
* Retinol (Vitamin A)
* B vitamins
* Thiamine (B1)
* Riboflavin (B2)
* Niacin (B3)
* Pantothenic acid (B5)
* Pyridoxine (B6)
* Biotin (B7)
* Folic acid (B9)
* Cyanocobalamin (B12)
* Ascorbic acid (Vitamin C)
* Ergocalciferol and Cholecalciferol (Vitamin D)
* Tocopherol (Vitamin E)
* Naphthoquinone (Vitamin K)
* Calcium
* Choline
* Chromium
* Cobalt
* Copper
* Fluorine
* Iodine
* Iron
* Magnesium
* Manganese
* Molybdenum
* Phosphorus
* Potassium
* Selenium
* Sodium
* Sulfur
* Zinc
Other common
ingredients
* AAKG
* β-hydroxy β-methylbutyrate
* Carnitine
* Chondroitin sulfate
* Cod liver oil
* Copper gluconate
* Creatine
* Dietary fiber
* Echinacea
* Elemental calcium
* Ephedra
* Fish oil
* Folic acid
* Ginseng
* Glucosamine
* Glutamine
* Grape seed extract
* Guarana
* Iron supplements
* Japanese honeysuckle
* Krill oil
* Lingzhi
* Linseed oil
* Lipoic acid
* Milk thistle
* Melatonin
* Red yeast rice
* Royal jelly
* Saw palmetto
* Spirulina
* St John's wort
* Taurine
* Wheatgrass
* Wolfberry
* Yohimbine
* Zinc gluconate
Related articles
* Codex Alimentarius
* Enzyte
* Hadacol
* Herbal tea
* Nutraceutical
* Multivitamin
* Nutrition
* v
* t
* e
Edible fats and oils
Fats
Pork fats
* Fatback
* Lardo
* Salo
* Salt pork
* Szalonna
* Lard
* Lardon
* Pork belly
* Bacon
* Pancetta
* Tocino
* Speck
Beef/mutton fats
* Dripping
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Dairy fats
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* Smen
Poultry fats
* Chicken fat
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* Schmaltz
Other animal fats
* Blubber
* Muktuk
* Whale oil
Vegetable fats
* Borneo tallow
* Cocoa butter
* Mango butter
* Margarine
* Shea butter
* Vegetable shortening
Oils
Fish oils
* Cod liver oil
* Shark liver oil
Vegetable
oils
Major oils
* Coconut oil
* Corn oil
* Cottonseed oil
* Olive oil
* Palm oil
* palm kernel oil
* Peanut oil
* Rapeseed oil
* Canola oil and Colza oil (toxic oil syndrome)
* Safflower oil
* Soybean oil
* Sunflower oil
Nut oils
* Almond oil
* Argan oil
* Cashew oil
* Hazelnut oil
* Macadamia oil
* Marula oil
* Mongongo nut oil
* Pecan oil
* Pine nut oil
* Pistachio oil
* Walnut oil
Fruit and
seed oils
* Ambadi seed oil
* Avocado oil
* Castor oil
* Grape seed oil
* Hemp oil
* Linseed oil (flaxseed oil)
* Mustard oil
* Olive oil
* Perilla oil
* Poppyseed oil
* Pumpkin seed oil
* Rice bran oil
* Sesame oil
* Tea seed oil
* Watermelon seed oil
See also
List of vegetable oils
Cooking oil
Essential oil
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Cod liver oil
|
None
| 28,058 |
wikipedia
|
https://en.wikipedia.org/wiki/Cod_liver_oil
| 2021-01-18T18:48:58 |
{"mesh": ["D003060"], "wikidata": ["Q748786"]}
|
## Clinical Features
Engel et al. (1970) gave the first report of childbearing by a woman who had had correction of esophageal atresia and tracheoesophageal fistula during infancy. The report was of further significance because her child likewise had esophageal atresia and tracheoesophageal fistula.
Schimke et al. (1972) reviewed the literature on esophageal atresia with or without tracheoesophageal fistula and reported a kindred with 2 proved and 3 probable cases. Affected sibs were reported by several authors and parental consanguinity was reported in at least one study (Grieve and McDermott, 1939). Mendelian inheritance is unlikely.
Dennis et al. (1973) reported esophageal atresia in a boy, his mother, and his mother's sister. They reviewed the literature and concluded that etiology is probably multifactorial. Kiesewetter and Bower (1980) reported affected father and daughter. Van Staey et al. (1984) reviewed 76 familial cases from the literature and added 2 personal observations (distributed in 33 pedigrees). They concluded that 'with exception of the cases where EA is part of a chromosomal or of a known monogenic or teratogenic syndrome, the recurrence risks fit into a multifactorial scheme.' Pletcher et al. (1991) reported 2 families: in one, the mother and a daughter had both esophageal atresia and tracheoesophageal fistula, whereas a son had only esophageal atresia. In the second family, a boy and girl with the same father but different mothers (all normal) had both esophageal atresia and tracheoesophageal fistula.
Shaw-Smith (2006) stated that in approximately half of the cases (syndromic esophageal atresia), there are associated anomalies, with cardiac malformations being the most common. In the remainder (nonsyndromic cases), esophageal atresia/tracheoesophageal fistula occur in isolation.
Population Genetics
Shaw-Smith (2006) estimated that esophageal atresia and/or tracheoesophageal fistula occur in approximately 1 in 3,500 births.
Cytogenetics
Marsh et al. (2000) reported a child with dysmorphic facial features, congenital cardiac malformation, and esophageal atresia with tracheoesophageal fistulae. The child died at 3 1/2 months of age. Karyotype analysis showed an interstitial deletion of chromosome 17, 46,XY,del(17)(q22q23.3). Parental karyotypes were normal.
Molecular Genetics
In a review, Shaw-Smith (2006) noted that data from twin and family studies had suggested that genetic factors do not play a major role; there are, however, at least 3 genes that had been identified as playing a role in the etiology of esophageal atresia: NMYC (164840) in Feingold syndrome (164280); SOX2 (184429) in anophthalmia-esophageal-genital syndrome (AEG syndrome, 206900); and CHD7 (608892) in CHARGE syndrome (214800).
GI \- Esophageal atresia \- Tracheoesophageal fistula Inheritance \- Probably multifactorial ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
TRACHEOESOPHAGEAL FISTULA WITH OR WITHOUT ESOPHAGEAL ATRESIA
|
c0014850
| 28,059 |
omim
|
https://www.omim.org/entry/189960
| 2019-09-22T16:32:28 |
{"doid": ["0080171"], "mesh": ["D004933"], "omim": ["189960"], "orphanet": ["1199"], "synonyms": ["Alternative titles", "ESOPHAGEAL ATRESIA WITH OR WITHOUT TRACHEOESOPHAGEAL FISTULA"], "genereviews": ["NBK5192"]}
|
This article's factual accuracy is disputed. Relevant discussion may be found on the talk page. Please help to ensure that disputed statements are reliably sourced. (September 2019) (Learn how and when to remove this template message)
Fluorine deficiency
Fluoride is sold in tablets for cavity prevention.
CausesLack of fluoride in the diet, poor oral hygiene
Risk factorsDental caries
Fluoride or fluorine deficiency is a disorder[dubious – discuss] which may cause increased dental caries (or tooth decay, is the breakdown of dental tissues by the acidic products released by the "bacterial fermentation of dietary carbohydrates.")[1] and possibly osteoporosis[2] (a bone disorder which leads to a decrease in bone mass, and an increase in bone fragility),[3] due to a lack of fluoride in the diet.[dubious – discuss][4][5] Common dietary sources of fluoride include tea, grape juice, wine, raisins, some seafoods, coffee, and tap water that has been fluoridated.[6] The extent to which the condition truly exists, and its relationship to fluoride poisoning has given rise to some controversy.[7] Fluorine is not considered to be an essential nutrient, but the importance of fluorides for preventing tooth decay is well-recognized,[8] although the effect is predominantly topical.[9] Prior to 1981, the effect of fluorides was thought to be largely systemic and preeruptive, requiring ingestion.[10] Fluoride is considered essential in the development and maintenance of teeth by the American Dental Hygienists' Association.[11] Fluoride is also essential[citation needed] as it incorporates into the teeth to form and harden teeth enamels so that the teeth are more acid resistant as well as more resistant to cavity forming bacteria.[dubious – discuss][12] Caries-inhibiting effects of fluoride were first believed to have been seen in 1902 when fluoride in high concentrations was found to stain teeth and prevent tooth decay.[citation needed]
Fluoride salts, particularly sodium fluoride (NaF), are used in the treatment and prevention of osteoporosis.[dubious – discuss] [13] Symptoms such as fractured hips in the elderly or brittle and weak bones are caused due to fluorine deficiency in the body.[dubious – discuss][14] Fluoride stimulates bone formation and increases bone density,[15] however bone with excess fluoride content has an abnormal structure resulting in increased fragility. Thus fluoride therapy results in large increases in bone mineral density but the effect on fracture rates, while positive, is small.[15][16][17]
Disputes over the essentiality of fluorine date back to the 19th century, when fluorine was observed in teeth and bones.[18] In 1973 a trial found reduced reproduction in mice fed fluorine-deficient diets, but a subsequent investigation determined that this was due to reduced iron absorption.[19]
## Contents
* 1 Role of fluoride
* 2 Sources of fluoride
* 2.1 Water
* 2.2 Dentrifices
* 2.3 Fluoride supplements
* 3 Dietary recommendations
* 4 See also
* 5 References
* 6 External links
## Role of fluoride[edit]
Fluoride has proven to be an essential element with preventative and protective properties.[citation needed] Fluoride is capable of combating and working against tooth decay and increases resistance to the "demineralisation of tooth enamel during attack by acidic bacterias".[20] While essential for all individuals[citation needed], it is significant for children, as when ingested, the fluoride is incorporated into their developing enamel.[dubious – discuss] This in turn causes their teeth to become less prone to decay. Therefore, a relationship can be formulated, in that the more fluoride entering the body, the overall decline in the rate of decay.[20]
## Sources of fluoride[edit]
Fluorine is the 13th most aboundant element in the Earth's crust. The ionic form of fluorine is called fluoride. Fluoride is most commonly found as inorganic or organic fluorides such as naturally occurring calcium fluoride or synthetic sodium fluoride.[citation needed] There are a number of sources of fluoride, these include:
### Water[edit]
In Australia fluoride occurs naturally within water supplies, at a concentration of approximately 0.1 mg/L. However, this number varies amongst different populations, as specific fluoridated communities exceed this amount, ranging from 0.6 to 1.0 mg/L of fluoride present.[citation needed] The process of incorporating more fluoride into water systems is an affordable mechanism that can provide many beneficial effects in the long term.
### Dentrifices[edit]
Fluoride toothpaste came into production in the 1890s, after its benefits were investigated. This product has become available to most industrialised countries, and within Australia accounts for "90% of total toothpaste purchased".[citation needed]
### Fluoride supplements[edit]
Fluoride supplements were first recognised and highly suggested by health professionals, in areas where the practice of fluoridating water was not accepted. Such mechanisms are recommended for individuals, primarily children (whom of which are at a greater risk of caries) in low-fluoride areas.
## Dietary recommendations[edit]
The U.S. Institute of Medicine (IOM) updated Estimated Average Requirements (EARs) and Recommended Dietary Allowances (RDAs) for some minerals in 1997. Where there was not sufficient information to establish EARs and RDAs, an estimate designated Adequate Intake (AI) was used instead. AIs are typically matched to actual average consumption, with the assumption that there appears to be a need, and that need is met by what people consume. The current AI for women 19 years and older is 3.0 mg/day (includes pregnancy and lactation). The AI for men is 4.0 mg/day. The AI for children ages 1–18 increases from 0.7 to 3.0 mg/day. As for safety, the IOM sets Tolerable upper intake levels (ULs) for vitamins and minerals when evidence is sufficient. In the case of fluoride the UL is 10 mg/day. Collectively the EARs, RDAs, AIs and ULs are referred to as Dietary Reference Intakes (DRIs).[21]
The European Food Safety Authority (EFSA) refers to the collective set of information as Dietary Reference Values, with Population Reference Intake (PRI) instead of RDA, and Average Requirement instead of EAR. AI and UL defined the same as in United States. For women ages 18 and older the AI is set at 2.9 mg/day (includes pregnancy and lactation). For men the value is 3.4 mg/day. For children ages 1–17 years the AIs increase with age from 0.6 to 3.2 mg/day. These AIs are comparable to the U.S. AIs.[22] The EFSA reviewed safety evidence and set an adult UL at 7.0 mg/day (lower for children).[23]
## See also[edit]
* Water fluoridation
* Public relations campaigns of Edward Bernays
## References[edit]
1. ^ Selwitz, Robert H (2007). "Dental Caries". The Lancet. 369 (9555): 51–9. doi:10.1016/S0140-6736(07)60031-2. PMID 17208642. S2CID 204616785.
2. ^ Kleerekoper, M. (1998). "The Role of Fluoride in the Prevention of Osteoporosis". Endocrinology and Metabolism Clinics of North America. 27 (2): 441–452. doi:10.1016/S0889-8529(05)70015-3. PMID 9669148.
3. ^ 'Vilela';'Nunes', 'Pedro'; 'Teresa' (2011). "Osteoporosis International". Neuroradiology. 53: 185–189. doi:10.1007/s00234-011-0925-4. PMID 21863428.CS1 maint: multiple names: authors list (link)
4. ^ "Fluorine". Merck. Retrieved 2009-01-04.
5. ^ Ilich, J. Z.; Kerstetter, J. E. (2000). "Nutrition in Bone Health Revisited: A Story Beyond Calcium". Journal of the American College of Nutrition. 19 (6): 715–737. doi:10.1080/07315724.2000.10718070. PMID 11194525. S2CID 18598975.
6. ^ "Fluoride in the UK diet". 2014. Retrieved 2015-04-16. Cite journal requires `|journal=` (help)
7. ^ Gazzano, E.; Bergandi, L.; Riganti, C.; Aldieri, E.; Doublier, S.; Costamagna, C.; Bosia, A.; Ghigo, D. (2010). "Fluoride Effects: The Two Faces of Janus". Current Medicinal Chemistry. 17 (22): 2431–2441. doi:10.2174/092986710791698503. PMID 20491635.
8. ^ Olivares M, Uauy R (2004). "Essential nutrients in drinking-water (Draft)" (PDF). WHO. Archived from the original (PDF) on 2012-10-19. Retrieved 2008-12-30.
9. ^ Pizzo G, Piscopo MR, Pizzo I, Giuliana G (September 2007). "Community water fluoridation and caries prevention: a critical review". Clin Oral Investig. 11 (3): 189–93. doi:10.1007/s00784-007-0111-6. PMID 17333303. S2CID 13189520.
10. ^ Aoba T, Fejerskov O (2002). "Dental fluorosis: chemistry and biology". Crit. Rev. Oral Biol. Med. 13 (2): 155–70. doi:10.1177/154411130201300206. PMID 12097358. Archived from the original on 2012-07-07.
11. ^ "Nutritional Factors in Tooth Development". ADHA. Retrieved 2008-12-30.
12. ^ "Effect of Inorganic Fluoride on Living Organisms of Different Phylogenetic Level". 2010. Cite journal requires `|journal=` (help)
13. ^ Wood, A. J. J.; Riggs, B. L.; Melton, L. J. (1992). "The Prevention and Treatment of Osteoporosis". New England Journal of Medicine. 327 (9): 620–627. doi:10.1056/NEJM199208273270908. PMID 1640955.
14. ^ "Health Supplements and Nutritional Guides".
15. ^ a b Riggs, BL; Hodgson, SF; O'Fallon, WM; Chao, EY; Wahner, HW; Muhs, JM; Cedel, SL; Melton LJ, 3rd (22 March 1990). "Effect of fluoride treatment on the fracture rate in postmenopausal women with osteoporosis". The New England Journal of Medicine. 322 (12): 802–9. doi:10.1056/nejm199003223221203. PMID 2407957.
16. ^ Mamelle, N; Meunier, PJ; Dusan, R; Guillaume, M; Martin, JL; Gaucher, A; Prost, A; Zeigler, G; Netter, P (13 August 1988). "Risk-benefit ratio of sodium fluoride treatment in primary vertebral osteoporosis". Lancet. 2 (8607): 361–5. doi:10.1016/s0140-6736(88)92834-6. PMID 2899773. S2CID 43513696.
17. ^ Kleerekoper, M; Peterson, EL; Nelson, DA; Phillips, E; Schork, MA; Tilley, BC; Parfitt, AM (June 1991). "A randomized trial of sodium fluoride as a treatment for postmenopausal osteoporosis" (PDF). Osteoporosis International. 1 (3): 155–61. doi:10.1007/BF01625446. hdl:2027.42/45905. PMID 1790403. S2CID 15552937.
18. ^ Meiers P. Fluoride Research in the 19th and early 20th century . Retrieved 2009-1-4.
19. ^ Tao S, Suttie JW (August 1976). "Evidence for a lack of an effect of dietary fluoride level on reproduction in mice". J. Nutr. 106 (8): 1115–22. doi:10.1093/jn/106.8.1115. PMID 939992.
20. ^ a b Gluckman, P.; Skegg, D. (2014). "Health effects of water fluoridation: A review of the scientific evidence" (PDF). Royal Society of New Zealand. Retrieved 15 April 2015.
21. ^ Institute of Medicine (1997). "Fluoride". Dietary Reference Intakes for Calcium, Phosphorus, Magnesium, Vitamin D and Fluoride. Washington, DC: The National Academies Press. pp. 288–313.
22. ^ "Overview on Dietary Reference Values for the EU population as derived by the EFSA Panel on Dietetic Products, Nutrition and Allergies" (PDF). 2017.
23. ^ Tolerable Upper Intake Levels For Vitamins And Minerals (PDF), European Food Safety Authority, 2006
## External links[edit]
Classification
D
* ICD-9-CM: 269.3
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Fluorine deficiency
|
c4303521
| 28,060 |
wikipedia
|
https://en.wikipedia.org/wiki/Fluorine_deficiency
| 2021-01-18T19:00:52 |
{"umls": ["CL517496"], "icd-9": ["269.3"], "wikidata": ["Q5462852"]}
|
Potocki-Lupski syndrome (PTLS) is a genetic disorder characterized by the presence of an extra copy of a tiny portion of chromosome 17 (duplication of 17p11.2). People with this duplication often have some degree of developmental delay (primarily speech delay), low muscle tone, poor feeding, and failure to thrive during infancy. In addition, many individuals display some behaviors commonly associated with autism spectrum disorders. Some people with PTLS have a heart defect. While most cases of PTLS occur sporadically, in rare cases, it may be inherited. Treatment involves physical, occupational, and speech therapy, and/or medical or surgical treatment for heart defects.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Potocki-Lupski syndrome
|
c2931246
| 28,061 |
gard
|
https://rarediseases.info.nih.gov/diseases/10145/potocki-lupski-syndrome
| 2021-01-18T17:58:13 |
{"mesh": ["C538355"], "omim": ["610883"], "umls": ["C1970482"], "orphanet": ["1713"], "synonyms": ["PTLS", "Duplication 17p11.2 syndrome", "Potocki-Lupski syndrome (dup(17)(p11.2p11.2))"]}
|
A number sign (#) is used with this entry because of evidence that X-linked primary ciliary dyskinesia-36 (CILD36) is caused by hemizygous mutation in the PIH1D3 gene (300933) on chromosome Xq22.
Description
CILD36 is an X-linked recessive disorder characterized by chronic airway disease and recurrent sinopulmonary infections beginning in childhood and caused by defective ciliary function. Affected individuals also have infertility due to defective sperm flagella. About half of patients have laterality defects due to ciliary dysfunction at the embryonic node (summary by Paff et al., 2017).
For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).
Clinical Features
Paff et al. (2017) reported 2 unrelated male patients with primary ciliary dyskinesia associated with situs inversus totalis. They had classic features of the disorder, including neonatal respiratory distress, chronic sinusitis, chronic otitis media, and chronic lower respiratory tract infections resulting in bronchiectasis. Nasal nitric oxide was decreased, and videomicroscopy of respiratory epithelial cells and sperm flagella showed completely immotile cilia. Electron microscopy of respiratory cilia showed an absence of outer dynein arms (ODAs) and a possible reduction of inner dynein arms (IDAs). One of the probands had a similarly affected brother and uncle with respiratory symptoms and a history of sub- or infertility due to immotile sperm, although neither had situs inversus.
Inheritance
The transmission pattern of CILD36 in the family reported by Paff et al. (2017) was consistent with X-linked recessive inheritance.
Molecular Genetics
In 2 brothers and their maternal uncle with CILD36, Paff et al. (2017) identified a hemizygous frameshift mutation in the PIH1D3 gene (300933.0001). An unrelated male patient with CILD36 carried a different hemizygous truncating mutation (300933.0002) that occurred de novo. The patients were part of a larger cohort of 75 individuals with CILD who underwent targeted exome sequencing of a panel of 310 genes. Western blot analysis of patient respiratory epithelial cells from the family showed absence of the PIH1D3 protein, consistent with a loss of function. Direct sequencing of the PIH1D3 gene in 40 additional males with PCD with ODA or combined ODA/IDA defects did not identify any additional mutations.
Animal Model
Dong et al. (2014) found that Pih1d3 -/- mice were born at the expected mendelian frequency and showed no overt phenotype. However, Pih1d3 -/- males were sterile due to immobility and fragility of sperm. Pih1d3 -/- females showed normal fertility. Outer dynein arms were almost entirely missing from Pih1d3 -/- sperm, and inner dynein arms were lost in some but not all mutant sperm. Mutant sperm showed reduced content of inner and outer dynein arm proteins. Dong et al. (2014) concluded that Pih1d3 is required for cytoplasmic preassembly of axonemal dyneins in mouse sperm.
INHERITANCE \- X-linked recessive HEAD & NECK Head \- Sinusitis, recurrent Ears \- Otitis, recurrent RESPIRATORY \- Respiratory distress, neonatal \- Respiratory infections, recurrent (due to impaired ciliary clearance) \- Chronic cough Lung \- Bronchiectasis ABDOMEN \- Situs inversus totalis (in about 50% of patients) GENITOURINARY Internal Genitalia (Male) \- Infertility (due to immotile sperm) LABORATORY ABNORMALITIES \- Decreased nasal nitric oxide \- Absence of outer dynein arms seen on electron microscopy (EM) of respiratory cilia \- Reduction of inner dynein arms seen on EM of respiratory cilia MISCELLANEOUS \- One family and 1 unrelated patient have been reported (last curated February 2017) MOLECULAR BASIS \- Caused by mutation in the PIH1 domain-containing protein 3 (PIH1D3, 300933.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED
|
c4478372
| 28,062 |
omim
|
https://www.omim.org/entry/300991
| 2019-09-22T16:19:01 |
{"omim": ["300991", "244400"], "orphanet": ["244"], "synonyms": ["Alternative titles", "CILIARY DYSKINESIA, PRIMARY, 36, WITH OR WITHOUT SITUS INVERSUS", "PCD"]}
|
A number sign (#) is used with this entry because of evidence that X-linked Galloway-Mowat syndrome-2 (GAMOS2) is caused by hemizygous mutation in the LAGE3 gene (300060) on chromosome Xq28.
Description
Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).
For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (251300).
Clinical Features
Braun et al. (2017) reported 4 male patients from 3 unrelated families with GAMOS4. The families were of European (B65), Japanese (B60), and Taiwanese descent (16M0417), respectively. Two Japanese brothers (B60 and his sib) had previously been reported by Shiihara et al. (2003). The patients presented with nephrotic syndrome with proteinuria between 3 months and 2 years of age. One had end-stage renal disease resulting in death at 8 months, whereas 2 sibs had a more protracted course and died at ages 8 and 25 years, respectively. The fourth patient was alive at age 5 months, although he had end-stage renal disease. Renal biopsy showed focal segmental glomerulosclerosis (FSGS) or minimal change disease. Neurologic features included primary microcephaly, developmental delay with intellectual disability, speech delay, seizures, hypotonia, dysmetria, nystagmus, and spasticity. Brain imaging showed variable abnormalities, such as polymicrogyria, poor myelination, cerebral atrophy, and cerebellar hypoplasia. Most patients had dysmorphic facial features, including narrow forehead, esotropia, micrognathia, and high-arched palate. Additional variable features included short stature, arachnodactyly, scoliosis, intrauterine growth retardation, and feeding difficulties.
Inheritance
The transmission pattern of GAMOS2 in the families reported by Braun et al. (2017) was consistent with X-linked recessive inheritance.
Molecular Genetics
In 4 male patients from 3 unrelated families with GAMOS2, Braun et al. (2017) identified hemizygous mutations in the LAGE3 gene (300060.0001-300060.0003). The mutations were inherited from the unaffected mothers; cells derived from 2 of the mothers showed skewed X inactivation. The LAGE3 mutations did not abrogate intermolecular interactions among KEOPS complex proteins; however, additional functional studies of the LAGE3 variants were not performed. The mutations were found by whole-exome sequencing and high-throughput exon sequencing of gene members of the KEOPS complex after mutations in the OSGEP gene (610107) were identified. Cellular knockdown studies of other KEOPS complex genes suggested that human mutations impair both the canonical and noncanonical functions of the KEOPS complex, resulting in several potential pathogenic mechanisms, including translational attenuation, activation of DNA damage response (DDR) signaling, increased apoptosis, and defects in actin regulation, which would have major effects on neurons and podocytes. The GAMOS2 families were part of a cohort of 91 GAMOS families who underwent genetic studies: mutations in 3 other genes of the KEOPS complex (OSGEP; TPRKB, 608680; and TP53RK, 608679) were also identified; mutations in these 4 genes were found in a total of 32 GAMOS families.
Animal Model
Braun et al. (2017) found that CRISPR/Cas9-mediated knockdown of the Lage3 gene in mouse embryos resulted in a microcephaly phenotype, with significantly shorter cerebral cortex lengths, cortex-midbrain midline lengths, and cortex widths compared to wildtype embryos. Mutant mice did not have a renal phenotype, possibly a result of early lethality masking renal involvement that may have occurred in older animals.
INHERITANCE \- X-linked recessive GROWTH Height \- Short stature Other \- Intrauterine growth retardation HEAD & NECK Head \- Microcephaly Face \- Narrow forehead \- Micrognathia Eyes \- Nystagmus \- Esotropia Mouth \- High-arched palate ABDOMEN Gastrointestinal \- Poor feeding GENITOURINARY Kidneys \- Nephrotic syndrome \- End-stage renal disease (in some patients) \- Focal segmental glomerulosclerosis seen on renal biopsy \- Minimal change disease SKELETAL Spine \- Scoliosis Hands \- Arachnodactyly MUSCLE, SOFT TISSUES \- Hypotonia NEUROLOGIC Central Nervous System \- Delayed psychomotor development \- Intellectual disability \- Speech delay \- Seizures \- Spasticity \- Dysmetria \- Polymicrogyria \- Poor myelination \- Cerebral atrophy \- Cerebellar atrophy LABORATORY ABNORMALITIES \- Proteinuria MISCELLANEOUS \- Onset in the first months or years of life \- Death may occur \- Four patients from 3 unrelated families have been reported (last curated October 2017) MOLECULAR BASIS \- Caused by mutation in the L antigen family, member 3 gene (LAGE3, 300060.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
GALLOWAY-MOWAT SYNDROME 2, X-LINKED
|
c0795949
| 28,063 |
omim
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https://www.omim.org/entry/301006
| 2019-09-22T16:18:59 |
{"doid": ["0080244"], "mesh": ["C537548"], "omim": ["301006"], "orphanet": ["2065"]}
|
"Stutter" redirects here. For other uses, see Stutter (disambiguation).
"Stammer" redirects here. For other uses, see Stammer (disambiguation).
"Stammerer" redirects here. For people with the epithet "the Stammerer", see List of people known as the Stammerer.
"Stutterer" redirects here. For the short film, see Stutterer (film).
Stuttering
Other namesStammering, alalia syllabaris, alalia literalis, anarthria literalis, dysphemia.[1]
Pronunciation
* Stuttering (/ˈstʌtərɪŋ/), stammering (/ˈstæmərɪŋ/
SpecialtySpeech-language pathology
SymptomsInvoluntary sound repetition and disruption or blocking of speech
ComplicationsShame, bullying, social anxiety, fear of public speaking
Usual onset2–5 years
DurationLong term
CausesUnknown
Differential diagnosisdysphonia[1]
TreatmentSpeech therapy
MedicationDopamine antagonists
PrognosisUsually resolves by late childhood; 20% of cases last into adulthood
FrequencyAbout 1%
Stuttering, also known as stammering and dysphemia, is a speech disorder in which the flow of speech is disrupted by involuntary repetitions and prolongations of sounds, syllables, words, or phrases as well as involuntary silent pauses or blocks in which the person who stutters is unable to produce sounds.[2] The term stuttering is most commonly associated with involuntary sound repetition, but it also encompasses the abnormal hesitation or pausing before speech, referred to by people who stutter as blocks, and the prolongation of certain sounds, usually vowels or semivowels. According to Watkins et al., stuttering is a disorder of "selection, initiation, and execution of motor sequences necessary for fluent speech production".[3] For many people who stutter, repetition is the main concern. The term "stuttering" covers a wide range of severity, from barely perceptible impediments that are largely cosmetic to severe symptoms that effectively prevent oral communication. Almost 70 million people worldwide stutter,[4] about 1% of the world's population.[3] It is common for individuals who suffer from a lifetime of stuttering for their symptoms to worsen considerably as they reach their 70s and 80s.[5]
The impact of stuttering on a person's functioning and emotional state can be severe. This may include fears of having to enunciate specific vowels or consonants, fears of being caught stuttering in social situations, self-imposed isolation, anxiety, stress, shame, low self-esteem, being a possible target of bullying (especially in children), having to use word substitution and rearrange words in a sentence to hide stuttering, or a feeling of "loss of control" during speech. Stuttering is sometimes popularly seen as a symptom of anxiety, but there is no direct correlation in that direction.[6]
Stuttering is generally not a problem with the physical production of speech sounds or putting thoughts into words. Acute nervousness and stress are not thought to cause stuttering, but they can trigger stuttering in people who have the speech disorder, and living with a stigmatized disability can result in anxiety and high allostatic stress load (chronic nervousness and stress) that reduce the amount of acute stress necessary to trigger stuttering in any given person who stutters, worsening the situation in the manner of a positive feedback system; the name 'stuttered speech syndrome' has been proposed for this condition.[7][8] Neither acute nor chronic stress, however, itself creates any predisposition to stuttering.
The disorder is also variable, which means that in certain situations, such as talking on the telephone or in a large group, the stuttering might be more severe or less, depending on whether or not the person who stutters is self-conscious about their stuttering. People who stutter often find that their stuttering fluctuates and that they have "good" days, "bad" days and "stutter-free" days. The times in which their stuttering fluctuates can be random.[9] Although the exact etiology, or cause, of stuttering is unknown, both genetics and neurophysiology are thought to contribute. There are many treatments and speech therapy techniques available that may help decrease speech disfluency in some people who stutter to the point where an untrained ear cannot identify a problem; however, there is essentially no cure for the disorder at present. The severity of the person's stuttering would correspond to the amount of speech therapy needed to decrease disfluency. For severe stuttering, long-term therapy and hard work is required to decrease disfluency.[10]
## Contents
* 1 Characteristics
* 1.1 Common behaviors
* 1.2 Variability
* 1.3 Feelings and attitudes
* 1.4 Fluency and disfluency
* 2 Causes
* 3 Mechanism
* 3.1 Physiology
* 3.2 Abnormal lateralization
* 3.3 Other anatomical differences
* 3.4 Dopamine
* 4 Diagnosis
* 4.1 Normal disfluency
* 4.2 Classification
* 4.2.1 Developmental
* 4.2.1.1 Neurogenic stuttering
* 4.2.2 Acquired stuttering
* 5 Treatment
* 5.1 Fluency shaping therapy
* 5.2 Modification therapy
* 5.3 Electronic fluency device
* 5.4 Mobile applications
* 5.5 Medications
* 5.6 Support
* 5.7 Psychological approach
* 5.8 Diaphragmatic breathing
* 6 Prognosis
* 7 Epidemiology
* 8 History
* 9 Society and culture
* 9.1 Bilingual stuttering
* 9.1.1 Identification
* 9.1.2 Research
* 10 In popular culture
* 11 See also
* 12 Notes
* 13 References
* 14 Further reading
* 15 External links
## Characteristics[edit]
### Common behaviors[edit]
Common stuttering behaviors are observable signs of speech disfluencies, for example: repeating sounds, syllables, words or phrases, silent blocks and prolongation of sounds. These differ from the normal disfluencies found in all speakers in that stuttering disfluencies may last longer, occur more frequently, and are produced with more effort and strain.[11] Stuttering disfluencies also vary in quality: common disfluencies tend to be repeated movements, fixed postures, or superfluous behaviors. Each of these three categories is composed of subgroups of stutters and disfluencies.[12]
* Repeated movements[12]
* Syllable repetition—a single syllable word is repeated (for example: on—on—on a chair) or a part of a word which is still a full syllable such as "un—un—under the..." and "o—o—open".
* Incomplete syllable repetition—an incomplete syllable is repeated, such as a consonant without a vowel, for example, "c—c—c—cold".
* Multi-syllable repetition—more than one syllable such as a whole word, or more than one word is repeated, such as "I know—I know—I know a lot of information.".
* Fixed postures[12]
* With audible airflow—prolongation of a sound occurs such as "mmmmmmmmmom".
* Without audible airflow—such as a block of speech or a tense pause where nothing is said despite efforts.
* Superfluous behaviors[12]
* Verbal—this includes an interjection such as an unnecessary uh or um as well as revisions, such as going back and correcting one's initial statements such as "I—My girlfriend...", where the I has been corrected to the word my.
* Nonverbal—these are visible or audible speech behaviors, such as lip smacking, throat clearing, head thrusting, etc., usually representing an effort to break through or circumvent a block or stuttering loop.
