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Pachydermodactyly is a distinct form of digital fibromatosis characterized by asymptomatic bulbous, soft-tissue swelling around the proximal phalanges and/or proximal interphalangeal joints of the hands (Curley et al., 1991; Reichert et al., 1985). Russo et al. (1994) reported the disorder in a mother and daughter. They stated that only 15 cases had been reported previously, all with a negative family history. Only one of the previously reported cases was a woman (Draluck et al., 1992).
Limbs \- Pachydermodactyly \- Digital fibromatosis \- Bulbous, soft-tissue swelling around proximal phalanges and/or proximal interphalangeal joints of hands 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
|
PACHYDERMODACTYLY, FAMILIAL
|
c1838218
| 27,900 |
omim
|
https://www.omim.org/entry/600356
| 2019-09-22T16:16:14 |
{"mesh": ["C563947"], "omim": ["600356"]}
|
## Clinical Features
Malchoff et al. (1999) studied an unusually large 3-generation family with papillary thyroid carcinoma (PTC; see 188550). To characterize more fully the clinical phenotype of familial PTC, Malchoff et al. (2000) investigated the clinical and pathologic characteristics of this kindred. In addition to the known association of PTC with nodular thyroid disease, they observed the otherwise rare entity of papillary renal neoplasia (PRN; see 605074) in 2 kindred members, one affected with PTC and the other an obligate carrier. Malchoff et al. (2000) considered the multifocality of PRN in 1 subject to add weight to the likelihood of a true genetic predisposition to PRN.
Mapping
In a large 3-generation kindred with PTC, thyroid nodules, and papillary renal neoplasia, Malchoff et al. (2000) performed linkage analysis to determine the chromosomal location of a susceptibility gene. A maximum 3-point log of likelihood ratio score of 3.58 was observed for markers D1S2343 and D1S2345 and for markers D1S2343 and D1S305. Critical recombination events limited the region of linkage to approximately 20 cM on chromosome 1q21. Both genetic linkage and sequence analysis excluded MET (164860), the protooncogene of isolated familial PRN, as the cause of the PTC/PRN phenotype.
*[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
|
THYROID CARCINOMA, PAPILLARY, WITH PAPILLARY RENAL NEOPLASIA
|
c1854104
| 27,901 |
omim
|
https://www.omim.org/entry/605642
| 2019-09-22T16:11:08 |
{"mesh": ["C565310"], "omim": ["605642"], "orphanet": ["97290"], "synonyms": ["Alternative titles", "PTCPRN", "PRN1"]}
|
A number sign (#) is used with this entry because of evidence that lattice type IIIA corneal dystrophy (CDL3A) is caused by heterozygous mutation in the TGFBI gene (601692) on chromosome 5q31.
The TGFB1 gene is mutant in several other forms of corneal dystrophy, including Reis-Bucklers corneal dystrophy (CDRB; 608470), Thiel-Behnke corneal dystrophy (CDTB; 602082), lattice type I corneal dystrophy (CDL1; 122200), Avellino corneal dystrophy (ACD; 607541), and Groenouw type I corneal dystrophy (CDGG1; 121900).
Clinical Features
Yamamoto et al. (1998) used the designation lattice corneal dystrophy type IIIA for a disorder that resembled type III (204870) clinically but differed in that its age of onset was late (70 to 90 years) and it had an autosomal dominant inheritance pattern; see 601692.0005.
Molecular Genetics
Yamamoto et al. (1998) identified a mutation in the TGFBI gene (601692.0005) that caused type IIIA lattice corneal dystrophy.
Stix et al. (2005) identified a missense mutation in the TGFBI gene (601692.0010) in a family with type IIIA lattice corneal dystrophy and corneal amyloid deposits that contained proteolytic fragments of keratoepithelin.
INHERITANCE \- Autosomal dominant HEAD & NECK Eyes \- Lattice corneal dystrophy \- Thick ropy lattice lines in the corneal stroma \- Corneal erosions \- Amyloid deposits in corneal stroma \- Decreased visual acuity MISCELLANEOUS \- Onset 70-90 years \- Allelic corneal dystrophy Groenow type ( 121900 ), Thiel-Behnke type ( 602082 ), lattice type I ( 122200 ), Avellino type ( 607541 ), Reis-Bucklers type ( 608470 ) and epithelial basement membrane ( 121820 ) MOLECULAR BASIS \- Caused by mutation in the transforming growth factor, beta-induced, 68kD gene (TGFBI, 601692.0005 ) ▲ 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
|
CORNEAL DYSTROPHY, LATTICE TYPE IIIA
|
c1690006
| 27,902 |
omim
|
https://www.omim.org/entry/608471
| 2019-09-22T16:07:45 |
{"mesh": ["C537881"], "omim": ["608471"], "orphanet": ["98964"], "synonyms": ["Alternative titles", "LATTICE CORNEAL DYSTROPHY, TYPE IIIA"]}
|
Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described.
## Epidemiology
To date <100 cases have been described in the literature.
## Clinical description
Caffey disease is characterized by periosteal new bone formation which leads to cortical thickening (hyperostosis) of the affected bone. The bone lesions are often asymmetric with a characteristic involvement of the mandible (70-90% of cases), clavicle, ribs and scapula (20-30%), skull, ilium, long bones. Typically the disease presents with fever and/or pallor, joint swelling (adjacent to involved bones), pain and irritability between birth and age 5 months (average age of onset is 9 weeks). When the mandible is affected, infants may refuse to eat, leading to failure to thrive. The pain may be severe enough to result in pseudo paralysis and individual nerve involvement may result in true localized palsies. The swelling becomes wood hard and fixes to underlying tender bone, but edematous soft tissue remains freely mobile and is never discolored. A prenatal form exists that presents before 35 weeks gestation and is potentially lethal. It is characterized by corticial hyperostosis, bowing or angulation of the long bones and presence of polyhydramnios and fetal lung disease.
## Etiology
Autosomal dominant Caffey disease is caused by a mutation in the COL1A1 gene (17q21.33). Additional genetic or environmental conditions may be required for the manifestation of the disease. In addition to the autosomal dominant form, several Caffey cases have been described, in which no COL1A1 mutation could be identified.
## Diagnostic methods
Diagnosis is based on clinical features and radiologic findings of subperiosteal cortical hyperostosis of the diaphyses of the long bones (with sparing of the epiphyses), ribs, scapulae, clavicles, and mandible in a child age 2 months to 5 years. Magnetic resonance imaging of bone can also detect inflammatory signals in adjacent muscle, connective tissue, and in the bone marrow. Laboratory findings include elevated erythrocyte sedimentation and alkaline phosphatase levels along with increased C-reactive protein and immunoglobulin levels. Diagnosis is confirmed by genetic screening.
## Differential diagnosis
Differential diagnosis includes osteogenesis imperfecta, Ehlers-Danlos syndrome, arthrochalasia type, mucopolysaccharidosis type 2 and Hurler syndrome (see these terms), non-accidental childhood injury, hypervitaminosis A, prostaglandin E1 exposure, bone malignancies, osteomyelitis and parotitis.
## Antenatal diagnosis
Prenatal and preimplantation genetic diagnosis for at-risk pregnancies require prior identification of the disease-causing mutation in the family. On rare occasions, hyperostosis can be detected by ultrasound late in the 3rd trimester of pregnancy, even for the autosomal dominant form.
## Genetic counseling
Caffey disease either occurs sporadically or is inherited in an autosomal dominant manner with incomplete penetrance. The prenatal form is thought to be inherited in an autosomal recessive manner.
## Management and treatment
Management is mainly supportive and includes use of non-steroidal anti-inflammatory drugs or corticosteroids to improve inflammation and pain, antipyretics, and analgesics in the short term to decrease fever and to relieve pain. Yearly evaluation of linear growth, dental health, joint range of motion re-extensibility, possible hernias and fracture history is recommended.
## Prognosis
Caffey disease usually has a favorable prognosis as it spontaneously resolves by the age of 2 years. However, the disease sometimes recurs in childhood or adolescence. Moreover, adults who had Caffey disease in childhood may manifest joint laxity, skin hyperextensibility, hernias, and an increased risk for bone fractures and/or deformities.
*[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
|
Caffey disease
|
c0020497
| 27,903 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1310
| 2021-01-23T19:00:54 |
{"gard": ["1051"], "mesh": ["D006958"], "omim": ["114000"], "umls": ["C0020497"], "icd-10": ["M89.8"], "synonyms": ["Infantile cortical hyperostosis"]}
|
A number sign (#) is used with this entry because of evidence that a syndrome involving skeletal defects, genital hypoplasia, and mental retardation is caused by mutation in the ZBTB16 gene (176797).
Clinical Features
Wieczorek et al. (2002) described a 5-year-old boy who had bilateral absence of thumbs, right-sided aplasia and left-sided hypoplasia of the radius, bilateral ulnar hypoplasia, bifid right hallux, short stature, microcephaly, cryptorchidism, micropenis, and mental retardation. Additional findings included 13 ribs bilaterally, delayed bone age, and mild facial dysmorphism. Brain and renal ultrasonography, echocardiography, ophthalmologic examination, and MRI of the brain were normal.
Fischer et al. (2008) reexamined the boy originally reported by Wieczorek et al. (2002) at age 12.75 years and found that he had short stature, microcephaly, and severe mental retardation; facial dysmorphism consisted of strabismus, a small mouth with thin lips, and a protruding right ear which had been surgically corrected. Additional clinical findings included a long trunk, hypoplastic right clavicle and scapula, hyperelastic knee joints with hypoplastic and laterally displaced right patella, surgically corrected bifid and medially deviated right great toe, hypoplastic forearms, and oligodactyly with bilateral pollicization of the index fingers. The humeri, femurs, tibias, and fibulas were shortened compared to reference data. MRI scan of the right knee showed a small patella, hypoplastic medial and lateral menisci, a rudimentary posterior cruciate ligament with a cystic structure, and absence of the anterior cruciate ligament. MRI of the brain did not reveal any abnormalities.
Cytogenetics
In a 5-year-old boy with skeletal defects, genital hypoplasia, and mental retardation, Wieczorek et al. (2002) performed G- and C-banded chromosome analysis that revealed a normal male karyotype; high-resolution comparative genomic hybridization (CGH) was also normal.
Molecular Genetics
In a 12.75-year-old boy with skeletal defects, genital hypoplasia, and mental retardation, originally reported by Wieczorek et al. (2002), Fischer et al. (2008) performed array-based CGH and identified an approximately 8-Mb de novo deletion on the paternal chromosome 11, a region containing about 72 genes. Sequence analysis of the candidate gene ZBTB16 (176797) on the maternal allele revealed a missense mutation (176797.0001); functional analysis showed that the mutation impairs ZBTB16 function. The mother, who was a heterozygous carrier of the mutation, had no hand or forearm abnormalities on x-ray examination. No mutations were found in the ZBTB16 gene in 41 patients who had clinical overlap with this patient, including patients with thrombocytopenia-absent radius syndrome (274000), a tentative diagnosis of Holt-Oram syndrome (142900), or severe radial defects.
INHERITANCE \- Autosomal recessive GROWTH Height \- Short stature HEAD & NECK Head \- Microcephaly Face \- Dysmorphic face Ears \- Protruding right ear Eyes \- Strabismus Mouth \- Small mouth \- Thin lips CHEST Ribs Sternum Clavicles & Scapulae \- 13 pairs of ribs \- Hypoplastic right clavicle \- Hypoplastic right scapula GENITOURINARY External Genitalia (Male) \- Micropenis Internal Genitalia (Male) \- Cryptorchidism SKELETAL Skull \- Microcephaly Limbs \- Radial aplasia/hypoplasia \- Ulnar hypoplasia \- Delayed bone age \- Shortened humeri \- Shortened femurs \- Shortened tibiae \- Shortened fibulae \- Hyperelastic knee joints \- Hypoplastic patella, unilateral Hands \- Absent thumbs, bilaterally Feet \- Bifid hallux, unilateral NEUROLOGIC Central Nervous System \- Mental retardation MOLECULAR BASIS \- Caused by mutation in the zinc finger- and BTB domain-containing protein 16 gene (ZBTB16, 176797.0001 ) ▲ 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
|
SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION
|
c2676231
| 27,904 |
omim
|
https://www.omim.org/entry/612447
| 2019-09-22T16:01:27 |
{"mesh": ["C567306"], "omim": ["612447"]}
|
Alcoholic ketoacidosis
Other namesAlcoholic ketosis, alcoholic acidosis[1]
It generally occurs in chronic alcoholics or those who binge drink[2]
SpecialtyInternal medicine
SymptomsAbdominal pain, vomiting, agitation, fast respiratory rate, specific "fruity" smell[2]
Risk factorsAlcoholism, binge drinking[2]
Diagnostic methodBased on symptoms[2]
Differential diagnosisOther causes of high anion gap metabolic acidosis (diabetic ketoacidosis, toxic alcohol ingestion, starvation ketosis), pancreatitis[2][3]
TreatmentIntravenous fluids, thiamine[2]
PrognosisGood with treatment[1]
Alcoholic ketoacidosis (AKA) is a specific group of symptoms and metabolic state related to alcohol use.[3] Symptoms often include abdominal pain, vomiting, agitation, a fast respiratory rate, and a specific "fruity" smell.[2] Consciousness is generally normal.[1] Complications may include sudden death.[1]
AKA most commonly occurs in long term alcoholics and less commonly in those who binge drink.[2] Onset is generally after a decreased ability to eat for a few days.[2] Diagnosis is generally based on symptoms.[2] Blood sugar levels are often normally or only mildly increased.[2] Other conditions that may present similarly include other causes of high anion gap metabolic acidosis including diabetic ketoacidosis.[2]
Treatment is generally with intravenous normal saline and intravenous sugar solution.[2] Thiamine and measures to prevent alcohol withdrawal are also recommended.[2] Treatment of low blood potassium may also be required.[2] Those who are affected are most frequently between the ages of 20 and 60.[2] The condition was initially recognized in 1940 and named in 1971.[3]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Diagnosis
* 3.1 Differential diagnosis
* 4 Management
* 5 Prognosis
* 6 History
* 7 References
* 8 External links
## Signs and symptoms[edit]
Nausea, vomiting, and abdominal pain are commonly present and people may also have tachypnea, tachycardia, and hypotension.[4] In contrast to diabetic ketoacidosis, people with alcoholic ketoacidosis are usually alert and lucid despite the severity of the acidosis.[1]
## Causes[edit]
Alcoholic ketoacidosis is caused by complex physiology that is the result of prolonged and heavy alcohol intake, usually in the setting of poor nutrition. Chronic alcohol use can cause depleted hepatic glycogen stores and ethanol metabolism further impairs gluconeogenesis. This can reduce glucose availability and lead to hypoglycemia and increased reliance on fatty acid and ketone metabolism.[1][5] An additional stressor such as vomiting or dehydration can cause an increase in counterregulatory hormones such as glucagon, cortisol and growth hormone which may further increase free fatty acid release and ketone production. Ethanol metabolism can also increase blood lactic acid levels which may also contribute to a metabolic acidosis.[6]
## Diagnosis[edit]
Diagnosis is generally based on symptoms.[2] An elevated anion gap metabolic acidosis and ketosis is the classic present.[3] However, a mixed acid-base disorder may be present especially if vomiting is contributing to a hypochloremic alkalosis.[2] The ketone which is present is mostly beta-hydroxybutryate rather than acetoacetate resulting in only a weakly positive nitroprusside test.[2] People usually do not present with high blood sugar or sugar in the urine.[2] This can cause false negative results when testing urine ketones as they only measure acetoacetate. Ethanol level are often low or negative despite a chronic alcohol use history.[6] Electrolyte disturbances may include hypokalemia or hypomagnesemia may also be present.[2]
### Differential diagnosis[edit]
Other conditions that may present similarly include other causes of high anion gap metabolic acidosis such as diabetic ketoacidosis, toxic alcohol ingestion, and starvation ketosis.[2] Toxic alcohol ingestion include methanol and ethylene glycol poisoning.[6] Pancreatitis, alcoholic hepatitis, and gastritis may also result in similar symptoms.[3] The ratio of beta-hydroxybutryate to acetoacetate is usually higher in AKA (8:1) in contrast to diabetic ketoacidosis (3:1).[2]
## Management[edit]
Treatment includes administration of intravenous saline to rehydrate and 5% dextrose to turn off gluconeogenesis. Electrolyte imbalances, specifically hypokalaemia, should be corrected. Thiamine supplementation is often included to prevent Wernicke encephalopathy. Insulin is generally not used due to risk of hypoglycemia.[5] Other potential causes of the symptoms should be ruled out.[6]
## Prognosis[edit]
Outcomes are generally favorable with treatment but up to 10% may develop cardiac arrest.[5] It is proposed that alcoholic ketoacidosis is a significant cause of death among people with chronic alcoholism although the true prevalence is unknown. Estimation of prevalence and outcomes of this population is limited by difficulty in diagnosing the condition and the presence of multiple disorders at presentation.[6]
## History[edit]
In 1940, Edward S. Dillon, W. Wallace, and Leon S. Smelo, first described alcoholic ketoacidosis as a distinct syndrome. They stated that "because of the many and complex factors, both physiologic and pathologic, which influence the acid-base balance of the body, a multitude of processes may bring about the state of acidosis as an end result."[7]
In 1971, David W. Jenkins and colleagues described cases of three non‐diabetic people with a history of chronic heavy alcohol misuse and recurrent episodes of ketoacidosis. This group also proposed a possible underlying mechanism for this metabolic disturbance, naming it alcoholic ketoacidosis.[8]
## References[edit]
1. ^ a b c d e f McGuire, LC; Cruickshank, AM; Munro, PT (June 2006). "Alcoholic ketoacidosis". Emergency Medicine Journal. 23 (6): 417–20. doi:10.1136/emj.2004.017590. PMC 2564331. PMID 16714496.
2. ^ a b c d e f g h i j k l m n o p q r s t u v w Howard, RD; Bokhari, SRA (January 2019). Alcoholic Ketoacidosis (AKA). PMID 28613672.
3. ^ a b c d e Allison, MG; McCurdy, MT (May 2014). "Alcoholic metabolic emergencies". Emergency Medicine Clinics of North America. 32 (2): 293–301. doi:10.1016/j.emc.2013.12.002. PMID 24766933.
4. ^ Wrenn, KD; Slovis, CM; Minion, GE; Rutkowski, R (August 1991). "The syndrome of alcoholic ketoacidosis". The American Journal of Medicine. 91 (2): 119–28. doi:10.1016/0002-9343(91)90003-g. PMID 1867237.
5. ^ a b c Cartwright, Martina M.; Hajja, Waddah; Al-Khatib, Sofian; Hazeghazam, Maryam; Sreedhar, Dharmashree; Li, Rebecca Na; Wong-McKinstry, Edna; Carlson, Richard W. (Oct 2012). "Toxigenic and Metabolic Causes of Ketosis and Ketoacidotic Syndromes". Critical Care Clinics. 28 (4): 601–631. doi:10.1016/j.ccc.2012.07.001. PMID 22998993.
6. ^ a b c d e Höjer, Jonas (Oct 2017). "[Alcoholic ketoacidosis – a review]". Lakartidningen. 114. ISSN 1652-7518. PMID 28994854.
7. ^ Dillon, E.; Dyer, W. Wallace; Smelo, L. S. (November 1940). "Ketone Acidosis in Nondiabetic Adults". Medical Clinics of North America. 24 (6): 1813–1822. doi:10.1016/S0025-7125(16)36653-6.
8. ^ Jenkins, David W.; Eckel, Robert E.; Craig, James W. (12 July 1971). "Alcoholic Ketoacidosis". JAMA: The Journal of the American Medical Association. 217 (2): 177. doi:10.1001/jama.1971.03190020037007.
## External links[edit]
Classification
D
External resources
* eMedicine: med/102
* v
* t
* e
Psychoactive substance-related disorder
General
* SID
* Substance intoxication / Drug overdose
* Substance-induced psychosis
* Withdrawal:
* Craving
* Neonatal withdrawal
* Post-acute-withdrawal syndrome (PAWS)
* SUD
* Substance abuse / Substance-related disorders
* Physical dependence / Psychological dependence / Substance dependence
Combined
substance use
* SUD
* Polysubstance dependence
* SID
* Combined drug intoxication (CDI)
Alcohol
SID
Cardiovascular diseases
* Alcoholic cardiomyopathy
* Alcohol flush reaction (AFR)
Gastrointestinal diseases
* Alcoholic liver disease (ALD):
* Alcoholic hepatitis
* Auto-brewery syndrome (ABS)
Endocrine diseases
* Alcoholic ketoacidosis (AKA)
Nervous
system diseases
* Alcohol-related dementia (ARD)
* Alcohol intoxication
* Hangover
Neurological
disorders
* Alcoholic hallucinosis
* Alcoholic polyneuropathy
* Alcohol-related brain damage
* Alcohol withdrawal syndrome (AWS):
* Alcoholic hallucinosis
* Delirium tremens (DTs)
* Fetal alcohol spectrum disorder (FASD)
* Fetal alcohol syndrome (FAS)
* Korsakoff syndrome
* Positional alcohol nystagmus (PAN)
* Wernicke–Korsakoff syndrome (WKS, Korsakoff psychosis)
* Wernicke encephalopathy (WE)
Respiratory tract diseases
* Alcohol-induced respiratory reactions
* Alcoholic lung disease
SUD
* Alcoholism (alcohol use disorder (AUD))
* Binge drinking
Caffeine
* SID
* Caffeine-induced anxiety disorder
* Caffeine-induced sleep disorder
* Caffeinism
* SUD
* Caffeine dependence
Cannabis
* SID
* Cannabis arteritis
* Cannabinoid hyperemesis syndrome (CHS)
* SUD
* Amotivational syndrome
* Cannabis use disorder (CUD)
* Synthetic cannabinoid use disorder
Cocaine
* SID
* Cocaine intoxication
* Prenatal cocaine exposure (PCE)
* SUD
* Cocaine dependence
Hallucinogen
* SID
* Acute intoxication from hallucinogens (bad trip)
* Hallucinogen persisting perception disorder (HPPD)
Nicotine
* SID
* Nicotine poisoning
* Nicotine withdrawal
* SUD
* Nicotine dependence
Opioids
* SID
* Opioid overdose
* SUD
* Opioid use disorder (OUD)
Sedative /
hypnotic
* SID
* Kindling (sedative–hypnotic withdrawal)
* benzodiazepine: SID
* Benzodiazepine overdose
* Benzodiazepine withdrawal
* SUD
* Benzodiazepine use disorder (BUD)
* Benzodiazepine dependence
* barbiturate: SID
* Barbiturate overdose
* SUD
* Barbiturate dependence
Stimulants
* SID
* Stimulant psychosis
* amphetamine: SUD
* Amphetamine dependence
Volatile
solvent
* SID
* Sudden sniffing death syndrome (SSDS)
* Toluene toxicity
* SUD
* Inhalant abuse
*[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
|
Alcoholic ketoacidosis
|
c0268039
| 27,905 |
wikipedia
|
https://en.wikipedia.org/wiki/Alcoholic_ketoacidosis
| 2021-01-18T19:07:47 |
{"umls": ["C0268039"], "wikidata": ["Q47535995"]}
|
The autoimmune thyroid disorders, or AITDs, comprise 2 related disorders, Graves disease (275000) and Hashimoto thyroiditis (140300). See 608173.
Tomer et al. (2003) performed a whole-genome linkage study in an expanded data set of 102 multiplex families with AITD (540 individuals), using 400 microsatellite markers. Seven loci showed evidence for linkage to AITD (either Graves disease or Hashimoto thyroiditis or both). Three loci, on chromosomes 6p (AITD1; 608173), 8q (AITD3; 608175), and 10q (AITD4), showed evidence for linkage with both GD and HT (maximum multipoint heterogeneity lod scores (hlod) 2.0, 3.5, and 4.1, respectively). The maximum 2-point lod score at the 10q locus was 2.7 for marker D10S537 (93.3 cM) under the assumption of a recessive model at a penetrance of 30%. At a penetrance of 80% the lod score for D10S537 increased to 3.6. The results demonstrated that multiple genes may predispose to both Graves disease and Hashimoto thyroiditis and that some may be common to both diseases and some unique. The loci that continued to show evidence for linkage in the expanded data set represented serious candidate regions for gene identification.
*[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 THYROID DISEASE, SUSCEPTIBILITY TO, 4
|
c1842443
| 27,906 |
omim
|
https://www.omim.org/entry/608176
| 2019-09-22T16:08:12 |
{"omim": ["608176"], "synonyms": ["Alternative titles", "AITD4"]}
|
Radiation treatment of ONSM
Optic nerve sheath meningiomas (ONSM) are rare benign tumors of the optic nerve. 60–70% of cases occur in middle age females, and is more common in older adults (mean age 44.7 years). It is also seen in children, but this is rare. The tumors grow from cells that surround the optic nerve, and as the tumor grows, it compresses the optic nerve. This causes loss of vision in the affected eye.[1] Rarely, it may affect both eyes at the same time.[2]
It is typically a slow growing tumor, and has never been reported to cause death. However, there is concern that the tumor can grow into the brain and cause other types of neurological damage. In some patients, the tumor grows so slowly that treatment is not necessary. Standard treatments are observation, surgery, radiation therapy, and combinations of the above.[1]
## Contents
* 1 Symptoms
* 2 Natural history
* 3 Diagnosis
* 4 Treatment
* 5 Incidence
* 6 References
## Symptoms[edit]
MRI of a patient with ONSM
The most common symptom of ONSM is a gradual loss of vision in one eye. In a minority of patients this may be intermittent, at least to begin with. Less common symptoms include pain in the affected eye, protrusion of the eye, or double vision.[2]
## Natural history[edit]
ONSM does not improve without treatment. In many cases, there is gradual progression until vision is lost in the affected eye. However, this takes at least several months to occur, and a minority of patients remain stable for a number of years.[2][3][4]
## Diagnosis[edit]
Clinical examination will show an abnormal optic disc, either swollen or atrophic. Optociliary shunt vessels may be seen; the combination of these with progressive visual loss and optic disc atrophy is known as the Hoyt-Spencer triad. Visual acuity is usually but not always reduced.
When ONSM is suspected, MRI of the brain or orbits should be performed. This will usually show characteristic findings and confirm the diagnosis.[5]
## Treatment[edit]
Most ophthalmologists will not advocate any treatment unless visual loss is present and ongoing. Reports of patients with ONSM having no change in their vision for multiple years are not uncommon. If loss of vision occurs, radiation therapy will improve vision in about ⅓ of cases, and preserve vision in about ⅓ of cases. Surgery has traditionally been associated with rapid deteroriation of vision. However, newer surgical techniques may prove better for the treatment of ONSM.[4][6][7]
## Incidence[edit]
About 1–2% of all meningiomas are optic nerve sheath meningiomas. Meningiomas have an incidence of ~4.18/100,000 persons each year. Thus, ~10,000 meningiomas are diagnosed in the US each year; corresponding to ~100 cases of ONSM each year in the US. The actual number of meningiomas is likely much higher as it is very common in elderly women[citation needed]. ONSM comprises about 2% of orbital tumors, and about 10% of optic nerve lesions.[8]
Neurofibromatosis type II (NF-2) affects around 9% of ONSM patients, where the incidence in the general population is around 0.03–0.05%. Thus NF-2 is felt to be a risk factor for the development of ONSM.[1]
## References[edit]
1. ^ a b c Dutton JJ (1992). "Optic nerve sheath meningiomas". Surv Ophthalmol. 37 (3): 167–83. doi:10.1016/0039-6257(92)90135-G. PMID 1475751.
2. ^ a b c Saeed P; Rootman, J; Nugent, RA; White, VA; MacKenzie, IR; Koornneef, L (2003). "Optic nerve sheath meningiomas". Ophthalmology. 110 (10): 2019–30. doi:10.1016/S0161-6420(03)00787-5. PMID 14522782.
3. ^ Wright JE, Call NB, Liaricos S (1980). "Primary optic nerve meningioma". Br J Ophthalmol. 64 (8): 553–558. doi:10.1136/bjo.64.8.553. PMC 1043761. PMID 7426572.
4. ^ a b Turbin RE, Thompson CR, Kennerdell JS, Cockerham KP, Kupersmith MJ (May 2002). "A long-term visual outcome comparison in patients with optic nerve sheath meningioma managed with observation, surgery, radiotherapy, or surgery and radiotherapy". Ophthalmology. 109 (5): 890–9, discussion 899–900. doi:10.1016/S0161-6420(02)01017-5. PMID 11986093.
5. ^ Lindblom B, Truwit CL, Hoyt WF (April 1992). "Optic nerve sheath meningioma. Definition of intraorbital, intracanalicular, and intracranial components with magnetic resonance imaging". Ophthalmology. 99 (4): 560–6. doi:10.1016/s0161-6420(92)31932-3. PMID 1584575.
6. ^ Narayan S, Cornblath WT, Sandler HM, Elner V, Hayman JA (June 2003). "Preliminary visual outcomes after three-dimensional conformal radiation therapy for optic nerve sheath meningioma". Int. J. Radiat. Oncol. Biol. Phys. 56 (2): 537–43. doi:10.1016/S0360-3016(03)00005-1. PMID 12738331.
7. ^ Landert M, Baumert BG, Bosch MM, Lütolf UM, Landau K (June 2005). "The visual impact of fractionated stereotactic conformal radiotherapy on seven eyes with optic nerve sheath meningiomas". J Neuroophthalmol. 25 (2): 86–91. doi:10.1097/01.wno.0000165105.78365.22. PMID 15937428.
8. ^ Lindegaard J, Heegaard S, Prause JU (February 2002). "Histopathologically verified non-vascular optic nerve lesions in Denmark 1940-99". Acta Ophthalmol Scand. 80 (1): 32–7. doi:10.1034/j.1600-0420.2002.800107.x. PMID 11906301.
* v
* t
* e
Eye neoplasm
Melanoma
* Uveal melanoma
* Ciliary body melanoma
Other
* Medulloepithelioma/Diktyoma
* Intraocular lymphoma
* Orbital lymphoma
* Optic nerve sheath meningioma
* Optic nerve tumor
* Retinoblastoma
* Schwannoma
* Visual pathway glioma
*[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
|
Optic nerve sheath meningioma
|
c0346328
| 27,907 |
wikipedia
|
https://en.wikipedia.org/wiki/Optic_nerve_sheath_meningioma
| 2021-01-18T19:02:19 |
{"umls": ["C0346328"], "wikidata": ["Q7098799"]}
|
5-fluorouracil (5-FU) poisoning is a rare intoxication caused by the prolonged, low-dose administration of 5-FU, which is the mainstay of both adjuvant and advanced-disease chemotherapy regimens in colon cancer. 5-FU poisoning is characterized by gastrointestinal (nausea, emesis, diarrhea, anorexia, stomatitis) and hematologic (myelosuppression) toxicities as well as mucositis, alopecia and, occasionally, palmar-plantar dysesthesia (more commonly known as hand-foot syndrome). Women have been reported to experience more 5-FU-related toxicity than men.
*[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
|
5-fluorouracil poisoning
|
None
| 27,908 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=217064
| 2021-01-23T19:08:09 |
{"icd-10": ["T45.1"], "synonyms": ["5-fluorouracil intoxication"]}
|
Eczema vaccinatum
8 month old boy developed eczema vaccinatum after acquiring vaccinia from a sibling recently vaccinated for smallpox.
SpecialtyInfectious disease
Eczema vaccinatum is a rare severe adverse reaction to smallpox vaccination.
It is characterized by serious local or disseminated, umbilicated, vesicular, crusting skin rashes in the face, neck, chest, abdomen, upper limbs and hands, caused by widespread infection of the skin in people with previous diagnosed skin conditions such as eczema or atopic dermatitis, even if the conditions are not active at the time. Other signs and symptoms include fever and facial and supraglottic edema. The condition may be fatal if severe and left untreated. Survivors are likely to have some scarring (pockmarks).
Smallpox vaccine should not be given to patients with a history of eczema. Because of the danger of transmission of vaccinia, it also should not be given to people in close contact with anyone who has active eczema and who has not been vaccinated. People with other skin diseases (such as atopic dermatitis, burns, impetigo, or herpes zoster) also have an increased risk of contracting eczema vaccinatum and should not be vaccinated against smallpox.
Eczema is also associated with increased complications related to other vesiculating viruses such as chickenpox; this is called eczema herpeticum.
## Contents
* 1 Diagnosis
* 2 Treatment
* 3 Recent cases
* 4 See also
* 5 References
* 6 External links
## Diagnosis[edit]
A culture of vesicular fluid will grow vaccinia virus. Skin biopsy shows necrotic epidermal cells with intranuclear inclusions.
## Treatment[edit]
Eczema vaccinatum is a serious medical condition that requires immediate and intensive medical care. Therapy has been supportive, such as antibiotics, fluid replacement, antipyretics and analgesics, skin healing, etc.; vaccinia immune globulin (VIG) could be very useful but supplies may be deficient as of 2006. Antiviral drugs have been examined for activity in pox viruses and cidofovir is believed to display potential in this area.[1][2]
## Recent cases[edit]
In March 2007, a two-year-old Indiana boy and his mother contracted the life-threatening vaccinia infection from his father who was vaccinated against smallpox as part of the standard vaccination protocol for individuals serving in the US armed forces beginning in 2002. The child developed the pathognomonic rash which typifies eczema vaccinatum over 80 percent of his body surface area. The boy has a history of eczema, which is a known risk factor for vaccinia infection.[3]
## See also[edit]
* List of cutaneous conditions
## References[edit]
1. ^ CDC guidance
2. ^ WHO
3. ^ Schwartz, John (2007-05-18). "Soldier's Smallpox Inoculation Sickens Son". New York Times. Retrieved 2007-05-18.
## External links[edit]
Classification
D
* ICD-10: B03, T88.1, Y59.1
* ICD-9-CM: 050, 692.9, E949.0
* Side Effects of Smallpox Vaccination. Centers for Disease Control and Prevention Fact Sheet.
* Vaccine Reaction Images. CDC.
* Eczema vaccinatum. About.
* v
* t
* e
Skin infections, symptoms and signs related to viruses
DNA virus
Herpesviridae
Alpha
HSV
* Herpes simplex
* Herpetic whitlow
* Herpes gladiatorum
* Herpes simplex keratitis
* Herpetic sycosis
* Neonatal herpes simplex
* Herpes genitalis
* Herpes labialis
* Eczema herpeticum
* Herpetiform esophagitis
Herpes B virus
* B virus infection
VZV
* Chickenpox
* Herpes zoster
* Herpes zoster oticus
* Ophthalmic zoster
* Disseminated herpes zoster
* Zoster-associated pain
* Modified varicella-like syndrome
Beta
* Human herpesvirus 6/Roseolovirus
* Exanthema subitum
* Roseola vaccinia
* Cytomegalic inclusion disease
Gamma
* KSHV
* Kaposi's sarcoma
Poxviridae
Ortho
* Variola
* Smallpox
* Alastrim
* MoxV
* Monkeypox
* CPXV
* Cowpox
* VV
* Vaccinia
* Generalized vaccinia
* Eczema vaccinatum
* Progressive vaccinia
* Buffalopox
Para
* Farmyard pox: Milker's nodule
* Bovine papular stomatitis
* Pseudocowpox
* Orf
* Sealpox
Other
* Yatapoxvirus: Tanapox
* Yaba monkey tumor virus
* MCV
* Molluscum contagiosum
Papillomaviridae
HPV
* Wart/plantar wart
* Heck's disease
* Genital wart
* giant
* Laryngeal papillomatosis
* Butcher's wart
* Bowenoid papulosis
* Epidermodysplasia verruciformis
* Verruca plana
* Pigmented wart
* Verrucae palmares et plantares
* BPV
* Equine sarcoid
Parvoviridae
* Parvovirus B19
* Erythema infectiosum
* Reticulocytopenia
* Papular purpuric gloves and socks syndrome
Polyomaviridae
* Merkel cell polyomavirus
* Merkel cell carcinoma
RNA virus
Paramyxoviridae
* MeV
* Measles
Togaviridae
* Rubella virus
* Rubella
* Congenital rubella syndrome ("German measles" )
* Alphavirus infection
* Chikungunya fever
Picornaviridae
* CAV
* Hand, foot, and mouth disease
* Herpangina
* FMDV
* Foot-and-mouth disease
* Boston exanthem disease
Ungrouped
* Asymmetric periflexural exanthem of childhood
* Post-vaccination follicular eruption
* Lipschütz ulcer
* Eruptive pseudoangiomatosis
* Viral-associated trichodysplasia
* Gianotti–Crosti syndrome
* v
* t
* e
Adverse drug reactions
Antibiotics
* Penicillin drug reaction
* Sulfonamide hypersensitivity syndrome
* Urticarial erythema multiforme
* Adverse effects of fluoroquinolones
* Red man syndrome
* Jarisch–Herxheimer reaction
Hormones
* Steroid acne
* Steroid folliculitis
Chemotherapy
* Chemotherapy-induced acral erythema
* Chemotherapy-induced hyperpigmentation
* Scleroderma-like reaction to taxanes
* Hydroxyurea dermopathy
* Exudative hyponychial dermatitis
Anticoagulants
* Anticoagulant-induced skin necrosis
* Warfarin necrosis
* Vitamin K reaction
* Texier's disease
Immunologics
* Adverse reaction to biologic agents
* Leukotriene receptor antagonist-associated Churg–Strauss syndrome
* Methotrexate-induced papular eruption
* Adverse reaction to cytokines
Other drugs
* Anticonvulsant hypersensitivity syndrome
* Allopurinol hypersensitivity syndrome
* Vaccine adverse event
* Eczema vaccinatum
* Bromoderma
* Halogenoderma
* Iododerma
General
Skin and body membranes
* Acute generalized exanthematous pustulosis
* Bullous drug reaction
* Drug-induced acne
* Drug-induced angioedema
* Drug-related gingival hyperplasia
* Drug-induced lichenoid reaction
* Drug-induced lupus erythematosus
* Drug-induced nail changes
* Drug-induced pigmentation
* Drug-induced urticaria
* Stevens–Johnson syndrome
* Injection site reaction
* Linear IgA bullous dermatosis
* Toxic epidermal necrolysis
* HIV disease-related drug reaction
* Photosensitive drug reaction
Other
* Drug-induced pseudolymphoma
* Fixed drug reaction
* Serum sickness-like reaction
*[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
|
Eczema vaccinatum
|
c0936249
| 27,909 |
wikipedia
|
https://en.wikipedia.org/wiki/Eczema_vaccinatum
| 2021-01-18T19:01:54 |
{"mesh": ["D007617"], "icd-9": ["050", "692.9"], "icd-10": ["T88.1", "Y59.1", "B03"], "wikidata": ["Q5334450"]}
|
## Description
Primary bilateral pulmonary hypoplasia is defined as quantitative and/or qualitative underdevelopment of bronchial and pulmonary tissue unrelated to an underlying disorder (Langer and Kaufmann, 1986).
Clinical Features
Boylan et al. (1977) reported the first seemingly familial instance of bilateral pulmonary hypoplasia. Male and female infants who died shortly after birth were described. Both infants had associated malformations, including prominent epicanthic folds, mild micrognathia, and low set ears; one had cleft palate. An older sib had a partial defect of the right diaphragm and rudimentary right lung.
Frey et al. (1994) reported a family in which 3 infants, 2 with definite and 1 with possible isolated pulmonary hypoplasia, died in the neonatal period.
Podlech et al. (1995) reported a newborn female who died immediately after birth and was found to have agenesis/aplasia of both lungs with a rudimentary right bronchus and distal tracheal atresia. No other malformations were observed. A later pregnancy was terminated at 21 weeks' gestation after ultrasound showed agenesis of both lungs. Postmortem examination of the second affected child showed bilateral absence of both lungs and a 5-mm solid round formation at the hilar region in the right thoracic cavity, which was shown histologically to be a rudimentary bronchus. No lung veins leading to the left atrium were observed, and there were no aortic ostia of bronchial arteries. The trachea was atretic in its distal part. No other abnormalities or malformations were observed.
Fokstuen and Schinzel (2000) described unilateral right pulmonary agenesis in a brother and sister born of healthy nonconsanguineous parents. The first child had respiratory symptoms from the age of 11 months with recurrent infections and asthma. These became more severe at the age of 24 years and she died at the age of 42 years, secondary to cor pulmonale. Autopsy showed agenesis of the middle lobe, aplasia of the upper lobe, and hypoplasia of the lower lobe of the right lung with hypoplasia of the right pulmonary artery. The second child had respiratory symptoms from early life. He died at the age of 9 months after severe asthmatic decompensation. Autopsy showed agenesis of the right upper lobe with severe hypoplasia of the right pulmonary artery and dextrocardia. In addition, he had bilateral stenosis of the ureters with hydroureters and hydronephrosis, and a small accessory spleen. Both patients also had dextrocardia.
Szafranski et al. (2016) described a term female neonate who developed apnea and cyanosis within minutes after delivery. She had persistent cyanosis and hypoxemia despite continuous positive airway pressure (CPAP). Chest x-ray showed abnormal shapes of the lungs and heart. Echocardiogram showed poor contractility, and at least one pulmonary vein and the pulmonary arteries appeared small. Care was withdrawn on the first day of life. Autopsy, limited to the heart and lungs, showed a secundum atrial septal defect. Lungs showed disorganized distal lung parenchyma. There was branching of the proximal conducting airways and bronchovascular bundles but maldevelopment of the terminal bronchioles, respiratory bronchioles, and alveoli. There were reduced numbers of sac-like airspaces lined with cuboidal cells with capillaries deep to the lining cells comparable to the pseudoglandular stage of fetal lung development. The findings were most consistent with acinar dysplasia.
German et al. (2019) reported a neonate with severe respiratory failure, bilateral clenched fists, posteriorly rotated and low-set ears, widely spaced and underdeveloped nipples, broad halluces, hypoplastic toenails, and bilateral clinodactyly of the second toes. By rapid exome sequencing, he was found to have a 2-Mb deletion (chr17:59,290,909-61,353,248, GRCh37) involving 14 genes, including TBX4. A lung biopsy on day 8 of life showed marked arrest of lung maturation consistent with acinar dysplasia.
Suhrie et al. (2019) reported 2 unrelated patients who presented with severe neonatal lung disease. The first patient (infant A) was a term female who presented with cyanosis and difficulty breathing that did not improve with CPAP and 100% oxygen. She had low lung volumes and a small right pneumothorax. After decompression and ventilation, her oxygen saturations remained low. Birth growth parameters were notable for weight (25th percentile), length (5th percentile), and head circumference (less than the 3rd percentile). Despite treatment, including inhaled nitric oxide and 3 weeks of extracorporeal membrane oxygenation (ECMO), started at 52 hours of age, she suffered seizures, intracranial hemorrhage, and left middle cerebral artery infarction. She died shortly after removal from ECMO. Autopsy showed no evidence of limb anomalies associated with small patella syndrome. Lungs had 3 lobes bilaterally and features of congenital alveolar dysplasia thought to represent growth arrest in the late canalicular/early saccular phase of lung development. No normally developed alveoli were present. The second patient (infant B) was a small-for-gestational age term male (weight, 5th percentile; length, less than 1st percentile; head circumference, 4th percentile) who presented at birth in respiratory distress. He had no obvious dysmorphic features, but radiographs were not available to assess for small patella syndrome. Echocardiogram showed a large secundum atrial septal defect. He had nonapneic hypoxia and tachypnea. He was able to be discharged home on day 25 of life on 0.25 liter oxygen by nasal cannula. He was readmitted at age 3 months for failure to thrive and was found to have persistent tachypnea and retractions. He was also noted to have bilateral undescended testes. CT showed interstitial pneumonia and aberrant lobular architecture with abnormal alveolar growth. Right lung upper and middle lobe biopsies showed an alveolar growth abnormality characterized by variably enlarged and simplified alveoli with focal cystically dilated airspaces. After several episodes of cardiopulmonary arrest, he was placed on ECMO for 4 days with prolonged pulseless arrest at the time of cannulation. He was discharged from the hospital at age 8 months with a tracheostomy and gastrostomy tube.
Karolak et al. (2019) studied a cohort of 26 deceased patients who had clinically and histopathologically diagnosed interstitial neonatal lung disorders: acinar dysplasia in 14, congenital alveolar dysplasia in 2, and other lethal lung hypoplasias in 10. One of the patients (P025) was the patient described by Szafranski et al. (2016). Another patient (P022) was born at term by cesarean section and developed respiratory distress immediately. There was no improvement following intubation, and he developed tension pneumothorax and required bilateral intercostal chest drains. At 2 hours of life, he became asystolic and died. Autopsy revealed acinar dysplasia.
Inheritance
Pulmonary hypoplasia occurs commonly in association with congenital diaphragmatic hernia, oligohydramnios (mostly related to renal dysfunction), skeletal dysplasias, fetal hydrops, malformations of the central nervous system, and neuromuscular diseases. Primary isolated bilateral pulmonary hypoplasia is rare and familial occurrence exceptional (summary by Frey et al., 1994).
In a series of 9 cases with isolated pulmonary hypoplasia, Langer and Kaufmann (1986) described 2 pairs of affected identical twins. Fraser (1988) observed pulmonary hypoplasia in 2 sibs, and Hamel (1995) described a family with 2 affected male sibs.
Frey et al. (1994) reported a family with 2 proven and 1 suspected case of isolated pulmonary hypoplasia. The parents were healthy and apparently nonconsanguineous; however, the 4 grandparents stemmed from the same rural region in the central part of Switzerland. Frey et al. (1994) suggested autosomal recessive inheritance.
Diagnosis
Langer and Kaufmann (1986) stated that the radiologic diagnosis of primary pulmonary hypoplasia is possible if the following findings are seen: clear, small lungs in the early postpartum period, bilaterally elevated diaphragms, early development of pneumothoraces, after mechanical ventilation or spontaneously, and 'bell shaped' thoracic configuration. The diagnosis is confirmed by the following clinical and laboratory findings: tachypnea, cyanosis, nasal flaring, intercostal retractions as signs of respiratory distress; hypercapnia, hypoxia, and acidosis.
Molecular Genetics
### Associations Pending Confirmation
In a deceased child with severe lethal primary pulmonary hypoplasia and unilateral diaphragmatic defect (see, e.g., 142340 and 610187), Ackerman et al. (2005) identified a de novo heterozygous mutation in the ZFPM2 gene (603693.0003) on chromosome 8q23. Postmortem examination showed incomplete lung fissures bilaterally and a deep posterior left diaphragmatic eventration. The heart was grossly normal. Ackerman et al. (2005) suggested that mutations in the ZFPM2 gene may result in primary pulmonary and diaphragmatic defects.
Suhrie et al. (2019) reported 2 neonates with pulmonary hypoplasia. Infant A carried a de novo frameshift in the TBX4 gene (c.524_527del, Asn175ThrfsTer52) and a missense mutation in the ABCA3 gene (c.863G-A, R288K). Infant B had a 2.2-Mb deletion on chromosome 17q23.1-q23.2 (see 613355) that included the TBX4 gene and the identical ABCA3 variant. No functional studies were reported.
Karolak et al. (2019) studied a cohort of 26 deceased patients who had clinically and histopathologically diagnosed interstitial neonatal lung disorders: acinar dysplasia in 14 patients, congenital alveoloar dysplasia in 2, and other lethal lung hypoplasias in 10. The authors identified rare heterozygous copy number variants or deletions involving TBX4 (8 and 2, respectively) or FGF10 (602115) (2 and 2, respectively) in 16 (61%) of the 26 patients. Individuals with lung hypoplasia also harbored at least one noncoding single nucleotide variant (SNV) in the predicted lung-specific enhancer region. One patient (P025) was previously reported by Szafranski et al. (2016) to have a glu86-to-gln (E86Q; 601719.0005) variant in TBX4. Another infant (P022) carried a different change (E86K) at the same codon in TBX4.
Two sisters with isolated lung hypoplasia reported by Karolak et al. (2019) had a maternally inherited intragenic deletion of TBX4 and a paternally inherited missense mutation (D111Y) in TBX5 (601620). The authors argued that since TBX4 and TBX5 dimerize and are expressed in the developing lung that this is the cause of the pulmonary hypoplasia. Karolak et al. (2019) reported that they had identified a statistically significant enrichment of noncoding variants (either common or rare) in trans in subjects with acinar dysplasia, congenital alveolar dysplasia, or pulmonary hypoplasia and heterozygous SNVs or CNVs involving TBX4.
Karolak et al. (2019) also reported a family in which a mother and 2 daughters carried a deletion of 5p12 including the FGF10 gene. The mother and one daughter had LADD syndrome (149730). The other daughter (P040) had pulmonary hypoplasia and died at day 5 of age after intracranial hemorrhage on ECMO. She had a broad forehead but no other features of LADD syndrome. A second family had a father and daughter with LADD syndrome and another daughter (P076) who died at 5 days of age due to pulmonary hypoplasia. She also had dysplastic ears and hypoplastic toenails.
Pulmonary \- Bilateral pulmonary hypoplasia Misc \- Neonatal lethal Inheritance \- ? Autosomal recessive ▲ 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 HYPOPLASIA, PRIMARY
|
c0265780
| 27,910 |
omim
|
https://www.omim.org/entry/265430
| 2019-09-22T16:23:00 |
{"mesh": ["C562992"], "omim": ["265430"], "icd-10": ["Q33.3"], "orphanet": ["2257"], "synonyms": ["LUNG AGENESIS", "Alternative titles"]}
|
Melanocytic tumors are tumours developed from melanocytes.
## Types[edit]
* Melanocytic naevus
* Melanocytic tumors of uncertain malignant potential
* Melanoma
## References[edit]
This medical sign 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
|
Melanocytic tumor
|
c1302746
| 27,911 |
wikipedia
|
https://en.wikipedia.org/wiki/Melanocytic_tumor
| 2021-01-18T18:39:27 |
{"umls": ["C1302746"], "wikidata": ["Q3542024"]}
|
For a general description and a discussion of genetic heterogeneity of inflammatory bowel disease (IBD), including Crohn disease (CD) and ulcerative colitis (UC), see IBD1 (266600).
Mapping
Satsangi et al. (1996) performed a genomewide screen for susceptibility genes in inflammatory bowel disease involving 186 affected sib pairs from 160 nuclear families and found strong evidence for the presence of susceptibility loci for both Crohn disease and ulcerative colitis on chromosomes 12, obtaining the highest lod score (5.47) with marker D12S83.
In a study of 122 North American Caucasian families containing 208 genotyped IBD-affected relative pairs, Duerr et al. (1998) confirmed linkage to chromosome 12, using transmission/disequilibrium tests. They greatly narrowed the region of assignment of the IBD locus to the vicinity of D12S83.
Yang et al. (1999) evaluated the role of the chromosome 12 IBD locus in an independent set of US Caucasian families (36% being of Ashkenazi Jewish origin). Microsatellite markers along chromosome 12 spaced at approximately 10 cM intervals were used to test the putative loci in Crohn disease only families (65 sib pairs from 46 families); regions with positive linkage for Crohn were then tested in a panel of ulcerative colitis and mixed families (44 sib pairs from 29 families). They observed evidence of linkage between the region on chromosome 12 and Crohn disease, i.e., a significant excess of allele sharing in Crohn disease sib pairs. Using 12 markers spanning the IBD2 locus on chromosome 12, Parkes et al. (2000) genotyped 581 relative pairs with inflammatory bowel disease: 252 from Crohn disease-only families, 138 from ulcerative colitis-only families, and 191 from mixed families containing cases of both disorders. A multipoint lod score of 3.91 was detected for pairs from ulcerative colitis-only families, compared with 1.66 for Crohn disease-only and 1.29 for mixed families. The difference between the lod scores for ulcerative colitis and Crohn disease was significant in 2 different tests for heterogeneity. IBD2 thus appears to make a major contribution to ulcerative colitis susceptibility but to have only a minor effect with regard to Crohn disease, for which there may be substantially more locus heterogeneity.
In a large pooled data set involving 613 families, the IBD International Genetics Consortium (2001) could not corroborate the linkage of Crohn disease to chromosome 12. On the other hand, findings suggested a need to investigate further the potential role of the chromosome 12 locus in susceptibility to ulcerative colitis.
*[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
|
INFLAMMATORY BOWEL DISEASE 2
|
c1832321
| 27,912 |
omim
|
https://www.omim.org/entry/601458
| 2019-09-22T16:14:43 |
{"mesh": ["C563310"], "omim": ["601458"]}
|
Family of rare chronic and complex disorders that affect the lungs of children
childhood interstitial lung disease
Other namesChILD
SpecialtyPulmonology
Childhood interstitial lung disease, sometimes abbreviated as ChILD, is a family of rare chronic and complex disorders that affect the lungs of children.[1] In the lungs, these disorders affect the interstitium, which is the space around the alveoli. The alveoli are the air sacs of the lungs.
Not all types of interstitial lung disease that occur in adults occur also in children, and vice versa.[2][3] The group of disorders is heterogenous, and there are different definitions of what exactly should be classed as a chILD disorder.[1]
Childhood interstitial lung disease is a serious condition, with high morbidity and mortality.[4][2] People with chILD are at a higher risk of developing pulmonary hypertension, and development of pulmonary hypertension is associated with poor survival rates.[4]
## Contents
* 1 Classification
* 2 Diagnosis
* 3 Treatment
* 4 References
## Classification[edit]
Many conditions are included in this group of diseases. They have been categorized into three groups:[5]
* disorders of infancy, including lung problems caused by developmental disorders, growth abnormalities, and surfactant-related disorders;
* other categories that aren't specific to infancy, such as problems related to infections and immune disorders; and
* unclassifiable disorders
## Diagnosis[edit]
Obtaining images of sufficient quality is more difficult than in adults. Imaging may or may not be sufficient for diagnosis.[2]
Diagnostic methods include echocardiography, computed tomography, pulmonary function testing, bronchoscopy, genetic testing and biopsy.[3]
## Treatment[edit]
Although there is no cure for ChILD, common treatments include oxygen therapy, bronchodilators, extra nutrition, and corticosteroid medications. In severe ChILD cases, a lung transplant may prove effective. [6]
## References[edit]
1. ^ a b Hime, Neil J.; Zurynski, Yvonne; Fitzgerald, Dominic; Selvadurai, Hiran; Phu, Amy; Deverell, Marie; Elliott, Elizabeth J.; Jaffe, Adam (December 24, 2015). "Childhood interstitial lung disease: A systematic review". Pediatric Pulmonology. 50 (12): 1383–1392. doi:10.1002/ppul.23183. PMID 25931270.
2. ^ a b c Guillerman, R. Paul (March 24, 2010). "Imaging of Childhood Interstitial Lung Disease". Pediatric Allergy, Immunology, and Pulmonology. 23 (1): 43–68. doi:10.1089/ped.2010.0010. PMC 3269227. PMID 22332031.
3. ^ a b Kurland, G.; Deterding, R. R.; Hagood, J. S.; Young, L. R.; Brody, A. S.; Castile, R. G.; Dell, S.; Fan, L. L.; Hamvas, A.; Hilman, B. C.; Langston, C.; Nogee, L. M.; Redding, G. J.; American Thoracic Society Committee on Childhood Interstitial Lung Disease (chILD) the chILD Research Network (2013). "An official American Thoracic Society clinical practice guideline: classification, evaluation, and management of childhood interstitial lung diseas... - PubMed - NCBI". American Journal of Respiratory and Critical Care Medicine. 188 (3): 376–94. doi:10.1164/rccm.201305-0923ST. PMC 3778735. PMID 23905526.
4. ^ a b Bromley, Susan; Vizcaya, David (May 24, 2017). "Pulmonary hypertension in childhood interstitial lung disease: A systematic review of the literature". Pediatric Pulmonology. 52 (5): 689–698. doi:10.1002/ppul.23632. PMID 27774750.
5. ^ Cleveland, Robert H.; Lee, Edward Y. (2019-09-24). Imaging in Pediatric Pulmonology. Springer Nature. p. 145–148. ISBN 978-3-030-23979-4.
6. ^ "Childhood Interstitial Lung Disease". National Heart, Lung, and Blood Institute. Retrieved 30 November 2020.
* v
* t
* e
Diseases of the respiratory system
Upper RT
(including URTIs,
common cold)
Head
sinuses
Sinusitis
nose
Rhinitis
Vasomotor rhinitis
Atrophic rhinitis
Hay fever
Nasal polyp
Rhinorrhea
nasal septum
Nasal septum deviation
Nasal septum perforation
Nasal septal hematoma
tonsil
Tonsillitis
Adenoid hypertrophy
Peritonsillar abscess
Neck
pharynx
Pharyngitis
Strep throat
Laryngopharyngeal reflux (LPR)
Retropharyngeal abscess
larynx
Croup
Laryngomalacia
Laryngeal cyst
Laryngitis
Laryngopharyngeal reflux (LPR)
Laryngospasm
vocal cords
Laryngopharyngeal reflux (LPR)
Vocal fold nodule
Vocal fold paresis
Vocal cord dysfunction
epiglottis
Epiglottitis
trachea
Tracheitis
Laryngotracheal stenosis
Lower RT/lung disease
(including LRTIs)
Bronchial/
obstructive
acute
Acute bronchitis
chronic
COPD
Chronic bronchitis
Acute exacerbation of COPD)
Asthma (Status asthmaticus
Aspirin-induced
Exercise-induced
Bronchiectasis
Cystic fibrosis
unspecified
Bronchitis
Bronchiolitis
Bronchiolitis obliterans
Diffuse panbronchiolitis
Interstitial/
restrictive
(fibrosis)
External agents/
occupational
lung disease
Pneumoconiosis
Aluminosis
Asbestosis
Baritosis
Bauxite fibrosis
Berylliosis
Caplan's syndrome
Chalicosis
Coalworker's pneumoconiosis
Siderosis
Silicosis
Talcosis
Byssinosis
Hypersensitivity pneumonitis
Bagassosis
Bird fancier's lung
Farmer's lung
Lycoperdonosis
Other
* ARDS
* Combined pulmonary fibrosis and emphysema
* Pulmonary edema
* Löffler's syndrome/Eosinophilic pneumonia
* Respiratory hypersensitivity
* Allergic bronchopulmonary aspergillosis
* Hamman-Rich syndrome
* Idiopathic pulmonary fibrosis
* Sarcoidosis
* Vaping-associated pulmonary injury
Obstructive / Restrictive
Pneumonia/
pneumonitis
By pathogen
* Viral
* Bacterial
* Pneumococcal
* Klebsiella
* Atypical bacterial
* Mycoplasma
* Legionnaires' disease
* Chlamydiae
* Fungal
* Pneumocystis
* Parasitic
* noninfectious
* Chemical/Mendelson's syndrome
* Aspiration/Lipid
By vector/route
* Community-acquired
* Healthcare-associated
* Hospital-acquired
By distribution
* Broncho-
* Lobar
IIP
* UIP
* DIP
* BOOP-COP
* NSIP
* RB
Other
* Atelectasis
* circulatory
* Pulmonary hypertension
* Pulmonary embolism
* Lung abscess
Pleural cavity/
mediastinum
Pleural disease
* Pleuritis/pleurisy
* Pneumothorax/Hemopneumothorax
Pleural effusion
Hemothorax
Hydrothorax
Chylothorax
Empyema/pyothorax
Malignant
Fibrothorax
Mediastinal disease
* Mediastinitis
* Mediastinal emphysema
Other/general
* Respiratory failure
* Influenza
* Common cold
* SARS
* Coronavirus disease 2019
* Idiopathic pulmonary haemosiderosis
* Pulmonary alveolar proteinosis
*[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
|
Childhood interstitial lung disease
|
c3161253
| 27,913 |
wikipedia
|
https://en.wikipedia.org/wiki/Childhood_interstitial_lung_disease
| 2021-01-18T19:02:40 |
{"umls": ["C3161253"], "icd-9": ["516.6"], "wikidata": ["Q85850337"]}
|
Hepatic lipase deficiency is a rare condition that is characterized by increased levels of certain fats (known as triglycerides and cholesterol) in the blood. Affected people may also have increased levels of high-density lipoproteins (HDLs) and decreased levels of low-density lipoproteins (LDLs), which are two molecules that help transport fats throughout the body. Hepatic lipase deficiency may be associated with an increased risk of developing atherosclerosis and/or heart disease; however, additional research is needed on the long-term outlook of people with this condition. Hepatic lipase deficiency is caused by changes (mutations) in the LIPC gene and is inherited in an autosomal recessive manner. 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
|
Hepatic lipase deficiency
|
c3151466
| 27,914 |
gard
|
https://rarediseases.info.nih.gov/diseases/12864/hepatic-lipase-deficiency
| 2021-01-18T18:00:05 |
{"omim": ["614025"], "orphanet": ["140905"], "synonyms": ["Hyperlipidemia due to hepatic lipase deficiency", "Hyperlipidemia due to hepatic triglyceride lipase deficiency", "Hyperlipidemia due to HTGL deficiency", "Hyperlipidemia due to hepatic triacylglycerol lipase deficiency", "LIPC Deficiency", "Hyperlipidemia due to HL deficiency"]}
|
anxiety disorder or phobia characterized by fear of bridges
Gephyrophobia
The old Tappan Zee Bridge (demolished in 2019 and replaced with a newer bridge) offered a service to help those with gephyrophobia cross the bridge without hesitation.