### Variability[edit]
The severity of a stutter is often not constant even for people who severely stutter. Stutterers commonly report dramatically increased fluency when talking in unison with another speaker, copying another's speech, whispering, singing, and acting or when talking to pets, young children, or themselves.[13] Other situations, such as public speaking and speaking on the telephone, are often greatly feared, and increased stuttering is reported.[14]
### Feelings and attitudes[edit]
Stuttering could have a significant negative cognitive and affective impact on the person who stutters. It has been described in terms of the analogy to an iceberg, with the immediately visible and audible symptoms of stuttering above the waterline and a broader set of symptoms such as negative emotions hidden below the surface.[15] Feelings of embarrassment, shame, frustration, fear, anger, and guilt are frequent in people who stutter,[16] and may actually increase tension and effort, leading to increased stuttering.[17] With time, continued exposure to difficult speaking experiences may crystallize into a negative self-concept and self-image. Many perceive stutterers as less intelligent due to their disfluency; however, as a group, individuals who stutter tend to be of above average intelligence.[18] People who stutter may project their attitudes onto others, believing that the others think them nervous or stupid. Such negative feelings and attitudes may need to be a major focus of a treatment program.[17]
Many people who stutter report a high emotional cost, including jobs or promotions not received, as well as relationships broken or not pursued.[19]
### Fluency and disfluency[edit]
Linguistic tasks can invoke speech disfluency. People who stutter may experience varying disfluency.[20] Tasks that trigger disfluency usually require a controlled-language processing, which involves linguistic planning. In stuttering, it is seen that many individuals do not demonstrate disfluencies when it comes to tasks that allow for automatic processing without substantial planning. For example, singing "Happy Birthday" or other relatively common, repeated linguistic discourses, could be fluid in people who stutter. Tasks like this reduce semantic, syntactic, and prosodic planning, whereas spontaneous, "controlled" speech or reading aloud requires thoughts to transform into linguistic material and thereafter syntax and prosody. Some researchers hypothesize that controlled-language activated circuitry consistently does not function properly in people who stutter, whereas people who do not stutter only sometimes display disfluent speech and abnormal circuitry.[20]
## Causes[edit]
No single, exclusive cause of developmental stuttering is known. A variety of hypotheses and theories suggests multiple factors contributing to stuttering.[21] Among these is the strong evidence that stuttering has a genetic basis.[22] Children who have first-degree relatives who stutter are three times as likely to develop a stutter.[23] However, twin and adoption studies suggest that genetic factors interact with environmental factors for stuttering to occur,[24] and many stutterers have no family history of the disorder.[25] There is evidence that stuttering is more common in children who also have concurrent speech, language, learning or motor difficulties.[26] Robert West, a pioneer of genetic studies in stuttering, has suggested that the presence of stuttering is connected to the fact that articulated speech is the last major acquisition in human evolution.[27]
Another view is that a stutter or stammer is a complex tic. This view is held for the following reasons. It always arises from repetition of sounds or words. Young children like repetition and the more tense they are feeling, the more they like this outlet for their tension – an understandable and quite normal reaction. They are capable of repeating all types of behaviour. The more tension that is felt, the less one likes change. The more change, the greater can be the repetition. So, when a 3 year old finds he has a new baby brother or sister he may start repeating sounds. The repetitions can become conditioned and automatic and ensuing struggles against the repetitions result in prolongations and blocks in his speech. More boys stammer than girls, in the ratio of 3–4 boys : 1 girl. This is because the male Hypothalamic-Pituitary-Adrenal (HPA) Axis is more active. As males produce more cortisol than females under the same provocation, they can be tense or anxious and become repetitive.[28]
In a 2010 article, three genes were found by Dennis Drayna and team to correlate with stuttering: GNPTAB, GNPTG, and NAGPA. Researchers estimated that alterations in these three genes were present in 9% of those who have a family history of stuttering.[29][30]
For some people who stutter, congenital factors may play a role. These may include physical trauma at or around birth, learning disabilities, as well as cerebral palsy. In others, there could be added impact due to stressful situations such as the birth of a sibling, moving, or a sudden growth in linguistic ability.[22][24]
There is clear empirical evidence for structural and functional differences in the brains of stutterers. Research is complicated somewhat by the possibility that such differences could be the consequences of stuttering rather than a cause, but recent research on older children confirms structural differences thereby giving strength to the argument that at least some of the differences are not a consequence of stuttering.[31][32]
Auditory processing deficits have also been proposed as a cause of stuttering. Stuttering is less prevalent in deaf and hard-of-hearing individuals,[33] and stuttering may be reduced when auditory feedback is altered, such as by masking, delayed auditory feedback (DAF), or frequency altered feedback.[21][34] There is some evidence that the functional organization of the auditory cortex may be different in people who stutter.[21]
There is evidence of differences in linguistic processing between people who stutter and people who do not.[35] Brain scans of adult stutterers have found greater activation of the right hemisphere, which is associated with emotions, than of the left hemisphere, which is associated with speech. In addition, reduced activation in the left auditory cortex has been observed.[21][24]
The capacities and demands model has been proposed to account for the heterogeneity of the disorder. In this approach, speech performance varies depending on the capacity that the individual has for producing fluent speech, and the demands placed upon the person by the speaking situation. Capacity for fluent speech may be affected by a predisposition to the disorder, auditory processing or motor speech deficits, and cognitive or affective issues. Demands may be increased by internal factors such as lack of confidence or self esteem or inadequate language skills or external factors such as peer pressure, time pressure, stressful speaking situations, insistence on perfect speech, and the like. In stuttering, the severity of the disorder is seen as likely to increase when demands placed on the person's speech and language system exceed their capacity to deal with these pressures.[36] However, the precise nature of the capacity or incapacity has not been delineated.
## Mechanism[edit]
### Physiology[edit]
Though neuroimaging studies have not yet found specific neural correlates, there is much evidence that the brains of adults who stutter differ from the brains of adults who do not stutter. Several neuroimaging studies have emerged to identify areas associated with stuttering. In general, during stuttering, cerebral activities change dramatically in comparison to silent rest or fluent speech between people who stutter and people who do not. There is evidence that people who stutter activate motor programs before the articulatory or linguistic processing is initiated. Brain imaging studies have primarily been focused on adults. However, the neurological abnormalities found in adults does not determine whether childhood stuttering caused these abnormalities or whether the abnormalities cause stuttering.[31]
Studies utilizing positron emission tomography (PET) have found during tasks that invoke disfluent speech, people who stutter show hypoactivity in cortical areas associated with language processing, such as Broca's area, but hyperactivity in areas associated with motor function.[20] One such study that evaluated the stutter period found that there was overactivation in the cerebrum and cerebellum, and relative deactivation of the left hemisphere auditory areas and frontal temporal regions.[37]
Functional magnetic resonance imaging (fMRI) has found abnormal activation in the right frontal operculum (RFO), which is an area associated with time-estimation tasks, occasionally incorporated in complex speech.[20]
Researchers have explored temporal cortical activations by utilizing magnetoencephalography (MEG). In single-word-recognition tasks, people who did not stutter showed cortical activation first in occipital areas, then in left inferior-frontal regions such as Broca's area, and finally, in motor and premotor cortices. The stutterers also first had cortical activation in the occipital areas but the left inferior-frontal regions were activated only after the motor and premotor cortices were activated.[20][37]
During speech production, people who stutter show overactivity in the anterior insula, cerebellum and bilateral midbrain. They show underactivity in the ventral premotor, Rolandic opercular and sensorimotor cortex bilaterally and Heschl's gyrus in the left hemisphere.[31] Additionally, speech production yields underactivity in cortical motor and premotor areas.[31]
### Abnormal lateralization[edit]
Much evidence from neuroimaging techniques has supported the theory that the right hemisphere of people who stutter interferes with left-hemisphere speech production.
Adults who stutter have anatomical differences in gyri within the perisylvian frontotemporal areas. A large amount of white matter is found in the right hemisphere of the brain, including the region of the superior temporal gyrus. This was discovered using voxel-based morphometry (VBM). On the other hand, lesser amounts of white matter are found in the left inferior arcuate fasciculus connecting the temporal and frontal areas in stuttering adults.[38]
Results have shown that there is less coordination between the speech motor and planning regions in the brain's left hemisphere of men and women who stutter, when compared to a non-stuttering control group.[39] Anatomical connectivity of the speech motor and planning regions is less vigorous in adults who stutter, especially women. Men who stutter seem to have more right-sided motor connectivity. On the other hand, stuttering women have less connectivity with the right motor regions.[39]
In non-stuttering, normal speech, PET scans show that both hemispheres are active but that the left hemisphere may be more active. By contrast, people who stutter yield more activity on the right hemisphere, suggesting that it might be interfering with left-hemisphere speech production. Another comparison of scans anterior forebrain regions are disproportionately active in stuttering subjects, while post-rolandic regions are relatively inactive.[40]
Bilateral increases and unusual right-left asymmetry has been found in the planum temporale when comparing people who stutter and people who do not.[37] These studies have also found that there are anatomical differences in the Rolandic operculum and arcuate fasciculus.[3]
### Other anatomical differences[edit]
The corpus callosum transfers information between the left and right cerebral hemispheres. The corpus callosum, rostrum, and the anterior mid-body sections are larger in adults who stutter as compared to normally fluent adults. This difference may be due to unusual functions of brain organization in stuttering adults and may be a result of how the stuttering adults performed language-relevant tasks. Furthermore, previous research has found that adults who stutter show cerebral hemispheres that contain uncommon brain proportions and allocations of gray and white matter tissue.[41]
### Dopamine[edit]
Main article: Dopamine hypothesis of stuttering
Recent studies have found that adults who stutter have elevated levels of the neurotransmitter dopamine, and have thus found dopamine antagonists that reduce stuttering (see anti-stuttering medication below).[37] Overactivity of the midbrain has been found at the level of the substantia nigra extended to the red nucleus and subthalamic nucleus, which all contribute to the production of dopamine.[31] However, increased dopamine does not imply increased excitatory function since dopamine's effect can be both excitatory or inhibitory depending upon which dopamine receptors (labelled D1 – D5) have been stimulated.
## Diagnosis[edit]
Some characteristics of stuttered speech are not as easy for listeners to detect. As a result, diagnosing stuttering requires the skills of a certified speech-language pathologist (SLP). Diagnosis of stuttering employs information both from direct observation of the individual and information about the individual's background, through a case history.[42] Information from both sources should consider things such as age, the various times it has occurred, and other impediments.[43] The SLP may collect a case history on the individual through a detailed interview or conversation with the parents (if client is a child). They may also observe parent-child interactions and observe the speech patterns of the child's parents.[44] The overall goal of assessment for the SLP will be (1) to determine whether a speech disfluency exists, and (2) assess if its severity warrants concern for further treatment.
During direct observation of the client, the SLP will observe various aspects of the individual's speech behaviors. In particular, the therapist might test for factors including the types of disfluencies present (using a test such as the Disfluency Type Index (DTI)), their frequency and duration (number of iterations, percentage of syllables stuttered (%SS)), and speaking rate (syllables per minute (SPM), words per minute (WPM)). They may also test for naturalness and fluency in speaking (naturalness rating scale (NAT), test of childhood stuttering (TOCS)) and physical concomitants during speech (Riley’s Stuttering Severity Instrument Fourth Edition (SSI-4)).[44] They might also employ a test to evaluate the severity of the stuttering and predictions for its course. One such test includes the stuttering prediction instrument for young children (SPI), which analyzes the child's case history, part-word repetitions and prolongations, and stuttering frequency in order to determine the severity of the disfluency and its prognosis for chronicity for the future.[45]
Stuttering is a multifaceted, complex disorder that can impact an individual's life in a variety of ways. Children and adults are monitored and evaluated for evidence of possible social, psychological or emotional signs of stress related to their disorder. Some common assessments of this type measure factors including: anxiety (Endler multidimensional anxiety scales (EMAS)), attitudes (personal report of communication apprehension (PRCA)), perceptions of self (self-rating of reactions to speech situations (SSRSS)), quality of life (overall assessment of the speaker's experience of stuttering (OASES)), behaviors (older adult self-report (OASR)), and mental health (composite international diagnostic interview (CIDI)).[46]
The SLP will then attempt to combine the information garnered from the client's case study along with the information acquired from the assessments in order to make a final decision regarding the existence of a fluency disorder and determine the best course of treatment for the client.
Stuttering can also be diagnosed per the DSM-5 diagnostic codes[47] by clinical psychologists with adequate expertise. The most recent version of the DSM-5 describes this speech disorder as "Childhood-Onset Fluency Disorder (Stuttering)" for developmental stuttering, and "Adult-onset Fluency Disorder". However, the specific rationale for this change from the DSM-IV is ill-documented in the APA's published literature, and is felt by some to promote confusion between the very different terms "fluency" and "disfluency".
### Normal disfluency[edit]
Main article: Developmental dysfluency
Preschool aged children often have difficulties with speech concerning motor planning and execution; this often manifests as disfluencies related to speech development (referred to as normal dysfluency or "other disfluencies").[48] This type of disfluency is a normal part of speech development and temporarily present in preschool aged children who are learning to speak.[48] These normal disfluencies can present as interjections ("Um"), multisyllabe repetitions ("I want I want to do that") or revised/abandoned utterances ("I want/ hey what's that?").[48] Normal disfluency should be ruled out before diagnosing stuttering.[49]
### Classification[edit]
Developmental stuttering (also known as childhood onset fluency disorder) is stuttering that originates when a child is learning to speak and may persist as the child matures into adulthood. Stuttering that persists after the age of seven is classified as persistent stuttering.[48]
Other much less common causes of stuttering include neurogenic stuttering (stuttering that occurs secondary to brain damage, such as after a stroke) and psychogenic stuttering (stuttering related to a psychological condition).[48]
Other disorders with symptoms resembling stuttering include autism, cluttering, Parkinson's disease, essential tremor, palilalia, spasmodic dysphonia, selective mutism, and social anxiety.
#### Developmental[edit]
Stuttering is typically a developmental disorder beginning in early childhood and continuing into adulthood in at least 20% of affected children.[21][50] The mean onset of stuttering is 30 months.[51] Although there is variability, early stuttering behaviours usually consist of word or syllable repetitions, while secondary behaviours such as tension, avoidance or escape behaviours are absent.[52] Most young children are unaware of the interruptions in their speech.[52] With young stutterers, disfluency may be episodic, and periods of stuttering are followed by periods of relatively decreased disfluency.[53]
Though the rate of early recovery is very high,[21] with time a young person who stutters may transition from easy, relaxed repetition to more tense and effortful stuttering, including blocks and prolongations.[52] Some propose that parental reactions may affect the development of a chronic stutter. Recommendations to "slow down", "take a breath", "say it again", etc., may increase the child's anxiety and fear, leading to more difficulties with speaking and, in the "cycle of stuttering," to yet more fear, anxiety and expectation of stuttering.[54] With time secondary stuttering, including escape behaviours such as eye blinking and lip movements, may be used, as well as fear and avoidance of sounds, words, people, or speaking situations. Eventually, many become fully aware of their disorder and begin to identify themselves as stutterers. With this may come deeper frustration, embarrassment and shame.[55] Other, rarer patterns of stuttering development have been described, including sudden onset with the child being unable to speak, despite attempts to do so.[56] The child usually is unable to utter the first sound of a sentence, and shows high levels of awareness and frustration. Another variety also begins suddenly with frequent word and phrase repetition, and does not include the development of secondary stuttering behaviours.[56]
##### Neurogenic stuttering[edit]
Stuttering is also believed to be caused by neurophysiology. Neurogenic stuttering is a type of fluency disorder in which a person has difficulty in producing speech in a normal, smooth fashion. Individuals with fluency disorders may have speech that sounds fragmented or halting, with frequent interruptions and difficulty producing words without effort or struggle. Neurogenic stuttering typically appears following some sort of injury or disease to the central nervous system. Injuries to the brain and spinal cord, including cortex, subcortex, cerebellar, and even the neural pathway regions.[3]
#### Acquired stuttering[edit]
In rare cases, stuttering may be acquired in adulthood as the result of a neurological event such as a head injury, tumour, stroke, or drug use. The stuttering has different characteristics from its developmental equivalent: it tends to be limited to part-word or sound repetitions, and is associated with a relative lack of anxiety and secondary stuttering behaviors. Techniques such as altered auditory feedback (see below), which may promote decreasing disfluency in those with the developmental condition, are not effective with the acquired type.[21][50][57]
Psychogenic stuttering may also arise after a traumatic experience such as a grief, the breakup of a relationship or as the psychological reaction to physical trauma. Its symptoms tend to be homogeneous: the stuttering is of sudden onset and associated with a significant event, it is constant and uninfluenced by different speaking situations, and there is little awareness or concern shown by the speaker.[58]
## Treatment[edit]
Main article: Stuttering therapy
Before beginning treatment, an assessment is needed, as diagnosing stuttering requires the skills of a certified speech-language pathologist (SLP).[59] While there is no complete cure for stuttering, several treatment options exist that help individuals to better control their speech. Many of the available treatments focus on learning strategies to minimize stuttering through speed reduction, breathing regulation, and gradual progression from single-syllable responses to longer words, and eventually more complex sentences. Furthermore, some stuttering therapies help to address the anxiety that is often caused by stuttering, and consequently worsens stuttering symptoms.[60] This method of treatment is referred to as a comprehensive approach, in which the main emphasis of treatment is directed toward improving the speaker's attitudes toward communication and minimizing the negative impact stuttering can have on the speaker's life.[61] Treatment from a qualified S-LP can benefit stutterers of any age.[62]
Speech language pathologists teach people who stutter to control and monitor the rate at which they speak. In addition, people may learn to start saying words in a slightly slower and less physically tense manner. They may also learn to control or monitor their breathing. When learning to control speech rate, people often begin by practising smooth, fluent speech at rates that are much slower than typical speech, using short phrases and sentences. Over time, people learn to produce smooth speech at faster rates, in longer sentences, and in more challenging situations until speech sounds both fluent and natural. When treating stuttering in children, some researchers recommend that an evaluation be conducted every three months in order to determine whether or not the selected treatment option is working effectively. "Follow-up" or "maintenance" sessions are often necessary after completion of formal intervention to prevent relapse.[63]
### Fluency shaping therapy[edit]
Fluency shaping therapy, also known as "speak more fluently", "prolonged speech", or "connected speech", trains people who stutter to speak less disfluently by controlling their breathing, phonation, and articulation (lips, jaw, and tongue). It is based on operant conditioning techniques.[64]
People who stutter are trained to reduce their speaking rate by stretching vowels and consonants, and using other disfluency-reducing techniques such as continuous airflow and soft speech contacts. The result is very slow, monotonic, but fluent speech, used only in the speech clinic. After the person who stutters masters these skills, the speaking rate and intonation are increased gradually. This more normal-sounding, fluent speech is then transferred to daily life outside the speech clinic, though lack of speech naturalness at the end of treatment remains a frequent criticism. Fluency shaping approaches are often taught in intensive group therapy programs, which may take two to three weeks to complete.
### Modification therapy[edit]
The goal of stuttering modification therapy is not to eliminate stuttering but to modify it so that stuttering is easier and less effortful.[65] The rationale is that since fear and anxiety causes increased stuttering, using easier stuttering and with less fear and avoidance, stuttering will decrease. The most widely known approach was published by Charles Van Riper in 1973 and is also known as block modification therapy.[66] However, depending on the patient, speech therapy may be ineffective.[67]
### Electronic fluency device[edit]
Main article: Electronic fluency device
Altered auditory feedback, so that people who stutter hear their voice differently, has been used for over 50 years in the treatment of stuttering.[68] Altered auditory feedback effect can be produced by speaking in chorus with another person, by blocking out the person who stutters' voice while talking (masking), by delaying slightly the voice of the person who stutters (delayed auditory feedback) or by altering the frequency of the feedback (frequency altered feedback). Studies of these techniques have had mixed results, with some people who stutter showing substantial reductions in stuttering, while others improved only slightly or not at all.[68] In a 2006 review of the efficacy of stuttering treatments, none of the studies on altered auditory feedback met the criteria for experimental quality, such as the presence of control groups.[69]
### Mobile applications[edit]
Stuttering treatment using mobile application
There are specialized mobile applications and PC programs for stutter treatment. The goal pursued by the applications of this kind is speech cycle restoration – I say –>I hear –>I build a phrase –>I say and so on, using various methods of stutter correction.[70]
The user interacts with the application through altered auditory feedback: they say something into the headset's microphone and listen to their own voice in the headphones processed by a certain method.[70]
The following stutter correction methods are typically used in applications:
* MAF (Masking auditory feedback). It is basically masking by “white noise” or sinus noises of the user's own speech. Scientists believe that people who stutter can speak smoother when they do not hear their own speech. This method is considered old-fashioned and ineffective.[71][72][73]
* DAF (Delayed auditory feedback). This method involves sending the user's voice from the microphone to the headphones with a delay of fractions of a second. The goal of this method is to teach people who stutter to drawl vowels and reduce the speech rate. After speech correction with long delays, the application is adjusted at shorter delays which increase the speech rate until it becomes normal.[74][75]
* FAF (Frequency-shifted auditory feedback). This method involves shifting the user's voice tone frequency that they are listening to compared to their own voice. The shift range can be different: from several semitones to half an octave.[76][77][78]
* Using metronomes and tempo correctors. Rhythmic metronome strikes are used in this method. The effectiveness of the method is related to the fact that rhythm has positive effect on someone who stutters, especially when pronouncing slowly.[79]
* Using visual feedback. This method determines the user's speech parameters (for instance, speech tempo) and their representation on screen as visual information. The principal goal of the method is allowing the user to effectively manage their voice through achieving the defined targeted parameters. It is supposed that the user sees visual representation of both current and targeted parameters (such as speech tempo) on the screen while pronouncing.[80][81]
### Medications[edit]
Although no medication is FDA approved for stuttering, several studies have shown certain medications to have beneficial effects on reducing the severity of stuttering symptoms. Although different classes of medications have been investigated, those with dopamine blocking activity have been shown in numerous trials to have positive effects on stuttering. These medications are FDA approved in the United States and hold similar approval in most countries for other conditions and their safety profiles are well established in these disorders.
The best studied medication in stuttering is olanzapine whose effectiveness has been established in replicated trials. Olanzapine acts as a dopamine antagonist to D2 receptors in the mesolimbic pathway, and works similarly on serotonin 5HT2A receptors in the frontal cortex.[82] At doses between 2.5–5 mg, olanzapine has been shown to be more effective than placebo at reducing stuttering symptoms, and may serve as a first-line pharmacological treatment for stuttering based on the preponderance of its efficacy data.[83][84] However, other medications are generally better tolerated with less weight gain and less risk of metabolic effects than olanzapine.
Risperidone and haloperidol have also shown effectiveness in the treatment of stuttering. However, haloperidol in particular often result in poor long-term compliance due to concerning side effects such as movement disorders and prolactin elevation, which can also occur with risperidone.[83][85] Other dopamine active medications reported to positively treat stuttering include aripiprazole, asenapine, lurasidone, which tend to be better tolerated than olanzapine with less weight gain. All these medications as well as olanzapine can carry the potential risk of a long-term movement disorder known as tardive dyskinesia.
The investigational compound, ecopipam is unique from other dopamine antagonists in that it acts on D1 receptors instead of D2, owing little, if any risk, of movement disorders. An open label study of ecopipam in adults demonstrated significantly improved stuttering symptoms with no reports of parkinsonian-like movement disorders or tardive dyskinesia which can be seen with D2 antagonists.[86] In addition, ecopipam had no reported weight gain, but instead has been reported to lead to weight loss.[86] In a preliminary study, it was well tolerated in subjects, effectively reduced stuttering severity, and was even associated in a short-term study with improved quality of life in persons who stutter.[86] Further research is still warranted, but this novel mechanism is showing promise in the pharmacologic treatment of stuttering.
One should always consult with a medical doctor before considering medication treatment of stuttering to review potential risks and benefits.
### Support[edit]
With existing behavioral and prosthetic treatments providing limited relief and pharmacologic treatments in need of FDA approval for widespread use, support groups and the self-help movement continue to gain popularity and support from professionals and from people who stutter. Self-help groups provide people who stutter a shared forum within which they can access resources and support from others facing the same challenges of stuttering.[60] One of the basic tenets behind the self-help movement is that since a cure does not exist, quality of life can be improved by not thinking about the stammer for prolonged periods. Psychoanalysis has claimed success in the treatment of stuttering.[87] Hypnotherapy has also been explored as a management alternative.[88][89][90] Support groups further focus on the fact that stuttering is not a physical impediment but a psychological one.[91]
### Psychological approach[edit]
Cognitive behavior therapy has been used to treat stuttering.[92] Also sociological approaches has been explored regarding how social groups maintain stuttering through social norms.[93]
### Diaphragmatic breathing[edit]
Several treatment initiatives, for example the McGuire programme,[94] and the Starfish Project advocate diaphragmatic breathing (or costal breathing) as a means by which stuttering can be controlled.
## Prognosis[edit]
Among preschoolers with stuttering, the prognosis for recovery is good. Based on research, about 65% to 87.5% of preschoolers who stutter recover spontaneously by 7 years of age or within the first 2 years of stuttering,[48][51][95] and about 74% recover by their early teens.[96] In particular, girls seem to recover well.[96][97] For others, early intervention is effective in helping the child overcome disfluency.[98]
Once stuttering has become established, and the child has developed secondary behaviors, the prognosis is more guarded,[98] and only 18% of children who stutter after five years recover spontaneously.[99] Stuttering that persists after the age of seven is classified as persistent stuttering, and is associated with a much lower chance of recovery.[48] However, with treatment young children may be left with little evidence of stuttering.[98]
For adults who stutter, there is no known cure,[96] though they may make partial recovery or even complete recovery with intervention. People who stutter often learn to stutter less severely, though others may make no progress with therapy.[98]
Emotional sequelae associated with stuttering primarily relates to state-dependent anxiety related to the speech disorder itself. However, this is typically isolated to social contexts that require speaking, is not a trait anxiety, and this anxiety does not persist if stuttering remits spontaneously. Research attempting to correlate stuttering with generalized or state anxiety, personality profiles, trauma history, or decreased IQ have failed to find adequate empirical support for any of these claims.
## Epidemiology[edit]
The lifetime prevalence, or the proportion of individuals expected to stutter at one time in their lives, is about 5%,[100] and overall males are affected two to five times more often than females.[50][101][102] However, there is not much information known about the underlying cause for such a skewed sex ratio.[39] Most stuttering begins in early childhood, and studies suggest that 2.5% of children under the age of 5 stutter.[103][104] As seen in children who have just begun stuttering, there is an equivalent number of boys and girls who stutter. Still, the sex ratio appears to widen as children grow: among preschoolers, boys who stutter outnumber girls who stutter by about a two to one ratio, or less.[102][104] This ratio widens to three to one during first grade, and five to one during fifth grade,[105] as girls have higher recovery rates.[96] Due to high (approximately 65–75%) rates of early recovery,[101][106] the overall prevalence of stuttering is generally considered to be approximately 1%.[50][107]
Cross-cultural studies of stuttering prevalence were very active in early and mid-20th century, particularly under the influence of the works of Wendell Johnson, who claimed that the onset of stuttering was connected to the cultural expectations and the pressure put on young children by anxious parents. Johnson claimed there were cultures where stuttering, and even the word "stutterer", were absent (for example, among some tribes of American Indians). Later studies found that this claim was not supported by the facts, so the influence of cultural factors in stuttering research declined. It is generally accepted by contemporary scholars that stuttering is present in every culture and in every race, although the attitude towards the actual prevalence differs. Some believe stuttering occurs in all cultures and races[22] at similar rates,[50] about 1% of general population (and is about 5% among young children) all around the world. A US-based study indicated that there were no racial or ethnic differences in the incidence of stuttering in preschool children.[103][104] At the same time, there are cross-cultural studies indicating that the difference between cultures may exist. For example, summarizing prevalence studies, E. Cooper and C. Cooper conclude: "On the basis of the data currently available, it appears the prevalence of fluency disorders varies among the cultures of the world, with some indications that the prevalence of fluency disorders labeled as stuttering is higher among black populations than white or Asian populations" (Cooper & Cooper, 1993:197). In his "Stuttering and its Treatment: Eleven lectures" Mark Onslow remarked that "one recent study with many participants (N=119,367)[108] convincingly reported more stuttering among African Americans than other Americans. Why this could be the case is challenging to explain..."[109]
Different regions of the world are researched very unevenly. The largest number of studies has been conducted in European countries and in North America, where the experts agree on the mean estimate to be about 1% of the general population (Bloodtein, 1995. A Handbook on Stuttering). African populations, particularly from West Africa, might have the highest stuttering prevalence in the world—reaching in some populations 5%, 6% and even over 9%.[110] Many regions of the world are not researched sufficiently, and for some major regions there are no prevalence studies at all (for example, in China). Some claim the reason for this might be a lower incidence in the general population in China.[111]
## History[edit]
Lewis Carroll, the well-known author of Alice's Adventures in Wonderland, had a stammer, as did his siblings.
Because of the unusual-sounding speech that is produced and the behaviors and attitudes that accompany a stutter, it has long been a subject of scientific interest and speculation as well as discrimination and ridicule. People who stutter can be traced back centuries to the likes of Demosthenes, who tried to control his disfluency by speaking with pebbles in his mouth.[112] The Talmud interprets Bible passages to indicate Moses was also a person who stuttered, and that placing a burning coal in his mouth had caused him to be "slow and hesitant of speech" (Exodus 4, v.10).[112]
Galen's humoral theories were influential in Europe in the Middle Ages for centuries afterward. In this theory, stuttering was attributed to imbalances of the four bodily humors—yellow bile, blood, black bile, and phlegm. Hieronymus Mercurialis, writing in the sixteenth century, proposed methods to redress the imbalance including changes in diet, reduced libido (in men only), and purging. Believing that fear aggravated stuttering, he suggested techniques to overcome this. Humoral manipulation continued to be a dominant treatment for stuttering until the eighteenth century.[113] Partly due to a perceived lack of intelligence because of his stutter, the man who became the Roman emperor Claudius was initially shunned from the public eye and excluded from public office.[112]
In and around eighteenth and nineteenth century Europe, surgical interventions for stuttering were recommended, including cutting the tongue with scissors, removing a triangular wedge from the posterior tongue, and cutting nerves, or neck and lip muscles. Others recommended shortening the uvula or removing the tonsils. All were abandoned due to the high danger of bleeding to death and their failure to stop stuttering. Less drastically, Jean Marc Gaspard Itard placed a small forked golden plate under the tongue in order to support "weak" muscles.[112]
Notker Balbulus, from a medieval manuscript.
Italian pathologist Giovanni Morgagni attributed stuttering to deviations in the hyoid bone, a conclusion he came to via autopsy.[113] Blessed Notker of St. Gall (c. 840–912), called Balbulus ("The Stutterer") and described by his biographer as being "delicate of body but not of mind, stuttering of tongue but not of intellect, pushing boldly forward in things Divine," was invoked against stammering.
A famous Briton who stammered was King George VI. George VI went through years of speech therapy, most successfully under Australian speech therapist Lionel Logue, for his stammer. This is dealt with in the Academy Award-winning film The King's Speech (2010) in which Colin Firth plays George VI. The film is based on an original screenplay by David Seidler who also used to stutter as a child until age 16.
Another notable case was that of British Prime Minister Winston Churchill. Churchill claimed, perhaps not directly discussing himself, that "[s]ometimes a slight and not unpleasing stammer or impediment has been of some assistance in securing the attention of the audience..."[114] However, those who knew Churchill and commented Archived 2012-01-13 at the Wayback Machine on his stutter believed that it was or had been a significant problem for him. His secretary Phyllis Moir commented that "Winston Churchill was born and grew up with a stutter" in her 1941 book I was Winston Churchill's Private Secretary. She also noted about one incident, "'It’s s-s-simply s-s-splendid,' he stuttered—as he always did when excited." Louis J. Alber, who helped to arrange a lecture tour of the United States, wrote in Volume 55 of The American Mercury (1942) that "Churchill struggled to express his feelings but his stutter caught him in the throat and his face turned purple" and that "born with a stutter and a lisp, both caused in large measure by a defect in his palate, Churchill was at first seriously hampered in his public speaking. It is characteristic of the man’s perseverance that, despite his staggering handicap, he made himself one of the greatest orators of our time."
For centuries "cures" such as consistently drinking water from a snail shell for the rest of one's life, "hitting a stutterer in the face when the weather is cloudy", strengthening the tongue as a muscle, and various herbal remedies were used.[115] Similarly, in the past people have subscribed to theories about the causes of stuttering which today are considered odd. Proposed causes of stuttering have included tickling an infant too much, eating improperly during breastfeeding, allowing an infant to look in the mirror, cutting a child's hair before the child spoke his or her first words, having too small a tongue, or the "work of the devil".[115]
Some people who stutter, who are part of the disability rights movement, have begun to embrace their stuttering voices as an important part of their identity.[116][117] In July 2015 the UK Ministry of Defence announced the launch of the Defence Stammering Network to support and champion the interests of British military personnel and MOD civil servants who stammer and to raise awareness of the condition.[118]
## Society and culture[edit]
See also: Stuttering in popular culture
### Bilingual stuttering[edit]
#### Identification[edit]
Bilingualism is the ability to speak two languages. Many bilingual people have been exposed to more than one language since birth and throughout childhood. Since language and culture are relatively fluid factors in a person's understanding and production of language, bilingualism may be a feature that impacts speech fluency. There are several ways during which stuttering may be noticed in bilingual children including the following.
* The child is mixing vocabulary (code mixing) from both languages in one sentence. This is a normal process that helps the child increase his skills in the weaker language, but may trigger a temporary increase in disfluency.[119]
* The child is having difficulty finding the correct word to express ideas resulting in an increase in normal speech disfluency.[119]
* The child is having difficulty using grammatically complex sentences in one or both languages as compared to other children of the same age. Also, the child may make grammatical mistakes. Developing proficiency in both languages may be gradual, so development may be uneven between the two languages.[119]
* Adding a second or third language between the ages of three and five years of age may cause stuttering to increase (become more severe). However, this may be the case only when: (1) the child's first language is not strong or the child is experiencing difficulties in her first language, (2) One language is used more than the other or, (3) the child resists speaking the additional language.
Stuttering may present differently depending on the languages the individual uses. For example, morphological and other linguistic differences between languages may make presentation of disfluency appear to be more or less of a problem depending on the individual case.[120]
#### Research[edit]
Much research is being conducted to look at the prevalence of stuttering in bilingual populations and the differences between languages. For instance, one study concluded that bilingual children who spoke English and another language had an increased risk of stuttering and a lower chance of recovery from stuttering than monolingual speakers and speakers who spoke solely a language other than English.[121] Another study, though methodologically weak, showed relatively indistinguishable percentages of monolingual and bilingual people who stutter.[122] Due to so much conflicting data, the relationship between bilingualism and stuttering has been called enigmatic,[123] which can demonstrate the intricacies of the topic and encourages more research to be conducted in order to sway the belief of impact the relationship between bilingualism and stuttering has.
## In popular culture[edit]
Jazz and Eurodance musician Scatman John wrote the song "Scatman (Ski Ba Bop Ba Dop Bop)" to help children who stutter overcome adversity. Born John Paul Larkin, Scatman spoke with a stutter himself and won the American Speech-Language-Hearing Association's Annie Glenn Award for outstanding service to the stuttering community.[124]
Arkwright, the main protagonist in the BBC sitcom Open All Hours, had a severe stutter that was used for comic effect.[125]
## See also[edit]
* All India Institute of Speech and Hearing
* American Institute for Stuttering
* Basal ganglia
* British Stammering Association
* DSM-5
* Dyscravia
* European League of Stuttering Associations
* International Stuttering Awareness Day
* Israel Stuttering Association
* Lists of language disorders
* List of stutterers
* Malcolm Fraser (philanthropist)
* Michael Palin Centre for Stammering Children
* National Stuttering Association, United States
* Speech processing
* Stuttering Foundation of America
* The Indian Stammering Association
* Speech-language pathology
* The King's Speech
* Monster Study
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85. ^ Maguire Gerald A., Riley Glyndon D., Franklin David L., Gottschalk Louis A. (2000). "Risperidone for the treatment of stuttering". Journal of Clinical Psychopharmacology. 20 (4): 479–482. doi:10.1097/00004714-200008000-00013. PMID 10917410.CS1 maint: multiple names: authors list (link)
86. ^ a b c Maguire, G.A., Lasalle L., Hoffmeyer D., Nelson M., Lochead J.D., Davis K., Burris A., Yaruss J.S., "Ecopipam as a pharmacologic treatment of stuttering." Ann Clin Psychiatry (2019 Aug), 31(3), 164-168.
87. ^ Messer, Stanley B. (June 1983). "Integrating psychoanalytic and behaviour therapy: Limitations, possibilities and trade-offs". British Journal of Clinical Psychology. 22 (2): 131–132. doi:10.1111/j.2044-8260.1983.tb00587.x. PMID 6871506.
88. ^ McCord, Hallack (1955). "Hypnotherapy and stuttering". Journal of Clinical and Experimental Hypnosis. 3 (4): 210–214. doi:10.1080/00207145508410154.
89. ^ Oakley, D.; Moss, G. (Spring 1996). "Stuttering modification using hypnosis: A case study". Speaking Out. 3 (4): 210–214. doi:10.1080/00207145508410154.
90. ^ Moore, Wilbur E. (June 1946). "Hypnosis in a system of therapy for stutterers". Journal of Speech and Hearing Disorders. 11 (2): 117–122. doi:10.1044/jshd.1102.117. PMID 20986557. Archived from the original on 2013-11-10.
91. ^ Fisher, Martin N. (Winter 1970). "Stuttering: A psychoanalytic view". Journal of Contemporary Psychotherapy. 2 (2): 124–127. doi:10.1007/bf02118180. S2CID 26579399.
92. ^ Reddy, R.P. (Spring 2017). "Cognitive Behavior Therapy for Stuttering: A Case Series". Indian Journal of Psychological Medicine. 2010 jan-jun 32(1) (1): 49–53. doi:10.4103/0253-7176.70533. PMC 3137813. PMID 21799560.
93. ^ "Stuttering Habits". Stuttering Habits. Archived from the original on 2017-04-18.
94. ^ "Stammer School: Musharaf Finds His Voice, Channel 4 | the Arts Desk". Archived from the original on 2014-09-11. Retrieved 2014-09-09.
95. ^ Yairi, E. (1993). "Epidemiologic and other considerations in treatment efficacy research with preschool-age children who stutter". Journal of Fluency Disorders. 18 (2–3): 197–220. doi:10.1016/0094-730X(93)90007-Q.
96. ^ a b c d Ward 2006, p. 16
97. ^ Yairi, E (Fall 2005). "On the Gender Factor in Stuttering". Stuttering Foundation of America Newsletter: 5.
98. ^ a b c d Guitar 2005, p. 7
99. ^ Andrews, G.; Craig, A.; Feyer, A. M.; Hoddinott, S.; Howie, P.; Neilson, M. (1983). "Stuttering: a review of research findings and theories circa 1982". The Journal of Speech and Hearing Disorders. 48 (3): 226–46. doi:10.1044/jshd.4803.226. PMID 6353066.
100. ^ Mansson, H. (2000). "Childhood stuttering: Incidence and development". Journal of Fluency Disorders. 25 (1): 47–57. doi:10.1016/S0094-730X(99)00023-6.
101. ^ a b Yairi, E; Ambrose, N; Cox, N (1996). "Genetics of stuttering: a critical review". Journal of Speech, Language, and Hearing Research. 39 (4): 771–784. doi:10.1044/jshr.3904.771. PMID 8844557.
102. ^ a b Kloth, S; Janssen, P; Kraaimaat, F; Brutten, G (1995). "Speech-motor and linguistic skills of young people who stutter prior to onset". Journal of Fluency Disorders. 20 (2): 157–70. doi:10.1016/0094-730X(94)00022-L. hdl:2066/21168.
103. ^ a b Proctor, A.; Duff, M.; Yairi, E. (2002). "Early childhood stuttering: African Americans and European Americans". ASHA Leader. 4 (15): 102.
104. ^ a b c Yairi, E.; Ambrose, N. (2005). "Early childhood stuttering". Pro-Ed.
105. ^ Guitar 2005, p. 22
106. ^ Yairi, E.; Ambrose, N. G. (1999). "Early childhood stuttering I: persistency and recovery rates". Journal of Speech, Language, and Hearing Research. 42 (5): 1097–112. doi:10.1044/jslhr.4205.1097. PMID 10515508.
107. ^ Craig, A.; Hancock, K.; Tran, Y.; Craig, M.; Peters, K. (2002). "Epidemiology of stuttering in the community across the entire life span". Journal of Speech, Language, and Hearing Research. 45 (6): 1097–105. doi:10.1044/1092-4388(2002/088). PMID 12546480.CS1 maint: multiple names: authors list (link)
108. ^ Boyle C.A., Boulet S., Schieve L.A., Cohen R.A., Blumberg S.J., Yeargin-Allsopp M., Visser S., Kogan M.D. (Jun 2011). "Trends in the prevalence of developmental disabilities in US children, 1997–2008". Pediatrics. 127 (6): 1034–42. doi:10.1542/peds.2010-2989. PMID 21606152. S2CID 21383720.CS1 maint: multiple names: authors list (link)
109. ^ Mark Onslow, "Stuttering and its Treatment: Eleven lectures", 2017, June, pg. 47.
110. ^ Nwokah, E (1988). "The imbalance of stuttering behavior in bilingual speakers". Journal of Fluency Disorders. 13 (5): 357–373. doi:10.1016/0094-730X(88)90004-6.
111. ^ Sheree Reese, Joseph Jordania (2001). "Stuttering in the Chinese population in some Southeast Asian countries: A preliminary investigation on attitude and incidence". "Stuttering Awareness Day"; Minnesota State University, Mankato. Archived from the original on 2011-06-06.
112. ^ a b c d Brosch, S; Pirsig, W. (2001). "Stuttering in history and culture". Int. J. Pediatr. Otorhinolaryngol. 59 (2): 81–7. doi:10.1016/S0165-5876(01)00474-8. PMID 11378182.
113. ^ a b Rieber, RW; Wollock, J (1977). "The historical roots of the theory and therapy of stuttering". Journal of Communication Disorders. 10 (1–2): 3–24. doi:10.1016/0021-9924(77)90009-0. PMID 325028.
114. ^ "Churchill: A Study in Oratory". The Churchill Centre. Archived from the original on 2005-04-19. Retrieved 2005-04-05.
115. ^ a b Kuster, Judith Maginnis (2005-04-01). "Folk Myths About Stuttering". Minnesota State University. Archived from the original on 2005-04-19. Retrieved 2005-04-03.
116. ^ "Did I Stutter?". Did I Stutter?. Archived from the original on 2015-10-06. Retrieved 2015-10-05.
117. ^ "How To Stutter More". stuttermore.tumblr.com. Archived from the original on 2015-10-29. Retrieved 2015-10-05.
118. ^ "Defence Stammering Network launched". Archived from the original on 2015-08-25. Retrieved 2015-07-25.
119. ^ a b c "Stuttering and the Bilingual Child". Stuttering Foundation: A Nonprofit Organization Helping Those Who Stutter. Archived from the original on 2017-09-26. Retrieved 2017-12-18.
120. ^ Howell, Peter; Borsel, John Van (2011). Multilingual Aspects of Fluency Disorders. Multilingual Matters. ISBN 9781847693587.
121. ^ Howell, P; Davis, S; Williams, R (January 2009). "The effects of bilingualism on stuttering during late childhood". Archives of Disease in Childhood. 94 (1): 42–46. doi:10.1136/adc.2007.134114. ISSN 0003-9888. PMC 2597689. PMID 18782846.
122. ^ Au-Yeung, James; Howell, Peter; Davis, Steve; Charles, Nicole; Sackin, Stevie (2000-09-01). "UCL survey of bilingualism and stuttering". Journal of Fluency Disorders - J FLUENCY DISORD. 25 (3): 246. doi:10.1016/S0094-730X(00)80321-6. Archived from the original on 2017-12-23.
123. ^ Rachel Karniol (1992-10-01). "Stuttering out of bilingualism". First Language. 12 (36): 255–283. doi:10.1177/014272379201203604. ISSN 0142-7237. S2CID 144798976.
124. ^ Awards and Recognition Archived 2008-12-05 at the Wayback Machine. Retrieved 2009-12-10.
125. ^ Behrens, David (25 July 2020). "Where Arkwright in Open All Hours found his signature stutter". Yorkshire Post. Retrieved 23 September 2020.
## References[edit]
* Guitar, Barry (2005). Stuttering: An Integrated Approach to Its Nature and Treatment. San Diego: Lippincott Williams & Wilkins. ISBN 978-0-7817-3920-7.
* Kalinowski, JS; Saltuklaroglu, T (2006). Stuttering. San Diego: Plural Publishing. ISBN 978-1-59756-011-5.
* Ward, David (2006). Stuttering and Cluttering: Frameworks for understanding treatment. Hove and New York City: Psychology Press. ISBN 978-1-84169-334-7.
## Further reading[edit]
* Alm, Per A (2004). "Stuttering and the basal ganglia circuits: a critical review of possible relations" (PDF). Journal of Communication Disorders. 37 (4): 325–69. doi:10.1016/j.jcomdis.2004.03.001. PMID 15159193.[permanent dead link]
* Alm, Per A. (2005). On the Causal Mechanisms of Stuttering. Doctoral dissertation, Dept. of Clinical Neuroscience, Lund University, Sweden.
* Compton DG (1993). Stammering : its nature, history, causes and cures. Hodder & Stoughton. ISBN 978-0-340-56274-1.
* Conture, Edward G (1990). Stuttering. Prentice Hall. ISBN 978-0-13-853631-2.
* Fraser, Jane (2005). If Your Child Stutters: A Guide for Parents. Stuttering Foundation of America. ISBN 978-0-933388-44-4.
* Mondlin, M., How My Stuttering Ended [Case Study, Judith M. Kuster, Minnesota State University, Mankato] http://www.mnsu.edu/comdis/kuster/casestudy/path/mondlin.html
* Logan, Kenneth J. (2015). Fluency Disorders. Plural Publishing. ISBN 978-1-59756-407-6.
* Raz, Mirla G. (2014). Preschool Stuttering: What Parents Can Do. GerstenWeitz Publishers. ISBN 9780963542625.
* Rockey, D., Speech Disorder in Nineteenth Century Britain: The History of Stuttering, Croom Helm, (London), 1980. ISBN 0-85664-809-4
* Goldmark, Daniel. "Stuttering in American Popular Song, 1890–1930." In Lerner, Neil (2006). Sounding Off: Theorizing Disability in Music. New York, London: Routledge. pp. 91–105. ISBN 978-0-415-97906-1.
* Howell, Peter (2011). Recovery from Stuttering. New York: Psychology Press. ISBN 978-1136941054.
## External links[edit]
* National Health Institute
* American Speech-Language-Hearing association
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Look up stammering or stuttering in Wiktionary, the free dictionary.
* Stuttering at Curlie
Classification
D
* ICD-10: F98.5
* ICD-9-CM: 307.0
* OMIM: 184450 609261
* MeSH: D013342
External resources
* MedlinePlus: 001427
* v
* t
* e
Stuttering (also called Stammering)
Therapy
Organizations
* American Institute for Stuttering
* British Stammering Association
* European League of Stuttering Associations
* Indian Stammering Association
* International Stuttering Association
* Israel Stuttering Association
* McGuire Programme
* Michael Palin Centre for Stammering Children
* National Stuttering Association
* Stuttering Center of Western Pennsylvania
* Stuttering Foundation of America
Other
* Delayed Auditory Feedback
* Electronic fluency device
* International Stuttering Awareness Day
* National Stuttering Awareness Week
* The Monster Study
Popular culture
* A Fish Called Wanda
* Attention bandits!
* The Case of the Stuttering Bishop
* "K-K-K-Katy"
* The King's Speech
* "My Generation"
* "Scatman (Ski-Ba-Bop-Ba-Dop-Bop)"
* "Stutter"
* Rocket Science
* Stutterer
* Su.. Su... Sudhi Vathmeekam
List of stutterers
* v
* t
* e
Emotional and behavioral disorders
Emotional/behavioral
* ADHD
* Conduct disorder
* Oppositional defiant disorder
* Emotional/behavioral disorder (EBD)
* Separation anxiety
* Social functioning
* Selective mutism
* RAD
* DAD
* Tic disorders
* Tourette syndrome
* Speech disorders
* Stuttering
* Cluttering
* Stereotypic movement disorder
* Elimination disorders
* Enuresis
* Encopresis
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Stuttering
|
c0038506
| 28,064 |
wikipedia
|
https://en.wikipedia.org/wiki/Stuttering
| 2021-01-18T18:59:06 |
{"mesh": ["D013342"], "umls": ["C0038131", "C0751527", "C0751529", "C0751528", "C0454542", "C0038506", "C3489627"], "icd-10": ["F98.5"], "wikidata": ["Q186676"]}
|
For the view that God is composed of parts, see divine simplicity.
Armpits, breasts, buttocks, navels, hands, hair, and feet are common partialisms.
Partialism is sexual interest with an exclusive focus on a specific part of the body other than genitals.[1][2][3] Partialism is categorized as a fetishistic disorder in the DSM-5 of the American Psychiatric Association only if it causes significant psychosocial distress for the person or has detrimental effects on important areas of their life. In the DSM-IV, it was considered a separate paraphilia (not otherwise specified), but was merged into fetishistic disorder by the DSM-5.[1] Individuals who exhibit partialism sometimes describe the anatomy of interest to them as having equal or greater erotic attraction for them as do the genitals.[4]
Partialism occurs in heterosexual, bisexual, and homosexual individuals.[5][6] The foot is considered one of the most common partialisms.[7][8]
## Types[edit]
The following are some of the partialisms commonly found among people:[2][7][9][10][11]
Formal name Common name Source of arousal
Podophilia Foot fetish Foot
Oculophilia Eye fetish Eye
Maschalagnia Armpit fetish Armpits
Mazophilia Breast fetish Breasts
Pygophilia Buttocks fetish Buttocks
Nasophilia Nose fetish Nose
Trichophilia Hair fetish Hair
Alvinophilia Navel/Belly button fetish Navel
Alvinolagnia Belly/Stomach fetish Belly
Cheirophilia Hand fetish Hands
Crurophilia Leg fetish Legs
## See also[edit]
* Erogenous zone
* Body worship
* List of paraphilias
* Sexual fetishism
## References[edit]
1. ^ a b American Psychiatric Association (2013). Diagnostic and Statistical Manual of Mental Disorders American Psychiatric Association (5th ed.). Arlington: American Psychiatric Publishing. pp. 700–701. ISBN 978-0890425558.
2. ^ a b Edlin, Gordon; Golanty, Eric (2011). Human Sexuality: The Basics. Jones & Bartlett Publishers. ISBN 9780763736521. Retrieved 14 March 2013.
3. ^ Milner, J. S., & Dopke, C. A. (1997). Paraphilia Not Otherwise Specified: Psychopathology and theory. In D. R. Laws and W. O'Donohue (Eds.), Sexual deviance: Theory, assessment, and treatment. New York: Guilford.
4. ^ Kunjukrishnan, R., Pawlak, A., & Varan, L R. (1988). The clinical and forensic psychiatric issues of retifism. Canadian Journal of Psychiatry, 33, 819–825.
5. ^ Weinberg, M. S., Williams, C. J., & Calhan, C. (1994). Homosexual foot fetishism. Archives of Sexual Behavior, 23, 611–626.
6. ^ Weinberg, M. S., Williams, C. J., & Calhan, C. (1995). "If the shoe fits...": Exploring male homosexual foot fetishism. The Journal of Sex Research, 32, 17–27.
7. ^ a b "Exploring those secret turn-ons - Get your freak on!". Jamaica-gleaner.com. 31 May 2008. Archived from the original on 17 June 2013. Retrieved 14 March 2013.
8. ^ Bering, Jesse. "Partial for Protuberant: The Man Who Was Into 'Outies'". Scientific American. Retrieved 4 August 2013.
9. ^ SPECIFIC BODY PART FETISH Archived 2012-04-26 at the Wayback Machine
10. ^ "Archived copy". Archived from the original on 26 April 2012. Retrieved 4 January 2012.CS1 maint: archived copy as title (link)
11. ^ Aggrawal, Anil (2009). Forensic and medico-legal aspects of sexual crimes and unusual sexual practices. Boca Raton, Florida: CRC Press. p. 121. ISBN 978-1420043099. Retrieved 6 July 2014.
* v
* t
* e
Paraphilias
List
* Abasiophilia
* Acrotomophilia
* Agalmatophilia
* Algolagnia
* Apotemnophilia
* Autassassinophilia
* Biastophilia
* Capnolagnia
* Chremastistophilia
* Chronophilia
* Coprophagia
* Coprophilia
* Crurophilia
* Crush fetish
* Dacryphilia
* Dendrophilia
* Emetophilia
* Eproctophilia
* Erotic asphyxiation
* Erotic hypnosis
* Erotophonophilia
* Exhibitionism
* Formicophilia
* Frotteurism
* Gerontophilia
* Homeovestism
* Hybristophilia
* Infantophilia
* Kleptolagnia
* Klismaphilia
* Lactaphilia
* Macrophilia
* Masochism
* Mechanophilia
* Microphilia
* Narratophilia
* Nasophilia
* Necrophilia
* Object sexuality
* Odaxelagnia
* Olfactophilia
* Omorashi
* Paraphilic infantilism
* Partialism
* Pedophilia
* Podophilia
* Plushophilia
* Pyrophilia
* Sadism
* Salirophilia
* Scopophilia
* Somnophilia
* Sthenolagnia
* Tamakeri
* Telephone scatologia
* Transvestic fetishism
* Trichophilia
* Troilism
* Urolagnia
* Urophagia
* Vorarephilia
* Voyeurism
* Zoophilia
* Zoosadism
See also
* Other specified paraphilic disorder
* Erotic target location error
* Courtship disorder
* Polymorphous perversity
* Sexual fetishism
* Human sexual activity
* Perversion
* Sexology
* Book
* Category
* v
* t
* e
Sexual fetishism
Actions, states
* Aquaphilia
* Autassassinophilia
* Coprophilia
* Cuckold / Cuckquean
* Emetophilia
* Erotic hypnosis
* Erotic lactation
* Erotic spanking
* Exhibitionism
* Forced seduction
* Gaining and feeding
* Medical fetishism
* Omorashi
* Paraphilic infantilism (adult baby)
* Pregnancy
* Smoking
* Tickling
* Total enclosure
* Transvestic
* Tightlacing
* Tamakeri
* Urolagnia
* Vorarephilia
* Wet and messy fetishism
Body parts
* Armpit
* Breast
* Belly
* Buttocks
* Eyeball
* Fat
* Feet
* Hands
* Height
* Hair
* Legs
* Navels
* Noses
Clothing
* Boots
* Ballet boots
* Boot worship
* Thigh-high boots
* Clothing
* Corset
* Diapers
* Gloves
* Pantyhose
* Latex
* Rubber and PVC
* Shoes
* Spandex
* Underwear
* Uniforms
Objects
* Balloons
* Dolls
* Latex and PVC
* Robots
* Spandex
Controversial / illegal
* Lust murder
* Necrophilia
* Rape fantasy
* Zoophilia
Culture / media
* Artists
* Fetish art
* Fetish clubs
* Fashion
* Magazines
* Models
Race
* Asian sexual fetishism
* Ethnic pornography
* Sexual racism
Related topics
* BDSM
* FetLife
* International Fetish Day
* Kink
* Leather subculture
* Leather Pride flag
* Sexual roleplay
* Book
* Category
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Partialism
|
c0270526
| 28,065 |
wikipedia
|
https://en.wikipedia.org/wiki/Partialism
| 2021-01-18T18:31:37 |
{"wikidata": ["Q3366838"]}
|
A number sign (#) is used with this entry because of evidence that autosomal dominant spinocerebellar ataxia-35 (SCA35) is caused by heterozygous mutation in the TGM6 gene (613900) on chromosome 20p13.
For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).
Description
Spinocerebellar ataxia-35 is an autosomal dominant adult-onset neurologic disorder characterized by difficulty walking due to cerebellar ataxia. The age at onset ranges from teenage years to late adulthood, and the disorder is slowly progressive. Additional features may include hand tremor, dysarthria, hyperreflexia, and saccadic eye movements (summary by Guo et al., 2014).
Clinical Features
Wang et al. (2010) reported a 4-generation Chinese family in which 9 individuals developed spinocerebellar ataxia with a mean age at onset of 43.9 years (range, 40 to 48 years). Early features included walking difficulty, ataxia, and cerebellar dysarthria, while upper limb involvement with incoordination occurred later. There was slow progression, and most needed a walking aid or became wheelchair-dependent after about 10 years. Additional features included tremor, hyperreflexia, extensor plantar responses, torticollis, ocular dysmetria, and position sense defects. None of the patients had nystagmus, ophthalmoplegia, peripheral neuropathy, or cognitive decline. Two sisters from a second unrelated Chinese family had a similar disorder.
Li et al. (2013) reported a 3-generation Chinese family in which 7 individuals had spinocerebellar ataxia. The proband was a 53-year-old woman who reported unsteady gait and frequent falls since her early teenage years. As an adult, she showed cerebellar ataxia with intention tremor and dysmetria, and pyramidal signs with hyperreflexia and extensor plantar responses. She used crutches for walking. Her deceased father was apparently affected, and she had 2 similarly affected sisters, one of whom was wheelchair-bound. Her son, who was also affected, had mild mental retardation with delayed speech. The disorder was slowly progressive.
Guo et al. (2014) reported 4 patients from 3 Han Chinese families with SCA35. Clinical features included limb ataxia, gait ataxia, hyperreflexia, dysarthria, hand tremor, and saccadic pursuit. The age at onset was highly variable, ranging from 15 to 56 years, and the disorder was slowly progressive. One patient had cognitive decline. Brain imaging showed cerebellar atrophy.
Inheritance
The transmission pattern of SCA35 in the families reported by Wang et al. (2010) was consistent with autosomal dominant inheritance.
Mapping
By genomewide linkage analysis of a large Chinese family with autosomal dominant SCA, Wang et al. (2010) identified an 8.5-Mb locus on chromosome 20p13-p12.2 (maximum 2-point lod score of 5.36 at D20S437).
Molecular Genetics
By exome sequencing in affected members of a large Chinese family with SCA35, Wang et al. (2010) identified a heterozygous mutation in the TGM6 gene (L517W; 613900.0001). A second unrelated Chinese family with SCA35 was found to carry a different heterozygous mutation in the TGM6 gene (D327G; 613900.0002).
By exome sequencing, Li et al. (2013) identified a heterozygous mutation in the TGM6 gene (D510H; 613900.0003) in affected members of a Chinese family with SCA35.
In affected members of 3 Han Chinese families with SCA35, Guo et al. (2014) identified 3 different heterozygous mutations in the TGM6 gene (613900.0003-613900.0005). In vitro functional expression studies in HEK293 cells showed that the mutant proteins were unstable and had decreased activity compared to wildtype. The 3 families with SCA35 accounted for 0.6% of 512 Han Chinese families with SCA who underwent genetic analysis.
INHERITANCE \- Autosomal dominant HEAD & NECK Eyes \- Ocular dysmetria \- Saccadic slowing Neck \- Torticollis (rare) \- Neck muscle weakness (rare) NEUROLOGIC Central Nervous System \- Ataxia, cerebellar (upper and lower limbs affected) \- Difficulty walking \- Incoordination \- Dysarthria \- Intention tremor \- Dysmetria \- Pyramidal signs \- Hyperreflexia \- Extensor plantar responses (variable) \- Brain MRI shows cerebellar atrophy MISCELLANEOUS \- Variable age at onset (range teenage to adult years) \- Slowly progressive MOLECULAR BASIS \- Caused by mutation in the transglutaminase 6 gene (TGM6, 613900.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
SPINOCEREBELLAR ATAXIA 35
|
c3888031
| 28,066 |
omim
|
https://www.omim.org/entry/613908
| 2019-09-22T15:57:03 |
{"doid": ["0050982"], "omim": ["613908"], "orphanet": ["276193"], "synonyms": ["SCA35"]}
|
Sexual interest focused on female breasts
As a paraphilia, breast fetishism (also known as mastofact, breast partialism, or mazophilia)[1] is a highly atypical sexual interest consisting of an exclusive focus on female breasts, which is a type of partialism.[2] The term breast fetishism is also used in the non-paraphilic sense, to refer to cultural attention to female breasts and the sexuality they represent.
Scientists hypothesize that non-paraphilic sexual attraction to breasts is the result of their function as a secondary sex characteristic. The breasts play roles in both sexual pleasure and reproduction.[3]
Some authors have discussed the modern widespread fascination with breasts among heterosexual males in Western societies, especially in the United States, within the context of sexual fetishism.[4][5][6]
## Contents
* 1 Scientific explanation
* 2 Society and culture
* 2.1 General
* 2.2 Alternative opinions
* 3 See also
* 4 References
* 5 Further reading
## Scientific explanation[edit]
Scientists hypothesize that non-paraphilic sexual attraction to breasts is the result of their function as a secondary sex characteristic. The breasts play roles in both sexual pleasure and reproduction.[3] Men typically find female breasts attractive[7] and this holds true for a variety of cultures.[8][9][10]
Zoologist and ethologist Desmond Morris theorizes that cleavage is a sexual signal that imitates the image of the cleft between the buttocks, which according to Morris in The Naked Ape is also unique to humans, other primates as a rule having much flatter buttocks.[11] Evolutionary psychologists theorize that humans' permanently enlarged breasts, in contrast to other primates' breasts, which only enlarge during ovulation, allows human females to "solicit [human] male attention and investment even when they are not really fertile".[12]
Sexual attraction to breasts is considered normal unless it is exclusive and is therefore a form of partialism.[2]
## Society and culture[edit]
### General[edit]
There is a widespread fascination with women's breasts, and especially their size.[13] Many people, both male and female, consider breasts an important female secondary sex characteristic.[14]
Modern female fashions which focus on tight clothing and the display of cleavage have been attributed to an increase in breast fetishism.[15] Display of cleavage with a low neckline is often regarded as a form of feminine flirting or seduction, as well as aesthetic or erotic. Most men derive erotic pleasure from seeing a woman's breasts,[16] and some people derive pleasure in their female partner exposing cleavage. When cleavage is enhanced with a push-up bra or exposed by a low neckline it may draw attention.[17] There are differences of opinion as to how much cleavage exposure is acceptable in public.[18] The extent to which a woman may expose her breasts depends on social and cultural context. Displaying cleavage or any part of female breast may be considered inappropriate or even prohibited by dress codes in some settings, such as workplaces, churches, and schools, while in some spaces showing as much cleavage as possible can be permissible or even encouraged. The exposure of nipples or areolae is almost always considered toplessness, considered by some to be immodest and in some instances as lewd or indecent behavior.[19] Art historian James Laver argued that the changing standards of revealing cleavage is more prominent in evening wear than in day wear in the Western world.[20]
Film producers such as Russ Meyer produced films which featured actresses with large breasts. Lorna (1964) was the first of his films where the main female part, played by Lorna Maitland, was selected on the basis of breast size. Other large breasted actresses used by Meyer include Kitten Natividad, Erica Gavin, Tura Satana, and Uschi Digard among many others. The majority of them were naturally large breasted and he occasionally cast women in their first trimesters of pregnancy to enhance their breast size even further.[21] Author and director William Rotsler said: "with Lorna Meyer established the formula that made him rich and famous, the formula of people filmed at top hate, top lust, top heavy."[22]
With regard to pornography, according to statistics from the websites Pornhub and YouPorn, preference for either breasts or the buttocks varies between countries and, on average, between world regions; the United States and most of Latin America and Africa is in the buttocks group, and most of Europe and much of Asia is in the breasts group.[23]
### Alternative opinions[edit]
The term breast fetishism is also used within ethnographic and feminist contexts to describe a society with a culture devoted to breasts, usually as sexual objects.[15][24] Some feminists have argued that incidences of breast fetishism have been found going back to the neolithic era, with the goddess shrines of Catal Huyuk (in modern Turkey). The archaeological excavations of the town in c. 1960 revealed the walls of the shrine(s) adorned with disembodied pairs of breasts that appeared to have "an existence of their own". Elizabeth Gould Davis argues that breasts (along with phalluses) were revered by the women of Catal Huyuk as instruments of motherhood, but it was after what she describes as a patriarchal revolution – when men had appropriated both phallus worship and "the breast fetish" for themselves – that these organs "acquired the erotic significance with which they are now endowed".[25]
Some authors from the United States have discussed attraction to female breasts within the context of sexual fetishism, and have stated that it is the American fetish-object of choice,[4] or that breast fetishism is predominantly found in the United States.[26][27][28]
## See also[edit]
* Human sexuality portal
* Bakunyū
* Breast augmentation
* Breast bondage
* Breast torture
* Erotic lactation
* Mammary intercourse
* Toplessness
## References[edit]
1. ^ Hickey, Eric W. (2003). Encyclopaedia of Murder and Violent Crime. Sage Publications Inc. ISBN 0-7619-2437-X
2. ^ a b Association, American Psychiatric (2013). Diagnostic and Statistical Manual of Mental Disorders American Psychiatric Association - 5th edition (5th ed.). Arlington: American Psychiatric Publishing. p. 701. ISBN 978-0890425558.
3. ^ a b Lehmiller, Justin (2018). The Psychology of Human Sexuality (Second ed.). John Wiley & Sons Ltd. p. 74–75. ISBN 9781119164739.
4. ^ a b Pornography and Sexual Representation: A Reference Guide (2000) by Slade, Joseph W. Greenwood Publishing Group. ISBN 978-0-313-31520-6, p. 402.
5. ^ Miller, Laura. (2006). Beauty Up: Exploring Contemporary Japanese Body Aesthetics. p. 74. University of California Press. ISBN 978-0-520-24509-9
6. ^ Latteier 1998
7. ^ Buss, David (2019). "Men's Long-Term Mating Strategies". Evolutionary Psychology: The New Science of the Mind (Sixth ed.). Routledge. ISBN 9780429590061.
8. ^ Jan Havlíček, Vít Třebický, Jaroslava Varella Valentova, Karel Kleisner, Robert Mbe Akoko, Jitka Fialová, Rosina Jash, Tomáš Kočnar, Kamila Janaina Pereira, Zuzana Štěrbová, Marco Antonio Correa Varella, Jana Vokurková, Ernest Vunan, S Craig Roberts (2017). "Men's preferences for women's breast size and shape in four cultures" (PDF). Evolution and Human Behavior. 38 (2): 217–226. doi:10.1016/j.evolhumbehav.2016.10.002. hdl:1893/24421.CS1 maint: uses authors parameter (link)
9. ^ Barnaby J Dixson, Paul L Vasey, Katayo Sagata, Nokuthaba Sibanda, Wayne L Linklater, Alan F Dixson (2011). "Men's preferences for women's breast morphology in New Zealand, Samoa, and Papua New Guinea". Archives of Sexual Behavior. 40 (6): 1271–1279. doi:10.1007/s10508-010-9680-6. PMID 20862533. S2CID 34125295.CS1 maint: uses authors parameter (link)
10. ^ Frank W. Marlowe (2004). "Mate preferences among Hadza hunter-gatherers" (PDF). Human Nature. 15 (4): 365–376. doi:10.1007/s12110-004-1014-8. PMID 26189412. S2CID 9584357.
11. ^ Desmond Morris. Manwatching. A Field Guide to Human Behavior.. New York: Harry N. Abrams, Inc., 1977. ISBN 0-8109-1310-0.
12. ^ Crawford, Charles; Krebs, Dennis (1998), "How Mate Choice Shaped Human Nature", Handbook of evolutionary psychology : ideas, issues, and applications, Lawrence Erlbaum Associates, ISBN 9780805816662
13. ^ Yeung, Peter. "The female artists reclaiming their bodies". Dazed. Archived from the original on 10 August 2017. Retrieved 20 November 2014. "The fetishisation of womens’ bodies and their regular reduction to breasts is something that New York artist Cindy Hinant is acutely aware of"
14. ^ secondary sex characteristics Archived 2011-09-27 at the Wayback Machine
15. ^ a b Glazier & Flowerday 2003, p. 58
16. ^ Kinsey, Alfred C. et al. Sexual Behavior in the Human Male. Saunders, 1948.
17. ^ Dr. Ted Eisenberg and Joyce K. Eisenberg, The Scoop on Breasts: A Plastic Surgeon Busts the Myths, Incompra Press, 2012, ISBN 9780985724931
18. ^ Salmansohn, Karen (October 29, 2007). "The Power of Cleavage". The Huffington Post.
19. ^ D. Leder, The Body in Medical Thought and Practice, page 223, Springer Science & Business Media, 1992, ISBN 9780792316572
20. ^ Carter, Michael Fashion classics from Carlyle to Barthes, page 732, Berg Publishers, 2003, ISBN 1-85973-606-8
21. ^ Meyer, Russ (2000). A Clean Breast: The Life and Loves of Russ Meyer (3 volume set). (Under the pseudonym "Adolph Albion Schwartz"). El Rio, TX: Hauck Pub Co. ISBN 978-0-9621797-2-3.
22. ^ McDonough, Jimmy (2005). Big bosoms and square jaws : the biography of Russ Meyer, king of the sex film. London: Jonathan Cape. ISBN 978-0-224-07250-2., p.138
23. ^ Dickson, E. J. "America prefers butts to boobs, says Pornhub study". thedailydot.com. The Daily Dot. Retrieved 17 October 2019.
24. ^ Evans, Phil. (1989). Motivation and Emotion. Routledge. ISBN 0-415-01475-1, p. 34.
25. ^ The First Sex: The Breast Fetish (1971) by Davis, Elizabeth Gould. Penguin Books, p. 105.
26. ^ Morrison, D. E., & Holden, C. P. (1971). "The Burning Bra: The American Breast Fetish and Women's Liberation". In Deviance and Change, Manning, P.K. ed., Englewood Cliffs, N. J.: Prentice Hall.
27. ^ Miller, Laura. (2006). Beauty Up: Exploring Contemporary Japanese Body Aesthetics. p. 74. University of California Press. ISBN 978-0-520-24509-9
28. ^ Latteier 1998
## Further reading[edit]
* Block, Susan (2004). "Covering Justice: Ashcroft's Breast Fetish". In Cockburn, Alexander; St Clair, Jeffrey (eds.). Serpents in the garden : liaisons with culture & sex. CounterPunch. ISBN 9781902593944.
* Carey, Kimberly (1997-05-25). "Breast Enlargement Fantasy a Big Burden to Bear". Chicago Tribune. p. 6. ProQuest 418377452.
* Davis, Elizabeth Gould (1971). The First Sex: The Breast Fetish. New York, Putnam. OCLC 206443.
* Draitser, Emil. (1999). Making war, not love: gender and sexuality in Russian humour. The Breast Fetish (pg. 29). Palgrave Macmillan. ISBN 0-312-22129-0.
* Glazier, Stephen D.; Flowerday, Charles (2003). Selected Readings in the Anthropology of Religion: Theoretical and Methodological Essays. Greenwood Publishing Group. ISBN 9780313300905.
* Latteier, Carolyn (1998). Breasts: The Women's Perspective on an American Obsession. Haworth Press. ISBN 9780789004222.
* Moreck, Curt. (1965). Breast fetishism. International Press of Sexology. ASIN B0007HAEES
* Morrison, D. E., and C. P. Holden. (1971). The Burning Bra: The American Breast Fetish and Women's Liberation. In Deviance and Change, ed. P.K. Manning. Englewood Cliffs, N. J.: Prentice Hall.
* Slade, Joseph W. (2000). Pornography and Sexual Representation: A Reference Guide. Greenwood Publishing Group. ISBN 0-313-31520-5
* Yalom, Marilyn. 1997. A History of the Breast. pub. Knopf. ISBN 0-679-43459-3.
Look up mastofact or mazophilia in Wiktionary, the free dictionary.
* v
* t
* e
Paraphilias
List
* Abasiophilia
* Acrotomophilia
* Agalmatophilia
* Algolagnia
* Apotemnophilia
* Autassassinophilia
* Biastophilia
* Capnolagnia
* Chremastistophilia
* Chronophilia
* Coprophagia
* Coprophilia
* Crurophilia
* Crush fetish
* Dacryphilia
* Dendrophilia
* Emetophilia
* Eproctophilia
* Erotic asphyxiation
* Erotic hypnosis
* Erotophonophilia
* Exhibitionism
* Formicophilia
* Frotteurism
* Gerontophilia
* Homeovestism
* Hybristophilia
* Infantophilia
* Kleptolagnia
* Klismaphilia
* Lactaphilia
* Macrophilia
* Masochism
* Mechanophilia
* Microphilia
* Narratophilia
* Nasophilia
* Necrophilia
* Object sexuality
* Odaxelagnia
* Olfactophilia
* Omorashi
* Paraphilic infantilism
* Partialism
* Pedophilia
* Podophilia
* Plushophilia
* Pyrophilia
* Sadism
* Salirophilia
* Scopophilia
* Somnophilia
* Sthenolagnia
* Tamakeri
* Telephone scatologia
* Transvestic fetishism
* Trichophilia
* Troilism
* Urolagnia
* Urophagia
* Vorarephilia
* Voyeurism
* Zoophilia
* Zoosadism
See also
* Other specified paraphilic disorder
* Erotic target location error
* Courtship disorder
* Polymorphous perversity
* Sexual fetishism
* Human sexual activity
* Perversion
* Sexology
* Book
* Category
* v
* t
* e
Sexual fetishism
Actions, states
* Aquaphilia
* Autassassinophilia
* Coprophilia
* Cuckold / Cuckquean
* Emetophilia
* Erotic hypnosis
* Erotic lactation
* Erotic spanking
* Exhibitionism
* Forced seduction
* Gaining and feeding
* Medical fetishism
* Omorashi
* Paraphilic infantilism (adult baby)
* Pregnancy
* Smoking
* Tickling
* Total enclosure
* Transvestic
* Tightlacing
* Tamakeri
* Urolagnia
* Vorarephilia
* Wet and messy fetishism
Body parts
* Armpit
* Breast
* Belly
* Buttocks
* Eyeball
* Fat
* Feet
* Hands
* Height
* Hair
* Legs
* Navels
* Noses
Clothing
* Boots
* Ballet boots
* Boot worship
* Thigh-high boots
* Clothing
* Corset
* Diapers
* Gloves
* Pantyhose
* Latex
* Rubber and PVC
* Shoes
* Spandex
* Underwear
* Uniforms
Objects
* Balloons
* Dolls
* Latex and PVC
* Robots
* Spandex
Controversial / illegal
* Lust murder
* Necrophilia
* Rape fantasy
* Zoophilia
Culture / media
* Artists
* Fetish art
* Fetish clubs
* Fashion
* Magazines
* Models
Race
* Asian sexual fetishism
* Ethnic pornography
* Sexual racism
Related topics
* BDSM
* FetLife
* International Fetish Day
* Kink
* Leather subculture
* Leather Pride flag
* Sexual roleplay
* Book
* Category
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Breast fetishism
|
None
| 28,067 |
wikipedia
|
https://en.wikipedia.org/wiki/Breast_fetishism
| 2021-01-18T18:34:50 |
{"wikidata": ["Q2651749"]}
|
A congenital non-syndromic heart malformation characratized by an accessory mitral valve leaflet or various accessory mitral valve structures. It may be asymptomatic or present at various ages with symptoms of left ventricular outflow tract obstruction, low cardiac output due to subaortic obstruction or congestive heart failure. In some cases, it may be a source of cardioembolism. The malformation may be isolated or associated with other congenital heart malformations.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Accessory mitral valve tissue
|
None
| 28,068 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99061
| 2021-01-23T18:55:47 |
{"icd-10": ["Q23.8"]}
|
Histiocytic tumor of the external genitalia of the dog and other canines
Illustration of venereal granulomata on a dog's penis.