SpecialtyPsychology, Psychiatry, and Neurology
Gephyrophobia is the anxiety disorder or specific phobia characterized by the fear of bridges and tunnels. As a result, sufferers of gephyrophobia may avoid routes that will take them over bridges, or if they are a passenger, will act very apprehensively when passing over a bridge.[1][2][3] The term gephyrophobia comes from the Greek γέφυρα (gephura), meaning "bridge",[4] and φόβος (phobos), meaning "fear".[5]
Some possible manifestations of gephyrophobia may be fear of driving off the bridge, fear of a gust of wind blowing one off the bridge, or fear that the bridge will collapse when crossing it (e.g., fear that the bridge lacks structural integrity). The fear overlaps with acrophobia (the fear of heights) as gephyrophobia tends to be exacerbated in taller bridges as compared to those closer to the water or ground beneath.
Dr. Michael Liebowitz, founder of the Anxiety Disorders Clinic at the New York State Psychiatric Institute, says, "It's not an isolated phobia, but usually part of a larger constellation ... It's people who get panic attacks. You get light-headed, dizzy; your heart races. You become afraid that you'll feel trapped."[1] It is a situational phobia.[6]
As of 2008, the New York State Thruway Authority would lead gephyrophobiacs over the Tappan Zee Bridge. A driver could call the authority in advance and arrange for someone to drive their car over the bridge for them. The authority performed the service about six times a year.[1]
The Maryland Transportation Authority previously offered a similar service for crossing the Chesapeake Bay Bridge, but that role is now filled by private companies.[7]
The Mackinac Bridge Authority, which oversees the Mackinac Bridge connecting Michigan's Upper and Lower peninsulas, will drive needy gephyrophobiacs' cars across the bridge for free. Some one thousand drivers take advantage of this program annually.[8] Leslie Ann Pluhar had her Yugo blown off the bridge in 1989.[9] Later investigation concluded she had stopped her car over the open steel grating on the bridge's span and that a gust of wind blowing through the grating pushed her vehicle off the bridge,[10] but this assertion is not supported by recorded wind speed measurements taken on and around the bridge at the time of the accident.[11][12]
## In media[edit]
Gephyrophobia is the main plot in "The Bridge" episode of The Middle. The character Brick is plagued by the phobia.
In 1965's A Charlie Brown Christmas, Lucy references gephyrophobia (albeit with a slight mispronunciation)[13] when attempting to diagnose Charlie Brown's problems at her psychiatric help stand.
The term is referenced in the 2012 book The Silver Bridge Disaster of 1967, an account of the December 15, 1967, collapse of the Silver Bridge across the Ohio River, connecting Point Pleasant, West Virginia, and Gallipolis, Ohio.
Gephyrophobia is referenced in "The Car" episode of the second season of This Is Us.
In Halo: Combat Evolved for the PC and Xbox One there is a multiplayer map called Gephyrophobia, in which the main battlefield is a large bridge connecting two Forerunner structures in a Halo.[14]
## See also[edit]
* Galloping Gertie
* List of bridge disasters
* List of structural failures and collapses
* List of phobias
## References[edit]
1. ^ a b c Foderaro, Lisa W. (January 8, 2008). "To Gephyrophobiacs, Bridges Are a Terror". New York Times. Retrieved 2008-01-08. "Mrs. Steers, 47, suffered from a little-known disorder called gephyrophobia, a fear of bridges. And she had the misfortune of living in a region with 26 major bridges, whose heights and spans could turn an afternoon car ride into a rolling trip through a haunted house."
2. ^ "Gephyrophobia: A Fear Of Crossing Bridges. Even Before The Minnesota Collapse, Many Have Severe Phobia About Bridges". CBS News. August 10, 2007. Retrieved 2008-01-08. "The monster she fears is the Chesapeake Bay Bridge in Maryland. At four miles (6 km) long and 185 feet (56 m) high, Ayers says the thought of driving the bridge — with the way it rises straight in the air — raises a sense of panic in her."
3. ^ "Reasonable fear or bridge phobia?". USA Today. August 8, 2007. Retrieved 2008-01-08. "Jerilyn Ross, a psychotherapist and president of the Anxiety Disorder Association of America, notes that phobias are more than just being afraid of a certain object; they are marked by panic. Someone with gephyrophobia is afraid of panicking on a bridge, not necessarily the bridge itself, she says."
4. ^ γέφυρα, Henry George Liddell, Robert Scott, A Greek-English Lexicon, on Perseus
5. ^ φόβος, Henry George Liddell, Robert Scott, A Greek-English Lexicon, on Perseus
6. ^ Bragazzi1, Nicola Luigi; Del Puente, Giovanni (May 16, 2014). "A proposal for including nomophobia in the new DSM-V". Psychology Research and Behavior Management. Dove Medical Press. 7: 155–160. doi:10.2147/PRBM.S41386. PMC 4036142. PMID 24876797.
7. ^ Miller, By Susan. "Don't look down: How I crossed the Bay Bridge". USA TODAY. Retrieved October 17, 2020.
8. ^ Tom Carr, Record-Eagle Archived 2013-02-16 at Archive.today
9. ^ Zacharias, Pat (June 6, 2000). "The Breathtaking Mackinac Bridge". The Detroit News. Archived from the original on January 21, 2013. Retrieved September 11, 2010.
10. ^ Propson, David (October 14, 2004). "How to Build a Better Bridge". New York Sun. Retrieved October 26, 2007.
11. ^ McGraw, Bill (July 8, 2007). "Mackinac Bridge Q&A". Detroit Free Press. Retrieved January 3, 2014.
12. ^ "Accident Report Claims Ms. Pluhar Was Speeding". The Argus-Press. Owosso, MI. Associated Press. November 8, 1989. p. 20. Retrieved January 3, 2014.
13. ^ "It's Not Just You, Charlie Brown : Gephyrophobia". www.merriam-webster.com. Retrieved 2019-12-06.
14. ^ Gephyrophobia_(Level) on Halopedia: The Halo Wiki
This abnormal psychology–related 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
|
Gephyrophobia
|
c1398281
| 27,915 |
wikipedia
|
https://en.wikipedia.org/wiki/Gephyrophobia
| 2021-01-18T18:57:07 |
{"wikidata": ["Q2995241"]}
|
Juvenile dermatomyositis has some similarities to adult dermatomyositis and polymyositis. It typically affects children ages 2 to 15 years, with symptoms that include weakness of the muscles close to the trunk of the body, inflammation, edema, muscle pain, fatigue, skin rashes, abdominal pain, fever, and contractures. Children with juvenile dermatomyositis may have difficulty swallowing and breathing, and the heart may also be affected. About 20 to 30 percent of children with juvenile dermatomyositis develop calcium deposits in the soft tissue. Affected children may not show higher than normal levels of the muscle enzyme creatine kinase in their blood but have higher than normal levels of other muscle enzymes. Treatment is aimed at addressing the individual symptoms of each patient. This may involve a combination of medications, physical therapy and supplements.
*[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
|
Juvenile dermatomyositis
|
c0263666
| 27,916 |
gard
|
https://rarediseases.info.nih.gov/diseases/6805/juvenile-dermatomyositis
| 2021-01-18T17:59:40 |
{"mesh": ["D003882"], "orphanet": ["93672"], "synonyms": ["Juvenile DM"]}
|
Closely related to, but not to be confused with Paraganglioma
Type of neuroendocrine tumor
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Pheochromocytoma
Other namesPhaeochromocytoma, adrenal medullary tumor, Chromaffin Cell Tumors, Paraganglioma
Normal remnant adrenal gland (left) with a pheochromocytomaC (right) involving the adrenal medulla
Pronunciation
* fee-oh-kroh-moh-sahy-toh-muh
SpecialtyEndocrinology, oncology
SymptomsHypertension, tachycardia, sweating, headache, pallor
ComplicationsHypertensive crisis
Diagnostic methodElevated plasma free metanephrines, plasma catecholamines, or urinary catecholamines
TreatmentSurgery, chemotherapy, radiation, and pharmacologic agents
Frequency0.8 per 100,000 person-years [1]
Pheochromocytoma (PHEO or PCC) is a rare tumor of the adrenal medulla composed of chromaffin cells, also known as pheochromocytes.[2] When a tumor composed of the same cells as a pheochromocytoma develops outside the adrenal gland, it is referred to as a paraganglioma.[3] These neuroendocrine tumors are capable of producing and releasing massive amounts of catecholamines, metanephrines, or methoxytyramine, which result in the most common symptoms, including hypertension (high blood pressure), tachycardia (fast heart rate), and diaphoresis (sweating).[4] However, not all of these tumors will secrete catecholamines. Those that do not are referred to as biochemically silent, and are predominantly located in the head and neck.[5] While patients with biochemically silent disease will not suffer from the typical disease manifestations described above, the tumors grow and compress the surrounding structures of the head and neck, and can result in pulsatile tinnitus (ringing of the ear), hearing loss, aural fullness, dyspnea (difficulty breathing), and hoarseness.[6] While tumors of the head and neck are parasympathetic, their sympathetic counterparts are predominantly located in the abdomen and pelvis, particularly concentrated at the organ of Zuckerkandl.[7]
## Contents
* 1 Signs and symptoms
* 1.1 Complications
* 1.1.1 Cardiovascular system
* 1.1.2 Nervous system
* 1.1.3 Urinary system
* 2 Genetics
* 2.1 Pediatric considerations
* 2.2 Hereditary syndromes
* 2.3 Other gene variants
* 3 Diagnosis
* 3.1 Differential
* 3.1.1 Notes
* 3.2 Biochemical evaluation
* 3.2.1 Gold standard
* 3.2.2 Alternative tests
* 3.2.3 Biochemical phenotypes
* 3.3 Tumor localization
* 3.3.1 Anatomic imaging
* 3.3.2 Functional imaging
* 4 Management
* 4.1 Surgery
* 4.1.1 Pre-operative management
* 4.1.1.1 Alpha blockade
* 4.1.1.2 Beta blockade
* 4.1.1.3 Complications
* 4.1.1.4 Controversy
* 4.1.2 Perioperative fluid status
* 4.1.3 Post-operative management
* 5 Metastatic disease
* 5.1 Diagnosis and location
* 5.2 Treatment
* 6 Prognosis
* 7 Epidemiology
* 8 History
* 9 Society and culture
* 9.1 Zebra culture
* 9.2 Media
* 10 References
* 11 External links
## Signs and symptoms[edit]
The signs and symptoms of a pheochromocytoma are those related to sympathetic nervous system hyperactivity.[8] The classic triad includes headaches (likely related to elevated blood pressure, or hypertension), tachycardia/elevated heart rate, and diaphoresis (excessive sweating, particularly at night). However, patients are unlikely to experience continuous symptoms. Due to the paroxysmal nature of catecholamine synthesis and release, patients may experience "attacks" or "spells" where they are suddenly overwhelmed with signs and symptoms of their tumor.[9] Attacks can occur spontaneously (without warning) or may be triggered by a variety of pharmaceutical agents, foods, intraoperative tumor manipulation, intubation, or during anesthetic induction.[10]
Adrenal gland; the medulla (center, red) is the origin of the adrenal gland
Lifestyle, Medication, and Diet-Induced Catecholamine Surges [10][11] Lifestyle Medications Diet
Physical Exertion Histamine Cheese
Anxiety/Stress Metoclopramide Fermented wine/beer
Trauma/Pain Glucagon Tomatoes
Micturition ACTH Coffee/Beans
There are two adrenal glands, highlighted in yellow, on top of each of the kidneys
While the above symptoms are classic, other common clinical manifestations have been reported and include (in no particular order)[4][10]
* Pallor
* Heat intolerance
* Weight loss
* Chest and/or Abdominal Discomfort
* Nausea/Vomiting
* Constipation
* Orthostatic Hypotension
* Medically defined as a decrease in systolic blood pressure (top number) of 20 mm Hg or diastolic blood pressure (bottom number) of 10 mm Hg after a change in position from lying down or sitting to a standing position[12]
* Feeling of becoming light-headed or dizzy after swiftly changing positions
* Psychological Manifestations
* Anxiety, Panic Attacks, Nervousness, Tremulousness
* Hyperglycemia (high blood sugar)
### Complications[edit]
While the symptoms of a pheochromocytoma are quite common, the disease has been referred to as "the great mimic".[13] Literature reports that just 0.1% of patients with hypertension are diagnosed with this rare endocrine disorder and symptomatic patients are often mistaken for much more common diseases.[14] As symptoms are often paroxysmal (episodic/sporadic), patients may not immediately seek treatment as the problem "disappears on its own." Furthermore, when pictured in the ideal clinical scenario (an older woman in her mid-50s), the spontaneous attacks of flushing, sweating, and a racing heart may be mistaken for pre-menopausal related hot-flashes. Unmanaged pheochromocytoma is dangerous and can lead to serious complications, including death.[15][non-primary source needed] The cardiovascular system is the most commonly involved.[16][17][18]
#### Cardiovascular system[edit]
1. Hypertensive crisis: Pheochromocytoma-related hypertensive emergencies are one of the most feared clinical manifestations. Attacks are random and may occur secondary to a trigger (see Signs and Symptoms above) or spontaneously after a catecholamine surge.[17] The prevailing symptom is elevated systolic blood pressure (> 200 mmHg) that is unresponsive to traditional treatment regimens and threatens end-organ damage.[16] Patients require immediate, life-saving treatment to prevent further damage to other organs and/or death.
2. Myocardial Ischemia/Infarction: A heart attack is often caused by a significant build-up of plaque (atherosclerosis) in the coronary vessels. Patients with pheochromocytoma present with myocardial infarctions despite an overall lack of plaque build-up, indicating a different mechanism for the myocardial infarction. Current research hypothesizes that the tumor secretes massive amounts of catecholamines, which directly interact with myocardial (heart) tissue and exert negative effects including oxygen deprivation, leading to accelerated scarring and cell death.[16]
3. Toxic Myocarditis: Even in patients without myocardial damage, excessive catecholamines can result in abnormal ST changes on an ECG. Norepinephrine (a catecholamine) is hypothesized to resulted in damaged cardiac tissue by inhibiting coronary blood flow and depriving cells of oxygen, thus resulting in ischemic tissue.[18] Fortunately, following tumor excision and the subsequent quelling of catecholamines, the damage has been proven reversible.
4. Cardiomyopathy: Pheochromocytoma's have been implicated in various types of cardiomyopathy, including (myocarditis, see above), dilated cardiomyopathy, and stress-induced or Takotsubo cardiomyopathy.[19] As with the other cardiovascular-related complications, excess catecholamines are responsible for the increased myocardial burden and significant physiologic stress.[20][non-primary source needed] Current literature indicates that most of the catecholamine-induced damage is reversible, thereby strengthening the argument for early and accurate diagnosis in order to allow for cardiac remodeling and prevent further destruction.[19][20]
5. Arrhythmias: Sinus tachycardia is the most common abnormal heart rhythm associated with a pheochromocytoma and is experienced by patients as the feeling of a "fluttering heart" or palpitations.[16] Many other tachyarrhythmias (fast heart rate) have also been reported.
#### Nervous system[edit]
1. Cerebrovascular Accident (Stroke): Multiple reports have detailed transient ischemic attacks or strokes in patients with a pheochromocytoma.[21][non-primary source needed][22][23][24][25][26][27][non-primary source needed] In a study of 130 patients with pheochromocytoma, 7 patients were diagnosed with a transient ischemic attack (the neurologic deficit completely resolved) and 3 patients experienced a stroke with persistent symptoms.[28]
2. Headache: Headaches are one of the core clinical manifestations of a pheochromocytoma and can result in debilitating pain. The majority of studied patients report their pain began and ended abruptly without warning and described the pain as a severe, bilateral throbbing (although the scale of severity was not published). While 71% of the studied patients reported headaches, just over 20% of the affected patients endorsed associated nausea, vomiting, photophobia, or phonophobia, which are typically associated with migraines.[29][non-primary source needed]
#### Urinary system[edit]
1. Acute Renal Failure: Several reports have detailed rhabdomyolysis (rapid skeletal muscle breakdown) leading to acute kidney injury and the need for transient dialysis in the undiagnosed pheochromocytoma patient as their primary presenting symptom.[30][31][32][33][non-primary source needed] Kidney failure is brought about by catecholamine-induced muscle injury. Norepinephrine causes vessels to narrow, thereby limiting blood flow and inducing ischemia.[30]
Multiple organ dysfunction syndrome (MODS)[34]: Caused by an elevated inflammatory response, multiple organ dysfunction is a severe, life-threatening emergency with increasing mortality based on the number of systems involved.[35] Pheochromocytoma-related MODS is associated with multiple organ failure, hyperthermia > 40 degrees Celsius, neurologic manifestations, and cardiovascular instability resulting in either hypo or hypertension.[36] In contrast to a hypertensive crisis, pheochromocytoma-associated MODS may not respond to traditional alpha-receptor agents and may require emergent surgical excision if clinical stability is not achieved.[non-primary source needed]
## Genetics[edit]
Current estimates predict that upwards of 40% of all pheochromocytomas are related to an inherited germline susceptibility mutation.[37] Of the remaining 60% of tumors, more than 30% are associated with a somatic mutation.[38] Given the high association with genetic inheritance, the United States Endocrine Society recommends that all patients diagnosed with a pheochromocytoma undergo an evaluation with a genetic counselor to consider genetic testing.[39] The most recent data indicates that there are 25 pheochromocytoma susceptibility genes; however, just 12 are recognized as part of a well-known syndrome.[7] Determining the genetic status of a pheochromocytoma patient is crucial – each gene is inherited in a different pattern, associated with specific disease characteristics, and may respond more favorably to certain treatment options. Furthermore, early identification can guide physicians on screening recommendations for first degree relatives of patients with pheochromocytoma.[40] There is no current consensus for how and when asymptomatic carriers (individual who has a genetic variant associated with pheochromocytoma, but no current evidence of disease) should be evaluated. Conversations should occur at an individual level with the patient and their provider to develop a personalized screening plan that alternates between a biochemical (blood work) evaluation and whole-body imaging to monitor disease progression.[41][non-primary source needed]
### Pediatric considerations[edit]
Additional practices may help maintain the emotional and psychological well-being of the minor. Screening includes a multidisciplinary team (endocrinologist, oncologist, psychologist, geneticist, parent, and child) where the primary focus is supporting the child.[42]
* A positive result from testing during family-observed days of celebration may mask the happiness associated with these events in the future.
* Testing one pediatric sibling at a time allows the family to narrow their focus when results are returned and support each sibling individually.
* A negative result may be upsetting to a child if their sibling was positive; an opportunity to ask questions and process results may be helpful.
### Hereditary syndromes[edit]
The following table(s) detail the clinical characteristics of the well-known hereditary pheochromocytoma gene variants[43][44][45][40][38][37][46]
Classic Pheochromocytoma Tumor Syndromes Gene Inheritance Penetrance Metastatic Potential 1o Disease Characteristics
MEN2 RET Autosomal Dominant 40–50% <5% Medullary thyroid carcinoma, hyperparathyroidism, marfanoid habitus, pheochromocytoma
VHL VHL 10-30% 5% Renal cell carcinoma, pancreatic NET, retinal and CNS hemangioblastoma, pheochromocytoma
NF1 NF1 1–5% 12% Neurofibromas, cafe-au-lait macules, lisch nodules, cognitive impairment, pheochromocytoma
MEN2 (Multiple Endocrine Neoplasia-2); VHL (von-Hippel Lindau); NF1 (Neurofibromatosis-1); NET (Neuroendocrine Tumor); CNS (Central Nervous System)
Hereditary Paraganglioma Syndromes (SDHx) Gene Inheritance Penetrance Metastatic Potential 1o Disease Characteristics
PGL1 SDHD Autosomal Dominant
Paternal Inheritance
90% <5% Head and neck paraganglioma, pheochromocytoma, gastrointestinal stromal tumor
PGL2 SDHAF2 100% Low Head and neck paraganglioma
PGL3 SDHC Autosomal Dominant Inconsistent Inconsistent Pheochromocytoma, head and neck paraganglioma, gastrointestinal stromal tumor
PGL4 SDHB 30–50% 30–70% Head and neck paraganglioma, pheochromocytoma, gastrointestinal stromal tumor
PGL5 SDHA 10–15% Low Pheochromocytoma, head and neck paraganglioma, gastrointestinal stromal tumor
SDHx (Succinate Dehydrogenase Subunit x)
Other Pheochromocytoma Gene Mutations Inheritance Penetrance Metastatic Potential 1o Disease Characteristics
MAX Autosomal Dominant Inconsistent <5% Bilateral pheochromocytoma
TMEM127 Inconsistent Low Pheochromocytoma, head and neck paraganglioma
MAX (MYC Associated Factor X); TMEM127 (Transmembrane Protein 127)
### Other gene variants[edit]
There have been several published case reports of other, rare pheochromocytoma-associated susceptibility genes:
1. Pacak-Zhuang Syndrome[47][48][49][50][51]
* Hypoxia-inducible factor 2 alpha (HIF2A)
* Polycythemia
* Duodenal somatostatinoma
* Retinal and choroidal vascular changes
* Paraganglioma/Pheochromocytoma
2. Pheochromocytoma and Giant Cell Tumor of Bone[52]
* H3 histone, family 3A (H3F3A), post-zygotic G34W
* Pheochromocytoma/Paraganglioma
3. Carney Triad[53]
* Gastrointestinal stromal tumor
* Pulmonary chondroma
* Paraganglioma
4. Carney-Stratakis Syndrome[54]
* Gastrointestinal stromal tumor
* Paraganglioma
Several additional gene variants have been described, but the provided information is inconsistent and a consensus has not been reached in the community if these mutations are truly pheochromocytoma susceptibility genes.
## Diagnosis[edit]
### Differential[edit]
If a patient has the characteristic signs and symptoms of a pheochromocytoma and the decision is made to pursue additional biochemical (blood work) evaluation, the differential diagnosis is important as it is more likely to be something other than a pheochromocytoma given the relative frequency of 0.8 per 100,000 person-years.[1]
Differential Diagnosis of Pheochromocytoma by System[a] Endocrine Cardiovascular Neurologic Psychiatric Other
Hyperthyroidism Heart Failure Migraine Anxiety Porphyria
Carcinoid Syndrome Arrhythmias Stroke Panic Disorder Medications[b]
Hypoglycemia Ischemic Heart Disease Epilepsy Substance Use[c]
Menopausal Syndrome Baroreflex Failure Meningioma Factious Disorder[d]
Medullary Thyroid Carcinoma – POTS –
#### Notes[edit]
1. ^ Adopted from Lenders et al., Phaeochromocytoma. The Lancet. 366(9486); 665–675.[2]
2. ^ Monoamine Oxidase Inhibitors, Clonidine Withdrawal
3. ^ Including but not limited to cocaine use
4. ^ Misuse of over-the-counter medications such as pseudoephedrine hat are sympathomimetics
### Biochemical evaluation[edit]
#### Gold standard[edit]
Elevated plasma free metanephrines is considered the gold standard diagnosis for pheochromocytoma.[55] Over 10 studies have confirmed that the sensitivity and specificity of this test is 97% and 93% respectively; however, there is still concern for false positive results in the correct clinical scenario.[4] When interpreting a biochemical analysis for pheochromocytoma, the provider must pay close attention to the (1) conditions of the collection, (2) all medications the patient is taking, and (3) their diet.[56]
1. Conditions of Collection: Unlike many routine laboratory tests that can be drawn at a moments notice, there are several recommendations that should be followed to ensure the ideal conditions and an accurate sample. Current research indicates that blood work should only be drawn after a patient has been resting supine (flat on their back) for 30 minutes before collection.[non-primary source needed][57][58] Specific supine reference values should be used in this scenario. Ensuring these conditions is difficult and may be cost-prohibitive at most institutions. In these cases, a rested, supine draw can be repeated following a positive result in a seated position to eliminate false-positive results.[56]
2. Pharmaceutical Interference: Many prescription, over-the-counter, and illicit substances can interfere with the proper collection of plasma metanephrines and lead to false-positive results. Providers should review a patient's medication list in-detail and have a discussion if temporarily discontinuing any of the interfering medications is possible. The most reported medications to result in falsely elevated metanephrines include: β-adrenoceptor blockers, phenoxybenzamine, tricyclic antidepressants, monoamine oxidase inhibitors, serotonin norepinephrine reuptake inhibitors (SNRI), and methyldopa.[59][non-primary source needed][56] As the majority of these medications are commonly prescribed for psychiatric conditions, a conversation with the prescriber may be necessary fo facilitate alternative therapeutic options while the patient is undergoing evaluation for a pheochromocytoma.[59] After any possible prescription medications have been held, it is important to review any over-the-counter medications/supplements as well as the commonly used acetaminophen and pseudoephedrine cause false elevations in metanephrine levels.[56][59] Finally, it is important to have open, non-judgemental discussions about the patient's recreational substance use. Amphetamines, nicotine, and cocaine can result in marked plasma norepinephrine levels.
3. Lifestyle and Diet: As with most lab work, the patient should refrain from eating (fasting) after midnight the night prior to their collection. However, there are further recommendations specific to a metanephrines collection, including abstaining from nicotine, alcohol, and exercise for at least 12 hours prior to their lab draw.[7] Patient's should also avoid catecholamine-containing foods (fruits, fruit drinks, chocolate, caffeine, tomatoes, beans, nuts, and potatoes) for a minimum of 24 hours prior to collection.[non-primary source needed][60][61]
While the above (3) conditions are likely to contribute to false-positive results if not controlled for, any value greater than 3 to 4 times the upper reference limit of normal should be considered diagnostic for a pheochromocytoma.[39][62]
#### Alternative tests[edit]
Twenty-four hour urinary metanephrines are an acceptable alternative if the plasma test is unavailable.[63] Other additional biomarkers can be helpful to aid in the diagnosis of pheochromocytoma as well, most notable is Chromogranin A. In comparison to the specificity of elevated catecholamines in the pheochromocytoma patient, chromogranin A is a non-specific polypeptide that is high in a variety of neuroendocrine tumors.[64] However, a 2006 report from Italy found that over 90% of studied pheochromocytoma patients demonstrated elevated chromogranin A levels.[65] If metanephrine values are equivocal, chromogranin A can be used as an adjunct marker to predict the presence of a tumor.
Borderline elevated metanephrines present a diagnostic challenge to the physician - the first step is to repeat the labs, taking extra precautions to follow the gold standard diagnosis described above, including the conditions of collection, pharmaceutical interference, and any potential diet and lifestyle habits that could alter the results. If the offending medications cannot be discontinued or repeated labs remained the same, consider administering a clonidine suppression test.[non-primary source needed][66] In the 1970s, the drug clonidine hydrocloride swept the market as a novel agent for hypertension; however, the reported side-effects (nausea, vomiting, drowsiness, dryness of the eyes and mouth, constipation, and generalized weakness) limit compliance and have vastly diminished prescriptions.[67] While the adverse side-effects with clonidine are inconvenient, the most dangerous aspect of clonidine is withdrawal rebound hypertension - that is, when the medicine is abruptly discontinued, blood pressure may rapidly return or surpass the original value.[68][69][70] However, a one-time, weight-based dose can be utilized in limited settings to help determine disease status.[56] After fasting overnight, patient's will present to their testing site for a baseline metanephrines blood draw and clonidine administration. They will remain supine for (3) hours and a repeat blood draw will be taken. A positive result (indicating a pheochromocytoma) will occur if the plasma metanephrine levels remain elevated after clonidine is given. If the results are the same or fall, the test is negative and the patient does not have a pheochromocytoma.[56] It is important to note that if a patient does not have a pheochromocytoma, they may become extremely hypotensive following clonidine. Patient's should not depend on themselves for transport following this test.
Plasma methoxytyramine is a breakdown product of the catecholamine, dopamine. Paragangliomas of the head and neck commonly secrete dopamine, but are referred to as "biochemically silent" because they do not cause the characteristic symptoms associated with a pheochromocytoma. However, methoxytyramine can be utilized to detect the tumors of the head and neck.[non-primary source needed][71] Further research indicates that the biomarker is also a useful indicator of metastatic disease - which is the only current biochemical evidence of metastases to date.[72]
#### Biochemical phenotypes[edit]
Structure of epinephrine
While diagnostic, laboratory values can also provide physician's with important information about the type, location, size, and associated tumor genotype.[62] There are (3) major, well-recognized biochemical phenotypes that can be used by health care providers to direct patient care.[73]
1. Adrenergic (Epinephrine and metanephrine)
* More likely to indicate an adrenal tumor[non-primary source needed][74]
* When plasma metanephrine levels were elevated to greater than 15% of the combined levels of normetanephrine and metanephrine, an adrenal tumor or a recurrence of an adrenal tumor that had already been excised can be predicted
* Patients are more likely to present with the classic, paroxysmal (episodic) symptoms described above[62]
2. Structure of norepinephrine
Noradrengeric (Norepinephrine and normetanephrine)
* More likely to indicate an extra-adrenal tumor[74]
* Patients are more likely to present with continuous, persistent pheochromocytoma-related symptoms (hypertension and tachycardia) compared to those that are classically episode with an adrenergic phenotype[62]
* Common in patients with von-Hippel Lindau and succinate dehydrogenase subunit X genetic variants[62]
3. Structure of dopamine
Dopaminergic (Dopamine and 3-methoxytyramine)
* More likely to indicate an extra-adrenal tumor of the head and neck[73]
* Patients are more likely to be asymptomatic; however, they may present with non-specific signs of nausea, vomiting, abdominal pain, diarrhea, and weight loss secondary to the stimulation of dopamine receptors throughout the gastrointestinal tract[62]
* Particularly prevalent in patients with succinate dehydrogenase subunit B genetic variants [62]
Across both an adrenergic and a noradrenergic phenotype, the greater the sum of plasma or urinary concentrations of metanephrine and normetanephrine, the larger the expected tumor diameter.[74]
### Tumor localization[edit]
#### Anatomic imaging[edit]
Anatomic imaging refers to computed tomography (CT) [CAT scan] or magnetic resonance imaging (MR) scans. These imaging modalities serve to initially locate the tumor and provide detailed information about size, morphology, and structural relation to adjacent internal structures.[75] Traditionally, a patient presents to their physician for symptoms concerning for a pheochromocytoma, which prompts a biochemical evaluation. If the results are positive, the patient is referred for anatomic imaging with a CT or MR scan. However, as anatomic imaging becomes more readily available, patients are referred to an endocrinologist after an incidental (unanticipated finding) adrenal nodule is found on a scan ordered for another reason.[76] For example, "Patient M" presents to his local emergency room for abdominal pain and a CT is ordered to rule-out appendicitis; however, the radiologist notes there is a 3.5 centimeter right adrenal mass.
While there has not been a consensus on if CT or MR is the preferred imaging modality in pheochromocytoma, each method has its associated strengths and weaknesses. As CT expose the patient to ionizing radiation, MR is preferred in children and pregnant women.[77] Furthermore, the intravenous contrast used in CT can cause kidney damage and should therefore be avoided in patients with pre-existing damage.[78] However, patients who struggle with being in confined spaces for extended periods of time (claustrophobia) cannot often tolerate an MR as the machine is close-ended compared to the open-ended design of a CT.[79] When patients become anxious and begin to move in the machine, this causes motion artifact, which occurs less in CT-based images.[80]
Compared to CT and MR, ultrasound is not a preferred imaging modality and should be avoided in the pheochromocytoma patient. However, in specific patient populations where avoid ionizing radiation is the top priority (children, pregnant women), ultrasound can be used as an adjunct method when MR may be unavailable or the patient is unable to complete the scan. Furthermore, if an acute adrenal hemorrhage is suspected in a pheochromocytoma patient, ultrasound is a quick, painless, radiation-less, and cheap modality for a "first-pass" before the above imaging modalities or surgery is used to confirm the diagnosis.[81]
#### Functional imaging[edit]
The imaging modalities discussed below are for tumor characterization, confirmation of metastatic disease, and treatment planning - they are not used to discern tumor location or help the surgical team prepare for excision.[82] For most pheochromocytoma patients, functional imaging will follow a CT or MR. If anatomic imaging only demonstrates an adrenal tumor without evidence of disease anywhere else in the body and the metanephrine levels are overtly elevated, functional imaging can be foregone in favor of prompt surgical excision.[77] Over the last decade, there have been five functional techniques used to evaluate the pheochromocytoma patient (1) 18F-fluorodeoxyglucose positron emission tomography (18F-FDG PET), commonly referred to as the PET scan, (2) iodine-123 meta-iodobenzylguanadine (123I-MIBG), (3) 18F-flurodihydroxyphenylalanine (18F-FDOPA),(4) 68Ga-DOTA coupled somatostatin analogs (68Ga-DOTA),(5) 11C-Hydroxy ephedrine(HED-PET). From this point forward, these imaging modalities will be referred to in their abbreviated names found in parentheses.
MIBG Scintigraphy – the pheochromocytoma is appreciated in the left panel on the right side of the screen (right panel; left side of the screen) as the darkened circle towards the abdomen. The darkened structure at the head of the patient is the thyroid gland, while the darkened structure in the pelvis of the patient is the bladder. This is normal physiologic uptake.
The first functional imaging technique utilized in pheochromocytoma patients was 123I-MIBG scintigraphy (Image Right). Given the compounds similar structure to the catecholamine norepinephrine (secreted by pheochromocytomas), MIBG was well-suited for uptake by most neuroendocrine tumors.[83] Furthermore, if a patient was found to be positive on an MIBG scan, they were eligible for MIBG treatment, offering additional avenues for those suffering from widespread metastatic disease.[84] However, further investigation revealed that while MIBG excelled with adrenal lesions, it was far less superior in patients with extra-adrenal paragangliomas, particularly with specific genetic variants like succinate dehydrogenase subunit X (SDHx).[72] As the positron emission tomography scans were developed, MIBG has slowly loss its favor for the pheochromocytoma patient.[72]
FDG PET – the tumor is appreciated as the dark structure in the patient's left chest. Darkened structures at head of patient is brain, in the abdomen are the kidneys, in the pelvis is the bladder. These are normal.
Of the four above mentioned modalities, 18F-FDG PET is the most common and readily available functional imaging technique at most hospital systems, but the least-specific to neuroendocrine tumors (Image Left). In 2012, over 200 patients participated in a trial that compared the current gold standard of the time (MIBG/CT/MRI) to the novel FDG PET. Compared to its functional counterpart, FDG outperformed MIBG in detecting soft-tissue and bone metastases with a higher specificity in patients with biochemically active tumors.[72]
Following the development of FDG-PET, neuroendocrine-specific PET scans began to emerge. One of the first favorable imaging modalities was 18F-FDOPA, which demonstrated a high sensitivity in detecting head and neck paragangliomas as well as non-metastatic disease outside of the head and neck.[72][85] Unfortunately, in cases of metastatic disease, particularly related to succinate dehydrogenase subunit B (SDHB) mutations, 18F-FDOPA fell inferior to the traditional FDG-PET.[86] However, for patients with genetic variants in other pheochromocytoma-susceptibility genes (NF1, VHL, RET) 18F-FDOPA has become the preferred radiopharmaceutical agent.[87]
The newest PET modality involves somatostatin receptor type two receptor imaging with 68Ga-DOTA analogues.[80] Over the last decade, further research continues to indicate the superiority of this functional imaging modality in a wide-range of clinical scenarios, even surpassing anatomic imaging (CT/MR) in pediatric patients with succinate dehydrogenase (SDHx) mutations.[non-primary source needed][88] While FDOPA inconsistently detected metastatic disease, 68Ga-DOTA analogues have demonstrated superior localization of metastatic pheochromocytoma.[non-primary source needed][89] When directly compared in one head-to-head study in 2019, 68Ga-DOTA analogues outperformed FDOPA, particularly in the detection of metastatic bone lesions.[90] An additional benefit of the DOTA analogues is the ability for treatment with peptide receptor radionuclide therapy, which will be discussed in the treatment section below.[91]
Also, HED-PET has shown to be an accurate tool to diagnose and rule out pheochromocytoma in complex clinical scenarios and to characterise equivocal adrenal tumours.[92]
## Management[edit]
### Surgery[edit]
Surgical resection is the only curative option for pheochromocytoma as of 2019.[93] A successful excision is a multidisciplinary effort involving the endocrinologist and the patient pre-operatively (discussed below) and the surgical team and anesthesiologist intraoperatively. Without frequent and adequate communication between all of the above mentioned teams, a favorable outcome is much more difficult.[93] The United States Endocrine Society 2014 Clinical Practice Guideline for pheochromocytoma recommend a laparoscopic adrenalectomy (minimally invasive technique) for most adrenal tumors, unless they are invasive or are larger than 6.0 centimeters.[94] It is important to note that larger tumors can be attempted with a minimally invasive approach, but the team should be prepared to convert to an open procedure if necessary.[non-primary source needed][95] An open procedure (traditional surgical technique) is currently preferred for extra-adrenal disease, unless the tumor is small, non-invasive, and in an easy to maneuver location. While previous data indicated the need for a minimally invasive approach with malignant and/or metastatic disease, current research indicates a successful operation is feasible and results in a shorter hospital stay.[non-primary source needed][96] Literature within the last decade has also demonstrated that the robotic technique may be successfully utilized for adrenal tumors.[97]
Typically, a complete or total adrenalectomy is performed; however, a technique referred to as "cortical-sparing" can leave a remnant (piece) of the adrenal gland in hopes of avoiding life-long steroid replacement if the left and right adrenal glands need to be removed.[98] The issue is particularly important in patients with MEN and VHL-related disease, which has a higher chance of bilateral pheochromocytomas.[non-primary source needed][99] The risk of leaving adrenal tissue is recurrent disease (tumor comes back). A 2019 cohort study reported that despite a 13% recurrent rate in patients who underwent a cortical-sparing adrenalectomy for pheochromocytoma, there was no decreased survival compared to their total adrenalectomy counterparts.[98]
#### Pre-operative management[edit]
Arguably, the most important part of a pheochromocytoma surgical plan is an adequate pre-operative blockade. Excess catecholamines have been described as a dormant volcano, ready to erupt at any time, wreaking catastrophic havoc on the body.[100] While the an eruption can occur at any time, two of the most common triggers are anesthesia and direct tumor manipulation, making surgery one of the most dangerous times for a pheochromocytoma patient if not properly prepared.[non-primary source needed][101] In order to help circumvent a catecholamine-crisis, the United States Endocrine Society recommends that all patients with functional (hormonally active) tumors be started on a pre-operative alpha-adrenoceptor blockade a minimum of seven days prior to surgery.[94] There are several medication options depending on the clinical scenario, each with their own associated strengths and weaknesses.
##### Alpha blockade[edit]
If the patient's blood pressure is moderately elevated, a selective, short-acting alpha-1 adrenoceptor antagonist (doxazosin, prazosin, terazosin) is the preferred agent.[100] However, the patient should be warned about the potential side-effect known as "the first-dose phenomenon." When patients are initially exposed to one of the above agents, they may become lightheaded, dizzy, and nauseous, particularly when transferring from a seated to standing position due to a rapid decrease in blood pressure.[102] These effects will decrease with time, but providers can try to avoid them by starting at a low-dose and slowly increasing until they reach their desired amount. In patient's with uncontrolled hypertension, the non-selective alpha-1 and 2 adrenoceptor antagonist (phenoxybenzamine) should be utilized.[100] Unfortunately, compared to the selective agents listed above, phenoxybenzamine is much more expensive and may not be readily available to some patients. Common side-effects include dry mouth, nasal congestion, and impaired male ejaculation, all of which do not cease with time and may limit patient compliance.[103] While uncommon, patients may have a hormonally-active pheochromocytoma and a normal blood pressure. One comparison from 2014 found that a small dose of a calcium-channel blocker (such as amlodipine) may be used pre-operatively in some people.[104] This will not drastically lower the patients blood pressure and make them hypotensive, but it will assist the surgical and anesthesia teams if there is hemodynamic instability during the operation.
##### Beta blockade[edit]
An elevated heart rate (tachycardia) and the feeling of a racing heart (palpitations) may follow after initiating an alpha-adrenoceptor antagonist. If that is the case, a beta-adrenoceptor antagonist is then prescribed to control the heart rate.[100] Just as with the alpha antagonists, there are selective (beta-1) and non-selective (beta-1 and beta-2) adrenoceptor antagonists. The selective agents (atenolol, metoprolol) are preferred to the non-selective agents (propranolol).[100] There are several (labetalol, carvedilol) combined alpha-beta-adrenoceptor antagonists. These agents should be avoided whenever possible as there is upwards of seven times more beta-adrenoceptor antagonism than alpha, which can worsen hypertension and lead to a catecholamine crisis.[needs update][105]
##### Complications[edit]
beta-adrenoceptor antagonists should not be given alone in a pheochromocytoma patient - this can lead to severe consequences.[non-primary source needed][106] In 1995, a team of physicians from London described the death of a person who had been recently diagnosed pheochromocytoma after initiation of propranolol, a non-selective beta blocker. She quickly developed a hypertensive crisis leading to shock, myocardial infarction, heart failure, and dense right hemiplegia. Despite attempts at resuscitation, the person died several days later.[107] This complication is related to the impact that alpha and beta-adrenoceptor antagonists have on blood vessels combined with the actions of catecholamines. The normal blood vessel is open, allowing for adequate blood flow. When catecholamines activate the alpha receptor, the vessel constricts (gets smaller), which results in hypertension.[108] However, when catecholamines active the beta receptor, the blood vessel dilates (gets larger) and allows for increased blood flow, reducing the blood pressure.[109] If a pheochromocytoma patient is only started on a beta-adrenoceptor antagonist, this reverses the protective vasodilation and worsens the patients hypertension.
##### Controversy[edit]
While the pre-operative alpha and beta blockade discussed above is overwhelmingly recognized as the standard of care, particularly in the United States, there has been discussion at the international level if a blockade is necessary. In 2017, a team of researchers from Germany published an observational case series that called into question the current recommendations for a blockade.[110] The study examined the intraoperative maximal systolic arterial pressure in people with and without alpha-adrenoceptor blockade and found no difference in complications between the two groups.[110] The following year, a group from France published a similar article with a warning against waiting an entire week to begin alpha-blockade. The French researchers called for immediate surgical intervention and consideration of steps to mitigate any intraoperative catecholamine crisis.[111] These articles resulted in rebuttals[101][112] from research teams in the United States, but an international consensus has not yet been reached.
#### Perioperative fluid status[edit]
Excess catecholamines cause a decrease in the total blood volume, making a patient vulnerable to hypotension during the operation.[113] Therefore, a high-sodium diet with adequate fluid intake should be encouraged prior to surgery.[114] Some institutions in the United States will even admit patients the night prior to surgery for intravenous fluid replacement starting at midnight until the time of the operation.[100] However, a small trial from 2009 reported no difference in mortality in patients treated with preoperative intravenous fluids compared to those who did not.[115]
In a 2010 survey of 40 endocrinologists by researchers at the Cedars-Sinai Medical Center in Los Angeles, California, nearly all indicated the importance of preoperative volume resuscitation (having the patient take in plenty of fluids prior to surgery). However, after reviewing their patient data, over 60% of the same physicians failed to discuss salt-loading and adequate hydration.[needs update][non-primary source needed][116] When the patients were stratified by age, those that were younger received the advice to hydrate, but older patients did not. It was hypothesized that the providers chose to forego volume repletion in the older patient population for fear of their potential comorbidities (heart failure) where excess fluid is dangerous.[116] While there is still no recognized consensus or gold standard, providers should individualize the decision based on the patient's perceived nutritional standing, volume status, comorbidities, and ability to self-hydrate.
#### Post-operative management[edit]
The most common post-operative complications, likely causes, and treatment options are:[117][118]
Cardiovascular
1. Hypertension: In the pheochromocytoma patient, postoperative hypertension could indicate incomplete tumor resection or another tumor of unknown location. However, the traditional, non-specific causes of postoperative hypertension including pain, fluid overload, and essential hypertension must also be considered. A perioperative hypertensive crisis is first treated with a 5.0 milligram (mg) intravenous bolus of phentolamine, with additional 5.0 mg dose every ten minutes until the blood pressure falls within an acceptable range.[non-primary source needed][119] If the blood pressure is only minimally elevated, the patient can resume their alpha and beta-adrenoceptor antagonist from prior to surgery.[117]
2. Hypotension: There are several reasons a patient may have low blood pressure in the post-operative period. First and foremost, the tumor (and its abundance of catecholamines causing high blood pressure) has been removed. Furthermore, the patient may still experience the effects of their alpha-adrenoceptor antagonist, which causes lower blood pressure.[118] First-line treatment for postoperative hypotension is aggressive fluid resuscitation, which is why ensuring the patient is well-hydrated (see above) prior to surgery is so imperative.[117] Vasopressors may be needed if the blood pressure does not respond to fluids.
Endocrine
1. Hyperglycemia: Catecholamines prevent the secretion of insulin – a hormone responsible for lowering the body's blood glucose (sugar). Blood glucose levels should be checked frequently in the perioperative period and insulin should be given as needed if levels are elevated. Following resection, tumor-related hyperglycemia is likely to resolve.
2. Hypoglycemia: After the tumor is removed, insulin is no longer inhibited, which can bring the blood glucose dangerously low. Symptoms include tremor, anxiety, palpitations, sweating, altered mental status (confusion), dizziness, and blurred vision.[120] A retrospective analysis of beta blocker found that some beta blocker use may cause people to more prone to hypoglycemia and not experience these symptoms, which could delay the diagnosis.[121]
3. Adrenal Insufficiency: Following a bilateral adrenalectomy (left and right), the patient is no longer capable of secreting the necessary hormones to keep their body functioning. Life-long steroid (hydrocortisone and fludrocortisone) oral supplementation may be required to ensure they do not develop adrenal insufficiency.[non-primary source needed][122] When the body is stressed (during surgery), the adrenal glands naturally produce more steroids; however, if the glands have been removed, they are unable to do so. Therefore, "stress-dosing" steroids are required and should be started intraopertively to mimic the natural physiology of the adrenal glands.[123] The typical regimen when post-operative adrenal insufficiency is thought to be likely:[117][118]
1. 50 milligram (mg) intravenous hydrocortisone in the operating room prior to anesthesia
2. Repeat administration of 25–50 mg intravenous hydrocortisone every eight hours for a maximum of 72 hours (3 days) after the operation. Convert to oral replacement therapy as soon as the patient is able to take medication by mouth
3. Patients should be transitioned to a normal maintenance (regular, daily) dose of steroids prior to discharge and referred to endocrinology for proper titration and management. Depending on the patient's total body surface area, the total typical daily dose of hydrocortisone is between 15 and 25 mg daily (divided into morning and afternoon pills).[124]
4. Those who have lost both their adrenal glands will also require another steroid (mineralcorticoid replacement). The typical daily dose is between 50 and 200 micrograms of fludrocortisone[124]
There have been many other reported complications (renal failure, heart failure, intestinal pseudo-obstuction) following tumor resection. However, the above are more likely to be encountered, which is why their management has been specifically outlined here in this article.
## Metastatic disease[edit]
### Diagnosis and location[edit]
Metastatic pheochromocytoma is defined as the presence of tumor cells (chromaffin tissue) where they are not normally found.[125] Patients with a paraganglioma are more likely to develop metastases than those with a pheochromocytoma.[126] The most common extra-adrenal sites of metastases are the lymph nodes, lung, liver, and bone.[127] There have been several studied risk factors associated with the development of metastatic disease - while the patients genetic background plays an important role, the initial age of presentation and size of the tumor lead to negative outcomes.[125] Of all the genetic variants, succinate dehydrogenase subunit B (SDHB) mutations have the highest rates of developing metastatic disease.[126] Another study has reported increased mortality associated with male sex and synchronous metastases.[126] Metastases are divided into synchronous and metachronous; those that are synchronous have developed within several months of the primary tumor, while metachronous metastases do not appear for a significant period of time.[128]
Laparascopic approach to the original disease, specially in big tumors, has been appointed as an important risk factor for tumoral seeding.[129]
Despite all of the below potential treatment options, recent literature highlights that (for most patients) metastatic pheochromocytoma is slow-growing. In patients with minimal disease burden, a "watch and wait" approach with frequent imaging to monitor disease is favorable, withholding treatment until evidence of progression is visualized.[130]
### Treatment[edit]
Metastatic pheochromocytoma is best managed with a multidisciplinary team of oncologists, surgeons, radiologists, nuclear medicine physicians, and endocrinologists. There are several treatment options available to patients depending on the amount and location of disease:
Surgery - Normally, the goal of surgery is complete cytoreductive surgery;[129] leave no remnant of disease.[131] However, with widespread metastatic disease, this is not always feasible. Therefore, a surgical debulking procedure is performed (removing as much of the cancerous tissue as possible) in order to reduce patient symptoms by removing the source of catecholamines, improve response to chemo or radionuclide therapy, or simply decrease the size of the tumor.[132] Unfortunately, the intended relief from the procedure is often short-lived, especially if the patient has disease outside the abdomen.[132] A 2013 study from the National Institutes of Health reported that a majority of patients suffered from recurrent biochemical evidence of disease within one year of the operation and less than 30% continued to be biochemically free of disease after five years.[132]
In contrast to an operation for non-metastatic disease, an open procedure may be preferred over a minimally invasive technique in order to circumvent potential tumor spread.[133] This also aids surgical visualization and offers the best opportunity to identify and remove metastatic lymph nodes.[134] Reports have also indicated the utility of administering a radionuclide agent like iodine-123 meta-iodobenzylguanadine (123I-MIBG) prior to surgery and then scanning the patient intraoperatively with a probe to detect disease that may be missed with the naked eye.[135]
Patient receiving radiation therapy to the region of the head and neck. Full facial mold is in-place to protect areas where they do not want exposure
Radiation Therapy - With regard to pheochromocytoma, radiation techniques are primarily used for pain control, specifically with regards to bone metastases, local control of the disease, and to limit spinal cord compression.[136] A multidisciplinary team from the Mayo Clinic retrospectively reviewed all of their patients who underwent external beam radiation therapy from 1973-2015 and reported that 94% of patients acknowledged symptomatic improvement and over 80% of patients showed no evidence of recurrent disease 5-years post-therapy.[137] nother report from the same institution looked at almost two decades of patients who underwent radiofrequency ablation, cryoablation, or percutaneous ethanol injection for metastatic pheochromocytoma and reported that local control was achieved in over 85% of targeted lesions and that 92% of procedures were associated with reduced pain and/or symptoms of catecholamine excess.[138]
Chemotherapy - The most common chemotherapy regimen for metastatic pheochromocytoma is cyclophosphamide, vincristine, and dacarbazine, collectively known as CVD.[139][140] Response to therapy is measured by a reduction in total tumor volume as well as symptomatic relief, reported by the patient. A systematic review and meta-analysis of unstratified pheochromocytoma patients who underwent CVD therapy showed that 37% of patients had a significant reduction in tumor volume, while 40% of patients experienced lower catecholamine burden.[139] While there was no difference in overall survival between patients whose tumors shrunk versus those without a response (no reduction in tumor burden via imaging), even in non-responders, patients reported feeling better, blood pressure was lower, and some patients were even able to undergo surgery following disease stabilization with CVD.[141] When patients are studied by various categories, research has suggested that females are less likely to have extended survival with CVD chemotherapy compared to their male counterparts.[142] Genetic status has been shown to greatly impact response to CVD. A team of researchers from the National Institutes of Health reported that patient's with succinate dehydrogenase subunit B (SDHB) mutations are not only more likely to initially respond to CVD, but that they also experienced over 30 months of progression free survival (time until tumor returned) with continued administration.[143]
However, CVD is not the only proven chemotherapeutic regimen in the pheochromocytoma patient. A 2018 report demonstrated the remarkable response of two SDHB patients who failed CVD chemotherapy (disease progressed despite medication), but were then treated with temozolomide (TMZ) and had progression free survival of 13 and 27 months, indicating that TMZ can be considered as an alternative treatment regimen in those who have progressed on CVD.[144] Several studies have since reported successful responses with TMZ, particularly in the SDHB sub-population.[145][146]
Radionuclide Therapy
* Iodine-131 meta-iodobenzylguanadine (MIBG)
* As was mentioned in the functional imaging section above, MIBG is not only useful in locating the presence of metastatic disease, but also as an available treatment modality. In 2019, a multi-center phase 2 trial looked at the safety and efficacy of MIBG therapy in metastatic or unresectable (not conducive to surgery) pheochromocytoma patients and the results were promising.[147] Median overall survival was 36.7 months and 92% of patients had at least a partial positive response (tumor shrinkage) or stable disease without progression within the first year of the study. Furthermore, over a fourth of the patients were able to decrease their anti-hypertensive medications and reported symptomatic improvement.[147] There are several patients who are not eligible for MIBG treatment, including pregnant women (exposure to radiation is harmful to the fetus), women who are actively breast feeding, patients in renal failure, and those are who not expected to live longer than 3-months.[148] As MIBG therapy can destroy the thyroid, protective medications (potassium iodide) are started prior to treatment and need to be continued for at least 3 weeks after therapy concludes.[148] Associated side-effects (muscle weakness, nausea, vomiting and hematologic (blood) toxicities, are common, but often minimal, and can be mitigated with slow, steady dosing.[149]
Top: Purple lesions are metastatic disease detected with DOTATATE imaging. Bottom: Same patient. Purple lesions are metastatic disease detected with FDG PET
* Peptide Receptor Radionuclide Therapy (PRRT)
* The newest of the treatment options, PRRT utilizes the 68-Ga DOTA analogues mentioned above in the functional imaging section.[150] Treatment with 177Lu-DOTATATE first demonstrated success in patients with undifferentiated neuroendocrine tumors and then trials began with metastatic pheochromocytoma patients.[151][152] In 2019, Vyakaranam et al published favourable results for their 22 patients who underwent PRRT, with partial response in 2 patients and stable disease (no progression) in the remaining 20 patients.[153] Overall toxicity was low, with no high-grade haematological (blood) or kidney damage reported.[153] At the end of that same year, a systemic review looked at all published articles (12) where metastatic pheochromocytoma patients underwent PRRT and found that treatment-related adverse events are minimal, with only 5 out of 102 patients choosing to voluntarily initiate treatment discontinuation.[154] Newer reports have detailed the utility of combining 90Y-DOTATATE with the traditionally studied 177Lu analog and the various possibilities and novel treatment options these combinations will bring to the field.[155] While the overall reported side-effects have been promising, it is important While the overall reported side-effects have been promising, it is important to note that a collaborative effort between the National Institutes of Health and Radboud University Medical Centre reported two unfortunate cases of rapid disease progression following a remarkable, almost complete response to PRRT. While the etiology of their recurrence is unknown, the team speculated that an elevated tumor marker (Ki-67) could be an indication of a poor response to PRRT and called for pre-PRRT assessments to include Ki-67 values to help individualize patient treatment plans.[156]
## Prognosis[edit]
According to the National Cancer Institute, prognosis is defined as the likely outcome of a disease OR, the chance of recovery or a recurrence.[157] This is an extremely difficult question when it comes to pheochromcytoma, and the answer depends on the patients genetic status, presence of metastatic disease, and the location of their primary tumor.[158] An article about prognosis published in 2000 reported a 91% 5-year survival rate in their patient population; however, it is important to note that over 86% of their patients had sporadic tumors (no known genetic mutation), which commonly have low malignant potential.[159] In 2019, a consortium of almost twenty European medical centers looked at the prognosis of malignant pheochromocytoma and the data starkly varies from the report of sporadic, single tumors, with a median survival of 6.7 years.[160] Overall survival improved if the patient had (1) disease of the head and neck compared to abdomen, (2) less than 40 years of age, (3) and if their biochemistry was less than five times the upper reference limit of normal.[160]
Recent literature has detailed several factors that predict accelerated progression of disease and higher mortality rates, including patients who choose to forego surgical resection of their primary tumor, larger tumors at initial presentation, older age at initial diagnosis, and a shortened time from primary tumor to presence of metastases.[161] The actual location of the metastases can also indicate prognosis, with osseous lesions (bone) fairing better than their soft-tissue (lung, liver) counterparts.[162]
## Epidemiology[edit]
According to the North American Neuroendocrine Tumor Society, the prevalence of pheochromocytoma is between 1:2500 and 1:6500, meaning that for every 2,500 – 6,500 people, there is (on average) one person with pheochromocytoma.[163] In the United States, this equates to an annual incidence (new cases per year) of 500 to 1600 cases.[163] However, approximations in the early 2000's reported that upwards of 50% of pheochromocytoma diagnoses are at autopsy; therefore, the above estimations may be lower than expected.[10] In a 50-year autopsy case series, the Mayo Clinic reviewed 54 pheochromocytoma cases between 1928–1977 and discovered that just 24% of the patients were correctly diagnosed prior to their death.[needs update][non-primary source needed] [164] Outside of the United States, several countries have documented their own epidemiological studies and compared them to what is known in North America. In the first national, epidemiological population-based study in Asia utilizing Korean National Health Insurance Service data, the prevalence of a pheochromocytoma was reported at 2.13 per 100,000 persons with an incidence of 0.18 per 100,000 person-years.[165] This is lower than the occurrence reported from Rochester, Minnesota (0.8 per 100,000 person-years) in a study conducted from 1950-1979.[166] However, the Netherlands also conducted a study using a nationwide registry and reported incidence results of 0.57 per 100,000 person-years from 2011–2015, which was a significant increase from their 0.37 cases per 100,000 person-years reported from 1995–1999.[167] Current hypotheses for why the incidence of pheochromocytoma is growing in the Dutch population point to the advent of modern imaging evaluation and the ability to detect these tumors prior to death.[168] While each of the above studies reported varying incidence and prevalence values, all have indicated that the average age at initial diagnosis is between the third to fifth decade of life.[169] When younger patients are diagnosed with a pheochromocytoma, there should be a high suspicion for hereditary disease, as genetic anticipation (earlier disease onset with each generation) is associated with some mutations.[170]
Likelihood of diagnosis when an adrenal-nodule is identified; pheochromocytoma is in yellow near the top-right corner
Classically, the pheochromocytoma "rules of 10" have been taught, particularly to medical students:[171]
* 10% of patients have malignant disease
* 10% of patients have bilateral (both left and right adrenal glands) disease
* 10% of patients have extra-adrenal (paraganglioma) disease
* 10% of patients have inherited (familial disease)
Despite the prominence in many respected textbooks, these guidelines have since been established as inaccurate and are not used in current epidemiological discussions.[169]
As suggested above, incidental imaging has become a major player in the diagnosis of patients with pheochromocytoma, with current estimates between 10–49% of all cases diagnosed after imaging was obtained for another reason. When an adrenal nodule (potential tumor) is discovered on computed tomography or magnetic resonance imaging, there is between a 5 and 10% chance the lesion is a pheochromocytoma.[169] The incidence of adrenal tumors is found in the infographic above, with pheochromocytoma noted in yellow in the top right corner.
## History[edit]
Professor Ludwig Pick, the German physician who first coined the term "pheochromocytoma" in 1912 after recognizing the color-change associated with the addition of chromium salts
In 1800, an Irish physician (Charles Sugrue) penned a case report to the London Medical and Physical Journal describing the peculiar case of an 8-year old male patient who had suffered from seemingly random fits of pain concentrated in the abdomen accompanied by "a hectic flush distinctly marked on each cheek" with a "constant profuse and universal perspiration."[172] Following his death, a group of physicians performed an autopsy to determine cause of death and discovered a six-inch oblong tumor composed of an unknown "yellow-ish coloured substance" coming from the capsula renalis (what is now known as the adrenal gland).[172] This would become the first known clinical description of a pheochromocytoma, but as no features of the tumor itself were described, complete credit is given to the German Felix Fraenkel, who provided a clinical and morphologic picture of this tumor.[173][174] While various physicians were recognizing symptoms and treating patients, Czech biologist Alfred Kohn reported his discovery of the paraganglia system, which would later become crucial to the diagnosis of these tumors. Furthermore, he also introduced the term "chromaffin," allowing pathologists to recognize tumors that arose from the adrenal gland.[175]
In 1908, two pathologists, Henri Alezais and Felix Peyron, introduced the scientific community to "paraganglioma" after they discovered extra-adrenal tissue that reacted to chromium salts, which mimicked the reaction of the adrenal medulla.[176] Just four years later, German pathologist Ludwig Pick coined the term "pheochromocytoma" after he observed the consistent color change in tumors associated with the adrenal medulla.[177] Many surgeons attempted to remove these tumors over the next decade, but their patients died intraoperatively from shock. In 1926, Charles Mayo (a founder of the Mayo Clinic) became the first physician to successfully excise a pheochromocytoma.[177] However, Mayo was likely unaware of the diagnosis prior to the operation. Not until 1929 was a pheochromocytoma recognized preoperatively.[178] Throughout the early 1900s, the operative mortality rate for a pheochromocytoma ranged from 30-45%. Retrospective series have postulated that these alarmingly high death rates were due to the lack of a pre-operative blockade with alpha and beta-adrenoceptor antagonist and the need for modern anesthesia practices.[179] From this point forward, physician-scientists have been recognizing patterns in patients with pheochromocytoma and identifying genetic associations and various syndromes.[178]
## Society and culture[edit]
While a rare disease, there have been several references to pheochromocytoma in popular culture and the media, specifically medical television dramas. Additionally, there is a strong online patient advocacy community that works to connect patients with rare diseases and allows them to meet other individuals who are experiencing similar diagnoses and treatment strategies.
### Zebra culture[edit]
The Zebra has become a powerful symbol in the pheochromocytoma advocacy community and represents the rare medical cases that are more likely to be misdiagnosed
In the medical community, students are often taught "when you hear hoofbeats in Texas, think horses, not zebras."[180] In other words, common diagnoses are common, so healthcare professionals should first rule out what is most expected (the horses) before diving into the rare etiologies that are far less likely to be correct (the zebras). However, the symbol of the zebra has become increasingly powerful to the rare disease community and resulted in several organizations, societies, and special events (Rare Disease Day) to draw attention to the least common option sometimes being the correct diagnosis.[181]
The National Organization for Rare Disorders is a United States-based advocacy parent organization with the goal of promoting awareness and research opportunities to cure rare diseases.[182] Groups such as these encourage patients to become their own advocates and change agents in their healthcare decision making processes.
### Media[edit]
In July 2012, an actual pheochromocytoma patient, Tannis Brown, former Vice-President of the PheoPara Troopers, was featured on the Discovery Fit & Health Network program Diagnosis: Dead or Alive.[183] The show highlighted her personal struggle with misdiagnosed disease as many physicians felt her episodic headaches and hypertension (high blood pressure) were related to stress.[184]
In the seventh and eighth seasons of Greys Anatomy, series regular Dr. Teddy Altman has a Von Hippel-Lindau (VHL) mutation that has resulted in a pheochromocytoma. The story arc was met with mixed opinions from the rare disease community.[185] Then executive Director of the VHL Alliance was happy with the portrayal of a VHL patient in mainstream media, but pointed out that of the four scripts she knew of with a VHL patient, three involved a pheochromocytoma, which actually occurs in less than a fifth of all VHL patients.[186][187]
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## External links[edit]
* "General Information About Pheochromocytoma and Paraganglioma" from the National Cancer Institute
* Pheochromocytoma and Paraganglioma from the American Society of Clinical Oncology
* Pheochromocytoma; Rare Disease Database from the National Organization for Rare Disorders
* Pheochromocytoma and Paraganglioma from the Neuroendocrine Tumor Research Foundation
* What's to Know about Pheochromocytoma from Medical News Today
* MedlinePlus Overview pheochromocytoma
* GeneReviews entry on "Hereditary Paraganglioma-Pheochromocytoma Syndromes"
Classification
D
* ICD-10: D35.0, C74.1
* ICD-9-CM: 227.0, 194.0, 255.6
* ICD-O: M8700/0
* OMIM: 171300
* MeSH: D010673
* DiseasesDB: 9912
* SNOMED CT: 360332001
External resources
* MedlinePlus: 000340
* eMedicine: med/1816 radio/552 ped/1788
* Patient UK: Pheochromocytoma
* 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
Authority control
* NDL: 01148551
*[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
|
Pheochromocytoma
|
c0031511
| 27,917 |
wikipedia
|
https://en.wikipedia.org/wiki/Pheochromocytoma
| 2021-01-18T18:50:02 |
{"gard": ["7385"], "mesh": ["D010673"], "umls": ["C0031511", "C3149711"], "icd-9": ["227.0", "194.0", "255.6"], "icd-10": ["D35.0", "C74.1"], "orphanet": ["29072"], "wikidata": ["Q536269"]}
|
Polioencephalitis
SpecialtyNeurology/infectious disease
Polioencephalitis is a viral infection of the brain, causing inflammation within the grey matter of the brain stem.[1] The virus has an affinity for neuronal cell bodies and has been found to affect mostly the midbrain, pons, medulla and cerebellum of most infected patients. The infection can reach up through the thalamus and hypothalamus and possibly reach the cerebral hemispheres.[2] The infection is caused by the poliomyelitis virus which is a single-stranded, positive sense RNA virus surrounded by a non-enveloped capsid. Humans are the only known natural hosts of this virus. The disease has been eliminated from the U.S. since the mid-twentieth century, but is still found in certain areas of the world such as Africa.[3]
## Contents
* 1 Signs and symptoms
* 2 Mechanism
* 3 Diagnosis
* 4 Prevention
* 5 Treatment
* 6 Recent research
* 7 References
## Signs and symptoms[edit]
Signs and symptoms may vary and some individuals may not experience any symptoms at all. The most common reported symptom of polioencephalitis is fatigue. Fatigue is associated with difficulty in attention, cognition, and maintaining wakefulness[4] Some individuals experience psychiatric symptoms that include anxious mood, pain, insomnia, and depressed mood. Confusion and disorientation of time and space have also been reported. Motor symptoms vary more from patient to patient, but can include incoordination and tremors, nystagmus, loss of conjugate eye movements, rigidity and hemiparesis.[2]
## Mechanism[edit]
The poliomyelitis virus is an enterovirus that enters through the mouth and multiplies in the throat and epithelial cells of the gastrointestinal tract. It will then move to the bloodstream and is carried to the central nervous system. Once in the CNS, the virus will attach to a host cell by binding with a cell surface receptor. The host cell surface receptor is a glycoprotein that has been recently identified as CD155.[5] Once the virus has bound to the host cell, it will penetrate the host cell membrane and begin the replication of its genome. Many cells contain the surface receptor CD155; however, manifestation of this disease does not occur in all cells. The reason for incidence of the disease in only certain areas of the brain such as the brainstem is unknown. Once areas of the brain have been invaded by the virus, inflammation will occur. During inflammation, the brain’s tissues become swollen due to the body’s immune system response to the infection.[6] Fluid, white blood cells, dead cellular debris and inactivated viruses resulting from the actions of the immune response can significantly alter the fluid surrounding healthy neurons. The function of these healthy neurons can decline due to disruptions in the cell membrane affecting electrical properties of the neuron or by interfering with the blood supply causing anoxic cellular damage.[7] Depending on which neurons are damaged will result in a variety of different symptoms.
## Diagnosis[edit]
If someone is suspected of having polioencephalitis a sample of throat secretions, stool or cerebrospinal fluid is checked for the virus. Blood tests can be done to detect antibodies against viral antigens and foreign proteins. Virus isolation is the most sensitive method and it is most likely to be isolated from stool samples. Once isolated, RT-PCR is used to differentiate naturally occurring strains from vaccine-like strains.[8]
## Prevention[edit]
The virus is most often spread by person to person contact with the stool or saliva of the infected person. Two types of vaccines have been developed to prevent the occurrence and spread of the poliomyelitis virus. The first is an inactivated, or killed, form of the virus and the second is an attenuated, or weakened, form of the virus. The development of vaccines has successfully eliminated the disease from the United States. There are continued vaccination efforts in the U.S. to maintain this success rate as this disease still occurs in some areas of the world.[9]
## Treatment[edit]
There is no cure for polioencephalitis so prevention is essential. Many people that become infected will not develop symptoms and their prognosis is excellent. However, the prognosis is dependent on the amount of cellular damage done by the virus and the area of the brain affected. Many people that develop more severe symptoms can have lifelong disabilities or it can lead to death.[10] Supportive treatments include bed rest, pain relievers, and a nutritious diet.[11] Many drugs have been used to treat psychiatric symptoms such as Clonazepam for insomnia and Desvenlafaxine or Citalopram for depressed mood.
## Recent research[edit]
Research into the mechanism of this disease stalled with the development of the vaccines in the mid-twentieth century. However, with the recent identification of the cell surface receptor CD155 new interest has resurfaced in this disease. Experiments on transgenic mice are investigating the initial sites of viral replication in the host and how the virus moves from the bloodstream into the central nervous system.[5] Research into the host range of the virus has also been of interest. The host range of a virus is determined by the interaction of the virus with host cellular receptors such as CD155. Comparison of the amino acid sequence in the binding domain of the host cell receptor is highly variable among mammalian species. Rapid changes in the sequence of the binding domain have restricted the host range of the poliovirus.[12] Targeting of the brain and spinal cord have also come under investigation. The restricted tropism maybe due to organ specific differences in the initiation of translation by the virus internal ribosome entry site.[13]
## References[edit]
1. ^ "polioencephalitis – Dictionary definition of polioencephalitis | Encyclopedia.com: FREE online dictionary". Encyclopedia.com. Retrieved 28 July 2015.
2. ^ a b Snell, B. (1957). "Polioencephalitis: A Clinical and Laboratory Study". Br. Med. J. 2 (5037): 126–8. doi:10.1136/bmj.2.5037.126. PMC 1961859. PMID 13436875.
3. ^ "NMAH — Polio: How the Poliovirus Works". Si.edu. 1 February 2005. Retrieved 28 July 2015.
4. ^ Bruno, R.; Frick, N.; Creange, S.; Zimmerman, J.; Lewis, T. (1996). "Polioencephalitis and the brain Fatigue Generator Model of Post-Viral Fatigue Syndromes". J. Of Chronic Fatigue Syndrome. 2 (2–3): 5–27. doi:10.1300/J092v02n02_02.
5. ^ a b Racaniello VR (2006). "One hundred years of poliovirus pathogenesis". Virology. 344 (1): 9–16. doi:10.1016/j.virol.2005.09.015. PMID 16364730.
6. ^ "Brain inflammation". TheFreeDictionary.com.
7. ^ "The Effects of Encephalitis on the Brain". The Encephalitis Society. Archived from the original on 3 August 2015. Retrieved 28 July 2015.
8. ^ "Polio: Lab: Diagnostic Methods". Center for Disease Control. Retrieved 28 July 2015.
9. ^ "Polio". CDC Global Health. Center for Disease Control. Retrieved 28 July 2015.
10. ^ Charles Patrick Davis, MD, PhD. "Polio Symptoms, Causes, Treatment — How do physicians diagnose polio?". MedicineNet. Retrieved 28 July 2015.CS1 maint: multiple names: authors list (link)
11. ^ "Polio". Mayo Clinic. 11 March 2014. Retrieved 28 July 2015.
12. ^ Ida-Hosonuma M, Iwasaki T, Yoshikawa T, Nagata N, Sato Y, Sata T, Yoneyama M, Fujita T, Taya C, Yonekawa H, Koike S (2005). "The alpha/beta interferon response controls tissue tropism and pathogenicity of poliovirus". J. Virol. 79 (7): 4460–9. doi:10.1128/JVI.79.7.4460-4469.2005. PMC 1061561. PMID 15767446.
13. ^ Kauder SE, Racaniello VR (2004). "Poliovirus tropism and attenuation are determined after internal ribosome entry". J. Clin. Invest. 113 (12): 1743–53. doi:10.1172/JCI21323. PMC 420511. PMID 15199409.
*[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
|
Polioencephalitis
|
c0270613
| 27,918 |
wikipedia
|
https://en.wikipedia.org/wiki/Polioencephalitis
| 2021-01-18T18:50:42 |
{"umls": ["C0270613"], "wikidata": ["Q18928366"]}
|
Coronary heart disease is a complex multifactorial disorder for which several loci have been identified. CHDS1 represents a locus on chromosome 16pter-p13; CHDS2 (608316), on 2q21.1-q22; CHDS3 (300464), on Xq23-q26; CHDS4 (608318), on 14q32, and CHDS9 (612030) on 8p22. CHDS5 (608901) represents susceptibility associated with single-nucleotide polymorphism (SNP) in the KALRN gene (604605), on 3q13. CHDS6 (614466) is associated with a polymorphism in the promoter region of the MMP3 gene (185250), and CHDS7 (610938) represents susceptibility correlated with a common haplotype in the CD36 gene (173510) and high free fatty acid levels. CHDS8 (611139) is associated with SNP variation on 9p21.
Mapping
The prevalences of coronary heart disease (CHD), type II diabetes (NIDDM; 125853), and the metabolic syndrome (605552) in Mauritius are among the highest in the world. Francke et al. (2001) conducted a genomewide scan in 99 independent families of northeastern Indian origin, each containing a proband with onset of CHD before 52 years of age and additional sibs with myocardial infarction or NIDDM. Multipoint linkage analysis revealed a locus for CHD on chromosome 16pter-p13 (lod = 3.06, P = 0.00017), which partially overlapped a high pressure peak.
### Associations Pending Confirmation
In a metaanalysis of 7 prospective studies involving a polymorphism (W719R; rs20455) in the KIF6 gene (613919) on chromosome 6p21.2, including 3 prospective studies of individuals without CHD events at baseline and the placebo groups of 4 statin trials, Li et al. (2010) found that the risk ratio was 1.22 (combined p = 1.02 x 10(-6)). The risk estimate for 719R carriers in individual cohorts was not appreciably altered after adjustment for traditional risk factors, suggesting that the W719R polymorphism in KIF6 is a new independent risk factor for CHD. Li et al. (2010) noted that an association between the KIF6 W719R polymorphism and CHD was not observed in the Wellcome Trust Case Control Consortium (2007), but that the negative results might have been due to the fact that the association was not analyzed according to statin use in that study, thus reducing the power of the case-control design if individuals receiving statin therapy were included.
Assimes et al. (2010) genotyped the KIF6 W719R polymorphism in 19 case-control studies of nonfatal coronary artery disease (CAD), involving a total of 17,000 cases and 39,369 controls of European descent as well as a modest number of South Asians, African Americans, Hispanics, East Asians, and admixed cases and controls. None of the 19 studies demonstrated an increased risk of CAD in carriers of the 719R allele compared to noncarriers, and there was also no increase in the risk of CAD among 719R carriers in the subset of Europeans with early onset disease compared to similarly aged controls. Assimes et al. (2010) noted that their study did not explore whether statin use modifies the effect of the 719R allele on risk, but stated that it was unlikely that the null results were due to high prevalence of statin use at the time of event in cases.
Li et al. (2011) analyzed 170 SNPs in the KIF6 region in participants in 3 prospective, double-blind randomized clinical trials evaluating the effect of statin therapy on coronary events and identified 2 intronic SNPs, rs9462535 and rs9471077, that were associated with event reduction from statin therapy (interaction p less than 0.1 in each of the 3 studies). Li et al. (2011) noted that all 3 KIF6 SNPs were in high linkage disequilibrium with each other, and that functional studies were needed to understand the role of KIF6 in the pathogenesis of CHD and differential response to statin therapy.
*[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
|
CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 1
|
c1846418
| 27,919 |
omim
|
https://www.omim.org/entry/607339
| 2019-09-22T16:09:21 |
{"omim": ["607339"], "synonyms": ["Alternative titles", "CHDS1"]}
|
A number sign (#) is used with this entry because multiple types of cataract are caused by heterozygous mutation in the EPHA2 gene (176946) on chromosome 1p36.
Description
Mutations in the EPHA2 gene have been found to cause multiple types of cataract, which have been described as posterior polar, congenital total, complete, and age-related cortical.
The preferred title/symbol of this entry was formerly 'Cataract, posterior polar, 1; CTPP1,' and 'Cataract, Age-Related Cortical, 2; ARCC2' was formerly a distinct entry.
Clinical Features
In Nettleship's family (Nettleship (1909, 1912)), congenital posterior polar opacities were present and scattered cortical opacities appeared in childhood and progressed to total cataract. Tulloh (1955) described 15 affected in 5 generations. Valk and Binkhorst (1956) described associated choroideremia and myopia in 2 generations.
Ionides et al. (1997) reported 10 affected members of a family with autosomal dominant posterior polar cataract. The opacity, which was bilateral in all cases, consisted of a single well-defined plaque confined to the posterior pole of the lens and varied from 0.5 to 3 mm in diameter. Because of its proximity to the optical center of the eye, posterior polar cataract can have a marked effect on visual acuity. Hospital records indicated that the opacity was usually present at birth or developed within the first few months of life but did not progress with age to other regions of the lens. There was no evidence of posterior lenticonus or high myopia and no family history of other ocular or systemic abnormalities.
McKay et al. (2005) studied a 6-generation Tasmanian family segregating autosomal dominant congenital cataract, previously studied by Burdon et al. (2004), in which most of the 13 patients were elderly and aphakic with no preoperative clinical notes available, although cataracts in 2 patients had been described as 'complete.' Most affected individuals were diagnosed shortly after birth, and the mean age of cataract surgery was 3 years, 4 months. Of the 12 aphakic patients, 11 had nystagmus, 2 had exotropia, 4 had esotropia, and 4 had bilateral aphakic glaucoma. One obligate carrier was phakic with good vision, but unavailable for slit-lamp examination. No other ocular or systemic abnormalities were noted in this family.
Shiels et al. (2008) studied a 4-generation Caucasian family segregating autosomal dominant posterior polar cataracts with no systemic abnormalities. Ophthalmic records indicated that the cataracts usually presented in both eyes as disc-shaped posterior subcapsular opacities with evidence of posterior lenticonus. In 3 affected individuals, opacification progressed to affect the central (nuclear) and anterior polar regions of the lens. One affected individual also had monocular amblyopia, and 2 others developed strabismus requiring corrective surgery. Age at diagnosis ranged from birth to 15 years, and age at surgery ranged from 0 to 44 years; post-surgical corrected visual acuity varied from 20/20 to 20/70 in the better eye.
Mapping
Ionides et al. (1997) mapped autosomal dominant posterior polar cataract (symbolized CPP by them) to chromosome 1p on the basis of studies in a single family. Significantly positive lod scores were obtained for markers D1S508 and D1S468; multipoint analysis gave a maximum lod score of 3.48 (theta = 0.07) between markers D1S508 and D1S468. From haplotype data, however, Ionides et al. (1997) concluded that the CPP locus probably lies in the telomeric interval 1pter-D1S2845, which includes the locus for the clinically distinct Volkmann congenital cataract (CCV; 115665).
In a 6-generation Tasmanian family segregating autosomal dominant congenital total cataract, previously studied by Burdon et al. (2004) and found to be negative for mutation in 5 known crystallin genes, McKay et al. (2005) performed linkage analysis using microsatellite markers across the known cataract loci and obtained 2-point lod scores of 4.21 and 3.23 for D1S507 and D1S2644 (theta = 0.0), respectively, at the telomere of chromosome 1p. Multipoint analysis yielded maximum location and lod scores of 5.61 and 5.44, respectively. Recombination in 2 affected individuals defined a 6-Mb critical region, between centromeric marker D1S199 and telomeric marker D1S228, that contains 30 named genes, of which 18 are known to be expressed in the eye. McKay et al. (2005) noted that this region is 6 Mb telomeric to that defined by Eiberg et al. (1995) for CCV and concluded that there are at least 2 genes predisposing to ADCC on the telomeric region of chromosome 1p.
Shiels et al. (2008) performed genomewide linkage analysis in a 4-generation Caucasian family with autosomal dominant posterior polar cataracts and obtained a parametric multipoint lod score of 3.3 on chromosome 1p; haplotype analysis defined an approximately 10-Mb common disease interval between rs707455 and rs477558 on 1p36 that cosegregated with disease in all 12 affected individuals. Genotyping of all 18 family members with simple tandem repeat (STR) markers confirmed that the cataract locus resides in an approximately 12-Mb interval between D1S214 and D1S2644, coincident with the SNP interval on 1p36.
Shiels et al. (2008) performed candidate-gene association analysis in a case-control cohort with age-related nuclear and cortical cataracts and found suggestive association with SNPs in the EPHA2 region of chromosome 1p (p less than 0.007 at rs11260867 for cortical cataracts and p less than 0.01 at rs7543472 for cortical and/or nuclear cataracts).
Zhang et al. (2009) performed 2-point linkage analysis in a 5-generation Han Chinese family segregating autosomal dominant posterior polar congenital cataract and obtained a maximum lod score of 3.61 (theta = 0.0) at D1S552 on chromosome 1p36. Haplotype analysis together with published data from the Australian family studied by McKay et al. (2005) reduced the critical region to a 4-Mb interval between markers D1S436 and D1S199.
Jun et al. (2009) identified families from the Beaver Dam Eye Study (BDES, performed in the population of Beaver Dam, Wisconsin) with linkage to markers on chromosome 1p36 (Iyengar et al., 2004) and resequenced the EPHA2 gene in 34 individuals. Of the 13 EPHA2 variants discovered or confirmed, 4 were genotyped in 1,401 individuals from 494 BDES families, and a nonsynonymous variant (R721Q; 176946.0005) demonstrated the strongest association (p = 2 x 10(-8) for cortical cataract, p = 8 x 10(-5) for severe cortical cataract). Jun et al. (2009) then genotyped those 4 SNPs and 15 additional SNPs covering at least 90% of the EPHA2 gene in the BDES families and 2 more Caucasian populations (185 individuals from 172 families in the United Kingdom Twin Eye Study, and 1,470 unrelated individuals in the Australian Blue Mountains Eye Study), and found that the EPHA2 gene contains at least 2 relatively independent blocks of linkage disequilibrium, one at the 5-prime end and another at the 3-prime end. Single SNP association, haplotype association, and metaanalysis consistently demonstrated 2 independent association signals present in the 3-prime (rs7548209 and rs3754334) and the 5-prime (rs3768293, rs6603867, and rs6678616) regions of the gene, with rs6678616 showing the strongest association with age-related cortical cataract (combined p = 10(-4)).
Molecular Genetics
In a 4-generation Caucasian family with autosomal dominant posterior polar cataracts mapping to chromosome 1p36, Shiels et al. (2008) identified a heterozygous missense mutation in the EPHA2 gene (G948W; 176946.0001) that was not found in 192 controls. Candidate-gene association analysis in a case-control cohort with age-related cortical and nuclear cataracts showed suggestive association with SNPs in the EPHA2 region of chromosome 1p (p less than 0.007 at rs11260867 for cortical cataracts and p less than 0.01 at rs7543472 for cortical and/or nuclear cataracts).
In a 5-generation Han Chinese family segregating autosomal dominant posterior polar congenital cataract mapping to 1p36, Zhang et al. (2009) identified a heterozygous mutation in the EPHA2 gene (T940I; 176946.0002) that was present in all 7 affected family members but not detected in 6 unaffected family members or 202 unrelated Chinese controls. Zhang et al. (2009) then sequenced the EPHA2 gene in the British and Australian families with autosomal dominant cataract mapping to 1p, previously studied by Ionides et al. (1997) and McKay et al. (2005), respectively, and identified a heterozygous 2-bp deletion (176946.0003) and splice site mutation (176946.0004), respectively.
In a large family with age-related cortical cataract, Jun et al. (2009) sequenced the EPHA2 gene and found that a nonsynonymous variant, R721Q (176946.0005), cosegregated with the phenotype. The frequency of the rare 'A' allele in 3 independent Caucasian study populations from the United States, United Kingdom, and Australia was 0.6%, 0%, and 0.2%, respectively; the authors stated that 0.1% to 0.2% probably represents a true population estimate for this rare variant. The risk allele had 78% penetrance in heterozygous individuals whose age was 70 years or more. Functional analysis demonstrated that R721Q significantly alters EPHA2 signaling and cellular regulation in vitro.
Eyes \- Posterior polar cataract \- Congenital cataract \- Total cataract \- Choroideremia \- Myopia 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
|
CATARACT 6, MULTIPLE TYPES
|
c1861825
| 27,920 |
omim
|
https://www.omim.org/entry/116600
| 2019-09-22T16:43:37 |
{"doid": ["0110229"], "mesh": ["C535339"], "omim": ["116600"], "icd-10": ["Q12.0"], "orphanet": ["91492"], "synonyms": ["Alternative titles", "CATARACT, POSTERIOR POLAR, 1", "CATARACT, AGE-RELATED CORTICAL, 2"]}
|
A number sign (#) is used with this entry because of evidence that Bruck syndrome-1 (BRKS1) is caused by homozygous mutation in the FKBP10 gene (607063) on chromosome 17q21.
Description
Bruck syndrome is characterized by congenital contractures with pterygia, onset of fractures in infancy or early childhood, postnatal short stature, severe limb deformity, and progressive scoliosis (McPherson and Clemens, 1997).
### Genetic Heterogeneity of Bruck Syndrome
Bruck syndrome-2 (609220) is caused by homozygous mutation in the PLOD2 gene (601865) on chromosome 3q24. Van der Slot et al. (2003) stated that they were unaware of any phenotypic differences between the 2 forms of Bruck syndrome.
Clinical Features
Petajan et al. (1969) described an arthrogryposis-like syndrome in the Eskimo, which they called Kuskokwim disease for the Kuskokwim Delta area where it was observed. Multiple joint contractures affected predominantly the knees and ankles with atrophy and compensatory hypertrophy of associated muscle groups. Barnes et al. (2013) described the clinical features of 5 probands with Kuskokwim disease from 3 Kuskokwim pedigrees. Affected individuals had contractures of variable severity as well as variable skeletal manifestations, including osteopenia, scoliosis, lordosis, short stature, and low energy fractures.
Viljoen et al. (1989) described 5 children from 3 unrelated families who were born with symmetrical contractures of the knees, ankles, and feet. An initial diagnosis of arthrogryposis multiplex was made because of fractures following trivial trauma and wormian bones in skull radiographs. The sclerae and teeth were normal. One family contained 2 affected brothers and an affected sister. Of the 3 pairs of parents, all were nonconsanguineous. Viljoen et al. (1989) concluded that this disorder was reported in a single male by Bruck (1897) and therefore suggested that the disorder be called Bruck syndrome. Steinmann (1993) pointed out, however, that Bruck's patient had different progressive bone changes and secondary joint contractures occurring later than those in the patients of Viljoen et al. (1989). Webbing (pterygia) was present at the elbow and knee in the patients of Viljoen et al. (1989), supporting the view that lack of movement of the affected joints was present during embryologic development, possibly as early as the seventh week of gestation.
Sharma and Anand (1964) reported an Indian boy with features of osteogenesis imperfecta and arthrogryposis multiplex congenita affecting the knee and ankle joints, plus bilateral talipes equinovarus. This child had blue sclerae.
Brenner et al. (1993) described a male patient with osteogenesis imperfecta who was born with contractures of the knee, elbow, and ankle joints. During the first 4 years he suffered from recurrent fractures. He had white sclerae, mild dentinogenesis imperfecta, multiple wormian bones, severe scoliosis, and short stature. Collagen fibrils of the osteoid had a varying diameter, a feature not found in typical osteogenesis imperfecta patients. Analysis of compact bone showed that the size of apatite crystals and the extractability of collagen with pepsin were markedly elevated compared to controls and patients with osteogenesis imperfecta type III (259420) or IV (166220).
McPherson and Clemens (1997) described a male patient who was born with flexion contractures and pterygia at the elbows, clubfeet, torticollis, and several rib fractures. During infancy and childhood, multiple fractures of the lower limbs occurred with minimal trauma and led to disabling deformities. When evaluated at age 19 years, he was normally intelligent, but very short, with severe kyphoscoliosis compromising pulmonary function. Pterygia limited elbow extension to 90 degrees, and severe lower limb deformities prevented walking. He did not have blue sclerae, dentinogenesis imperfecta, or hearing loss. X-ray studies showed demineralized bones, severe deformity, and cystic change at old fracture sites, as well as vertebral wedging. He died at age 21 of restrictive lung disease.
Breslau-Siderius et al. (1998) reported a family in which 3 children of first-cousin Kurdish parents had Bruck syndrome. The 12-year-old proposita had severe contractures of the knee and ankle without reports of bone fractures, kyphosis, scoliosis, popliteal webbing, and local hypermobility in the wrists and fingers. Her 7-year-old sister had recurrent fractures of the femurs, local hypermobility in the wrist and finger joints, severe contractures at the hips, knees, and ankles, scoliosis, and kyphosis. Her 2-year-old brother had contractures of the hips and right knee, and there was no webbing.
Shaheen et al. (2010) described 2 brothers with Bruck syndrome. As a neonate, the index patient had severe flexion deformity of knees, ankles, and, to a lesser extent, elbows. At age 7 months, he had a fracture of the femur as a result of trivial trauma, followed by multiple other long bone fractures in early childhood. He had normal appearance of the sclera and teeth. At the age of 9 years, he was still unable to walk but had normal use of his hands. His radiologic features consisted of evidence of old healed fractures, severe flexion deformities of knees and ankles, wormian bones, and generalized osteopenia. His similarly affected 13-year-old brother had frequent fractures and multiple joint contractures. Both children were treated with parenteral bisphosphonate, which reduced fracture frequency.
Biochemical Features
Bank et al. (1999) showed that collagen in bone and collagen synthesized by cultured skin fibroblasts in patients with Bruck syndrome showed none of the changes commonly found in osteogenesis imperfecta. They reported that the molecular defect underlying Bruck syndrome is a deficiency of bone-specific telopeptide lysyl hydroxylase, which results in aberrant crosslinking of bone collagen. Bank et al. (1999) found that lysine residues within the telopeptides of type I collagen (see 120150) in bone are underhydroxylated, leading to aberrant crosslinking, but that the lysine residues in the triple helix are normally modified. In contrast to bone, cartilage and ligament showed unaltered telopeptide hydroxylation in Bruck syndrome, as evidenced by normal patterns of crosslinking. The results provided evidence that collagen crosslinking is regulated primarily by tissue-specific enzymes that hydroxylate only telopeptide lysine residues and not those destined for the helical portion of the molecule.
In individuals with the FKBP10 Tyr293del mutation (607063.0012), Barnes et al. (2013) found that FKBP10 transcripts are normal, whereas the mutant FKBP65 is destabilized to a residual 5%. Collagen synthesized by Tyr293del fibroblasts has substantially decreased hydroxylation of the telopeptide lysine crucial for collagen crosslinking, with 2 to 10% hydroxylation in probands versus 60% in controls. The matrix deposited by the affected fibroblasts has marked reduction in maturely crosslinked collagen. Collagen is disorganized in matrix, and fibrils formed in vitro had subtle loosening of monomer packing.
Inheritance
The transmission pattern of Kuskokwim disease in the families reported by Petajan et al. (1969) strongly suggested autosomal recessive inheritance.
Shaheen et al. (2010) showed that Bruck syndrome is an autosomal recessive disorder.
Mapping
By genomewide SNP analysis of 2 brothers with Bruck syndrome, Shaheen et al. (2010) identified a region of apparent homozygous overlap on chromosome 17q21.
Molecular Genetics
In 2 brothers with Bruck syndrome, Shaheen et al. (2010) identified a homozygous 8-bp insertion in the FKBP10 gene (607063.0003). They suggested that their patients and the patients reported by Alanay et al. (2010) with osteogenesis imperfecta may both have had Bruck syndrome and that bisphosphonate therapy may explain the less severe phenotype in their patients. In response to Shaheen et al. (2010), Alanay and Krakow (2010) noted that a wide phenotypic range of severity can result from different mutations in the same gene and suggested that the disorder caused by mutation in the FKBP10 gene be categorized as a recessive form of progressive deforming OI with or without joint contractures.
Kelley et al. (2011) sequenced the FKBP10 gene in 6 individuals from 5 families with a moderately severe OI phenotype, 4 with joint contractures, including the patient reported by Viljoen et al. (1989), and 1 (patient 2) without congenital joint contractures, and identified homozygous or compound heterozygous mutations in all. In 2 sibs, one with and one without contractures, they identified homozygosity for a previously identified frameshift mutation (607063.0002).
Shaheen et al. (2011) described a consanguineous Saudi family with Bruck syndrome in which 3 sisters and 2 male cousins had the same novel mutation in the FKBP10 gene (743dupC; 607063.0007). Four of those affected did not have contractures; the fifth had abnormal skin folds at the popliteal area that caused flexion contractures of the knees, which were noticed at birth, and he later had frequent fractures.
Puig-Hervas et al. (2012) screened for mutations in 6 consanguineous unrelated Egyptian families with Bruck syndrome and identified homozygous mutations in the FKBP10 gene in 2 families and in the PLOD2 gene (601865) in 4 families (see BRKS2; 609220). Two probands had the same insertion/deletion mutation in the FKBP10 gene (607063.0009).
Using homozygosity mapping, linkage analysis, and Sanger sequencing, Barnes et al. (2013) identified a homozygous 3-bp deletion in exon 5 of the FKBP10 gene (c.877_879delTAC; Tyr293del; 607063.0012) in multiple Kuskokwim pedigrees affected with Kuskokwim disease. Three percent (3/96 alleles) of controls from the region were shown to be carriers of the Tyr293del variant.
History
McPherson and Clemens (1997) stated that the patient described by Bruck (1897) apparently did not have congenital contractures and may have had a different condition. Ha-Vinh et al. (2004) also suggested that the designation 'Bruck syndrome' proposed by Viljoen et al. (1989) is a misnomer for the same reason.
Using a mapping approach based on homozygosity by descent in a consanguineous family with Bruck syndrome reported by Breslau-Siderius et al. (1998), Bank et al. (1999) found evidence that the locus responsible for Bruck syndrome maps to an 18-cM interval on 17p12. This family was later found to have a mutation in the FKBP10 gene (607063.0006) on chromosome 17q.
INHERITANCE \- Autosomal recessive GROWTH Height \- Short stature HEAD & NECK Ears \- Normal hearing Eyes \- Normal sclerae Teeth \- Normal teeth CHEST Ribs Sternum Clavicles & Scapulae \- Pectus carinatum SKELETAL \- Osteoporosis \- Bone fragility \- Joint contractures, congenital (knee, ankle, hip, elbow) \- Joint laxity (fingers and wrist) Spine \- Kyphosis \- Scoliosis \- Flattened vertebral bodies \- Vertebral wedging Pelvis \- Protrusio acetabuli \- Coxa vara Feet \- Talipes equinovarus SKIN, NAILS, & HAIR Skin \- Pterygia (knees and elbows) MISCELLANEOUS \- Onset of fractures in infancy to early childhood MOLECULAR BASIS \- Caused by mutation in the FK506-binding protein 10 gene (FKBP10, 607093.0002 ) ▲ 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
|
BRUCK SYNDROME 1
|
c1859709
| 27,921 |
omim
|
https://www.omim.org/entry/259450
| 2019-09-22T16:23:53 |
{"doid": ["0060231"], "mesh": ["C538124"], "omim": ["259450"], "orphanet": ["1149", "2771"], "synonyms": ["Alternative titles", "KUSKOKWIM DISEASE", "ARTHROGRYPOSIS-LIKE DISORDER"]}
|
Oscillopsia is a visual disturbance in which objects in the visual field appear to oscillate. The severity of the effect may range from a mild blurring to rapid and periodic jumping.[1] Oscillopsia is an incapacitating condition experienced by many patients with neurological disorders.[2] It may be the result of ocular instability occurring after the oculomotor system is affected, no longer holding images steady on the retina. A change in the magnitude of the vestibulo-ocular reflex due to vestibular disease can also lead to oscillopsia during rapid head movements.[3] Oscillopsia may also be caused by involuntary eye movements such as nystagmus, or impaired coordination in the visual cortex (especially due to toxins) and is one of the symptoms of superior canal dehiscence syndrome. Sufferers may experience dizziness and nausea. Oscillopsia can also be used as a quantitative test to document aminoglycoside toxicity. Permanent oscillopsia can arise from an impairment of the ocular system that serves to maintain ocular stability.[4] Paroxysmal oscillopsia can be due to an abnormal hyperactivity in the peripheral ocular or vestibular system.[4]
## Permanent oscillopsia due to impairment of the ocular stabilizing systems[edit]
Ocular stability is maintained by three different ocular motor systems
1. The fixation system[4]
2. The visuo-vestibular stabilizing system[4]
3. Neural integrator[4]
1\. The fixation system and its deficit
* In the fixation system, the ocular motor noise that comes from microsaccades, microtremors and slow drifts (all necessary for important perceptual functions) are limited by the visual and cerebellar ocular motor feedback loops. The frontal basal ganglia and cerebellar network also helps to provide correct saccades and inhibit unwanted saccades for fixation.[4]
* A deficit in this fixation system results in ocular instability that mainly leads to acquired pendular nystagmus and saccadic intrusions. Acquired pendular nystagmus is seen in a variety of conditions with the two most frequent being multiple sclerosis and oculopalatal tremor.[4]
2\. The visuo-vestibular stabilizing systems and their deficits
* The vestibular and visual ocular stabilizing systems interact together in order to maintain the image of the visual scene steady on the retina during a head and body displacement situation.[4]
* A deficit in these vestibular or visual ocular stabilizing systems may result in ocular instability due to pathological jerk nystagmus. The vestibulo-ocular reflex deficit (especially when bilateral) and a deficit of vestibulo-ocular reflex inhibition can result in oscillopsia and impaired visual acuity during head and body displacement.[4]
3\. The neural integrator and its deficit
* The neural integrator helps to maintain a constant innervation of extra-ocular eye muscles to avoid backward drift of the eyes.[4]
* A deficit in the neural integrator can result in gaze-evoked nystagmus and oscillopsia in the eccentric eye position.[4]
## References[edit]
1. ^ Gold, Daniel. "Oscillopsia: a common symptom of bilateral vestibular loss". Neuro-Ophthalmology Virtual Education Library(NOVEL, NOVEL.utah.edu): Daniel Gold Collection. Spencer S. Eccles Health Sciences Library. Retrieved 2019-11-20.
2. ^ Tilikete, Caroline; Vighetto, Alain (February 2011). "Oscillopsia". Current Opinion in Neurology. 24 (1): 38–43. doi:10.1097/WCO.0b013e328341e3b5. PMID 21102332.
3. ^ Straube, A.; Leigh, R. J.; Bronstein, A.; Heide, W.; Riordan-Eva, P.; Tijssen, C. C.; Dehaene, I.; Straumann, D. (2004). "EFNS task force - therapy of nystagmus and oscillopsia" (PDF). European Journal of Neurology. 11: 83–89. doi:10.1046/j.1468-1331.2003.00754.x. Retrieved 6 May 2012.
4. ^ a b c d e f g h i j k Tilikete, Caroline; Vighetto, Alain (February 2011). "Oscillopsia : Causes and Management". Current Opinion in Neurology. 24 (1): 38–43. doi:10.1097/WCO.0b013e328341e3b5. PMID 21102332.
## External links[edit]
* Fuzzy Vision
* Oscillopsia Video : First person experience of Oscillopsia
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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
|
Oscillopsia
|
c0422980
| 27,922 |
wikipedia
|
https://en.wikipedia.org/wiki/Oscillopsia
| 2021-01-18T18:49:34 |
{"umls": ["C0422980"], "wikidata": ["Q2036597"]}
|
Neonatal brainstem dysfunction is a rare neurologic disease characterized by the association of suction-swallowing dysfunction, abnormal laryngeal sensitivity and motility (manifesting with dyspnea or obstructive apnea-hypopnea), gastroesophageal reflux (generally resistant to medication) and cardiac vagal overactivity (e.g. brachycardia, vasovagal episodes) of varying degrees of severity. Impaired social interaction has also 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
|
Neonatal brainstem dysfunction
|
None
| 27,923 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=137929
| 2021-01-23T18:18:46 |
{}
|
Intellectual disability, Wolff type is a rare intellectual disability syndrome characterized by severe intellectual disability, characteristic facial features (low anterior hairline, upward slanting palpebral fissures, ocular hypertelorism, broad, bulbous nose, large ears with helix incompletely developed, thick lips, and micrognathia) and additional anomalies including peripheral joint contractures, delayed skeletal maturation, bilateral cleft lip and palate, strabismus, terminal hypoplasia of fingers, hypospadias, and bilateral inguinal hernias.
*[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
|
Intellectual disability, Wolff type
|
c1848439
| 27,924 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3080
| 2021-01-23T17:37:30 |
{"gard": ["3530"], "mesh": ["C537448"], "omim": ["277990"], "umls": ["C1848439"], "icd-10": ["Q87.0"], "synonyms": ["Wolff-Zimmermann syndrome"]}
|
## Clinical Features
In 3 children with congenital ichthyosis and recurrent infections with Trichophyton rubrum, Miller et al. (1973) identified an abnormality of neutrophil movement. Numbers, morphology, and phagocytic and bactericidal activities were normal. Although random mobility was normal, chemotaxis of leukocytes from the patients and their fathers was deficient. (In the 'lazy leukocyte syndrome' (150550), random movement is also defective.) A girl in one family and a brother and sister in a second were affected. In each family the father showed the same defect of neutrophil movement. The father of the 2 affected sibs had been plagued by recurrent Trichophyton rubrum infections but did not have ichthyosis.
Jacobs and Norman (1977) found a cellular chemotactic defect in the neutrophils of both parents and 3 of 4 children who suffered from unusually severe bacterial eczema, asthma and recurrent bacterial skin infections, all starting in the first month of life. All affected members had HLA-B12; the normal child did not. The 2 most severely affected children were homozygous for HLA-B12.
Mapping
Ruutu et al. (1977) found an association between monosomy 7 (252270) and defective chemotaxis, suggesting that a gene for normal chemotactic or chemokinetic response of neutrophils may be located on that chromosome.
De la Chapelle et al. (1982) showed that the locomotion defect of granulocytes in monosomy 7 involves random locomotion, chemotaxis, and chemokinesis.
Immune \- Immunodeficiency Inheritance \- Autosomal dominant Skin \- Congenital ichthyosis ▲ 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
|
NEUTROPHIL MIGRATION
|
None
| 27,925 |
omim
|
https://www.omim.org/entry/162820
| 2019-09-22T16:37:24 |
{"omim": ["162820"], "synonyms": ["Alternative titles", "NEUTROPHIL CHEMOTACTIC RESPONSE"]}
|
A number sign (#) is used with this entry because neurocutaneous melanosis (NCMS) is caused by somatic mutation in the NRAS gene (164790) on chromosome 1p13.
Description
Neurocutaneous melanosis, or neuromelanosis, is characterized by the presence of melanin-producing cells within the brain parenchyma or leptomeninges, which may lead to clinically apparent neurologic signs and symptoms, such as seizures. Other neurologic abnormalities, including hydrocephalus, arachnoid cysts, tumors, and syringomyelia, may also occur. The disorder is a rare but severe manifestation of congenital melanocytic nevus syndrome (CMNS; 137550). Some patients with neurocutaneous melanosis or CMNS may develop malignant melanoma. The incidence of neurologic involvement, development of malignant melanoma, and death is significantly associated with the projected adult size of the largest congenital melanocytic nevus, particularly those greater than 40 cm (summary by Kinsler et al., 2008; Kinsler et al., 2013).
Clinical Features
Demirci et al. (1995) described the MRI appearance of the brain in 2 cases of neurocutaneous melanosis. This demonstrated intraparenchymal melanin deposits but no detectable leptomeningeal abnormality.
Foster et al. (2001) reported follow-up of 46 patients with giant congenital melanocytic nevi (137550), including 42 who underwent magnetic resonance imaging. MRI abnormalities were detected in 14 of 42 children, most of whom were under 12 months of age. Ten (23%) of the 14 had central nervous system melanosis; less common findings included arachnoid cyst, Chiari type I malformation, and tethered spinal cord, in 1 patient each. Clinical follow-up for an average of 5 years found that only 1 of 46 patients developed neurologic symptoms, including developmental delay, hypotonia, and possible seizures; this patient had neuromelanosis. None of the 46 patients developed a cutaneous or central nervous system melanoma. Neither the location nor the size of the nevus appeared to correlate with the presence or absence of MRI abnormalities. Foster et al. (2001) concluded that central nervous system melanosis is not a rare event in patients with giant congenital melanocytic nevi, but that most patients with abnormal findings remain asymptomatic.
Kinsler et al. (2008) performed a retrospective study of 120 patients with congenital melanocytic nevi referred to a dermatology clinic between 1991 and 2007 and who underwent central nervous system imaging. None had neurologic complications at the time of referral. The mean age at first MRI was 2.46 years. MRI abnormalities were found in 22 (18%) of patients and were significantly associated with projected adult size of the CMN, particularly greater than 40 cm. The most common finding was neuromelanosis, which was found in 15 patients. Rare findings included choroid plexus papilloma, hydrocephalus, astrocytoma, and posterior fossa arachnoid cyst. Thirteen patients developed neurologic symptoms, including seizures, hemiparesis, reduced muscle tone, spasticity, ataxia, and/or global developmental delay. Five patients with MRI abnormalities remained asymptomatic at a mean age of 3.7 years. In addition, 5 patients with normal brain imaging showed neurologic symptoms. Two of the 120 patients developed fatal malignant melanoma and 1 died of aggressive and proliferative leptomeningeal melanosis, yielding an overall death rate of 2.5%. There was no significant association between CMN distribution and adverse outcomes.
Ramaswamy et al. (2012) retrospectively reviewed 14 cases of neurocutaneous melanocytosis. Six patients had died, including 2 in early childhood, 3 in childhood, and 1 at age 28 years. All who died had diffuse leptomeningeal deposits in both the brain and spine. Five developed hydrocephalus with rapidly increasing intracranial pressure; 4 had leptomeningeal melanoma. The most common site for melanocytic deposits was the temporal lobe. The living patients were between 1 and 7 years of age. Only 1 patient had normal brain imaging, but she had focal temporal epilepsy. Three patients with multifocal melanocytic deposits were asymptomatic, and 1 patient with deposits and a spinal arachnoid cyst was asymptomatic. One patient had multifocal melanocytic deposits, seizures, and severe developmental delay. Two additional patients with multifocal deposits and spinal cysts had seizures, including 1 with developmental delay. Ramaswamy et al. (2012) concluded that patients with neurocutaneous melanocytosis can have a wide range of intracranial and intraspinal abnormalities as well as highly variable clinical outcomes.
Kinsler et al. (2013) studied tissue samples from 15 unrelated patients with congenital melanocytic nevi who ranged in age from 2 to 23 years. Routine brain imaging in the first year of life showed 7 patients with parenchymal neuromelanosis, 1 with frontal lobe meningioma, and 5 with normal findings. However, 1 patient with initial normal findings later developed leptomeningeal melanocytosis, and another later developed hydrocephalus associated with a choroid plexus papilloma. Three patients had significant neurologic findings, such as developmental delay and seizures, although 2 had spinal cord compression and 2 had increased intracranial pressure.
Inheritance
Ferris et al. (1987) described a patient with neurocutaneous melanosis and suggested that the segmental distribution, sporadic nature, and invariable discordance in identical twins for the occurrence of giant hairy nevi is consistent with the hypothesis that the disease is a consequence of one or more somatic mutations which would result in prenatal lethality if they occurred in the germline cells.
Molecular Genetics
Kinsler et al. (2013) identified somatic oncogenic missense mutations affecting codon 61 of the NRAS gene in affected cutaneous and neurologic tissues from 12 of 15 patients with congenital melanocytic nevus syndrome and/or neurocutaneous melanosis. Affected skin samples from 10 of 13 patients carried a somatic heterozygous mutation, including 8 with Q61K (164790.0008) and 2 with Q61R (164790.0002). The same codon 61 mutation was found in each of the anatomically separate melanocytic nevi from the same patient. In addition, all 11 neurologic samples from 5 patients from whom neurologic tissue was available were positive for a somatic Q61K mutation; this included both melanocytic and nonmelanocytic tissue, such as a choroid plexus papilloma and meningioma. In patients with both neurologic and skin samples available, the same mutation was present in both affected tissues. None of the patients carried an NRAS mutation in the blood. Pre- and post-malignant skin tissue was available from a patient with malignant melanoma, which showed a progression from heterozygosity to homozygosity for the Q61K mutation with the onset of malignancy. Mutations at codon 61 in the NRAS gene affect the guanosine triphosphate-binding site and result in constitutive activation of NRAS. Kinsler et al. (2013) concluded that multiple congenital melanocytic nevi and neuromelanosis, as well as nonmelanocytic CNS lesions, result from somatic mosaicism, and that the mutation probably occurs in a progenitor cell in the developing neural crest or neuroectoderm. The findings also suggested that these mutations may be lethal in the germline. Three of the original 15 patients with CMNS did not have NRAS mutations.
INHERITANCE \- Somatic mutation SKIN, NAILS, & HAIR Skin \- Numerous congenital melanocytic nevi \- Giant pigmented nevi, often in lumbosacral region NEUROLOGIC Central Nervous System \- Parenchymal neuromelanosis \- Dandy-Walker malformation (in some patients) \- Delayed development (in some patients) \- Seizures (in some patients) \- Hydrocephalus (in some patients) \- Leptomeningeal melanocytosis (in some patients) \- Choroid plexus papilloma (in some patients) \- Meningioma (in some patients) \- Spinal cysts (in some patients) \- Arachnoid cysts (in some patients) \- Syringomyelia (in some patients) NEOPLASIA \- Susceptibility to malignant melanoma MISCELLANEOUS \- Onset in first years of life \- Some patient may be asymptomatic MOLECULAR BASIS \- Caused by somatic mutation in the NRAS proto-oncogene gene, GTPase gene (NRAS, 164790.0002 ) ▲ 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
|
MELANOSIS, NEUROCUTANEOUS
|
c0544862
| 27,926 |
omim
|
https://www.omim.org/entry/249400
| 2019-09-22T16:25:29 |
{"mesh": ["C537387"], "omim": ["249400"], "orphanet": ["2481"], "synonyms": ["Alternative titles", "NEUROMELANOSIS"]}
|
A group of human prion diseases characterized by progressive, invariably fatal neurodegeneration resulting from accidental transmission of prions. The group comprises iatrogenic Creutzfeldt-Jakob disease (CJD), which results from transmission of CJD prions in the course of medical procedures or treatments, and variant CJD (transmission via consumption of products from prion-diseased cows or via blood transfusion from an affected individual).
*[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
|
Acquired Creutzfeldt-Jakob disease
|
c0022336
| 27,927 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=454700
| 2021-01-23T18:52:40 |
{"mesh": ["D007562"], "omim": ["123400"], "icd-10": ["A81.0"]}
|
MOMO syndrome is a very rare genetic overgrowth/obesity syndrome (see this term) characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype.
*[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
|
MOMO syndrome
|
c1834759
| 27,928 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2563
| 2021-01-23T18:28:33 |
{"gard": ["178"], "mesh": ["C535812"], "omim": ["157980"], "umls": ["C1834759"], "icd-10": ["Q87.3"], "synonyms": ["Macrocephaly-obesity-mental disability-ocular abnormalities syndrome", "Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome"]}
|
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Integrative agnosia" – news · newspapers · books · scholar · JSTOR (July 2014) (Learn how and when to remove this template message)
Integrative agnosia
The highlighted region of the brain indicates the extrastriate cortex, which, when damaged, may lead to integrative agnosia.
Integrative agnosia is a sub-disease of agnosia, meaning the lack of integrating perceptual wholes within knowledge. Integrative agnosia can be assessed by several experimental tests such as the Efron shape test, which determines the specificity of the disease being Integrative. This disease is often caused by brain trauma, producing medial ventral lesions to the extrastriate cortex.[1] Affecting this region of the brain produces learning impairments: the inability to integrate parts such as spatial distances or producing visual images from short or long-term memory.[2]
## Contents
* 1 Symptoms
* 2 Causes
* 3 Diagnosis
* 4 Treatment
* 5 Research
* 5.1 Case study 1
* 5.2 Case study 2
* 6 References
## Symptoms[edit]
Symptoms generally include memory or learning impairments, with the inability to integrate parts coherently. There is a big range to the severity of this disease and often the symptoms that are shown in each patient vary as well. As ambiguous as the general symptoms may be, patients are often treated of their respective symptoms as they appear and how critical the conditions are.[2]
## Causes[edit]
Some of the causes of integrative agnosia include stroke, traumatic brain injury, Alzheimer's disease, an anoxic episode following myocardial infarction, and progressive multifocal leukoencephalopathy.[1]
## Diagnosis[edit]
Cases with integrative agnosia appear to have medial ventral lesions in the extrastriate cortex. Those who have integrative agnosia are better able to identify inanimate than animate items, which indicates processes that lead to accurate perceptual organization of visual information can be impaired. This is attributed to the importance of perceptual updating of stored visual knowledge, which is particularly important for classes of stimuli that have many perceptual neighbors and/or stimuli for which perceptual features are central to their stored representations. Patients also show a tendency to process visual stimuli initially at a global rather than local level.[1] Although the grouping of local elements into perceptual wholes can be impaired, patients can remain sensitive to holistic visual representations.[2]
When determining whether a patient has form agnosia or integrative agnosia, an Efron shape test can be performed. A poor score on the Efron shape test will indicate form agnosia, as opposed to integrative agnosia. A good score on the Efron shape test, but a poor score on a figure-ground segmentation test and an overlapping figures test will indicate integrative agnosia. A patient with integrative agnosia will find it hard to group and segment shapes, especially if there are overlapping animate items or they can over segment objects with high internal detail. However, the patient should have and understand basic coding of shape.[1]
## Treatment[edit]
One treatment thought to be effective is the repeated exposure to a particular face or object, where impaired perception may be reorganized in memory, leading to improvement on tests of imagery relative to tests of perception. The key factor for this type of treatment to be successful is a regular and consistent exposure, which will lead to improvements in the long run. Results may not be seen right away, but are eventually possible.[2]
## Research[edit]
### Case study 1[edit]
A case study on a patient named H.J.A. is discussed and analyzed by M. Jane Riddoch and Glyn W Humphreys. Because this case study is done specifically on the symptoms of one person diagnosed with integrative agnosia, generalizations cannot be made directly from the results and conclusions about the disease as a whole about those who are also diagnosed with this disease.[3]
Like many people who are diagnosed with integrative agnosia, H.J.A. was diagnosed with this disease after suffering a stroke during a surgical procedure in an operating room. The patient underwent several experiments to verify the specific type of agnosia. H.J.A. showed top half visual deficits of the entire visual field in both right and left eyes. Lower visual fields showed normal patterns to the stimulus.[3]
Through the first experiment, the patient showed that tactile presentation of an object helped H.J.A. significantly in identifying an object. When the object was presented only visually, the patient struggled and showed difficulty. Objects used were common everyday objects. The patient always used descriptive terminology to identify an object instead of a single word or term. However, H.J.A. showed an ability to copy objects and match two objects, both pictures and physical objects.[3]
The second experiment showed that H.J.A. was able to identify figures better when presented the silhouette. Other patients with integrative agnosia also tend to show this symptom. The patient lacks local information of the figures to support the global information, which explains the lack of confidence in naming the object. H.J.A. also shows trouble discriminating figures that are significant and others that are meaningless stimuli. This, in turn, can explain why the patient cannot distinguish overlapping figures.[3]
The third experiment showed that the patient was able to give important information about an object, even though, previously, could not identify the object visually. The memory of the patient is intact despite visual deficits. In the fourth and final section of experiments, the patient shows a lack of visual color knowledge, but structures of a given specific object is not impaired, as H.J.A. uses the technique of drawing from memories. This shows that the patient's visual perceptions and memories containing prior knowledge are not altered by integrative agnosia following the stroke.[3]
### Case study 2[edit]
In a second case study also performed by the M. Jane Riddoch and Glyn W. Humphreys, H.J.A was the subject in this case study to determine the effects integrative agnosia has on visual and spatial short-term memory.