Canine transmissible venereal tumors (CTVTs), also called transmissible venereal tumors (TVTs), canine transmissible venereal sarcoma (CTVS), sticker tumors and infectious sarcoma is a histiocytic tumor of the external genitalia of the dog and other canines, and is transmitted from animal to animal during mating. It is one of only three known transmissible cancers in mammals; the others are devil facial tumor disease, a cancer which occurs in Tasmanian devils, and contagious reticulum cell sarcoma of the Syrian hamster.
The tumor cells are themselves the infectious agents, and the tumors that form are not genetically related to the host dog.[1] Although the genome of a CTVT is derived from a canid (probably a dog, wolf or coyote), it is now essentially living as a unicellular, asexually reproducing (but sexually transmitted) pathogen.[2] Sequence analysis of the genome suggests it diverged from canids over 6,000 years ago; possibly much earlier.[2] The most recent estimates of its time of origin date it to about 11,000 years ago.[3] However, the most recent common ancestor of extant tumors is more recent: it probably originated 200 to 2,500 years ago.[1][4] The source has more recently been placed in a population of Native American dogs with coyote contribution.[5][6]
Canine TVTs were initially described by Russian veterinarian M.A. Novinsky (1841–1914) in 1876, when he demonstrated that the tumor could be transplanted from one dog to another by infecting them with tumor cells.[7]
## Contents
* 1 Biology
* 1.1 Genetics
* 2 Signs and symptoms
* 3 Treatment
* 4 References
* 5 External links
## Biology[edit]
Canine transmissible venereal tumors are histiocytic tumors that may be transmitted among dogs through coitus, licking, biting and sniffing tumor affected areas. The concept that the tumor is naturally transmissible as an allograft came from three important observations. First, CTVTs can only be experimentally induced by transplanting living tumor cells, and not by killed cells or cell filtrates. Second, the tumor karyotype is aneuploid but has characteristic marker chromosomes in all tumors collected in different geographic regions. Third, a long interspersed nuclear element (LINE-1) insertion near c-myc has been found in all tumors examined so far and can be used as a diagnostic marker to confirm that a tumor is a CTVT.[4][8]
Canine transmissible venereal tumors are most commonly seen in sexually active dogs in tropical and subtropical climates. Canine transmissible venereal tumors are more often found in temperate climates where there are large populations of stray dogs, but little is known about the details of transmission.[9] The disease is spread when dogs mate, and can even be transmitted to other canine species, such as foxes and coyotes.[10] Spontaneous regression of the tumor can occur, probably due to a response from the immune system.[11] CTVT undergoes a predictable cycle: an initial growth phase of four to six months (P phase), a stable phase, and a regression phase (R phase),[12] although not all CTVTs will regress. The tumor does not often metastasize (occurring in about less than 5 percent of cases),[13] except in puppies and immunocompromised dogs. Metastasis occurs to regional lymph nodes,[citation needed] but can also be seen in the skin, brain, eye, liver, spleen, testicle, rectum and muscle.[14] A biopsy is necessary for diagnosis.
The tumor, when treated with the chemotherapy drug vincristine, regresses as the host immune system is activated. CCL5 may play an important role in the immune response.[15]
The success of this single cell lineage, believed to be the longest continually propagated cell lineage in the world, can be attributed to the tumor's mode of transmission in a specific host system. Although direct contact is generally not a highly efficient mode of transfer, CTVTs take advantage of the popular sire effect of domestic dogs. A single male can produce dozens of litters over his lifetime, allowing the tumor to affect many more females than it could if a monogamous species were the host. Understanding the epidemiology of CTVTs could provide insights for populations that may experience CTVT exposure and information about disease prevalence.
### Genetics[edit]
The CTVT cells have fewer chromosomes than normal dog cells. Dog cells normally have 78 chromosomes, while the cancer cells contain 57–64 chromosomes[7] that are very different in appearance from normal dog chromosomes. All dog chromosomes except X and Y are acrocentric, having a centromere very near to the end of the chromosome, while many of the CTVT chromosomes are metacentric or submetacentric, having a centromere nearer to the middle.[16]
All tumor cells of this type of cancer share extremely similar genetic code, often if not always unrelated to the DNA of their host.[4] In addition to the aforementioned c-myc insertion, a few other potential driver mutations have been identified.[17]
## Signs and symptoms[edit]
In male dogs, the tumor affects the penis and foreskin. In female dogs, it affects the vulva. Rarely, the mouth or nose are affected.[18] The tumor often has a cauliflower-like appearance. Signs of genital TVT include a discharge from the prepuce and in some cases urinary retention caused by blockage of the urethra.[16] Signs of a nasal TVT include nasal fistulae, nosebleeds and other nasal discharge, facial swelling, and enlargement of the submandibular lymph nodes.[19]
## Treatment[edit]
Surgery may be difficult due to the location of these tumors. Surgery alone often leads to recurrence. Chemotherapy is very effective for TVTs. The prognosis for complete remission with chemotherapy is excellent.[20] The most common chemotherapy agents used are vincristine, vinblastine, and doxorubicin.[11] Radiotherapy may be required if chemotherapy does not work.[14]
## References[edit]
1. ^ a b Choi, Charles Q. (2006-08-10). "Contagious Canine Cancer Spread by Parasites". LiveScience. Archived from the original on 2006-08-20. Retrieved 2006-08-11.
2. ^ a b Rebbeck CA, Thomas R, Breen M, Leroi AM, Burt A (2009). "Origins and Evolution of a Transmissible Cancer". Evolution. 63 (9): 2340–2349. doi:10.1111/j.1558-5646.2009.00724.x. PMID 19453727.
3. ^ Strakova, Andrea; Murchison, Elizabeth P (2015). "The cancer which survived: Insights from the genome of an 11000 year-old cancer". Current Opinion in Genetics & Development. 30: 49–55. doi:10.1016/j.gde.2015.03.005. PMID 25867244.
4. ^ a b c Murgia, C; Pritchard JK; Kim SY; Fassati A; Weiss RA (2006-08-11). "Clonal Origin and Evolution of a Transmissible Cancer". Cell. 126 (3): 477–87. doi:10.1016/j.cell.2006.05.051. PMC 2593932. PMID 16901782.
5. ^ Wang, Xuan; Zhou, Bo-Wen; Yang, Melinda A.; Yin, Ting-Ting; Chen, Fang-Liang; Ommeh, Sheila C.; Esmailizadeh, Ali; Turner, Melissa M.; Poyarkov, Andrei D.; Savolainen, Peter; Wang, Guo-Dong; Fu, Qiaomei; Zhang, Ya-Ping (3 June 2019). "Canine transmissible venereal tumor genome reveals ancient introgression from coyotes to pre-contact dogs in North America". Cell Research. 29 (7): 592–595. bioRxiv 10.1101/350512. doi:10.1038/s41422-019-0183-2.
6. ^ Ní Leathlobhair, Máire; Perri, Angela R; Irving-Pease, Evan K; Witt, Kelsey E; Linderholm, Anna; Haile, James; Lebrasseur, Ophelie; Ameen, Carly; Blick, Jeffrey; Boyko, Adam R; Brace, Selina; Cortes, Yahaira Nunes; Crockford, Susan J; Devault, Alison; Dimopoulos, Evangelos A; Eldridge, Morley; Enk, Jacob; Gopalakrishnan, Shyam; Gori, Kevin; Grimes, Vaughan; Guiry, Eric; Hansen, Anders J; Hulme-Beaman, Ardern; Johnson, John; Kitchen, Andrew; Kasparov, Aleksei K; Kwon, Young-Mi; Nikolskiy, Pavel A; Lope, Carlos Peraza; et al. (2018). "The evolutionary history of dogs in the Americas" (PDF). Science. 361 (6397): 81–85. doi:10.1126/science.aao4776. PMID 29976825.
7. ^ a b Mello Martins, M.I.; de Souza, F. Ferreira; Gobello, C. (2005). "Canine transmissible venereal tumor: Etiology, pathology, diagnosis and treatment". Recent Advances in Small Animal Reproduction. Retrieved 2006-05-25.
8. ^ Dingli, D; Nowak, MA (2006). "Cancer biology: infectious tumour cells". Nature. 443 (7107): 35–6. doi:10.1038/443035a. PMC 2711443. PMID 16957717.
9. ^ Vonholdt, B. M; Ostrander, E. A (2006). "The singular history of a canine transmissible tumor". Cell. 126 (3): 445–7. doi:10.1016/j.cell.2006.07.016. PMID 16901777.
10. ^ Mukaratirwa S, Gruys E (2003). "Canine transmissible venereal tumour: cytogenetic origin, immunophenotype, and immunobiology. A review". The Veterinary Quarterly. 25 (3): 101–11. doi:10.1080/01652176.2003.9695151. PMID 14535580.
11. ^ a b Stettner N, Brenner O, Eilam R, Harmelin A (2005). "Pegylated liposomal doxorubicin as a chemotherapeutic agent for treatment of canine transmissible venereal tumor in murine models". J. Vet. Med. Sci. 67 (11): 1133–9. doi:10.1292/jvms.67.1133. PMID 16327225.
12. ^ Liao K, Hung S, Hsiao Y, Bennett M, Chu R (2003). "Canine transmissible venereal tumor cell depletion of B lymphocytes: molecule(s) specifically toxic for B cells". Vet. Immunol. Immunopathol. 92 (3–4): 149–62. doi:10.1016/S0165-2427(03)00032-1. PMID 12730015.
13. ^ "Canine Transmissible Venereal Tumor: Introduction". The Merck Veterinary Manual. 2006. Retrieved 2007-04-24.
14. ^ a b Rogers K, Walker M, Dillon H (1998). "Transmissible venereal tumor: a retrospective study of 29 cases". Journal of the American Animal Hospital Association. 34 (6): 463–70. doi:10.5326/15473317-34-6-463. PMID 9826280.
15. ^ Frampton, D; Schwenzer, H; Marino, G; Butcher, LM; Pollara, G; Kriston-Vizi, J; Venturini, C; Austin, R; de Castro, KF; Ketteler, R; Chain, B; Goldstein, RA; Weiss, RA; Beck, S; Fassati, A (9 April 2018). "Molecular Signatures of Regression of the Canine Transmissible Venereal Tumor" (PDF). Cancer Cell. 33 (4): 620–633.e6. doi:10.1016/j.ccell.2018.03.003. PMC 5896242. PMID 29634949.
16. ^ a b Hasler A, Weber W (2000). "Theriogenology question of the month. Transmissible venereal tumor (TVT)". J. Am. Vet. Med. Assoc. 216 (10): 1557–9. PMID 10825939.
17. ^ Belov, Katherine; Jones, Elizabeth; Cheng, Yuanyuan (September 2015). "The origin, dynamics, and molecular evolution of transmissible cancers". Advances in Genomics and Genetics: 317. doi:10.2147/AGG.S61298.
18. ^ Morrison, Wallace B. (1998). Cancer in Dogs and Cats (1st ed.). Williams and Wilkins. ISBN 978-0-683-06105-5.
19. ^ Papazoglou L, Koutinas A, Plevraki A, Tontis D (2001). "Primary intranasal transmissible venereal tumour in the dog: a retrospective study of six spontaneous cases". Journal of Veterinary Medicine, Series A. 48 (7): 391–400. doi:10.1046/j.1439-0442.2001.00361.x. PMID 11599677.
20. ^ Ettinger, Stephen J.; Feldman, Edward C. (1995). Textbook of Veterinary Internal Medicine (4th ed.). W.B. Saunders Company. ISBN 978-0-7216-6795-9.
## External links[edit]
* Transmissible Venereal Tumor from The Pet Health Library
* IVIS—http://www.ivis.org/docarchive/A1233.0405.pdf[permanent dead link]
* New Scientist—Riddle of infectious dog cancer solved
* ScienceDaily—Contagious Cancer In Dogs Confirmed; Origins Traced To Wolves Centuries Ago August 11, 2006 University College London
* LiveScience—Contagious Canine Cancer Spread by Parasites 10 August 2006 10:34 am ET (Charles Q. Choi)
* Towie, Narelle (10 August 2006). "Dog cancer traced back to wolf roots". news@nature. doi:10.1038/news060807-13.
* Mozos, E; Mendez, A; Gomez-Villamandos, JC; Martin De, Las Mulas J; Perez, J (May 1996). "Immunohistochemical characterization of canine transmissible venereal tumor". Vet Pathol. 33 (3): 257–63. doi:10.1177/030098589603300301. Archived from the original on 2007-09-28.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Canine transmissible venereal tumor
|
c0042465
| 28,069 |
wikipedia
|
https://en.wikipedia.org/wiki/Canine_transmissible_venereal_tumor
| 2021-01-18T18:33:17 |
{"mesh": ["D014685"], "wikidata": ["Q1779250"]}
|
A number sign (#) is used with this entry because of evidence that autosomal recessive deafness-111 (DFNB111) is caused by homozygous mutation in the MPZL2 gene (604873) on chromosome 11q23.
Description
DFNB111 is characterized by early-onset, moderate to severe sensorineural hearing loss with no vestibular involvement (Wesdorp et al., 2018; Bademci et al., 2018).
Clinical Features
Wesdorp et al. (2018) reported 8 patients from 3 consanguineous families, 1 Dutch (W05-682) and 2 Turkish (W16-0195, W16-0451), with autosomal recessive nonsyndromic hearing loss. All affected individuals had symmetric, slowly progressive, moderate to severe hearing loss. Onset occurred in the first decade, and high frequency hearing was more severely affected. There was no vestibular involvement.
Bademci et al. (2018) reported 8 patients from 3 unrelated consanguineous families, 2 Turkish and 1 Iranian, with autosomal recessive nonsyndromic sensorineural hearing loss. Seven patients had bilateral, symmetric, moderate hearing loss, whereas 1 patient had more severe hearing loss. Congenital or prelingual onset was suspected based on patient report; no previous audiograms were available.
Molecular Genetics
By homozygosity mapping and whole-exome sequencing in a consanguineous Dutch family (W05-682) segregating autosomal recessive nonsyndromic hearing loss, Wesdorp et al. (2018) identified homozygosity for a 1-bp deletion (c.72del; 604873.0001) in the MPZL2 gene. By subsequent screening of a phenotype-matched cohort and analysis of whole-exome sequencing data of genetically undiagnosed individuals with nonsyndromic hearing loss, they identified 2 Turkish families (W16-0195 and W16-0451) with homozygous or compound heterozygous MPZL2 mutations comprising c.72del and a nonsense mutation (Q74X; 604873.0002). The mutations segregated with the phenotype in all families. All c.72del alleles shared a halotype of at least 0.5 Mb, suggesting that it is a founder variant of ancient origin.
In affected members of 3 consanguineous families from Turkey and Iran with DFNB111, Bademci et al. (2018) identified homozygosity for the previously identified c.72delA founder mutation in the MPZL2 gene. The mutation segregated with the phenotype in all families.
Animal Model
Wesdorp et al. (2018) showed that Mpzl2 mutant mice displayed early-onset progressive sensorineural hearing loss that was more pronounced at high frequencies. Histologic analysis of adult mutant mice demonstrated altered organization of outer hair cells and supporting cells and degeneration of the organ of Corti.
INHERITANCE \- Autosomal recessive HEAD & NECK Ears \- Hearing loss, sensorineural, progressive (moderate to severe) \- No vestibular symptoms MISCELLANEOUS \- High frequency range more severely affected \- Mean age of onset 4 years (range 3-9 years) MOLECULAR BASIS \- Caused by mutation in the myelin protein zero-like 2 gene (MPZL2, 604873.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
DEAFNESS, AUTOSOMAL RECESSIVE 111
|
None
| 28,070 |
omim
|
https://www.omim.org/entry/618145
| 2019-09-22T15:43:30 |
{"omim": ["618145"], "orphanet": ["90636"], "synonyms": ["Autosomal recessive isolated neurosensory deafness type DFNB", "Autosomal recessive isolated sensorineural deafness type DFNB", "Autosomal recessive non-syndromic neurosensory deafness type DFNB"]}
|
Jalili syndrome
Other namesCone rod dystrophy-amelogenesis imperfecta syndrome
Jalili syndrome is inherited via an autosomal recessive manner
Jalili syndrome is a genetic disorder characterized by the combination of cone-rod dystrophy of the retina and amelogenesis imperfecta.[1] It was characterized in 1988 by Dr. I. K. Jalili and Dr. N. J. D. Smith, following the examination of 29 members of an inbred, Arab family living within the Gaza Strip.[1]
## Contents
* 1 Presentation
* 2 Genetics
* 3 Management
* 4 Epidemiology
* 5 References
* 6 Further reading
* 7 External links
## Presentation[edit]
Affected individuals commonly suffer from photophobia, nystagmus and achromatopsia. Other symptoms affecting vision may include night vision difficulties;[2] optic disc pallor; narrow vessels; macular atrophy with pigment mottling; peripheral deep white dot deposits or retinal pigment epithelium (RPE) alterations in the inferonasal retina; decreased foveal and retinal thickness; attenuation of retinal lamination; hyperreflectivity in the choroids (due to RPE and choriocapillaris atrophy);[3] impairment of color vision; and progressive loss of vision with advancing age.[4]
In line with ameleogenesis imperfecta, affected members may display teeth yellow-brown in colour, dysplastic, presenting numerous caries;[3] reduced enamel layer prone to posteruptive failure; and abnormality of morphology involving dentine.[4]
## Genetics[edit]
The Jalili syndrome is caused by different mutations all with a linkage at the achromatopsia locus 2q11 on the metal transporter gene, CNNM4. Sequence analysis of this gene within Jalili syndrome sufferers has identified homozygosity or compound heterozygosity for several different mutations in the CNNM4 gene.[5][6][7][8]
## Management[edit]
This section is empty. You can help by adding to it. (July 2017)
## Epidemiology[edit]
The distribution of Jalili syndrome sufferers is varied. Instances, beyond the Gaza strip patients who characterized the syndrome, include a two generation family from Kosovo who presented in the first few years of life with autosomal recessive cone-rod dystrophy and the hypoplastic/hypomineralized variant of amelogenesis imperfecta,[2] a sister and brother from Kosovo who presented at ages 14 and 7 respectively with dysplastic and discoloured decidual and permanent teeth,[3] and a five generation Lebanese family with two sisters and a male cousin presenting ocular and dental phenotypes akin to the Kosovan siblings.[3]
In 2009, new examinations of the original Palestinian and Kosovan families reported by Jalili and Smith in 1988 and Michaelides et al. in 2004, led to the discovery of five additional cases displayed across genetically unconnected families from varying ethnicities, leading to the proposal of the term “Jalili syndrome” by Parry et al.[4] A small cluster of eight individuals has been documented among the Amish in rural west-central Wisconsin. [9]
## References[edit]
1. ^ a b Jalili, I K; Smith, N J (1988). "A progressive cone-rod dystrophy and amelogenesis imperfecta: A new syndrome". Journal of Medical Genetics. 25 (11): 738–40. doi:10.1136/jmg.25.11.738. PMC 1051576. PMID 3236352.
2. ^ a b Michaelides, M; Bloch-Zupan, A; Holder, GE; Hunt, DM; Moore, AT (2004). "An autosomal recessive cone-rod dystrophy associated with amelogenesis imperfecta". Journal of Medical Genetics. 41 (6): 468–73. doi:10.1136/jmg.2003.015792. PMC 1735797. PMID 15173235.
3. ^ a b c d Polok, Bozena; Escher, Pascal; Ambresin, Aude; Chouery, Eliane; Bolay, Sylvain; Meunier, Isabelle; Nan, Francis; Hamel, Christian; Munier, Francis L. (2009). "Mutations in CNNM4 Cause Recessive Cone-Rod Dystrophy with Amelogenesis Imperfecta". The American Journal of Human Genetics. 84 (2): 259–65. doi:10.1016/j.ajhg.2009.01.006. PMC 2668018. PMID 19200527.
4. ^ a b c Parry, David A.; Mighell, Alan J.; El-Sayed, Walid; Shore, Roger C.; Jalili, Ismail K.; Dollfus, Hélène; Bloch-Zupan, Agnes; Carlos, Roman; Carr, Ian M. (2009). "Mutations in CNNM4 Cause Jalili Syndrome, Consisting of Autosomal-Recessive Cone-Rod Dystrophy and Amelogenesis Imperfecta". The American Journal of Human Genetics. 84 (2): 266–73. doi:10.1016/j.ajhg.2009.01.009. PMC 2668026. PMID 19200525.
5. ^ http://omim.org/entry/607805#0001[full citation needed]
6. ^ http://omim.org/entry/607805#0002[full citation needed]
7. ^ http://omim.org/entry/607805#0003[full citation needed]
8. ^ http://omim.org/entry/607805#0007[full citation needed]
9. ^ https://www.usatoday.com/in-depth/news/nation/2019/11/29/wisconsin-rural-doctor-treats-amish-studies-rare-genetic-diseases/3995625002/
## Further reading[edit]
* Downey, Louise M; Keen, T Jeffrey; Jalili, Ismail K; McHale, John; Aldred, Michael J; Robertson, Steven P; Mighell, Alan; Fayle, Steven; Wissinger, Bernd (2002). "Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate". European Journal of Human Genetics. 10 (12): 865–9. doi:10.1038/sj.ejhg.5200884. PMID 12461695.
* Jalili, I K; Smith, N J (1988). "A progressive cone-rod dystrophy and amelogenesis imperfecta: A new syndrome". Journal of Medical Genetics. 25 (11): 738–40. doi:10.1136/jmg.25.11.738. PMC 1051576. PMID 3236352.
* Michaelides, M; Bloch-Zupan, A; Holder, GE; Hunt, DM; Moore, AT (2004). "An autosomal recessive cone-rod dystrophy associated with amelogenesis imperfecta". Journal of Medical Genetics. 41 (6): 468–73. doi:10.1136/jmg.2003.015792. PMC 1735797. PMID 15173235.
* Parry, David A.; Mighell, Alan J.; El-Sayed, Walid; Shore, Roger C.; Jalili, Ismail K.; Dollfus, Hélène; Bloch-Zupan, Agnes; Carlos, Roman; Carr, Ian M. (2009). "Mutations in CNNM4 Cause Jalili Syndrome, Consisting of Autosomal-Recessive Cone-Rod Dystrophy and Amelogenesis Imperfecta". The American Journal of Human Genetics. 84 (2): 266–73. doi:10.1016/j.ajhg.2009.01.009. PMC 2668026. PMID 19200525.
* Polok, Bozena; Escher, Pascal; Ambresin, Aude; Chouery, Eliane; Bolay, Sylvain; Meunier, Isabelle; Nan, Francis; Hamel, Christian; Munier, Francis L. (2009). "Mutations in CNNM4 Cause Recessive Cone-Rod Dystrophy with Amelogenesis Imperfecta". The American Journal of Human Genetics. 84 (2): 259–65. doi:10.1016/j.ajhg.2009.01.006. PMC 2668018. PMID 19200527.
* Jalili, I.K. Cone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and environs. Eye (2010) 24, 1659–1668; doi:10.1038/eye.2010.103.
## External links[edit]
Classification
D
* ICD-10: H35.5
* OMIM: 217080
* MeSH: C000596385
External resources
* Orphanet: 1873
* OMIM Database (Jalili Syndrome)
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Jalili syndrome
|
c2931074
| 28,071 |
wikipedia
|
https://en.wikipedia.org/wiki/Jalili_syndrome
| 2021-01-18T19:06:34 |
{"gard": ["1463"], "mesh": ["C535976", "C000596385"], "umls": ["C2931074", "C3495589"], "orphanet": ["1873"], "wikidata": ["Q6126829"]}
|
A number sign (#) is used with this entry because of evidence that anterior segment dysgenesis-6 (ASGD6) is caused by compound heterozygous mutation in the CYP1B1 gene (601771) gene on chromosome 2p22.
Description
Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016).
Anterior segment dysgenesis is sometimes divided into subtypes including aniridia (see 106210), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon (Gould and John, 2002).
Patients with ASGD6 have been reported with the Peters anomaly subtype.
Peters anomaly consists of corneal opacity, defects in the posterior structures of the cornea, and iridocorneal and/or keratolenticular adhesions. Over 50% of patients develop glaucoma in childhood (summary by Vincent et al., 2001).
Clinical Features
Vincent et al. (2001) reported a 6-year-old boy of Native American (Mohawk)/French Canadian background with Peters anomaly and glaucoma. The patient presented with a history of bilateral cloudy corneas and tearing since birth. Examination at 3 weeks of age showed bilateral corneal edema with central corneal opacities, superficial pannus (corneal vascularization), and iridocorneal adhesions with a well-formed anterior chamber. The child was otherwise well, with no other malformations and no significant family history. The patient had a left corneal transplant for visual rehabilitation. Microscopic examination of the left corneal button showed that the corneal epithelium was of normal thickness, although there was some edema of the basal cells. Bowman membrane was not recognizable, and the anterior stroma was hypercellular with a disordered lamellar pattern. The posterior stroma was absent centrally, and there was a basophilic granular deposit containing a small amount of extracellular melanin. Descemet membrane was not identified; however, transmission electron microscopy showed a recognizable but abnormal Bowman membrane, which contained scattered keratocytes. A small segment of Descemet was observed, but it was thin with a poorly defined banding pattern. No endothelial cells were seen.
Molecular Genetics
In a Native American (Mohawk)/French Canadian male with Peters anomaly and secondary congenital glaucoma, Vincent et al. (2001) identified compound heterozygosity for mutations in the CYP1B1 gene (601771.0009-601771.0010).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
ANTERIOR SEGMENT DYSGENESIS 6
|
c4310623
| 28,072 |
omim
|
https://www.omim.org/entry/617315
| 2019-09-22T15:46:07 |
{"omim": ["617315", "107250"], "orphanet": ["88632"], "synonyms": ["Anterior segment dysgenesis"]}
|
Glycogen storage disease type VI (also known as GSDVI or Hers disease) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in liver cells. A lack of glycogen breakdown interferes with the normal function of the liver.
The signs and symptoms of GSDVI typically begin in infancy to early childhood. The first sign is usually an enlarged liver (hepatomegaly). During prolonged periods without food (fasting), affected individuals may have low blood sugar (hypoglycemia) or elevated levels of ketones in the blood (ketosis). Ketones are molecules produced during the breakdown of fats, which occurs when stored sugars are unavailable. Children with GSDVI tend to grow slower than their peers, but they often achieve normal height as adults. Some affected children also have mild delays in the development of motor skills, such as sitting, standing, or walking.
The signs and symptoms of GSDVI tend to improve with age; most adults with this condition do not have any related health problems.
## Frequency
The exact prevalence of GSDVI is unknown. At least 11 cases have been reported in the medical literature, although this condition is likely to be underdiagnosed because it can be difficult to detect in children with mild symptoms or adults with no symptoms. GSDVI is more common in the Old Older Mennonite population, with an estimated incidence of 1 in 1,000 individuals.
## Causes
Mutations in the PYGL gene cause GSDVI. The PYGL gene provides instructions for making an enzyme called liver glycogen phosphorylase. This enzyme is found only in liver cells, where it breaks down glycogen into a type of sugar called glucose-1-phosphate. Additional steps convert glucose-1-phosphate into glucose, a simple sugar that is the main energy source for most cells in the body.
PYGL gene mutations prevent liver glycogen phosphorylase from breaking down glycogen effectively. Because liver cells cannot break down glycogen into glucose, individuals with GSDVI can have hypoglycemia and may use fats for energy, resulting in ketosis. Glycogen accumulates within liver cells, causing these cells to become enlarged and dysfunctional.
### Learn more about the gene associated with Glycogen storage disease type VI
* PYGL
## Inheritance Pattern
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Glycogen storage disease type VI
|
c0017925
| 28,073 |
medlineplus
|
https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-vi/
| 2021-01-27T08:25:19 |
{"gard": ["6529"], "mesh": ["D006013"], "omim": ["232700"], "synonyms": []}
|
A number sign (#) is used with this entry because telomere-related pulmonary fibrosis and/or bone marrow failure-2 (PFBMFT2) is caused by heterozygous mutation in the TERC gene (602322) on chromosome 3q26.
For a discussion of genetic heterogeneity of telomere-related pulmonary fibrosis and/or bone marrow failure, see PFBMFT1 (614742).
Clinical Features
Vulliamy et al. (2002) reported 5 unrelated patients with telomere-related bone marrow failure-2 causing aplastic anemia. Four patients were adults and ranged in age between 22 and 53 years, and 1 was a 5-year-old child. The patients were ascertained from a larger group of 41 patients with aplastic anemia.
Fogarty et al. (2003) assessed 2 families with onset of pancytopenia in adults and detected novel point mutations in the TERC gene in affected members of both families (see 602322.0007 and 602322.0008). Affected individuals in both families had no physical signs of dyskeratosis congenita and nearly normal blood counts, but all had severely shortened telomeres, reduced hematopoietic function, and elevated serum erythropoietin and thrombopoietin. Fogarty et al. (2003) concluded that bone marrow failure of variable severity can result from mutations in the TERC gene.
Armanios et al. (2007) reported a patient with adult-onset pulmonary fibrosis. There was a family history of pulmonary fibrosis spanning 4 generations. In addition, 3 family members had aplastic anemia and a fourth died of acute myeloid leukemia (AML), probably in the setting of aplastic anemia.
Kirwan et al. (2009) reported a boy with telomere-related bone marrow failure-2, manifest as severe aplastic anemia. His father later presented with myelodysplastic syndrome (MDS) at age 45 years. In vitro studies showed less than 1% telomerase activity, and telomeres in the father were very short. Family history revealed that the boy's paternal grandfather had anemia and thrombocytopenia.
Parry et al. (2011) demonstrated that a personal and family history of both aplastic anemia and pulmonary fibrosis is highly predictive for the presence of a germline mutation in the TERT or TERC genes. They performed a retrospective study of 10 patients referred for bone marrow failure or pulmonary fibrosis who had a family history of the other disorder. Six cases presented initially with aplastic anemia and 4 initially with interstitial lung disease. Six of the 10 were subsequently diagnosed with a second feature, including pulmonary or hepatic fibrosis, or hypoplastic marrow. The mean age at diagnosis for those who presented with aplastic anemia was significantly younger than those with pulmonary fibrosis (14 vs 51 years). All patients had at least 1 other first-degree relative with bone marrow failure or pulmonary disease, and the transmission pattern was consistent with autosomal dominant inheritance. In 8 of 10 families, there was phenotypic heterogeneity across generations: older generations first manifested with pulmonary fibrosis, whereas subsequent generations manifested with bone marrow failure at an earlier age. Although none had skin manifestations, most had premature graying of the hair before age 25 years. All 10 probands had a mutation in either the TERT (7 patients) (see, e.g., 187270.0018-187270.0020) or the TERC (3 patients) (see, e.g., 602322.0008 and 602322.0012) gene, and the mutations segregated with the disorder. The mutant genes were associated with very short telomerase lengths in patient lymphocytes (less than 1% of control). Parry et al. (2011) concluded that the complex of bone marrow failure and pulmonary fibrosis is highly specific for the presence of a germline telomerase defect.
Inheritance
The transmission pattern of PFBMFT2 in the family reported by Armanios et al. (2007) was consistent with autosomal dominant inheritance.
In 8 of 10 families with telomerase mutations, Parry et al. (2011) observed phenotypic heterogeneity across generations: older generations first manifested with pulmonary fibrosis, whereas subsequent generations manifested with bone marrow failure at an earlier age. These findings suggested that genetic anticipation due to telomere shortening is not only associated with early age of onset across generations, but also with a changing pattern of disease manifestations.
Molecular Genetics
Ball et al. (1998) found that patients with idiopathic aplastic anemia have shorter telomeres than normal controls. Because patients with the very rare autosomal dominant form of dyskeratosis congenita (127550), which is caused by mutation in the TERC gene, also have very short telomeres (Vulliamy et al., 2001), Vulliamy et al. (2002) performed mutation screens of the TERC gene in patients with aplastic anemia. They identified heterozygous TERC mutations in 2 of 17 patients with idiopathic aplastic anemia, in 3 of 27 patients with constitutional aplastic anemia, and in none of 214 normal controls. Furthermore, patients with TERC mutations had significantly shorter telomeres than age-matched controls. The 58G-A mutation (602322.0004) was found in 3 of the patients, 2 of whom were categorized as having idiopathic aplastic anemia and 1 as having constitutional aplastic anemia (associated with short stature and phimosis). This variability in the severity and age at onset in patients with the same mutation highlighted the role of other genetic or environmental factors in the clinical phenotype. Vulliamy et al. (2002) observed that in X-linked dyskeratosis congenita, which is also characterized by aplastic anemia, the recurrent mutation 1058C-T (300126.0006) is associated with a wide variation in the age at onset of aplastic anemia from 1 to 22 years.
Among 73 probands with familial idiopathic pulmonary fibrosis screened for mutation in the TERT or the TERC gene, Armanios et al. (2007) detected 1 patient with a heterozygous mutation in the TERC gene (602322.0009).
Alder et al. (2008) studied telomere length in 62 sporadic patients with idiopathic interstitial pneumonia, 50 (81%) of whom had been diagnosed with pulmonary fibrosis. They found that pulmonary fibrosis patients had shorter leukocyte telomeres than age-matched controls (p less than 0.0001). Screening the TERT and TERC genes in 100 consecutive patients, including the 62 individuals in whom telomere length had been measured, revealed a mutation in TERC in 1 patient (602322.0010). The authors noted that a subset of patients (10%) with no family history had telomere lengths in the range of known mutation carriers, even when mutations were not detected. In addition, from a total of 150 patients with pulmonary fibrosis, they detected a cluster of 4 (3%) patients, who also had cryptogenic liver cirrhosis, suggesting that the observed telomere shortening has consequences and can contribute to what appears clinically as 'idiopathic' progressive organ failure in the lung and the liver.
In a boy with aplastic anemia and his father with adult-onset myelodysplastic syndrome, Kirwan et al. (2009) identified a heterozygous mutation (602322.0013). The findings suggested that constitutional TERC mutations can be associated with the development of myelodysplastic syndrome even in the absence of aplastic anemia. Overall, Kirwan et al. (2009) identified TERT or TERC mutations in 4 of 20 families presenting with MDS/AML.
INHERITANCE \- Autosomal dominant RESPIRATORY Lung \- Pulmonary fibrosis ABDOMEN Liver \- Cirrhosis (in some) SKIN, NAILS, & HAIR Hair \- Premature graying of the hair HEMATOLOGY \- Bone marrow failure \- Pancytopenia \- Aplastic anemia NEOPLASIA \- Increased risk for cancer \- Increased risk for myelodysplastic syndrome \- Increased risk for hematologic cancer, particularly acute myeloid leukemia LABORATORY ABNORMALITIES \- Decreased telomere length in lymphocytes MISCELLANEOUS \- Adult onset \- Variable manifestations \- Incomplete penetrance MOLECULAR BASIS \- Caused by mutation in the telomerase RNA component gene (TERC, 602322.0004 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2
|
c0348890
| 28,074 |
omim
|
https://www.omim.org/entry/614743
| 2019-09-22T15:54:20 |
{"mesh": ["C538494"], "omim": ["614743"], "orphanet": ["88"]}
|
Clear cell sarcoma
Other namesMalignant melanoma of the soft parts
Clear cell sarcoma. Tumor cells with prominent nucleoli and clear cytoplasm are arranged in well-defined nests surrounded by dense fibrous stroma.
SpecialtyOncology
Clear cell sarcoma is a rare form of cancer called a sarcoma.[1] It is known to occur mainly in the soft tissues and dermis. Rare forms were thought to occur in the gastrointestinal tract before they were discovered to be different and redesignated as GNET.
Recurrence is common.[2]
It has been associated with both EWSR1-ATF1 and EWSR1-CREB1 fusion transcripts.[3]
Clear cell sarcoma of the soft tissues in adults is not related to the pediatric tumor known as clear cell sarcoma of the kidney.[4]
## Contents
* 1 Signs and symptoms
* 2 Pathology
* 3 Diagnosis
* 4 Treatment
* 5 Prognosis
* 6 See also
* 7 References
* 8 External links
## Signs and symptoms[edit]
It presents as a slow growing mass that especially affects tendons and aponeuroses and it is deeply situated. Patients often perceive it as a lump or hard mass. It causes either pain or tenderness but only until it becomes large enough. This kind of tumor is commonly found in the extremities especially around the knee, feet and ankle. Patients diagnosed with clear cell sarcoma are usually between the ages of 20 and 40.[1]
## Pathology[edit]
Despite the name clear cell sarcoma, the tumor cells do not necessarily need to have clear cytoplasm. The lesion has a distinctly nested growth pattern with a mixture of spindle, epithelioid and tumor giant cells. Approximately two thirds of the tumors contain melanin pigment. Clear cell sarcoma, similar to melanoma, has consistent positivity for S-100, HMB-45, and MITF.[5]
## Diagnosis[edit]
Imaging studies such as X-rays, computed tomography scans, or MRI may be required to diagnose clear-cell sarcoma together with a physical exam. Normally a biopsy is also necessary. Furthermore, a chest CT, a bone scan and positron emission tomography (PET) may be part of the tests in order to evaluate areas where metastases occur.[6]
## Treatment[edit]
Treatment depends upon the site and the extent of the disease. Clear cell sarcoma is usually treated with surgery in the first place in order to remove the tumor. The surgical procedure is then followed by radiation and sometimes chemotherapy.[7] Few cases of clear cell sarcoma respond to chemotherapy.[1] Several types of targeted therapy that may be of benefit to clear cell sarcoma people are currently under investigation.[1]
## Prognosis[edit]
When the tumor is large and there is presence of necrosis and local recurrence, the prognosis is poor. Presence of metastasis occurs in more than 50% cases and the common places of its occurrence are the bone, lymph node and lungs.[8] [9] Five-year survival rates, which are reported to be between 50-65%, can be misleading because the disease is prone to late metastasis or recurrence. Ten and twenty-year survival rates are 33% and 10%, respectively.[1]
## See also[edit]
* Melanoma
* Clear-cell sarcoma of the kidney
* List of cutaneous conditions
* Hyalinizing clear cell carcinoma \- has the same chromosomal translocation
## References[edit]
1. ^ a b c d e Barry, G; Nielsen, T (June 2012). "Clear Cell Sarcoma of Soft Tissue". ESUN. 9 (3). Retrieved 15 June 2012.
2. ^ Malchau SS, Hayden J, Hornicek F, Mankin HJ (May 2007). "Clear cell sarcoma of soft tissues". J Surg Oncol. 95 (6): 519–22. doi:10.1002/jso.20730. PMID 17192915.
3. ^ Hisaoka M, Ishida T, Kuo TT, et al. (March 2008). "Clear cell sarcoma of soft tissue: a clinicopathologic, immunohistochemical, and molecular analysis of 33 cases". Am. J. Surg. Pathol. 32 (3): 452–60. doi:10.1097/PAS.0b013e31814b18fb. PMID 18300804.
4. ^ Poppe B, Forsyth R, Dhaene K, Speleman F. Soft tissue tumors: Clear cell sarcoma. Atlas Genet Cytogenet Oncol Haematol. November 2002.
5. ^ "Clear cell sarcoma". Pathology Outlines. Retrieved 26 May 2015.
6. ^ "Diagnosis". Retrieved 2010-06-29.
7. ^ "Treatment". Retrieved 2010-06-29.
8. ^ "Clear Cell Sarcoma of Tendons and Aponeuroses". Retrieved 2010-06-29.
9. ^ Alhatem, Albert (2020). "Primary Cutaneous Clear Cell Sarcoma, Clinical Outcome With Sentinel Lymph Nodes Status". Am J Clin Pathol. 153 (5): 799–810. doi:10.1093/ajcp/aqaa009. PMID 32157275.
## External links[edit]
Classification
D
* ICD-O: 9044/3
* MeSH: D018227
* SNOMED CT: 402561003
* v
* t
* e
Connective/soft tissue tumors and sarcomas
Not otherwise specified
* Soft-tissue sarcoma
* Desmoplastic small-round-cell tumor
Connective tissue neoplasm
Fibromatous
Fibroma/fibrosarcoma:
* Dermatofibrosarcoma protuberans
* Desmoplastic fibroma
Fibroma/fibromatosis:
* Aggressive infantile fibromatosis
* Aponeurotic fibroma
* Collagenous fibroma
* Diffuse infantile fibromatosis
* Familial myxovascular fibromas
* Fibroma of tendon sheath
* Fibromatosis colli
* Infantile digital fibromatosis
* Juvenile hyaline fibromatosis
* Plantar fibromatosis
* Pleomorphic fibroma
* Oral submucous fibrosis
Histiocytoma/histiocytic sarcoma:
* Benign fibrous histiocytoma
* Malignant fibrous histiocytoma
* Atypical fibroxanthoma
* Solitary fibrous tumor
Myxomatous
* Myxoma/myxosarcoma
* Cutaneous myxoma
* Superficial acral fibromyxoma
* Angiomyxoma
* Ossifying fibromyxoid tumour
Fibroepithelial
* Brenner tumour
* Fibroadenoma
* Phyllodes tumor
Synovial-like
* Synovial sarcoma
* Clear-cell sarcoma
Lipomatous
* Lipoma/liposarcoma
* Myelolipoma
* Myxoid liposarcoma
* PEComa
* Angiomyolipoma
* Chondroid lipoma
* Intradermal spindle cell lipoma
* Pleomorphic lipoma
* Lipoblastomatosis
* Spindle cell lipoma
* Hibernoma
Myomatous
general:
* Myoma/myosarcoma
smooth muscle:
* Leiomyoma/leiomyosarcoma
skeletal muscle:
* Rhabdomyoma/rhabdomyosarcoma: Embryonal rhabdomyosarcoma
* Sarcoma botryoides
* Alveolar rhabdomyosarcoma
* Leiomyoma
* Angioleiomyoma
* Angiolipoleiomyoma
* Genital leiomyoma
* Leiomyosarcoma
* Multiple cutaneous and uterine leiomyomatosis syndrome
* Multiple cutaneous leiomyoma
* Neural fibrolipoma
* Solitary cutaneous leiomyoma
* STUMP
Complex mixed and stromal
* Adenomyoma
* Pleomorphic adenoma
* Mixed Müllerian tumor
* Mesoblastic nephroma
* Wilms' tumor
* Malignant rhabdoid tumour
* Clear-cell sarcoma of the kidney
* Hepatoblastoma
* Pancreatoblastoma
* Carcinosarcoma
Mesothelial
* Mesothelioma
* Adenomatoid tumor
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Clear cell sarcoma
|
c0206651
| 28,075 |
wikipedia
|
https://en.wikipedia.org/wiki/Clear_cell_sarcoma
| 2021-01-18T18:49:08 |
{"mesh": ["D018227"], "wikidata": ["Q3473544"]}
|
Hyaline fibromatosis syndrome is a disorder in which a clear (hyaline) substance abnormally accumulates in body tissues. This disorder affects many areas of the body, including the skin, joints, bones, and internal organs. The severity of the signs and symptoms of hyaline fibromatosis syndrome fall along a spectrum. In more severe cases (previously diagnosed as infantile systemic hyalinosis), signs and symptoms are present at birth or begin within the first few months of life and can be life-threatening. In milder cases (previously diagnosed as juvenile hyaline fibromatosis), signs and symptoms begin in childhood and affect fewer body systems.
One of the main features of hyaline fibromatosis syndrome is the growth of noncancerous masses of tissue (nodules) under the skin, very commonly on the scalp. In more severely affected individuals, nodules also grow in the muscles and internal organs, causing pain and complications. Some severely affected individuals develop a condition called protein-losing enteropathy due to the formation of nodules in their intestines. This condition results in severe diarrhea, failure to gain weight and grow at the expected rate, and general wasting and weight loss (cachexia).
Another common feature of hyaline fibromatosis syndrome is painful skin bumps that frequently appear on the hands, neck, scalp, ears, and nose. They can also develop in joint creases and the genital region. These skin bumps are described as white or pink and pearly. They may be large or small and often increase in number over time.
In some affected individuals, especially those with more severe signs and symptoms, the skin covering joints, such as the ankles, wrists, elbows, and finger joints, is unusually dark (hyperpigmented). Hyaline fibromatosis syndrome is also characterized by overgrowth of the gums (gingival hypertrophy), and some affected individuals have thickened skin.
Joint stiffness and pain are common in hyaline fibromatosis syndrome, and many affected individuals develop joint deformities called contractures that limit movement. By adulthood, some people with the condition require a wheelchair for mobility. Bone abnormalities can also occur in hyaline fibromatosis syndrome.
Although individuals with hyaline fibromatosis syndrome have severe physical limitations, mental development is typically normal. People with milder signs and symptoms live into adulthood, while the most severely affected individuals often do not survive beyond early childhood due to chronic diarrhea and recurrent infections.
## Frequency
Hyaline fibromatosis syndrome is a rare condition. Its prevalence is unknown.
## Causes
Hyaline fibromatosis syndrome is caused by mutations in a gene called ANTXR2. This gene provides instructions for making a protein that is found at the surface of many types of cells. The ANTXR2 protein is believed to interact with components of the extracellular matrix, which is the lattice of proteins and other molecules outside the cell. This matrix strengthens and supports connective tissues, such as skin, bone, cartilage, tendons, and ligaments. The ANTXR2 protein may play a role in the structure of the extracellular matrix. The nature of the hyaline substance that builds up in hyaline fibromatosis syndrome is unknown, but it likely contains extracellular matrix proteins, among other materials.
Mutations in the ANTXR2 gene are thought to result in production of an ANTXR2 protein that is unable to get to the surface of cells or that has impaired ability to interact with extracellular matrix components. It is unclear what effect these mutations have in cells and tissues. Researchers suspect that gene mutations disrupt the formation of the extracellular matrix, allowing a hyaline substance to leak through and build up in various body tissues. Alternatively, the mutations could impair the breakdown of excess extracellular matrix proteins, which then accumulate in tissues and lead to the signs and symptoms of hyaline fibromatosis syndrome.
Researchers are unsure why the severity of hyaline fibromatosis syndrome varies among affected individuals. Some studies have indicated that the severity of the condition may be linked to where in the gene the mutation occurs.
### Learn more about the gene associated with Hyaline fibromatosis syndrome
* ANTXR2
## Inheritance Pattern
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Hyaline fibromatosis syndrome
|
c2745948
| 28,076 |
medlineplus
|
https://medlineplus.gov/genetics/condition/hyaline-fibromatosis-syndrome/
| 2021-01-27T08:25:03 |
{"gard": ["6807"], "mesh": ["D057770"], "omim": ["228600"], "synonyms": []}
|
## Summary
### Clinical characteristics.
X-linked adrenoleukodystrophy (X-ALD) affects the nervous system white matter and the adrenal cortex. Three main phenotypes are seen in affected males:
* The childhood cerebral form manifests most commonly between ages four and eight years. It initially resembles attention-deficit disorder or hyperactivity; progressive impairment of cognition, behavior, vision, hearing, and motor function follow the initial symptoms and often lead to total disability within six months to two years. Most individuals have impaired adrenocortical function at the time that neurologic disturbances are first noted.
* Adrenomyeloneuropathy (AMN) manifests most commonly in an individual in his twenties or middle age as progressive stiffness and weakness of the legs, sphincter disturbances, sexual dysfunction, and often, impaired adrenocortical function; all symptoms are progressive over decades.
* "Addison disease only" presents with primary adrenocortical insufficiency between age two years and adulthood and most commonly by age 7.5 years, without evidence of neurologic abnormality; however, some degree of neurologic disability (most commonly AMN) usually develops by middle age.
More than 20% of female carriers develop mild-to-moderate spastic paraparesis in middle age or later. Adrenal function is usually normal.
### Diagnosis/testing.
The diagnosis of X-ALD is established in a male proband with suggestive clinical findings and elevated very long chain fatty acids (VLCFA). MRI is always abnormal in boys with cerebral disease and often provides the first diagnostic lead. The diagnosis of X-ALD is usually established in a female proband with detection of a heterozygous ABCD1 pathogenic variant and elevated VLCFA.
### Management.
Treatment of manifestations: Corticosteroid replacement therapy is essential for those with adrenal insufficiency. Affected boys benefit from the general supportive care of parents and psychological and educational support. Physical therapy, management of urologic complications, and family and vocational counseling are of value for men with AMN.
Surveillance: For males with X-ALD, periodic reevaluation of adrenocortical function (currently suggested at 6-month intervals) and MRIs for detection of early cerebral disease (yearly until age 3 years and then at 6-month intervals until age 10 years).
Evaluation of relatives at risk: Early identification of asymptomatic or minimally symptomatic at-risk males permits timely treatment of adrenal insufficiency.
### Genetic counseling.
X-ALD is inherited in an X-linked manner. About 95% of persons representing index cases have inherited the ABCD1 pathogenic variant from one parent; at least 4.1% of individuals with X-ALD have a de novo pathogenic variant. Affected males transmit the ABCD1 pathogenic variant to all of their daughters and none of their sons. Carrier females have a 50% chance of transmitting the ABCD1 pathogenic variant in each pregnancy. Males who inherit the pathogenic variant will be affected; females who inherit it are carriers and will usually not be seriously affected. The phenotypic expression and prognosis of an affected male is unpredictably variable. Heterozygote (carrier) detection for at-risk female relatives and prenatal testing or preimplantation genetic testing for pregnancies at increased risk are possible if the pathogenic variant in the family is known.
## Diagnosis
### Suggestive Findings
The diagnosis of X-linked adrenoleukodystrophy (X-ALD) should be suspected in an individual in one of four clinical settings and in infants with a positive newborn screen result.
Clinical settings
* Boys with symptoms of attention-deficit disorder (ADD) who also show signs of dementia, progressive behavioral disturbance, vision loss, difficulty in understanding spoken language, worsening handwriting, incoordination, or other neurologic disturbances
* Young or middle-aged men with progressive gait disorders, leg stiffness or weakness, abnormalities of sphincter control, and sexual dysfunction, with or without adrenal insufficiency or cognitive or behavioral deficits
* All males with primary adrenocortical insufficiency, with or without evidence of neurologic abnormality
* Adult women with progressive paraparesis, abnormalities of sphincter control, and sensory disturbances mainly affecting the legs. It may be difficult to establish the diagnosis of X-ALD in a female with a negative family history. Diagnosis is based on clinical features (most commonly progressive spastic paraparesis) and a panel of laboratory tests.
Neuroimaging. Brain MRI is always abnormal in neurologically symptomatic males with cerebral disease and often provides the first diagnostic lead. In approximately 85% of affected individuals, MRI shows a characteristic pattern of symmetric enhanced T2 signal in the parieto-occipital region with contrast enhancement at the advancing margin.
Newborn screening. In February 2016, newborn screening for X-ALD was added to the recommended uniform screening panel in the United States. At present several states have added it to their newborn blood spot screening. New York state began screening in 2012 and all newborns are screened using a three-tiered algorithm: the first two tiers involve biochemical testing (i.e., tandem mass spectrometry [MS/MS] of C26:0; in all those with an out-of-range result, C26:0 LPC is measured using HPLC-MS/MS) [Vogel et al 2015] (see Table 1). The third tier is molecular genetic testing to confirm the diagnosis (see Establishing the Diagnosis, Molecular genetic testing). Other states have chosen varying strategies.
### Establishing the Diagnosis
Male proband. The diagnosis of X-ALD is established in a male proband with suggestive clinical findings and elevated very long chain fatty acids (VLCFA). Measurement of VLCFA is sufficient to establish the diagnosis of X-ALD in the majority of affected males. Rarely, when measurement of VLCFA is inconclusive, detection of a hemizygous ABCD1 pathogenic variant on molecular genetic testing is required to confirm the diagnosis (see Table 2).
Female proband. The diagnosis of X-ALD is usually established in a female proband by detection of a heterozygous ABCD1 pathogenic variant and elevated VLCFA.
A female with childhood-onset X-ALD caused by biallelic pathogenic variants in ABCD1 involving a maternally inherited pathogenic variant in ABCD1 in combination with a paternally derived deletion of chromosome Xq27 has been reported [Hershkovitz et al 2002].
Very long chain fatty acids (VLCFA). Three parameters are analyzed:
* Concentration of C26:0
* Ratio of C24:0 to C22:0
* Ratio of C26:0 to C22:0
Table 1 summarizes mean results for normal controls, affected males, and carrier females. The VLCFA assay is performed in a limited number of laboratories worldwide.
* Males. The plasma concentration of very long chain fatty acids (VLCFA) is abnormal in males with X-ALD, irrespective of age. All three parameters are elevated in the majority of males, though some variation is observed. The discriminant function reported in Moser et al [1999] fully separates normal control males from affected males.
* Females. Increased concentration of VLCFA in plasma and/or cultured skin fibroblasts is present in approximately 85% of females; 20% of known carriers have normal plasma concentration of VLCFA. The discriminant function reported in Moser et al [1999] is not able to distinguish all carriers from the normal control range. Note: The discriminant function published by Moser et al [1999] is applicable to the specific method used at that time. A different discriminant function would need to be derived for other methods of extraction and analysis.
### Table 1.
Plasma Very Long Chain Fatty Acid (VLCFA) Values in X-ALD
View in own window
VLCFANormalMales with X-ALDObligate Female Carriers
C26:0 µg/mL 10.23+0.091.30+0.450.68+0.29
C24:0/C22:0 20.84+0.101.71+0.231.30+0.19
C26:0/C22:0 20.01+0.0040.07+0.030.04+0.02
Steinberg et al [2008]
1\.
The concentration of C26:0 is reported as µg/mL; some laboratories report this as µmol/L.
2\.
Lorenzo's oil, a mixture of erucic and oleic acids, is used therapeutically to normalize VLCFA levels. Thus erucic acid (C22:1) levels are routinely reported when measuring plasma VLCFA. Certain oils used in cooking, such as mustard seed oil, have naturally high levels of erucic acid and thus can lead to an elevation similar to that observed with Lorenzo's oil therapy.
#### Molecular Genetic Testing
Molecular genetic testing approaches can include single-gene testing, use of a multigene panel, and more comprehensive genomic testing:
* Single-gene testing. Sequence analysis of ABCD1 is performed first followed by gene-targeted deletion/duplication analysis if no pathogenic variant is found.
* A multigene panel that includes ABCD1 and other genes of interest (see Differential Diagnosis) may be considered. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview; thus, clinicians need to determine which multigene panel is most likely to identify the genetic cause of the condition at the most reasonable cost while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests.
For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.
Note: Analysis of ABCD1 by next-generation sequencing is complicated by the presence of pseudogenes ABCD1P1, ABCD1P2, ABCD1P3, ABCD1P4, and ABCD1P5.
* More comprehensive genomic testing (when available) including exome sequencing and genome sequencing may be considered. Such testing may provide or suggest a diagnosis not previously considered (e.g., mutation of a different gene or genes that results in a similar clinical presentation).
For an introduction to comprehensive genomic testing click here. More detailed information for clinicians ordering genomic testing can be found here.
Note: The clinical consequence of pathogenic or suspected pathogenic variants in ABCD1 may be determined by clinical correlation with very long chain fatty acid analysis [Schackmann et al 2016].
### Table 2.
Molecular Genetic Testing Used in X-ALD
View in own window
Gene 1MethodProportion of Probands with a Pathogenic Variant 2 Detectable by Method
ABCD1Sequence analysis 3, 497% 5
Gene-targeted deletion/duplication analysis 63% 5
1\.
See Table A. Genes and Databases for chromosome locus and protein.
2\.
See Molecular Genetics for information on allelic variants detected in this gene.
3\.
Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Pathogenic variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.
4\.
Lack of amplification by PCR prior to sequence analysis can suggest a putative (multi)exon or whole-gene deletion on the X chromosome in affected males; confirmation requires additional testing by gene-targeted deletion/duplication analysis.
5\.
In hemizygous males and obligate heterozygotes: 399/423 had pathogenic variants, likely pathogenic variants, or variants of uncertain significance detected by sequence analysis; 19/423 had pathogenic variants identified by gene-targeted deletion/duplication analysis; in one of the five remaining individuals with no identifiable pathogenic variant, Southern blot analysis suggested a duplication or rearrangement [Steinberg, Moser, and Raymond, personal observation; adrenoleukodystrophy.info].
6\.
Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.
## Clinical Characteristics
### Clinical Description
The range of phenotypic expression in X-linked adrenoleukodystrophy (X-ALD) is wide and cannot be predicted through levels of VLCFA or family history. Widely varying phenotypes often co-occur in a single kindred or sibship [Moser et al 2001]. Some individuals with X-ALD remain asymptomatic until their adult years.
#### Presentations Most Commonly Seen in Affected Males
Symptom set 1 (childhood cerebral forms; ~35% of affected individuals). Presentation occurs most commonly between age four and eight years, with a peak at age seven years. It virtually never occurs before age three years.
Affected boys present with behavioral or learning deficits, often diagnosed as attention-deficit disorder or hyperactivity, which may respond to stimulant medication. These behaviors may persist for months or longer, and are followed by symptoms suggestive of a more serious underlying disorder including: "spacing out" in school (inattention, deterioration in handwriting skills, and diminishing school performance); difficulty in understanding speech (though sound perception is normal); difficulty in reading, spatial orientation, and comprehension of written material; clumsiness; visual disturbances and occasionally diplopia; and aggressive or disinhibited behavior.
Brain MRI examination performed at this time can be strikingly abnormal even when symptoms are relatively mild.
In some boys, seizures may be the first manifestation.
While variable, the rate of progression may be rapid, with total disability in six months to two years followed by death at varying ages.
Most individuals have impaired adrenocortical function at the time that neurologic disturbances are first noted.
Symptom set 2 (adrenomyeloneuropathy [AMN]; ~40%-45%). The typical presentation is a man in his twenties or middle age who develops progressive stiffness and weakness in the legs, abnormalities of sphincter control, and sexual dysfunction. All symptoms are progressive over decades.
Approximately 40%-45% of individuals with AMN show some degree of brain involvement on MRI or clinical examination. In 10%-20% of individuals with AMN, brain involvement becomes severely progressive and leads to serious cognitive and behavioral disturbances that may progress to total disability and death.
Approximately 70% of men with AMN have impaired adrenocortical function at the time that neurologic symptoms are first noted.
Symptom set 3 (Addison disease only; ~10%). Males present with signs of adrenal insufficiency between age two years and adulthood, most commonly by age 7.5 years. Presenting signs include unexplained vomiting and weakness or coma, leading to the diagnosis of Addison disease. Increased skin pigmentation resulting from excessive ACTH secretion is variably present.
Most males who present initially with adrenocortical insufficiency do not develop evidence of AMN until middle age.
Overall, adrenal function is abnormal in 90% of neurologically symptomatic boys and in 70% of men with adrenomyeloneuropathy. It is usually normal in carrier females. The most sensitive indicators of adrenal dysfunction are elevated plasma ACTH and impaired rise of plasma cortisol in response to ACTH challenge. Adrenal antibodies are not present.
#### Presentations Seen in ~5%-10% of Affected Males
Symptom set 4 includes headache, increased intracranial pressure, hemiparesis or visual field defect, aphasia or other signs of localized brain disease. Onset is usually between age four and ten years but may occur in adolescence or, rarely, in adults.
Symptom set 5 includes progressive behavioral disturbance, dementia, and paralysis in an adult.
Symptom set 6 includes progressive incoordination and ataxia in a child or adult.
Symptom set 7 includes neurogenic bladder and bowel abnormalities and occasionally impotence without other neurologic or endocrine disturbance in at-risk males who have a positive family history.
Symptom set 8 shows no evidence of neurologic or endocrine dysfunction.
#### Female Carriers
More than 20% of female carriers develop mild to moderate spastic paraparesis in middle age or later. Adrenal function is usually normal.
### Genotype-Phenotype Correlations
The phenotype cannot be predicted by VLCFA plasma concentration or by the nature of the ABCD1 pathogenic variant, as the same pathogenic variant can be associated with each of the known phenotypes. Mild phenotypes may be associated with large deletions that abolish formation of the gene product, and severe phenotypes occur with missense pathogenic variants in which abundant immunoreactive protein product is produced [Moser & Moser 1999, Takano et al 1999, Pan et al 2005].
### Penetrance
The biochemical phenotype of elevated plasma concentration of VLCFA has nearly 100% penetrance in males.
Although the variation in clinical phenotypes is great, neurologic manifestations are present in nearly all males by adulthood.
### Nomenclature
Siemerling-Creuzfeldt disease is the eponym for X-ALD.
Historically, the eponym Schilder's disease referred to several clinical entities including X-ALD; on occasion, families may have been given this diagnosis. Schilder's disease is still sometimes (incorrectly) used to refer to sudanophilic cerebral sclerosis and certain forms of multiple sclerosis, which may lead to diagnostic confusion.
### Prevalence
The prevalence is estimated at between 1:20,000 and 1:50,000. The minimum frequency of hemizygotes (i.e., affected males) identified in the United States is estimated at 1:21,000 and that of hemizygotes plus heterozygotes (i.e., carrier females) at 1:16,800 [Bezman et al 2001].
The prevalence appears to be approximately the same in all ethnic groups.
## Differential Diagnosis
Conditions that may share clinical features with X-linked adrenoleukodystrophy (X-ALD) include the following:
* Symptom set 1 (childhood cerebral form). Attention-deficit disorder; epilepsy and other types of Addison disease; brain tumor; other types of leukodystrophy including arylsulfatase A deficiency (metachromatic leukodystrophy) and Krabbe disease (globoid cell leukodystrophy); subacute sclerosing encephalitis, multiple sclerosis, Lyme disease, and other dementing disorders including juvenile neuronal ceroid-lipofuscinosis (Batten disease)
* Symptom set 2 (adrenomyeloneuropathy). Multiple sclerosis, progressive spastic paraparesis (see Hereditary Spastic Paraplegia Overview), amyotrophic lateral sclerosis, vitamin B12 deficiency, spinal cord tumor, and cervical spondylosis
* Symptom set 3 (Addison disease only). Allgrove syndrome (achalasia, alacrima, autonomic disturbance, and Addison disease; OMIM 231550). Males with apparently isolated primary adrenal insufficiency (i.e., no evidence for other systemic involvement) should be evaluated with plasma VLCFA because X-ALD is the most common genetic cause of Addison disease [Aubourg & Chaussain 2003]. The occurrence of Addison disease in female carriers for X-ALD is rare.
* Symptom set 4. Brain tumor, MELAS, CADASIL
* Symptom set 5. Alzheimer disease (see Alzheimer Disease Overview), alcoholic or toxic encephalopathy, solvent vapor exposure, psychosis
* Symptom set 6. Olivopontocerebellar degeneration and other progressive ataxias (see Hereditary Ataxia Overview)
* Symptom set 7. Other causes of neurogenic bladder/bowel or impotence
## Management
### Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with X-linked adrenoleukodystrophy (X-ALD), the following evaluations are recommended if they have not already been completed:
* Neurologic examination
* Brain MRI
* Adrenal function tests [Dubey et al 2005]
* Consultation with a clinical geneticist and/or genetic counselor
### Treatment of Manifestations
When adrenal insufficiency is identified in an affected male, corticosteroid replacement therapy is essential and can be lifesaving. (Corticosteroid replacement therapy has no effect on nervous system involvement.)
Affected boys with cerebral disease benefit from the general supportive care of parents, as well as psychological and educational support.
Physical therapy, management of urologic complications, and family and vocational counseling are of value for men with adrenomyeloneuropathy, many of whom maintain successful personal and professional lives [Silveri et al 2004].
### Prevention of Primary Manifestations
Hematopoietic stem cell transplantation (HSCT) is an option for boys and adolescents in early stages of symptom set 1 who have evidence of brain involvement on MRI.
In X-ALD, HSCT has been associated with a 20% risk for morbidity and mortality and is recommended only for individuals with evidence of brain involvement by MRI and minimal neuropsychologic findings (performance IQ >80) with a normal clinical neurologic examination.
HSCT is not recommended for individuals with severe neurologic and neuropsychologic dysfunction (i.e., performance IQ <80) [Shapiro et al 2000, Baumann et al 2003, Loes et al 2003, Peters et al 2004, Mahmood et al 2005, Resnick et al 2005].
### Surveillance
Adrenal function should be reevaluated periodically in males with X-ALD whose initial evaluation revealed normal adrenal cortical function [Dubey et al 2005]. With the institution of newborn screening, specific professional guidelines are being developed, but it is suggested that this be at least every six months.
Males with X-ALD should undergo brain MRI. It is presently recommended that this should start at age 12 months and be repeated yearly till age three. From age three to ten years, MRI should be performed every six months to monitor for early evidence of childhood cerebral disease [Peters et al 2004] because MRI abnormalities occur well in advance of clinical disease [Loes et al 2003]. Evidence clearly shows that HSCT has the best outcome when performed on an asymptomatic individual [Shapiro et al 2000, Peters et al 2004, Mahmood et al 2007]. Beyond age ten years the frequency of MRI should be yearly because of the development of cerebral changes in some males even in adulthood.
### Evaluation of Relatives at Risk
It is appropriate to evaluate the older and younger at-risk relatives of an affected individual in order to identify as early as possible those who would benefit from timely treatment of adrenal insufficiency before life-threatening complications occur [Mahmood et al 2005]. Such testing can also allow for correct diagnosis of early (and often nonspecific) neurologic, behavioral, and/or cognitive signs and symptoms.
If born in the United States, males affected with X-ALD may be diagnosed by universal newborn screening soon after birth. If newborn screening data are not available for at-risk sibs, several diagnostic approaches can be considered.
* If the ABCD1 pathogenic variant in the family is known, molecular genetic testing can be used to clarify the genetic status of at-risk relatives.
* If the ABCD1 pathogenic variant in the family is not known, very long chain fatty acid analysis may be used with the limitations previously discussed to clarify the disease status of at-risk relatives.
See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.
### Therapies Under Investigation
In a single-arm study of presymptomatic boys with a normal MRI, reduction of hexacosanoic acid (C26:0) by Lorenzo's oil was associated with a reduced risk of developing MRI abnormalities and, therefore, childhood cerebral disease. The authors emphasized that the effectiveness of therapy depended on reduction of C26:0 and that the amount of reduction correlated with lowered risk. Despite this reduction, some individuals still developed childhood cerebral disease. It is emphasized that the study was an open trial without a placebo group; thus, the results should be interpreted with some caution. The use of Lorenzo's oil remains an investigational therapy [Moser et al 2005].
A trial of ex vivo gene therapy is ongoing [Eichler et al 2017]. This multicenter trial is using transfected hematopoietic stem cells to compare the efficacy of this approach to traditional allogeneic HSCT. Based on recent preliminary results the authors report that Lenti-D gene therapy may be a safe and effective alternative to allogeneic stem-cell transplantation in boys with early-stage cerebral disease.
Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for information on clinical studies for a wide range of diseases and conditions.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
X-Linked Adrenoleukodystrophy
|
c0162309
| 28,077 |
gene_reviews
|
https://www.ncbi.nlm.nih.gov/books/NBK1315/
| 2021-01-18T20:49:19 |
{"mesh": ["D000326"], "synonyms": ["X-ALD"]}
|
Complement component 3 deficiency is a rare, genetic, primary immunodeficiency characterized by susceptibility to infection (mainly by gram negative bacteria) due to extremely low C3 plasma levels. Patients typically present recurrent episodes of sinusitis, tonsillitis, and/or otitis, as well as upper and lower respiratory tract infections (including pneumonia) and skin infections, such as erythema multiforme. Autoimmune disease resembling systemic lupus erythematosus and mesangiocapillary or membranoproliferative glomerulonephritis may develop, resulting in renal failure.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Complement component 3 deficiency
|
c3151071
| 28,078 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=280133
| 2021-01-23T19:01:13 |
{"gard": ["10625", "10626", "9521", "9526"], "mesh": ["C565169"], "omim": ["613779"], "umls": ["C3151071"], "icd-10": ["D84.1"], "synonyms": ["C3 deficiency"]}
|
X-linked recessive hypoparathyroidism (XLHPT) is a very rare cause of hypoparathyroidism. It has been reported in two multigeneration families from Missouri. Affected males suffer from true neonatal idiopathic hypoparathyroidism leading to severe hypocalcemia with undetectable parathyroid hormone levels and epilepsy. They are also sterile. Carrier females are normocalcemic and asymptomatic. XLHPT is caused by congenital parathyroid gland agenesis. The XLHPT locus has been mapped to chromosome Xq26-q27, in a 1.5 Mb interval flanked by markers F9 and DXS984. Neonatal onset and parathyroid agenesis found at autopsy in one of the patients suggest that the gene involved in XLHPT plays a role in parathyroid gland development.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
|
c1832648
| 28,079 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2239
| 2021-01-23T18:52:07 |
{"mesh": ["C537156"], "omim": ["146200", "307700"], "icd-10": ["E20.8"]}
|
A number sign (#) is used with this entry because of evidence that multiple types of congenital heart defects (CHTD5) are caused by heterozygous mutation in the GATA5 gene (611496) on chromosome 20q13. Biallelic mutations have been reported in 2 patients (see MOLECULAR GENETICS).
For a discussion of genetic heterogeneity of multiple types of congenital heart defects, see 306955.
Clinical Features
Jiang et al. (2013) reported 4 Han Chinese probands with congenital heart disease and mutations in the GATA5 gene, 3 of whom had affected family members. Cardiac defects included atrial septal defect (ASD), ventricular septal defect (VSD), double-outlet right ventricle (DORV), tetralogy of Fallot (TOF), and aortic stenosis (AS). Intrafamilial phenotypic variability was demonstrated in 1 family (family 2), in which affected members had VSD, DORV, and/or TOF. Atrial fibrillation (AF) was also documented in 2 affected members of 1 of the families.
Wei et al. (2013) studied a Han Chinese family in which 5 members over 3 generations had subarterial VSD. In addition, 2 of the affected individuals had DORV, and 1 had AS.
Shi et al. (2014) reported 2 Han Chinese families segregating autosomal dominant bicuspid aortic valve (BAV) and mutations in the GATA5 gene. Affected family members also exhibited other cardiac defects, including VSD and AS, and 2 patients had documented AF.
Inheritance
Jiang et al. (2013) reported 4 affected members over 3 generations of a Han Chinese family with multiple types of congenital heart defects and heterozygous mutations in the GATA5 gene, consistent with autosomal dominant inheritance.
Two patients with biallelic mutations in GATA5 have been reported (see MOLECULAR GENETICS).
Molecular Genetics
In a cohort of 130 unrelated Han Chinese patients with familial AF, Yang et al. (2012) sequenced the GATA5 gene and identified heterozygous missense mutations in 3 of the probands. Congenital heart disease was documented in affected members of 2 of the families, including ASD and VSD. The mutations segregated fully with disease in 2 of the families; in the third family, the youngest mutation-positive individual did not show AF on a 24-hour monitoring, which the authors noted might have been an insufficient length of time to detect paroxysmal AF. Functional analysis of the variants was not reported. The authors concluded that GATA5 variants predispose to AF.
In a cohort of 110 unrelated Han Chinese patients with familial AF, Gu et al. (2012) sequenced the GATA5 gene and identified heterozygous missense mutations in 2 of the probands. The presence or absence of structural cardiac defects in affected family members was not reported. The mutations, which segregated with disease in the families and were not found in controls or public variant databases, showed significantly reduced transcriptional activation compared to wildtype GATA. The authors concluded that dysfunctional GATA5 confers susceptibility to AF.
In a cohort of 320 unrelated Han Chinese patients with congenital heart disease, Jiang et al. (2013) analyzed the GATA5 gene and identified heterozygous missense mutations (see, e.g., 611496.0001) in 4 probands. The mutations segregated fully with disease in 3 of the families, and none of the mutations were found in 200 ethnically matched controls. In 1 family, the proband inherited the mutation from her apparently unaffected father, which the authors stated might be due to spontaneous closure of a minor cardiac defect, incomplete penetrance, or epigenetic or environmental factors.
In a cohort of 120 unrelated Han Chinese patients with VSD, Wei et al. (2013) sequenced the GATA5 gene and identified 1 proband with a heterozygous missense mutation (L199V; 611496.0002). The mutation segregated fully with disease in the family and was not found in 200 ethnically matched controls or the dbSNP database. Functional analysis demonstrated significantly reduced transcriptional activation with the L199V mutant compared to wildtype GATA5, and the mutant showed a dominant-negative effect on the wildtype protein.
In a cohort of 118 unrelated Han Chinese patients with lone AF, Wang et al. (2013) sequenced the GATA5 gene and identified 1 proband with a heterozygous missense mutation (W200G; 611496.0003). The mutation segregated fully with disease in the proband's family and was not found in controls. ASD had been documented in 2 affected family members, and the authors noted that other affected family members might have had cardiac structural defects that closed spontaneously after birth.