In the first group of experiments, Riddoch and Humphreys tested the patient's visual, spatial, and perceptual capabilities. They first asked him draw his bedroom using his visual capabilities, comparing it to his drawing from memory, rather than visual, at a specific date. They repeated this test again one year later. His results showed that patients with integrative agnosia have problems in accurately recalling spatial information from long-term memory. In addition, H.J.A was asked to assess spatial locations of cities he was familiar with before his stroke. The evidence of his inability to assess the spatial distances supported the correct diagnosis of integrative agnosia.[2]
When H.J.A was asked to compare images of human faces, he was able to point out specific facial features. However, when asked to make side-by-side comparisons of several celebrities' faces, he was unable to make the same comparisons a person without Integrative Agnosia are able to by integrating features into a perceptual representation. On the other hand, the patient did well when asked to determine the angle degrees of the hands of a clock. But because the patient had to simply make a global judgment based on the hands of the clock, there were not any judgments made based on the perception of local parts, such as the comparison of features of a face for example.[2]
In the second group of experiments, the patient, H.J.A, was tested on his ability to manipulate images, assess information using his spatial memory, and complete pattern tasks.
The patient performed a series of tasks such as the Moscovitch Letter Manipulation Task, the Brooks Matrix Task, and a Compass Directions Task. The patient proved able to receive the spatial material well with short-term memory when manipulating materials without a reference frame. The patient was still able to make global processes, identify shapes, single lines, and letters, but lacked the ability to process configurations in perceptual representations, in the respective tasks. When visually holding an image for 10 seconds, the patient was able to process a spatial pattern and transfer that image onto paper accurately. The tasks that H.J.A were given showed where the parts specifically failed to integrate: the patent's perception on spatial elements without a point of reference. With a reference point, H.J.A is able to integrate the parts.[2]
In the last set of experiments, H.J.A is being tested on his ability to reproduce a visual stimuli and reproduce possible and impossible figures. Evidence suggested that the patient had an ability again maintain the global information in order to draw items, and reiterated his difficulty in maintaining local elements and spatial relations. The last experiment (Experiment 11) was the most difficult for H.J.A visually. He was significantly impaired in drawing the impossible figures provided and spent a significant amount of time more than the control, the elderly population, used in this experiment, processing the information to be able to transform them onto paper. The patient demonstrated a lack of representation of all local parts when reproducing the image.[2]
It was concluded that the tasks performed well by H.J.A included the tasks involving ranges of imagery-based tasks, accurately make judgments about global representations such as the angles of a clock, maintained visual patterns over inter-stimulus intervals, mentally rotating letters, manipulating two elements of an image. In contrast, impairment was gauged to be the lack of the ability in recalling spatial layouts, judging spatial directions, judging relative positions of objects, The Brooks Matrix Test, Compass Direction Task, reproducing abstract patterns, and reproducing both possible and impossible figures. Due to the impairment, it was identified that the patient did not have intact imagery and visual short-term memory, made apparent by the spatial relations test. Due to Integrative Agnosia, the patients take information from a top-down manner, using stored knowledge to retrieve an objects perceptual properties. It is much more difficult for patients to use a bottom-up method, or perceiving through a visual stimulus, because of the inability to accurately code the patterns in the visual short-term memory.[2]
## References[edit]
1. ^ a b c d Riddoch, M.; Humphreys, G. W.; Akhtar, N; Allen, H; Bracewell, R.; Schofield, A. J. (2008). "A tale of two agnosias: Distinctions between form and integrative agnosia". Cognitive Neuropsychology. 25 (1): 56–92. doi:10.1080/02643290701848901. PMID 18340604.
2. ^ a b c d e f g h i Riddoch, M. Jane; Glyn W. Humphreys; William Blott; and Esther Hardy; Alistair D. Smith (Oct 2003). "Visual and Spatial Short-term Memory in Integrative Agnosia". Cognitive Neuropsychology. 20 (7): 641–671. doi:10.1080/02643290342000078. PMID 20957588.
3. ^ a b c d e Riddoch, M.; Humphreys, G. W. (1987). "A case of integrative visual agnosia". Brain. 110 (6): 1431–62. doi:10.1093/brain/110.6.1431. PMID 3427396.
*[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
|
Integrative agnosia
|
None
| 27,929 |
wikipedia
|
https://en.wikipedia.org/wiki/Integrative_agnosia
| 2021-01-18T18:37:08 |
{"wikidata": ["Q6043263"]}
|
An alcohol enema, also known colloquially as butt-chugging, is the act of introducing alcohol into the rectum and colon via the anus, i.e., as an enema. This method of alcohol consumption can be dangerous and even deadly because it leads to faster intoxication since the alcohol is absorbed directly into the bloodstream and bypasses the body's ability to reject the toxin by vomiting.
## Contents
* 1 Administration
* 2 Effects and dangers
* 3 Native American ritual usages
* 4 Incidents
* 5 References
## Administration[edit]
Two reported techniques specific to alcohol enemas are by inserting into the rectum either an alcohol-soaked tampon[1] or tubing connected to a funnel into which alcohol is poured,[2] known as a beer bong.
Enema bags of the sort used medically, e.g., to remedy constipation, are also employed.[3]
## Effects and dangers[edit]
An alcohol enema is a faster method of alcohol intoxication since the alcohol is absorbed directly into the bloodstream. The lower gastrointestinal tract lacks the alcohol dehydrogenase enzyme present in the stomach and liver that breaks down ethanol into acetylaldehyde, which is actually more toxic than ethanol (drinking alcohol) and is responsible for most chronic effects of ethanol. When rectally absorbed, ethanol will still eventually arrive at the liver, but the high alcohol content could overwhelm the organ. Additionally, consuming the alcohol rectally neutralizes the body's ability to reject the toxin by vomiting.[4]
## Native American ritual usages[edit]
The Maya ritually administered enemas of alcohol as an entheogen, sometimes adding other psychoactive substances, seeking to reach a state of ecstasy. Syringes of gourd and clay were used to inject the fluid.[5]
## Incidents[edit]
In May 2004, a 58-year-old man of Lake Jackson, Texas, died after his wife administered an alcohol enema of sherry. In total, the man is thought to have been given at least three liters of sherry (containing at least 45 cL alcohol). He suffered from alcoholism and had difficulty ingesting alcohol orally because of a painful throat ailment. His wife was indicted on a charge of negligent homicide.[6] In August 2007, prosecutors dropped the charges due to insufficient evidence.[7][8]
An enema bag filled with white wine and taken as a self-administered enema killed a 52-year-old man. He was found dead with the nozzle still inserted in his anus and connected to an enema bag that hung from a coat rack next to his bed.[3]
## References[edit]
1. ^ "Teens using vodka tampons to get drunk". KPHO-TV. 7 November 2011.
2. ^ Lovett, Edward; McNiff, Eamon (2012-09-21). "5 Shocking Ways Your Kids Try to Get Drunk". ABC News. Retrieved 2019-12-23.
3. ^ a b Thomas Peterson; Landen Rentmeester; Bryan S. Judge; Stephen D. Cohle & Jeffrey S. Jones (11 November 2014). "Case Report – Self-Administered Ethanol Enema Causing Accidental Death". Case Reports in Emergency Medicine. Hindawi Publishing Corporation. 2014: 191237. doi:10.1155/2014/191237. PMC 4243473. PMID 25436159.
4. ^ "Experts: Alcohol enemas 'extremely dangerous'". CNN. 26 September 2012.
5. ^ Carod-Artal, F.J. (2015). "Hallucinogenic drugs in pre-Columbian Mesoamerican cultures". Neurología (English Edition). 30: 42–49. doi:10.1016/j.nrleng.2011.07.010.
6. ^ "Woman accused of giving husband lethal sherry enema". Houston Chronicle. 2 February 2005.
7. ^ "Charges dropped in sherry-enema death". Houston Chronicle. 4 October 2007.
8. ^ "Charges dismissed in Texas sherry enema death". Reuters. 3 October 2007.
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* 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
|
Alcohol enema
|
None
| 27,930 |
wikipedia
|
https://en.wikipedia.org/wiki/Alcohol_enema
| 2021-01-18T18:49:38 |
{"wikidata": ["Q15847787"]}
|
A rare, genetic dysostosis malformation syndrome characterized by skeletal dysplasia (rabbit ear-shaped iliac alae, delayed bone age, abnormalities of the vertebral bodies and schisis of the vertebral arches), seizures, short stature, cerebral atrophy and moderate to severe intellectual disability. Additional variable manifestations include corneal and retinal abnormalities, cataract, prognathism, dental malocclusion, brachydactyly, clinodactily, slight generalized hypotonia and hyper extensible joints.
*[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
|
Skeletal dysplasia-epilepsy-short stature syndrome
|
c0796046
| 27,931 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1858
| 2021-01-23T17:47:20 |
{"gard": ["350"], "mesh": ["C537625"], "omim": ["601187"], "umls": ["C0796046"], "icd-10": ["Q87.5"], "synonyms": ["Gurrieri-Sammito-Bellussi syndrome"]}
|
Myopathy with extrapyramidal signs is a disorder characterized by early childhood onset of proximal muscle weakness (muscles closest to the body’s midline) and learning disabilities. The muscle weakness does not progress, but most patients develop progressive atypical involuntary muscle contractions that influence gait, movement, and posture (extrapyramidal signs) that may be disabling. Signs and symptoms are variable and include brief, repetitive, jerky and uncontrolled movements caused by muscle contractions (chorea), tremor, abnormal posturing, and involuntary repetitive movements of the mouth and face. Other symptoms may include uncoordinated movements (ataxia), a very small head (microcephaly), drooping of the eyelids, wasting of the eye nerve (optic atrophy), and axonal peripheral neuropathy. It is caused by changes (mutations) in the MICU1 gene and is inherited in an autosomal recessive pattern.
*[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
|
Myopathy with extrapyramidal signs
|
c3810285
| 27,932 |
gard
|
https://rarediseases.info.nih.gov/diseases/12978/myopathy-with-extrapyramidal-signs
| 2021-01-18T17:58:49 |
{"omim": ["615673"], "orphanet": ["401768"], "synonyms": ["Proximal myopathy with extrapyramidal signs"]}
|
Babesiosis is an infectious disease caused by protozoa of the genus Babesia and characterized by a febrile illness and hemolytic anemia but with manifestations ranging from an asymptomatic infection to a fulminating illness that can result in death.
## Epidemiology
The worldwide prevalence is unknown but it is most frequently reported in the U.S. In 2011, 1,124 cases were reported in the U.S. with 92% of those cases occurring in northeastern and upper midwestern states. Sporadic cases have also been reported in Europe, Asia, Africa, Australia and South America.
## Clinical description
Most immunocompetent patients experience mild to moderate illness or are asymptomatic. Symptoms usually begin 1-4 weeks after being bitten by an infected tick, or 1 week to 6 months after a transfusion with contaminated blood. The most common symptoms are fever (that can reach up to 40.9 °C and may be accompanied by splenomegaly), malaise and fatigue. Other common manifestations include chills, sweats, headache, myalgia, arthralgia, nonproductive cough, nausea, and anorexia. Less frequently, some may experience sore throat, photophobia, vomiting, weight loss and depression. Symptoms can last 1-2 weeks but fatigue may persist for several months. In the immunocompomised or the elderly, more severe and prolonged infections with relapses can occur that require hospital admission. B. divergens and B. duncani infections are generally severe and often occur in people who lack a spleen. Complications occur in about half of hospitalized patients and include disseminated intravascular coagulopathy and acute respiratory distress syndrome and less frequently liver, renal or congestive heart failure, coma and death.
## Etiology
Babesiosis is caused by infections with one of several Babesia species that infect humans, including: B. microti (most common, in the U.S.), B. duncani, B. divergens (most common in Europe), and B. venatorum. Most patients are infected by a bite from an infected nymphal Ixodes scapularis (in the U.S), or Ixodes ricinus (in Europe) tick during early summer to late fall. The parasite can also be transmitted to humans through transfusion of contaminated blood or blood products. A few cases of transplacental transmission have been reported.
## Diagnostic methods
Babesiosis should be considered in patients with an unexplained febrile illness who reside in or have recently traveled to a Babesia endemic area or who have received a blood transfusion within the previous 6 months. Laboratory tests usually reveal hemolytic anemia, thrombocytopenia and a normal or slightly decreased leukocyte count. Giemsa or Wright stains of blood smears identify the parasites within host erythrocytes that appear round, pear-shaped or oval with a blue cytoplasm with red chromatin. Polymerase chain reaction (PCR) can confirm diagnosis by detecting babesia DNA in a patient's blood. Serological testing can also be useful in confirming the diagnosis.
## Differential diagnosis
Differential diagnoses include other infectious diseases such as malaria, Lyme disease, ehrlichiosis, Rocky Mountain spotted fever, typhoid (see these terms) and infectious mononucleosis.
## Management and treatment
Treatment for mild to moderate babesiosis consists of the administration of antimicrobial agents, atovaquone and azithromycin, for 7-10 days. Oral quinine and intravenous clindamycin are recommended for those with a severe babesiosis, but patients must be more closely monitored due to higher frequency of adverse effects. Severe disease is treated with partial or complete exchange transfusion. Severely immunocompromised patients may require 6 weeks of antimicrobial therapy if infection persists or recurs. Preventive measures include avoidance of areas where ticks, mice and deer thrive and the use of tick checks, protective clothing and tick repellents.
## Prognosis
Prognosis depends on the species involved and the health of the patient, but is excellent in most immunocompetent patients.
*[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
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Babesiosis
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c0004576
| 27,933 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=108
| 2021-01-23T19:08:49 |
{"gard": ["5878"], "mesh": ["D001404"], "umls": ["C0004576"], "icd-10": ["B60.0"]}
|
A number sign (#) is used with this entry because of evidence that Laron syndrome, also known as growth hormone insensitivity syndrome, is caused by homozygous or compound heterozygous mutation in the growth hormone receptor gene (GHR; 600946) on chromosome 5p.
Description
Laron syndrome is an autosomal recessive disorder characterized by marked short stature that results from failure to generate insulin-like growth factor I (IGF1; 147440) in response to growth hormone (GH; 139250). GH levels are normal or increased. The disorder is caused by dysfunction of the growth hormone receptor.
A Laron syndrome-like phenotype associated with immunodeficiency (245590) is caused by a postreceptor defect, i.e., mutation in the STAT5B gene (604260).
Patients with mutations in the GHR gene that cause only partial insensitivity to growth hormone have a form of short stature (604271).
Clinical Features
Dysfunction of GHR is characterized by clinical hyposomatotropism manifest by short stature, delayed bone age, and occasionally blue sclerae and hip degeneration. Additional features include delayed bone maturation and the absence of bone dysplasias and chronic diseases. Laron syndrome patients have low IGF1 despite normal or increased levels of GH. The GH is functionally normal by the criteria that it reacts normally with a variety of antisera and binds normally to GH receptors. IGF1 is low in GHIS, and exogenous GH does not induce an IGF1 response or restore normal growth. Plasma levels of GH-binding proteins (GHBP), which are derived from the extracellular domain of GHR, are often low. Cultured fibroblasts from patients with Laron dwarfism respond normally to serum growth factors (Cogan and Phillips, 2001).
Pertzelan et al. (1968) described a form of dwarfism in which the abnormality of pituitary hormones is limited to GH, but the level of GH as measured by the immunoassay method is high rather than low. In Israel, all cases (13 females, 7 males) of this type were in Oriental Jews. Laron (1974) listed a number of non-Jewish cases. Several of them were of Dutch or Arab extraction. Inheritance was clearly autosomal recessive. Similarly, Merimee et al. (1968) reported a 30-year-old man who had increased levels of plasma GH that were not suppressed by hyperglycemia and were further augmented by insulin-induced hypoglycemia and by arginine infusion. With respect to all metabolic indices examined, he showed attenuated responses to exogenous GH. Similarities to cases of isolated growth hormone deficiency (IGHD) type I (see 262400) were exaggerated hypoglycemic response to exogenous insulin and insulinopenia after glucose or arginine. Also, Saldanha and Toledo (1981) reported 2 brothers who had apparent severe IGHD but high serum GH levels. These were born to first-cousin parents of possible Italian extraction.
In an inbred population of Spanish extraction in the province of Loja in southern Ecuador, Rosenbloom et al. (1990) studied 20 patients (2 to 49 years of age) with the clinical features of Laron syndrome. Seventeen patients were members of 2 large pedigrees; among 13 affected sibships there were 19 affected and 24 unaffected female sibs and 1 affected and 21 unaffected male sibs. The height of the patients ranged from 6.7 to 10.0 standard deviation (SD) below the normal mean height for age in the United States. In addition to the previously described features, 15 patients had limited elbow extensibility, all had blue sclerae, affected adults had relatively short limbs, and all 4 affected women over 30 years of age had hip degeneration. Acrohypoplasia, defined as hand or foot length below the tenth percentile for height, was noted in 80% of the patients. A high-pitched voice was present in both children and adults. The timing of menarche was moderately to markedly delayed in 5 of 12 women more than 16 years old. Basal serum concentrations of GH were elevated in all affected children and normal to moderately elevated in the adults. The serum level of GHBP ranged from 1 to 30% of normal. Reporting further on this Ecuadorian form of Laron syndrome, Guevara-Aguirre et al. (1991) described 47 patients; approximately 60 cases had been reported worldwide before 1990, half of them from Israel. Guevara-Aguirre et al. (1991) emphasized the occurrence of markedly advanced osseous maturation for height and age; normal body proportions in childhood but childlike proportions in adults; disproportionately greater deviation of stature than head size, giving an appearance of large cranium and small facies; blue sclerae; and limited elbow extension. Unlike the other large group of patients reported from Israel, the Ecuadorian patients were of normal or superior intelligence. Although phenotypically identical, the Ecuadorian patients from Loja province had a markedly skewed sex ratio (19 females:2 males) while those from the El Oro province had a normal sex distribution (14 females:12 males).
Rosenbloom et al. (1999) reviewed the clinical, endocrine, and molecular findings of affected members of this kindred in great detail. They noted that the kindred was descended from 'conversos,' Spanish Jews who became Catholic during the Inquisition.
Schaefer et al. (1994) used computerized image analysis to perform facial morphometrics on patients with Laron syndrome from Ecuador. Morphometrics were compared for 49 patients, 70 unaffected relatives, and 14 unrelated persons. Patients with growth hormone receptor deficiency showed significant decreases in measures of vertical facial growth as compared to unaffected relatives and unrelated persons with short stature from other causes. The findings validated and quantified the clinical impression of foreshortened facies in Laron syndrome.
Buchanan et al. (1991) described anomalous findings in a family from northern India in which 3 sisters had the phenotype of Laron syndrome. All members of the family had high-affinity serum GHBP activity similar in size, circulating levels, and apparent affinity for GH to that of normal subjects. The parents were not known to be consanguineous. Buchanan et al. (1991) concluded that some novel biochemical defect must be responsible for GH-resistance and reduced production of IGF1 in this family.
Goddard et al. (1995) broadened the phenotype of GHIS by demonstrating mutations in the GHR gene (600946.0006, 600946.0007, 600946.0008) in 4 of 14 children with idiopathic short stature selected on the basis of normal growth hormone secretion and low serum concentrations of GH-binding protein. Most children with idiopathic short stature respond to recombinant growth hormone treatment with increases in their growth rates (Hopwood et al., 1993). The report of Goddard et al. (1995) raised the question of whether mutations in the genes for IGF1 (147440), IGF-binding protein-3 (146732), or IGF1R may be involved in some cases of idiopathic short stature.
Woods et al. (1997) examined the phenotypic and biochemical features of 82 GHIS patients from 23 countries. There were 45 males and 37 females (mean age, 8.25 years; mean height, -6.09 SD score; and mean insulin-like growth factor binding protein-3 (IGFBP3; 146732) value, -7.99 SD score). Of these, 63 were GHBP negative and 19 were GHBP positive (greater than 10% binding). The mean heights of GHBP-negative and -positive subjects were -6.5 and -4.9 SD scores (P less than 0.001), respectively. Clinical and biochemical heterogeneity was seen in the wide range of height (-2.2 to -10.4 SD score) and IGFBP3 (-1.4 to -14.7 SD score) values, which were positively correlated (r(2) = 0.45; P less than 0.001). This contrasted with the lack of correlation between mean parental height SD score and height SD score (r(2) = 0.01). Fifteen different GHR mutations were identified in 27 patients. These mutations included 5 nonsense, 2 frameshift, 4 splice, and 4 missense. All patients except 1, a compound heterozygote, were homozygous. There was no relationship between mutation type or exon of the GHR gene involved and height or IGFBP3 SD score. Woods et al. (1997) concluded that GHIS is associated with wide variation in the severity of clinical and biochemical phenotypes. Since this variation cannot clearly be accounted for by defects in the GHR gene, they proposed that other genetic and/or environmental factors contribute to the GHIS phenotype.
Ayling et al. (1997) described a 'new' category of congenital GHIS inherited as an autosomal dominant and caused by a dominant-negative mutation of the growth hormone receptor. There was no evidence of the phenotype usually associated with congenital GHIS (midfacial hypoplasia, blue sclera, limited elbow extension, sparse hair in childhood, or truncal adiposity). The patients studied were a mother and daughter. Sequencing of all GHR coding exons revealed a G-to-C transversion at position -1 of the splice acceptor site of intron 8 (600946.0015). The abnormality was not detected in the maternal grandparents, indicating a de novo mutation in the proband's mother. A signal peptide and extracellular sequence of the GHR gene are encoded by exons 2 to 7 and the transmembrane domain by most of exon 8. The intracellular sequence is encoded by a small part of exon 8, together with exons 9 and 10. RT-PCR with primers located in exons 8 and 10 produced 2 bands of approximately 290 and 220 bp, suggesting that the mutation caused deletion of exon 9. This was confirmed by sequencing. The predicted consequence of the exon skipping was a frameshift resulting in a premature stop codon so that the cytoplasmic sequence of the mutant GHR would be reduced to only 7 amino acids. The GHR belongs to the cytokine superfamily of receptors that depend on JAK tyrosine kinases (see 147795) for activation of STATs (see 600555) and other signaling pathways. Association of JAK2 (147796) with the GHR requires a conserved proline-rich sequence encoded by exon 9, which is located in the cytoplasmic domain. Cotransfection of the mutant and wildtype GHR together with a reporter gene containing STAT5 (601511) binding sites showed that the mutant GHR was unable to activate STAT5. More importantly, the truncated receptor exerted a marked dominant-negative effect on GHR. Ayling et al. (1997) noted that ligand-induced dimerization of GHR is essential for signal transduction, and immunoprecipitation after cotransfecting cells with both forms of GHR showed that the wildtype and mutant forms heterodimerize. A specific cytoplasmic residue is necessary for internalization and degradation of the receptor, and this process is also dependent on ubiquitination of the cytoplasmic domain. Lacking these sequences, the mutant receptors would be expected to accumulate at the cell surface, reinforcing their dominant-negative effect. Overexpression of the mutant allele was also observed and appeared to contribute to the dominant-negative effect. Most previously identified mutations had been located in the extracellular hormone-binding domain of GHR, with consequent decrease in serum GH-binding protein (which is derived from this region of the receptor). The heterozygous mutations found by Goddard et al. (1995) as an apparent contributing factor to the problem in children with 'idiopathic' short stature and low GHBP were also located in the extracellular domain. An important implication of the study by Ayling et al. (1997) was that dominant GHR mutations should be sought in children who would not previously have been thought to have endocrinopathy, namely those with familial short stature and normal GHBP.
Biochemical Features
With the aid of a continuous blood withdrawal pump, Keret et al. (1988) studied the 24-hour secretory pattern of GH in 3 Laron syndrome patients. Secretion of GH was exaggerated but the diurnal secretory profile, as expressed by the number of pulses and the sleep-related maximal pulse, was preserved. The decline in GH secretion that is characteristic of advancing age in normal subjects seemed to occur in Laron syndrome as well. An exaggerated rate of production of GH was thought to be the result of a lack of negative feedback because of IGF1 deficiency.
A functionally abnormal, although immunoreactive, GH molecule was postulated at first to be the cause of Laron syndrome. The demonstration of deficient sulfation factor (somatomedin or IGF1, 147440; IGF2, 147440) generation (Daughaday et al., 1969) suggested that the mutation could involve that substance. By a special receptor assay, Jacobs et al. (1976) concluded that the GHR is defective. This explains the clinical hyposomatotropism, failure to generate IGF and abnormal regulation of fasting GH levels. Plasma GH in Laron syndrome reacts normally with a variety of antisera and also binds normally to GH receptors. In Laron syndrome IGF1 is low and exogenous GH does not cause IGF1 to increase or restore normal growth. In vitro fibroblasts from patients with Laron syndrome respond normally to serum growth factors. The somatomedins, or insulin-like growth factors IGF1 and IGF2, are a family of small peptides that circulate bound to larger carrier proteins. They resemble proinsulin in amino acid sequence and tertiary structure but have limited cross-reactivity with insulin in binding to receptor sites. Circulating somatomedin inhibitors have been demonstrated. Insulin and nutritional status, as well as GH, influence IGF production by the liver. Dietary protein is especially important in the effect. Much of both intrauterine and postnatal growth is probably IGF-dependent.
Circulating GH appears to be immunochemically and biochemically normal in Laron syndrome. Furthermore, endogenous GH of affected persons binds normally in radioreceptor assays. Hepatic unresponsiveness with resulting low levels of circulating IGF1 is the fundamental problem. Golde et al. (1980) showed that the normal in vitro responsiveness of circulating erythropoietic stem cells to exogenous GH was lacking in Laron syndrome, thus suggesting that the biologic defect is indeed peripheral unresponsiveness to GH. In liver tissue from 2 patients with Laron syndrome subjects, aged 4 and 26 years, Eshet et al. (1984) found no specific binding of radiolabelled GH. On the other hand, liver tissue from 6 healthy subjects (kidney transplantation donors) showed a mean specific binding of 14% (range, 7.9 to 24%).
Daughaday and Trivedi (1987) found that serum GHBP is absent in Laron syndrome. This and other evidence points to the identity or close relationship of the cellular receptor and the serum binding protein. The latter may originate through alternative splicing of mRNA or partial degradation resulting in a smaller unanchored protein.
Pintor et al. (1989) described a Sardinian child who appeared to have Laron-type syndrome, but the serum level of IGF1 was within normal limits, as determined by assay of unextracted serum. Laron and Silbergeld (1989) questioned the reliability of IGF1 measurements in unextracted serum, because of the interference of IGF1-binding proteins in the assay. Pintor et al. (1990) restudied their patient and studied a second Sardinian child with the same disorder and found that after extraction of the plasma with acid, IGF1 was indeed low. Aguirre et al. (1990) found that high-affinity GHBP is diminished in the serum of persons heterozygous for GHR mutations.
Although the classic finding in Laron syndrome is absence of GHBP in the serum, Woods et al. (1996) described a homozygous point mutation within the intracellular domain of the growth hormone receptor resulting in Laron syndrome with elevated GHBP (600946.0014). The findings predicted that the mutant protein would not be anchored in the cell membrane and would be measurable in the serum as GHBP, thus explaining the phenotype of severe GH resistance combined with elevated circulating GHBP.
Guevara-Aguirre et al. (2011) monitored for 22 years Ecuadorian individuals who carried mutations in the GHR gene that led to severe GHR and IGF1 deficiencies. Guevara-Aguirre et al. (2011) combined this information with surveys to identify the cause and age of death for individuals in this community who died before this period. The individuals with GHR deficiency exhibited only 1 nonlethal malignancy and no cases of diabetes, in contrast to a prevalence of 17% for cancer and 5% for diabetes in control subjects. A possible explanation for the very low incidence of cancer was suggested by in vitro studies: serum from subjects with GHR deficiency reduced DNA breaks but increased apoptosis in human mammary epithelial cells treated with hydrogen peroxide. Serum from GHR-deficient subjects also caused reduced expression of RAS (e.g., 190020), protein kinase A (PKA; see 188830), and mTOR (601231) and upregulation of SOD2 (147460) in treated cells, changes that promote cellular protection and life span extension in model organisms. Guevara-Aguirre et al. (2011) also observed reduced insulin concentrations (1.4 microU/ml vs 4.4 microU/ml in unaffected relatives) and a very low HOMA-IR (homeostatic model assessment-insulin resistance) index (0.34 vs 0.96 in unaffected relatives) in individuals with GHR deficiency, indicating higher insulin sensitivity, which Guevara-Aguirre et al. (2011) postulated could explain the absence of diabetes in these subjects. The results provided evidence for a role of evolutionarily conserved pathways in the control of aging and disease burden in humans.
Inheritance
Autosomal recessive and autosomal dominant modes of inheritance have been reported in different families. Guevara-Aguirre et al. (1991) observed a distorted sex ratio (19F:2M) among affected cases from the Loja province of Ecuador.
Mapping
Amselem et al. (1989) used denaturing gradient gel electrophoresis and sequencing of specific GHR fragments to characterize specific intragenic DNA markers in 35 control subjects of Mediterranean descent for use in linkage studies. In the 2 Mediterranean families in which the parents were consanguineous and some of the children had Laron syndrome, the disease trait and the DNA polymorphisms on chromosome 5p13-p12 were inherited together.
Molecular Genetics
See growth hormone receptor (600946) for a description of mutations in the GHR gene in Laron syndrome.
Berg et al. (1993) reported that 10 GHR mutations had been reported in Laron syndrome to that time; one was a recurrent mutation, R43X (600946.0003), occurring in a CpG dinucleotide hotspot.
Heterogeneity
Francke and Berg (1993) reviewed genetic heterogeneity in Laron syndrome.
Diagnosis
Laron syndrome is characterized by (1) clinical signs of GH deficiency (short stature, decreased growth velocity and delayed bone age) despite normal or increased plasma GH levels; (2) low IGF1 levels that are unresponsive to exogenous GH; and often by (3) low GHBP levels.
Clinical Management
Geffner et al. (1987) found that whereas tissues from patients with Laron syndrome are resistant to the actions of either endogenous or exogenous GH, erythroid progenitor cells and permanently transformed T-cell lines from 2 patients with Laron syndrome responded in vitro to exogenous IGF1. Responsiveness of insulin was also normal or near normal. The response to IGF in vitro suggested that patients may respond to this agent in vivo. By acute administration of exogenous IGF1, Laron et al. (1988) demonstrated a rapid onset of hypoglycemia associated with a reduction in plasma insulin; thus, the lack of growth hormone receptors in Laron syndrome does not apply to IGF1 receptors and to postreceptor pathways. One would expect that long-term treatment with IGF1 might be beneficial. In an 11-day infusion of recombinant IGF1 in a 9-year-old boy with Laron syndrome, Walker et al. (1991) found metabolic responses like those of GH. They observed the reduction in fasting blood glucose levels expected with IGF1 and undoubtedly related to its insulin-like effect on target cells. Laron et al. (1992) found an impressive response to biosynthetic IGF1 administered subcutaneously once daily for 3 to 10 months in 5 children aged 3.3 to 14.5 years. There was stimulation of rapid linear growth, a striking increase in head circumference, an increase in body weight, and a reduction in subcutaneous fat.
Backeljauw et al. (1996) treated 8 children with GH insensitivity syndrome, 5 with GH receptor deficiency (Laron syndrome) and 3 with growth-attenuating antibodies to GH with recombinant IGF1 for 24 months (one was treated for 36 months). During the first year of treatment, height velocity improved in each patient, but declined by one-third during the second year. The third year height velocity of the 1 patient so treated was approximately the same as that in the second year. The increased HV was accompanied by weight gain. IGF1-related hypoglycemia occurred infrequently and only early in treatment. No adverse changes in biochemical profiles were observed. Bone age did not advance more rapidly than chronological age. The growth of the spleen and kidneys was rapid in the first year of therapy. In the second year, spleen growth slowed to a normal rate in most patients. Kidney growth, however, remained relatively rapid. Backeljauw et al. (1996) concluded that IGF1 stimulates statural growth for at least 2 years and that this peptide has the capacity to act through endocrine mechanisms. However, the stimulation of growth by IGF1 treatment over years needs to be documented, and patients need to be monitored for side effects.
Backeljauw et al. (2001) presented the results of prolonged treatment (6.5 to 7.5 years) of the 8 children treated by Backeljauw et al. (1996) with recombinant human IGF1. Height velocity remained slightly below that achieved during the first and second years of treatment during the subsequent years. No major adverse changes in biochemical profile were observed. IGF1-related hypoglycemia occurred early in treatment with the younger patients, but this problem abated as treatment was continued. The authors concluded that IGF1 therapy is effective in promoting statural growth in GH insensitivity syndrome patients, but that the growth response is neither as intense nor as well-sustained as the growth response to GH among children with GH deficiency.
Guevara-Aguirre et al. (1997) reported 1-year results of a double-blind, placebo-controlled trial of recombinant human IGF1 replacement in 16 children from the Ecuadorian Laron syndrome population. The report extended observations of IGF1 efficacy at 2 dosage levels, over 2 years, compared biochemical responses and their relationship to growth effects, and compared treatment effects of IGF1 in Laron syndrome to GH in idiopathic GH deficiency. Comparable growth responses to the 2 dosage levels and the biochemical changes indicated a plateau effect at or below 80 micrograms/kg body weight twice daily. The greater increase in percent mean body weight for height with treatment of Laron syndrome than with treatment of idiopathic GH deficiency may reflect comparable effects on lean body mass without the lipolytic effects of GH in the Laron syndrome subjects. The difference in growth response between IGF1-treated Laron syndrome and GH-treated GH deficiency groups is consistent with the hypothesis that 20% or more of GH-influenced growth is due to the direct effects of GH on bone. Comparable changes in bone height age suggested similar long-term effects of replacement therapy in the 2 conditions.
Mauras et al. (2000) investigated the in vivo effects of 8 weeks of therapy with recombinant human IGF1 in a cohort of 10 adult Ecuadorian subjects with profound IGF1 deficiency due to homozygous mutation in the GHR gene (GAA180GAG; 600946.0005). There was no change in weight during these studies, but a significant change in body composition was observed, with a decrease in percent fat mass and an increase in lean body mass. These were accompanied by increased rates of protein turnover, decreased protein oxidation, and increased rates of whole body protein synthesis, as measured by leucine tracer methods. There were significant decreases in insulin concentrations and a reciprocal increase in glucose production rates during IGF1 therapy, while glucose concentrations remained constant, suggesting a significant insulin-like action of IGF1. The authors concluded that, similar to GH treatment of adults with GH deficiency, IGF1 may be beneficial as long-term replacement therapy for the adult patient with Laron syndrome.
Using estimated volumetric values, Benbassat et al. (2003) evaluated bone mineral density (BMD) by DEXA in 12 Laron syndrome patients and compared the findings with 10 osteopenic subjects without developmental abnormalities and 10 healthy control subjects matched for sex and age to the Laron syndrome patients. Although areal BMD was significantly lower in the Laron syndrome and osteopenic subjects compared with controls (P less than 0.02) at both the lumbar spine and femoral neck, BMAD was low (P less than 0.01) in the osteopenic group only. It has been speculated that the low BMD found in Laron syndrome patients using conventional DEXA densitometry may be an artifact of reduced bone size. The authors concluded that DEXA does not seem to be a reliable measure of osteoporosis in patients with Laron syndrome.
Population Genetics
The GHR defects known to cause Laron syndrome are as a rule heterogeneous and include gene deletion, recurring CpG dinucleotide substitutions, and other point mutations (Phillips, 1992). Interestingly, in an inbred Ecuadorian population of Spanish extraction, despite homozygosity for a single-nucleotide substitution in exon 6 of GHR that activates a cryptic donor splice site, a skewed sex ratio (19 females:2 males) was observed (Guevara-Aguirre et al., 1991).
Baumbach et al. (1997) characterized the GHR mutation that is responsible for GH insensitivity in a Bahamian genetic isolate. Sequencing identified homozygosity for a C-to-T transition in the third position of codon 236 (GGC to GGT). RT-PCR amplification of cDNA from lymphocytes showed that the 236C-T mutation generated a new splice donor site 63-bp 5-prime to the normal exon 7 splice site. The predicted protein product lacked 21 amino acids, including those defining the WS-like motif of the GHR extracellular domain. The high frequency of Laron syndrome in this isolated island population was proposed to result from the introduction of the mutation that perturbs splicing by a settler early in the 300-year history of English settlement.
Evolution
The cDNAs for GHR have been cloned from a variety of primates, including humans, rabbits, and rats. The extracellular domain of GHR (residues 1-246) corresponds to the extracellular domain of various cytokine receptors, including erythropoietin, granulocyte colony-stimulating factor and interleukins 2-4 and 6-7. In addition, GHR shares approximately 30% sequence identity with the prolactin receptor, with the highest conservation occurring in the extracellular domain adjacent to the GHR transmembrane domain (Phillips, 1992).
Although GHRs in many species bind human growth hormone as well as their own, human GHR binds only primate growth hormone. Arg43 in human GHR interacts with asp171 of human GH. Nonprimates have a his in the position equivalent to residue 171 of primate GH and a leu in position 43 of primate GHR. To determine whether arg43 accounts for the species specificity of human GHR, point mutations that change leu43 to arg were introduced into the cDNAs encoding the bovine GHR or the rat GH-binding protein and these mutants or their wildtype counterparts were expressed in mouse L cells (Souza et al., 1995). The findings in binding studies and in expression systems indicated that incompatibility of arg43 in human GHR with his171 in nonprimate GH is the major determinant of species specificity. The findings of Behncken et al. (1997) agreed with those of Souza et al. (1995).
Animal Model
By segregation data, Eicher and Lee (1991) positioned the GHR locus relative to previously mapped genes on mouse chromosome 15. Just as the GHR locus in humans is the site of the mutation in Laron dwarfism, the locus in the mouse may be the site of the autosomal recessive mutation 'miniature' (mn), which is characterized by severe growth failure and early death and has been mapped to chromosome 15.
To create a mammalian model of Laron syndrome, Zhou et al. (1997) generated mice bearing a disrupted GHR/binding protein gene (GHR; 600946) through a homologous gene targeting approach. Homozygous GHR knockout mice showed severe postnatal growth retardation, proportionate dwarfism, absence of the growth hormone receptor and GH binding protein, greatly decreased serum IGF1, and elevated serum GH concentrations. These characteristics represent the phenotype typical of individuals with Laron syndrome. Animals heterozygous for the defect showed only minimal growth impairment but had an intermediate biochemical phenotype, with decreased GHR and GH binding protein expression and slightly diminished IGF1 levels. These findings indicated that the Laron mouse is a suitable model for human Laron syndrome, and should prove useful for the elucidation of many aspects of GHR/BP function that cannot be obtained in humans.
History
Laron (1990) gave an account of the discovery of the form of dwarfism that bears his name.
Laron (2004) reviewed the diagnosis, follow-up, and treatment of a cohort of patients over 40 years.
INHERITANCE \- Autosomal recessive GROWTH Height \- Marked short stature Other \- Clinical hyposomatotropism \- Normal body proportions in childhood \- Childlike body proportions in adults \- Greater deviation of stature than head size HEAD & NECK Face \- Small facies Eyes \- Blue sclerae (in some patients) SKELETAL \- Delayed bone age \- Markedly advanced osseous maturation for height and age Pelvis \- Hip degeneration Limbs \- Limited elbow extensibility \- Acrohypoplasia \- Short limbs VOICE \- High-pitched voice ENDOCRINE FEATURES \- Target resistance to the action of GH \- Delayed menarche LABORATORY ABNORMALITIES \- Failure to generate somatomedin (or insulinlike growth factor, IGF1) in response to growth hormone \- Normal or increased levels of GH \- Low IGF1 despite normal or increased levels of GH MISCELLANEOUS \- Distorted sex ratio (19F:2M) in Loja province Ecuador cases. MOLECULAR BASIS \- Caused by mutation in the growth hormone receptor gene (GHR, 600946.0001 ) ▲ 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
|
LARON SYNDROME
|
c0271568
| 27,934 |
omim
|
https://www.omim.org/entry/262500
| 2019-09-22T16:23:21 |
{"doid": ["9521"], "mesh": ["D046150"], "omim": ["262500"], "icd-10": ["E34.3"], "orphanet": ["633"], "synonyms": ["Alternative titles", "GROWTH HORMONE INSENSITIVITY SYNDROME", "PITUITARY DWARFISM II", "GROWTH HORMONE RECEPTOR DEFICIENCY"]}
|
A number sign (#) is used with this entry because of evidence that cerebellofaciodental syndrome (CFDS) is caused by homozygous or compound heterozygous mutation in the BRF1 gene (604902) on chromosome 14q32.
Description
Cerebellofaciodental syndrome is an autosomal recessive neurodevelopmental disorder characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia (summary by Borck et al., 2015).
Clinical Features
Borck et al. (2015) reported 6 children from 3 unrelated families with a neurodevelopmental disorder characterized by microcephaly (-2 to -3 SD), delayed development, and variable intellectual disability with poor speech. Two families were of Italian origin and 1 was Portuguese. All patients had similar craniofacial anomalies, including wave-shaped palpebral fissures, sparse eyebrows, sparse hair, low-set ears, dental malocclusion, and prominent upper incisors. Brain imaging showed cerebellar hypoplasia, thin corpus callosum, and enlarged ventricles. Two sibs also had a hypoplastic pons. Skull and orthopanoramic radiographs showed bialveolar protrusion, prominent alveolar processes, and taurodontism. Other features included scoliosis, short neck and trunk, slender long bones, and tapering fingers. Three patients had laryngeal stridor or laryngomalacia.
Inheritance
The transmission pattern of CFDS in the families reported by Borck et al. (2015) was consistent with autosomal recessive inheritance.
Molecular Genetics
In 6 patients from 3 unrelated families with cerebellofaciodental syndrome, Borck et al. (2015) identified homozygous or compound heterozygous mutations in the BRF1 gene (604902.0001-604902.0004). The mutations, which were found by whole-exome sequencing, segregated with the disorder. In vitro functional assays in yeast showed that at least 1 mutation (T259M; 604902.0002) reduced Brf1 occupancy at tRNA target genes, and some mutations (R223W, 604902.0003 and P292H, 604902.0004) impaired cell growth. In yeast, all mutations showed some evidence of impaired RNA polymerase III (Pol III)-dependent transcriptional activity compared to wildtype. The mutations were either completely or partially unable to rescue the neurodevelopmental defects in a zebrafish knockout model. The effects of the variants appeared to be restricted to isoform 2. These findings suggested that BRF1-mediated Pol III transcription, representing basal cellular function, is required for normal cerebellar and cognitive development.
Animal Model
Borck et al. (2015) found that morpholino knockdown of the brf1b gene in zebrafish embryos resulted in microcephaly, significant reduction in size of the optic tectum, and cerebellar hypoplasia. Human BRF1 was able to rescue the phenotype.
INHERITANCE \- Autosomal recessive GROWTH Height \- Short stature HEAD & NECK Head \- Microcephaly (-2 to -3 SD) Ears \- Low-set ears Eyes \- Wave-shaped palpebral fissures \- Sparse eyebrows Teeth \- Dental malocclusion \- Prominent upper incisors \- Bialveolar protrusion \- Prominent alveolar processes \- Taurodontism Neck \- Short neck RESPIRATORY Larynx \- Laryngeal stridor (in some patients) \- Laryngomalacia (in some patients) SKELETAL Spine \- Scoliosis Limbs \- Slender long bones Hands \- Tapering fingers SKIN, NAILS, & HAIR Hair \- Thin hair \- Sparse eyebrows NEUROLOGIC Central Nervous System \- Delayed development \- Intellectual disability \- Cerebellar hypoplasia \- Thin corpus callosum Enlarged ventricles \- Pontine hypoplasia (1 family) MISCELLANEOUS \- Onset in infancy \- Three unrelated families have been reported (last curated January 2015) MOLECULAR BASIS \- Caused by mutation in the homolog of the S. Cerevisiae BRF1 gene (BRF1, 604902.0001 ) ▲ 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
|
CEREBELLOFACIODENTAL SYNDROME
|
c4015495
| 27,935 |
omim
|
https://www.omim.org/entry/616202
| 2019-09-22T15:49:41 |
{"omim": ["616202"], "orphanet": ["444072"], "synonyms": ["Alternative titles", "CEREBELLAR-FACIAL-DENTAL SYNDROME", "Cerebellofaciodental syndrome"]}
|
A rare, non-hereditary thrombotic thrombocytopenic purpura (TTP), characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.
## Epidemiology
The annual incidence of TTP is estimated at 0.25 to 1/250, 000. Immune-mediated TTP is much more common than congenital TTP, accounting for over 95% of all TTP cases, and has a 3:1 female-to-male ratio.
## Clinical description
Disease onset is typically sudden and occurs in adulthood (median age 40 years). Prodromic manifestations including fatigue, arthralgias, myalgias and abdominal and/or lumbar pain are frequently observed around the time of diagnosis. Thrombotic microangiopathy is associated with MAHA, consumptive peripheral thrombocytopenia and variable organ injury due to disseminated microvascular thrombosis. Manifestations due to cerebral (headache, confusion, seizure, focal deficiency, altered mental state and coma; 50-80% of cases), cardiac (infarction, congestive heart failure, arrhythmias, cardiogenic shock, and sudden cardiac arrest), and gastrointestinal (abdominal pain, nausea, vomiting, and diarrhea) involvement are observed. Renal involvement is usually mild. The disease course is variable. Patients may suffer from only one acute TTP episode; however, relapses have been reported in 30-40% of patients. Immune-mediated TTP is usually idiopathic but rarely may occur in association with a connective tissue disease (mostly systemic lupus erythematosus and Sjögren's syndrome), infections (typically HIV infection), or after ticlopidine intake. Patients with a history of immune-mediated TTP are at risk of a relapse during pregnancy.
## Etiology
The majority of cases of immune-mediated TTP are associated with the presence of autoantibodies directed against the von Willebrand factor-cleaving protease, ADAMTS13, resulting in a severe (< 10% of normal activity) ADAMTS13 deficiency. A trigger, including physical stress (surgery), infections, drug intake or a pregnancy, may precipitate the disease.
## Diagnostic methods
Biological features are consistent with hemolysis (high reticulocyte count, indirect bilirubin and LDH levels and a low haptoglobin level). The direct antiglobulin test is negative whereas peripheral blood smear reveals schistocytes. A very low platelet count (≤ 30 000/mm3) and mild renal involvement (serum creatinine ≤ 200 µmol/L) can predict a severe acquired ADAMTS13 deficiency. A severe decrease in ADAMTS13 activity (< 10% normal levels) in the presence of anti-ADAMTS13 autoantibodies confirms diagnosis.
## Differential diagnosis
The main differential diagnoses are congenital TTP and atypical hemolytic uremic syndrome as well as antiphospholipid syndrome, Evans syndrome, disseminated intravascular coagulation, cobalamin deficiency and, in pregnant patients, HELLP syndrome.
## Management and treatment
The treatment of immune-mediated TTP is based on a triplet regimen of therapeutic plasma exchange (TPE; with 1.5 x plasma volume exchange), immunosuppression with corticosteroids and B-cell depletion (rituximab), and caplacizumab, an inhibitor of vWF-platelet interaction. This treatment should be initiated as soon as the clinical diagnosis of TTP is made or suspected and should be continued daily until remission. Steroids, in the absence of uncontrolled infection, are often used as adjuvant first line therapies. Thromboprophylaxis may be introduced when platelet count is above 50,000/mm3. Whilst exacerbations and refractory disease are rare with the triplet regimen, this can be managed with a more intensive treatment including twice-daily TPE. For patients in clinical remission but with a persistently undetectable ADAMTS13 activity, preemptive administrations of rituximab prevents relapse.
## Prognosis
In the absence of treatment, TTP is a rapidly fatal disease (mortality rate > 90%); however, the introduction of TPE has led to a decrease in the rate of mortality to 10-15%. With the recent addition of caplacizumab, mortality may further decrease to < 10%. Even with optimal management, neurological (attention deficit, memory loss) and physical (fatigue) sequelae may persist. A systematic long-term follow-up is required for all patients, due to the risk of relapse. Patients may also develop additional autoimmune diseases.
*[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-mediated thrombotic thrombocytopenic purpura
|
c2584778
| 27,936 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93585
| 2021-01-23T18:49:07 |
{"mesh": ["C536901"], "umls": ["C2584778"], "icd-10": ["M31.1"], "synonyms": ["Acquired TTP", "Acquired thrombotic thrombocytopenic purpura", "Autoimmune thrombotic thrombocytopenic purpura", "Thrombotic thrombocytopenic purpura due to anti-ADAMTS-13 antibodies", "aTTP", "iTTP"]}
|
Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions.
## Epidemiology
The prevalence is unknown and fewer than 40 cases have been reported.
## Clinical description
The first signs of MC occur during the first decade of life. Most frequently, osteochondromas occur in the hands and feet, predominantly in digits and toes, and enchondromas involve the iliac crests and metaphyses of long bones. Osteochondromas are small and point towards the adjacent growth plate. MC does not lead to shortening or bowing of the long bones, joint deformity, or subluxation. The lesions spontaneously decrease in size or regress.
## Etiology
Loss-of-function mutations, including deletions, non-sense mutations and splice sites mutations, of the PTPN11 gene (12q24) have been linked to MC in several families.
## Diagnostic methods
Diagnosis is based on clinical signs, radiographic findings and familial history. The radiographic features are osteochondromas at the metaphyses of the short tubular bones (hands and feet) pointing towards the joints and coexisting with enchondromas.
## Differential diagnosis
The differential diagnosis should include hereditary multiple osteochondromas (MO; see this term) in which the long bones are predominantly affected and the lesions point away from the joint/growth plate and may result in shortening or deformity of the affected bones. Other diseases to be considered include the non-hereditary conditions Ollier disease and Maffucci syndrome (in which multiple enchondromas are found in the medulla of the bone and are predominantly unilateral), and dysplasia epiphysealis hemimelica (DEH; characterized by a cartilaginous overgrowth mainly located in the lower extremities on one side of the body) (see these terms).
## Antenatal diagnosis
Antenatal diagnosis is technically feasible.
## Genetic counseling
MC has an autosomal dominant mode of inheritance. Genetic counseling may be proposed to the patients and their families.
## Management and treatment
For severe malalignment of the fingers/toes, surgical intervention can be considered to remove osteochondromas.
## Prognosis
No malignant transformation has been reported so far. Clinical course is unpredictable as there may be simultaneous growth of some of the lesions and regression of others. Nerve paralysis or vascular complications (avascular necrosis of the femoral head; see this term) may occur.
*[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
|
Metachondromatosis
|
c0410530
| 27,937 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2499
| 2021-01-23T17:36:28 |
{"gard": ["3560"], "mesh": ["C562938"], "omim": ["156250"], "umls": ["C0410530"], "icd-10": ["Q78.4"]}
|
Osteogenesis imperfecta type 6 is a form of osteogenesis imperfecta which results in weakened bones that breaks easily. When viewed under a microscope, bone tissue has a distinct "fish-scale" pattern. Individuals with osteogenesis imperfecta type 6 appear to be healthy at birth and do not have fractures until after 6 months of age. Osteogenesis imperfecta type 6 may be caused by mutations in the SERPINF1 gene and is inherited in an autosomal recessive pattern.
*[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
|
Osteogenesis imperfecta type VI
|
c3279564
| 27,938 |
gard
|
https://rarediseases.info.nih.gov/diseases/8700/osteogenesis-imperfecta-type-vi
| 2021-01-18T17:58:32 |
{"mesh": ["C536047"], "omim": ["613982"], "synonyms": ["OI type 6", "OI6", "OI type VI", "Osteogenesis imperfecta type", "SERPINFI- related osteogenesis imperfecta"]}
|
## Summary
### Clinical characteristics.
Ritscher-Schinzel syndrome (RSS) is a clinically recognizable condition that includes the cardinal findings of craniofacial features, cerebellar defects, and cardiovascular malformations resulting in the alternate diagnostic name of 3C syndrome. Dysmorphic facial features may include brachycephaly, hypotonic face with protruding tongue, flat appearance of the face on profile view, short midface, widely spaced eyes, downslanted palpebral fissures, lowset ears with overfolding of the upper helix, smooth or short philtrum, and high or cleft palate. Affected individuals also typically have a characteristic metacarpal phalangeal profile showing a consistent wavy pattern on hand radiographs. RSS is associated with variable degrees of developmental delay and intellectual disability. Eye anomalies and hypercholesterolemia may be variably present.
### Diagnosis/testing.
The diagnosis of Ritscher-Schinzel syndrome is established in a proband with suggestive clinical findings, including characteristic dysmorphic facial features, and/or by the identification of biallelic pathogenic variants in WASHC5 in a male or female or a hemizygous pathogenic variant in CCDC22 in a male by molecular genetic testing.
### Management.
Treatment of manifestations: Standard treatment for obesity, obstructive sleep apnea, cleft palate, congenital heart defects, hypercholesterolemia, renal anomalies, immunodeficiency, and developmental delay / intellectual disability.
Surveillance: Measurement of growth parameters (particularly weight); assessment of developmental progress, mobility, self-help skills, and educational needs; and monitoring for symptoms of obstructive sleep apnea at each visit; ophthalmology evaluation annually or as clinically indicated; measurement of lipid profile periodically starting in childhood.
### Genetic counseling.
WASHC5-related RSS is inherited in an autosomal recessive manner; CCDC22-related RSS is inherited in an X-linked manner.
* Autosomal recessive inheritance. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier.
* X-linked inheritance. If the mother of the proband has a CCDC22 pathogenic variant, the chance of transmitting it in each pregnancy is 50%. Males who inherit the pathogenic variant will be affected; females who inherit the pathogenic variant will be heterozygotes (carriers) and will usually not be affected.
Once the causative pathogenic variant(s) have been identified in an affected family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic testing are possible.
## Diagnosis
Consensus clinical diagnostic criteria for Ritscher-Schinzel syndrome (RSS) have not been established. Leonardi et al [2001] suggested minimal clinical diagnostic criteria based on 28 affected individuals reported in the literature. They proposed that the following three criteria all be met:
* Congenital heart malformation(s) other than patent ductus arteriosus alone
* Dandy-Walker malformation, cerebellar vermis hypoplasia, or enlarged cisterna magna
* Cleft palate OR ocular coloboma OR four of the following:
* Prominent occiput
* Prominent forehead
* Downslanted palpebral fissures
* Widely-spaced eyes
* Depressed nasal bridge
* Micrognathia
However, these clinical criteria would exclude affected individuals who may not exhibit cerebellar or cardiac malformations in whom Ritscher-Schinzel syndrome has been molecularly confirmed.
### Suggestive Findings
Ritscher-Schinzel syndrome (RSS) should be suspected in an individual with intellectual disability, characteristic facial features, cardiac malformations, malformations of the posterior fossa, and characteristic hand radiographs.
Clinical findings
* Mild-to-severe intellectual disability
* Characteristic dysmorphic facial features
* Macrocephaly
* Brachycephaly
* Flat occiput (prominent occiput in some)
* Hypotonic face with a tendency to a protruding tongue
* Short midface
* Flat appearance of the face on profile view
* Highly arched and thick eyebrows
* Downslanted palpebral fissures
* Widely spaced eyes
* Depressed nasal bridge
* Lowset ears; overfolding of the upper helix
* Smooth or short philtrum
* High palate or cleft palate
* Short broad neck with a low posterior hair line and webbing
Imaging findings
* Cardiac malformations (See Clinical Description, Cardiac malformations.)
* Brain MRI
* Dandy-Walker malformation
* Hypoplasia or dysplasia of the cerebellar vermis
* Hydrocephalus
* Hand radiographs
* Brachydactyly, especially of the second ray
* Shortening of the first metacarpal and the fifth distal phalanx
* Characteristic metacarpal phalangeal pattern profile (See Clinical Description, Limb abnormalities.)
### Establishing the Diagnosis
The diagnosis of Ritscher-Schinzel syndrome is established in a proband with suggestive clinical findings including characteristic dysmorphic facial features, and/or by the identification of biallelic pathogenic variants in WASHC5 in a male or female OR a hemizygous pathogenic variant in CCDC22 in a male by molecular genetic testing (see Table 1).
Molecular genetic testing approaches can include a combination of gene-targeted testing (concurrent or serial single-gene testing, multigene panel) and comprehensive genomic testing (chromosomal microarray analysis, exome sequencing, genome sequencing) depending on the phenotype.
Gene-targeted testing requires that the clinician determine which gene(s) are likely involved, whereas genomic testing does not. Because the phenotype of Ritscher-Schinzel syndrome is broad, individuals with the distinctive findings described in Suggestive Findings are likely to be diagnosed using gene-targeted testing (see Option 1), whereas those in whom the diagnosis of Ritscher-Schinzel syndrome has not been considered are more likely to be diagnosed using genomic testing (see Option 2).
#### Option 1
When the phenotypic and radiographic findings suggest the diagnosis of Ritscher-Schinzel syndrome molecular genetic testing approaches can include concurrent or serial single-gene testing, or use of a multigene panel.
Single-gene testing. Sequence analysis of WASHC5 and CCDC22 detects small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected, although inability to amplify an exon may suggest a whole-exon or larger deletion in a male with an X-linked condition.
* If the individual is of First Nations (FN) heritage (indigenous people of Canada who are not Metis or Inuit) or is female, sequence analysis of WASHC5 is recommended first.
If only one or no pathogenic variant is found, gene-targeted deletion/duplication analysis to detect intragenic deletions or duplications may be considered.
* In a male proband who is not of FN heritage, sequence analysis of CCDC22 may be considered first.
A multigene panel that includes WASHC5, CCDC22, and other genes of interest (see Differential Diagnosis) 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. 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. (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.
#### Option 2
When the diagnosis of Ritscher-Schinzel syndrome is not considered because an individual has atypical phenotypic features, comprehensive genomic testing (which does not require the clinician to determine which gene[s] are likely involved) is the best option. Chromosomal microarray analysis (CMA) and exome sequencing are most commonly used; genome sequencing is also possible.
Chromosomal microarray analysis (CMA) uses oligonucleotide or SNP arrays to detect genome-wide large deletions/duplications that cannot be detected by sequence analysis.
Individuals with a chromosome 6p25 deletion have features that can overlap with RSS (see Differential Diagnosis) [Descipio et al 2005, Micheil Innes 2005].
For an introduction to comprehensive genomic testing click here. More detailed information for clinicians ordering genomic testing can be found here.
### Table 1.
Molecular Genetic Testing Used in Ritscher-Schinzel Syndrome (RSS)
View in own window
Gene 1, 2Proportion of RSS Attributed to Pathogenic Variants in GeneProportion of Pathogenic Variants 3 Detectable by Method
Sequence
analysis 4Gene-targeted deletion/duplication analysis 5
CCDC22<2% 6UnknownUnknown 7
WASHC5>98% 8~99% 9Unknown 7
Unknown 10UnknownNA
1\.
Genes are listed in alphabetic order.
2\.
See Table A. Genes and Databases for chromosome locus and protein.
3\.
See Molecular Genetics for information on allelic variants detected in this gene.
4\.
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.
5\.
Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods that may be used 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.
6\.
A variant in this gene was reported in two male sibs of Austrian origin [Kolanczyk et al 2015]. Another variant was reported in a family from a large X-linked kindred with limited clinical information [Voineagu et al 2012].
7\.
No data on detection rate of gene-targeted deletion/duplication analysis are available.
8\.
This refers to the proportion of affected individuals of First Nations heritage; the proportion of affected individuals of other ethnicities who have biallelic pathogenic variants in WASHC5 is unknown.
9\.
All affected individuals of First Nations heritage from Northern Ontario and Manitoba who were tested for a sequence variant in this gene were found to be homozygous for the c.3335+2T>A variant [Elliott et al 2013]. Most other WASHC5 reported variants are associated with spastic paraplegia 8 (see Genetically Related Disorders).
10\.
Individuals from a large Colombian kindred identified as having RSS were not identified to have any pathogenic variants in WASHC5 or CCDC22, indicating genetic heterogeneity [Pira-Paredes et al 2017].
## Clinical Characteristics
## Differential Diagnosis
6p25 deletion (OMIM 612582). Individuals with a chromosome 6p25 deletion have features that can overlap with Ritscher-Schinzel Syndrome (RSS) [Descipio et al 2005, Micheil Innes 2005]. 6p25 deletion syndrome shares the following features with RSS: intellectual disability, Dandy-Walker malformation, hydrocephalus, congenital heart defects, anomalies of the anterior chamber of the eye, and craniofacial findings (prominent forehead, midface hypoplasia, downslanting palpebral fissures, hypertelorism, epicanthic folds, ptosis, proptosis, external ear anomalies, flat nasal bridge, short or smooth philtrum, and a high arched palate).
6p25 deletion can be distinguished from RSS by the presence of the 6p25 deletion on chromosomal microarray analysis and an overall craniofacial gestalt distinct from RSS.
Other chromosome anomalies may be also be associated with intellectual disability, congenital heart defects, and craniofacial dysmorphisms and can be distinguished by the presence of a chromosome abnormality.
### Table 2.
Disorders to Consider in the Differential Diagnosis of Ritscher-Schinzel Syndrome
View in own window
Differential Diagnosis DisorderGene(s)MOIClinical Features of Differential Diagnosis Disorder
Overlapping w/RSSDistinguishing from RSS
Joubert Syndrome>30 genes 1AR
(XL, digenic) 2
* ID
* Hypoplasia of the cerebral vermis
* Ocular colobomas
* Polydactyly
* Retinal dystrophy
* Cystic kidneys
* Presence of "molar tooth sign" neuroradiologic finding
Ellis-van Creveld syndrome (OMIM 225500)EVC
EVC2AR
* CHD
* Dandy-Walker malformation
* Limb & palate anomalies
* Polydactyly
* Short ribs
* Absence of characteristic RSS facial features
Cornelia de Lange syndromeHDAC8
NIPBL
RAD21
SMC1A
SMC3AD 3
XL
* ID
* CHD
* Craniofacial dysmorphisms
* Distal limb anomalies
* Absence of cerebellar hypoplasia
* Characteristic facial features
CHARGE syndromeCHD7AD 3
* ID
* Dysmorphic facial features
* Coloboma
* Palate anomalies
* CHD
* Choanal atresia
* Inner-ear dysgenesis
* Facial nerve palsies
* Pituitary dysfunction
* Absence of characteristic RSS facial features
Kabuki syndromeKDM6A
KMT2DAD
XL 4
* ID
* Coloboma
* Palate anomalies
* Dysmorphic craniofacial features
* Characteristic facial features
* Persistence of fetal fingertip pads
Frontonasal dysplasia
(OMIM PS136760)ALX1
ALX3
ALX4AR
* ID
* Dysmorphic craniofacial features
* Hypertelorism
* Palate anomalies
* Distal limb anomalies
* Encephalocele
* Nasal clefting
* Distinctive craniofacial features
RSS-like syndrome 5VPS35LAR
* ID
* Dysmorphic craniofacial features
* CHD
* Coloboma
* Cerebellar vermis hypoplasia
* Severe growth restriction
* Microphthalmia
* Periventricular nodular heterotopia
* Chondrodysplasia punctata
* Mesomelia of upper extremities
Loucks-Innes syndrome 6DPH1AR
* ID
* Short stature
* Dandy-Walker malformation, cerebellar vermis hypoplasia, & posterior fossa cyst
* CHD
* Renal anomalies
* Distinctive craniofacial features
* Ectodermal findings
AD = autosomal dominant; AR = autosomal recessive; CHD = congenital heart defect; ID = intellectual disability; MOI = mode of inheritance; RSS = Ritscher-Schinzel syndrome; XL = X-linked
1\.
See Joubert Syndrome.
2\.
Joubert syndrome is predominantly inherited in an autosomal recessive manner. Joubert syndrome caused by pathogenic variants in OFD1 is inherited in an X-linked manner. Digenic inheritance has been reported.
3\.
Typically caused by a de novo pathogenic variant
4\.
The proportion of Kabuki syndrome caused by de novo variants is unknown, but is likely high based on clinical experience.
5\.
Kato et al [2019]
6\.
Loucks et al [2015]
## Management
### Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with Ritscher-Schinzel syndrome (RSS), the evaluations summarized in Table 3 (if not performed as part of the evaluation that led to the diagnosis) are recommended.
### Table 3.
Recommended Evaluations Following Initial Diagnosis in Individuals with Ritscher-Schinzel Syndrome
View in own window
SystemEvaluationComment
ConstitutionalMeasure growth parameters.To assess for short stature &/or obesity
RespiratoryConsider polysomnogram.In those w/obesity who have symptoms of sleep apnea
CraniofacialClinical assessment for cleft palate &/or micrognathiaConsider referral to craniofacial clinic.
EyesOphthalmology evaluationTo evaluate for eye anomalies & visual acuity
CardiovascularEchocardiogram to screen for congenital heart defectsConsider referral to cardiologist.
Lipid profile 1To screen for hypercholesterolemia in older children, adolescents, & adults
RenalRenal ultrasoundTo evaluate for structural renal anomalies
NeurologicNeurologic evaluation
Brain MRI, if not performed as part of initial investigationsStructural brain abnormalities are commonly seen in addition to hydrocephalus.
DevelopmentDevelopmental assessment
* To incl motor, adaptive, cognitive, & speech/ language evaluation
* Evaluation for early intervention / special education
Psychiatric/
BehavioralNeuropsychiatric evaluation
* For individuals age >12 mo
* Particularly useful at school entry to help formulate an appropriate education plan
ImmunologicImmunologic screening 2
* In those w/repeated bacterial infections
* Consider referral to immunologist.
Miscellaneous/
OtherConsultation w/clinical geneticist &/or genetic counselorTo incl genetic counseling
Family support/resourcesAssess:
* Use of community or online resources such as Parent to Parent
* Need for social work involvement for parental support
* Need for home nursing referral
1\.
Including measurement of total cholesterol, HDL, and LDL cholesterol concentrations. Fasting is not required [Mora 2016].
2\.
Including serum immunoglobulin levels and assessment of previous immune responses (e.g., measurement of titers from previous immunizations)
### Treatment of Manifestations
### Table 4.
Treatment of Manifestations in Individuals with Ritscher-Schinzel Syndrome
View in own window
Manifestation/ConcernTreatmentConsiderations/Other
ObesityStandard treatmentIncl referral to nutritional specialists to monitor food intake & weight
Obstructive sleep apneaStandard treatmentMay incl weight control, removal of tonsils/adenoids, &/or CPAP
Cleft palateStandard surgical treatment, ideally by a specialized craniofacial team
Congenital heart defectsStandard treatment
HypercholesterolemiaStandard treatment incl consideration of oral HMG-CoA reductase inhibitors (statins) 1Other considerations incl optimizing weight, ↑ physical activity, & optimizing dietary fiber intake
Renal anomaliesStandard treatment per urologist &/or nephrologist
ImmunodeficiencyStandard treatment per immunologist
Family/Community
* Ensure appropriate social work involvement to connect families w/local resources, respite, & support.
* Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.
* Ongoing assessment of need for palliative care involvement &/or home nursing
* Consider involvement in adaptive sports or Special Olympics.
1\.
Particularly if other cardiovascular risk factors (smoking, diabetes mellitus, hypertension) are identified
#### Developmental Disability / Intellectual Disability Management Issues
The following information represents typical management recommendations for individuals with developmental delay / intellectual disability in the United States; standard recommendations may vary from country to country.
Ages 0-3 years. Referral to an early intervention program is recommended for access to occupational, physical, speech, and feeding therapy as well as infant mental health services, special educators, and sensory impairment specialists. In the US, early intervention is a federally funded program available in all states that provides in-home services to target individual therapy needs.
Ages 3-5 years. In the US, developmental preschool through the local public school district is recommended. Before placement, an evaluation is made to determine needed services and therapies and an individualized education plan (IEP) is developed for those who qualify based on established motor, language, social, or cognitive delay. The early intervention program typically assists with this transition. Developmental preschool is center based; for children too medically unstable to attend, home-based services are provided.
All ages. Consultation with a developmental pediatrician is recommended to ensure the involvement of appropriate community, state, and educational agencies (US) and to support parents in maximizing quality of life. Some issues to consider:
* Individualized education plan (IEP) services:
* An IEP provides specially designed instruction and related services to children who qualify.
* IEP services will be reviewed annually to determine whether any changes are needed.
* As required by special education law, children should be in the least restrictive environment feasible at school and included in general education as much as possible and when appropriate.
* Vision and hearing consultants should be a part of the child’s IEP team to support access to academic material.
* PT, OT, and speech services will be provided in the IEP to the extent that the need affects the child’s access to academic material. Beyond that, private supportive therapies based on the affected individual’s needs may be considered. Specific recommendations regarding type of therapy can be made by a developmental pediatrician.
* As a child enters the teen years, a transition plan should be discussed and incorporated in the IEP. For those receiving IEP services, the public school district is required to provide services until age 21.
* A 504 plan (Section 504: a US federal statute that prohibits discrimination based on disability) can be considered for those who require accommodations or modifications such as front-of-class seating, assistive technology devices, classroom scribes, extra time between classes, modified assignments, and enlarged text.
* Developmental Disabilities Administration (DDA) enrollment is recommended. DDA is a US public agency that provides services and support to qualified individuals. Eligibility differs by state but is typically determined by diagnosis and/or associated cognitive/adaptive disabilities.
* Families with limited income and resources may also qualify for supplemental security income (SSI) for their child with a disability.
#### Motor Dysfunction
Gross motor dysfunction. Physical therapy is recommended to maximize mobility.
Fine motor dysfunction. Occupational therapy is recommended for difficulty with fine motor skills that affect adaptive function such as feeding, grooming, dressing, and writing.
Oral motor dysfunction. Assuming that the individual is safe to eat by mouth, feeding therapy (typically from an occupational or speech therapist) is recommended for affected individuals who have difficulty feeding due to poor oral motor control.
Communication issues. Consider evaluation for alternative means of communication (e.g., Augmentative and Alternative Communication [AAC]) for individuals who have expressive language difficulties. An AAC evaluation can be completed by a speech-language pathologist who has expertise in the area. The evaluation will consider cognitive abilities and sensory impairments to determine the most appropriate form of communication. AAC devices can range from low-tech, such as picture exchange communication, to high-tech, such as voice-generating devices. Contrary to popular belief, AAC devices do not hinder verbal development of speech and in many cases, can improve it.
### Surveillance
### Table 5.
Recommended Surveillance for Individuals with Ritscher-Schinzel Syndrome
View in own window
System/ConcernEvaluationFrequency
EyesOphthalmology evaluationAnnually or as clinically indicated
CardiovascularLipid profile 1Periodically 2
ConstitutionalMeasurement of growth parameters, particularly weightEach visit
RespiratoryMonitor for symptoms of obstructive sleep apnea.
MusculoskeletalPhysical medicine, OT/PT assessment of mobility, self-help skills
DevelopmentMonitor developmental progress & educational needs.
Miscellaneous/
OtherAssess family need for social work support (e.g., respite care, home nursing, other local resources) & care coordination.
OT = occupational therapy; PT = physical therapy
1\.
Including measurement of total cholesterol, HDL, and LDL cholesterol concentrations.
2\.
Specific frequency may depend on initial cholesterol levels; in those without elevated cholesterol levels, screening every few years may be appropriate.
### Evaluation of Relatives at Risk
See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.
### Therapies Under Investigation
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. Note: There may not be clinical trials for this disorder.
*[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
|
Ritscher-Schinzel Syndrome
|
c0796137
| 27,939 |
gene_reviews
|
https://www.ncbi.nlm.nih.gov/books/NBK553049/
| 2021-01-18T21:00:01 |
{"mesh": ["C535313"], "synonyms": ["3C Syndrome", "Cranio-Cerebello-Cardiac Dysplasia"]}
|
Neuronal ceroid lipofuscinosis 5 (CLN5-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 4.5 and 7 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and cognitive/motor decline. It occurs predominantly in the Finnish population. CLN5-NCL is caused by changes (mutations) in the CLN5 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.
*[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
|
Neuronal ceroid lipofuscinosis 5
|
c1850442
| 27,940 |
gard
|
https://rarediseases.info.nih.gov/diseases/1223/neuronal-ceroid-lipofuscinosis-5
| 2021-01-18T17:58:43 |
{"mesh": ["C575534"], "omim": ["256731"], "umls": ["C1850442"], "orphanet": ["228360"], "synonyms": ["CLN5", "Neuronal ceroid lipofuscinosis Finnish variant", "CLN5 disease, late infantile (subtype)", "CLN5 disease, juvenile", "CLN5 disease, adult"]}
|
A malignant hepatic tumor, typically affecting the pediatric population, arising mostly in an otherwise healthy liver. The most common signs are addominal distension and abdominal mass. Sometimes patients present with anorexia, weight loss, fatigue. Most HBLs are sporadic, but some cases are associated with genetic factors, especially overgrowth syndromes, such as Beckwith-Wiedemann syndrome (BWS) or hemihypertrophy, and familial adenomatous polyposis (FAP).
## Epidemiology
Hepatoblastoma (HB) accounts for about 0,5-2% of all pediatric tumors and for 2/3 of primary hepatic tumors in children. Its incidence is estimated to be 1/1,000,000 in Europe and 1-1,5/1,000,000 in USA. A slight male predilection (1.5:1 to 2:1) has been observed. The incidence of HBL in children has been increasing by about 5% annually.
## Clinical description
The age of disease onset lies in infancy or early childhood (median age of occurrence is 18 months and 90% of HBs present before 5 years). The most common signs are: (1) abdominal distension and abdominal mass, (2) anorexia, weight loss, fatigue, (3) abdominal pain, nausea and vomiting, (4) jaundice is less frequently observed, (5) anemia and thrombocytosis detected by laboratory tests. Rare cases present with precocious puberty/virilization due to beta-human chorionic gonadotropin (hCG) secretion by the tumor. FAP and BWS are associated with an increased risk of HB. Trisomy 13 and 18, Goldenhar syndrome, Noonan syndrome, Fragile X syndrome, Sotos syndrome, Prader-Willi syndrome, Prune belly syndrome, Aicardi syndrome and neurofibromatosis type 1 may also predispose to HB. Genetic syndromes are associated with 20% of HB cases. High-risk patients are those with distant metastases, very low initial alpha-fetoprotein (AFP) level (under 100 ng/ml), older age (over 8 years), tumor rupture at diagnosis and/or tumor involvement of all 4 hepatic sections.
## Etiology
The etiology of HB is still unknown. However, it is hypothesized to derive from primary hepatoblasts, and likely from less differentiated hepatic stem cells or human fetal liver multi-potent progenitor cells (hFLMPCs). Mutations of the genes APC (5q21-q22), AXIN1 (16p13.3) and AXIN2 (17q24.1), that prevent degradation of beta-catenin, have been found in syndromic forms of HB but have rarely been described in sporadic HB. However, a high rate of oncogenic mutations of the beta-catenin gene (CTNNB1; 3p21) (60%-70%) has been reported in HB and it is thought to be associated with constitutive activation of the Wnt/beta-catenin signaling pathway. Overall, Wnt pathway abnormalities account for up to 90% of genetic defects in hepatoblastoma tumor.
## Differential diagnosis
Differential diagnosis includes: (1) hemangioma and infantile hemangioendothelioma (IHE), (2) hepatic mesenchymal hamartoma, (3) focal nodular hyperplasia (FNH), (4) pediatric hepatocellular carcinoma (HCC), (5) undifferentiated embryonal sarcoma of the liver (UESL), (6) embryonal rhabdomyosarcoma (eRMS), (7) rhabdoid tumor of the liver, (8) hepatic adenoma.
## Management and treatment
A diagnostic tumor biopsy should be mandatory for all patients with primary liver tumor. HB is definitely a surgical tumor. Surgery remains the cornerstone of management and complete resection is crucial for cure. In most cases complete resection of the tumor can be achieved with a partial hepatectomy (hemihepatectomy). The PRETEXT (PRETreatment EXtent of Disease) system (based on liver anatomy and imaging) is used for assessment of chemotherapy response and planning the extent of liver resection. Resection at diagnosis is currently recommended for very low risk tumors (PRETEXT I/II, M-, surgically resectable at diagnosis (VPEFR-), and additionally in PRETEXT II: age under 8 years, AFP over100 ng/ml) and only when a segmentectomy or hemihepatectomy with at least 1 cm margin on middle hepatic vein and/or bifurcation of portal vein is possible. For unresectable tumors, preoperative chemotherapy (mostly systemic or, in highly selected cases, transcatheter arterial chemoembolization [TACE], sometimes combined with systemic chemotherapy) is used. Total hepatectomy with liver transplantation is a treatment option for HB in conditions where the tumors remain unresectable after chemotherapy or for multifocal HB invading all 4 sections of the liver. 10-20% of all HB cases require liver transplantation. In most cases postoperative chemotherapy is used routinely.
## Prognosis
Current prognosis for patients with resectable tumors and no high risk features is fairly favorable (90%), whereas the outcome for those with metastases is around 50-70%, while the prognosis of patients with non-resectable or recurrent disease is relatively poor (around 20-30%). Relapse in HB occurs in less than 12% of the children who have achieved complete remission.
*[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
|
Hepatoblastoma
|
c0206624
| 27,941 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=449
| 2021-01-23T18:08:33 |
{"gard": ["2657"], "mesh": ["D018197"], "omim": ["114550"], "umls": ["C0206624"], "icd-10": ["C22.2"]}
|
Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system.
## Epidemiology
According to data collected from countries that have screened over 200,000 newborns, the cumulative detection rate of CbS deficiency is 1 in 344,000. In some areas, the reported incidence based on clinical cases is approximately 1 in 65,000. More recently, screening based on CbS mutations has led to reported incidences as high as 1 in 20,000.
## Clinical description
Patients are normal at birth and, if left untreated, the disease course is progressive. Eye anomalies include ectopia lentis (85% of the cases), with high myopia. Skeletal changes include genu valgum and pes cavus, followed by dolichostenomelia, pectus excavatum or carinatum and kyphosis, or scoliosis and osteoporosis. Thromboembolism, affecting both large and small arteries and veins, is the most striking cause of morbidity and mortality. Intellectual deficiency rarely manifests before the first to second year of life. Clinically significant psychiatric illness is found in 51% of cases. Involvement of the liver, hair, and skin has also been reported.
## Etiology
The disease is a disorder of methionine metabolism caused by mutations in the CBS gene (21q22.3). CbS normally converts homocysteine to cystathionine in the transsulfuration pathway of the methionine cycle and requires pyridoxal 5-phosphate as a cofactor. The other two cofactors involved in methionine remethylation include vitamin B12 and folic acid.
## Diagnostic methods
Clinical diagnosis of CbS deficiency is confirmed by blood amino acid analysis (including total homocysteine measurement), assays of CbS enzyme activity, or by screening for CBS mutations.
## Genetic counseling
The disease is inherited in an autosomal recessive manner.
## Management and treatment
If the disease is diagnosed in the newborn infant, as ideally it should be, the aim of treatment must be to ensure the development of normal intelligence and prevent the development of other complications. Later, itaims at preventing life-endangering thromboembolic events and further escalation of the complications. There are currently three recognized modalities of treatment. For those that are pyridoxine responsive, the treatment includes pyridoxine in pharmacological doses in combination with folic acid and vitamin B12 supplements. In pyridoxine nonresponsive individuals, the recommended treatment is a methionine-restricted, cystine-supplemented diet in combination with the pyridoxine, folic acid and vitamin B12 supplementation. Betaine anhydrous is a methyl donor that may lead to lowering of homocysteine levels in these individuals and can be used as an adjunct to such a diet. It obtained EU marketing authorization as an orphan drug for the treatment of homocystinuria in 2007.
*[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
|
Classic homocystinuria
|
c0751202
| 27,942 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=394
| 2021-01-23T17:39:32 |
{"gard": ["6667"], "mesh": ["D006712"], "omim": ["236200"], "umls": ["C0751202"], "icd-10": ["E72.1"], "synonyms": ["Cystathionine beta-synthase deficiency", "Homocystinuria due to cystathionine beta-synthase deficiency"]}
|
Falsetti et al. (1964) described brother and sister with a syndrome characterized by obesity, cyanosis, somnolence, muscular twitching, and periodic breathing. See 164160 for a discussion of the genetics of obesity.
Resp \- Periodic breathing Growth \- Obesity Neuro \- Somnolence \- Muscular twitching Inheritance \- Autosomal recessive Skin \- Cyanosis ▲ 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
|
OBESITY-HYPOVENTILATION SYNDROME
|
c0031880
| 27,943 |
omim
|
https://www.omim.org/entry/257500
| 2019-09-22T16:24:12 |
{"mesh": ["D010845"], "omim": ["257500"], "icd-9": ["278.03"], "icd-10": ["E66.2"], "synonyms": ["Alternative titles", "PICKWICKIAN SYNDROME"]}
|
Zonular cataract and nystagmus
Other namesEarly-onset non-syndromic cataract
SpecialtyMedical genetics
Zonular cataract and nystagmus, also referred as Nystagmus with congenital zonular cataract is a rare[1] congenital disease associated with Nystagmus and zonular cataract of the eye.
## Contents
* 1 Genetics
* 2 Diagnosis
* 3 Treatment
* 4 References
* 5 External links
## Genetics[edit]
It has been suggested that the disease follows an x-linked pattern of inheritance[2] though studies done on this particular disease are few.[3]
## Diagnosis[edit]
This section is empty. You can help by adding to it. (August 2017)
## Treatment[edit]
This section is empty. You can help by adding to it. (August 2017)
## References[edit]
1. ^ Zonular cataract and nystagmus at NIH's Office of Rare Diseases
2. ^ Falls HF (1952). "The role of the sex chromosome in hereditary ocular pathology". Trans Am Ophthalmol Soc. 50: 421–67. PMC 1313185. PMID 13102571.
3. ^ Online Mendelian Inheritance in Man (OMIM): Zonular cataract and nystagmus - 315000
## External links[edit]
Classification
D
* OMIM: 302200
* MeSH: C535338
External resources
* Orphanet: 91492
This genetic disorder 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
|
Zonular cataract and nystagmus
|
c2930878
| 27,944 |
wikipedia
|
https://en.wikipedia.org/wiki/Zonular_cataract_and_nystagmus
| 2021-01-18T18:36:37 |
{"mesh": ["C535338"], "umls": ["C2930878", "C2752078"], "orphanet": ["98991", "98994", "91492"], "wikidata": ["Q8074019"]}
|
A number sign (#) is used with this entry because of evidence that early-onset progressive encephalopathy with brain atrophy and thin corpus callosum (PEBAT) is caused by homozygous or compound heterozygous mutation in the TBCD gene (604649) on chromosome 17q25.
Description
PEBAT is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development apparent soon after birth or in infancy, profound intellectual disability, poor or absent speech, and seizures. Most patients are never able to walk due to hypotonia or spasticity. Brain imaging shows cerebral and cerebellar atrophy, thin corpus callosum, and secondary hypomyelination. The disorder shows progressive features, including microcephaly, consistent with a neurodegenerative process (summary by Miyake et al., 2016; Flex et al., 2016).
Clinical Features
Miyake et al. (2016) reported 8 children from 4 unrelated families with a severe early-onset neurodegenerative encephalopathy. Four patients from 2 unrelated nonconsanguineous Japanese families presented at birth or in the first weeks of life with severe hypotonia and almost no movement, often necessitating mechanical ventilation. In addition to no head control, visual tracking, or eye contact, they had arthrogryposis, absence of deep tendon reflexes, poor muscle volume, and growth failure with postnatal microcephaly. Two sibs had bone fractures and the other 2 sibs had seizures, which were associated with hypsarrhythmia in 1. More variable features included tongue fasciculations and optic nerve atrophy. Brain imaging showed variable diffuse atrophy of the cerebrum, cerebellum, brainstem, and spinal cord, and laboratory studies showed increased serum creatine kinase in some patients. Two sibs from a Chinese family had normal development until 4 months of age, followed by neurologic deterioration and developmental regression, severe hypotonia similar to the other patients, and intractable seizures. These patients also had microcephaly, delayed myelination, thin corpus callosum, and reduced white matter volume. All 6 of these patients were immobile, and most were mechanically ventilated; 3 died. Two sibs from an Iraqi-Jewish family had a slightly less severe but similar phenotype: they had onset of severe and intractable seizures at 9 and 11 months of age, respectively, associated with severe developmental regression, delayed psychomotor development, muscle weakness and atrophy, hypertonia, and hyperreflexia, but were able to walk.
Flex et al. (2016) reported 7 children from 5 unrelated families with severely delayed psychomotor development apparent since infancy, moderate to profound intellectual disability, and poor or absent language. Most of the children had hypotonia and all had spastic tetraplegia: 6 had scoliosis, 4 were never able to walk, and 3 never achieved sitting or head control. Six patients had optic atrophy and 4 had microcephaly. Variable dysmorphic features included sparse eyebrows, upslanting palpebral fissures, hypertelorism, micrognathia, and widely spaced teeth. Most patients had swallowing or feeding difficulties and/or chronic constipation. Brain imaging showed cortical atrophy and secondary hypomyelination, followed by cerebellar atrophy, consistent with slowly progressive neurodegeneration. Flex et al. (2016) noted that there were no signs of brain malformation, such as cortical dysplasia or simplified gyral pattern.
Inheritance
The transmission pattern of PEBAT in the families reported by Miyake et al. (2016) was consistent with autosomal recessive inheritance.
Molecular Genetics
In 8 children from 4 unrelated families with PEBAT, Miyake et al. (2016) identified homozygous or compound heterozygous mutations in the TBCD gene (604649.0001-604649.0007). The mutations, which were found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the families. There were 5 missense mutations, 1 nonsense mutation, and 1 splice site mutation. In vitro functional expression studies showed that the mutants had variably impaired binding to ARL2, TBCA (610058), and beta-tubulin, suggesting that they decreased formation of microtubule chaperone complexes. In vivo experiments using olfactory projection neurons in Drosophila confirmed that the TBCD mutations caused a loss of function, with an inability to rescue abnormal dendritic and axonal projections in tbcd mutants. Miyake et al. (2016) suggested that TBCD depletion may result in an abnormal microtubule network and abnormal microtubule trafficking of mitochondria in the human brain, resulting in decreased energy supply to neuronal cells and subsequent neuronal degeneration.
In 7 patients from 5 unrelated families with PEBAT, Flex et al. (2016) identified biallelic mutations in the TBCD gene (see, e.g., 604649.0006-604649.0010). The mutations, which were found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the families. There were 7 missense mutations and 1 splice site mutation. Fibroblasts from 3 patients and cellular transfection studies showed that the missense mutations caused variably decreased levels of TBCD protein, consistent with instability of the mutant proteins. In vitro functional expression studies showed that most of the mutant TBCD proteins had decreased interaction with beta-tubulin, suggesting a loss-of-function effect. Patient fibroblasts showed altered microtubule dynamics with accelerated microtubule polymerization, showing an overall shift toward a more rapidly growing and stable microtubule population. These findings were consistent with loss-of-function or hypomorphic mutations because TBCD overexpression prevents the growth of microtubules. Patient cells also showed an aberrant mitotic spindle with disorganized, tangle-shaped microtubules and reduced aster formation, although the rate of cell proliferation was unchanged. The findings suggested that altered microtubule dynamics have an impact on neuronal function and survival in the brain.
INHERITANCE \- Autosomal recessive GROWTH Other \- Poor overall growth HEAD & NECK Head \- Microcephaly, postnatal Face \- Facial hypotonia \- Micrognathia Eyes \- Lack of visual attention \- Optic atrophy \- Upslanting palpebral fissures \- Hypertelorism \- Sparse eyebrows Mouth \- Tongue fasciculations Teeth \- Widely spaced teeth RESPIRATORY \- Respiratory insufficiency due to hypotonia ABDOMEN Gastrointestinal \- Poor feeding \- Constipation GENITOURINARY Bladder \- Incontinence (in some patients) SKELETAL \- Arthrogryposis Spine \- Scoliosis MUSCLE, SOFT TISSUES \- Hypotonia, severe \- Muscle atrophy \- Muscle weakness \- Myopathic changes seen on muscle biopsy NEUROLOGIC Central Nervous System \- Encephalopathy \- Delayed psychomotor development \- Developmental regression \- Intellectual disability \- Poor or absent speech \- Lack of head control \- Lack of ambulation \- Seizures \- Spastic tetraplegia \- Diffuse cerebral atrophy \- Enlarged ventricles \- Cerebellar atrophy \- Thin corpus callosum \- Brainstem atrophy \- Spinal atrophy \- White matter atrophy \- Hypomyelination \- Neuronal loss \- Laminar necrosis \- Gliosis MISCELLANEOUS \- Onset at birth or in the first months of life \- Variable severity MOLECULAR BASIS \- Caused by mutation in the tubulin-specific chaperone D gene (TBCD, 604649.0001 ) ▲ 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
|
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
|
c4310671
| 27,945 |
omim
|
https://www.omim.org/entry/617193
| 2019-09-22T15:46:27 |
{"omim": ["617193"], "orphanet": ["496641"], "synonyms": []}
|
Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera.
## Epidemiology
The overall prevalence of OI is estimated at between 1/10,000 and 1/20,000 but the prevalence of type II is unknown.
## Clinical description
There are three subtypes of OI type II (A, B and C) that are characterized by different radiological features. Patients with OI type IIA present with broad ribs with multiple fractures, continuous beaded ribs and severe undermodeling of the femur, OI type IIB presents with normal or thin ribs with some fractures, discontinuous beaded ribs and some undermodeling of the femur, and OI type IIC presents with varying thickness of the ribs, discontinuous beading of the ribs, malformed scapulae and ischiae, and slender and twisted long bones. Type IIC is extremely rare and its existence is even doubted.
## Etiology
OI type IIA is caused by mutations of the COL1A1 and COL1A2 genes (17q21.31-q22 and 7q22.1 respectively) and transmission is autosomal dominant. Type IIB can be autosomal dominant and also caused by mutations of the COL1A1 and COL1A2 genes (17q21.31-q22 and 7q22.1 respectively) or it can be autosomal recessive and caused by mutations in the CRTAP gene (3p22) (sometimes described as OI type VII) or the LEPRE1 gene (1p34) (sometimes described as OI type VIII) or the PPIB gene (15q21-q22) (sometimes described as OI type IX).
*[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
|
Osteogenesis imperfecta type 2
|
c0268358
| 27,946 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=216804
| 2021-01-23T18:13:33 |
{"gard": ["10142"], "mesh": ["C536042"], "omim": ["166210", "259440", "610682", "610915"], "umls": ["C0268358"], "icd-10": ["Q78.0"], "synonyms": ["Lethal osteogenesis imperfecta", "OI type 2"]}
|
A number sign (#) is used with this entry because of evidence that RAPADILINO syndrome is caused by homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 (603780) on chromosome 8q24.
Clinical Features
In a brother and sister and in 3 sporadic patients, Kaariainen et al. (1989) described a syndrome with radial and patellar aplasia or hypoplasia as main features. Additional findings were absence of thumbs, dislocation of joints, unusual facies (long face with narrow palpebral fissures, long slender nose, small chin, and unusual ears), cleft or highly arched palate, diarrhea in infancy, small stature, and normal intelligence. There was no parental consanguinity and the parents in all cases were healthy, although the father of 1 sporadic case had had habitual dislocations of 1 knee. The families originated from different parts of Finland. The unusual acronym was derived as follows: RA for radial, PA for both absent/hypoplastic patellas and cleft/highly arched palate, DI for diarrhea, as well as dislocated joints, LI for little size and limb malformations, and NO for long, slender nose and normal intelligence.
Among 62 patients with radial aplasia/hypoplasia in Finland, Kaariainen (1993) found a total of 11 cases of RAPADILINO syndrome. Stiff interphalangeal joints were present in at least 5 of the 11, mottled or stippled pigmentation in at least 4, and hearing defect in at least 2. The 11 cases were distributed in 8 families; there were 3 males and 8 females. In 3 families with brother/sister pairs, the sister was always more severely affected than the brother. The parents in all 8 families were healthy; in 2 of the families, they were consanguineous.
Vargas et al. (1992) reported an isolated case in a boy who had severe radial hypoplasia, absent thumbs and patellas, short stature, persistent diarrhea, slender nose, and normal intelligence.
Molecular Genetics
Siitonen et al. (2003) noted clinical similarities between RAPADILINO syndrome and Rothmund-Thomson syndrome (268400), which can be caused by mutation in the RECQL4 gene. In a screening for mutations in the RECQL4 gene in 10 Finnish families with RAPADILINO syndrome, they identified 4 different mutations, a splice site mutation in intron 7 (603780.0009) and 3 nonsense mutations. Nine of 13 patients were homozygous and another 4 heterozygous for the splice site mutation.
Siitonen et al. (2009) identified homozygosity or compound heterozygosity for RECQL4 mutations in 16 (46%) of 35 Finnish patients with a suspected clinical diagnosis of RTS, RAPADILINO, or BGS. The authors stated that the most common RECQL4 mutation, 1390+2delT in intron 7 (603780.0009), is enriched in the isolated Finnish population and that all Finnish RAPADILINO patients carry at least 1 copy of the mutation. Reviewing the 15 reported Finnish RAPADILINO patients for cancer status, Siitonen et al. (2009) found that 2 patients had osteosarcoma and 4 had lymphoma, indicating a high cancer incidence of 40%.
Limbs \- Absent thumbs \- Radial aplasia/hypoplasia Neuro \- Normal intelligence Inheritance \- Autosomal recessive Skel \- Patellar aplasia/hypoplasia GI \- Infantile diarrhea Ears \- Unusual ears \- Hearing defect Facies \- Long face \- Narrow palpebral fissures \- Long slender nose \- Small chin Joints \- Joint dislocations \- Stiff interphalangeal joints Growth \- Small stature Mouth \- Cleft palate \- High arched palate Skin \- Mottled or stippled pigmentation ▲ 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
|
RAPADILINO SYNDROME
|
c1849453
| 27,947 |
omim
|
https://www.omim.org/entry/266280
| 2019-09-22T16:22:49 |
{"doid": ["0050774"], "mesh": ["C535288"], "omim": ["266280"], "orphanet": ["3021"]}
|
Nora et al. (1970) concluded that the frequency of congenital heart malformations in first-degree relatives of probands is close to the square root of the population frequency that Edwards (1960) suggested should be the case for a multifactorial disorder. Zetterqvist (1971) reported a family with many cases of various cardiac malformations.
Cardiac \- Congenital heart malformation \- Hypoplastic left heart syndrome Inheritance \- Autosomal dominant vs. 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
|
HEART, MALFORMATION OF
|
c0018798
| 27,948 |
omim
|
https://www.omim.org/entry/140500
| 2019-09-22T16:40:25 |
{"mesh": ["D006330"], "omim": ["140500"], "icd-9": ["746.9"], "icd-10": ["Q24.9"]}
|
## Description
More than a quarter of the human population is affected by soil-transmitted helminthes, which impair nutrition and the immune response to widespread pandemics, such as acquired immunodeficiency syndrome (see 609423) and tuberculosis (see 607948). The roundworm Ascaris lumbricoides, the most common human parasite of the gastrointestinal tract, causes ascariasis, which has a worldwide distribution with highest prevalence in tropical and subtropical regions and in areas with inadequate sanitation. Ascariasis is triggered by ingestion of parasite eggs. During its life cycle, Ascaris threatens human health with nonspecific abdominal symptoms, intestinal obstruction and perforation, biliary colic, gallstone formation, liver abscesses, pancreatitis, and pulmonary eosinophilia (Sanglas et al., 2009).
Pathogenesis
Sanglas et al. (2009) noted that Ascaris roundworms secrete a battery of selective inhibitors to protect themselves from host enzymes and the immune system. Sanglas et al. (2009) cloned the gene encoding an Ascaris metallocarboxypeptidase (MCP) inhibitor, ACI. The crystal structure of ACI complexed to one of its potential host targets, CPA1 (114850), showed that the worm protein entered the funnel-like active-site cavity of the enzyme. Sanglas et al. (2009) proposed that ACI interaction with host MCPs in the intestine and intestinal mucosa mast cells may explain prolonged Ascaris survival in a hostile environment.
Inheritance
Williams-Blangero et al. (1999) stated that a familial patterning to A. lumbricoides infection had been noted in several reports (e.g., Williams et al., 1974 and Forrester et al., 1988), and that the heritability of resistance/susceptibility to gastrointestinal nematodes had been demonstrated in sheep and cattle. Williams-Blangero et al. (1999) presented a genetic epidemiologic analysis of A. lumbricoides infection in the Jirel population of eastern Nepal. A total of 1,261 individuals belonging to a single pedigree were assessed for intensity of Ascaris infection at 2 points in time. Following an initial assessment in which all individuals were treated with albendazole, a follow-up examination was performed 1 year later to evaluate reinfection patterns. They used 3 measures of worm burden, including eggs per gram of feces, direct worm counts, and worm biomass (weight). For all 3 traits, variance component analysis of the familial data provided unequivocal evidence for a strong genetic component accounting for 30 to 50% of the variation in worm burden. Shared environmental (i.e., common household) effects accounted for 3 to 13% of the total phenotypic variants.
Molecular Genetics
Holland et al. (1992) found that A. lumbricoides worm loads in Nigerian children appeared to be related to the major histocompatibility complex.
*[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
|
ASCARIS LUMBRICOIDES INFECTION, SUSCEPTIBILITY TO
|
c1858580
| 27,949 |
omim
|
https://www.omim.org/entry/604291
| 2019-09-22T16:12:13 |
{"omim": ["604291"], "synonyms": ["Alternative titles", "ASCARIASIS, SUSCEPTIBILITY TO"]}
|
## Description
Mycosis fungoides is a malignant T-cell lymphoma of the skin, first reported (and named) by Alibert (1835).
Sezary syndrome is a leukemic variant of mycosis fungoides defined by erythroderma with greater than 80% of the skin showing redness, adenopathy and greater than 1,000 circulating Sezary cells/microliter with a CD4+CD26- or CD4+CD7- phenotype. Sezary cells have a type 2 helper T cell cytokine profile. Sezary syndrome has a median overall survival time of only 2.4 years in patients with Sezary cells at a density of greater than 10,000 cells/microliter or 5.4 years in patients with 1,000-10,000 Sezary cells/microliter. Mycosis fungoides and Sezary syndrome are the most common cutaneous T-cell lymphomas. Sezary syndrome can arise de novo or can appear following years of chronic mycosis fungoides. Both are thought to arise from clonal expansion of CD4+ helper T cells responding to chronic antigen stimulation (summary by Wang et al., 2015).
Inheritance
Sandbank and Katzenellenbogen (1968) observed mycosis fungoides in brother and sister. Cameron (1933) reported the condition in mother and daughter. Shelley (1980) observed mycosis fungoides in father and daughter and reviewed the sparse reports of other familial occurrences.
Hodgkin disease (236000) and various lymphomas also show familial aggregation. Greene et al. (1982) found that of 526 consecutive patients with cutaneous T-cell lymphomas, 21 had first-degree relatives with lymphoproliferative or hematopoietic malignancies--29 such malignancies in 21 kindreds. Hodgkin disease accounted for a third, with various leukemias (11 cases), non-Hodgkin lymphoma (5 cases), and multiple myeloma (3 cases) accounting for the rest.
Molecular Genetics
Wang et al. (2015) presented a multiplatform genomic analysis of 37 patients with Sezary syndrome that implicates dysregulation of cell cycle checkpoint and T cell signaling. Frequent somatic alterations were identified in TP53 (191170), CARD11 (607210), CCR4 (604836), PLCG1 (172420), CDKN2A (600160), ARID1A (603024), RPS6KA1 (601684), and ZEB1 (189909). Activating CCR4 and CARD11 mutations were detected in nearly one-third of patients. ZEB1, encoding a transcriptional repressor essential for T cell differentiation, was deleted in over one-half of patients. IL32 and IL2RG were overexpressed in nearly all cases.
Da Silva Almeida et al. (2015) performed whole-exome sequencing of tumor-normal sample pairs from 25 patients with Sezary syndrome and 17 patients with other cutaneous T cell lymphomas (CTCLs). These analyses identified a distinctive pattern of somatic copy number alterations in Sezary syndrome, including highly prevalent chromosomal deletions involving the TP53, RB1 (614041), PTEN (601728), DNMT3A (602769), and CDKN1B (600778) tumor suppressors. Mutation analysis identified a broad spectrum of somatic mutations in key genes involved in epigenetic regulation (TET2, 612839; CREBBP, 600140; KMT2D, 602113; KMT2C, 606833; BRD9 (618465); SMARCA4, 603254; and CHD3, 602120) and signaling, including MAPK1 (176948), BRAF (164757), CARD11, and PRKG1 (176894) mutations driving increased MAPK, NF-kappa-B (see 164011), and NFAT (see 600490) activity upon T cell receptor stimulation.
Inheritance \- Familial aggregation without simple mendelian pattern Lymphatics \- Lymphadenopathy Skin \- Malignant T-cell skin lymphoma \- Erythema \- Skin scaling \- Pruritus \- Psoriasiform dermatitis \- Eczematous dermatitis \- Indurated skin plaques \- Skin tumors ▲ 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
|
MYCOSIS FUNGOIDES
|
c0026948
| 27,950 |
omim
|
https://www.omim.org/entry/254400
| 2019-09-22T16:24:41 |
{"doid": ["8691"], "mesh": ["D009182"], "omim": ["254400"], "icd-9": ["202.1"], "icd-10": ["C84.0", "C84.00"], "orphanet": ["2584"], "synonyms": ["Mycosis fungoides, Alibert-Bazin type"]}
|
Gnathodiaphyseal dysplasia is a disorder that affects the bones. People with this condition have reduced bone mineral density (osteopenia), which causes the bones to be unusually fragile. As a result, affected individuals typically experience multiple bone fractures in childhood, often from mild trauma or with no apparent cause.
While most bone tissue is less dense than normal in gnathodiaphyseal dysplasia, the outer layer (cortex) of the shafts of the long bones in the arms and legs is abnormally hard and thick (diaphyseal sclerosis). Bowing of the long bones also occurs in this disorder.
Jaw problems are common in gnathodiaphyseal dysplasia; the prefix "gnatho-" in the condition name refers to the jaw. Affected individuals may develop bone infections (osteomyelitis) in the jaw, which can lead to pain, swelling, discharge of pus from the gums, loose teeth, and slow healing after teeth are lost or extracted. Areas of the jawbone may lose the protective coverage of the gums, which can result in deterioration of the exposed bone (osteonecrosis of the jaw). Also, normal bone in areas of the jaw may be replaced by fibrous tissue and a hard material called cementum, which normally surrounds the roots of teeth and anchors them in the jaw. These areas of abnormal bone, called cementoosseous lesions, may be present at birth or develop later in life.
When gnathodiaphyseal dysplasia was first described, it was thought to be a variation of another bone disorder called osteogenesis imperfecta, which is also characterized by frequent bone fractures. However, gnathodiaphyseal dysplasia is now generally considered to be a separate condition. Unlike in osteogenesis imperfecta, the fractures in gnathodiaphyseal dysplasia heal normally without causing deformity or loss of height.
## Frequency
The prevalence of gnathodiaphyseal dysplasia is unknown, but it is thought to be a rare disorder. A few affected individuals and families have been described in the medical literature.
## Causes
Gnathodiaphyseal dysplasia is caused by mutations in the ANO5 gene, which provides instructions for making a protein called anoctamin-5. While the specific function of this protein is not well understood, it belongs to a family of proteins, called anoctamins, that act as chloride channels. Studies suggest that most anoctamin channels are turned on (activated) in the presence of positively charged calcium atoms (calcium ions); these channels are known as calcium-activated chloride channels. The mechanism for this calcium activation is unclear.
The ANO5 gene mutations that have been identified in people with gnathodiaphyseal dysplasia change single protein building blocks (amino acids) in the anoctamin-5 protein. It is unclear how these protein changes lead to the fragile bones, jaw problems, and other skeletal abnormalities that occur in gnathodiaphyseal dysplasia. Researchers suggest that the mutations may affect the way cells process calcium, an important mineral in bone development and growth.
### Learn more about the gene associated with Gnathodiaphyseal dysplasia
* ANO5
## 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.
*[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
|
Gnathodiaphyseal dysplasia
|
c1833736
| 27,951 |
medlineplus
|
https://medlineplus.gov/genetics/condition/gnathodiaphyseal-dysplasia/
| 2021-01-27T08:25:44 |
{"gard": ["8698"], "mesh": ["C536039"], "omim": ["166260"], "synonyms": []}
|
Fryns et al. (1990) described a family in which 4 (3 males and 1 female) of 12 children from healthy, nonconsanguineous parents had a combination of moderate mental retardation, peculiar craniofacial dysmorphism, hypergonadotropic hypogonadism, eunuchoid habitus, diabetes mellitus, and epilepsy. All were investigated as adults. The diabetes was type I beginning in the teens. The craniofacial features included a narrow-based but broad nose with coloboma of the alae nasi, deep-set eyes, and a long face with relative mandibular prognathism.
GU \- Hypergonadotrophic hypogonadism Neuro \- Moderate mental retardation \- Seizures Metabolic \- Diabetes mellitus Inheritance \- Autosomal recessive Skel \- Eunuchoid habitus HEENT \- Craniofacial dysmorphism \- Narrow-based broad nose \- Coloboma of alae nasi \- Deep-set eyes \- Long face \- Relative mandibular prognathism ▲ 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
|
MENTAL RETARDATION SYNDROME, BELGIAN TYPE
|
c1855303
| 27,952 |
omim
|
https://www.omim.org/entry/249599
| 2019-09-22T16:25:28 |
{"mesh": ["C537447"], "omim": ["249599"], "orphanet": ["3044"]}
|
Loiasis is a form of filariasis (see this term), caused by the parasitic worm Loa loa, endemic to the forest and savannah regions of Central and Western Africa. Loiasis may either be asymptomatic or manifest as a large, transient area of localized, non-erythematous subcutaneous edema (Calabar swellings), adult worm migration through the sub-conjunctiva (''African eye worm'') and pruritus. Generalized itching, hives, muscle pains, arthralgias, fatigue, and adult worms visibly migrating under the surface of the skin may be observed. Severe complications such as encephalopathy have been reported in highly infected individuals receiving ivermectin during mass drug administration programs for the control of onchocerciasis and lymphatic filariasis (see these terms).
*[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
|
Loiasis
|
c0023968
| 27,953 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2404
| 2021-01-23T17:33:52 |
{"gard": ["3283"], "mesh": ["D008118"], "umls": ["C0023968"], "icd-10": ["B74.3"]}
|
A rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas.
## Epidemiology
Less than 100 cases have been reported worldwide. Carney's triad primarily affects young women (mean age of onset 20 years).
## Clinical description
Most patients initially present with two of the three tumors (incomplete Carney's triad). The main symptoms at presentation are gastrointestinal bleeding, epigastric pain, anemia and palpable abdominal mass. These symptoms are related to the GIST, which occur in 99% of cases. Additional features include headaches, fatigue, anorexia, hypertension and tachycardia. Pulmonary chondromas (well-differentiated benign cartilaginous tumors) occur in approximately 80% of cases. They are often asymptomatic and may be unilateral (83%) or bilateral (32%). Secreting paragangliomas (typically extraadrenal and most often mediastinal) occur in approximately 50% of patients.
## Etiology
The etiology is not completely understood. Impaired succinate dehydrogenase (SDH) function resulting from chromosomal losses (but not mutations) has been detected in some patients with Carney's triad, while SDHD, SDHB or SDHC germline mutations have been found in some patients with Carney-Stratakis dyad (see this term).
## Diagnostic methods
Gastroscopy, radiography and computing tomography are the main diagnostic methods. SDH genetic testing is available. The absence of a paraganglioma, which usually completes the triad after several years (median: 6 years), does not allow exclusion of the diagnosis of Carney's triad. Iodine 131-metoiodobenzylguanidine scintigraphy and Octrescan® may help to detect paragangliomas.
## Differential diagnosis
The differential diagnosis should include Carney-Stratakis dyad.
## Management and treatment
The treatment of choice for GIST and its metastases (overall rate: 50%) is surgical resection. GIST associated with Carney's triad are mostly indolent. Recurrence after surgery is found in approximately 50% of patients, with a mean interval after the initial presentation of 12 years. Imatinib mesylate, an effective agent in the treatment of GIST, is under investigation as an adjuvant treatment. Paragangliomas require surgical resection; chemotherapy and metabolic radiotherapy may be used in malignant cases (overall rate: 10%). Surgery for pulmonary chondromas is indicated only in case of impaired lung function. Approaches targeting SDH function may potentially be useful in treating patients with Carney's triad who show SDH deficiencies. However, at present, there is no drug that restores SDH function. Life-long follow-up should be offered to all patients with Carney's triad.
*[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
|
Carney triad
|
c1858592
| 27,954 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=139411
| 2021-01-23T18:46:28 |
{"gard": ["10924"], "mesh": ["C565803"], "omim": ["604287"], "umls": ["C1858592"], "icd-10": ["D44.8"]}
|
An adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males.
## Epidemiology
X-ALD estimated birth incidence is 1/20,000. Adrenomyeloneuropathy (AMN) manifests in more than 60% of female patients in adulthood and nearly all male patients who reach adulthood.
## Clinical description
Initial neurologic symptoms reflecting involvement of spinal cord present most often in young men (20-30 years) with lower limb weakness, difficulties to run, gait imbalance due to sensory ataxia, sphincter disturbances and impotence and are slowly progressive. Clinical symptoms of peripheral neuropathy are rare. Sparse scalp hair may develop in teens and adrenocortical insufficiency (AI) may be present prior to neurological symptoms. AI is often latent, lacking melanoderma, but may present as fatigue, nausea, or even acute primary adrenal insufficiency (see this term). Hypogonadism may also manifest in adult males and impairment in spermatogenesis has been reported in some cases. Onset in women is later (40-50 years), AI is rare (1%) and disease progression is generally less severe. Increased risk of psychiatric morbidity has been reported. Depression is often observed in patients with severe motor disability.
## Etiology
AMN is due to mutations of ABCD1 (Xq28) encoding ALDP, a peroxisomal transmembrane protein involved in the transport of very long-chain fatty acid-CoA esters (VLCFA) into the peroxisome. Oxidative stress and damage to proteins and lipids due to VLCFA accumulation in glial cells (oligodendrocytes, Schwann cells) may impair their capacity to sustain axonal integrity in spinal cord and peripheral nerves.
## Diagnostic methods
Genetic testing must be preceded in men by testing for high plasma concentrations of VLCFA. Spinal cord MRI shows non-specific atrophy lacking gadolinium enhancement; magnetization transfer or diffusion tensor-based imaging may reveal more abnormalities. Electromyography and nerve conduction velocities may demonstrate polyneuropathy. Brain MRI may reveal abnormalities in the pyramidal tracts in brainstem and internal capsules. Heterozygous women may have normal plasmatic levels of VLCFAs; genetic testing is therefore mandatory.
## Differential diagnosis
Differential diagnoses include hereditary spastic paraplegias, primary lateral sclerosis, cerebrotendinous xanthomatosis, metachromatic leukodystrophy and Krabbe disease (see these terms) as well as difficiencies in vitamin B12, folic acid or copper. AI symptoms may ressemble Addison Disease (see this term).
## Antenatal diagnosis
Gestational chorionic villus sampling (10-13 weeks), amniocentesis (15-18 weeks) and pre-implantation genetic testing are feasible.
## Genetic counseling
Transmission is via the X chromosome, counseling and genetic testing must be offered to the parents and extended family of those affected both to detect carriers and to follow the presymptomatic. All daughters of AMN males will be heterozygous.
## Management and treatment
Treatment for myelopathy is symptomatic. An annual or bi-annual evaluation by a neurologist for treatment of spasticity and neuropathic pain and referral to a urologist are recommended. Plasma testosterone, cortisol, mineralocorticoids, ACTH levels and ACTH stimulation reponses must be tested regularly and replacement therapy may be required. In adult males with AMN, a yearly brain MRI must be performed to detect early signs of cerebral demyelination and propose allogeneic hematopoietic stem cell transplantation if a donor is available.
## Prognosis
A marked progression of myelopathy within the first 3-5 years of onset is observed in 35% of patients, others progress more slowly. Within 10-15 years, motor disability may become severe requiring aid for locomotion. Some patients (35% of men, 2% of women) develop additional cerebral demyelination entering into an active phase of neuroinflammation in the brain (X-CALD, see this term).
*[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
|
Adrenomyeloneuropathy
|
c1527231
| 27,955 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=139399
| 2021-01-23T18:21:18 |
{"gard": ["10614"], "mesh": ["D000326"], "omim": ["300100"], "umls": ["C1527231"], "icd-10": ["E71.3"]}
|
Erythroid dysplasia
SpecialtyHematology
Erythroid dysplasia is a condition in which immature red blood cells (erythroid cells) in the bone marrow are abnormal[1] in size and/or number. Erythroid dysplasia may be caused by vitamin deficiency or chemotherapy, or it may be a sign of refractory anemia, which is a myelodysplastic syndrome. Also called erythrodysplasia.
## References[edit]
1. ^ "NCI Dictionary of Cancer Terms". National Cancer Institute. 2 February 2011. Retrieved 15 March 2019.
## External links[edit]
* Erythroid dysplasia entry in the public domain NCI Dictionary of Cancer Terms
This article incorporates public domain material from the U.S. National Cancer Institute document: "Dictionary of Cancer Terms".
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This oncology 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
|
Erythroid dysplasia
|
c3839772
| 27,956 |
wikipedia
|
https://en.wikipedia.org/wiki/Erythroid_dysplasia
| 2021-01-18T18:41:27 |
{"umls": ["C3839772", "C2987488"], "wikidata": ["Q5396472"]}
|
Familial colon cancer is a cluster of colon cancer within a family. Most cases of colon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered "hereditary" and is thought to be caused by an inherited predisposition to colon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes (mutations) in the APC, MYH, MLH1, MSH2, MSH6, PMS2, EPCAM, PTEN, STK11, SMAD4, BMPR1A, NTHL1, POLE, and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories.
*[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 colorectal cancer
|
c1527249
| 27,957 |
gard
|
https://rarediseases.info.nih.gov/diseases/8533/familial-colorectal-cancer
| 2021-01-18T18:00:35 |
{"mesh": ["D015179"], "omim": ["114500"], "synonyms": ["Colorectal cancer, familial"]}
|
Hypodysfibrinogenemia
Other namesCongenital hypodysfibrinogenemia
SpecialtyHematology
Hypodysfibrinogenemia, also termed congenital hypodysfibrinogenemia, is a rare hereditary fibrinogen disorder cause by mutations in one or more of the genes that encode a factor critical for blood clotting, fibrinogen. These mutations result in the production and circulation at reduced levels of fibrinogen at least some of which is dysfunctional.[1] Hypodysfibrinogenemia exhibits reduced penetrance, i.e. only some family members with the mutated gene develop symptoms.[2][3]
The disorder is similar to a form of dysfibrinogenemia termed congenital dysfibrinogenemia. However, congenital dysfibrinogenemia differs form hypodysfibrinogenemia in four ways. Congenital dysfibrinogenemia involves: the circulation at normal levels of fibrinogen at least some of which is dysfunctional; a different set of causative gene mutations; a somewhat different mix of clinical symptoms; and a much lower rate of penetrance.[2][3]
Hypodysfibrinogenemia causes episodes of pathological bleeding and thrombosis due not only to low levels of circulating fibrinogen but also to the dysfunction of a portion of the circulating fibrinogen. The disorder can lead to very significant bleeding during even minor surgical procedures and women afflicted with the disorderoften suffer significant bleeding during and after giving child birth, higher rates of miscarriages, and menorrhagia, i.e. abnormally heavy bleeding during the menstrual period.[1]
## Contents
* 1 Presentation
* 2 Fibrinogen
* 3 Pathophysiology
* 4 Diagnosis
* 5 Treatment
* 6 References
## Presentation[edit]
In a study of 32 individuals diagnosed with hypodysfibrinogenemia, 41% presented with episodic bleeding, 43% presented with episodic thrombosis, and 16% were asymptomatic, being detected by abnormal blood tests.[2] Bleeding and thrombosis generally begin in adulthood with the average age at the time of presentation and diagnosis being 32 years. Bleeding is more frequent and severe in women of child-bearing age; these women may suffer miscarriages, menometrorrhagia, and excessive bleeding during child birth and/or the postpartum period. Excessive bleeding following major or minor surgery, including dental extractions, occurs in both females and males with the disorder. Thrombotic complications of the disorder are often (~50%) recurrent and can involve central and peripheral arteries, deep and superficial veins. Thrombotic events may be serious and involve occlusion of a cerebral artery leading to stroke, splanchnic venous thrombosis, and pulmonary thrombosis presumptively secondary to deep vein thrombosis.[1]
## Fibrinogen[edit]
Circulating fibrinogen is a glycoprotein made of two trimers each of which is composed of three polypeptide chains, Aα (also termed α) encoded by the FGA gene, Bβ (also termed β) encoded by the FGB gene, and γ encoded by the FGG gene. All three genes are located on the long or "q" arm of human chromosome 4 (at positions 4q31.3, 4q31.3, and 4q32.1, respectively) and are the sites where mutations occur that code for a dysfunctional fibrinogen and/or reduced fibrinogen levels which are the cause of congenital hypodysfibrinogenemia.[4][5]
## Pathophysiology[edit]
Congenital hypodysfibrinogenemia is inherited as an autosomal dominant disorder caused by at least 32 different types of single mutations. Ten of these mutations are in the FGA gene, 5 in the FGB gene, and 17 in the FGG gene. The mutations are mainly missense mutations with nonsense and Frameshift mutations each occurring in 12.5% of cases.[1] The causes of two fibrinogen abnormalities that characterize hypodysfibrinogenemia, i.e. circulation at reduced levels of fibrinogen at least some of which is dysfunctional, reflect different molecular mechanisms:[4]
1. A heterozygous mutation in one of the two copies of either the FGA, FGB, or FGG gene leads to production of a fibrinogen that is both dysfunctional and poorly secreted into the blood stream, e.g. fibrinogen Vlissingen, fibrinogen Philadelphia, and fibrinogen Freiburg.