In a cohort of 110 unrelated Han Chinese patients with BAV, Shi et al. (2014) sequenced the GATA5 gene and identified 2 probands with a heterozygous missense mutation (see, e.g., 611496.0004). The mutations segregated fully with disease in each family and neither was found in 200 ethnically matched controls or in public variant databases. Affected family members also exhibited other cardiac defects, including VSD and AS, and 2 patients had documented AF.
In a cohort of 130 unrelated Han Chinese patients diagnosed with dilated cardiomyopathy (CMD), Zhang et al. (2015) analyzed the GATA5 gene and identified a heterozygous missense mutation that segregated with disease in 1 family, in which 2 affected members also had VSD, 1 had atrioventricular block, and 1 had paroxysmal atrial fibrillation.
### Possible Biallelic Inheritance
In 185 consecutive pediatric or adolescent Lebanese patients with a diagnosis of congenital heart disease, Kassab et al. (2016) screened the GATA4 (600576), GATA5, and GATA6 (601656) genes and identified 8 missense variants in GATA5, only 1 of which appeared potentially pathogenic: a Y142H (rs111554140) substitution that was found in homozygosity in a patient with DORV, VSD, and mild pulmonary stenosis (PS). The healthy parents, who had normal cardiac structure and function on echocardiography, were heterozygous for the variant, which was not found in 150 Lebanese controls but was present in the ExAC database with a minor allele frequency (MAF) of 0.002035. Functional analysis showed that the Y142H mutant had approximately one-third of the transactivation activity of the wildtype protein. The authors noted that Y142H had previously been reported by Padang et al. (2012) in heterozygosity in a Caucasian man with apparently sporadic BAV, who underwent aortic valve replacement at age 28 years for severe aortic stenosis, as well as ascending aorta replacement at age 58 for progressive aneurysm.
Hempel et al. (2017) studied a 2-year-old girl, born of a dichorionic diamniotic twin pregnancy, who had hydrops fetalis and ascites as well as VSD, ASD, and patent ductus arteriosus (PDA), and developed mild hypertrophic cardiomyopathy within the first few weeks of life. She also showed clitoromegaly with signs of virilization, and had cysts on the right ovary and a gallstone. Trio whole-exome sequencing of the proband and her parents revealed compound heterozygosity for missense mutations in the GATA5 gene, S19W and R202Q, in the proband. Her unaffected parents were each heterozygous for 1 of the mutations, as was her healthy twin sister. The authors noted that the S19W variant had previously been reported in a 28-year-old man with apparently sporadic BAV and trivial regurgitation by Padang et al. (2012). Both variants were present in heterozygosity in the ExAC database, with MAFs of 0.02069 and 0.00006955 for S19W and R202Q, respectively. Functional analysis demonstrated that neither variant could rescue the cardia bifida phenotype in gata5-deficient zebrafish morphants, and both showed mislocalization and reduced transcriptional activity compared to wildtype GATA5. Endocrinologic evaluation in the 2-year-old proband revealed elevated 17-hydroxyprogesterone levels. Noting that GATA5 was known to regulate expression of the progesterone receptor (Huggins et al., 2006), Hempel et al. (2017) suggested that the patient's clitoromegaly and elevated 17-hydroxyprogesterone levels might have resulted from aberrant regulation of progesterone levels and signaling during embryogenesis.
INHERITANCE \- Autosomal dominant \- Autosomal recessive CARDIOVASCULAR Heart \- Atrial septal defect \- Ventricular septal defect \- Double-outlet right ventricle \- Tetralogy of Fallot \- Bicuspid aortic valve \- Aortic stenosis \- Atrial fibrillation \- Second-degree atrioventricular block (rare) \- Dilated cardiomyopathy (in some patients) MISCELLANEOUS \- Intrafamilial phenotypic variability \- Incomplete penetrance \- Biallelic mutations have been reported in 2 patients MOLECULAR BASIS \- Caused by mutation in the GATA-binding protein-5 gene (GATA5, 611496.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5
|
c4693563
| 28,080 |
omim
|
https://www.omim.org/entry/617912
| 2019-09-22T15:44:26 |
{"omim": ["617912"]}
|
Brugada syndrome
Other namesSudden unexplained nocturnal death syndrome, bangungut, pokkuri death syndrome[1]
Typical type 1 ECG changes seen in Brugada syndrome
SpecialtyCardiology
SymptomsPassing out, sudden cardiac death[2]
Usual onsetAdulthood[2]
CausesGenetics, certain medication[2]
Risk factorsFamily history, Asian descent, male[1][2]
Diagnostic methodElectrocardiogram (ECG), genetic testing[2][3]
Differential diagnosisRomano-Ward syndrome, arrhythmogenic cardiomyopathy, Duchenne muscular dystrophy[3]
TreatmentWatchful waiting, implantable cardioverter defibrillator (ICD)[3][4]
Frequency1 per 2000[1]
Deaths8% of sudden cardiac death[2]
Brugada syndrome (BrS) is a genetic disorder in which the electrical activity within the heart is abnormal.[2] It increases the risk of abnormal heart rhythms and sudden cardiac death.[2] Those affected may have episodes of passing out.[2] The abnormal heart rhythms seen in those with Brugada syndrome often occur at rest.[1][5] They may be triggered by a fever.[1][5]
About a quarter of those with Brugada syndrome have a family member who also has the condition.[2] Some cases may be due to a new genetic mutation or certain medications.[1] The most commonly involved gene is SCN5A which encodes the cardiac sodium channel.[6] Diagnosis is typically by electrocardiogram (ECG), however, the abnormalities may not be consistently present.[2] Medications such as ajmaline may be used to reveal the ECG changes.[2] Similar ECG patterns may be seen in certain electrolyte disturbances or when the blood supply to the heart has been reduced.[7]
There is no cure for Brugada syndrome.[3] Those at higher risk of sudden cardiac death may be treated using an implantable cardioverter defibrillator (ICD).[4] In those without symptoms the risk of death is much lower, and how to treat this group is less clear.[3][8] Isoproterenol may be used in the short term for those who have frequent life-threatening abnormal heart rhythms, while quinidine may be used longer term.[3][9] Testing people's family members may be recommended.[3]
The condition affects between 1 and 30 per 10,000 people.[2] It is more common in males than females and in those of Asian descent.[1][2] The onset of symptoms is usually in adulthood.[2] It is named after the Catalan cardiologists Pedro and Josep Brugada who described the condition in 1992.[3][10] Their brother Ramon Brugada was the first to describe one potential genetic cause in 1998.[11]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 2.1 Genetics
* 3 Mechanisms
* 4 Diagnosis
* 4.1 Electrocardiography
* 4.2 Provocation testing
* 4.3 Genetic testing
* 4.4 Other investigations
* 5 Treatment
* 5.1 Lifestyle
* 5.2 Implantable defibrillator
* 5.3 Medication
* 5.4 Catheter ablation
* 6 Epidemiology
* 7 History
* 8 Society and culture
* 9 See also
* 10 References
* 11 External links
## Signs and symptoms[edit]
While many of those with Brugada syndrome do not have any symptoms, Brugada syndrome may cause fainting or sudden cardiac death due to serious abnormal heart rhythms such as ventricular fibrillation or polymorphic ventricular tachycardia.[8] Blackouts may be caused by brief abnormal heart rhythms that revert to a normal rhythm spontaneously. If a dangerous heart rhythm does not stop by itself and is left untreated, the person may have a fatal cardiac arrest. However, blackouts can occur in those with Brugada syndrome despite a normal heart rhythm due to a sudden drop in blood pressure, known as vasovagal syncope.[2]
The abnormal heart rhythms seen in Brugada syndrome often occur at rest, following a heavy meal, or even during sleep.[5] These situations are linked to periods when the vagus nerve is activated, referred to as periods of high vagal tone. Abnormal heart rhythms may also occur during fever or following excessive alcohol. Certain medications may also worsen the tendency to abnormal heart rhythms in patients with Brugada syndrome and should be avoided by these patients.[12]
## Causes[edit]
The individual cells of the heart communicate with each other with electrical signals, and these electrical signals are disrupted in those with Brugada syndrome. As a genetic condition, the syndrome is ultimately caused by changes to a person's DNA, known as genetic mutations. The first mutations described in association with Brugada syndrome were in a gene responsible for a protein or ion channel that controls the flow of sodium ions through the cell membrane of heart muscle cells – the cardiac sodium channel. Many of the genetic mutations that have subsequently been described in association with Brugada syndrome influence the sodium current in some way, or affect other ionic currents.[7]
A long list of factors that can generate a Brugada ECG pattern have been described, including certain medications, electrolyte disturbances such as a decrease in the levels of potassium in the blood, and a reduction in blood supply to key areas of the heart, specifically the right ventricular outflow tract.[7] Drugs that have been implicated include antiarrhythmic medications such as flecainide, verapamil and propranolol, antidepressants such as amitryptiline, and drugs that enhance vagal tone such as acetylcholine. The ECG pattern can also be seen following excessive use of alcohol or cocaine.[7]
### Genetics[edit]
Brugada syndrome is inherited in an autosomal dominant manner, meaning that only one copy of the defective gene is needed to produce the syndrome. However, a person diagnosed with the condition may be the first in their family to have Brugada syndrome if it has arisen as a new mutation.[5] The gene in which mutations are most commonly found in Brugada syndrome, known as SCN5A, is responsible for the cardiac sodium channel. Mutations in SCN5A associated with Brugada syndrome generally cause the flow of sodium ions to decrease. However, only 20% of cases of Brugada syndrome are associated with mutations in SCN5A, as in the majority of patients with Brugada syndrome genetic testing is unable to identify the genetic mutation responsible.[5] Over 290 mutations in the SCN5A gene have been discovered to date, each altering sodium channel function in subtly different ways.[13] This variation partially explains the differences in severity of the condition between different persons, ranging from a highly dangerous condition causing death at a young age to a benign condition that may not cause any problems at all. However, the genetics of Brugada syndrome are complex, and it is likely that the condition results from the interactions of many genes. Because of these complex interactions, some members of a family who carry a particular mutation may show evidence of Brugada syndrome while other carrying the same mutation may not, referred to as variable penetrance.[14]
Several other genes have been identified in association with Brugada syndrome. Some are responsible for other proteins that form part of the sodium channel, known as sodium channel β subunits (SCN1B, SCN2B, SCN3B) while others form different types of sodium channel (SCN10A). Some genes encode ion channels that carry calcium or potassium ions (CACNA1C, CACNB2, KCND3, KCNE3, KCNJ8),[15] while others generate proteins that interact with ion channels. (GPD1L, PKP2, MOG1, FGF12). Another gene associated with this condition is RRAD.[16] The genes associated with Brugada syndrome and their description include:
Type OMIM Gene Notes
BrS1 601144 SCN5A NaV1.5 – α subunit of the cardiac sodium channel carrying the sodium current INa.[6]
BrS2 611778 GPD1L Glycerol-3-phosphate dehydrogenase like peptide – reduced GPD1-L activity leads to phosphorylation of NaV1.5 and decreased INa.[6]
BrS3 114205 CACNA1C CaV1.2 – α subunit of voltage-dependent calcium channel carrying the L-type calcium current ICa(L). [17]
BrS4 600003 CACNB2 CaVβ2B – β-2 subunit of the voltage-gated calcium channel carrying the L-type calcium current ICa(L).[17]
BrS5 600235 SCN1B NaVβ1 – β-1 subunit of the sodium channel carrying the sodium current INa.[17]
BrS6 604433 KCNE3 MiRP2 – β subunit to voltage-gated potassium channels. Modulates the transient outward potassium current Ito. [17]
BrS7 608214 SCN3B NaVβ3 – β-3 subunit of the cardiac sodium channel carrying the sodium current INa.[6]
BrS8 600935 KCNJ8 Kir6.1, carries the inward rectifier potassium current IKir.[6]
BrS9 114204 CACNA2D1 α2δ subunit of the voltage-gated calcium channel carrying the L-type calcium current ICa(L).[6]
BrS10 605411 KCND3 KV4.3, α-subunit of the transient outward potassium channel Ito.[6]
BrS11 607954 RANGRF Encodes MOG1 – influences trafficking of NaV1.5.[6]
BrS12 602701 SLMAP Sarcolemmal membrane–associated protein, a component of T-tubules and the sarcoplasmic reticulum – influences trafficking of NaV1.5.[6]
BrS13 601439 ABCC9 SUR2A, the adenosine triphosphate (ATP)-binding cassette transporter of the IK(ATP) channel.[6]
BrS14 601327 SCN2B NaVβ2 – Beta-2 subunit of the cardiac sodium channel carrying the sodium current INa.[6]
BrS15 602861 PKP2 Plakophillin-2 – interacts with INa.[6]
BrS16 601513 FGF12 Fibroblast growth factor homologous factor-1 – mutation decreases INa.[6]
BrS17 604427 SCN10A NaV1.8 – α subunit of the neuronal sodium channel. [17]
BrS18 604674 HEY2 Transcription factor identified in genome-wide association study.[6]
BrS19 603961 SEMA3A Semaphorin.[6]
BrS20 601142 KCNAB2 KVβ2, voltage-gated potassium channel β2 subunit - mutation increases Ito. [17]
Some mutations associated with Brugada syndrome can also cause other heart conditions. Those who show more than one cardiac conditions at the same time caused by a single mutation are described as having an 'overlap syndrome'. An example of an overlap syndrome is Brugada and long QT syndrome (LQT3) caused by a mutation in SCN5A that reduces the peak sodium current but simultaneously leaves a persistent current leak.[7] Brugada syndrome has been described as overlapping with arrhythmogenic right ventricular cardiomyopathy (ARVC) caused by a mutation in the PKP2 gene, causing a Brugada ECG pattern but structural changes in the heart characteristic of ARVC.[18]
## Mechanisms[edit]
Adjacent regions of cardiac tissue with differing refractory periods can lead to a normally smooth wavefront of depolarisation undergoing wavebreak leading to re-entrant arrhythmias
The abnormal heart rhythms seen in those with Brugada syndrome are typically dangerous arrhythmias such as ventricular fibrillation or polymorphic ventricular tachycardia, but those with BrS are also more likely to experience rapid heart rates due to less dangerous arrhythmias such as AV nodal re-entrant tachycardia[19] and abnormally slow heart rhythms such as sinus node dysfunction.[20] There are several mechanisms by which the genetic mutations causing this condition might produce these arrhythmias.[21]
Some argue that the main reason these arrhythmias arise is due to abnormally slow electrical conduction in areas of the heart, specifically the right ventricle. The genetic variants associated with BrS support the concept as SCN5A, the gene most commonly associated with the condition, along with SCN10A, SCN1B, SCN2B and SCN3B, all directly affect the sodium current INa. The sodium current is a major contributor to the characteristic flow of electrical charge across the membrane of heart muscle cells that occurs with each heartbeat known as the action potential. INa causes the initial rapid upstroke of the action potential (phase 0), and decreasing the early peak current, as occurs in BrS-associated genetic variants, leads to slowing of the electrical conduction through the heart muscle. [7] This slow conduction allows 'short circuits' to form, blocking the waves of electrical activity in some areas while allowing the waves to pass in others in a phenomenon known as wavebreak. Given the right circumstances, this wavebreak can allow the waves of electricity to perform a U-turn within the muscle, travelling in the reverse direction before beginning to rapidly circle around a point, referred to as re-entry, and causing an abnormal heart rhythm.[7] Those who support this view (known as the depolarisation hypothesis) argue that conduction slowing may explain why arrhythmias in those with Brugada syndrome tend to occur in middle age, when other factors such as scarring or fibrosis that accompany old age have exacerbated the tendency to conduction slowing caused by the genetic mutation.[21]
Others suggest that the main cause of arrhythmias is a difference in the electrical properties between the inside (endocardium) and outside (epicardium) of the heart (known as the repolarisation hypothesis).[7] The shape of the action potential differs between the epicardium and the endocardium. The action potential in cells from the epicardium shows a prominent notch after the initial spike due to a transient inward current. This notch is far less evident in cells from the endocardium, and the difference between the endocardium and epicardium are most clearly seen in the right ventricle. In those with Brugada syndrome, these differences are increased, creating a brief period within each cardiac cycle when current flows from the endocardium to the epicardium creating the characteristic ECG pattern. The differences in electrical properties between the epi- and endocardium are described as a 'transmural dispersion of repolarisation" which if large enough can lead to electrical impulses becoming blocked in some regions but not others. Once again, this wavebreak can allow the waves of electricity which usually travel in only one direction to instead begin circling around a point as a re-entrant circuit, causing an arrhythmia.[7]
A further factor promoting arrhythmias in Brugada syndrome is changes to the structure of the heart.[21] Whilst the heart of those with Brugada syndrome may look normal, scarring or fibrosis is often seen in particular regions of the heart, specifically the right ventricular outflow tract. As Brugada syndrome can be caused by mutation in many different genes, it is possible that different mechanisms may be responsible for the arrhythmias seen in different patients.[21]
## Diagnosis[edit]
### Electrocardiography[edit]
ECG pattern in Brugada syndrome. According to consensus guidelines, Type 1 ST segment elevation, either spontaneously present or induced with the sodium channel-blocker challenge test, is considered diagnostic. Type 2 and 3 may lead to suspicion, but provocation testing is required for diagnosis. The ECGs in the right and left panels are from the same patient before (right panel, type 3) and after (left panel, type 1) administration of Ajmaline.
Brugada syndrome is diagnosed by identifying characteristic patterns on an electrocardiogram.[12] The pattern seen on the ECG includes ST elevation in leads V1-V3 with a right bundle branch block (RBBB) appearance. There may be evidence of a slowing of electrical conduction within the heart, as shown by a prolonged PR interval. These patterns may be present all the time, but may appear only in response to particular drugs (see below), when the person has a fever, during exercise, or as a result of other triggers. The ECG pattern may become more obvious by performing an ECG in which some of the electrodes are placed in different positions from usual.[22]
Three forms of the Brugada ECG pattern have been described[12]
* Type 1 has a coved type ST elevation with at least 2 mm (0.2 mV) J-point elevation and a gradually descending ST segment followed by a negative T-wave.
* Type 2 has a saddle-back pattern with at least 2 mm J-point elevation and at least 1 mm ST elevation with a positive or biphasic T-wave. Type 2 pattern can occasionally be seen in healthy subjects.
* Type 3 has either a coved (type 1 like) or a saddle-back (type 2 like) pattern, with less than 2 mm J-point elevation and less than 1 mm ST elevation. Type 3 pattern is not rare in healthy subjects.
According to current recommendations, only a Type 1 ECG pattern, occurring either spontaneously or in response to medication, can be used to confirm the diagnosis of Brugada syndrome as Type 2 and 3 patterns are not infrequently seen in persons without the disease.[8]
### Provocation testing[edit]
Some medications, particularly antiarrhythmic drugs that block the cardiac sodium current INa, can reveal a Type 1 Brugada pattern in susceptible people. These drugs can be used to help make a diagnosis in those suspected of having Brugada syndrome (e.g. survivors of an unexplained cardiac arrest, family members of a person with Brugada syndrome) but in whom a diagnostic ECG pattern has not been seen.[2] In these cases, sodium current blocking medications can be given in a controlled environment.[22] The most commonly used drugs for this purpose are ajmaline, flecainide, and procainamide, with some suggestions indicating that ajmaline may be the most effective.[23] Precaution must be taken in giving these medications as there is a small risk of causing abnormal heart rhythms.[22]
### Genetic testing[edit]
Genetic testing can be helpful to identify patients with Brugada syndrome, most commonly in family members of a person with Brugada syndrome, but sometimes performed in a person who has died suddenly and unexpectedly.[5] However, interpretation of the results of genetic testing is challenging. In family members who all carry a particular genetic variant associated with Brugada syndrome, some family members may show evidence of Brugada syndrome on their ECGs while others may not.[5] This means that carrying a genetic mutation associated with Brugada syndrome does not necessarily imply that a person is truly affected by the condition. To further complicate matters, many frequently occurring variations in the SCN5A gene do not cause any problems, and therefore genetic variants are sometimes identified in persons with Brugada syndrome that are not truly causing the disease.[24]
### Other investigations[edit]
Invasive electrophysiological studies, in which wires are passed through a vein to stimulate and record electrical signals from the heart, can sometimes be used to assess the risk of a person with Brugada syndrome experiencing dangerous abnormal heart rhythms.[25] Risk stratification is also sometimes performed using a signal averaged ECG.[5] Ambulatory ECG monitoring, including implantation of a loop recorder, is sometimes used to assess whether dizziness or faints in a person with Brugada syndrome are due to abnormal heart rhythms or other causes such as vasovagal syncope.[26]
* Type 1 Brugada ECG pattern (note non-standard lead position, V5 is placed one intercostal space above V1 and V6 is placed one intercostal space above V2)..
* Type 2 Brugada ECG pattern
## Treatment[edit]
Labelled sketch of an already-implanted cardioverter-defibrillator
The main aim when treating people with Brugada syndrome is to reduce the risk of sudden death due to serious abnormal heart rhythms such as ventricular fibrillation or polymorphic ventricular tachycardia.[27] While some with this condition are at high risk of serious heart rhythm disturbances, others are at much lower risk, meaning that some may require more intensive treatment than others.[8] In addition to treating the person who has Brugada syndrome, it is often important to investigate members of their immediate family to see if they too carry the condition.[8]
### Lifestyle[edit]
The first line of treatment, suitable for all people with Brugada syndrome regardless of their risk of arrhythmias, is lifestyle advice.[8] People should be advised to recognise and avoid things that may increase the risk of serious arrhythmias. These include avoiding excessive alcohol consumption, avoiding certain medications,[12] and treating fever promptly with paracetamol.[8] Although the abnormal heart rhythms seen in Brugada syndrome are generally more likely to occur at rest or even during sleep, some people with Brugada syndrome experience arrhythmias during strenuous exercise. Some physicians may therefore advise people with Brugada syndrome that while gentle exercise is helpful, very strenuous exercise should be avoided.[28][29]
### Implantable defibrillator[edit]
In people felt to be at higher risk of sudden cardiac death, an implantable cardioverter-defibrillator (ICD) may be recommended.[8] These small devices implanted under the skin continuously monitor the heart rhythm. If the device detects a potentially life-threatening arrhythmia it can give the heart a small electric shock, stunning the heart back into a normal rhythm.[30] An ICD can also function as a pacemaker, preventing abnormally slow heart rates that can also occur in people with Brugada syndrome.
Implanting an ICD is a relatively low-risk procedure and is frequently performed as a day case under local anaesthetic.[30] However, complications such as infection, bleeding or unnecessary shocks can occur, which can sometimes be serious.[31] Because of the small risk associated with implanting an ICD, as well as the cost of the devices, ICDs are not recommended for all people with Brugada syndrome but are instead reserved for people deemed at higher risk of sudden cardiac death.[8]
### Medication[edit]
Quinidine is an antiarrhythmic drug that may reduce the chance of serious abnormal heart rhythms occurring in some people with Brugada syndrome.[9][32] It is most frequently used in people with Brugada syndrome who have an ICD and have experienced several episodes of life-threatening arrhythmias, but may also be used in people at high risk of arrhythmias but in whom an ICD is not appropriate.[8]
Isoprenaline, a drug that has similarities with adrenaline, can be used in an emergency for people with Brugada syndrome who are having frequent repeated life-threatening arrhythmias, known as an "electrical storm".[8] This drug must be given as a continuous infusion into a vein and therefore is not suitable for long-term use.
### Catheter ablation[edit]
A further treatment option for people with Brugada syndrome is radiofrequency catheter ablation.[33] In this procedure, wires are passed through a vein in the leg into the heart, or through a small hole underneath the sternum. These wires are used to find the area of the heart responsible for initiating the arrhythmias. The tip of one of these wires is used to make a series of tiny burns, intentionally damaging the area of abnormal heart muscle that has been causing the problem. Current recommendations suggest that this treatment should be reserved for those with Brugada syndrome who have had repeated shocks from an ICD.[8]
## Epidemiology[edit]
Between 1 and 30 per 10,000 people are affected by Brugada syndrome.[1][2] Although those affected are born with the condition, symptoms typically only begin in adulthood. While the rare cases seen in childhood are equally likely to be male or female, in adulthood symptoms occur more frequently in males than females, potentially due to the higher testosterone levels found in men.[2][34]
Brugada syndrome is more common in people of Asian descent and is the most common cause of sudden death in young males without known underlying cardiac disease in Thailand and Laos.[2][35] In these countries Brugada syndrome is likely to be responsible for many cases of sudden unexpected nocturnal death syndrome (SUNDS). Local names vary – in the Philippines the condition has been known as Bangungut meaning "a scream followed by sudden death during sleep",[35] while in Thailand it was known as Lai Tai, and in Japan Pokkuri.[36][37] Type 1 Brugada ECG patterns are seen more frequently in Asian populations (0%–0.36%) than those in Europe (0%–0.25%) and the United States (0.03%). Similarly, Type 2 and Type 3 ECG patterns are more prevalent in Asia (0.12%–2.23%) than in Europe (0.0%–0.6%) or the United States (0.02%).[38]
## History[edit]
Brugada syndrome is named after the Spanish cardiologists Josep and Pedro Brugada who described the condition in 1992,[10] although the association between the characteristic ECG pattern and sudden cardiac death had been reported in 1989.[39] Brugada syndrome was described as a cause for the sudden unexplained cardiac death syndrome seen in Thai men in 1997.[37] The first genetic mutations affecting the SCN5A gene associated with the syndrome were identified by their brother Ramon Brugada in 1998,[40] with many more mutations affecting at least 19 genes subsequently identified by others.[13] Studies in the 2000s led to competing theories surrounding the mechanisms by which abnormal heart rhythms were generated.[11] Research into Brugada syndrome is ongoing, identifying new genetic variants, exploring mechanisms of arrhythmias, and searching for better treatments.[11]
## Society and culture[edit]
* A 1992 segment of the television series Unsolved Mysteries profiled the Guamanian Santos family that had lost various members due to heart issues. Surviving members of the family were ultimately diagnosed with Brugada syndrome.[41][42]
* The British television soap opera EastEnders featured a storyline in which one of the characters suffered a cardiac arrest due to Brugada syndrome.[43]
## See also[edit]
* Catecholaminergic polymorphic ventricular tachycardia
## References[edit]
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41. ^ "Season 4, Episode: 24." Unsolved Mysteries: Original Robert Stack Episodes. Amazon.com. Cosgrove/Meurer Productions, Apr. 2017. Web. 14 April 2017.
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## External links[edit]
Classification
D
* ICD-10: I49.8
* ICD-9-CM: 746.89
* OMIM: 601144
* MeSH: D053840
* DiseasesDB: 31999
* SNOMED CT: 418818005
External resources
* eMedicine: med/3736
* Orphanet: 130
* BrugadaDrugs.org, contains a list of drugs to avoid in people with the Brugada syndrome
* GeneReviews: Brugada syndrome
* v
* t
* e
Diseases of ion channels
Calcium channel
Voltage-gated
* CACNA1A
* Familial hemiplegic migraine 1
* Episodic ataxia 2
* Spinocerebellar ataxia type-6
* CACNA1C
* Timothy syndrome
* Brugada syndrome 3
* Long QT syndrome 8
* CACNA1F
* Ocular albinism 2
* CSNB2A
* CACNA1S
* Hypokalemic periodic paralysis 1
* Thyrotoxic periodic paralysis 1
* CACNB2
* Brugada syndrome 4
Ligand gated
* RYR1
* Malignant hyperthermia
* Central core disease
* RYR2
* CPVT1
* ARVD2
Sodium channel
Voltage-gated
* SCN1A
* Familial hemiplegic migraine 3
* GEFS+ 2
* Febrile seizure 3A
* SCN1B
* Brugada syndrome 6
* GEFS+ 1
* SCN4A
* Hypokalemic periodic paralysis 2
* Hyperkalemic periodic paralysis
* Paramyotonia congenita
* Potassium-aggravated myotonia
* SCN4B
* Long QT syndrome 10
* SCN5A
* Brugada syndrome 1
* Long QT syndrome 3
* SCN9A
* Erythromelalgia
* Febrile seizure 3B
* Paroxysmal extreme pain disorder
* Congenital insensitivity to pain
Constitutively active
* SCNN1B/SCNN1G
* Liddle's syndrome
* SCNN1A/SCNN1B/SCNN1G
* Pseudohypoaldosteronism 1AR
Potassium channel
Voltage-gated
* KCNA1
* Episodic ataxia 1
* KCNA5
* Familial atrial fibrillation 7
* KCNC3
* Spinocerebellar ataxia type-13
* KCNE1
* Jervell and Lange-Nielsen syndrome
* Long QT syndrome 5
* KCNE2
* Long QT syndrome 6
* KCNE3
* Brugada syndrome 5
* KCNH2
* Short QT syndrome
* KCNQ1
* Jervell and Lange-Nielsen syndrome
* Romano–Ward syndrome
* Short QT syndrome
* Long QT syndrome 1
* Familial atrial fibrillation 3
* KCNQ2
* BFNS1
Inward-rectifier
* KCNJ1
* Bartter syndrome 2
* KCNJ2
* Andersen–Tawil syndrome
* Long QT syndrome 7
* Short QT syndrome
* KCNJ11
* TNDM3
* KCNJ18
* Thyrotoxic periodic paralysis 2
Chloride channel
* CFTR
* Cystic fibrosis
* Congenital absence of the vas deferens
* CLCN1
* Thomsen disease
* Myotonia congenita
* CLCN5
* Dent's disease
* CLCN7
* Osteopetrosis A2, B4
* BEST1
* Vitelliform macular dystrophy
* CLCNKB
* Bartter syndrome 3
TRP channel
* TRPC6
* FSGS2
* TRPML1
* Mucolipidosis type IV
Connexin
* GJA1
* Oculodentodigital dysplasia
* Hallermann–Streiff syndrome
* Hypoplastic left heart syndrome
* GJB1
* Charcot–Marie–Tooth disease X1
* GJB2
* Keratitis–ichthyosis–deafness syndrome
* Ichthyosis hystrix
* Bart–Pumphrey syndrome
* Vohwinkel syndrome)
* GJB3/GJB4
* Erythrokeratodermia variabilis
* Progressive symmetric erythrokeratodermia
* GJB6
* Clouston's hidrotic ectodermal dysplasia
Porin
* AQP2
* Nephrogenic diabetes insipidus 2
See also: ion channels
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Brugada syndrome
|
c1142166
| 28,081 |
wikipedia
|
https://en.wikipedia.org/wiki/Brugada_syndrome
| 2021-01-18T18:55:57 |
{"gard": ["1030"], "mesh": ["D053840"], "umls": ["C1721096", "C1142166"], "icd-9": ["746.89"], "orphanet": ["130"], "wikidata": ["Q599683"]}
|
Partial monosomy of the long arm of chromosome 9 characterized by intellectual disability, developmental delay with pronounced speech delay, short stature, and muscular hypotonia. Common craniofacial dysmorphic features consist of microcephaly, prominent forehead, round face, arched eyebrows, upslanting palpebral fissures, strabismus, short nose, and thin upper lip. Other clinical findings include epilepsy, ataxia, unspecific brain MRI findings, early-onset primary dystonia, nail dysplasia, and bone malformations, in particular patellar abnormalities, epistaxis, and cutaneous-mucous telangiectasias.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
9q33.3q34.11 microdeletion syndrome
|
None
| 28,082 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=495818
| 2021-01-23T19:06:24 |
{"synonyms": ["Del(9)(q33.3q34.11)", "Deletion 9q33.3q34.11", "Monosomy 9q33.3q34.11"]}
|
Ocular dysmetria
SpecialtyOphthalmology
Differential diagnosislesion in cerebellum
Ocular dysmetria is a form of dysmetria that involves the constant under- or over-shooting of the eyes when attempting to focus gaze on something.[1]
Ocular dysmetria indicates lesions in the cerebellum, which is the brain region responsible for coordinating movement. It is a symptom of several neurological conditions including multiple sclerosis.
It is a condition that can cause symptoms similar to sea sickness.
## References[edit]
1. ^ "Ocular Dysmetria - multiple sclerosis encyclopaedia". www.mult-sclerosis.org. Retrieved 22 October 2018.
This article about the eye is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
This medical symptom article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Ocular dysmetria
|
c0234649
| 28,083 |
wikipedia
|
https://en.wikipedia.org/wiki/Ocular_dysmetria
| 2021-01-18T18:37:00 |
{"wikidata": ["Q16908946"]}
|
This article is an orphan, as no other articles link to it. Please introduce links to this page from related articles; try the Find link tool for suggestions. (October 2013)
Trapeziometacarpal osteoarthritis
Other namesCarpometacarpal (CMC) osteoarthritis (OA) of the thumb, osteoarthritis at the base of the thumb
Osteoarthritis of the first carpometacarpal joint
SpecialtyPlastic surgery
Trapeziometacarpal osteoarthritis, also known as osteoarthritis at the base of the thumb or as rhizarthrosis, is a reparitive joint disease affecting the first carpometacarpal joint (CMC1).[1] This joint is formed by the trapezium bone of the wrist and the first metacarpal bone of the thumb. Because of its relative instability, this joint is a frequent site for osteoarthritis.[2] Carpometacarpal osteoarthritis (CMC OA) of the thumb occurs when the cushioning cartilage of the joint surfaces wears away, resulting in damage of the joint.[1][3]
The main complaint of patients is pain.[4][5] Pain at the base of the thumb occurs when moving the thumb and might eventually persist at rest.[4][5] Other symptoms include stiffness, swelling and loss of strength of the thumb.[4][5] Treatment options include conservative and surgical therapies.[6]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 2.1 Risk factors
* 3 Anatomy
* 4 Diagnosis
* 4.1 Classification
* 5 Treatment
* 5.1 Conservative
* 5.1.1 Manual therapy
* 5.1.1.1 Kaltenborn mobilization technique
* 5.1.1.2 Neural mobilization technique
* 5.2 Surgery
* 5.2.1 Types of trapeziectomy
* 5.2.1.1 Trapeziectomy
* 5.2.1.2 Trapeziectomy with TI
* 5.2.1.3 Trapeziectomy with LR
* 5.2.1.4 Trapeziectomy with LRTI
* 5.2.2 Arthrodesis
* 5.2.3 Joint Replacement
* 5.2.4 Metacarpal osteotomy
* 5.2.5 Complications
* 6 Epidemiology
* 7 References
* 8 External links
## Signs and symptoms[edit]
The primary and most common symptom in patients with CMC OA of the thumb is pain.[5] Pain at the base of the thumb is mainly experienced when moving the thumb or when applying pressure with the thumb. However, in advanced stages of CMC OA, pain might persist at rest. Another prominent symptom is loss of strength of the thumb.[5] Patients struggle to grab or hold an object due to weakening of the thumb. For example, tying a knot or holding a saucepan becomes increasingly difficult.
If patients present themselves with similar symptoms, physicians should also consider De Quervain syndrome, rheumatoid arthritis or flexor carpi radialis and flexor pollicis longus tendinopathy as a possible cause.[7]
Typical signs of CMC OA can be observed from the outside of the hand.[5] For example, the area near the base of the thumb can be swollen and could appear inflamed. Advanced stages of CMC OA can eventually lead to deformity of the thumb. This deformity, also called a ‘zigzag’ deformity, is characterized by a deviation of the thenar eminence towards the middle of the hand, whilst the thumb phalanges overextend.[8] Also a grinding sound, known as crepitus, can be heard when the CMC1 joint is moved.[6]
## Causes[edit]
CMC OA of the thumb is a degenerative joint disease.[1] Although the exact cause remains unclear, there is a general consensus among researchers about some of the mechanisms leading to CMC OA of the thumb.[9]
It is believed that laxity of the ligaments surrounding the CMC1 joint is the main cause of CMC OA.[10] Especially laxity of the most significant ligament, the palmar beak ligament, will lead to joint instability.[10] This instability causes misalignment of the joint bones, which will then rub against each other. As a consequence, the cushioning cartilage, which covers the surfaces of the joint bones, wears down.[1] The synovial membranes get irritated and synovitis occurs. Eventually, the bare surfaces of the joint bones are exposed to each other. The gap between the joint bones decreases, as there is hardly any cartilage left.