2. A homozygous mutation in both copies of one of the cited genes leads to production of a fibrinogen that is both dysfunctional and poorly secreted into the blood stream, e.g. fibrinogen Otago, fibrinogen Marburg, and fibrinogen Sfax.
3. Two different mutations (see Compound heterozygosity) occur in each of the two copies of one of the cited genes, with one mutation coding for reduced formation of a functionally normal circulating fibrinogen and the second mutation coding for the circulation of a dysfunctional fibrinogen, e.g. fibrinogen Leipzig.
4. Two different mutations occur in one copy of the cited genes, with one mutation causing hypofibrinogenemia and the other mutation coding for a dysfunctional fibrinogen, e.g. fibrinogen Keokuk.
The following Table adds further information on the just cited examples of hypodysfibrinogenemias. The Table gives: a) each mutated protein's trivial name; b) the gene mutated (i.e. FGA, FGB, or FGG), its mutation site (i.e. numbered nucleotide in the cloned gene), and name of the nucleotides (i.e. C, T, A, G) at these sites before>after the mutation; c) the name of the altered fibrinogen peptide (Aα, Bβ, or λ) and the amino acids (using standard abbreviations) occurring before-after the mutation at the numbered amino acid(s) sites in the circulating mutated fibrinogen; d) the pathophysiology for the mutated fibrinogen's misfunction(s); and e) the clinical consequence(s) of the mutation. Unless noted as a deletion (del) or frame shift (fs), all mutations are missense or nonsense mutations.[1][4] A nonsense mutation causing a premature stop codon and thereby a shorten polypeptide chain is notated by an X (PSC) after the altered amino acid codon.
Trivial name Gene: mutation Polypeptide chain: mutation Pathophysiology Clinical disorder
fibrinogen Otago FGA: c.858_859incC Aα: Arg268Gln followed by fs impaired secretion; defective polymerization post-surgical and post-partum bleeding, recurrent miscarriages
fibrinogen Marburg FGA: c.1438A>T Aα: Lys461X (PSC) defective polymerization post-partum bleeding, recurrent venous thrombosis
fibrinogen Keokuk FGA: c.510 +1 G>T; FGA c.1039C>T (PSC) Aα: splice mutation; Aα: Gln321X (PSC) impaired fibrinogen assembly, poor fibrin clot lysis, defective polymerization recurrent venous and arterial thromboses
fibrinogen Sfax FGB: c.679T>C Bβ: Cys197Arg defective aggregation of fibrin post-surgical and postpartum bleeding, metrorrhagia during pregnancy
fibrinogen Vlissingen FGG: c.1033_1038del γ: delAsn319-Asp-320 impaired secretion, defective calcium binding, defective polymerization venous thrombosis
fibrinogen Philadelphia FGG: c.1210T>C γ: Ser378Pro impaired assembly of intracelllar fibrinogen, defective polymerization post-surgical, postpartum, and post-trauma bleeding
fibrinogen Freiburg FGG: c.103C>T γ: Arg16Cys impaired assembly of intracelllar fibrinogen, defective polymerization recurrent venous and arterial thromboses
fibrinogen Leipzig II FGG: c.323C>G and FGG c.1129G>A γ: Ala108Gly and λ: Gly377Ser impaired assembly of intracelllar fibrinogen, defective polymerization recurrent venous and arterial thromboses
## Diagnosis[edit]
Hypodysfibrinogenemia is usually diagnosed in individuals who: have a history of abnormal bleeding or thrombosis or are a close blood relative of such an individual. Initial laboratory findings include a decrease in serum fibrinogen mass levels as measured by immunoassay plus a reduction in inducible blood clot formation so that the ratio of functionally-detected fibrinogen mass (i.e. detected in induced clots) to immunoassay-detected fibrinogen mass is abnormally low, i.e. <0.7. This contrast with individuals with congenital dysfibrinogenemia who exhibit normal levels of fibrinogen as measured by immunoassay but low functionally-detected to immunoassay-detected fibrinogen mass ratios, i.e. <0.7. Where available, specialized laboratories can conduct studies to define the exact gene mutation(s) and fibrinogen abnormalities underlying the disorder.[1][2][6]
## Treatment[edit]
Blood relatives of the proband case should be evaluated for the presence of hypodysfibrinogenemia. Individuals with the disorder need to be advised on its inheritance, complications, and preventative measures that can be taken to avoid bleeding and/or thrombosis. Since >80% of individuals may develop bleeding or thrombosis complications of the disorder, asymptomatic individuals diagnosed with hydposyfibrinogenemia are best handled at a specialized center in order to benefit from multidisciplinary management.[2]
Measures to prevent and/or treat complications of hypodysfibrinogenemia should be tailored to the personal and family history of the individual by a specialized center. Individuals with a personal or family history of bleeding are considered to be of low risk of bleeding when their functional fibrinogen levels are >1 gram/liter for major surgery, >0.5 gram/liter for minor surgery, >0.5 to 1-2 gram/liter for spontaneous bleeding (depending on its severity), >0.5 to > 1 gram/liter for the first two trimesters of pregnancy, and >1 to <2 gram/liter for the last trimester of pregnancy and postpartum period. Functional fibrinogen below these levels should be treated preferably with fibrinogen concentrate or if not available, fibrinogen-rich cryoprecipitate or plasma to attain low risk levels of functional fibrinogen.[2] Antifibrinolytic drugs such as tranexamic acid or (ε-aminocaproic acid) may be considered as an alternative preventative or therapeutic treatments in cases of minor surgery, dental extractions, mucosal bleeding, or other episodes of mild bleeding.[2][4] In individuals with a personal or family history of thrombosis, should be considered for long-term anticoagulation drugs such as low molecular weight heparin, coumadin, or rivaroxaban.[2]
## References[edit]
1. ^ a b c d e f Casini A, Brungs T, Lavenu-Bombled C, Vilar R, Neerman-Arbez M, de Moerloose P (2017). "Genetics, diagnosis and clinical features of congenital hypodysfibrinogenemia: a systematic literature review and report of a novel mutation". Journal of Thrombosis and Haemostasis. 15 (5): 876–888. doi:10.1111/jth.13655. PMID 28211264.
2. ^ a b c d e f g h Casini A, de Moerloose P, Neerman-Arbez M (2016). "Clinical Features and Management of Congenital Fibrinogen Deficiencies". Seminars in Thrombosis and Hemostasis. 42 (4): 366–74. doi:10.1055/s-0036-1571339. PMID 27019462.
3. ^ a b Caimi G, Canino B, Lo Presti R, Urso C, Hopps E (2017). "Clinical conditions responsible for hyperviscosity and skin ulcers complications" (PDF). Clinical Hemorheology and Microcirculation. 67 (1): 25–34. doi:10.3233/CH-160218. hdl:10447/238851. PMID 28550239.
4. ^ a b c d Neerman-Arbez M, de Moerloose P, Casini A (2016). "Laboratory and Genetic Investigation of Mutations Accounting for Congenital Fibrinogen Disorders". Seminars in Thrombosis and Hemostasis. 42 (4): 356–65. doi:10.1055/s-0036-1571340. PMID 27019463.
5. ^ Duval C, Ariëns RA (2017). "Fibrinogen splice variation and cross-linking: Effects on fibrin structure/function and role of fibrinogen γ' as thrombomobulin II" (PDF). Matrix Biology. 60–61: 8–15. doi:10.1016/j.matbio.2016.09.010. PMID 27784620.
6. ^ Casini A, Neerman-Arbez M, Ariëns RA, de Moerloose P (2015). "Dysfibrinogenemia: from molecular anomalies to clinical manifestations and management". Journal of Thrombosis and Haemostasis. 13 (6): 909–19. doi:10.1111/jth.12916. PMID 25816717.
*[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
|
Hypodysfibrinogenemia
|
c0272350
| 27,958 |
wikipedia
|
https://en.wikipedia.org/wiki/Hypodysfibrinogenemia
| 2021-01-18T19:02:15 |
{"mesh": ["C562727"], "umls": ["C0272350"], "orphanet": ["248408"], "wikidata": ["Q42417349"]}
|
A number sign (#) is used with this entry because of evidence that autosomal dominant mental retardation-40 (MRD40) is caused by de novo heterozygous mutation in the CHAMP1 gene (616327) on chromosome 13q34.
Clinical Features
The Deciphering Developmental Disorders Study (2015) identified 2 patients with intellectual disability: 1 patient was a boy who also had obstructive sleep apnea, supernumerary nipples, and plagiocephaly, and the other was a girl with global developmental delay, joint hypermobility, abnormality of the renal collecting system and central nervous system, incoordination, and diastasis recti.
Hempel et al. (2015) reported 5 unrelated patients with intellectual disability and severe speech impairment. The patients presented with feeding difficulties and hypotonia in the neonatal period, and thereafter showed delayed psychomotor development. All had moderate to severe intellectual disability with absent or very poor speech acquisition. Dysmorphic features were subtle and somewhat variable, but included microcephaly, long face and open mouth due to orofacial hypotonia, epicanthal folds, strabismus, upslanting palpebral fissures, short philtrum, tented upper lip, everted lower lip, high-arched palate, pointed chin, and low-set ears. Additional variable features included hyperopia, decreased pain sensation, recurrent upper respiratory tract infections, ataxic gait, stereotypic movements, and joint hypermobility. Brain imaging was normal in 3 patients, whereas 1 patient had mild brain atrophy and cerebellar cortical dysplasia and another had slightly delayed myelination. The patients had a friendly personality. One of the patients had been reported by Rauch et al. (2012).
Molecular Genetics
Using a combination of exome sequencing and array-based detection of chromosomal rearrangements, the Deciphering Developmental Disorders Study (2015) examined 1,133 children with severe undiagnosed developmental disorders and their parents. The authors identified 2 patients with autosomal dominant mental retardation-40 (MRD40), dysmorphic features, and congenital anomalies who had de novo loss-of-function mutations in the CHAMP1 gene (616327.0001-616327.0002). No functional studies were performed.
In 5 unrelated patients with MRD40, Hempel et al. (2015) identified 4 different de novo heterozygous truncating mutations in the CHAMP1 gene (616327.0003-616327.0006). The mutations were found by exome sequencing and confirmed by Sanger sequencing. Functional studies of the variants were not performed, but all were predicted to result in a truncated protein lacking the functionally important C terminal domain which regulates CHAMP1 localization to chromosomes and the mitotic spindle, thereby providing a mechanistic understanding for their pathogenicity. One of the patients had been reported by Rauch et al. (2012).
INHERITANCE \- Autosomal dominant HEAD & NECK Head \- Microcephaly (-2 to -3 SD) (in some patients) Face \- Variable dysmorphic features \- Hypotonic facies \- Long face \- Short philtrum \- Pointed chin Ears \- Low-set ears Eyes \- Upslanting palpebral fissures \- Epicanthal folds \- Strabismus \- Hyperopia Mouth \- Open mouth \- Tented upper lip \- Everted lower lip \- High-arched palate RESPIRATORY \- Recurrent respiratory infections ABDOMEN Gastrointestinal \- Feeding difficulties \- Gastroesophageal reflux SKELETAL \- Joint hypermobility MUSCLE, SOFT TISSUES \- Hypotonia NEUROLOGIC Central Nervous System \- Delayed psychomotor development \- Intellectual disability, moderate to severe \- Poor or absent speech \- Ataxic gait \- Decreased pain sensation Behavioral Psychiatric Manifestations \- Friendly personality \- Stereotypic behavior \- Autistic features (in some patients) MISCELLANEOUS \- Onset at birth \- De novo mutation MOLECULAR BASIS \- Caused by mutation in the chromosome alignment-maintaining phosphoprotein 1 gene (CHAMP1, 616327.0001 ) ▲ 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
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 40
|
c4225275
| 27,959 |
omim
|
https://www.omim.org/entry/616579
| 2019-09-22T15:48:37 |
{"doid": ["0070070"], "omim": ["616579"], "orphanet": ["178469"], "synonyms": []}
|
A number sign (#) is used with this entry because this form of peroxisome biogenesis disorder (PBD8B) is caused by homozygous mutation in the PEX16 gene (603360) on chromosome 11p11.
Mutations in PEX16 also cause Zellweger syndrome (PBD8A; 614876).
Description
The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).
For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see 601539.
Individuals with mutations in the PEX16 gene have cells of complementation group 9 (CG9, equivalent to CGD). For information on the history of PBD complementation groups, see 214100.
Clinical Features
Ebberink et al. (2010) studied 6 patients, including 1 previously reported by Pineda et al. (1999), with a relatively mild peroxisome biogenesis disorder. Two sibs presented between age 1 and 2 years with delayed walking and frequent falls after normal initial development. The disorder was progressive and was characterized by lower limb spasticity and ataxia resulting in wheelchair dependence in the first decade. Other features included optic atrophy, cataracts, dysarthria, dysphagia, constipation, and a peripheral demyelinating motor and sensory neuropathy. Brain imaging showed progressive white matter abnormalities involving many brain regions. Cognition was relatively preserved. Studies of skin fibroblasts showed that peroxisomes were markedly enlarged in size and reduced in number compared to controls. However, biochemical studies showed only mild abnormalities, such as increased very long chain fatty acids (VLCFA), increased bile acid intermediates, and increased branched chain fatty acids (only found in 1 sib). Phytanic acid alpha-oxidation, pristanic acid beta-oxidation, and red cell plasmalogen were normal. Peroxisomal enzymes were normal, and the peroxisomes were import-competent. The other patients displayed similar symptoms.
Molecular Genetics
In 6 patients with a mild PBD, Ebberink et al. (2010) sequenced all known PEX genes and identified mutations in PEX16 in each patient (603360.0003-603360.0005). Expression of wildtype PEX16 restored the number and size of peroxisomes in patient fibroblasts to normal. Ebberink et al. (2010) emphasized that even though PEX16 is involved in peroxisomal membrane assembly, PEX16 defects can present with a relatively mild phenotype showing import-competent peroxisomes in fibroblasts.
INHERITANCE \- Autosomal recessive GROWTH Other \- Failure to thrive HEAD & NECK Eyes \- Small and delayed visual evoked potentials (VEPs) \- Cataracts \- Nystagmus \- Abnormal saccades \- Optic atrophy ABDOMEN Gastrointestinal \- Constipation \- Dysphagia necessitating gastrostomy feeding (1 patient) GENITOURINARY Bladder \- Difficulty emptying bladder NEUROLOGIC Central Nervous System \- Ataxia \- Spastic paraparesis \- Spasticity (particularly of lower limbs) \- Tiptoe gait \- Brisk tendon reflexes \- Dysarthria \- Dysmetria \- Dysphagia \- Cognitive impairment, mild \- Reduced cerebral volume \- Reduced cerebellar volume \- Cerebellar vermis atrophy \- Corpus callosum atrophy \- Mild cerebellar signs (onset age 9 years) \- Progressive leukodystrophy Peripheral Nervous System \- Demyelinating motor and sensory neuropathy seen on EMG and peripheral nerve velocity studies LABORATORY ABNORMALITIES \- Markedly enlarged, incompetent peroxisomes in fibroblasts \- Reduced numbers of peroxisomes in fibroblasts \- Elevated very long chain fatty acids (VLCFA) \- Elevated phytanic acid \- Elevated pristanic acid \- Elevated C27 bile acid intermediates \- Docosahexaenoic acid (DHA) deficiency \- Normal plasmalogen levels in erythrocytes \- Normal immunoblot profile MISCELLANEOUS \- Normal growth and development in first year of life \- Progressive disorder \- Patients become wheelchair bound MOLECULAR BASIS \- Caused by mutation in the peroxisome biogenesis factor 16 gene (PEX16, 603360.0003 ) ▲ 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
|
PEROXISOME BIOGENESIS DISORDER 8B
|
c0282527
| 27,960 |
omim
|
https://www.omim.org/entry/614877
| 2019-09-22T15:53:51 |
{"mesh": ["D052919"], "omim": ["614877"], "orphanet": ["772", "44"]}
|
A number sign (#) is used with this entry because autosomal recessive familial hypercholesterolemia-4 (FHCL4) is caused by homozygous or compound heterozygous mutation in the ARH gene (LDLRAP1; 605747) on chromosome 1p36.
Description
Autosomal recessive familial hypercholesterolemia-4 (FCHL4) is a rare monogenic disease characterized by very high levels of low-density lipoprotein (LDL) cholesterol (usually above 400 mg/dl) and increased risk of premature atherosclerotic cardiovascular disease (summary by Sanchez-Hernandez et al., 2018).
Clinical Features
Zuliani et al. (1995) described a consanguineous Sardinian family in which a brother and sister had a severe form of hypercholesterolemia with the clinical features of familial hypercholesterolemia (FH; 143890) homozygotes, including severely elevated plasma low density lipoprotein (LDL) cholesterol, tuberous and tendon xanthomata, and premature atherosclerosis. However, LDL receptor (LDLR; 606945) activity measured in skin fibroblasts was normal, as was LDL binding ability. Haplotype segregation analysis excluded involvement of the LDLR and apolipoprotein B (APOB; 107730) genes in the pathogenesis of the disorder. Consanguinity, absence of vertical transmission, and bimodal distribution of plasma cholesterol levels in the kindred were consistent with autosomal recessive inheritance. Sitosterolemia (210250) and pseudohomozygous hyperlipidemia (see 144250) were ruled out.
Zuliani et al. (1999) identified a second Sardinian kindred with similar characteristics. The probands showed severe hypercholesterolemia, whereas their parents and grandparents were normolipidemic. FH, familial defective apoB, sitosterolemia, and cholesteryl ester storage disease (278000) were excluded by in vitro studies. By LDL turnover studies, the authors found a marked reduction in the fractional catabolic rate and a significant increase in the production rate of LDL apoB in the probands compared with normolipidemic controls. The probands also showed a significant reduction in hepatic LDL uptake, similar to that observed in the FH homozygote studied in parallel. A reduced uptake of LDL by the kidney and spleen was also observed in all patients. These findings suggested that this recessive form of hypercholesterolemia is due to a marked reduction of in vivo LDL catabolism. This appeared to be caused by a selective reduction in hepatic LDL uptake. Zuliani et al. (1999) proposed that in this new lipid disorder, a recessive defect causes a selective impairment of LDLR function in the liver. In a note added in proof, Zuliani et al. (1999) stated that 4 'new' Sardinian families with the characteristics of familial recessive hypercholesterolemia had been identified. In all probands, the LDLR activities in fibroblasts as well as the binding ability of LDL to the LDLR were normal.
Schmidt et al. (1998) identified a 38-year-old male patient with the clinical expression of homozygous familial hypercholesterolemia presenting as severe coronary artery disease, tendon and skin xanthomas, arcus lipoides, and joint pain. They concluded that the disorder was autosomal recessive. Serum concentrations of cholesterol responded well to diet and statins. There was no evidence of an abnormal LDL-APOB particle, which was isolated from the patient by use of the U937 proliferation assay as a functional test of the LDL binding capacity. APOB-3500 and APOB-3531 defects were ruled out by PCR, and there was no evidence for a defect within the LDLR by skin fibroblast analysis, linkage analysis, SSCP, and Southern blot screening across the entire LDLR gene. The in vivo kinetics of radioiodinated LDL-APOB were evaluated in the proband and 3 normal controls. The LDL-APOB isolated from the patient showed normal catabolism, confirming an intact LDL particle. In contrast, the fractional catabolic rate of autologous LDL in the subject and normal controls revealed remarkably delayed catabolism of the patient's LDL. The elevation of LDL cholesterol in the patient resulted from an increased production rate with 22.8 mg/kg per day vs 12.7 to 15.7 mg/kg per day. The authors concluded that there is another catabolic defect beyond the APOB and LDLR genes causing familial hypercholesterolemia.
Norman et al. (1999) identified apparently recessive familial hypercholesterolemia in 2 kindreds, one of Turkish origin and the other of Asian-Indian origin. The index patient of the Turkish family had a longstanding presumptive diagnosis of homozygous FH based on a raised plasma cholesterol concentration, the presence of extensive cutaneous xanthomata in the webs of her fingers and creases of her hands, and tendon xanthomata from an early age, as well as supravalvular aortic stenosis and premature coronary heart disease. The clinical characteristics of this woman were described in detail by Rallidis et al. (1996). A sib and a double first cousin were also affected. The affected individuals were the offspring of a first-cousin marriage in each case. All 4 parents were apparently unaffected. In the Asian-Indian family, 2 sisters were affected. The parents of this family were also reported to be first cousins, but no additional members of the family were available for study. Cells from the patients in these families exhibited no measurable degradation of LDL in culture. Extensive analysis of DNA and mRNA revealed no defect in the LDL receptor gene, and alleles of the LDLR and apolipoprotein B (APOB; 107730) genes did not cosegregate with hypercholesterolemia in these families. Fluorescence-activated cell sorting (FACS) analysis of binding and uptake of fluorescent LDL or anti-LDLR antibodies showed that LDL receptors were on the cell surface and bound LDL normally, but failed to be internalized, suggesting that some component of endocytosis through clathrin-coated pits was defective. Internalization of the transferrin receptor (190010) occurred normally, suggesting that the defective gene product may interact specifically with the LDL receptor internalization signal. Norman et al. (1999) concluded that identification of the defective gene would aid genetic diagnosis of other hypercholesterolemic patients and elucidate the mechanism by which LDL receptors are internalized, thus suggesting perhaps more appropriate methods of treatment then those currently used for FH patients with known genetic defects.
Mapping
Eden et al. (2001) performed a genomewide scan with polymorphic genetic markers in the 2 families reported by Norman et al. (1999). In both pedigrees, a single region of approximately 12 cM on 1p36-p35, designated FHCB2, fulfilled the criteria for homozygous inheritance of alleles in the affected offspring but not their unaffected sibs. The combined lod score was 5.3 in these unrelated families.
Using 4 ARH families, including 2 previously studied by Zuliani et al. (1995, 1999), Garcia et al. (2001) mapped the ARH locus to a 1-cM interval on chromosome 1p35 extending from D1S1152 to D1S2885. Garcia et al. (2001) identified 6 mutations in a gene encoding a putative adaptor protein (LDLRAP1; 605747) mapping to this region. They found no linkage to 15q25-q26, the locus that Ciccarese et al. (2000) had found to be associated with ARH using one of the same families.
Molecular Genetics
In affected individuals from 6 families with autosomal recessive hypercholesterolemia, including the 2 Sardinian families originally reported by Zuliani et al. (1995) and Zuliani et al. (1999) and a Lebanese family previously described by Khachadurian and Uthman (1973), as well as another Lebanese family, an Iranian family, and an American family, Garcia et al. (2001) identified homozygous mutations in the ARH gene (LDLRAP1; see 605747.0001-605747.0006). The nonsense mutation (W22X; 605747.0001) and 1-bp insertion (605747.0002) that were detected in the 2 original Sardinian families were also identified in homozygosity or compound heterozygosity in 10 additional unrelated Sardinian ARH probands, and neither mutation was found in 50 normolipidemic Sardinians. The authors suggested that the finding of 2 mutations accounting for ARH in 12 Sardinian families represented genetic drift on the island of Sardinia.
Arca et al. (2002) screened the entire coding sequence of LDLRAP1 in 40 unrelated individuals from around the world who had hypercholesterolemia and at least 1 normocholesterolemic parent. They identified 4 Italian probands who were homozygous for the same 1-bp insertion (605747.0002) that had previously been identified in Sardinian patients. No mutations were identified in the other 36 probands.
In a Syrian family with autosomal recessive hypercholesterolemia, Al-Kateb et al. (2002) found evidence for an interaction between loci on 1p36.1-p35 and 13q22-q32 (see cholesterol-lowering factor, 604595). They identified an intron 1 acceptor splice site mutation in the ARH gene (605747.0007) in this family.
In 2 Japanese sibs with ARH, Harada-Shiba et al. (2003) identified homozygosity for a 1-bp insertion in the LDLRAP1 gene (605747.0009).
In 2 affected sibs from a nonconsanguineous Mexican family with autosomal recessive hypercholesterolemia, Canizales-Quinteros et al. (2005) identified homozygosity for a donor splice site mutation in intron 4 of the ARH gene (605747.0008), resulting in a mutant protein with an altered phosphotyrosine-binding (PTB) domain. Both parents and an unaffected sister were heterozygous for the mutation.
Sanchez-Hernandez et al. (2018) reviewed data from the Dyslipidemia Registry of the Spanish Atherosclerosis Society, from published reports of Spanish patients with hypercholesterolemia, and from all diagnostic genetic studies for familial hypercholesterolemia in Spain. They identified 7 Spanish patients with ARH and mutations in the LDLRAP1 gene, including 2 sibs who were previously reported by Quagliarini et al. (2007). One patient, who was compound heterozygous for the missense mutations T218I (605747.0010) and S288L (605747.0011), exhibited a milder phenotype with much lower baseline LDL levels and later diagnosis than the other 6 patients, who were all homozygous for truncating mutations. Sanchez-Hernandez et al. (2018) concluded that ARH is a very rare disease in Spain, with a prevalence of 1 case per 6.5 million people.
### Exclusion Studies
Analysis of the gene defect in large cohorts of patients with a diagnosis of heterozygous FH provided evidence that inherited defects in genes other than those encoding LDLR and APOB can cause the hypercholesterolemia typical of FH. In several of these cohorts, exhaustive analysis of the LDLR gene failed to reveal a defect in about 15% of the patients, and in 2 such studies a family with a sufficiently large pedigree was available to determine that an allele of these genes did not segregate with hypercholesterolemia, suggesting that their defect lay elsewhere (Sun et al., 1997; Haddad et al., 1999).
Animal Model
Jones et al. (2007) examined the synthesis and catabolism of Vldl in mouse models of FH (Ldlr -/-) and ARH (Arh -/-). Despite similar rates of Vldl secretion in response to a high-sucrose diet, the rate of Vldl clearance was significantly higher in Arh-null mice than in Ldlr-null mice, suggesting that LDLR-dependent uptake of VLDL is maintained in the absence of ARH. Hepatocytes from Arh-null mice but not Ldlr-null mice internalized beta-Vldl, demonstrating that ARH is not required for LDLR-dependent uptake of VLDL by the liver. Jones et al. (2007) concluded that the preservation of VLDL remnant clearance attenuates the phenotype of ARH and likely contributes to greater responsiveness to statins in ARH compared with FH.
INHERITANCE \- Autosomal recessive SKIN, NAILS, & HAIR Skin \- Xanthomas LABORATORY ABNORMALITIES \- Hypertriglyceridemia \- Very high low-density lipoprotein (LDL) cholesterol (>400 mg/dL) \- High total cholesterol (>600 mg/dL) MOLECULAR BASIS \- Caused by mutation in the low density lipoprotein receptor adaptor protein 1 gene (LDLRAP1, 605747.0001 ) ▲ 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
|
HYPERCHOLESTEROLEMIA, FAMILIAL, 4
|
c0342881
| 27,961 |
omim
|
https://www.omim.org/entry/603813
| 2019-09-22T16:12:36 |
{"doid": ["0090105"], "omim": ["603813"], "orphanet": ["391665"], "synonyms": ["Alternative titles", "HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE", "HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE, 1, FORMERLY", "FHCB1, FORMERLY", "HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE, 2, FORMERLY", "FHCB2, FORMERLY"]}
|
Anthrax is an infection caused by the bacterium Bacillus anthracis. The severity of the condition, the associated signs and symptoms and the prognosis vary depending on which part of the body is involved (see below). Antibiotics can be used to treat all forms of anthrax. Antitoxin medications may also be used to treat some forms of the condition.
Cutaneous (skin) anthrax occurs when the infection enters the body through a cut or sore on the skin. It is the most common type of anthrax and generally the least serious. Affected people may experience a group of small, itchy bumps; swelling around a sore; and/or a painless ulcer with a black center. These skin abnormalities are generally found on the face, neck, arms, or hands. With appropriate treatment, cutaneous anthrax is seldom fatal.
Gastrointestinal anthrax is caused by eating undercooked meat from an infected animal. Signs and symptoms may include nausea, vomiting, abdominal pain, headache, loss of appetite, fever, and a sore throat.
Pulmonary (lung) anthrax occurs when anthrax spores are inhaled. It is the most deadly form of the condition. Early signs include flu-like symptoms, shortness of breath, nausea, and coughing up blood. As the condition advances, affected people may develop high fever, difficulty breathing, shock, and meningitis. Even with treatment, pulmonary anthrax may be fatal.
Injection anthrax is spread by injecting illegal drugs. Signs and symptoms of this form of anthrax include redness and swelling at the sight of the infection. The condition may progress to shock, multiple organ failure and meningitis.
*[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
|
Anthrax
|
c0003175
| 27,962 |
gard
|
https://rarediseases.info.nih.gov/diseases/8157/anthrax
| 2021-01-18T18:02:04 |
{"mesh": ["D000881"], "synonyms": ["Ragpicker's disease", "Wool sorter's disease", "Black Baine", "Malignant edema", "Malignant pustule", "Siberian Plague"]}
|
Microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) is a genetic condition that is mainly characterized by intrauterine and post-natal growth retardation; an abnormally small head size (microcephaly); abnormal bone growth (skeletal dysplasia); distinctive facial features; and brain anomalies. Other signs and symptoms include sparse hair and eyebrows; dry skin; short limbs; dislocation of the hips and elbows; seizures; and intellectual disability. It is caused by mutations in the RNU4ATAC gene and is inherited in an autosomal recessive manner. Treatment is supportive only. The prognosis is poor with most affected individuals dying within the first year of life. MOPD types 1 and 3 were originally thought to be separate entities, but more recent reports have confirmed that the two forms are part of the same 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
|
Microcephalic osteodysplastic primordial dwarfism type 1
|
c1859452
| 27,963 |
gard
|
https://rarediseases.info.nih.gov/diseases/5120/microcephalic-osteodysplastic-primordial-dwarfism-type-1
| 2021-01-18T17:59:07 |
{"mesh": ["C537577"], "omim": ["210710"], "umls": ["C1859452"], "orphanet": ["2636"], "synonyms": ["MOPD 1", "Microcephalic osteodysplastic primordial dwarfism types 1 and 3", "Osteodysplastic primordial dwarfism type I", "Brachymelic primordial dwarfism", "Taybi-Linder syndrome", "Primordial microcephalic dwarfism, Crachami type", "Cephaloskeletal dysplasia", "Low-birth-weight dwarfism with skeletal dysplasia"]}
|
A rare malignant epithelial tumor of ovary characterized by confluent or cribriform proliferations of round, oval, or tubular glands, typically lined by stratified non-mucin-containing epithelium with well-defined luminal margins. Squamous differentiation, secretory changes, oxyphilic variants, sex cord-stromal type patterns, or sertoliform endometrioid carcinomas may occur. Patients most commonly present in the sixth decade of life, either with a pelvic mass with or without pain, or without any symptoms. The tumor may be bilateral and is frequently associated with endometriosis and/or endometrial carcinoma.
*[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
|
Endometrioid carcinoma of ovary
|
c0346163
| 27,964 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=454723
| 2021-01-23T18:47:39 |
{"umls": ["C0346163"], "icd-10": ["C56"]}
|
Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency (see these terms).
## Epidemiology
The prevalence at birth is estimated at around 1/100,000.
## Clinical description
GSD due to liver PhK deficiency is the most common sub-type and presents in early childhood with hepatomegaly, growth retardation, and mild delay in motor development. During adulthood, symptoms usually disappear. Patients with GSD due to liver and muscle PhK deficiency may have marked hepatomegaly and mild muscular hypotonia in childhood. GSD due to muscle PhK deficiency presents in adolescence or adulthood with exercise intolerance, myalgia, and sometimes myoglobinuria but symptoms are generally mild.
## Etiology
Phosphorylase kinase (PhK) is an enzyme which plays a key role in the regulation of glycogenolysis as it is required for glycogen phosphorylase activation. It consists of four copies of each four subunits (alpha, beta, gamma and calmoduline) encoded by different genes on different chromosomes and differentially expressed in various tissues. GSD due to liver PhK deficiency is due to mutations in the PHKA2 or PHKG2 genes encoding the liver isoforms of the alpha and gamma subunits of PhK. Transmission is X-linked and autosomal recessive, respectively. GSD due to liver and muscle PhK deficiency is transmitted in an autosomal recessive manner and is due to mutations in the PHKB gene which encodes the beta subunit of PhK. The muscle-specific isoforms of the alpha and gamma subunits of PhK are encoded by the PHKA1 and PHKG1 genes respectively, but until now mutations have only been found in the PHKA1 gene in patients with GSD due to muscle PhK deficiency. Transmission is X-linked.
*[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 phosphorylase kinase deficiency
|
c0268147
| 27,965 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=370
| 2021-01-23T18:31:29 |
{"mesh": ["C580130"], "umls": ["C0268147"], "icd-10": ["E74.0"], "synonyms": ["GSD due to phosphorylase kinase deficiency", "GSD type 9", "GSD type IX", "Glycogen storage disease due to PhK deficiency", "Glycogen storage disease type 9", "Glycogen storage disease type IX", "Glycogenosis due to phosphorylase kinase deficiency", "Glycogenosis type 9", "Glycogenosis type IX", "Gycogenosis due to PhK deficiency"]}
|
Oligodactyly
Oligodactyly as a result of ectrodactyly on the feet of a one-year-old child
SpecialtyMedical genetics
Oligodactyly (from the Ancient Greek oligos meaning "few" and δάκτυλος daktylos meaning "finger") is the presence of fewer than five fingers or toes on a hand or foot.[1][2]
It is quite often incorrectly called hypodactyly, but the Greek prefixes hypo- and hyper- are used for continuous scales (e.g. in hypoglycaemia and hyperthermia). This as opposed to discrete or countable scales, where oligo- and poly- should be used (e.g. in oligarchy and polygamy). Oligodactyly is therefore the opposite of polydactyly.[2][3] Very rare, this medical condition usually has a genetic or familial cause.[3][4]
Oligodactyly is sometimes a sign or symptom of several syndromes including Poland syndrome and Weyer Ulnar Ray Syndrome.[5] It is a type of dysmelia.
Ectrodactyly is an extreme instance of oligodactyly, involving the absence of one or more central digits of the hand or foot and is also known as split hand/split foot malformation (SHFM).[6] The hands and feet of people with ectrodactyly are often described as "claw-like" and may include only the thumb and one finger (usually either the little finger, ring finger, or a syndactyly of the two) with similar abnormalities of the feet.[7]
People with oligodactyly often have full use of the remaining digits and adapt well to their condition. They are not greatly hindered in their daily activities, if at all.[4][8] Even those with the most extreme forms are known to engage in tasks that require fine control, such as writing[4] and bootmaking[8] as well as working as a cab driver.[8]
The Northern People of Zimbabwe have a high frequency of oligodactyly.[9][10]
## References[edit]
1. ^ NIH website, citing Merriam-Webster's Medical Dictionary. Accessed February 16, 2010.
2. ^ a b Medical terms Dictionary. Accessed February 16, 2010
3. ^ a b [1]. Accessed February 16, 2010.
4. ^ a b c Meredith Vaughn Jones (Nov 1957). "Oligodactyly". Journal of Bone and Joint Surgery. B (39): 752–754. doi:10.1302/0301-620X.39B4.752.
5. ^ P D Turnpenny, J C Dean, P Duffty, J A Reid, and P Carter, "Weyers' ulnar ray/oligodactyly syndrome and the association of midline malformations with ulnar ray defects." J Med Genet. 1992 September; 29(9): 659–662. Found at NIH website. Accessed last on February 17, 2010.
6. ^ Moerman, P.; Fryns, J.P. (1998). "Ectodermal dysplasia, Rapp-Hodgkin type in a mother and severe ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) in her child". American Journal of Medical Genetics Part A. 63 (3): 479–81. doi:10.1002/(SICI)1096-8628(19960614)63:3<479::AID-AJMG12>3.0.CO;2-J. PMID 8737656.
7. ^ Peterson-Falzone, Sally J.; Hardin-Jones, Mary A.; Karnell, Michael P.; McWilliams, Betty Jane (2001). Cleft Palate Speech. Mosby. ISBN 978-0-8151-3153-3.
8. ^ a b c Lewis, Thomas (1908). "The Inheritance of Deformities". British Medical Journal. 2 (2481): 166–173. doi:10.1136/bmj.2.2481.166.
9. ^ Farrell HB (1984). "The two-toed Wadoma--familial ectrodactyly in Zimbabwe". S. Afr. Med. J. 65 (13): 531–3. PMID 6710256.
10. ^ Ripley's believe it or not (with photo).
## External links[edit]
* NIH website page on Oligodactyly
Classification
D
* DiseasesDB: 30700
* v
* t
* e
Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality
Appendicular
limb / dysmelia
Arms
clavicle / shoulder
* Cleidocranial dysostosis
* Sprengel's deformity
* Wallis–Zieff–Goldblatt syndrome
hand deformity
* Madelung's deformity
* Clinodactyly
* Oligodactyly
* Polydactyly
Leg
hip
* Hip dislocation / Hip dysplasia
* Upington disease
* Coxa valga
* Coxa vara
knee
* Genu valgum
* Genu varum
* Genu recurvatum
* Discoid meniscus
* Congenital patellar dislocation
* Congenital knee dislocation
foot deformity
* varus
* Club foot
* Pigeon toe
* valgus
* Flat feet
* Pes cavus
* Rocker bottom foot
* Hammer toe
Either / both
fingers and toes
* Polydactyly / Syndactyly
* Webbed toes
* Arachnodactyly
* Cenani–Lenz syndactylism
* Ectrodactyly
* Brachydactyly
* Stub thumb
reduction deficits / limb
* Acheiropodia
* Ectromelia
* Phocomelia
* Amelia
* Hemimelia
multiple joints
* Arthrogryposis
* Larsen syndrome
* RAPADILINO syndrome
Axial
Skull and face
Craniosynostosis
* Scaphocephaly
* Oxycephaly
* Trigonocephaly
Craniofacial dysostosis
* Crouzon syndrome
* Hypertelorism
* Hallermann–Streiff syndrome
* Treacher Collins syndrome
other
* Macrocephaly
* Platybasia
* Craniodiaphyseal dysplasia
* Dolichocephaly
* Greig cephalopolysyndactyly syndrome
* Plagiocephaly
* Saddle nose
Vertebral column
* Spinal curvature
* Scoliosis
* Klippel–Feil syndrome
* Spondylolisthesis
* Spina bifida occulta
* Sacralization
Thoracic skeleton
ribs:
* Cervical
* Bifid
sternum:
* Pectus excavatum
* Pectus carinatum
*[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
|
Oligodactyly
|
c0728895
| 27,966 |
wikipedia
|
https://en.wikipedia.org/wiki/Oligodactyly
| 2021-01-18T18:43:52 |
{"umls": ["C0728895", "C3887496"], "wikidata": ["Q975088"]}
|
Freiberg disease
Other namesFreiberg infraction
Freiberg disease as seen on plain film
SpecialtyOrthopedics
Freiberg disease, also known as a Freiberg infraction, is a form of avascular necrosis in the metatarsal bone of the foot. It generally develops in the second metatarsal, but can occur in any metatarsal. Physical stress causes multiple tiny fractures where the middle of the metatarsal meets the growth plate. These fractures impair blood flow to the end of the metatarsal resulting in the death of bone cells (osteonecrosis). It is an uncommon condition, occurring most often in young women, athletes, and those with abnormally long metatarsals. Approximately 80% of those diagnosed are women. [1]
Initial treatment is generally 4–6 weeks of limited activity, often with crutches or orthotics. In rare cases, surgery is necessary to reduce the bone mass of the metatarsal.
The condition was first described by Dr. Alfred H. Freiberg in 1914. He initially thought the condition was caused by acute physical trauma, which is why it was initially called an infraction.[1][2][3][4]
## References[edit]
1. ^ a b Fehr SC, Walter KD. "Freiberg Disease". Medscape. WebMD LLC. Retrieved 1 March 2014.
2. ^ "Freiberg Infraction". Ann & Robert H. Lurie Children's Hospital of Chicago. Retrieved 1 March 2014.
3. ^ Clifford R. Wheeless, III, MD. "Freiberg's Disease". Wheeless' Textbook of Orthopaedics. Duke Orthopaedics.CS1 maint: multiple names: authors list (link)
4. ^ Smith T, Vito GR. "Freiberg's Infraction, Compression Fractures and Osteochondritis" (PDF). The Podiatry Institute. Retrieved 1 March 2014.
## External links[edit]
Classification
D
* ICD-10: M92.7
* MeSH: C535636
This article about a disease of musculoskeletal and connective tissue 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
|
Freiberg disease
|
c0264099
| 27,967 |
wikipedia
|
https://en.wikipedia.org/wiki/Freiberg_disease
| 2021-01-18T18:45:10 |
{"gard": ["2380"], "mesh": ["C535636"], "umls": ["C0264099"], "icd-9": ["732.5"], "icd-10": ["M92.7"], "wikidata": ["Q1688105"]}
|
Congenital trigeminal anesthesia is a rare neuro-ophtalmological disorder characterized by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anesthesia, it usually presents with recurrent, painless eye infections, painless corneal opacities and/or poorly healing, ulcerated wounds on the facial skin and mucosa (typically the buccal mucosa and/or nasal septum).
*[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 trigeminal anesthesia
|
c1852541
| 27,968 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=231013
| 2021-01-23T16:59:40 |
{"gard": ["10034"], "mesh": ["C536440"], "omim": ["122450"], "icd-10": ["G50.8"]}
|
A number sign (#) is used with this entry because MACS syndrome (macrocephaly, alopecia, cutis laxa, and scoliosis) is caused by homozygous mutation in the RIN2 gene (610222) on chromosome 20p11.
Clinical Features
Basel-Vanagaite et al. (2009) described 3 patients, members of 2 related consanguineous Israeli-Arab families, with macrocephaly, downward-slanting palpebral fissures, puffy eyelids, mild ichthyosis, sagging cheeks, everted lower lip, retrognathia, gingival hyperplasia, abnormal position of the teeth, severe hyperlaxity, flat feet, coarse and swollen facial appearance affecting the eyelids, lips, and cheeks, sparse scalp hair, and moderate to severe scoliosis with short stature. One of the patients also had mild dilatation of the aorta and another one had generalized osteoporosis, more severe in the spine. The cutaneous features were more apparent in the 2 older patients, suggesting that the disorder is progressive. No visceral involvement was noted. The abnormal appearance of the elastic tissue was restricted to the papillary dermis.
Syx et al. (2010) noted similarities between the patients reported by Basel-Vanagaite et al. (2009) and 3 Algerian sibs with an autosomal recessive genodermatosis previously reported by Verloes et al. (2005). The sibs, born to consanguineous parents, had progressive facial coarsening, gingival hypertrophy, severe scoliosis, sparse hair, and skin and joint laxity. Syx et al. (2010) suggested that the MACS acronym may not be the most appropriate to summarize the phenotypic spectrum of the disorder. True macrocephaly (OFC +3 SD) was initially observed in 2 of 5 patients (data not available in 1 patient reported by Basel-Vanagaite et al., 2009) and subsequently regressed to normal in 1 of them, meaning that final OFC was normal in 4 of 5 patients. The 3 patients described by Syx et al. (2010) had sparse hair, not alopecia, and they did not have cutis laxa. Syx et al. (2010) suggested that progressive scoliosis and buccofacial dysmorphism are the most consistent features of the syndrome, but sparse hair as well as joint and skin hyperextensibility also appear to be common to all 6 reported patients.
Albrecht et al. (2010) reported an 18-year-old Lebanese male, born to consanguineous parents, with MACS syndrome. He had mental retardation (IQ 62), short stature (156 cm), macrocephaly (OFC +3.5 SD), bitemporal narrowing, sagging chins, prominent lips, facial coarsening, cutis laxa of the hand, ankles, wrist and neck, gingival overgrowth, irregular teeth, sparse hair, thorax deformity without scoliosis, and brachydactyly of the first, second, and fourth digits of the hands and feet. He did not show signs of easy bruising, vascular abnormalities, hernias, or systemic involvement. Ultrastructural studies of the skin showed characteristic findings of cutis laxa with abnormal elastic fiber number and structure; in deeper layers, there were mild changes in the collagen fibril morphology. Patient fibroblasts showed abnormal morphology of the Golgi apparatus with swollen cisternae and vacuole accumulation.
Aslanger et al. (2014) described 2 sibs of Turkish descent, born to nonconsanguineous parents who came from the same village, with coarse facies and other dysmorphic features consistent with MACS syndrome. Soft, sagging skin, hyperextensibility, and bronchiectases were also present. The sister presented with hypergonadotropic hypogonadism. She had increased OFC (+2.7 SD) and her brother was normocephalic. Both sibs had progressive scoliosis, osteoporosis, and sparse scalp hair. Both had normal intelligence.
Inheritance
MACS syndrome is an autosomal recessive disorder based on the finding of causative homozygous mutations in the RIN2 gene (Basel-Vanagaite et al., 2009).
Mapping
Using Affymetrix Human Mapping NspI 250K arrays to genotype affected family members with MACS syndrome, Basel-Vanagaite et al. (2009) identified a shared continuous segment of homozygosity between markers rs6034837 and rs2092468 on chromosome 20p11.23-p11.21.
By homozygosity mapping in an Algerian family segregating an autosomal recessive genodermatosis with phenotypic similarities to MACS syndrome, Syx et al. (2010) identified a region on chromosome 20 delineated by SNPs rs6118558 and rs804605 that was homozygous among all affected patients, but not among the unaffected individuals. The RIN2 gene, which had been found to be mutated in the MACS syndrome by Basel-Vanagaite et al. (2009), was located within the candidate region.
Molecular Genetics
In 3 related patients with MACS syndrome, Basel-Vanagaite et al. (2009) identified homozygosity for a 1-bp deletion in the RIN2 gene (c.1878delC; 610222.0001). The mutation was not found in 182 ethnically matched control individuals. RIN2 protein was absent from fibroblasts from the patients, indicating a loss-of-function effect.
In 3 Algerian sibs from a consanguineous family with an autosomal recessive genodermatosis, previously described by Verloes et al. (2005), Syx et al. (2010) identified a homozygous 2-bp deletion in exon 8 of the RIN2 gene (c.2061_2062delGC; 610222.0002). The variant was not found in 94 control individuals. Ultrastructural studies of the skin revealed important abnormalities in the collagen fibril morphology, and fibroblasts exhibited a dilated endoplasmic reticulum and an abnormal Golgi apparatus with rarefied and dilated cisternae.
In a Lebanese man from a consanguineous family with MACS syndrome, Albrecht et al. (2010) identified homozygosity for the c.1878delC mutation in the RIN2 gene, previously identified by Basel-Vanagaite et al. (2009).
In 2 Turkish sibs with MACS syndrome, Aslanger et al. (2014) identified a homozygous insertion in exon 8 of the RIN2 gene (c.1878_1879insC; 610222.0003).
INHERITANCE \- Autosomal recessive GROWTH Height \- Small stature Weight \- Low weight HEAD & NECK Face \- Coarse face Eyes \- Downslanting palpebral fissure \- Puffy eyelids \- Infraorbital folds \- Droopy eyelids \- Sparse eyebrows Mouth \- Full lips \- Everted lips \- Gum hypertrophy \- High-arched palate (rare) Teeth \- Irregular dentition CARDIOVASCULAR Heart \- Mild aortic dilatation (rare) RESPIRATORY Airways \- Bronchiectasis (rare) CHEST Ribs Sternum Clavicles & Scapulae \- Pectus deformity ABDOMEN Gastrointestinal \- Umbilical hernia (rare) GENITOURINARY Internal Genitalia (Male) \- Undescended testis (rare) Ureters \- Urethral stenosis (rare) SKELETAL \- Osteoporosis Spine \- Scoliosis Limbs \- Joint hypermobility \- Fractures (rare) Hands \- Brachydactyly (uncommon) \- Single transverse palmar crease (rare) Feet \- Pes planus SKIN, NAILS, & HAIR Skin \- Soft, redundant skin (especially facial) \- Ichthyosis (rare) \- Hyperextensible skin \- Multiple pigmented moles \- Easy bruising Hair \- Receding anterior hairline \- Sparse hair \- Sparse androgenic hair MUSCLE, SOFT TISSUES \- Muscle hypotonia NEUROLOGIC Central Nervous System \- Normal to mildly delayed development VOICE \- High-pitched voice ENDOCRINE FEATURES \- Hypergonadotropic hypogonadism (rare) HEMATOLOGY \- Prolonged bleeding time MOLECULAR BASIS \- Caused by mutation in the RAS and RAB interactor 2 gene (RIN2, 610222.0001 ) ▲ Close
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
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*[E2]: estradiol
*[CEEs]: conjugated estrogens
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*[7d avg]: Average of the last 7 days
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*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
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*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
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*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
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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
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*[ADHD]: Attention-deficit hyperactivity disorder
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*[m.]: married
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*[%DV]: Percentage of Daily Value
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*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
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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
|
MACS SYNDROME
|
c2751321
| 27,969 |
omim
|
https://www.omim.org/entry/613075
| 2019-09-22T15:59:48 |
{"mesh": ["C567770"], "omim": ["613075"], "orphanet": ["217335"], "synonyms": ["Alternative titles", "MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS", "TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS"]}
|
## Summary
### Clinical characteristics.
The phenotypes of dihydrolipoamide dehydrogenase (DLD) deficiency are an overlapping continuum that ranges from early-onset neurologic manifestations to adult-onset liver involvement and, rarely, a myopathic presentation. Early-onset DLD deficiency typically manifests in infancy as hypotonia with lactic acidosis. Affected infants frequently do not survive their initial metabolic decompensation, or die within the first few years of life during a recurrent metabolic decompensation. Children who live beyond the first two to three years frequently exhibit growth deficiencies and residual neurologic deficits (intellectual disability, spasticity, ataxia, and seizures). In contrast, isolated liver involvement can present as early as the neonatal period and as late as the third decade. Evidence of liver injury/failure is preceded by nausea and emesis and frequently associated with encephalopathy and/or coagulopathy. Acute metabolic episodes are frequently associated with lactate elevations, hyperammonemia, and hepatomegaly. With resolution of the acute episodes affected individuals frequently return to baseline with no residual neurologic deficit or intellectual disability. Liver failure can result in death, even in those with late-onset disease. Individuals with the myopathic presentation may experience muscle cramps, weakness, and an elevated creatine kinase.
### Diagnosis/testing.
The diagnosis of dihydrolipoamide dehydrogenase deficiency (DLD) is established in a proband with suggestive clinical and supportive laboratory findings and/or by identification of biallelic pathogenic variants in DLD.
### Management.
Treatment of manifestations:
* Routine daily treatment for those with the early-onset neurologic presentation: branched-chain amino acid (BCAA)-free powder formula with 2-3 g/kg/day natural protein; ketogenic/high-fat diet; dichloroacetate (DCA) supplementation (50-75 mg/kg/day); feeding therapy and consideration of gastrostomy tube for persistent feeding issues; standard treatment for developmental delay / intellectual disability, cardiac dysfunction, and vision impairment / optic atrophy.
* Acute inpatient treatment for those with early-onset neurologic presentation: address any precipitating factors (infection, fasting, medications); D10 (half or full-normal saline) with age-appropriate electrolytes; consideration of bicarbonate therapy for those with severe metabolic acidosis; withholding of protein for a maximum of 24 hours; consideration of renal replacement therapyies; total protein intake 2-3.5 g/kg/day as BCAA-free amino acids; isoleucine and valine supplements; maintain serum osmolality within the normal reference range; levocarnitine (IV or PO) 50-100 mg/kg/day divided three times per day; continuation of DCA; standard therapy for seizures.
* For hepatic presentation: removal or treatment of precipitating factors; dextrose-containing IV fluids (6-8 mg/kg/min) with age-appropriate electrolytes and/or frequent feedings; consider correction of metabolic acidosis using sodium bicarbonate; consideration of DCA and/or dialysis; consideration of fresh frozen plasma for coagulopathy.
* For the myopathic presentation: At least one affected individual with severe exercise intolerance responded well to riboflavin supplementation (220 mg/day).
Prevention of primary manifestations: No compelling evidence exists for the prevention of acute episodes, despite multiple attempted dietary strategies and medications. Provide protein intake at or around recommended dietary allowance and titrate based on growth and plasma amino acid values; supplementation with levocarnitine, if deficient.
Prevention of secondary complications: DCA has been associated with the development of peripheral neuropathy; thus, individuals receiving this medication require close monitoring.
Surveillance: Measurement of growth parameters and evaluation of nutritional status and safety of oral intake at each visit; full amino acid profile (from plasma or filter paper) weekly or twice weekly in rapidly growing infants and routinely in older individuals; at least monthly visit with a metabolic specialist in infancy; assessment of developmental milestones at each visit or as needed; physical examination and/or ultrasound to assess liver size, measurement of liver transaminases and liver synthetic function, and assessment for peripheral neuropathy at each visit; echocardiogram at least annually or based on clinical status; ophthalmologic evaluation as clinically indicated.
Agents/circumstances to avoid: Fasting, catabolic stressors, and extremes of dietary intake until dietary tolerance/stressors are identified; liver-toxic medications.
Evaluation of relatives at risk: Testing of all at-risk sibs of any age is warranted to allow for early diagnosis and treatment of DLD deficiency and to avoid risk factors that may precipitate an acute event. For at-risk newborn sibs when molecular genetic prenatal testing was not performed: in parallel with NBS either test for the familial DLD pathogenic variants or measure plasma lactate, plasma amino acids, and urine organic acids.
### Genetic counseling.
DLD deficiency is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk are possible if the DLD pathogenic variants in the family are known.
## Diagnosis
Dihydrolipoamide dehydrogenase (DLD) functions as the E3 subunit of three mitochondrial enzyme complexes: branched-chain alpha-ketoacid dehydrogenase (BCKDH) complex, α-ketoglutarate dehydrogenase (αKGDH) complex, and pyruvate dehydrogenase (PDH) complex [Chuang et al 2013]. The E3 subunit is responsible for the reoxidation of the reduced lipoyl moiety of the E2 subunit. Although DLD also functions as the L protein of the glycine cleavage system, pathogenic variants in DLD do not appear to impair the function of this system in vivo.
The phenotypic spectrum of DLD deficiency includes an early-onset neurologic presentation, a primarily hepatic presentation, and a primarily myopathic presentation.
No formal clinical diagnostic criteria have been established for dihydrolipoamide dehydrogenase (DLD) deficiency.
### Suggestive Findings
The diagnosis of dihydrolipoamide dehydrogenase (DLD) deficiency should be suspected in individuals with the following clinical and supportive laboratory findings.
Clinical findings
* Neurologic. Early-onset hypotonia, lethargy, and emesis
* In untreated infants, manifestations progress to deepening encephalopathy (lethargy, tone abnormalities, feeding difficulties, decreased level of alertness, and occasionally seizures) and eventual death.
* Neurologic impairment presents in those who survive the first year of life.
* Hepatic. Recurrent liver injury/failure frequently preceded by nausea and emesis
* Age of onset ranges from the neonatal period to the third decade.
* Individuals with the hepatic form typically have normal intellect with no residual neurologic deficit between acute metabolic episodes unless neurologic damage has occurred.
* Myopathic. Muscle cramps, weakness, and an elevated creatine kinase
While muscle involvement is the main feature in previously reported individuals, additional findings include intermittent acidosis and hepatic involvement [Quintana et al 2010, Carrozzo et al 2014].
Supportive laboratory findings
* Newborn screening (NBS). Citrulline is elevated on NBS dried blood spot [Haviv et al 2014, Quinonez et al 2014].
Note: (1) Newborn screening has failed to identify asymptomatic individuals with DLD deficiency when either dried blood spot citrulline or leucine is used as a primary screening analyte; (2) Individuals with an early-onset or hepatic presentation only occasionally have biochemical evidence of dysfunctional branched chain amino acid (BCAA) metabolism (i.e., elevations of allo-isoleucine and branched chain ketoacids; see Table 1), making leucine an unreliable marker for screening; (3) DLD deficiency is not listed as a condition on the differential diagnosis for an increased citrulline on the ACMG ACT Sheet and is not currently reported on most NBS panels.
* Abnormal laboratory findings typically associated with the neurologic presentation:
* Metabolic acidosis. Arterial pH <7.35 or venous pH <7.32 and serum bicarbonate <22 mmol/L in children and adults or <17 mmol/L in neonates
* Hypoglycemia. <40 mg/dL (<2.2 mmol/L)
* Other metabolic abnormalities listed in Table 1
* Laboratory findings typically associated with the hepatic presentation:
* Elevated lactate level (>2.2 µmol/L)
* Isolated elevated transaminases to fulminant hepatic failure
* Absence of other metabolic abnormalities (See Table 1.)
* Laboratory findings typically associated with the myopathic presentation:
* Normal-to-elevated serum creatinine kinase (CK) level, up to 20 times the normal range during acute episodes (<192 U/L) [Carrozzo et al 2014]
* Occasionally elevated transaminases, lactate, and other metabolic abnormalities (See Table 1.)
### Table 1.
Metabolic Abnormalities in DLD Deficiency by Presentation
View in own window
MetabolitePresentationNormal
NeurologicHepaticMyopathic
Plasma lactate↑↑Normal to ↑<2.2 µmol/L
Urine α-ketoglutarateNormal to ↑Typically normalNormal to ↑
* Neonates: 4-524 mmol/mol creatinine
* Children: 36-117 mmol/mol creatinine
* Adults: 4-74 mmol/mol creatinine
Urine branched-chain ketoacidsAbsent to ↑Typically absentAbsent to ↑
* Neonates: <7 mmol/mol creatinine
* All other ages: not detectable
Plasma leucineNormal to ↑Typically normalNormal to ↑
* Infants: 46-147 µmol/L
* Children: 30-246 µmol/L
* Adolescents-adults: 86-206 µmol/L
Plasma isoleucineNormal to ↑Typically normalNormal to ↑
* Infants: 12-77 µmol/L
* Children: 6-122 µmol/L
* Adolescents-adults: 34-106 µmol/L
Plasma valineNormal to ↑Typically normalNormal to ↑
* Infants: 79-217 µmol/L
* Children: 132-480 µmol/L
* Adolescents-adults: 155-343 µmol/L
Plasma allo-isoleucineNormal to ↑Typically normalNormal to ↑<5 µmol/L
### Establishing the Diagnosis
The diagnosis of dihydrolipoamide dehydrogenase deficiency (DLD) is established in a proband with suggestive clinical and supportive laboratory findings (see Table 1) AND/OR by identification of biallelic pathogenic variants in DLD (see Table 2).
Note: The presence of decreased DLD enzymatic activity in fibroblasts, lymphocytes, or liver tissue can also be used to establish the diagnosis but is not recommended as a first-line test, given the general availability of molecular genetic testing.
When laboratory findings suggest the diagnosis of DLD, molecular genetic testing approaches can include single-gene testing or use of a multigene panel.
Single-gene testing. Sequence analysis of DLD is performed first to detect small intragenic deletions/insertions and missense, nonsense, and splice site variants.
* Targeted analysis for the c.685G>T (p.Gly229Cys) pathogenic variant may be considered first in individuals of Ashkenazi Jewish ancestry.
* Depending on the sequencing method used, single-exon, multiexon, or whole-gene deletions/duplications may not be detected.
* If only one or no variant is detected by the sequencing method used, the gene-targeted deletion/duplication analysis to detect exon and whole-gene deletions or duplications may be considered.
A multigene panel that includes DLD and other genes of interest (see Differential Diagnosis) 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. 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. (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 2.
Molecular Genetic Testing Used in Dihydrolipoamide Dehydrogenase Deficiency
View in own window
Gene 1MethodProportion of Pathogenic Variants 2 Detectable by Method
DLDSequence analysis 342/43 (98%) 4
Gene-targeted deletion/duplication analysis 5Unknown 6
Targeted analysis for pathogenic variants 7See footnote 8.
1\.
See Table A. Genes and Databases for chromosome locus and protein.
2\.
See Molecular Genetics for information on allelic variants.
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\.
Quintana et al [2010], Brassier et al [2013], Quinonez et al [2013], Carrozzo et al [2014], Haviv et al [2014], Bravo-Alonso et al [2019]
5\.
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.
6\.
No deletions or duplications involving DLD have been reported to cause dihydrolipoamide dehydrogenase deficiency.
7\.
Variant panels may differ by laboratory.
8\.
The c.685G>T (p.Gly229Cys) pathogenic variant is common in Ashkenazi Jews (see Prevalence).
## Clinical Characteristics
### Clinical Description
Persons with dihydrolipoamide dehydrogenase (DLD) deficiency exhibit variable phenotypic and biochemical consequences based on the three affected enzyme complexes. While the spectrum of disease ranges from early-onset neurologic manifestations to isolated adult-onset liver involvement, it represents a continuum and differentiation between discretely defined presentations can occasionally be difficult.
#### Early-Onset Neurologic Presentation
The most frequent clinical finding in early-onset DLD deficiency is that of a hypotonic infant with lactic acidosis (Table 3). Affected infants frequently do not survive their initial metabolic decompensation or die within the first one to two years of life during a recurrent metabolic decompensation.
Children who live beyond the first two to three years frequently exhibit growth deficiencies and residual neurologic deficits including intellectual disability, spasticity (hypertonia and/or hyperreflexia), ataxia, and seizures. Typically, seizures are generalized tonic-clonic and occur during episodes of metabolic decompensation and not during periods when affected individuals are metabolically stable [Quinonez et al 2013]. Medication-refractory epilepsy has been seen in one affected individual with neurologic impairment secondary to metabolic decompensation [Author, personal observation]. Of note, normal intellectual functioning has been reported in individuals with certain genotypes (see Genotype-Phenotype Correlations).
### Table 3.
Features of the Early-Onset Neurologic Phenotype
View in own window
Disease FeaturesFrequency 1%
Clinical presentation 2Hypotonia16/2564
Developmental delay12/2548
Emesis12/2548
Hepatomegaly10/2540
Lethargy8/2532
Seizures7/2528
Spasticity (hypertonia &/or hyperreflexia)7/2528
Leigh syndrome phenotype6/2524
Failure to thrive6/2524
Microcephaly5/2520
Vision impairment4/2516
Ataxia3/2512
Cardiac involvement3/2512
Laboratory abnormalitiesMetabolic acidosis 322/2588
↑ plasma lactate 418/2572
↑ urine α-ketoglutarate 413/2552
Hypoglycemia 512/2548
↑ plasma BCAA 410/2540
↑ transaminases11/2544
↑ urine branched-chain ketoacids 47/2528
Hepatic failure5/2520
↑ plasma allo-isoleucine 44/2516
Low free plasma carnitine 63/2512
Hyperammonemia 74/2516
Includes only individuals biochemically confirmed to have DLD deficiency
BCAA = branched-chain amino acids
1\.
Quinonez et al [2013], Bravo-Alonso et al [2019]
2\.
Later physical examination and neurologic findings are likely underrepresented, as children with an early-onset presentation frequently die in the first year(s) of life.
3\.
Arterial pH <7.35 or venous pH <7.32; serum bicarbonate <22 mmol/L in infants, children, and adults; or <17 mmol/L in neonates
4\.
See Table 1.
5\.
Glucose <40 mg/dL
6\.
Carnitine (free) <38±22
7\.
Ammonia >100 µmol/L in neonates or >60 µmol/L in infants, children, and adults
Metabolic phenotype. DLD deficiency is associated with recurrent episodes of metabolic decompensation typically triggered by illness/fever, surgery, fasting, or diet (high in fats and/or protein).
* Some affected individuals have experienced worsening of clinical status with high-fat diets [Brassier et al 2013], while others have achieved metabolic control with ketogenic diets (see Management).
* Some individuals with DLD deficiency have features of Leigh syndrome [Quinonez et al 2013]. Leigh syndrome consists of characteristic clinical findings and brain pathology.
The diagnostic criteria for Leigh syndrome include: (1) progressive neurologic disease with motor and intellectual developmental delay; (2) signs and features of brain stem or basal ganglia disease; (3) elevated lactate levels in the blood or cerebrospinal fluid; and (4) one or more of three features:
* Characteristic features of Leigh syndrome on neuroradioimaging (symmetric hypodensities in the basal ganglia on computed tomography, or hyperintense lesions on T2-weighted MRI)
* Typical neuropathologic changes at postmortem examination
* Typical neuropathology in a similarly affected sib
Liver abnormalities. Hepatomegaly and liver dysfunction/failure (elevated transaminases, synthetic failure) can occur during acute episodes and occasionally are the cause of death.
* Between acute episodes both liver size and transaminase levels can return to normal.
* Liver biopsies have shown increased glycogen content and mild fibrosis or fatty, acute necrosis with a Reye syndrome-like appearance.
Cardiac dysfunction. Hypertrophic cardiomyopathy was reported in two affected individuals and "myocardial dysfunction" in one.
Hyperammonemia (≤250 µmol/L) is sometimes observed at the time of initial presentation, although this is typically associated with various degrees of hepatic injury/failure [Quinonez et al 2013, Bravo-Alonso et al 2019].
Vision impairment/optic atrophy can occur, with progression to full blindness reported.
#### Hepatic Presentation
Affected individuals with a primarily hepatic presentation can develop signs and symptoms as early as the neonatal period and as late as the third decade of life [Brassier et al 2013]. Evidence of liver injury/failure (Table 4) is preceded by nausea and emesis and frequently associated with encephalopathy and/or coagulopathy. Liver failure as a cause of death has been reported in multiple affected individuals, including those who presented later in life. The hepatic manifestations of these individuals are typically only present during acute episodes, while other findings (muscle cramps, behavioral disturbances, and vision loss) have been reported when affected individuals are clinically well.
### Table 4.
Features of the Hepatic Phenotype
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Disease FeaturesFrequency 1%
Clinical presentationNausea/emesis13/13100
Hepatomegaly9/1369
Hepatic encephalopathy7/1354
Muscle cramps3/1323
Behavioral disturbances1/138
Optic atrophy1/138
Laboratory abnormalities↑ transaminases13/13100
Coagulopathy11/1385
↑ lactate 210/1377
Hyperammonemia 38/1362
Hypoglycemia 45/1338
↑ urine α-ketoglutarate 22/1315
Low carnitine 51/138
↑ plasma BCAA 21/138
Includes only individuals biochemically confirmed to have DLD deficiency
BCAA = branched-chain amino acids
1\.
Brassier et al [2013]
2\.
See Table 1.
3\.
Ammonia >100 µmol/L in neonates or >60 µmol/L in infants, children, and adults
4\.
Glucose <40 mg/dL
5\.
Carnitine (free) <38±22
Acute metabolic episodes are frequently associated with lactate elevations, hyperammonemia, and hepatomegaly. With resolution of the acute episodes (see Management) affected individuals may return to baseline with normal transaminases, coagulation parameters, mental status, and no residual neurologic deficit or intellectual disability.
Affected individuals frequently experience lifelong recurrent attacks of hepatopathy that decrease with age. Attacks are often precipitated by catabolism, intercurrent illness/fever, and dietary extremes. These individuals additionally are more susceptible to hepatotropic viruses (e.g., Epstein-Barr virus) and medications (e.g., acetaminophen) [Brassier et al 2013, Quinonez et al 2013].
Liver biopsy electron microscopy has shown the presence of lipid droplets [Brassier et al 2013].
Table 3 and Table 4 reveal features common to both the early-onset neurologic presentation and the hepatic presentation (i.e., elevated transaminases, hepatomegaly, and lactate elevations), and differentiation of the two types can be difficult, especially in neonates. To date, the only affected individual with a hepatic phenotype who displayed hypotonia or residual neurologic deficiencies had experienced a severe episode associated with deep coma and residual vision loss and behavioral disturbances. Therefore, the absence of hypotonia and neurologic deficit and the presence of hepatic signs are useful discriminating features.
#### Myopathic Presentation
Two individuals have been described with a phenotype consisting of primarily myopathic symptoms [Quintana et al 2010, Carrozzo et al 2014]. One of these people additionally exhibited ptosis, weakness, and elevated creatine kinase and lactate [Quintana et al 2010]. The other also experienced early episodes of hypotonia, lethargy, acidosis, and lactic acid elevations without CK elevations. In adolescence this individual developed myalgias, weakness, fatigue, significant hyperCKemia and transaminitis with significant improvement of all signs and symptoms with riboflavin supplementation [Carrozzo et al 2014].
### Genotype-Phenotype Correlations
Phenotypic severity is difficult to predict based on genotype and residual enzyme function [Quinonez et al 2013]. However, some correlations have been reported for individuals who have at least one c.685G>T (p.Gly229Cys) pathogenic variant:
* Normal intellectual functioning has been reported in individuals with early-onset disease with compound heterozygosity for the c.685G>T (p.Gly229Cys) pathogenic variant and an additional pathogenic allele.
* All individuals with an exclusively hepatic presentation have been homozygous for the c.685G>T (p.Gly229Cys) pathogenic variant [Brassier et al 2013].
Note: Individuals homozygous for the c.685G>T (p.Gly229Cys) pathogenic variant were initially thought to have a primarily hepatic presentation. Subsequently, individuals homozygous for c.685G>T (p.Gly229Cys) were found to have the early-onset neonatal neurologic presentation as well.
### Nomenclature
DLD deficiency is occasionally referred to as maple syrup urine disease (MSUD) type 3 as it functions as the E3 subunit of BCKDH. Note that MSUD type 1 is caused by biallelic pathogenic variants in BCKDHA (E1α) or BCKDHB (E1β) and MSUD type 2 is caused by biallelic pathogenic variants in DBT (E2). See Maple Syrup Urine Disease.
DLD deficiency may also be referred to as lipoamide dehydrogenase deficiency.
### Prevalence
In the Ashkenazi Jewish population, the carrier frequency of the c.685G>T (p.Gly229Cys) pathogenic variant is estimated to be between 1:94 and 1:110 with an estimated disease frequency of 1:35,000 to 1:48,000 [Scott et al 2010]. This is likely an underestimate of disease, as additional pathogenic variants account for DLD deficiency in this population as well [Shaag et al 1999].
The incidence and carrier frequency in other populations are unknown; DLD deficiency is likely very rare.
## Differential Diagnosis
Early-onset neurologic presentation
### Table 5.
Genes of Interest in the Differential Diagnosis of Dihydrolipoamide Dehydrogenase Deficiency
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Gene(s)DisorderMOIFeatures of Differential Diagnosis DisorderDistinguishing Features
BCKDHA
BCKDHB
DBTMaple syrup urine disease (MSUD) types 1 & 2ARAge 12-24 hrs. Maple syrup odor in cerumen, ↑ plasma concentrations of BCAAs 2 & allo-isoleucine, & generalized disturbance of plasma amino acid concentration ratios
Age 2-3 days. Ketonuria, irritability, & poor feeding
Age 4-5 days. Deepening encephalopathy manifesting as lethargy, intermittent apnea, opisthotonus, & stereotyped movements (e.g., "fencing" & "bicycling")
Age 7-10 days. Possible coma & central respiratory failure
* DLD deficiency causes MSUD type 3 & can typically be differentiated from MSUD types 1 & 2 by the presence of severe lactic acidosis, α-ketoglutarate excretion in urine, & liver involvement in DLD deficiency
* The maple syrup odor frequently assoc w/MSUD types 1 & 2 is not typically assoc w/DLD deficiency.
BOLA3
IBA57
LIAS
LIPT1
NFU1Defects in lipoic acid metabolism (OMIM 605711, 614299, 614462, 615330, 616299)ARNeonatal lactic acidosis & a biochemical phenotype similar to DLD deficiency 3Unlike DLD deficiency, children w/defects in lipoic acid metabolism (except LIPT1 deficiency) have ↑ glycine in body fluids.
DLAT
LIAS
PDHA1
PDHB
PDHX
PDP1Pyruvate dehydrogenase complex (PDHC) deficiency (OMIM PS312170)AR
XL 4Most commonly presents w/neurologic impairment, hypotonia, structural brain abnormalities, & lactic acidosis w/a normal lactate:pyruvate ratio 1While clinical findings & preliminary lab values are similar, DLD deficiency is often also assoc w/: (a) defective αKGDH w/↑ urine α-ketoglutarate & (b) BCKDH complex dysfunction w/↑ plasma BCAAs & urine branched-chain ketoacids.
αKGDH = α-ketoglutarate dehydrogenase; AR = autosomal recessive; BCAA = branched-chain amino acid; BCKDH = branched-chain α-ketoacid dehydrogenase; DD = developmental delay; DLD = dihydrolipoamide dehydrogenase; MOI = mode of inheritance; PDH = pyruvate dehydrogenase; XL = X-linked
1\.
Patel et al [2012]
2\.
Leucine, isoleucine, and valine
3\.
Lipoic acid is the essential cofactor attached to the E2 subunits of BCKDH, αKGDH, and PDH as well as to the H protein of the glycine cleavage system (see Glycine Encephalopathy) [Cameron et al 2011, Mayr et al 2011, Navarro-Sastre et al 2011, Ajit Bolar et al 2013, Haack et al 2013, Soreze et al 2013, Tort et al 2014].
4\.
PDHC deficiency is inherited in an autosomal recessive manner with the exception of pyruvate dehydrogenase E1-alpha deficiency (caused by mutation of PDHA1). See OMIM 312170.
Isolated α-ketoglutarate dehydrogenase deficiency (OMIM 203740) has been reported in two sets of consanguineous sibs with choreoathetoid movements, hypotonia, developmental delay, and lactic acidosis. All affected individuals exhibited isolated elevations of α-ketoglutarate in the urine.
Elevated citrulline on newborn screening dried blood spot has been identified in three symptomatic individuals with DLD deficiency [Haviv et al 2014, Quinonez et al 2014]. As recommended by the American College of Medical Genetics (see ACMG ACT Sheet / ACMG Algorithm), other causes of an elevated citrulline on dried blood spot including citrullinemia type I, argininosuccinate lyase deficiency, citrullinemia type II (citrin deficiency), and pyruvate carboxylase deficiency should be investigated.
Isolated liver involvement has a broad differential and an underlying cause is not identified in up to 50% of cases. NBAS deficiency (OMIM 616483) and other inborn errors of metabolism, including fatty acid oxidation disorders (e.g., very long chain acyl-CoA dehydrogenase deficiency, medium-chain acyl-CoA dehydrogenase deficiency, and short-chain acyl-CoA dehydrogenase deficiency), mitochondrial disorders, and disorders of the carnitine cycle (e.g., systemic primary carnitine deficiency and carnitine palmitoyltransferase II deficiency) should be considered [Haack et al 2015]. A comprehensive biochemical workup followed by genetic testing if indicated will appropriately evaluate for the various genetic conditions in the differential diagnosis.
## Management
Consensus recommendations for the management of DLD deficiency do not currently exist. Theoretic difficulties exist for the management of affected individuals based on the various metabolic pathways affected by the three affected enzyme complexes. In practice, these difficulties have been experienced and make empiric treatment recommendations challenging.
When dihydrolipoamide dehydrogenase (DLD) deficiency is suspected during the diagnostic evaluation, treatment should be initiated immediately.
Development and evaluation of treatment plans, training and education of affected individuals and their families, and avoidance of side effects of dietary treatment (i.e., malnutrition, growth failure) require a multidisciplinary approach including multiple subspecialists, with oversight and expertise from a specialized metabolic center.
### Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with dihydrolipoamide dehydrogenase (DLD) deficiency, the evaluations summarized in the following tables (if not performed as part of the evaluation that led to the diagnosis) are recommended.
### Table 6.
Recommended Evaluations Following Initial Diagnosis of Dihydrolipoamide Dehydrogenase Deficiency in an Ill Neonate
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System/ConcernEvaluationComment
Metabolic
decompensationConsultation w/metabolic physician / biochemical geneticist & specialist metabolic dietitian 1Transfer to a specialist center w/experience in mgmt of inherited metabolic diseases (strongly recommended)
STAT blood gas (arterial or venous), ammonia, lactic acid, CK, & glucoseUrgent labs to be obtained if an acute metabolic crisis is suspected
Plasma free & total carnitine, plasma amino acids, & urine organic acidsTo be obtained during a period of acute metabolic decompensation, if possible
HepaticMeasure liver transaminases (AST, ALT) & assess liver synthetic function.
Assessment of liver sizeVia physical exam &/or ultrasonography
NeurologicEvaluate for seizuresConsider EEG if concerned.
CardiacEchocardiogramTo assess for cardiac dysfunction & hypertrophy
### Table 7.
Recommended Evaluations Following Initial Diagnosis of Dihydrolipoamide Dehydrogenase Deficiency in a Stabilized Neonate/Infant
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System/ConcernEvaluationComment
ConstitutionalAssessment of growth parameters
NeurologicNeurologic evalConsider:
* Head MRI to assess for brain damage;
* EEG if seizures a concern;
* Regular developmental assessments to identify impairments resulting from metabolic decompensations.
EyesOphthalmologic evalIf concerns for vision loss
Miscellaneous/
OtherConsultation w/psychologist &/or social workerTo ensure understanding of diagnosis & assessment of parental coping skills & resources
### Table 8.
Recommended Evaluations Following Initial Diagnosis of Dihydrolipoamide Dehydrogenase Deficiency in an Older Child or Adult
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System/ConcernEvaluationComment
HepaticMeasurement of liver transaminases (AST, ALT) & assessment of liver synthetic function
EyesOphthalmologic evalIf concerns for vision loss or ptosis
Metabolic
* Blood gas (arterial or venous), ammonia, lactic acid, CK, & glucose
* Plasma free & total carnitine, plasma amino acids, & urine organic acids
Laboratory studies should be obtained urgently if an acute metabolic crisis is suspected or routinely as part of baseline testing for those w/hepatic or myopathic forms.
NeurologicAssessment for muscular weaknessIf myopathic form is suspected
Miscellaneous/
OtherConsultation w/clinical geneticist &/or genetic counselorTo incl genetic counseling
### Treatment of Manifestations
#### Early-Onset Neurologic Presentation
The multiple strategies that have been attempted in children with an early-onset neurologic presentation do not appear to significantly alter the natural history of disease. Even with treatment, children often die in the neonatal/infantile period or, if they survive the initial episode, experience various degrees of chronic neurologic impairment.
### Table 9.
Routine Daily Treatment in Individuals with Early-Onset Neonatal Dihydrolipoamide Dehydrogenase Deficiency
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Principle/ManifestationTreatmentConsideration/Other
Protein/BCAA restriction 1, 2, 3BCAA-free powder formulaLeucine tolerance for neonates: 65-85 mg/kg/day
Natural protein as a source of essential & nonessential amino acids: 2-3 g/kg/day
* Breast milk or regular infant formula can be used as a natural protein source.
* Dried blood spots by overnight mail for monitoring of amino acid concentrations if available (See Surveillance.) 4
Defective carbohydrate oxidationKetogenic/high-fat diet 5Of 7 individuals treated:
* 5 had no clinical benefit, & 2 of the 5 experienced ↑ in acidosis & hypoglycemia; 5
* 2 improved clinically. 6
Inhibition of PDH kinase activityDCA supplementation (50-75 mg/kg/day)
* 4 of 5 persons treated w/DCA in the literature experienced at least transient ↓s in lactic acid elevations.
* Chronic use of DCA can result in polyneuropathy.
Poor weight gain /
Failure to thriveFeeding therapy; gastrostomy tube placement may be required for persistent feeding issues.Low threshold for clinical feeding eval &/or radiographic swallowing study when showing clinical signs or symptoms of dysphagia
Developmental delay /
Intellectual disabilityStandard treatment per developmental pediatrician / neurodevelopmental teamIncl PT, OT, & speech therapy as indicated
Cardiac dysfunctionStandard treatment per cardiologist
Vision impairment /
Optic atrophyStandard treatment per ophthalmologist
BCAA = branched-chain amino acids; DCA = dichloroacetate; OT = occupational therapy; PDH = pyruvate dehydrogenase; PT = physical therapy
1\.
Recommendations are based on decreased branched-chain α-ketoacid dehydrogenase (BCKDH) complex activity.
2\.
Restriction of protein to recommended dietary allowances has been attempted with questionable results.
3\.
Three of the six reported individuals experienced laboratory and/or clinical improvement with the use of protein restriction alone or in combination with medication therapy.
4\.
For rapidly growing infants, monitoring weekly or twice weekly is recommended.
5\.
Ketogenic/high-fat diets are frequently employed in individuals who have pyruvate dehydrogenase (PDH) complex deficiency [Patel et al 2012].
6\.
One was treated with lipid infusions (instead of high-dextrose infusions) during acute episodes [Hong et al 1997, Cerna et al 2001].
Additional therapies used with limited success include the following:
* Thiamine
* Coenzyme Q10
* Lipoic acid
* Riboflavin (though effective in one person with the myopathic form of DLD deficiency)
* Biotin
### Table 10.
Acute Inpatient Treatment in Individuals with Early-Onset Neonatal Dihydrolipoamide Dehydrogenase Deficiency
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Manifestation/ConcernTreatmentConsideration/Other
Underlying precipitating factorsAny precipitating factors (infection, fasting, medications) should be treated/discontinued as soon as possible.
Metabolic acidosis
* For severe metabolic acidosis (pH <7.20) or if bicarbonate is ≤14 mEq/L, initiate bicarbonate therapy.
* A common formula for bicarbonate dose: bicarbonate (mEq) = 0.5 x weight (kg) x [desired bicarbonate - measured bicarbonate]
* Administer 1/2 of calculated dose as slow bolus & remaining 1/2 over 24 hrs.
* Metabolic acidosis usually improves w/generous fluid & calorie support. 1
* Bicarbonate therapy needed for severe metabolic acidosis 2
Promotion of an anabolic stateD10 (half or full-normal saline) w/age-appropriate electrolytes should be started at maintenance rate & adjusted based on presence or absence of ↑ intracranial pressure or hypoglycemia.
* Maintain glucose concentration in normal range.
* Intralipids can be added to provide additional calories w/cautious monitoring for acidemia.
Correction of ↑ leucine concentration 3
* Withhold protein should initially for maximum of 24 hrs to avoid worsening of catabolism.
* Then gradually reintroduce protein.
BCAAs should be introduced slowly & followed closely w/frequent plasma amino acid evaluations; see also MSUD.
Consider renal replacement therapies in clinical settings w/appropriate resources & expertiseWhen hemodialysis is used it must be coupled w/effective nutritional mgmt to constrain the catabolic response & prevent recurrent clinical intoxication. 4
Total protein intake (enteral + parenteral): 2-3.5 g/kg/day as BCAA-free amino acidsFor individuals of any age who can tolerate enteral feeding (even if intubated), continuous nasogastric delivery (30-60 mL/hr) of a BCAA-free formula (0.7-1.2 kcal/mL) supplemented w/1% liquid solutions of isoleucine & valine can meet protein goals while providing additional calories.
Isoleucine & valine supplements (enteral + parenteral): 20-120 mg/kg/day each; titrate to plasma concentrations of 400-800 µmol/LFor parenteral administration, isoleucine & valine are each prepared as separate 1% solutions in normal saline.
Maintain serum osmolality w/in normal reference range (i.e., 275-300 mOsm/kg H2O). 5Establish euvolemia using isotonic sodium chloride solutions.Overhydration & quickly infused boluses of fluids should be avoided if possible.
Measure serum osmolality & electrolytes every 6-12 hrs.Prevent serum osmolality from decreasing >5 mOsm/kg H2O per day (0.20 mOsm/kg H2O per hr).
Hypoglycemia
* Start IV fluid.
* Maintain blood glucose >100 mg/dL. 6
* High-dose glucose needed to avoid catabolism
* If there is hyperglycemia, start insulin infusion rather than ↓ glucose infusion rate.
Hyperammonemia
* Hyperammonemia improves w/reversal of catabolism.
* A high-dose glucose infusion w/insulin infusion is helpful in achieving this goal.
* If severe hyperammonemia & altered mental status persist after above measures, extracorporeal toxin removal procedures such as hemodialysis & hemofiltration should be considered.
Although IV sodium benzoate + sodium phenylacetate have been used in such circumstances, their utility in DLD deficiency is doubtful, as most hyperammonemia is accompanied/caused by liver dysfunction, which is responsible for metabolism of nitrogen scavenger medications as well.
Carnitine deficiencyLevocarnitine (IV or PO) 50-100 mg/kg/day divided three times per day should be given during the acute period.
Lactic acidosisDCA can be considered & continued.
* If lactate decreases with its introduction
* Polyneuropathy is a concern w/long-term use.
SeizuresStandardized treatment w/AEDs by experienced neurologist
* Many different AEDs may be effective; none has been demonstrated effective specifically for this disorder.
* As seizures typically occur during acute decompensations, AEDs may be discontinued when metabolic control is achieved.
AEDs = antiepileptic drugs; BCAAs = branched-chain amino acids; DCA = dichloroacetate; IV = intravenous; MSUD = maple syrup urine disease; PO = orally
1\.
Although dextrose infusions may theoretically cause further lactate elevations during acute episodes, provision of dextrose-containing IV fluids is essential for the majority of acutely decompensated individuals. Only one affected individual experienced worsening acidosis with increased dextrose concentrations in the TPN.
2\.
Note that bicarbonate therapy alone is not sufficient to correct the metabolic acidosis. Correction of metabolic acidosis relies on reversing the catabolic state by providing calorie support from glucose and interlipids.
3\.
See also Maple Syrup Urine Disease, Management.
4\.
Dialysis without simultaneous management of the underlying disturbance of protein turnover is analogous to treating diabetic ketoacidosis with invasive removal of glucose and ketones rather than insulin infusion. In both conditions, effective treatment depends not only on lowering concentrations of pathologic metabolites, but also on controlling the underlying metabolic derangement.
5\.
To help avoid increased intracranial pressure
6\.
If provision of dextrose-containing fluids worsens metabolic acidosis, consider decreasing the infusion rate and providing the majority of calories in the form of intralipid.
#### Hepatic Presentation
Episodes of catabolic stress (e.g., intercurrent illness, surgical procedures, pregnancy) require the assistance/care of a biochemical geneticist.
### Table 11.
Acute Treatment in Individuals with Acute Liver Injury or Failure Due to Dihydrolipoamide Dehydrogenase Deficiency
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Principle/ManifestationTreatmentConsideration/Other
Underlying precipitating factorsAny precipitating factors (infection, fasting, medications) should be treated/discontinued as soon as possible.Avoidance of liver-toxic medications (See Agents/Circumstances to Avoid.)
Nutritional supportDextrose-containing IV fluids (6-8 mg/kg/min) w/age-appropriate electrolytes &/or frequent feedings
Metabolic acidosisConsider correction using sodium bicarbonate (see Table 10).
Lactic acidosisDCA can be considered.If lactate decreases w/its introduction
Consideration of dialysisIf persistent lactic acidosis & encephalopathy 2
CoagulopathyFresh frozen plasma
DCA = dichloroacetate; IV = intravenous
1\.
Brassier et al [2013]
2\.
Successful in one affected individual
Limited data exist for chronic management of individuals with the primarily hepatic presentation. Between episodes, affected individuals typically return to baseline and do not require treatment beyond the avoidance of fasting, catabolic stressors, and liver-toxic medications.
#### Myopathic Presentation
At least one affected individual with severe exercise intolerance responded well to riboflavin supplementation (220 mg/day), with resolution of symptoms [Carrozzo et al 2014].
### Prevention of Primary Manifestations
No compelling evidence exists for the prevention of acute episodes, despite multiple attempted dietary strategies and medications. The frequency of acute episodes decreases with age in most patients with all forms of DLD deficiency.
* Provide protein intake at or around recommended dietary allowance and titrate based on growth and plasma amino acid values. See Maple Syrup Urine Disease for the recommended intake and target levels of leucine, isoleucine, and valine.
* Supplement with levocarnitine if deficient.
### Prevention of Secondary Complications
Dichloroacetate has been associated with the development of peripheral neuropathy; thus, individuals receiving this medication require close monitoring.
### Surveillance
### Table 12.
Recommended Surveillance for Individuals with Dihydrolipoamide Dehydrogenase Deficiency
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System/ConcernEvaluationFrequency/Comment
FeedingMeasurement of growth parameters & eval of nutritional status & safety of oral intakeAt each visit
Control of plasma
amino acid levelsFull amino acid profile (either from plasma or filter paper)
* For rapidly growing infants, monitoring weekly or 2x weekly
* Routinely in older individuals 1
Visit w/metabolic specialistAt least monthly in infancy
Delayed acquisition
of developmental
milestonesMonitor developmental milestones. 2, 3At each visit or as needed
Hepatomegaly
* Physical exam &/or ultrasound to assess size of liver
* Blood measurements of liver transaminases & assessment of liver synthetic function
At each visit
NeurologicPhysical exam to evaluate for peripheral neuropathy & EMG if clinically concerned 4
MusculoskeletalPhysical medicine, OT/PT assessment of mobility, self-help skills
CardiomyopathyEchocardiogramAt least annually or based on clinical status
EyesOphthalmologic evalAs clinically indicated
OT = occupational therapy; PT = physical therapy
1\.
The frequency of amino acid monitoring varies by age, metabolic stability, compliance, and regional clinical practice and should be guided by a biochemical geneticist in conjunction with a qualified metabolic nutritionist.
2\.
The Denver Developmental Screening Test II or a comparable tool is useful for monitoring development of infants and young children.
3\.
School-age children, adolescents, and adults should have neurocognitive testing if indicated by school performance or behavioral problems.
4\.
In individuals receiving dichloroacetate.
### Agents/Circumstances to Avoid
Avoid the following:
* Fasting
* Catabolic stressors
* Extremes of dietary intake until dietary tolerance/stressors are identified
* Liver-toxic medications
### Evaluation of Relatives at Risk
Testing of all at-risk sibs of any age is warranted to allow for early diagnosis and treatment of DLD deficiency and to avoid risk factors that may precipitate an acute event. For at-risk newborn sibs when molecular genetic prenatal testing was not performed: in parallel with newborn screening, either test for the familial DLD pathogenic variants or measure plasma lactate, plasma amino acids, and urine organic acids.
See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.
### Therapies Under Investigation
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. Note: There may not be clinical trials for this disorder.
*[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
|
Dihydrolipoamide Dehydrogenase Deficiency
|
c3492932
| 27,970 |
gene_reviews
|
https://www.ncbi.nlm.nih.gov/books/NBK220444/
| 2021-01-18T21:30:17 |
{"mesh": ["C573012"], "synonyms": ["DLD Deficiency", "E3 Deficiency"]}
|
For a discussion of genetic heterogeneity of temporal lobe epilepsy, see ETL1 (600512).
Clinical Features
Chahine et al. (2013) reported a 4-generation Caucasian family in which 7 individuals had temporal lobe epilepsy, and 4 had febrile seizures during childhood but no subsequent epilepsy. The age at onset of temporal seizures was extremely variable, ranging from 3 to 46 years. Seizure types included simple and complex partial seizures; secondary generalization and status epilepticus were rare. The 4 patients with isolated febrile seizures had onset between 5 months and 5 years. The 62-year-old proband with temporal lobe epilepsy reported aura, and EEG showed right temporal sharp waves and irregular slow activity. The seizures were responsive to medication. Many of the other patients reported focal epilepsy suggestive of a mesial temporal origin, and most had aura. Brain MRI, performed in 3 patients, was normal, although 1 patient had 2 nonspecific foci of periventricular T2-signals. Hippocampal sclerosis was not observed. EEG results from patients other than the proband were normal.
Inheritance
The transmission pattern of temporal lobe epilepsy in the family reported by Chahine et al. (2013) was consistent with autosomal dominant inheritance with incomplete penetrance.
Mapping
By genomewide linkage analysis of a family with autosomal dominant temporal lobe epilepsy, Chahine et al. (2013) found linkage to a 13-cM region on chromosome 3q25-q26 between markers D3S1584 and D3S3520 (peak multipoint lod score of 3.23). Mutations in the KCNAB1 (601141) and NLGN1 (600568) genes were excluded. Chahine et al. (2013) noted that the locus overlapped somewhat with that of FEB10 (612637), but considered the phenotypes to be sufficiently different.
INHERITANCE \- Autosomal dominant NEUROLOGIC Central Nervous System \- Seizures, partial \- Partial complex seizures \- Aura \- Rare secondary generalization \- Febrile seizures (in some patients) MISCELLANEOUS \- One family has been reported (as of curation date March, 2014) \- Onset of temporal lobe seizures between 3 and 46 years \- Onset of febrile seizures between 6 months and 5 years \- Incomplete penetrance \- Good response to treatment: ▲ 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
|
EPILEPSY, FAMILIAL TEMPORAL LOBE, 6
|
c3810320
| 27,971 |
omim
|
https://www.omim.org/entry/615697
| 2019-09-22T15:51:18 |
{"doid": ["0060749"], "omim": ["615697"], "orphanet": ["163717"], "synonyms": ["Benign FMTLE"]}
|
Pinheiro and Freire-Maia (1987) described a distinctive disorder in many members of 6 generations of a family. The disorder combined various degrees of trichodysplasia and xeroderma. Trichodysplasia was a general term they used for all types of hair disturbances from alopecia and hypotrichosis to structural changes such as pili torti and trichorrhexis nodosa. The proband, a 30-year-old man, was healthy but had sparse, coarse, brittle, slow-growing and excessively dry scalp hair. Eyebrows were irregularly sparse and eyelashes were scanty and short. Beard was absent. Axillary and pubic hair was sparse. Scanning electron microscopy of hair showed pili torti, scaling, and dystrophic bulbs. The skin was moderately dry.
Hair \- Trichodysplasia \- Alopecia \- Hypotrichosis \- Pili torti \- Trichorrhexis nodosa \- Sparse, coarse, brittle, slow-growing, dry scalp hair \- Eyebrows irregularly sparse \- Eyelashes scanty and short \- Beard absent \- Axillary and pubic hair sparse Inheritance \- Autosomal dominant Lab \- Pili torti, scaling, and dystrophic hair bulbs on EM Skin \- Xeroderma \- Dry skin ▲ 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
|
TRICHODYSPLASIA-XERODERMA
|
c1860822
| 27,972 |
omim
|
https://www.omim.org/entry/190360
| 2019-09-22T16:32:24 |
{"mesh": ["C566032"], "omim": ["190360"], "orphanet": ["3361"]}
|
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Ape hand deformity" – news · newspapers · books · scholar · JSTOR (November 2009) (Learn how and when to remove this template message)
Ape hand deformity
Other namesSimian hand
Ape hand deformity
Ape hand deformity is a deformity in humans who cannot move the thumb away from the rest of the hand. It is an inability to abduct the thumb.[1] Abduction of the thumb refers to the specific capacity to orient the thumb perpendicularly to the ventral (palmar) surface of the hand. Opposition refers specifically the ability to "swing" the first metacarpal such that the tip of the thumb may touch the distal end of the 5th phalanx and if we put the hand on the table as the palm upward the thumb can not point to the sky. The Ape Hand Deformity is caused by damage to the distal median nerve (also called a Median Claw lesion), and subsequent loss of opponens pollicis muscle function. The name "ape hand deformity" is misleading, as apes have opposable thumbs.
It can occur with an injury of the median nerve either at the elbow or the wrist, impairing the thenar muscles and opponens pollicis muscle.[2]
Ape hand deformity is one aspect of median nerve palsy, which is usually caused by deep injuries to the arm, forearm and wrist area.
## Additional images[edit]
Ape Hand Deformity
Ape Hand Deformity
Ape hand caused by median and ulnar nerve lesions.
## See also[edit]
* Recurrent branch of the median nerve
* Median nerve palsy
## References[edit]
1. ^ "Anatomy Tables - Hand". Archived from the original on 2008-01-18. Retrieved 2009-11-02.
2. ^ "Gross Anatomy: THE BRACHIAL PLEXUS". Archived from the original on 2009-09-04. Retrieved 2009-11-02.
* v
* t
* e
Diseases relating to the peripheral nervous system
Mononeuropathy
Arm
median nerve
* Carpal tunnel syndrome
* Ape hand deformity
ulnar nerve
* Ulnar nerve entrapment
* Froment's sign
* Ulnar tunnel syndrome
* Ulnar claw
radial nerve
* Radial neuropathy
* Wrist drop
* Cheiralgia paresthetica
long thoracic nerve
* Winged scapula
* Backpack palsy
Leg
lateral cutaneous nerve of thigh
* Meralgia paraesthetica
tibial nerve
* Tarsal tunnel syndrome
plantar nerve
* Morton's neuroma
superior gluteal nerve
* Trendelenburg's sign
sciatic nerve
* Piriformis syndrome
Cranial nerves
* See Template:Cranial nerve disease
Polyneuropathy and Polyradiculoneuropathy
HMSN
* Charcot–Marie–Tooth disease
* Dejerine–Sottas disease
* Refsum's disease
* Hereditary spastic paraplegia
* Hereditary neuropathy with liability to pressure palsy
* Familial amyloid neuropathy
Autoimmune and demyelinating disease
* Guillain–Barré syndrome
* Chronic inflammatory demyelinating polyneuropathy
Radiculopathy and plexopathy
* Brachial plexus injury
* Thoracic outlet syndrome
* Phantom limb
Other
* Alcoholic polyneuropathy
Other
General
* Complex regional pain syndrome
* Mononeuritis multiplex
* Peripheral neuropathy
* Neuralgia
* Nerve compression syndrome
This article about a medical condition affecting the nervous system 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
|
Ape hand deformity
|
c0264144
| 27,973 |
wikipedia
|
https://en.wikipedia.org/wiki/Ape_hand_deformity
| 2021-01-18T18:50:59 |
{"umls": ["C0264144"], "wikidata": ["Q4779281"]}
|
A number sign (#) is used with this entry because of evidence that autosomal dominant striatal degeneration-1 (ADSD1) is caused by heterozygous mutation in the PDE8B gene (603390) on chromosome 5q13.
See also infantile striatonigral degeneration (SNDI; 271930), a more severe disorder caused by mutation in the NUP62 gene (605815).
Description
Autosomal dominant striatal degeneration is a neurologic disorder characterized by variable movement abnormalities due to dysfunction in the striatal part of the basal ganglia (summary by Kuhlenbaumer et al., 2004).
### Genetic Heterogeneity of Autosomal Dominant Striatal Degeneration
See also ADSD2 (616922), caused by mutation in the PDE10A gene (610652) on chromosome 6q27.
Clinical Features
Kuhlenbaumer et al. (2004) reported a large German family in which 8 members spanning 3 generations had basal ganglia disease inherited in an autosomal dominant pattern. Family history suggested 5 affected members in previous generations. The proband presented at age 38 years with mild slurring of speech and 'stiffness' in her tongue. The dysarthria progressed, and the patient later developed gait disturbance, mild bradykinesia, dysdiadochokinesia, and brisk lower extremity reflexes. Tremor was not present and the symptoms did not respond to levodopa treatment, thus clearly distinguishing the disorder from Parkinson disease (168600). Other affected family members had similar symptoms with onset in the fourth or fifth decade, but the exact age at onset could not be determined because of the insidious onset and slow progression of the disorder. Cranial MRI studies showed characteristic symmetric abnormalities of the basal ganglia, primarily a signal increase on T2-weighted images and a corresponding signal decrease on T1-weighted images. Lesions appeared to start in the dorsal putamen and later involved the caudate. Large lesions showed a slight mass effect. Kuhlenbaumer et al. (2004) noted that the disorder in this family, which they termed 'autosomal dominant striatal degeneration (ADSD),' showed some similarities to adult-onset basal ganglia disease (606159), which is caused by mutation in the ferritin light chain gene (FTL; 134790) on chromosome 19q13. However, that disease is characterized by hyperkinesia, whereas ADSD shows hypokinesia.
Barsottini et al. (2015) reported a 60-year-old Portuguese woman who presented with a 2-year history of progressive slowness of movements and slurred speech. Physical examination showed mild bradykinesia, dysarthria, and brisk deep tendon reflexes. The symptoms did not respond to dopamine treatment. Brain imaging showed symmetric lesions of the striatum, with a putaminal lesion showing an anteroposterior gradient with relative sparing of the anterior region. The nucleus accumbens and medial portion of the caudate head were also affected. There was also symmetric restricted diffusion in the dorsal portion of the putamen, nucleus accumbens, and tail of the caudate nucleus. The patient's deceased mother and brother reportedly had parkinsonism, but samples were not available for study.
Azuma et al. (2015) reported a Japanese mother and son with ADSD1. Although the mother had mild dysarthria at age 17 years, both presented with gait difficulties associated with parkinsonism and more severe dysarthria in their thirties. Head CT of the mother at age 39 showed low-density areas in the basal ganglia. At age 69, she had parkinsonism that was not responsive to dopaminergic treatment. Brain MRI showed atrophic changes in the putamen and increased T2-weighted signals in the caudate and putamen. Her son had similar clinical and radiographic features in this thirties. In addition, PET imaging performed in the son demonstrated markedly decreased pre- and postsynaptic dopaminergic function in the striatum.
Inheritance
The transmission pattern of ADSD1 in the family reported by Azuma et al. (2015) was consistent with autosomal dominant inheritance.
Mapping
By genomewide linkage analysis, Kuhlenbaumer et al. (2004) mapped a candidate ADSD disease locus to a 3.25-Mb region on chromosome 5q13.3-q14.1 (maximum lod score of 4.10 at marker D5S1962). All affected family members shared a disease-associated haplotype.
Molecular Genetics
In affected members of the family with adult-onset autosomal dominant striatal degeneration reported by Kuhlenbaumer et al. (2004), Appenzeller et al. (2010) identified a heterozygous mutation in the PDE8B gene (603390.0002), resulting in a loss of protein function.
In a 60-year-old Portuguese woman with ADSD1, Barsottini et al. (2015) identified a heterozygous truncating mutation in the PDE8B gene (603390.0003). Functional studies of the variant and studies of patient cells were not performed.
In a Japanese mother and son with ADSD1, Azuma et al. (2015) identified a heterozygous truncating mutation in the PDE8B gene (603390.0004). Functional studies of the variant and studies of patient cells were not performed. Azuma et al. (2015) postulated that the mutation would disrupt proper regulation of cAMP, which is a second messenger of dopamine signaling downstream of the dopamine receptor.
INHERITANCE \- Autosomal dominant NEUROLOGIC Central Nervous System \- Dysarthria, slowly progressive \- Gait difficulties \- Bradykinesia \- Hypokinesia \- Rigidity \- Dysdiadochokinesia \- Brisk lower extremity reflexes \- No tremor \- Symmetric lesions of the basal ganglia, particularly caudate and putamen, seen on MRI \- Lesions show signal increase on T2- and signal decrease on T1-weighted images \- Basal ganglia lesions may be present before onset of clinical symptoms \- Nucleus accumbens involvement MISCELLANEOUS \- Onset 30-40 years of age \- Slowly progressive \- No response to L-Dopa treatment \- Distinct disorder from Parkinson disease ( 168600 ) MOLECULAR BASIS \- Caused by mutation in the phosphodiesterase 8B gene (PDE8B, 603390.0002 ) ▲ 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
|
STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 1
|
c1836694
| 27,974 |
omim
|
https://www.omim.org/entry/609161
| 2019-09-22T16:06:35 |
{"doid": ["4751"], "mesh": ["C563783"], "omim": ["609161"], "orphanet": ["228169"]}
|
For a phenotypic description and a discussion of genetic heterogeneity of systemic lupus erythematosus (SLE), see 152700.
Mapping
Graham et al. (2008) carried out a genomewide association scan in 431 unrelated SLE cases and 2,155 controls and a replication study in 740 independent trios and found association between SLE and rs5029939, a variant in the TNFAIP3 gene (191163) on chromosome 6q23 (metaanalysis P = 2.89 x 10(-12), OR = 2.29). Graham et al. (2008) also found evidence of 2 independent signals near TNFAIP3 associated with SLE, including one, rs6920220, previously associated with rheumatoid arthritis (180300). In addition to TNFAIP3, associations with HLA and IRF5 (612251) were confirmed in this study.
Musone et al. (2008) performed a genomewide association study in 1,239 SLE cases and 1,629 controls of European ancestry and identified 3 independently associated SNPs in the TNFAIP3 region: rs13192841, which generated an OR of 1.4, 95% CI = 1.2-1.6, P = 5.4 x 10(-8); rs2230926, OR = 2.0, 95% CI = 1.4-3.0, P = 3.0 x 10(-4); and rs6922466, OR = 1.3, 95% CI = 1.1-1.4, P = 1.0 x 10(-4).
To identify risk loci for SLE susceptibility, Gateva et al. (2009) selected SNPs from 2,466 regions that showed nominal evidence of association with SLE (P less than 0.05) in a genomewide study and genotyped them in an independent sample of 1,963 cases and 4,329 controls. Gateva et al. (2009) showed an association with the TNFAIP3 gene at rs5029937 (combined P value = 5.3 x 10(-13), odds ratio = 1.71, 95% confidence interval = 1.51-1.95).
Lodolce et al. (2010) noted that there are 2 nonsynonymous coding polymorphisms in the deubiquitinating (DUB) domain of TNFAIP3: phe127 to cys (F127C ; rs2230926), which is in high linkage disequilibrium with SLE risk variants in people of European descent, and ala125 to val (A125V; rs5029941). They performed a case-control study with 217 African-American SLE patients using these coding variants, along with 6 tagging SNPs in TNFAIP3, and identified a novel African-derived risk haplotype. Although F127C was associated with SLE risk in this African American population, the most significant SLE-associated risk variant was an African-derived tagging SNP, rs5029953 (p = 0.008; odds ratio = 1.6). The rare minor allele of A125V was associated with protection from SLE in African Americans (p = 0.05; odds ratio = 0.38) and with susceptibility to inflammatory bowel disease (IBD; 266600) (p = 0.027; odds ratio = 3.73). Enzymatic functional analysis showed that A125V was associated with diminished TNFAIP3 deubiquitinating activity, and computer modeling suggested that A125V altered the 3-dimensional structure of the DUB domain to a greater extent than F127C.
Adrianto et al. (2011) used fine mapping and genomic resequencing in ethnically diverse populations with SLE to fully characterize the TNFAIP3 risk haplotype and identified a TT-A polymorphic dinucleotide (deletion T followed by a T-to-A transversion) associated with SLE in subjects of European (p = 1.58 x 10(-8), odds ratio = 1.70) and Korean (p = 8.33 x 10(-10), odds ratio = 2.54) ancestry. This variant, located in a region of high conservation and regulatory potential, bound a nuclear protein complex composed of NF-kappa-B subunits (see 164011) with reduced avidity. Further, compared with the nonrisk haplotype, the haplotype carrying this variant resulted in reduced TNFAIP3 mRNA and A20 protein expression. Adrianto et al. (2011) concluded that their results established this TT-A variant as the most likely functional polymorphism responsible for the association between TNFAIP3 and SLE.
*[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
|
SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 13
|
c2676487
| 27,975 |
omim
|
https://www.omim.org/entry/612378
| 2019-09-22T16:01:42 |
{"omim": ["612378"]}
|
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Spondyloperipheral dysplasia" – news · newspapers · books · scholar · JSTOR (August 2010) (Learn how and when to remove this template message)
Spondyloperipheral dysplasia
Other namesSpondyloperipheral dysplasia-short ulna syndrome
Spondyloperipheral dysplasia has an autosomal dominant pattern of inheritance.
Spondyloperipheral dysplasia is an autosomal dominant[1] disorder of bone growth. The condition is characterized by flattened bones of the spine (platyspondyly) and unusually short fingers and toes (brachydactyly). Some affected individuals also have other skeletal abnormalities, short stature, nearsightedness (myopia), hearing loss, and mental retardation. Spondyloperipheral dysplasia is a subtype of collagenopathy, types II and XI.
## Contents
* 1 Genetics
* 2 Diagnosis
* 3 Management
* 4 References
* 5 External links
## Genetics[edit]
Spondyloperipheral dysplasia is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene, located on chromosome 12q13.11-q13.2.[2] The protein made by this gene forms type II collagen, a molecule found mostly in cartilage and in the clear gel that fills the vitreous humour (the eyeball). Type II collagen is essential for the normal development of bones and other connective tissues (the tissues that form the body's supportive framework).
Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules. The protein made by the altered COL2A1 gene cannot be used to make type II collagen, resulting in a reduced amount of this type of collagen in the body. Instead of forming collagen molecules, the abnormal protein builds up in cartilage cells (chondrocytes). These changes disrupt the normal development of bones, leading to the signs and symptoms of spondyloperipheral dysplasia.
The disorder is believed to be inherited in an autosomal dominant manner.[1] This indicates that the defective gene responsible for the disorder is located on an autosome (chromosome 12 is an autosome), and only one copy of the defective gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.
## Diagnosis[edit]
This section is empty. You can help by adding to it. (August 2017)
## Management[edit]
This section is empty. You can help by adding to it. (August 2017)
## References[edit]
1. ^ a b Zabel, B.; Hilbert, K.; Stöß, H.; Superti-Furga, A.; Spranger, J.; Winterpacht, A. (May 1996). "A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia". American Journal of Medical Genetics. 63 (1): 123–128. doi:10.1002/(SICI)1096-8628(19960503)63:1<123::AID-AJMG22>3.0.CO;2-P. PMID 8723097.
2. ^ Online Mendelian Inheritance in Man (OMIM): 120140
This article incorporates public domain text from Spondyloperipheral dysplasia at NLM Genetics Home Reference
## External links[edit]
* Spondyloperipheral dysplasia short ulna at NIH's Office of Rare Diseases
Classification
D
* OMIM: 271700
* MeSH: C535799
* DiseasesDB: 34165
* SNOMED CT: 702339001
External resources
* Orphanet: 1856
* v
* t
* e
Diseases of collagen, laminin and other scleroproteins
Collagen disease
COL1:
* Osteogenesis imperfecta
* Ehlers–Danlos syndrome, types 1, 2, 7
COL2:
* Hypochondrogenesis
* Achondrogenesis type 2
* Stickler syndrome
* Marshall syndrome
* Spondyloepiphyseal dysplasia congenita
* Spondyloepimetaphyseal dysplasia, Strudwick type
* Kniest dysplasia (see also C2/11)
COL3:
* Ehlers–Danlos syndrome, types 3 & 4
* Sack–Barabas syndrome
COL4:
* Alport syndrome
COL5:
* Ehlers–Danlos syndrome, types 1 & 2
COL6:
* Bethlem myopathy
* Ullrich congenital muscular dystrophy
COL7:
* Epidermolysis bullosa dystrophica
* Recessive dystrophic epidermolysis bullosa
* Bart syndrome
* Transient bullous dermolysis of the newborn
COL8:
* Fuchs' dystrophy 1
COL9:
* Multiple epiphyseal dysplasia 2, 3, 6
COL10:
* Schmid metaphyseal chondrodysplasia
COL11:
* Weissenbacher–Zweymüller syndrome
* Otospondylomegaepiphyseal dysplasia (see also C2/11)
COL17:
* Bullous pemphigoid
COL18:
* Knobloch syndrome
Laminin
* Junctional epidermolysis bullosa
* Laryngoonychocutaneous syndrome
Other
* Congenital stromal corneal dystrophy
* Raine syndrome
* Urbach–Wiethe disease
* TECTA
* DFNA8/12, DFNB21
see also fibrous proteins
*[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
|
Spondyloperipheral dysplasia
|
c0796173
| 27,976 |
wikipedia
|
https://en.wikipedia.org/wiki/Spondyloperipheral_dysplasia
| 2021-01-18T18:56:30 |
{"gard": ["4994"], "mesh": ["C535799"], "umls": ["C0796173"], "orphanet": ["1856"], "wikidata": ["Q7578959"]}
|
A number sign (#) is used with this entry because of evidence that hypertrophic cardiomyopathy can be caused by heterozygous mutation in the gene encoding phospholamban (PLN; 172405) on chromosome 6q22.1.
For a phenotypic description and a discussion of genetic heterogeneity of familial hypertrophic cardiomyopathy, see CMH1 (192600).
Clinical Features
Minamisawa et al. (2003) studied a 2-generation family with hypertrophic cardiomyopathy (CMH) in which the female proband presented at 56 years of age with paroxysmal atrial fibrillation and was found to have left ventricular hypertrophy on electrocardiogram. Echocardiography showed that the thicknesses of the septum and posterior wall of the left ventricle were 30 mm and 13 mm, respectively. The diastolic and systolic dimensions of the left ventricle were 48 mm and 27 mm, respectively. The proband's family history was consistent with a late-onset type of CMH: her father, who had been diagnosed with cardiomyopathy, died at 82 years of age, and an older brother was also diagnosed with CMH at age 62 years.
Medin et al. (2007) studied a family in which the 85-year-old female proband was diagnosed with apical CMH at 67 years of age, with a maximum wall thickness of 22 mm at the apex and normal thickness in basal segments. She originally presented with palpitations and chest pain at 59 years of age but had normal coronary angiography; she developed atrial fibrillation 2 years later, and continued to have occasional episodes of angina. Her brother was diagnosed with apical CMH at 72 years of age after presenting with palpitations, remained in atrial fibrillation after diagnosis, had atypical chest pain, and died suddenly at 81 years of age. Screening of the proband's 3 asymptomatic sons revealed that 1 had apical CMH with mild hypertrophy at age 59 years; the other 2 had normal electro- and echocardiograms.
Chiu et al. (2007) reported a 65-year-old Australian woman who was diagnosed with CMH at age 61 years, in whom echocardiography revealed asymmetric septal hypertrophy with a maximum wall thickness of 20 mm, normal systolic contractile function, and no evidence of left ventricular dilation. She had recurrent atrial fibrillation, palpitations, dyspnea, and presyncope. Her mother had also been diagnosed with CMH and had died at age 80 years of noncardiac causes.
Landstrom et al. (2011) described a 4-generation family with CMH, in which the 58-year-old male proband presented with palpitations at age 51 years and was diagnosed with CMH. Over the next 2 years, he had recurrent palpitations and chest pain with normal angiography, and was diagnosed with Wolff-Parkinson-White preexcitation syndrome (WPW; see 194200). He eventually underwent placement of an internal cardioverter-defibrillator for symptomatic nonsustained ventricular tachycardia. The proband's deceased mother also had CMH, and a granddaughter, whose mother had no signs of CMH, was diagnosed with CMH by echocardiography.
Molecular Genetics
Minamisawa et al. (2003) analyzed the candidate PLN gene in 87 patients with hypertrophic cardiomyopathy (CMH), 10 with dilated cardiomyopathy (CMD; see CMD1P, 609909), and 2 patients with restricted cardiomyopathy (RCM; see 115210). In the proband of a 2-generation family with CMH, Minamisawa et al. (2003) identified heterozygosity for a mutation in the promoter region (172405.0004) that was not found in 296 Japanese controls. Direct sequencing of the CMH-associated genes MYH7 (160760), TNNT2 (191045), and MYBPC3 (600958) in the proband revealed no additional mutation in the regions of frequent occurrence of mutations in those genes.
Kalemi et al. (2005) analyzed the promoter region and 2 exons of the PLN gene in 53 Greek patients with CMH, including 35 unrelated patients and 21 patients from 9 families, but did not find any mutations or polymorphisms. The authors concluded that PLN mutations are not associated with CMH in patients from northern Greece. Kalemi et al. (2005) noted that because 95% of identified CMH-related mutations involve 4 genes, namely MYH7, TNNT2, MYBPC3, and TNNI3 (191044), a large cohort of CMH patients would be required to identify a novel CMH-causing gene.
Medin et al. (2007) performed SSCP mutation screening and DNA sequencing of the PLN gene in 101 CMH patients and 85 CMD patients and identified a point mutation in the promoter region (172405.0005) in an 85-year-old woman with CMH that was not found in more than 100 control subjects. In the proband, additional mutations in MYH7 and MYBPC3 were excluded by SSCP and sequencing of the entire coding sequence of both genes; screening of previously reported mutations in TNNT2, TNNI3, ACTC1 (102540), and TPM1 (191010) genes was also negative.
Chiu et al. (2007) screened an Australian cohort of 252 unrelated CMH patients for mutations in calcium regulatory genes and identified heterozygosity for a nonsense mutation in the PLN gene (L39X; 172405.0002) in a 65-year-old female proband. Landstrom et al. (2011) analyzed the PLN gene in a cohort of 1,064 CMH probands and identified heterozygosity for the L39X mutation in a 58-year-old male proband, who was negative for mutation in 9 myofilament genes known to be associated with CMH and was also negative for mutation in the PRKAG2 (602743), LAMP2 (309060), and GLA (300644) genes. The L39X mutation was also found in 1 asymptomatic daughter and a granddaughter, who had CMH by echocardiography.
Landstrom et al. (2011) analyzed the PLN gene in a cohort of 1,064 CMH probands and identified heterozygosity for the L39X mutation in a 58-year-old male proband, who was negative for mutation in 9 myofilament genes known to be associated with CMH and was also negative for mutation in the PRKAG2 (602743), LAMP2 (309060), and GLA (300644) genes. The L39X mutation was also found in 1 asymtomatic daughter and a granddaughter, who had CMH by echocardiography.
Petkow-Dimitrow et al. (2011) screened 50 consecutive patients with CMH from southern Poland for the R9C (172405.0001) and L39X mutations in the PLN gene but did not find those mutations in any patients or in 50 sex- and age-matched controls with normal echocardiograms.