In reaction of this process the joint bones thicken at the surface, resulting in subchondral sclerosis. Also bony outgrowths, called osteophytes, are formed at the joint margins.[11]
In advanced stages of CMC OA, misalignment of the joint bones causes the tendons attached to thumb to force the base of the thumb into radial deviation and extension and the thumb phalanges in hyperextension. As a consequence the ‘zigzag’ deformity becomes visible.[8]
The large forces, which the CMC1 joint has to withstand, are considered to be another cause of CMC OA.[12] During daily manual activities, such as grabbing and pinching, the thumb is constantly being used. The forces generated by these movements have an enlarged impact on the CMC1 joint because of the leverage within the thumb. This makes the joint even more sensitive to wear and tear.[12]
Showing the normal forces of the thumb
### Risk factors[edit]
Several risk factors of CMC OA of the thumb are known. Each of these risk factors does not cause CMC OA by itself, but acts as a predisposing factor influencing the process of OA in some way. Risk factors include: female gender,[2] suffering from obesity,[13] repetitive heavy manual labor,[14] familial predisposition and hormonal changes, such as menopause.[15]
## Anatomy[edit]
The CMC1 joint is a synovial joint between the trapezium bone of the wrist and the metacarpal bone at the base of the thumb. This joint is a so-called saddle joint (articulatio sellaris), unlike the CMC joints of the other four fingers which are ellipsoid joints.[16] This means that the surfaces of the CMC1 joint are both concave and convex.
Because of its specific shape, the CMC1 joint allows a wide range of motion of the thumb. Movements possible in this CMC1 joint are:[17]
* Flexion
* Extension
* Abduction
* Adduction
* Opposition
* Reposition
* Circumduction
This high mobility is due to the little intrinsic osseous stability of the joint. This causes the CMC1 joint to be more unstable compared to the CMC joints of the other fingers.[18] Because of this instability, the joint is more susceptible to be damaged.[12] To remain stable the CMC1 joint has to rely on the surrounding ligaments for support. These ligaments provide the ability to subject high pressure loads, particularly during pinch and grasp manoeuvres.[19]
16 ligaments surrounding the CMC1 joint are identified, which give strength and stability to the joint. Of these ligaments, the deep anterior oblique ligament, also known as the palmar beak ligament, is considered to be the most important stabilizing ligament.[20]
Showing the bones of the hand
## Diagnosis[edit]
CMC OA is diagnosed based on clinical findings and radiologic imaging.[5]
### Classification[edit]
CMC OA can be divided into different stages which show the progression of the disease. The most commonly used classification is the radiological staging protocol according to Eaton and Littler. Four different stages are distinguished on radiological evidence of synovitis, joint space and capsular laxity.[15][21]
Stage 1:
* "synovitis phase"
* slight widening of the joint space
* articular contours are normal
* < 1/3 subluxation of the joint (in any projection)
Stage 2:
* There is a significant capsular laxity
* 1/3 subluxation of the joint
* Osteophytes, < 2 mm in diameter, are present. (usually adjacent to the volar or dorsal facets of the trapezium)
Stage 3:
* > 1/3 subluxation of the joint
* Osteophytes, > 2 mm in diameter, are present (usually adjacent to the volar and dorsal facets of the trapezium)
* Slight joint space narrowing
Stage 4 trapeziometacarpal osteoarthritis, with major subluxation of the joint.
Stage 4:
* Major subluxation of the joint.
* Very narrow joint space
* Cystic and sclerotic subchondral bone changes are present
* Significant erosion of the scaphotrapezial joint.
## Treatment[edit]
### Conservative[edit]
There is moderate quality evidence that manual therapy and therapeutic exercise improves pain in patients with thumb CMC OA at both short- and intermediate-term follow-up, and low to moderate quality evidence that magneto therapy improves pain and function at short-term follow-up. There is moderate evidence that orthoses (splints) can improve hand function at long-term follow-up. There is very low to low-quality evidence that other conservative interventions provide no significant improvement in pain and in function at short- and long-term follow-up. Some of the commonly performed conservative interventions performed in therapy have evidence to support their use to improve hand function and decrease hand pain in patients with CMC OA. [22] Patients with CMC OA of the thumb should initially be treated conservatively.[clarification needed] Conservative treatment is equal to any non-surgical treatment and includes splinting, manual therapy, therapeutic exercises, magneto therapy, laser, NSAID medication and injections with corticosteroids.[23]
#### Manual therapy[edit]
Manual therapy is another commonly used treatment modality in which the joints or muscles of patients are manipulated with the intention of restoring the range of motion of the joint or increasing the flexibility of the muscles around the joint. Intervention techniques:
* Kaltenborn Mobilization Technique[24]
* Maitland's Mobilization[25]
* Neurodynamic Techniques[26][27][28]
##### Kaltenborn mobilization technique[edit]
The specific Kaltenborn mobilization of posterior-anterior gliding with distraction in grade 3 of the CMC joint; the Convex/Concave Rule was applied in each case. In brief, Kaltenborn described these mechanics in terms of the convex-concave rule; the direction of decreased joint gliding in a hypomobile joint and, thus, the appropriate treatment can be deduced by this rule. With movement of a concave joint partner, the glide occurs in the same direction. The form of the joint surface has been considered to induce its gliding/sliding movement; a female (concave) joint surface glides in the same direction as the bone movement, whereas a male (convex) surface glides in the opposite direction of the bone movement. Traction is the technique that distracts 1 articular surface perpendicular to the other, and the glide technique describes the translational gliding of 1 articular surface parallel to the other. Traction in grade 3 has been defined as an additional force, which is applied in the parallel axis. This results in surrounding soft tissues and joint stretching, separating the joint surfaces.[24][29]
##### Neural mobilization technique[edit]
Nerve mobilization aims to glide a nerve by alternating moving at least two joints to increase in nerve strain due to nerve bed elongation at one joint (e.g., wrist extension) is simultaneously counterbalanced by a decrease in nerve bed length at an adjacent joint (e.g., elbow flexion).[30] The nerve mobilization technique for the median nerve consists of alternating the combination of elbow extension (which increases tension on the median nerve) and wrist flexion (which decreases tension on the median nerve) movement with the combination of elbow flexion (decreasing tension) and wrist extension (increasing tension) movement.[30] The radial nerve mobilization involves alternating the following 2 movements: shoulder depression applied simultaneously with elbow flexion and wrist flexion and ulnar deviation wrist extension; and shoulder elevation simultaneously with elbow extension, wrist extension. These movements can be alternated at a rate of approximately 2 seconds per cycle (1 second into extension and 1 second into flexion). Speed and amplitude of movement is adjusted to ensure that no pain was produced. At each session, the technique can be applied 3 times for 3 min separated by 1-min rest periods.[28]
### Surgery[edit]
If conservative treatment does not reduce the complaints of patients, surgical treatment is indicated.[8] This might be the case when pain persists or when functional disability remains present after conservative treatment.
There are several surgical options to treat CMC OA of the thumb.[31] The aim of the treatment is not to cure the disease but to minimize the complaints and symptoms of patients.
Because many different expert opinions about the surgical treatment exist, there are many varieties of surgery, even within one type of surgery. However, there are four types of surgical techniques that are most commonly used.[31] These techniques can be categorized as follows:
* Trapeziectomy
* Arthrodesis
* Joint replacement
* Metacarpal osteotomy
Throughout the years many clinical trials have been carried out, investigating which surgical technique is superior. The levels of evidence of these studies vary from case reports up to randomized controlled trials and systematic reviews. Most studies focused on levels of pain, strength of the thumb, thumb mobility, satisfaction and complications.
No significant evidence has been found to claim that one of the four treatments is superior to one of the others in both short- and long-term effect.[31] Further investigation is needed, but until new evidence is found, investigators advice to carry out the most simple treatment with the least amount of complications. This means that the trapeziectomy is the most recommended surgical procedure for now.[31]
Showing the forces after trapeziectomy
#### Types of trapeziectomy[edit]
The principle of this procedure is the removal of the trapezium bone. It was originally described by Gervis in 1949 [24]. Because half of the carpometacarpal joint is removed, the complaints of patients caused by OA are usually gone.
Four main varieties within this procedure are performed:[32]
* Trapeziectomy
* Trapeziectomy with tendon interposition (TI)
* Trapeziectomy with ligament reconstruction (LR)
* Trapeziectomy with a combination of ligament reconstruction and tendon interposition (LRTI)
Claims have been made that one of these procedures is superior to the others, but there is no scientific evidence to support these statements.[33]
When pain, grip strength and key and tip pinch strengths were examined, investigators could not find a significant difference between the different procedures.[33]
Investigators suggest that the trapeziectomy without any interposition or reconstruction is preferred. It is a simpler procedure then the trapeziectomy with TI or LR and it tends to have fewer complications than the trapeziectomy with LRTI.[31][33]
Trapeziectomy is considered a good surgical option to treat stage II to IV of CMC OA of the thumb.[33]
##### Trapeziectomy[edit]
The most simple form out of the four variations is the trapeziectomy alone, also referred as the simple trapeziectomy.[32] During this procedure, the trapezium bone is removed without any further surgical adjustments.
The trapezium bone will be removed through an approximately three centimeter long incision along the lateral side of the thumb. To preserve surrounding structures, the trapezium bone will be removed through fragmentation of the bone (the bone will therefore be broken into pieces).
An empty gap is left by the trapeziectomy and the wound is closed with sutures. Despite this gap, no significant changes in function of the thumb are reported.[31] After the surgery, the thumb will be immobilized with a cast.
##### Trapeziectomy with TI[edit]
Some physicians still believe that it is better to fill the gap left by the trapeziectomy. They assume that filling the gap with a part of a tendon is preferable in terms of function, stability and position of the thumb. They are afraid that leaving a gap might result in complications such as shortening or subluxation of the thumb.
During trapeziectomy with TI, a tendon interposition is performed.[34] A longitudinal strip of the palmaris longus tendon is separated. If this tendon is absent (which is the case in 13% of the population), half of the flexor carpi radialis tendon (FCR) can be used.
The tendon is then formed into a circular shape and placed in the gap, where it will be stabilized by sutures.[8]
##### Trapeziectomy with LR[edit]
Another technique used to assumable restore stability of the thumb, is a ligament reconstruction after a trapeziectomy is performed. The thought is that ligament reconstruction provides more stability to the thumb after removal of the trapezium bone.[35]
During this procedure the anterior oblique ligament is reconstructed using the FCR tendon. There is a wide variety in techniques to perform this LR, but they all have a similar goal.
Arthrodesis of the thumb
##### Trapeziectomy with LRTI[edit]
Some physicians suppose that combining LR with TI results in an even better stabilised thumb.
Like the name already suggests, this procedure includes a combination of a trapeziectomy with a LR as well as a TI.[36]
#### Arthrodesis[edit]
Arthrodesis of the CMC1 joint is a surgical procedure in which the trapezium bone and the metacarpal bone of the thumb are secured together. Because the joint is fixed, and therefore can not be moved, the complaints of the patient are mainly gone.
During the surgery the two bones will be fixated using K-wires. The use of plates and screws has also been described. The thumb will be positioned in a way it can still perform a pinch grip. Because of the fixation, the two bones will fuse together. This will occur usually within four to six weeks.
However, this technique has some disadvantages.[31] The palm of the hand is unable to be flattened, making it difficult to wear gloves or put your hand in a pocket. Because the stress on the CMC1 joint is now divided over the other joints, those joints are more likely to be damaged.[37]
Nevertheless, this procedure can be used in patients with stage II and III CMC OA as well as in young people with posttraumatic OA.[31]
#### Joint Replacement[edit]
There are several prostheses available for use although they have not been widely successful. The goal is to create a stable artificial joint by replacing the old affected joint with new material. Newer prostheses tend to have better results than older ones.[31] Prostheses come in many varieties, such as spacers or resurfacing prostheses.
The total CMC1 joint replacement is a newer arthroplasty which has developed into a cemented and a non-cemented design. The cement acts as a binding factor for fixation of the prosthesis to the host bone. The non-cemented procedure is a good option to treat stage II and III OA and could be better on short-term than the trapeziectomy with LRTI. However, on the longer term, literature indicates the contrary.[31]
Overall, joint replacements are related to long-term complications such as subluxation, fractures, synovitis (due to the material used) and nerve damaging.[38] In many cases revision surgery is needed to either remove or repair the prosthesis. Also note that usage of a joint replacement is heavy in costs.
The quality of the prostheses is improving and there is reason to believe this will have a positive effect on outcome in the years to follow.[31]
Osteotomy of the thumb
#### Metacarpal osteotomy[edit]
The aim of this procedure is to change the pressure distribution on the CMC1 joint, so it can function without further damaging the joint. That is why a successful osteotomy requires a CMC1 joint of reasonable condition. Therefore, the metacarpal osteotomy should be limited to patients with a stage I-II CMC OA.[39]
An osteotomy is a surgical procedure wherein bone fragments are modified by cutting the bone.
During this procedure an abduction osteotomy of the proximal end of the first metacarpal bone is performed. An incision is made over the radial border of the first metacarpal bone. A wedged shape bone fragment is removed, causing the distal part of the metacarpal bone to tilt towards its desired position.[40] Postoperative, the thumb of the patient is immobilized using a thumb-cast.
Possible complications are non-union of the bone, persistent pain related to unrecognized CMC or pantrapezial disease and radial sensory nerve injury.[39]
#### Complications[edit]
The most common complication after surgery is pain persisting in the thumb. Over long term, there is pain relief, but on short term, patients experience pain from the surgery itself. The main complaint is a burning sensation or hypersensitivity over the incision. Some patients develop a complex regional pain syndrome. This is a syndrome of chronic pain with changes of temperature and colour of the skin.
Other general complications include radial nerve damage and postoperative wound infection.
After arthrodesis, non-union, in which fusion of the trapezium bone with the metacarpal bone fails, occurs in 8% to 21% of the cases.[31]
Subluxation of a prosthesis is a complication where the prosthesis is mobile and is partially dislocated. When the prosthesis is fully dislocated it is called a luxation. Both are painful and need revision surgery so the prosthesis can be repaired or removed.[41] When using a prosthesis over a longer period of time, there is a chance of breaking the prosthesis itself. This is due to mechanical wear.
Prostheses might also cause a reaction of the body against the artificial material they are made of, resulting in local inflammation.
## Epidemiology[edit]
CMC OA is the most common form of OA affecting the hand.[2] Dahaghin et al. showed that about 15% of women and 7% of men between 50 and 60 years of age suffer from CMC OA of the thumb.[42] However, in about 65% of people older than 55 years, radiologic evidence of OA was present without any symptoms.[42] Armstrong et al. reported a prevalence of 33% in postmenopausal women, of which one third was symptomatic, compared to 11% in men older than 55 years.[2] This shows CMC OA of the thumb is significantly more prevalent in women, especially in postmenopausal women, compared to men.
## References[edit]
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*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Trapeziometacarpal osteoarthritis
|
None
| 28,084 |
wikipedia
|
https://en.wikipedia.org/wiki/Trapeziometacarpal_osteoarthritis
| 2021-01-18T18:28:40 |
{"icd-9": ["715"], "icd-10": ["M18"], "wikidata": ["Q2148152"]}
|
Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome
Other namesCEDNIK syndrome[1]
SpecialtyDermatology
Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome is a neurocutaneous condition caused by mutation in the SNAP29 gene.[2]
## Contents
* 1 Presentation
* 2 Pathophysiology
* 3 Diagnosis
* 4 See also
* 5 References
* 6 External links
## Presentation[edit]
CEDNIK syndrome is a rare congenital condition that presents as severe developmental failure of the nervous system and the epidermis. Clinical manifestations include microcephaly, cerebral dysgenesis, facial dysmorphism, palmoplantar keratoderma, and ichthyosis.[3]
These children usually have a normal intrauterine life and normal birth. The first symptoms to appear are abnormal eye movements, poor head and trunk control and failure to thrive. The facial dysmorphism is characteristic with elongated faces, antimongolian eye slant, slight hypertelorism and flat broad nasal root. Palmoplantar keratoderma and ichthyosis appeares between 5 and 11 months of age. Soon features of psychomotor retardation as seen as a delay in major developmental milestones, becomes evident. Severe peripheral neuropathy is common in these children. Early macular degeneration is yet another clinical feature.[4] Death is common by 5–10 years and is usually as a result of infection or aspiration pneumonia.[citation needed]
## Pathophysiology[edit]
This condition is associated with a loss-of-function mutation in SNAP29 gene, encoding a member of the SNARE family of proteins which is involved in intracellular vesicle fusion. Decrease in SNAP29 expression was found to result in abnormal lamellar granule maturation and secretion.[5] Lamellar granules are organelles found in the upper epidermal layers of skin and is responsible for secretion of lipids, proteases and their inhibitors to stratum corneum during the formation of epidermal barrier. Due to the abnormal vesicle trafficking as a consequence of decreased SNAP29 there is abnormal deposition of epidermal lipids and proteases.[4]
The abnormal gene of CEDNIK disease was mapped on chromosome 22 by Sprecher E et al.[4]
## Diagnosis[edit]
Tendon reflexes are usually absent. Nerve conduction studies usually show decreased amplitude indicating decrease in the number of active neurons. Muscle biopsies show atrophy.[citation needed]
Ophthalmologic evaluation show hypoplastic optic disk and electrophysiological studies were suggestive of decreased conductance in retina and features of macular atrophy.[citation needed]
Mild sensorineural hearing lossis present.[citation needed]
Magnetic resonance imaging of the brain shows abnormalities of the corpus callosum and cortical dysplasia, with pachygyria and polymicrogyria.[citation needed]
## See also[edit]
* Arthrogryposis–renal dysfunction–cholestasis syndrome
* List of cutaneous conditions
* Chediak Higashi syndrome
* Griscelli syndrome
* Hermansky-Pudlak syndrome
* Sjogren Larsson syndrome
## References[edit]
1. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: CEDNIK syndrome". www.orpha.net. Retrieved 18 May 2019.
2. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
3. ^ "Kegg Disease: CEDNIK syndrome". www.genome.jp. Retrieved 2019-11-22.
4. ^ a b c Sprecher, Eli; Ishida-Yamamoto, Akemi; Mizrahi-Koren, Mordechai; Rapaport, Debora; Goldsher, Dorit; Indelman, Margarita; Topaz, Orit; Chefetz, Ilana; Keren, Hanni; O’Brien, Timothy J.; Bercovich, Dani (August 2005). "A Mutation in SNAP29, Coding for a SNARE Protein Involved in Intracellular Trafficking, Causes a Novel Neurocutaneous Syndrome Characterized by Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma". American Journal of Human Genetics. 77 (2): 242–251. doi:10.1086/432556. ISSN 0002-9297. PMC 1224527. PMID 15968592.
5. ^ Fuchs-Telem, D.; Stewart, H.; Rapaport, D.; Nousbeck, J.; Gat, A.; Gini, M.; Lugassy, Y.; Emmert, S.; Eckl, K.; Hennies, H. C.; Sarig, O. (March 2011). "CEDNIK syndrome results from loss-of-function mutations in SNAP29". The British Journal of Dermatology. 164 (3): 610–616. doi:10.1111/j.1365-2133.2010.10133.x. ISSN 1365-2133. PMID 21073448. S2CID 8121441.
## External links[edit]
Classification
D
* ICD-10: Q82.8
* OMIM: 609528
* MeSH: C537943 C537943, C537943
External resources
* Orphanet: 66631
* v
* t
* e
Inherited disorders of trafficking / vesicular transport proteins
Vesicle formation
Lysosome/Melanosome:
* HPS1–HPS7
* Hermansky–Pudlak syndrome
* LYST
* Chédiak–Higashi syndrome
COPII:
* SEC23A
* Cranio-lenticulo-sutural dysplasia
* COG7
* CDOG IIE
APC:
* AP1S2
* X-linked intellectual disability
* AP3B1
* Hermansky–Pudlak syndrome 2
* AP4M1
* CPSQ3
Rab
* ARL6
* BBS3
* RAB27A
* Griscelli syndrome 2
* CHM
* Choroideremia
* MLPH
* Griscelli syndrome 3
Cytoskeleton
Myosin:
* MYO5A
* Griscelli syndrome 1
Microtubule:
* SPG4
* Hereditary spastic paraplegia 4
Kinesin:
* KIF5A
* Hereditary spastic paraplegia 10
Spectrin:
* SPTBN2
* Spinocerebellar ataxia 5
Vesicle fusion
Synaptic vesicle:
* SNAP29
* CEDNIK syndrome
* STX11
* Hemophagocytic lymphohistiocytosis 4
Caveolae:
* CAV1
* Congenital generalized lipodystrophy 3
* CAV3
* Limb-girdle muscular dystrophy 2B, Long QT syndrome 9
Vacuolar protein sorting:
* VPS33B
* ARC syndrome
* VPS13B
* Cohen syndrome
* DYSF
* Distal muscular dystrophy
See also vesicular transport proteins
This dermatology article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome
|
c1836033
| 28,085 |
wikipedia
|
https://en.wikipedia.org/wiki/Cerebral_dysgenesis%E2%80%93neuropathy%E2%80%93ichthyosis%E2%80%93keratoderma_syndrome
| 2021-01-18T18:41:59 |
{"gard": ["9940"], "mesh": ["C537943"], "umls": ["C1836033"], "orphanet": ["66631"], "wikidata": ["Q5064098"]}
|
A number sign (#) is used with this entry because immunodeficiency-31C (IMD31C) is caused by heterozygous mutation in the STAT1 gene (600555) on chromosome 2q32.
Immunodeficiency-31A (IMD31A; 614892), an autosomal dominant disorder, and immunodeficiency-31B (IMD31B; 613796), an autosomal recessive disorder, are allelic.
Description
IMD31C is disorder of immunologic dysregulation with highly variable manifestations resulting from autosomal dominant gain-of-function mutations in STAT1 (600555). Most patients present in infancy or early childhood with chronic mucocutaneous candidiasis (CMC). Other highly variable features include recurrent bacterial, viral, fungal, and mycoplasmal infections, disseminated dimorphic fungal infections, enteropathy with villous atrophy, and autoimmune disorders, such as hypothyroidism or diabetes mellitus. A subset of patients show apparently nonimmunologic features, including osteopenia, delayed puberty, and intracranial aneurysms. Laboratory studies show increased activation of gamma-interferon (IFNG; 147570)-mediated inflammation. (summary by Uzel et al., 2013 and Sampaio et al., 2013).
Clinical Features
Van de Veerdonk et al. (2011) evaluated 14 patients from 2 Dutch and 3 British families with autosomal dominant chronic mucocutaneous candidiasis. Mononuclear cells from the affected patients were characterized by poor production of IFNG (147570), IL17 (IL17A; 603149), and IL22 (605330). In addition to candidiasis, the 67-year-old father of one of the Dutch families had autoimmune hepatitis, and his 38-year-old daughter had autoimmune hemolytic anemia and anti-phospholipid antibodies; his 37-year-old son had candidiasis but no autoimmune phenomena. The father and daughter also suffered from chest infections, and the daughter had pulmonary embolism and Pneumocystis jirovecii pneumonia with symptomatic cytomegalovirus infection. None of the other families exhibited autoimmune disease, but members of 2 of the British families also suffered from chest infections. One member of the second Dutch family, as well as her deceased mother, and members of 2 British families had esophageal or oral carcinoma. Members of all 3 British families also had hypothyroidism.
Uzel et al. (2013) reported 5 unrelated children with IMD31C. Three patients presented with mucocutaneous candidiasis between 3 and 8 months of age. Another 4-year-old patient presented in infancy with recurrent infections and dermatitis and was later found to have enteropathy; this patient did not develop candidal infection. The last patient, who presented in early childhood with hypothyroidism and growth delay, was later found to have enteropathy with villous atrophy, and had 1 episode of mild candidiasis. Three patients developed insulin-dependent diabetes mellitus later in childhood. Other variable autoimmune disorders included hypothyroidism, hemolytic anemia, thrombocytopenia purpura, and autoimmune enteropathy. These features were reminiscent of the complex immune disorder known as X-linked immunodysregulation, polyendocrinopathy, and enteropathy (IPEX; 304790), but none of the patients had mutations in the FOXP3 gene (300292). The patients had evidence of immunodeficiency, with recurrent bacterial, viral (RSV, HSV, VSV), and mycobacterial infections and a progressive decrease in T- and B-cell numbers and immunoglobulin levels, although these laboratory features were variable. Two patients showed early developmental delay. Additional features included eczema, poor growth with delayed secondary sexual characteristics, and poor bone growth; 2 patients had intracranial aneurysms. Two patients died in childhood. Immunologic workup showed decreased CD4+ (186940) IL17-producing T cells, but regulatory CD4+ T cells were normal. The first 3 patients were identified from a cohort of 5 patients with chronic mucocutaneous candidiasis and additional features who underwent STAT1 sequencing, and the 2 remaining patients were identified from a cohort of 35 patients with an IPEX-like phenotype who underwent STAT1 sequencing.
Sampaio et al. (2013) reported 5 unrelated patients with severe disseminated dimorphic fungal infections due to IMD31C. A Hispanic girl from Arizona presented at age 15 years with extensive Trichophyton tonsurans infection and later developed disseminated coccidioidomycosis. Another girl from Arizona, who was Caucasian, presented at age 9.5 years with disseminated coccidioidomycosis that eventually involved the central nervous system, resulting in death at age 17. Three additional patients had disseminated histoplasmosis beginning at 12, 17, and 7 years of age, respectively. One patient had a lifetime history of bone fractures and recurrent infections, including candidal thrush in early infancy; another had oral candidiasis, progressive multifocal leukoencephalopathy caused by the JC virus, and Pseudomonas sepsis resulting in death at age 31 years.
Molecular Genetics
In 2 Dutch and 3 British families with autosomal dominant chronic mucocutaneous candidiasis, van de Veerdonk et al. (2011) identified 2 heterozygous mutations in exon 10 of the STAT1 gene. Both mutations, arg274 to trp (R274W; 600555.0008) and ala267 to val (A267V; 600555.0009), occurred in the coiled-coil domain of STAT1 and resulted in defective responses in Th1 and Th17 cells, characterized by poor production of IFNG, IL17, and IL22 (605330).
Liu et al. (2011) identified 12 missense mutations in exons 6 through 10 of the STAT1 gene in 36 patients from 20 kindreds with autosomal dominant chronic mucocutaneous candidiasis. All 12 mutations affected a cluster of residues in a specific pocket of the STAT1 coiled-coil domain, near residues essential for dephosphorylation. Extensive functional characterization revealed that at least 11 of the 12 candidiasis-associated STAT1 mutations were gain of function, with enhanced induction of GAS binding in response to IFNG, IFNA (147660), or IL27 (608273). Studies with the arg274-to-gln (R274Q; 600555.0010) and asp165-to-gly (D165G; 600555.0014) mutations showed that the gain-of-function mechanism involved increased phosphorylation of tyr701 of STAT1 due to impaired nuclear dephosphorylation. Patients with STAT1 gain-of-function mutations had lower proportions of circulating IL17A- and IL22-producing T cells and lower secretion of IL17A, IL17F (606496), and IL22 compared with healthy controls and patients with STAT1 loss-of-function alleles, such as leu706 to ser (L706S; 600555.0001). Liu et al. (2011) concluded that patients with familial or sporadic autosomal dominant chronic mucocutaneous candidiasis and mutations affecting the coiled-coil domain of STAT1 produce lower amounts of IL17, which renders them susceptible to extracellular fungal disease.
By cloning and transfection experiments, Smeekens et al. (2011) found that the R274Q mutation underlying chronic mucocutaneous candidiasis inhibited IL12R (see 601604)/IL23R (607562) signaling, likely due to STAT1 hyperphosphorylation. Inhibition of IL12R/IL23R signaling led to diminished Th1/Th17 responses and increased susceptibility to fungal infections.
Soltesz et al. (2013) described the genetic, immunologic, and clinical findings in 9 patients with chronic mucocutaneous candidiasis from the Czech Republic, Hungary, Russia, and Ukraine who ranged in age from 9 to 48 years. Using whole-exome sequencing, they identified heterozygous missense mutations in the STAT1 gene in all 9 patients, including 2 novel mutations affecting the coiled-coil domain, asn179 to lys (N179K; 600555.0020) and gln285 to arg (Q285R; 600555.0021), and a mutation affecting the DNA-binding domain, thr385 to met (T385M; 600555.0022). The N179K and Q285R mutations resulted in STAT1 gain of function for GAF-dependent responses. The T385M mutation in the DNA-binding domain, as well as the frequent R274W mutation in the coiled-coil domain, led to increased STAT1 phosphorylation due to loss of dephosphorylation.
In 5 unrelated children with IMD31C, Uzel et al. (2013) identified 4 different heterozygous missense mutations in the STAT1 gene (see, e.g., T385M, 600555.0022). In vitro functional expression studies showed that all the mutations resulted in increased STAT1 phosphorylation, activation, and increased DNA binding in response to IFNG stimulation, consistent with a gain of function. Transfected cells also showed decreased STAT1 dephosphorylation compared to wildtype, indicating prolonged activation. Flow cytometric analysis of patient lymphocytes confirmed increased IFNG-induced STAT1 hyperphosphorylation.
In 5 unrelated patients with disseminated infection with dimorphic fungi, including coccidioidomycosis and histoplasmosis, Sampaio et al. (2013) identified 4 different heterozygous missense mutations in the STAT1 gene (see, e.g., A267V, 600555.0009; T385M, 600555.0022; and R274G, 600555.0025). Four of the mutations were demonstrated to occur de novo; parental samples from the fifth patient were not available. In vitro functional expression studies indicated that the mutations resulted in enhanced IFNG-induced STAT1 phosphorylation and increased DNA binding in B cells compared to wildtype, consistent with a gain of function. However, the initial hyperresponsiveness to IFNG was impaired upon restimulation, suggesting that the IFNG tachyphylaxis may be central to the immunologic defect in this disorder. Knockdown of PIAS1 (603566) resulted in near normalization of STAT1 gene expression after restimulation, and treatment of transfected cells or patient cells with a methyl donor resulted in enhanced methyl-associated STAT1, decreased STAT1/PIAS1 interaction, and decreased IFNG-induced STAT1 phosphorylation, suggesting a potential therapeutic use.
Yamazaki et al. (2014) identified 2 novel gain-of-function STAT1 mutations, lys278 to glu (K278E; 600555.0026) in the coiled-coil domain and gly384 to asp (G384D; 600555.0027) in the DNA-binding domain, in 3 Japanese patients with chronic mucocutaneous candidiasis disease. Ectopic expression of the STAT1 mutants in HeLa cells was associated with increased phosphorylation of both mutant and wildtype STAT1 due to impaired dephosphorylation, indicating that heterodimers of mutant and wildtype STAT1 or homodimers of mutant STAT1 had reduced dephosphorylation function. Anti-CD3D (186790)/anti-CD28 (186760) or Candida stimulation of peripheral blood mononuclear cells and CD4-positive T cells resulted in significantly reduced production of IL17A and IL22, but not IL17F, in 4 patients with STAT1 gain-of-function mutations, including the 3 patients with K278E or G384D mutations and 1 patient with the R274Q mutation. Only anti-IL17F autoantibody was detected in sera from 11 of 17 patients with STAT1 gain-of-function mutations. Yamazaki et al. (2014) concluded that impaired production of IL17A and IL22, but not IL17F, is associated with development of chronic mucocutaneous candidiasis disease.
INHERITANCE \- Autosomal dominant GROWTH Height \- Short stature (in some patients) Other \- Poor growth (in some patients) HEAD & NECK Mouth \- Candidiasis, recurrent, chronic CARDIOVASCULAR Vascular \- Intracranial aneurysms (in some patients) RESPIRATORY \- Recurrent respiratory infections ABDOMEN Gastrointestinal \- Diarrhea (in some patients) \- Enteropathy (in some patients) \- Villous atrophy (in some patients) SKELETAL \- Osteopenia (in some patients) SKIN, NAILS, & HAIR Skin \- Dermatitis (in some patients) \- Eczema (in some patients) Nails \- Candidiasis ENDOCRINE FEATURES \- Hypothyroidism (in some patients) \- Diabetes mellitus (in some patients) \- Delayed puberty (in some patients) HEMATOLOGY \- Autoimmune hemolytic anemia (in some patients) \- Thrombocytopenia purpura (in some patients) IMMUNOLOGY \- Immunodeficiency \- Immune dysregulation \- Recurrent infections, bacterial, viral, fungal, mycobacterial \- Disseminated infection with dimorphic fungi (Coccidioides and Histoplasma) \- Autoimmune disorders (in some patients) \- Lymphopenia, progressive \- Decreased memory B cells, progressive \- Decreased immunoglobulins, progressive LABORATORY ABNORMALITIES \- Aberrant gamma-interferon-mediated inflammation MISCELLANEOUS \- Onset in infancy or early childhood \- Highly variable phenotype MOLECULAR BASIS \- Caused by mutation in the signal transducer and activator of transcription 1 gene (STAT1, 600555.0008 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
IMMUNODEFICIENCY 31C
|
c3279990
| 28,086 |
omim
|
https://www.omim.org/entry/614162
| 2019-09-22T15:56:18 |
{"doid": ["2058"], "omim": ["614162"], "orphanet": ["391487"], "synonyms": ["Alternative titles", "CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL DOMINANT", "CANDIDIASIS, FAMILIAL, 7"]}
|
Chromosome 8q24.3 deletion syndrome is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on chromosome 8 at a location designated q24.3. The signs and symptoms vary but may include slow growth, developmental delay, characteristic facial features, and skeletal abnormalities. Some affected people may also have coloboma, kidney abnormalities, and heart defects. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Chromosome 8q24.3 deletion syndrome
|
c3810023
| 28,087 |
gard
|
https://rarediseases.info.nih.gov/diseases/12814/chromosome-8q243-deletion-syndrome
| 2021-01-18T18:01:19 |
{"omim": ["615583"], "synonyms": ["Verheij syndrome"]}
|
Aspartylglycosaminuria is a very rare lysosomal storage disease that causes a progressive decline in mental functioning. Infants with aspartylglycosaminuria appear healthy at birth with signs and symptoms beginning around the age of 2 or 3. Major symptoms may include coarse facial features, spine and eye deformities, behavior problems, and intellectual disability. Symptoms result from a deficiency in an enzyme called aspartylglycosaminidase, which leads to an accumulation of a protein called glycoasparagine in the body tissues and increased excretion of this protein in the urine. Aspartylglycosaminuria is inherited in an autosomal recessive fashion and caused by mutations in the AGA gene. It is commonly seen in individuals of Finnish decent.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Aspartylglycosaminuria
|
c0268225
| 28,088 |
gard
|
https://rarediseases.info.nih.gov/diseases/5854/aspartylglycosaminuria
| 2021-01-18T18:02:02 |
{"mesh": ["D054880"], "omim": ["208400"], "orphanet": ["93"], "synonyms": ["Aspartylglucosaminuria", "Aspartylglucosamidase (AGA) deficiency", "AGU", "AGA deficiency", "Glycosylasparaginase deficiency"]}
|
Autosomal recessive hypotrichosis is a condition that affects hair growth. People with this condition have sparse hair (hypotrichosis) on the scalp beginning in infancy. This hair is usually coarse, dry, and tightly curled (often described as woolly hair). Scalp hair may also be lighter in color than expected and is fragile and easily broken. Affected individuals often cannot grow hair longer than a few inches. The eyebrows, eyelashes, and other body hair may be sparse as well. Over time, the hair problems can remain stable or progress to complete scalp hair loss (alopecia) and a decrease in body hair.
Rarely, people with autosomal recessive hypotrichosis have skin problems affecting areas with sparse hair, such as redness (erythema), itchiness (pruritus), or missing patches of skin (erosions) on the scalp. In areas of poor hair growth, they may also develop bumps called hyperkeratotic follicular papules that develop around hair follicles, which are specialized structures in the skin where hair growth occurs.
## Frequency
The worldwide prevalence of autosomal recessive hypotrichosis is unknown. In Japan, the condition is estimated to affect 1 in 10,000 individuals.
## Causes
Autosomal recessive hypotrichosis can be caused by mutations in the LIPH, LPAR6, or DSG4 gene. These genes provide instructions for making proteins that are involved in the growth and division (proliferation) and maturation (differentiation) of cells within hair follicles. These cell processes are important for the normal development of hair follicles and for hair growth; as the cells in the hair follicle divide, the hair strand (shaft) is pushed upward and extends beyond the skin, causing the hair to grow. The proteins produced from the LIPH, LPAR6, and DSG4 genes are also found in the outermost layer of skin (the epidermis) and glands in the skin that produce a substance that protects the skin and hair (sebaceous glands).
Mutations in the LIPH, LPAR6, or DSG4 gene result in the production of abnormal proteins that cannot aid in the development of hair follicles. As a result, hair follicles are structurally abnormal and often underdeveloped. Irregular hair follicles alter the structure and growth of hair shafts, leading to woolly, fragile hair that is easily broken. A lack of these proteins in the epidermis likely contributes to the skin problems sometimes seen in affected individuals.
In some areas of the body, other proteins can compensate for the function of the missing protein, so not all areas with hair are affected and not all individuals have skin problems.
### Learn more about the genes associated with Autosomal recessive hypotrichosis
* DSG4
* LIPH
* LPAR6
## Inheritance Pattern
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Autosomal recessive hypotrichosis
|
c1842839
| 28,089 |
medlineplus
|
https://medlineplus.gov/genetics/condition/autosomal-recessive-hypotrichosis/
| 2021-01-27T08:25:22 |
{"mesh": ["C564312"], "omim": ["607903", "604379", "278150"], "synonyms": []}
|
Cleft lip/palate-deafness-sacral lipoma syndrome is characterised by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Cleft lip/palate-deafness-sacral lipoma syndrome
|
None
| 28,090 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2003
| 2021-01-23T17:35:32 |
{"icd-10": ["Q87.8"], "synonyms": ["Cleft lip/palate-hearing loss-sacral lipoma syndrome", "Lowry-Yong syndrome"]}
|
Immune thrombocytopenia is a disorder characterized by a blood abnormality called thrombocytopenia, which is a shortage of blood cells called platelets that are needed for normal blood clotting.
Affected individuals can develop red or purple spots on the skin caused by bleeding just under the skin's surface. Small spots of bleeding under the skin are called purpura and larger spots are called ecchymoses. People with immune thrombocytopenia can have significant bleeding episodes, such as nose bleeds (epistaxis) or bleeding in the moist lining (mucosae) of the mouth. In severe cases, individuals may have gastrointestinal bleeding or blood in the urine or stool, or heavy and prolonged menstrual bleeding (menorrhagia). In very rare instances, bleeding inside the skull (intracranial hemorrhage) can occur, which can be life-threatening. A greater reduction in platelet numbers is often associated with more frequent bleeding episodes and an increased risk of severe bleeding.
While immune thrombocytopenia can be diagnosed at any age, there are two periods when the condition is most likely to develop: early childhood and late adulthood. In children, the reduction in platelets is often sudden, but platelet levels usually return to normal levels within weeks to months. Immune thrombocytopenia in children is often preceded by a minor infection, such as an upper respiratory infection, but the relationship between the infection and immune thrombocytopenia is not clear. In adults, the development of immune thrombocytopenia is usually gradual and the condition tends to persist throughout life.
## Frequency
The incidence of immune thrombocytopenia is approximately 4 per 100,000 children and 3 per 100,000 adults. In adults with immune thrombocytopenia, women are affected more often than men.
It is likely that this condition is underdiagnosed because those with mild signs and symptoms often do not seek medical attention.
## Causes
The genetic cause of immune thrombocytopenia is unclear. This condition occurs when the body's own immune system malfunctions and attacks the body's tissues and organs (autoimmunity). Normally, the immune system produces proteins called antibodies, which attach to specific foreign particles and germs, marking them for destruction. In immune thrombocytopenia, the immune system abnormally destroys platelets and makes fewer platelets than normal. People with immune thrombocytopenia produce antibodies that attack normal platelets. The platelets are destroyed and eliminated from the body, resulting in a shortage of these cells in affected individuals. Some of these antibodies also affect the cells in the bone marrow that produce platelets (known as megakaryocytes), which leads to a decrease in platelet production, further reducing the number of platelets in the blood.
In some people with immune thrombocytopenia, the abnormal immune reactions may coincide with an infection by certain viruses or bacteria. Exposure to these foreign invaders may trigger the body to fight the infection, but the immune system also mistakenly attacks platelets.
Genetic variations (polymorphisms) in a few genes have been found in some people with immune thrombocytopenia and may increase the risk of abnormal immune reactions. However, the contribution of these genetic changes to the development of immune thrombocytopenia is unclear.
When the condition is due to the targeted destruction of platelets by the body's own immune cells, it is known as primary immune thrombocytopenia. Immune thrombocytopenia following bacterial or viral infection is considered primary because the infection triggers a platelet-specific immune reaction, typically without any other signs or symptoms. However, immune thrombocytopenia can be a feature of other immune disorders, such as common variable immune deficiency, which occurs when the immune system has a decreased ability to protect the body against foreign invaders, or other autoimmune disorders such as systemic lupus erythematosus. Immune thrombocytopenia can also occur with other blood disorders, including a form of cancer of the blood-forming tissue known as chronic lymphocytic leukemia, and human immunodeficiency virus (HIV) infection. When immune thrombocytopenia is a feature of other disorders, the condition is known as secondary immune thrombocytopenia.
## Inheritance Pattern
Immune thrombocytopenia and other autoimmune disorders can run in families, but the inheritance pattern is usually unknown. People with a first-degree relative (such as a parent or sibling) with immune thrombocytopenia likely have an increased risk of developing the disorder themselves.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Immune thrombocytopenia
|
c0398650
| 28,091 |
medlineplus
|
https://medlineplus.gov/genetics/condition/immune-thrombocytopenia/
| 2021-01-27T08:25:15 |
{"gard": ["5194"], "mesh": ["D016553"], "omim": ["188030"], "synonyms": []}
|
A number sign (#) is used with this entry because of evidence that seizures, cortical blindness, and microcephaly syndrome (SCBMS) is caused by homozygous mutation in the DIAPH1 gene (602121) on chromosome 5q31.
Description
Seizures, cortical blindness, and microcephaly syndrome (SCBMS) is an autosomal recessive neurodevelopmental disorder characterized by microcephaly, early-onset seizures, severely delayed psychomotor development, and cortical blindness. Affected individuals also tend to show poor overall growth with short stature (summary by Ercan-Sencicek et al., 2015).
Clinical Features
Ercan-Sencicek et al. (2015) reported a consanguineous Saudi Arabian family in which 5 sibs had microcephaly, cortical visual impairment, and early-onset seizures. All had significantly delayed psychomotor development with severe intellectual disability and very poor speech, necessitating full-time care. Other features included short stature and hypoplasia of the corpus callosum.
Al-Maawali et al. (2016) reported 4 patients from 2 unrelated consanguineous Arab families with early-onset seizures, microcephaly, severely delayed psychomotor development, and cortical blindness with optic atrophy. The patients showed poor overall growth with short stature; some had hypotonia.
Inheritance
The transmission pattern of SCBMS in the family reported by Ercan-Sencicek et al. (2015) was consistent with autosomal recessive inheritance.
Mapping
By genomewide linkage analysis of a consanguineous Saudi Arabian family with SCBMS, Ercan-Sencicek et al. (2015) found linkage to a region on chromosome 5q31.3 (maximum lod score of 3.7).
Molecular Genetics
In 5 sibs, born of consanguineous Saudi Arabian parents, with SCBMS, Ercan-Sencicek et al. (2015) identified a homozygous truncating mutation in the DIAPH1 gene (Q778X; 602121.0002). The mutation, which was found by a combination of linkage analysis and whole-exome sequencing, segregated with the disorder in the family.
Al-Maawali et al. (2016) identified 2 different homozygous truncating mutations in the DIAPH1 gene (602121.0003 and 602121.0004) in 4 patients from 2 unrelated consanguineous Arab families with SCBMS.
INHERITANCE \- Autosomal recessive GROWTH Height \- Short stature Other \- Poor growth HEAD & NECK Head \- Microcephaly (up to -10 SD) Eyes \- Cortical blindness \- Optic atrophy MUSCLE, SOFT TISSUES \- Hypotonia (in some patients) NEUROLOGIC Central Nervous System \- Delayed psychomotor development, moderate to severe \- Seizures \- Poor speech \- Hypoplasia of the corpus callosum MISCELLANEOUS \- Onset of seizures in first months of life MOLECULAR BASIS \- Caused by mutation in the diaphanous-related formin 1 gene (DIAPH1, 602121.0002 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME
|
c4225261
| 28,092 |
omim
|
https://www.omim.org/entry/616632
| 2019-09-22T15:48:22 |
{"omim": ["616632"], "orphanet": ["477814"], "synonyms": []}
|
Abortion in the Marshall Islands is only legal if the abortion will save the pregnant woman's life.[1] In the Marshall Islands, even if physicians determine an abortion is life-saving for the woman, she must receive consent from her spouse, undergo counseling, and she must sign a form consenting to use family planning services after the medical procedure.[1]
## References[edit]
1. ^ a b Division, United Nations Dept of Economic and Social Affairs Population (2001-01-01). Abortion Policies: A Global Review. United Nations Publications. ISBN 9789211513615.
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* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Abortion in the Marshall Islands
|
None
| 28,093 |
wikipedia
|
https://en.wikipedia.org/wiki/Abortion_in_the_Marshall_Islands
| 2021-01-18T18:44:35 |
{"wikidata": ["Q30314240"]}
|
Thymoma
An encapsulated thymoma (mixed lymphocytic and epithelial type)
SpecialtyOncology, cardiothoracic surgery
Usual onsetAdulthood
Treatmentsurgical removal, chemotherapy (in malignant cases).
A thymoma is a tumor originating from the epithelial cells of the thymus that may be benign or malignant. Thymomas are frequently associated with the neuromuscular disorder myasthenia gravis;[1] thymoma is found in 20% of patients with myasthenia gravis.[2] Once diagnosed, thymomas may be removed surgically. In the rare case of a malignant tumor, chemotherapy may be used.
## Contents
* 1 Signs and symptoms
* 2 Pathology
* 3 Diagnosis
* 3.1 Staging
* 4 Treatment
* 5 Prognosis
* 6 Epidemiology
* 7 Gallery
* 8 See also
* 9 References
* 10 External links
## Signs and symptoms[edit]
A third of all people with a thymoma have symptoms caused by compression of the surrounding organs by an expansive mass. These problems may take the form of superior vena cava syndrome, dysphagia (difficulty swallowing), cough, or chest pain.[1]
One-third of patients have their tumors discovered because they have an associated autoimmune disorder. As mentioned earlier, the most common of those conditions is myasthenia gravis (MG); 10–15% of patients with MG have a thymoma and, conversely, 30–45% of patients with thymomas have MG. Additional associated autoimmune conditions include thymoma-associated multiorgan autoimmunity, pure red cell aplasia and Good syndrome (thymoma with combined immunodeficiency and hypogammaglobulinemia). Other reported disease associations are with acute pericarditis, agranulocytosis, alopecia areata, ulcerative colitis, Cushing's disease, hemolytic anemia, limbic encephalopathy, myocarditis, nephrotic syndrome, panhypopituitarism, pernicious anemia, polymyositis, rheumatoid arthritis, sarcoidosis, scleroderma, sensorimotor radiculopathy, stiff person syndrome, systemic lupus erythematosus and thyroiditis.[1][3]
One-third to one-half of all persons with thymoma have no symptoms at all, and the mass is identified on a chest X-ray or CT/CAT scan performed for an unrelated problem.[1]
## Pathology[edit]
Thymoma originates from the epithelial cell population in the thymus, and several microscopic subtypes are now recognized.[1] There are three principal histological types of thymoma, depending on the appearance of the cells by microscopy:
* Type A if the epithelial cells have an oval or fusiform shape (less lymphocyte count);
* Type B if they have an epithelioid[clarification needed] shape (Type B has three subtypes: B1 (lymphocyte-rich), B2 (cortical) and B3 (epithelial).);[4]
* Type AB if the tumor contains a combination of both cell types.
Thymic cortical epithelial cells have abundant cytoplasm, vesicular nucleus with finely divided chromatin and small nucleoli and cytoplasmic filaments contact adjacent cells. Thymic medullary epithelial cells in contrast are spindle shaped with oval dense nucleus and scant cytoplasm thymoma if recapitulates cortical cell features more, is thought to be less benign.
## Diagnosis[edit]
CT scan of the chest revealing a large necrotic mass in the left anterior mediastinum (indicated by the red line). Histology later established the diagnosis of a thymoma.
Another axial slice of a CT scan of the chest showing a small thymoma anterior to the heart (marked with the red line).
When a thymoma is suspected, a CT/CAT scan is generally performed to estimate the size and extent of the tumor, and the lesion is sampled with a CT-guided needle biopsy. Increased vascular enhancement on CT scans can be indicative of malignancy, as can be pleural deposits.[1] Limited[clarification needed] biopsies are associated with a very small risk of pneumomediastinum or mediastinitis and an even-lower risk of damaging the heart or large blood vessels. Sometimes thymoma metastasize for instance to the abdomen.[5]
The diagnosis is made via histologic examination by a pathologist, after obtaining a tissue sample of the mass. Final tumor classification and staging is accomplished pathologically after formal[clarification needed] surgical removal of the thymic tumor.
Selected laboratory tests can be used to look for associated problems or possible tumor spread. These include: full blood count, protein electrophoresis, antibodies to the acetylcholine receptor (indicative of myasthenia), electrolytes, liver enzymes and renal function.[1]
### Staging[edit]
The Masaoka Staging System is used widely and is based on the anatomic extent of disease at the time of surgery:[6]
* I: Completely encapsulated
* IIA: Microscopic invasion through the capsule into surrounding fatty tissue
* IIB: Macroscopic invasion into capsule
* III: Macroscopic invasion into adjacent organs
* IVA: Pleural or pericardial implants
* IVB: Lymphogenous or hematogenous metastasis to distant (extrathoracic) sites
## Treatment[edit]
Surgery is the mainstay of treatment for thymoma. If the tumor is apparently invasive and large, preoperative (neoadjuvant) chemotherapy and/or radiotherapy may be used to decrease the size and improve resectability, before surgery is attempted. When the tumor is an early stage (Masaoka I through IIB), no further therapy is necessary. Removal of the thymus in adults does not appear to induce immune deficiency. In children, however, postoperative immunity may be abnormal and vaccinations for several infectious agents are recommended. Invasive thymomas may require additional treatment with radiotherapy and chemotherapy (cyclophosphamide, doxorubicin and cisplatin).[1][citation needed]. Recurrences of thymoma are described in 10-30% of cases up to 10 years after surgical resection, and in the majority of cases also pleural recurrences can be removed. Recently, surgical removal of pleural recurrences can be followed by hyperthermic intrathoracic perfusion chemotherapy or intrathoracic hyperthermic perfused chemotherapy (ITH).
## Prognosis[edit]
Prognosis is much worse for stage III or IV thymomas as compared with stage I and II tumors. Invasive thymomas uncommonly can also metastasize, generally to pleura, bones, liver or brain in approximately 7% of cases.[1] A study found that slightly over 40% of observed patients with stage III and IV tumors survived for at least 10 years after diagnosis. The median age of these patients at the time of thymoma diagnosis was 57 years. [7]
Patients who have undergone thymectomy for thymoma should be warned of possible severe side effects after yellow fever vaccination. This is probably caused by inadequate T-cell response to live attenuated yellow fever vaccine. Deaths have been reported.[citation needed]
## Epidemiology[edit]
Men and women are equally affected by thymomas. The typical age at diagnosis is 30–40, although cases have been described in every age group, including children.[1]
## Gallery[edit]
* An encapsulated cystic thymoma.
* A locally invasive circumscribed thymoma (mixed lymphocytic and epithelial, mixed polygonal and spindle).
* Histopathological image of thymoma type B1. Anterior mediastinal mass surgically resected. Hematoxylin & eosin stain.
* Histopathological image of thymoma type B1. Anterior mediastinal mass surgically resected. Cytokeratin CAM5.2 immunostain.
* Histopathological image representing a noninvasive thymoma type B1, surgically resected. Hematoxylin & eosin.
* Thymoma. FNA specimen. Field stain.
## See also[edit]
* Mediastinal tumor
## References[edit]
1. ^ a b c d e f g h i j Thomas CR, Wright CD, Loehrer PJ (July 1999). "Thymoma: state of the art". Journal of Clinical Oncology. 17 (7): 2280–9. doi:10.1200/JCO.1999.17.7.2280. PMID 10561285.
2. ^ Mitchell, Richard Sheppard; Kumar, Vinay; Robbins, Stanley L.; Abbas, Abul K.; Fausto, Nelson (2007). Robbins basic pathology. Saunders/Elsevier. ISBN 978-1-4160-2973-1.[page needed]
3. ^ Bernard C, Frih H, Pasquet F, Kerever S, Jamilloux Y, Tronc F, Guibert B, Isaac S, Devouassoux M, Chalabreysse L, Broussolle C, Petiot P, Girard N, Sève P (January 2016). "Thymoma associated with autoimmune diseases: 85 cases and literature review". Autoimmunity Reviews. 15 (1): 82–92. doi:10.1016/j.autrev.2015.09.005. PMID 26408958.
4. ^ Dadmanesh F, Sekihara T, Rosai J (May 2001). "Histologic typing of thymoma according to the new World Health Organization classification". Chest Surgery Clinics of North America. 11 (2): 407–20. PMID 11413764.
5. ^ van Geffen WH, Sietsma J, Roelofs PM, Hiltermann TJ (December 2011). "A malignant retroperitoneal mass--a rare presentation of recurrent thymoma". BMJ Case Reports. 2011: bcr0920114737. doi:10.1136/bcr.09.2011.4737. PMC 3229325. PMID 22674945.
6. ^ Masaoka A, Monden Y, Nakahara K, Tanioka T (December 1981). "Follow-up study of thymomas with special reference to their clinical stages". Cancer. 48 (11): 2485–92. doi:10.1002/1097-0142(19811201)48:11<2485::AID-CNCR2820481123>3.0.CO;2-R. PMID 7296496.
7. ^ Wilkins KB, Sheikh E, Green R, Patel M, George S, Takano M, Diener-West M, Welsh J, Howard S, Askin F, Bulkley GB (October 1999). "Clinical and pathologic predictors of survival in patients with thymoma". Annals of Surgery. 230 (4): 562–72, discussion 572–4. doi:10.1097/00000658-199910000-00012. PMC 1420905. PMID 10522726.
## External links[edit]
Classification
D
* ICD-10: C37, D15.0
* ICD-9-CM: 164.0, 212.6
* ICD-O: 8580
* MeSH: D013945
* DiseasesDB: 13067
* SNOMED CT: 128856005
External resources
* MedlinePlus: 001086
* eMedicine: med/2752 med/3448 ped/2246
* Orphanet: 99867
* v
* t
* e
Glandular and epithelial cancer
Epithelium
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* Transitional cell carcinoma
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* Warthin's tumor
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adenocarcinomas
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* tract: Linitis plastica
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* Prolactinoma
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* v
* t
* e
Lymphatic disease: organ and vessel diseases
Thymus
* Abscess
* Hyperplasia
* Hypoplasia
* DiGeorge syndrome
* Ectopic thymus
* Thymoma
* Thymic carcinoma
Spleen
* Asplenia
* Asplenia with cardiovascular anomalies
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* Lymphadenopathy
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* see Template:Respiratory pathology
Lymphatic vessels
* Lymphangitis
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* Waldmann disease
Authority control
* NDL: 00577261
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Thymoma
|
c0040100
| 28,094 |
wikipedia
|
https://en.wikipedia.org/wiki/Thymoma
| 2021-01-18T18:39:36 |
{"mesh": ["D013945"], "umls": ["CL371354", "C0040100"], "icd-9": ["164.0", "212.6"], "icd-10": ["C37", "D15.0"], "orphanet": ["99867"], "wikidata": ["Q1429863"]}
|
Convergence Insufficiency
Other namesConvergence disorder
SpecialtyOphthalmology, optometry
Convergence insufficiency is a sensory and neuromuscular anomaly of the binocular vision system, characterized by a reduced ability of the eyes to turn towards each other, or sustain convergence.
## Contents
* 1 Symptoms
* 2 Diagnosis
* 3 Treatment
* 4 Prevalence
* 5 See also
* 6 References
* 7 External links
## Symptoms[edit]
The symptoms and signs associated with convergence insufficiency are related to prolonged, visually demanding, near-centered tasks. They may include, but are not limited to, diplopia (double vision), asthenopia (eye strain), transient blurred vision, difficulty sustaining near-visual function, abnormal fatigue, headache, and abnormal postural adaptation, among others. In some cases, difficulty with making eye contact have been noted as a complaint amongst sufferers. Note that some Internet resources confuse convergence and divergence dysfunction, reversing them.
## Diagnosis[edit]
Diagnosis of convergence insufficiency is made by an eye care professional skilled in binocular vision dysfunctions, such as an orthoptist to rule out any organic disease. Convergence insufficiency characterized by one or more of the following diagnostic findings: Patient symptoms, High exophoria at near, reduced accommodative convergence/accommodation ratio, receded near point of convergence, low fusional vergence ranges and/or facility. Some patients with convergence insufficiency have concurrent accommodative insufficiency—accommodative amplitudes should therefore also be measured in symptomatic patients.
## Treatment[edit]
Convergence insufficiency may be treated with convergence exercises prescribed by an eyecare specialist trained in orthoptics or binocular vision anomalies (see: Vision Therapy). Some cases of convergence insufficiency are successfully managed by prescription of eyeglasses, sometimes with therapeutic prisms.
Pencil push-ups therapy is performed at home. Patient brings a pencil slowly to within 2–3 cm of the eye just above the nose about 15 minutes per day 5 times per week. Patients should record the closest distance that they could maintain fusion (keep the pencil from going double as long as possible) after each 5 minutes of therapy. Computer software may be used at home or in an orthoptists/vision therapists office to treat convergence insufficiency. A weekly 60-minute in-office therapy visit may be prescribed. This is generally accompanied with additional in home therapy.[1]
In 2005, the Convergence Insufficiency Treatment Trial (CITT) published two randomized clinical studies. The first, published in Archives of Ophthalmology demonstrated that computer exercises when combined with office based vision therapy/orthoptics were more effective than "pencil pushups" or computer exercises alone for convergency insufficiency in 9- to 18-year-old children.[2] The second found similar results for adults 19 to 30 years of age.[3] In a bibliographic review of 2010, the CITT confirmed their view that office-based accommodative/vergence therapy is the most effective treatment of convergence insufficiency, and that substituting it in entirety or in part with other eye training approaches such as home-based therapy may offer advantages in cost but not in outcome.[4] A later study of 2012 confirmed that orthoptic exercises led to longstanding improvements of the asthenopic symptoms of convergence sufficiency both in adults and in children.[5] A 2011 Cochrane Review reaffirmed that office-based therapy is more effective than home-based therapy, though the evidence of effectiveness is a lot stronger for children than for the adult population.[6]
Both positive fusional vergence (PFV)[7] and negative fusional vergence (NFV)[8] can be trained, and vergence training should normally include both.[9][10] Surgical correction options are also available, but the decision to proceed with surgery should be made with caution as convergence insufficiency generally does not improve with surgery. Bilateral medial rectus resection is the preferred type of surgery. However, the patient should be warned about the possibility of uncrossed diplopia at distance fixation after surgery. This typically resolves within 1–3 months postoperatively. The exophoria at near often recurs after several years, although most patients remain asymptomatic.
## Prevalence[edit]
Among fifth and sixth grade children convergence insufficiency is 13%.[11] In studies that used standardized definitions of Convergence insufficiency, investigators have reported a prevalence of 4.2% to 6% in school and clinic settings. The standard definition of Convergence insufficiency is exophoria greater at near than at distance, a receded near point of convergence, and reduced convergence amplitudes at near.[1]
## See also[edit]
* Medicine portal
* Amblyopia
* Strabismus
* Brock string
* Ophthalmology
* Optometry
* Orthoptics
* Vision therapy
* Positive relative accommodation
* Negative relative accommodation
## References[edit]
1. ^ a b Convergence Insufficiency Treatment Trial (CITT) Study, Group (Jan–Feb 2008). "The convergence insufficiency treatment trial: design, methods, and baseline data". Ophthalmic Epidemiology. 15 (1): 24–36. doi:10.1080/09286580701772037. PMC 2782898. PMID 18300086.
2. ^ Scheiman M, Mitchell GL, Cotter S, Cooper J, Kulp M, Rouse M, Borsting E, London R, Wensveen J, Convergence Insufficiency Treatment Trial Study Group (Jan 2005). "A randomized clinical trial of treatments for convergence insufficiency in children". Arch Ophthalmol. 123 (1): 14–24. doi:10.1001/archopht.123.1.14. PMID 15642806.CS1 maint: multiple names: authors list (link)
3. ^ Scheiman M, Mitchell GL, Cotter S, Kulp MT, Cooper J, Rouse M, Borsting E, London R, Wensveen J (Jul 2005). "A randomized clinical trial of vision therapy/orthoptics versus pencil pushups for the treatment of convergence insufficiency in young adults". Optom Vis Sci. 82 (7): 583–95. doi:10.1097/01.opx.0000171331.36871.2f. PMID 16044063.
4. ^ "Treatment of Convergence Insufficiency in Childhood: A Current Perspective". Optom Vis Sci. 86 (5). May 2009. pp. 420–428. doi:10.1097/OPX.0b013e31819fa712. PMC 2821445. PMC 2821445, NIHMSID:NIHMS153855
5. ^ Matti Westman; M. Johanna Liinamaa (May 2012). "Relief of asthenopic symptoms with orthoptic exercises in convergence insufficiency is achieved in both adults and children". Journal of Optometry. 5 (2). pp. 62–67. doi:10.1016/j.optom.2012.03.002.
6. ^ Scheiman M, Gwiazda J, Li T (2011). "Non-surgical interventions for convergence insufficiency". Cochrane Database Syst Rev. 3 (3): CD006768. doi:10.1002/14651858.CD006768.pub2. PMC 4278667. PMID 21412896.
7. ^ P. Thiagarajan; V. Lakshminarayanan; W.R. Bobier (Jul 2010). "Effect of vergence adaptation and positive fusional vergence training on oculomotor parameters". Optom Vis Sci. 7 (87). pp. 487–493. doi:10.1097/OPX.0b013e3181e19ec2. PMID 20473234.
8. ^ K.M. Daum (July 1986). "Negative vergence training in humans". Am J Optom Physiol Opt. 7 (63). pp. 487–496. PMID 3740204.
9. ^ Mitchell Scheiman; Bruce Wick (2008). Clinical Management of Binocular Vision: Heterophoric, Accommodative, and Eye Movement Disorders. Lippincott Williams & Wilkins. p. 165. ISBN 978-0-7817-7784-1.
10. ^ Deshmukh, Saurabh; Magdalene, Damaris; Dutta, Pritam; Choudhury, Mitalee; Gupta, Krati (2017-07-01). "Clinical profile of nonstrabismic binocular vision anomalies in patients with asthenopia in North-East India". TNOA Journal of Ophthalmic Science and Research. 55 (3): 182. doi:10.4103/tjosr.tjosr_36_17.
11. ^ http://journals.lww.com/optvissci/Fulltext/1999/09000/Frequency_of_Convergence_Insufficiency_Among_Fifth.22.aspx
## External links[edit]
Classification
D
* ICD-10: H51.1
* ICD-10-CM: H51.11
* ICD-9-CM: 378.83
* MeSH: D015835
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*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Convergence insufficiency
|
c0271379
| 28,095 |
wikipedia
|
https://en.wikipedia.org/wiki/Convergence_insufficiency
| 2021-01-18T18:56:52 |
{"mesh": ["D015835"], "icd-9": ["378.83"], "icd-10": ["H51.1"], "wikidata": ["Q5166383"]}
|
For a phenotypic description and a discussion of genetic heterogeneity of nonsyndromic cleft lip/palate (CL/P), see 119530.
Mapping
In 2 Indian pedigrees with isolated, nonsyndromic cleft lip with or without cleft palate segregating as an autosomal dominant trait, Radhakrishna et al. (2006) demonstrated linkage to 13q33.1-q34, with a nonparametric linkage score of 5.57 at marker rs1830756. Haplotype analysis with informative crossovers enabled the mapping of a CL/P locus to a region of approximately 20.17 cM (7.42 Mb) between SNPs rs951095 and rs726455. The phenotype was variable, ranging from unilateral to bilateral CL/P. The authors noted that CL/P is very common in patients with trisomy involving all or part of chromosome 13 (Berge et al., 2001).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
OROFACIAL CLEFT 9
|
c0158646
| 28,096 |
omim
|
https://www.omim.org/entry/610361
| 2019-09-22T16:04:40 |
{"doid": ["0080402"], "omim": ["610361"], "orphanet": ["199306", "199302", "141291"], "synonyms": ["Alternative titles", "CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 9"]}
|
A number sign (#) is used with this entry because of evidence that X-linked parkinsonism with spasticity (XPDS) is caused by hemizygous mutation in the ATP6AP2 gene (300556) on chromosome Xp11. One such family has been reported.
Mutation in the ATP6AP2 gene can also cause a form of syndromic X-linked mental retardation (MRXSH; 300423) that has overlapping features.
Clinical Features
Poorkaj et al. (2010) reported a multigenerational family of Danish and German descent in which 5 males in 3 generations presented with a unique syndrome characterized by parkinsonian features and variably penetrant spasticity. The age at symptom onset ranged from 14 to 50 years, with the most recent generation showing an earlier age of onset than the older generations. Two individuals had only a parkinsonian syndrome, with classic features of cogwheel rigidity, resting tremor, and bradykinesia. Three other patients first showed spasticity with hyperreflexia and extensor plantar responses followed by the development of parkinsonian features. The disorder was slowly progressive. The most severely affected individual had onset of spastic paraparesis at age 14 years followed by resting tremor and bradykinesia. Fluoro-DOPA PET scan showed decreased uptake in the putamen. He had a mild response to L-DOPA, but developed dystonic dyskinesias. Postmortem examination of 1 of the patients with only parkinsonism showed neuronal loss in the substantia nigra without Lewy body deposition. However, there was some Alzheimer disease-like pathology in the striatum and 4-repeat tau (MAPT; 157140)-positive plaques. Carrier females were unaffected.
Inheritance
The transmission pattern of XPDS in the family reported by Poorkaj et al. (2010) was consistent with X-linked recessive inheritance.
Mapping
By linkage analysis of a family with X-linked parkinsonism and spasticity, Poorkaj et al. (2010) found linkage to a 28-Mb region on chromosome Xp11.2-q13.3 (multipoint lod score of 2.068 was obtained between markers DXS991 and DXS993). Sequencing of several candidate genes in this interval failed to identify any pathogenic mutations.
Molecular Genetics
In affected members of a family with X-linked parkinsonism with spasticity, originally reported by Poorkaj et al. (2010), Korvatska et al. (2013) identified a c.345C-T transition in the ATP6AP2 gene (S115S; 300556.0002) that was shown to increase the skipping of exon 4, resulting in significant overexpression (about 50%) of a 150-bp minor splice isoform that produces a protein with internal deletion of 32 amino acids. The increase in this abnormal isoform was associated with a reduction in normal isoforms containing exon 4. The mutation, which was found by X-chromosome exome sequencing and confirmed by Sanger sequencing, segregated with the phenotype. It was not found in the dbSNP, 1000 Genomes Project, or Exome Variant Server databases. Postmortem brain tissue from 1 affected individual showed decreased ATP6AP2 immunostaining in the frontal cortex and striatum. In addition, there was massive accumulation of SQSTM1 (601530) in the striatum, suggesting impaired autophagy and a defect in lysosome-mediated protein degradation.
INHERITANCE \- X-linked recessive NEUROLOGIC Central Nervous System \- Parkinsonism \- Cogwheel rigidity \- Bradykinesia \- Resting tremor \- Masked facies \- Spasticity (in some patients) \- Hyperreflexia (in some patients) \- Extensor plantar responses (in some patients) \- Four-repeat tau plaques in the striatum MISCELLANEOUS \- One family has been reported (last curated November 2013) \- Variable age at onset (range 14 to 50 years) \- Some response to L-DOPA therapy \- Spasticity occurs before parkinsonism \- Slowly progressive MOLECULAR BASIS \- Caused by mutation in the ATPase, H+ transporting, lysosomal, accessory protein-2 gene (ATP6AP2, 300556.0002 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
PARKINSONISM WITH SPASTICITY, X-LINKED
|
c3806722
| 28,097 |
omim
|
https://www.omim.org/entry/300911
| 2019-09-22T16:19:16 |
{"omim": ["300911"], "orphanet": ["363654"], "synonyms": ["XPDS"]}
|
Subinvolution is a medical condition in which after childbirth, the uterus does not return to its normal size.
## Contents
* 1 Presentation
* 1.1 Symptoms
* 1.2 Signs
* 2 Causes
* 2.1 Predisposing factors
* 2.2 Aggravating factors
* 3 Factors
* 4 Diagnosis
* 4.1 Definition
* 5 Management
* 6 References
## Presentation[edit]
### Symptoms[edit]
The condition may be asymptomatic. The predominant symptoms are:
* Abnormal lochial discharge either excessive or prolonged
* Irregular or at times excessive uterine bleeding
* Irregular cramp like pain is cases of retained products or rise of temperature in sepsis
### Signs[edit]
1. The uterine height is greater than the normal for the particular day of puerperium. Normal puerperal uterus may be displaced by a full bladder or a loaded rectum. It feels boggy and softer upon palpation.
2. Presence of features responsible for subinvolution may be evident.
## Causes[edit]
### Predisposing factors[edit]
1. Grand multiparity
2. Overdistension of uterus as in twins and hydramnios
3. Ill maternal health
4. Caesarean section
5. Uterine prolapse
6. Retroversion after the uterus becomes pelvic organ
7. Uterine fibroid
### Aggravating factors[edit]
* Retained products of conception
* Uterine sepsis, endometritis
## Factors[edit]
* Persistent lochia/fresh bleeding
* Long labor
* Anesthesia
* Full bladder
* Difficult delivery
* Retained placenta
* Maternal infection
## Diagnosis[edit]
### Definition[edit]
When the involution is impaired or retarded it is called subinvolution. The uterus is the most common organ affected by subinvolution. As it is the most accessible organ to be measured per abdomen, the uterine involution is considered clinically as an index to assess subinvolution.
## Management[edit]
* Antibiotics in endometritis
* Exploration of the uterus in retained products
* Pessary in prolapse or retroversion.
* Ergometrine so often prescribed to enhance the involution process by reducing the blood flow of the uterus is of no value in prophylaxis.
## References[edit]
* DC Dutta Textbook of obstetrics sixth edition
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Subinvolution
|
None
| 28,098 |
wikipedia
|
https://en.wikipedia.org/wiki/Subinvolution
| 2021-01-18T18:41:15 |
{"icd-10": ["O90.8"], "wikidata": ["Q7631344"]}
|
A number sign (#) is used with this entry because of evidence that X-linked Asperger syndrome-2 (ASPGX2) is conferred by variation mutation in the NLGN4 gene (300427) on chromosome Xp22.
Description
Asperger syndrome is considered to be a form of childhood autism (see, e.g., 209850). The DSM-IV (American Psychiatric Association, 1994) specifies several diagnostic criteria for Asperger syndrome, which has many of the same features as autism. In general, patients with Asperger syndrome and autism exhibit qualitative impairment in social interaction, as manifest by impairment in the use of nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures, failure to develop appropriate peer relationships, and lack of social sharing or reciprocity. Patients also exhibit restricted, repetitive and stereotyped patterns of behavior, interests, and activities, including abnormal preoccupation with certain activities and inflexible adherence to routines or rituals. Asperger syndrome is primarily distinguished from autism by the higher cognitive abilities and a more normal and timely development of language and communicative phrases. Gillberg et al. (2001) described the development of the Asperger syndrome (and high-functioning autism) Diagnostic Interview (ASDI), which they claimed has a strong validity in the diagnosis of the disorder.
For a discussion of genetic heterogeneity of Asperger syndrome, see 608638.
Molecular Genetics
In a boy with X-linked Asperger syndrome, Jamain et al. (2003) identified a mutation in the NLGN4 gene (300427.0001). His brother, who had X-linked autism (300495), had the same mutation.
INHERITANCE \- X-linked NEUROLOGIC Central Nervous System \- Normal, timely language development Behavioral Psychiatric Manifestations \- Impaired social interactions \- Impaired use of nonverbal behaviors, such as eye-to-eye gaze, facial expression, body posture, and gestures \- Impaired ability to form peer relationships \- Lack of spontaneous play \- Restrictive behavior, interests, and activities \- Stereotyped, repetitive behavior \- Inflexible adherence to routines or rituals \- Relatively higher cognitive abilities than classic autism MISCELLANEOUS \- Onset in early childhood \- Genetic heterogeneity (see 608638 ) MOLECULAR BASIS \- Associated with mutation in the neuroligin-4 gene (NLGN4, 300427.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2
|
c1845334
| 28,099 |
omim
|
https://www.omim.org/entry/300497
| 2019-09-22T16:20:09 |
{"omim": ["300497"]}
|
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