INHERITANCE \- Autosomal dominant CARDIOVASCULAR Heart \- Left ventricular hypertrophy \- Apical hypertrophy (in some patients) \- Atrial fibrillation \- Atypical chest pain MOLECULAR BASIS \- Caused by mutation in the phospholamban gene (PLN, 172405.0002 ) ▲ 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
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18
|
c3151265
| 27,977 |
omim
|
https://www.omim.org/entry/613874
| 2019-09-22T15:57:08 |
{"omim": ["613874"], "genereviews": ["NBK1768"]}
|
A rare, genetic disorder of sex development characterized by primary amenorrhea, short stature, delayed bone age, decreased levels of estradiol, elevated levels of follicle-stimulating hormone and luteinizing hormone, absent or underdeveloped uterus and ovaries, delayed development of pubic and axillary hair, and normal 46,XX karyotype.
*[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,XX ovarian dysgenesis-short stature syndrome
|
c4015409
| 27,978 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=444048
| 2021-01-23T19:09:04 |
{"omim": ["616185"], "icd-10": ["Q96.8"]}
|
Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet.
*[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
|
Ectodermal dysplasia-syndactyly syndrome
|
c3150807
| 27,979 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=247820
| 2021-01-23T18:57:37 |
{"omim": ["613573"], "icd-10": ["Q82.8"], "synonyms": ["EDSS", "EDSS1"]}
|
A rare congenital limb malformation characterized by permanent and manually irreducible lateral dislocation of the kneecap. It typically presents with flexion contracture of the knee, genu valgus, absent or dysplastic trochlear groove of the femur, external rotation of the tibia, and dysfunction of the extensor mechanism. The defect may be unilateral or bilateral and can occur as an isolated malformation, be associated with other malformations of the lower limb, or be part of a polymalformative 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
|
Congenital patella dislocation
|
c0345360
| 27,980 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=295036
| 2021-01-23T17:01:35 |
{"gard": ["9692"], "mesh": ["C538081"], "umls": ["C0345360"], "icd-10": ["Q74.1"]}
|
Osteoporosis-oculocutaneous hypopigmentation syndrome is characterised by osteoporosis and congenital oculocutaneous hypopigmentation. Three cases have been described in the literature. The mode of inheritance appears to be autosomal 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
|
Osteoporosis-oculocutaneous hypopigmentation syndrome
|
c1832592
| 27,981 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2786
| 2021-01-23T18:07:47 |
{"gard": ["404"], "mesh": ["C536062"], "omim": ["601220"], "umls": ["C1832592"], "synonyms": ["Hernández-Fragoso syndrome", "OOCHS"]}
|
## Clinical Features
Collie et al. (1978) described a 'disorder' characterized by nearly uncontrollable paroxysms of sneezing provoked in a reflex fashion by the sudden exposure of a dark-adapted subject to intensely bright light, usually sunlight. The number of successive sneezes was usually 2 or 3, but could be as many as 43. The 4 authors were the probands of the 4 families they reported. Several instances of male-to-male transmission were noted. 'Photic sneeze reflex' was suggested as the appropriate designation by Everett (1964), who found it in 23% of Johns Hopkins medical students. Lewkonia (1969) described sneezing as a complication of slit lamp examination.
Sneezing in response to bright light was said by Peroutka and Peroutka (1984) to be a common yet poorly understood phenomenon. In a poll of 25 neurologists at Johns Hopkins, Peroutka and Peroutka (1984) found the phenomenon in 9, but only 2 of the respondents knew that such a specific reflex existed. The Peroutkas (father and daughter) reported the reflex in 3 generations of their family: grandfather, the father (the proband), his brother and his daughter. The index subject (S.J.P.) invariably sneezed twice when he moved from indoors into bright sunlight.
Katz et al. (1990) found light-induced sneezing in 5 of 19 patients with nephropathic cystinosis (219800). This was presumably related to the crystal deposition in the cornea.
Lerner (1991) took Hunter (1990) to task for referring to the photic sneeze reflex as a 'comic syndrome.' He cited reports by Beckman and Nordenson (1983), Forrester (1985), Morris (1987), and Lang and Howland (1987), in addition to those already cited here.
Benbow (1991) reported that he had suffered from photic sneezing for over 20 years and having just learned of its existence found that the 'symptoms are more easily tolerated if you can put a name to them, even if that produces only an illusory understanding of their significance.' He commented on the potential hazards of photic sneezing if it occurs while one is driving a car on a sunny day. He said that he found that 'sudden exposure to sunlight when emerging from a road tunnel of sufficient length is sure to induce a sneeze.' Furthermore, 'driving through sunlit gaps in otherwise dense forest or past blocks of buildings can bring on a sneeze.'
History
Duncan (1995) pointed out public awareness of the ACHOO syndrome is much more widespread than one might guess, to the point that it has entered into the popular wisdom conveyed to preschoolers. In a best-selling children's book by Berenstain and Berenstain (1981), Papa and Mama Bear are taking Sister Bear and Brother Bear to their pediatrician, Dr. Grizzly, for a check-up. The cubs are expressing their apprehension about the possibility of injections when Papa Bear suddenly cuts loose with an explosive sneeze. 'Bless you!' said Mama.' 'It's just this bright sunlight,' sniffed Papa. 'I never get sick.'
Lehvaslaiho (2003) found an early reference to the ACHOO syndrome by Aristotle (Barnes, 1984). In Book XXXIII, in a section entitled 'Problems concerning the nose,' Aristotle stated: 'Why is it that one sneezes more after one has looked at the sun? Is it because the sun engenders heat and so causes movement, just as does tickling the nose with a feather? For both have the same effect; by setting up movement they cause heat and create breath more quickly from the moisture; and it is the escape of this breath which causes sneezing.'
INHERITANCE \- Autosomal dominant NEUROLOGIC Central Nervous System \- Light-induced sneezing ▲ 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
|
ACHOO SYNDROME
|
c1863416
| 27,982 |
omim
|
https://www.omim.org/entry/100820
| 2019-09-22T16:45:30 |
{"mesh": ["C535300"], "omim": ["100820"], "synonyms": ["Alternative titles", "AUTOSOMAL DOMINANT COMPELLING HELIOOPHTHALMIC OUTBURST SYNDROME", "PHOTIC SNEEZE REFLEX", "SNEEZING FROM LIGHT EXPOSURE", "PEROUTKA SNEEZE"]}
|
A number sign (#) is used with this entry because of evidence that infantile hypotonia with psychomotor retardation and characteristic facies-3 (IHPRF3) is caused by homozygous or compound heterozygous mutation in the TBCK gene (616899) on chromosome 4q24.
Description
Infantile hypotonia with psychomotor retardation and characteristic facies-3 is a severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy. Most affected individuals show very poor, if any, normal psychomotor development, poor speech, and inability to walk independently (summary by Bhoj et al., 2016).
For a general phenotypic description and a discussion of genetic heterogeneity of infantile hypotonia with psychomotor retardation and characteristic facies, see IHPRF1 (615419).
Clinical Features
Chong et al. (2016) reported 5 children from 4 unrelated families with profound developmental disability with little progression beyond infancy, and severe hypotonia resulting in respiratory insufficiency and feeding tube placement. The patients ranged from 2 to 14 years in age. Two patients were from a consanguineous Lebanese family, 1 was from a consanguineous Egyptian family and had a similarly affected deceased sib, and 2 were unrelated and of Puerto Rican descent. Common dysmorphic facial features included bitemporal narrowing, arched eyebrows, deep-set eyes, high nasal bridge with anteverted nares, and Cupid bow. Three patients had coarse facial features, 2 had macroglossia, and 2 had gingival hyperplasia. Other features included decreased or absent reflexes, seizures, and cortical visual impairment. Brain imaging showed ventriculomegaly and cerebral atrophy, decreased cortical gray and white matter volume, thinning of the corpus callosum, small basal ganglia, cerebellar hypoplasia, and periventricular white matter abnormalities. Two first cousins had evidence of an axonal neuropathy and 2 additional patients had decreased activities of mitochondrial respiratory chain enzymes in muscle.
Bhoj et al. (2016) reported 13 patients from 9 unrelated families with IHPRF. The patients ranged from 2 to 12 years in age; 2 sibs had previously been reported by Alazami et al. (2015). The patients presented at birth with severe hypotonia, mostly with reduced reflexes, and severely delayed psychomotor development; most did not achieve independent walking and had delayed speech acquisition. Three had respiratory insufficiency and 5 had seizures. Most had variable dysmorphic facial features, such as sloped forehead, macrocephaly, bulbous nose, tented upper lip, and coarse features with macroglossia. Brain imaging in most patients showed diffuse brain atrophy, enlarged ventricles, thin corpus callosum, and periventricular white matter abnormalities. However, 2 unrelated patients were slightly less affected and had mild cognitive impairment with normal or only mildly abnormal brain imaging findings.
Inheritance
The transmission pattern of IHPRF3 in the families reported by Chong et al. (2016) and Bhoj et al. (2016) was consistent with autosomal recessive inheritance.
Molecular Genetics
In 2 sibs, born of consanguineous Saudi parents (family 10DG1670), with IHPRF3, Alazami et al. (2015) identified a homozygous splice site mutation in the TBCK gene (616899.0001). The patients were part of a large cohort of 143 multiplex consanguineous families with various neurodevelopmental disorders who underwent whole-exome sequencing.
In 5 patients, including 2 sisters, with IHPRF3, Chong et al. (2016) identified homozygous mutations in the TBCK gene (616899.0002-616899.0004). The mutations were found by whole-exome sequencing. Two unrelated patients of Puerto Rican descent carried the same truncating mutation (R126X; 616899.0002). Cells from 1 of these patients showed near absence of the full-length TBCK 101-kD isoform and decreased levels of the 71-kD shorter isoform, consistent with a loss of function.
In 13 patients from 9 unrelated families with IHPRF3, Bhoj et al. (2016) identified homozygous or compound heterozygous mutations in the TBCK gene (see, e.g., 616899.0001-616899.0002; 616899.0005-616899.0008). The mutations, which were found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the families. Studies of patient cells with a splice site mutation (616899.0001) showed undetectable levels of the TBCK protein. Studies of patient cells with a different frameshift mutation (616899.0005) showed significantly decreased phosphorylation of phosphoribosomal protein S6 (RPS6; 180460) compared to controls, suggesting downregulation of the mTOR signaling pathway. The addition of leucine to the culture media induced an upregulation of basal mTOR signaling as evidenced by increased levels of phosphorylated RPS6; these findings suggested a possible avenue for directed therapies for this disorder. Four patients from 3 families of Hispanic descent carried the R126X mutation, suggesting a founder effect in this population.
INHERITANCE \- Autosomal recessive HEAD & NECK Head \- Macrocephaly (in some patients) Face \- Coarse facies \- Bitemporal narrowing \- Sloping forehead Eyes \- Cortical visual impairment \- Arched eyebrows \- Deep-set eyes Nose \- High nasal bridge \- Bulbous nose \- Anteverted nares Mouth \- Tented upper lip \- Thick lips \- Macroglossia \- Gingival hyperplasia RESPIRATORY \- Respiratory insufficiency due to hypotonia ABDOMEN Gastrointestinal \- Feeding difficulties due to hypotonia MUSCLE, SOFT TISSUES \- Hypotonia, severe NEUROLOGIC Central Nervous System \- Delayed psychomotor development, profound \- Developmental regression \- Poor speech \- Seizures \- Enlarged ventricles \- Cerebral atrophy \- Thin corpus callosum \- Cerebellar hypoplasia \- Small basal ganglia \- Periventricular white matter abnormalities Peripheral Nervous System \- Hyporeflexia MISCELLANEOUS \- Onset at birth \- Variable severity MOLECULAR BASIS \- Caused by mutation in the TBC1 domain-containing kinase gene (TBCK, 616899.0001 ) ▲ 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
|
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
|
c4225161
| 27,983 |
omim
|
https://www.omim.org/entry/616900
| 2019-09-22T15:47:30 |
{"omim": ["616900"], "orphanet": ["488632"], "synonyms": []}
|
Deafness and myopia syndrome is rare condition that affects both hearing and vision. Beginning at birth or in early infancy, people with this condition have moderate to profound hearing loss in both ears that generally becomes worse over time. Affected people also develop severe myopia (nearsightedness) later in infancy or early childhood. Deafness and myopia syndrome is caused by changes (mutations) in the SLITRK6 gene and is inherited in an autosomal recessive manner. Treatment aims to improve hearing loss and correct myopia. Cochlear implantation may be an option for some affected people.
*[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 and myopia syndrome
|
c3806275
| 27,984 |
gard
|
https://rarediseases.info.nih.gov/diseases/12844/deafness-and-myopia-syndrome
| 2021-01-18T18:00:57 |
{"omim": ["221200"], "orphanet": ["363396"], "synonyms": ["High myopia-sensorineural deafness syndrome "]}
|
A rare epithelial tumor of the large intestine, arising from enterochromaffin cells, most commonly in the cecum or ascending colon. The tumor is usually slow-growing and can be diagnosed as an incidental finding in an asymptomatic patient, while in the later stages patients can present with abdominal pain, palpable abdominal mass, changes in bowel habits, signs of bowel obstruction, gastrointestinal bleeding, anorexia, weight loss or, rarely, carcinoid syndrome (facial flushing, diarrhea, tachycardia, hypo- and hypertension, cardiac abnormalities).
*[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
|
Neuroendocrine tumor of the colon
|
c1333097
| 27,985 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=100080
| 2021-01-23T18:14:13 |
{"synonyms": ["Colonic NET", "NET of the colon", "Neuroendocrine neoplasm of the colon"]}
|
A number sign (#) is used with this entry because of evidence that thanatophoric dysplasia type I (TD1) is caused by heterozygous mutation in the gene encoding the fibroblast growth factor receptor-3 (FGFR3; 134934) on chromosome 4p16.
Thanatophoric dysplasia type II (TD2; 187601), achondroplasia (ACH; 100800), and SADDAN (616482) are allelic disorders.
Description
Thanatophoric dysplasia is a severe short-limb dwarfism syndrome that is usually lethal in the perinatal period. Norman et al. (1992) classified cases of TD into subtypes based on the presence of curved as opposed to straight femurs; patients with straight, relatively long femurs always had associated severe cloverleaf skull and were designated TD type II (TD2), while TD cases with curved, short femurs with or without cloverleaf skull were designated TD type I (TD1) (Langer et al., 1987).
Clinical Features
Maroteaux et al. (1967) referred to patients with micromelic dwarfism who died in the first hours of life as having 'thanatophoric dwarfism.' The ribs and bones of the extremities were very short and the vertebral bodies were greatly reduced in height with wide intervertebral spaces; caudad narrowing of the spinal canal was not present. Radiologically, the vertebral bodies were H-shaped in frontal projection, and the femurs were shaped like telephone receivers. Maroteaux et al. (1967) found cases in the literature that matched this description, the earliest reported by Maygrier (1898).
Giedion (1968) described a Swiss patient with TD1 who had radioulnar synostosis and survived for 96 hours.
Stensvold et al. (1986) reported survival for 169 days. The child had increasing hydrocephalus and the femurs were shaped like telephone receivers. Tonoki (1987) described a patient who survived for 212 days.
MacDonald et al. (1989) reported unusually long survival; an unrelated boy and girl were still alive at the ages of 4.75 and 3.7 years, respectively. Both seemed to have disease of the usual severity. Surprisingly, the girl survived unsupported until age 2 months.
Knisely (1989) pointed out that megalencephaly and highly characteristic temporal lobe malformations are invariably present in thanatophoric dysplasia and that other abnormalities in central nervous system topography are frequently apparent by microscopy (Wongmongkolrit et al., 1983; Ho et al., 1984).
Baker et al. (1997) reported a patient with TD1 who survived beyond age 9 years. This patient also had acanthosis nigricans. The authors referred to another TD long-term survivor with acanthosis nigricans. This skin disorder also occurs in Crouzon syndrome (123500) when caused by a FGFR3 mutation (134934.0011). Genetic analysis in the patient of Baker et al. (1997) identified a common FGFR3 mutation (R248C; 134934.0005).
Pannier et al. (2009) reported a fetus with lethal TD1 ascertained at 24 weeks' gestation when the fetus was noted to have severe dwarfism. The pregnancy was terminated. Radiographic studies showed severe rhizomelic shortness of the long bones and mild bowing of the femora, radii, and ulnae. The spine showed severe platyspondyly with H-shaped vertebrae and narrowing of the interpediculate distance. The thorax was small with short ribs, and the iliac bones were short and wide. Macrocrania and frontal bossing were observed; there was no evidence of a cloverleaf skull. Postmortem examination showed cerebral cortical malformations with temporal lobe polymicrogyria and severe disorganization of growth plates in the long bones. Genetic analysis identified heterozygosity for 2 de novo missense mutations in the FGFR3 gene on the same allele (N540K and Q485R; 134934.0034). The authors noted that the N540K mutation in isolation (134934.0010) usually results in the less severe phenotype of hypochondroplasia (HCH; 146000).
### Reviews
Sillence et al. (1978) provided a review of neonatal dwarfism, including thanatophoric dysplasia.
Inheritance
Maroteaux et al. (1967) concluded that a dominant mutation was the most likely basis for this disorder, but that recessive inheritance could not be excluded.
Pena and Goodman (1973) reviewed reported cases and concluded that polygenic inheritance was most likely. They suggested an empiric recurrence risk in sibs of 2%. McKusick (1973) suggested genetic heterogeneity, with some recessive and many dominant new mutation cases.
Bouvet et al. (1974) found no increase in parental age and no increase in parental consanguinity among patients with thanatophoric dwarfism. They pictured concordantly affected twins.
Serville et al. (1984) reported identical twins who were both affected, bringing to 4 the number of such cases. This was in distinct contrast to the rarity of affected nontwin sibs; only Bouvet et al. (1974) and Partington et al. (1971) had described such cases, and thanatophoric dysplasia was associated with cloverleaf skull in the latter cases, consistent with TD2. Corsello et al. (1992) observed thanatophoric dysplasia in monozygotic male twins, only 1 of whom had cloverleaf skull.
In a population study in the West of Scotland for the period 1970 to 1983, Connor et al. (1985) found that TD had an incidence of 1 in 42,221 births, which was consistent with a new dominant mutation rate of 11.8 +/- 4.1 x 10(-6) mutations per gene per generation.
In a collaborative study in Spain, Martinez-Frias et al. (1988) identified 13 cases among 517,970 births, an incidence of 2.7 per 100,000 births. All cases were sporadic, and there was no evidence of parental consanguinity. Parental age was increased; the average age of the fathers was 34.8, as compared to 35.3 in an equal number of sporadic achondroplasia cases, and 30.0 in 10,624 control births. The findings were interpreted as supporting autosomal dominant inheritance with an overall mutation rate of 1.34 per 100,000 gametes, a value close to that observed in achondroplasia.
Young et al. (1989) described concordantly affected female monozygotic twins. Monozygosity was established by DNA minisatellite fingerprinting.
Diagnosis
### Prenatal Diagnosis
In utero diagnosis was demonstrated by Keats et al. (1970).
Although prenatal diagnosis of TD had been accomplished by ultrasonography in the second trimester (Schild et al., 1996), it was not always possible to distinguish between TD and other osteochondrodysplasias in utero.
Using restriction enzyme analysis, Sawai et al. (1999) identified a mutation in the FGFR3 gene in a fetus at 27 weeks' gestation.
Cytogenetics
Hersh et al. (1995) suggested that the gene mutant in TD might be on chromosome 1 or chromosome 10 because of the observation of a de novo 1;10 balanced translocation in an infant with this disorder. Although the possibility exists of genetic heterogeneity with one or more forms of TD due to mutations in a gene other than FGFR3, it is also possible that the balanced translocation was merely a coincidence in this case. The TD was classified as type I and there was no cloverleaf skull.
Molecular Genetics
Reardon et al. (1994) noted that fibroblast growth factor receptor-3 (FGFR3; 134934), which is mutant in achondroplasia, is structurally very similar to FGFR2. Their observation that FGFR2 mutations cause craniosynostosis suggested to them that the lethal skeletal disorder TD2 with cloverleaf skull (187601) may be a good candidate for further mutation searches in FGFR3. Furthermore, because of the phenotypic similarities between TD and homozygous achondroplasia, Arthur Beaudet independently suggested to Wasmuth (1995) that FGFR3 be studied in cases of TD. Indeed, Tavormina et al. (1995) found that 23 of 39 TD1 patients harbored amino acid substitutions in the extracellular domain of FGFR3. Of these, 22 patients were found to be heterozygous for the R248C substitution (134934.0005). One patient had a S371C substitution (134934.0006). Phenotypic heterogeneity was observed in TD1, in that 6 of 11 TD1 patients with cloverleaf skull and 16 of 28 patients without cloverleaf skull had the R248C mutation. Tavormina et al. (1995) found that all 16 patients with TD2 had a heterozygous K650E substitution (134934.0004). All 16 patients with TD2 had severe cloverleaf skull deformity with straight femurs. In a subsequent paper, Tavormina et al. (1995) identified a S249C mutation (134934.0013) in 4 cases of TD1. The authors proposed that the severe lethal phenotype in TD1 was more directly related to the introduction of a new cysteine residue than to the specific site of the amino acid substitution. They speculated that an unpaired cysteine residue in the cytoplasmic region of the protein may result in formation of intermolecular disulfide hybrids between two FGFR3 monomers, resulting in a constitutively active mutant receptor homodimer complex.
Rousseau et al. (1996) performed FGFR3 mutation analysis in 26 cases of TD1. Three missense mutations (Y373C, 134934.0016; R248C, 134934.0005; S249C, 134934.0013) accounted for 73% of the cases. Two stop codon mutations (X807R, 134934.0008; X807C, 134934.0009) and 1 rare G370C mutation were also found. Rousseau et al. (1996) noted that all reported missense mutations created cysteine residues and were located in the extracellular domain of the receptor. The findings provided support for the hypothesis that the newly created cysteine residues may allow disulfide bonds to form between the extracellular domains of mutant monomers, thus inducing constitutive activation of the homodimer receptor complex.
Brodie et al. (1999) examined 22 cases of thanatophoric dysplasia variants for the presence of missense mutations in FGFR3. All 17 cases of the San Diego variant (originally called the San Diego form of lethal short-limbed platyspondylic dysplasia) were heterozygous for the same FGFR3 mutations found in TD1; the R248C mutation was present in 7 of the 17 cases. Large inclusion bodies were found in all 14 cases of the San Diego type in which they were sought. Similar inclusion bodies were present in 2 of 72 thanatophoric dysplasia type I cases, but not in 39 controls. The material retained within the rough endoplasmic reticulum stained only with antibody to the FGFR3 protein. No mutations were identified in patients with the Torrance and Luton types of TD (151210). Brodie et al. (1999) suggested that the radiographic and cellular differences between thanatophoric dysplasia and the San Diego variant may be a consequence of other genetic factors, perhaps in the processing of mutant FGFR3 molecules within the rough endoplasmic reticulum. Hall (2002) noted that the San Diego form of platyspondylic lethal skeletal dysplasia (PLSD) described by Horton et al. (1979) had been classified as the same as thanatophoric dysplasia type I.
Genotype/Phenotype Correlations
Wilcox et al. (1998) examined the clinical, radiographic, and histologic findings in 91 cases with FGFR3 mutations from the International Skeletal Dysplasia Registry. The most common mutation was R248C (134934.0005), occurring in 45 (50%) cases, and the second most common mutation was Y373C (134934.0016), occurring in 18 cases (20%). All of these patients had TD1 characterized by curved femora and infrequent cloverleaf skull. All 17 (19%) patients with the K650E mutation (134934.0004) had TD2, characterized by straight femora with craniosynostosis and frequent cloverleaf skull. TD1 patients with the Y373C mutation tended to have more severe radiographic manifestations than TD1 patients with the R248C mutation, but there was phenotypic overlap between them. Histopathologically, all cases shared similar abnormalities, but those with the K650E mutation had better preservation of the growth plate.
Pathogenesis
Horton et al. (1988) delineated the process of abnormal ossification in 15 TD fetuses and infants from whom growth plate cartilage was obtained.
Delezoide et al. (1997) studied 18 thanatophoric dysplasia fetuses for FGFR3 expression in cartilage sections by in situ hybridization and immunohistochemistry. Specific antibodies revealed high amounts of FGFR3 in cartilage of TD fetuses with no increased level of the corresponding mRNA. The specific signal was mainly detected in the nucleus of proliferative and hypertrophic chondrocytes. Based on this observation and the abnormal expression of collagen type X (120110) in hypertrophic thanatophoric dysplasia chondrocytes, Delezoide et al. (1997) suggested that constitutive activation of the receptor through formation of a stable dimer increases its stability and promotes its translocation into the nucleus, where it might interfere with terminal chondrocyte differentiation.
Population Genetics
Camera and Mastroiacovo (1982) identified 13 cases of thanatophoric dysplasia among 217,061 Italian births. All were sporadic. In the same series, there were 8 cases of achondroplasia (100800) and 1 case each of camptomelic dysplasia (114290), Ellis-van Creveld syndrome (225500), Larsen syndrome (150250), and Langer mesomelic dysplasia (249700). Thanatophoric dysplasia was the most frequent skeletal dysplasia.
Connor et al. (1985) identified 43 cases of lethal neonatal short-limb chondrodysplasias in the West of Scotland for the period 1970 to 1983, representing a minimum incidence of 1 in 8,900. TD had an incidence of 1 in 42,221 births. The differential diagnosis included a number of well-delineated skeletal dysplasias: asphyxiating thoracic dysplasia and short-rib polydactyly (see 208500), achondrogenesis type II (200700), metatropic dysplasia (156530), OI congenita (166210), campomelic dysplasia (114290), rhizomelic chondrodysplasia punctata (215100), hypophosphatasia (241500), SED congenita (183900), one case of Warfarin embryopathy, and one apparently 'new' condition with presumed autosomal recessive inheritance (see 273680).
Orioli et al. (1986) estimated the frequency of TD to be approximately 1 in 20,000 births, making it the most common neonatal lethal skeletal dysplasia. In a collaborative study in Spain, Martinez-Frias et al. (1988) identified 13 cases among 517,970 births, an incidence of 2.7 per 100,000 births.
Between 1970 and 1983 in Denmark, Andersen (1989) found 2 cases of thanatophoric dysplasia among 77,977 births, including stillbirths. In addition, there was 1 case of thanatophoric dysplasia with cloverleaf skull.
Using data from 7 population-based birth defects monitoring programs in the United States, Waller et al. (2008) estimated the prevalence of achondroplasia and thanatophoric dysplasia and presented data on the association between older paternal age and these conditions. The prevalence of thanatophoric dysplasia ranged from 0.21 to 0.30 per 10,000 live births (1/33,330-1/47,620 live births). The prevalence of achondroplasia ranged from 0.36 to 0.60 per 10,000 live births (1/27,780-1/16,670 live births). These data suggest that thanatophoric dysplasia is one-third to one-half as frequent as achondroplasia. The differences on the prevalence of these conditions across monitoring programs were consistent with random fluctuation. In Texas, fathers that were 25-29, 30-34, 35-39, and over 40 years of age had significantly increased rates of de novo achondroplasia and thanatophoric dysplasia among their offspring compared with younger fathers.
History
Sabry (1974) reported affected triplets whose parents were first cousins. In reviewing the radiographs, however, Rimoin (1975) concluded that these sibs had achondrogenesis of the Parenti-Fraccaro type (200600). The affected sibs of normal parents, reported by Harris and Patton (1971), were subsequently concluded to have achondrogenesis (Harris et al., 1972). Chemke et al. (1971) and Graff et al. (1972) described thanatophoric dwarfism in 2 male offspring of first-cousin Moroccan Jewish parents. In the second-born affected sib the diagnosis was made antenatally by x-ray. However, after review of the radiographs of one, Rimoin (1975) concluded that this was not thanatophoric dwarfism. (Knowles et al. (1986) and Borochowitz et al. (1986) suggested that the disorder reported by Chemke et al. (1971) and Graff et al. (1972) was the same as the 'new' autosomal recessive dysplasia they described under the designation of Schneckenbecken dysplasia; see 269250.)
INHERITANCE \- Autosomal dominant GROWTH Height \- Dwarfism, lethal micromelic Other \- Severe growth deficiency in survivors HEAD & NECK Head \- Frontal bossing \- Macrocephaly Face \- Small face RESPIRATORY Lung \- Respiratory insufficiency/failure CHEST External Features \- Narrow thorax Ribs Sternum Clavicles & Scapulae \- Wide-cupped costochondral junctions \- Small abnormally formed scapulae \- Short ribs SKELETAL Skull \- Small foramen magnum \- Cloverleaf skull rarely Spine \- Severe platyspondyly Pelvis \- Short and small iliac bones \- Small sacroiliac notches Limbs \- Marked shortness and bowing of long bones \- 'French telephone receiver femurs' \- Flared and irregular metaphyses NEUROLOGIC Central Nervous System \- Temporal lobe heterotopias \- Hydrocephalus \- Profound mental retardation and hypotonia in survivors PRENATAL MANIFESTATIONS \- Prenatal diagnosis by ultrasound Movement \- Decreased fetal activity Amniotic Fluid \- Polyhydramnios MISCELLANEOUS \- Death in majority of infants soon after birth MOLECULAR BASIS \- Caused by mutation in the fibroblast growth factor receptor-3 gene (FGFR3, 134934.0005 ) ▲ 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
|
THANATOPHORIC DYSPLASIA, TYPE I
|
c0039743
| 27,986 |
omim
|
https://www.omim.org/entry/187600
| 2019-09-22T16:32:45 |
{"doid": ["13481"], "mesh": ["D013796"], "omim": ["187600"], "orphanet": ["2655", "1860"], "synonyms": ["Alternative titles", "THANATOPHORIC DYSPLASIA", "THANATOPHORIC DWARFISM", "PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, SAN DIEGO TYPE", "LETHAL SHORT-LIMBED PLATYSPONDYLIC DWARFISM, SAN DIEGO TYPE"], "genereviews": ["NBK1366"]}
|
Keratic precipitate
Keratic precipitate due to Vogt-Koyanagi-Harada Disease
Keratic precipitate (KP) is an inflammatory cellular deposit seen on corneal endothelium. Acute KPs are white and round in shape whereas old KPs are faded and irregular in shape. Mutton-fat KPs are large in shape and are greasy-white in color and are formed from macrophages and epithelioid cells. They are indicative of inflammatory disease.[1] Mutton fat KPs are due to granulomatous iridocyclitis.[2] Another variant called red KPs may be seen in hemorrhagic uveitis.
## References[edit]
1. ^ Brightbill, Frederick S. (2009). Corneal Surgery: Theory, Technique and Tissue. Elsevier Health Sciences. p. 102. ISBN 978-0323048354. Retrieved 11 November 2017.
2. ^ Tandon, Radhika (2014). Parson's Diseases of the Eye - E-Book. Elsevier Health Sciences. p. 616. ISBN 9788131238196. Retrieved 11 November 2017.
This article about the eye 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
|
Keratic precipitate
|
c0423285
| 27,987 |
wikipedia
|
https://en.wikipedia.org/wiki/Keratic_precipitate
| 2021-01-18T18:35:30 |
{"umls": ["C0423285"], "wikidata": ["Q6393581"]}
|
Androgen deprivation-induced senescence (or ADIS) refers to the induction of cellular senescence as a result of androgen deprivation therapy.[1][2][3][4][5] ADIS is observed in prostate cancer cells that are dependent on androgens for cell proliferation. Androgen withdrawal induces cells to undergo cellular senescence by up-regulating intracellular reactive oxygen species (ROS) that cause DNA damage. ADIS is maintained through the up-regulation of the cell cycle regulator p16ink4a.
## References[edit]
1. ^ Pernicová, Z; Slabáková, E; Kharaishvili, G; Bouchal, J; Král, M; Kunická, Z; Machala, M; Kozubík, A; Souček, K (June 2011). "Androgen depletion induces senescence in prostate cancer cells through down-regulation of Skp2". Neoplasia. 13 (6): 526–36. doi:10.1593/neo.11182. PMC 3114246. PMID 21677876.
2. ^ Ewald, JA; Desotelle, JA; Church, DR; Yang, B; Huang, W; Laurila, TA; Jarrard, DF (March 2013). "Androgen deprivation induces senescence characteristics in prostate cancer cells in vitro and in vivo". The Prostate. 73 (4): 337–45. doi:10.1002/pros.22571. PMC 4753826. PMID 22911222.
3. ^ Burton, Dominick G. A.; Giribaldi, Maria G.; Munoz, Anisleidys; Halvorsen, Katherine; Patel, Asmita; Jorda, Merce; Perez-Stable, Carlos; Rai, Priyamvada; Agoulnik, Irina U. (27 June 2013). Agoulnik, Irina U (ed.). "Androgen Deprivation-Induced Senescence Promotes Outgrowth of Androgen-Refractory Prostate Cancer Cells". PLoS ONE. 8 (6): e68003. doi:10.1371/journal.pone.0068003. PMC 3695935. PMID 23840802.
4. ^ Barakat et al (2015). CCAAT/Enhancer binding protein β controls androgen-deprivation-induced senescence in prostate cancer cells Oncogene {{doi:10.1038/onc.2015.41}}
5. ^ Kawata, Hirotoshi; Kamiakito, Tomoko; Nakaya, Takeo; Komatsubara, Maiko; Komatsu, Kenji; Morita, Tatsuo; Nagao, Yasumitsu; Tanaka, Akira (2017). "Stimulation of cellular senescent processes, including secretory phenotypes and anti-oxidant responses, after androgen deprivation therapy in human prostate cancer". The Journal of Steroid Biochemistry and Molecular Biology. 165 (Pt B): 219–227. doi:10.1016/j.jsbmb.2016.06.007. PMID 27329245.
This article about an endocrine, nutritional, or metabolic disease 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
|
Androgen deprivation-induced senescence
|
None
| 27,988 |
wikipedia
|
https://en.wikipedia.org/wiki/Androgen_deprivation-induced_senescence
| 2021-01-18T18:57:11 |
{"wikidata": ["Q16154200"]}
|
Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.
## Epidemiology
So far, about 30 patients have been reported in the literature.
## Clinical description
The facial dysmorphism is considered as characteristic with upsweeping anterior scalp hair, a depressed nasal bridge, hypotonic appearance with an open mouth, a prominent everted upper lip, and mild micrognathia. Agenesis of the corpus callosum, choroid plexus haemangiomas, cleft palate, dextroposition of the heart, interrupted aortic arch, diaphragmatic hernia, visceromegaly including nephromegaly, hepatomegaly, cardiomegaly, thymus hyperplasia, hepatic fibrosis with porto-portal bridging, abdominal muscular hypoplasia, distal ileal atresia, and cryptorchidism were also described in some patients and maybe components of this syndrome. Hyperinsulinism appears to be an important feature of this disease and may be a preventable cause of death.
## Differential diagnosis
The principle differential diagnoses are the Beckwith-Wiedemann (BWS) and Simpson-Golabi-Behmel syndromes (see these terms): mutations the GPC3 gene were excluded as being causative anomalies in several publications and genetic or epigenetic alterations of the 11p15 region (involved in BWS) have never been reported in patients with Perlman syndrome, despite the strong phenotypic similarities between the two syndromes.
## Antenatal diagnosis
Prenatal diagnosis may be oriented by ultrasonography searching for macroglossia and renal anomalies (cysts or hypertrophy).
## Genetic counseling
The syndrome appears to be inherited in an autosomal recessive manner.
## Management and treatment
Management is supportive and should be multidisciplinary.
## Prognosis
The prognosis for Perlman syndrome is poor with a high mortality rate, especially in the neonatal period, due to sepsis or progressive respiratory insufficiency. Among the infants who survived beyond the neonatal period, two thirds developed a Wilms' tumor and most had some degree of developmental delay. However, one girl was reported to be alive at the age of 9 and displayed normal psychomotor 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
|
Perlman syndrome
|
c0796113
| 27,989 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2849
| 2021-01-23T18:18:21 |
{"gard": ["3936"], "mesh": ["C536399"], "omim": ["267000"], "umls": ["C0796113"], "icd-10": ["Q87.3"], "synonyms": ["Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome"]}
|
Spontaneously occurring or inherited disorder that involves mitochondrial dysfunction
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Mitochondrial disease" – news · newspapers · books · scholar · JSTOR (February 2014) (Learn how and when to remove this template message)
Mitochondrial disease
Micrograph showing ragged red fibers, a finding seen in various types of mitochondrial diseases. Muscle biopsy. Gomori trichrome stain.
SpecialtyMedical genetics
Mitochondrial diseases are a group of disorders caused by dysfunctional mitochondria, the organelles that generate energy for the cell. Mitochondria are found in every cell of the human body except red blood cells, and convert the energy of food molecules into the ATP that powers most cell functions.
Mitochondrial diseases take on unique characteristics both because of the way the diseases are often inherited and because mitochondria are so critical to cell function. A subclass of these diseases that have neuromuscular symptoms are sometimes called mitochondrial myopathies.
## Contents
* 1 Signs and symptoms
* 2 Causes
* 2.1 Examples
* 3 Mechanisms
* 4 Diagnosis
* 5 Treatments
* 5.1 Gene therapy prior to conception
* 6 Epidemiology
* 7 History
* 8 Notable cases
* 9 References
* 10 External links
## Signs and symptoms[edit]
Symptoms include:
* poor growth
* loss of muscle coordination
* muscle weakness
* visual problems
* hearing problems
* learning disabilities
* heart disease
* liver disease
* kidney disease
* gastrointestinal disorders
* respiratory disorders
* neurological problems
* autonomic dysfunction
* dementia[1]
Acquired conditions in which mitochondrial dysfunction has been involved are:
* diabetes
* Huntington's disease
* cancer
* Alzheimer's disease
* Parkinson's disease
* bipolar disorder,[2][3][4] schizophrenia, aging and senescence, anxiety disorders[5]
* cardiovascular disease
* sarcopenia
* chronic fatigue syndrome[3]
The body, and each mutation, is modulated by other genome variants; the mutation that in one individual may cause liver disease might in another person cause a brain disorder. The severity of the specific defect may also be great or small. Some defects include exercise intolerance. Defects often affect the operation of the mitochondria and multiple tissues more severely, leading to multi-system diseases.[6]
As a rule, mitochondrial diseases are worse when the defective mitochondria are present in the muscles, cerebrum, or nerves,[7] because these cells use more energy than most other cells in the body.
Although mitochondrial diseases vary greatly in presentation from person to person, several major clinical categories of these conditions have been defined, based on the most common phenotypic features, symptoms, and signs associated with the particular mutations that tend to cause them.[citation needed]
An outstanding question and area of research is whether ATP depletion or reactive oxygen species are in fact responsible for the observed phenotypic consequences.[citation needed]
Cerebellar atrophy or hypoplasia has sometimes been reported to be associated.[8]
## Causes[edit]
Mitochondrial disorders may be caused by mutations (acquired or inherited), in mitochondrial DNA (mtDNA), or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondrial dysfunction due to adverse effects of drugs, infections, or other environmental causes.[9]
Example of a pedigree for a genetic trait inherited by mitochondrial DNA in animals and humans. Offspring of the males with the trait don't inherit the trait. Offspring of the females with the trait always inherit the trait (independently from their own gender).
Nuclear DNA has two copies per cell (except for sperm and egg cells), one copy being inherited from the father and the other from the mother. Mitochondrial DNA, however, is inherited from the mother only (with some exceptions) and each mitochondrial organelle typically contains between 2 and 10 mtDNA copies. During cell division the mitochondria segregate randomly between the two new cells. Those mitochondria make more copies, normally reaching 500 mitochondria per cell. As mtDNA is copied when mitochondria proliferate, they can accumulate random mutations, a phenomenon called heteroplasmy. If only a few of the mtDNA copies inherited from the mother are defective, mitochondrial division may cause most of the defective copies to end up in just one of the new mitochondria (for more detailed inheritance patterns, see human mitochondrial genetics). Mitochondrial disease may become clinically apparent once the number of affected mitochondria reaches a certain level; this phenomenon is called "threshold expression".
Mitochondria possess many of the same DNA repair pathways as nuclei do—but not all of them;[10] therefore, mutations occur more frequently in mitochondrial DNA than in nuclear DNA (see Mutation rate). This means that mitochondrial DNA disorders may occur spontaneously and relatively often. Defects in enzymes that control mitochondrial DNA replication (all of which are encoded for by genes in the nuclear DNA) may also cause mitochondrial DNA mutations.
Most mitochondrial function and biogenesis is controlled by nuclear DNA. Human mitochondrial DNA encodes 13 proteins of the respiratory chain, while most of the estimated 1,500 proteins and components targeted to mitochondria are nuclear-encoded. Defects in nuclear-encoded mitochondrial genes are associated with hundreds of clinical disease phenotypes including anemia, dementia, hypertension, lymphoma, retinopathy, seizures, and neurodevelopmental disorders.[11]
A study by Yale University researchers (published in the February 12, 2004, issue of the New England Journal of Medicine) explored the role of mitochondria in insulin resistance among the offspring of patients with type 2 diabetes.[12] Other studies have shown that the mechanism may involve the interruption of the mitochondrial signaling process in body cells (intramyocellular lipids). A study conducted at the Pennington Biomedical Research Center in Baton Rouge, Louisiana[13] showed that this, in turn, partially disables the genes that produce mitochondria.
### Examples[edit]
Examples of mitochondrial diseases include:
* Mitochondrial myopathy
* Diabetes mellitus and deafness (DAD)
* this combination at an early age can be due to mitochondrial disease
* Diabetes mellitus and deafness can be found together for other reasons
* Leber's hereditary optic neuropathy (LHON)
* visual loss beginning in young adulthood
* eye disorder characterized by progressive loss of central vision due to degeneration of the optic nerves and retina
* affects 1 in 50,000 people in Finland
* Leigh syndrome, subacute sclerosing encephalopathy
* after normal development the disease usually begins late in the first year of life, although onset may occur in adulthood
* a rapid decline in function occurs and is marked by seizures, altered states of consciousness, dementia, ventilatory failure
* Neuropathy, ataxia, retinitis pigmentosa, and ptosis (NARP)
* progressive symptoms as described in the acronym
* dementia
* Myoneurogenic gastrointestinal encephalopathy (MNGIE)
* gastrointestinal pseudo-obstruction
* neuropathy
* Myoclonic Epilepsy with Ragged Red Fibers (MERRF)
* progressive myoclonic epilepsy
* "Ragged Red Fibers" are clumps of diseased mitochondria that accumulate in the subsarcolemmal region of the muscle fiber and appear when muscle is stained with modified Gömöri trichrome stain
* short stature
* hearing loss
* lactic acidosis
* exercise intolerance
* MELAS syndrome
* Mitochondrial DNA depletion syndrome
Conditions such as Friedreich's ataxia can affect the mitochondria but are not associated with mitochondrial proteins.
## Mechanisms[edit]
The effective overall energy unit for the available body energy is referred to as the daily glycogen generation capacity,[14][15][16] and is used to compare the mitochondrial output of healthy individuals to that of afflicted or chronically glycogen-depleted individuals. This value is slow to change in a given individual, as it takes between 18 and 24 months to complete a full cycle.[15]
The glycogen generation capacity is entirely dependent on, and determined by, the operating levels of the mitochondria in all of the cells of the human body;[17] however, the relation between the energy generated by the mitochondria and the glycogen capacity is very loose and is mediated by many biochemical pathways.[14] The energy output of full healthy mitochondrial function can be predicted exactly by a complicated theoretical argument, but this argument is not straightforward, as most energy is consumed by the brain and is not easily measurable.
## Diagnosis[edit]
Mitochondrial diseases are usually detected by analysing muscle samples, where the presence of these organelles is higher. The most common tests for the detection of these diseases are:
1. Southern blot to detect big deletions or duplications
2. Polymerase chain reaction and specific mutation testing
3. Sequencing
## Treatments[edit]
Although research is ongoing, treatment options are currently limited; vitamins are frequently prescribed, though the evidence for their effectiveness is limited.[18] Pyruvate has been proposed in 2007 as a treatment option.[19] N-acetyl cysteine reverses many models of mitochondrial dysfunction.[20] In the case of mood disorders, specifically bipolar disorder, it is hypothesized that N-acetyl-cysteine (NAC), acetyl-L-carnitine (ALCAR), S-adenosylmethionine (SAMe), coenzyme Q10 (CoQ10), alpha-lipoic acid (ALA), creatine monohydrate (CM), and melatonin could be potential treatment options.[21]
### Gene therapy prior to conception[edit]
Spindle transfer, where the nuclear DNA is transferred to another healthy egg cell leaving the defective mitochondrial DNA behind, is a potential treatment procedure that has been successfully carried out on monkeys.[22][23] Using a similar pronuclear transfer technique, researchers at Newcastle University led by Douglass Turnbull successfully transplanted healthy DNA in human eggs from women with mitochondrial disease into the eggs of women donors who were unaffected.[24][25] In such cases, ethical questions have been raised regarding biological motherhood, since the child receives genes and gene regulatory molecules from two different women. Using genetic engineering in attempts to produce babies free of mitochondrial disease is controversial in some circles and raises important ethical issues.[26][27] A male baby was born in Mexico in 2016 from a mother with Leigh syndrome using spindle transfer.[28]
In September 2012 a public consultation was launched in the UK to explore the ethical issues involved.[29] Human genetic engineering was used on a small scale to allow infertile women with genetic defects in their mitochondria to have children.[30] In June 2013, the United Kingdom government agreed to develop legislation that would legalize the 'three-person IVF' procedure as a treatment to fix or eliminate mitochondrial diseases that are passed on from mother to child. The procedure could be offered from 29 October 2015 once regulations had been established.[31][32][33] Embryonic mitochondrial transplant and protofection have been proposed as a possible treatment for inherited mitochondrial disease, and allotopic expression of mitochondrial proteins as a radical treatment for mtDNA mutation load.
In June 2018 Australian Senate's Senate Community Affairs References Committee recommended a move towards legalising Mitochondrial replacement therapy (MRT). Research and clinical applications of MRT were overseen by laws made by federal and state governments. State laws were, for the most part, consistent with federal law. In all states, legislation prohibited the use of MRT techniques in the clinic, and except for Western Australia, research on a limited range of MRT was permissible up to day 14 of embryo development, subject to a license being granted. In 2010, the Hon. Mark Butler MP, then Federal Minister for Mental Health and Ageing, had appointed an independent committee to review the two relevant acts: the Prohibition of Human Cloning for Reproduction Act 2002 and the Research Involving Human Embryos Act 2002. The committee’s report, released in July 2011, recommended the existing legislation remain unchanged
Currently, human clinical trials are underway at GenSight Biologics (ClinicalTrials.gov # NCT02064569) and the University of Miami (ClinicalTrials.gov # NCT02161380) to examine the safety and efficacy of mitochondrial gene therapy in Leber's hereditary optic neuropathy.
## Epidemiology[edit]
About 1 in 4,000 children in the United States will develop mitochondrial disease by the age of 10 years. Up to 4,000 children per year in the US are born with a type of mitochondrial disease.[34] Because mitochondrial disorders contain many variations and subsets, some particular mitochondrial disorders are very rare.
The average number of births per year among women at risk for transmitting mtDNA disease is estimated to approximately 150 in the United Kingdom and 800 in the United States.[35]
## History[edit]
The first pathogenic mutation in mitochondrial DNA was identified in 1988; from that time to 2016, around 275 other disease-causing mutations were identified.[36]:37
## Notable cases[edit]
Notable people who suffered from mitochondrial disease include:
* Mattie Stepanek, a poet, peace advocate, and motivational speaker who suffered from dysautonomic mitochondrial myopathy, and who died at age 13.
* Rocco Baldelli, a coach and former center fielder in Major League Baseball who had to retire from active play at age 29 due to mitochondrial channelopathy.
* Charlie Gard, a British boy who suffered from mitochondrial DNA depletion syndrome; decisions about his care were taken to various law courts.
## References[edit]
1. ^ Nenad Blau; Marinus Duran; K Michael Gibson; Carlo Dionisi Vici (2014-07-08). Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. Springer. pp. 339–. ISBN 978-3-642-40337-8.
2. ^ Stork, C; Renshaw, P F (2005). "Mitochondrial dysfunction in bipolar disorder: Evidence from magnetic resonance spectroscopy research". Molecular Psychiatry. 10 (10): 900–19. doi:10.1038/sj.mp.4001711. PMID 16027739.
3. ^ a b Pieczenik, Steve R; Neustadt, John (2007). "Mitochondrial dysfunction and molecular pathways of disease". Experimental and Molecular Pathology. 83 (1): 84–92. doi:10.1016/j.yexmp.2006.09.008. PMID 17239370.
4. ^ Nierenberg, Andrew A; Kansky, Christine; Brennan, Brian P; Shelton, Richard C; Perlis, Roy; Iosifescu, Dan V (2012). "Mitochondrial modulators for bipolar disorder: A pathophysiologically informed paradigm for new drug development". Australian & New Zealand Journal of Psychiatry. 47 (1): 26–42. doi:10.1177/0004867412449303. PMID 22711881.
5. ^ Misiewicz, Zuzanna; Iurato, Stella; Kulesskaya, Natalia; Salminen, Laura; Rodrigues, Luis; Maccarrone, Giuseppina; Martins, Jade; Czamara, Darina; Laine, Mikaela A.; Sokolowska, Ewa; Trontti, Kalevi; Rewerts, Christiane; Novak, Bozidar; Volk, Naama; Park, Dong Ik; Jokitalo, Eija; Paulin, Lars; Auvinen, Petri; Voikar, Vootele; Chen, Alon; Erhardt, Angelika; Turck, Christoph W.; Hovatta, Iiris (2019-09-26). "Multi-omics analysis identifies mitochondrial pathways associated with anxiety-related behavior". PLOS Genetics. 15 (9): e1008358. doi:10.1371/journal.pgen.1008358. ISSN 1553-7404. PMC 6762065. PMID 31557158.
6. ^ Nunnari J, Suomalainen A (2012). "Mitochondria: in sickness and in health". Cell. 148 (6): 1145–59. doi:10.1016/j.cell.2012.02.035. PMC 5381524. PMID 22424226.
7. ^ Finsterer, Josef (2007). "Hematological Manifestations of Primary Mitochondrial Disorders". Acta Haematologica. 118 (2): 88–98. doi:10.1159/000105676. PMID 17637511.
8. ^ Lax, Nichola Zoe; Hepplewhite, Philippa Denis; Reeve, Amy Katherine; Nesbitt, Victoria; McFarland, Robert; Jaros, Evelyn; Taylor, Robert William; Turnbull, Douglass Matthew (2012). "Cerebellar Ataxia in Patients with Mitochondrial DNA Disease". Journal of Neuropathology & Experimental Neurology. 71 (2): 148–61. doi:10.1097/NEN.0b013e318244477d. PMC 3272439. PMID 22249460.
9. ^ "Mitochondrial diseases". MeSH. Retrieved 2 August 2019.
10. ^ Alexeyev M, Shokolenko I, Wilson G, LeDoux S (May 2013). "The maintenance of mitochondrial DNA integrity--critical analysis and update". Cold Spring Harbor Perspectives in Biology. 5 (5): a012641. doi:10.1101/cshperspect.a012641. PMC 3632056. PMID 23637283.
11. ^ Scharfe C, Lu HH, Neuenburg JK, Allen EA, Li GC, Klopstock T, Cowan TM, Enns GM, Davis RW (2009). Rzhetsky A (ed.). "Mapping gene associations in human mitochondria using clinical disease phenotypes". PLOS Comput Biol. 5 (4): e1000374. Bibcode:2009PLSCB...5E0374S. doi:10.1371/journal.pcbi.1000374. PMC 2668170. PMID 19390613.
12. ^ Petersen, Kitt Falk; Dufour, Sylvie; Befroy, Douglas; Garcia, Rina; Shulman, Gerald I. (2004). "Impaired Mitochondrial Activity in the Insulin-Resistant Offspring of Patients with Type 2 Diabetes". New England Journal of Medicine. 350 (7): 664–671. doi:10.1056/NEJMoa031314. ISSN 0028-4793. PMC 2995502. PMID 14960743.
13. ^ Diabetes 54, 2005 1926-33
14. ^ a b Mitchell, Peter. "David Keilin's respiratory chain concept and its chemiosmotic consequences" (PDF). Nobel institute.
15. ^ a b Michelakis, Evangelos (January 2007). "A Mitochondria-K+ Channel Axis Is Suppressed in Cancer and Its Normalization Promotes Apoptosis and Inhibits Cancer Growth". University of Alberta. University of Alberta, 2007. 11 (1): 37–51. doi:10.1016/j.ccr.2006.10.020. PMID 17222789.
16. ^ Lorini & Ciman, M, & M (1962). "Hypoglycaemic action of Diisopropylammonium salts in experimental diabetes". Institute of Biochemistry, University of Padua, September 1962. Biochemical Pharmacology. 11 (9): 823–827. doi:10.1016/0006-2952(62)90177-6. PMID 14466716.
17. ^ Stacpoole PW, Henderson GN, Yan Z, James MO (1998). "Clinical pharmacology and toxicology of dichloroacetate". Environ. Health Perspect. 106 Suppl 4: 989–94. doi:10.1289/ehp.98106s4989. PMC 1533324. PMID 9703483.
18. ^ Marriage B, Clandinin MT, Glerum DM (2003). "Nutritional cofactor treatment in mitochondrial disorders". J Am Diet Assoc. 103 (8): 1029–38. doi:10.1016/S0002-8223(03)00476-0. PMID 12891154.
19. ^ Tanaka M, Nishigaki Y, Fuku N, Ibi T, Sahashi K, Koga Y (2007). "Therapeutic potential of pyruvate therapy for mitochondrial diseases". Mitochondrion. 7 (6): 399–401. doi:10.1016/j.mito.2007.07.002. PMID 17881297.
20. ^ Frantz MC, Wipf P (Jun 2010). "Mitochondria as a target in treatment". Environ Mol Mutagen. 51 (5): 462–75. doi:10.1002/em.20554. PMC 2920596. PMID 20175113.
21. ^ Nierenberg, Andrew A, Kansky, Christine, Brennan, Brian P, Shelton, Richard C, Perlis, Roy, Iosifescu, Dan V (2012). "Mitochondrial modulators for bipolar disorder: A pathophysiologically informed paradigm for new drug development". Australian & New Zealand Journal of Psychiatry. 47 (1): 26–42. doi:10.1177/0004867412449303. PMID 22711881.
22. ^ Genetic advance raises IVF hopes By Pallab Ghosh. BBC News, science correspondent. Page last updated at 17:04 GMT, Wednesday, 26 August 2009 18:04 UK
23. ^ Tachibana M, Sparman M, Sritanaudomchai H, Ma H, Clepper L, Woodward J, Li Y, Ramsey C, Kolotushkina O, Mitalipov S (September 2009). "Mitochondrial gene replacement in primate offspring and embryonic stem cells". Nature. 461 (7262): 367–372. Bibcode:2009Natur.461..367T. doi:10.1038/nature08368. PMC 2774772. PMID 19710649.
24. ^ Boseley, Sarah (2010-04-14). "Scientists reveal gene-swapping technique to thwart inherited diseases". Guardian. London.
25. ^ Craven, Lyndsey; Tuppen, Helen A.; Greggains, Gareth D.; Harbottle, Stephen J.; Murphy, Julie L.; Cree, Lynsey M.; Murdoch, Alison P.; Chinnery, Patrick F.; Taylor, Robert W.; Lightowlers, Robert N.; Herbert, Mary; Turnbull, Douglass M. (2010). "Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease". Nature. 465 (7294): 82–85. Bibcode:2010Natur.465...82C. doi:10.1038/nature08958. PMC 2875160. PMID 20393463.
26. ^ "UK urged to permit IVF procedure to prevent fatal genetic diseases". The Guardian. London. 2015-04-30.
27. ^ "Three parent baby law is 'irresponsible' says Church of England ahead of vote". The Telegraph. London. 2015-04-30.
28. ^ Hamzelou, Jessica (2016-09-27). "Exclusive: World's first baby born with new "3 parent" technique". New Scientist. Retrieved 2016-11-26.
29. ^ Sample, Ian (2012-09-17). "Regulator to consult public over plans for new fertility treatments". The Guardian. London. Retrieved 8 October 2012.
30. ^ "Genetically altered babies born". BBC News. 2001-05-04. Retrieved 2008-04-26.
31. ^ The Human Fertilisation and Embryology (Mitochondrial Donation) Regulations 2015 No. 572
32. ^ "UK government backs three-person IVF". BBC News. 27 June 2013.
33. ^ Knapton, Sarah (1 March 2014) 'Three-parent babies' could be born in Britain next year The Daily Telegraph Science News, Retrieved 1 March 2014
34. ^ The Mitochondrial and Metabolic Disease Center
35. ^ Gorman, Gráinne S.; Grady, John P.; Ng, Yi; Schaefer, Andrew M.; McNally, Richard J.; Chinnery, Patrick F.; Yu-Wai-Man, Patrick; Herbert, Mary; Taylor, Robert W.; McFarland, Robert; Turnbull, Doug M. (2015). "Mitochondrial Donation — How Many Women Could Benefit?". New England Journal of Medicine. 372 (9): 885–887. doi:10.1056/NEJMc1500960. ISSN 0028-4793. PMC 4481295. PMID 25629662.
36. ^ Committee on the Ethical and Social Policy Considerations of Novel Techniques for Prevention of Maternal Transmission of Mitochondrial DNA Diseases; Board on Health Sciences Policy; Institute of Medicine (2016). Claiborne, Anne; English, Rebecca; Kahn, Jeffrey (eds.). Mitochondrial Replacement Techniques: Ethical, Social, and Policy Considerations. National Academies Press. ISBN 978-0-309-38870-2. Index page with links to summaries including one page summary flyer.
## External links[edit]
Classification
D
* ICD-9-CM: 277.87
* MeSH: D028361
* DiseasesDB: 28840
* SNOMED CT: 240096000
External resources
* Orphanet: 68380
Wikimedia Commons has media related to Mitochondrial diseases.
* Mitochondrial disease at Curlie
* International Mito Patients (IMP)
*[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 disease
|
c0751651
| 27,990 |
wikipedia
|
https://en.wikipedia.org/wiki/Mitochondrial_disease
| 2021-01-18T18:38:33 |
{"gard": ["7048"], "mesh": ["D028361"], "umls": ["C0751651"], "icd-9": ["277.87"], "orphanet": ["68380"], "wikidata": ["Q935710"]}
|
A number sign (#) is used with this entry because of evidence that Duane retraction syndrome-2 (DURS2) is caused by heterozygous mutation in the CHN1 gene (118423) on chromosome 2q31.
Description
Duane retraction syndrome (DURS) is a congenital disorder characterized by restricted horizontal eye movement with globe retraction and palpebral fissure narrowing on attempted adduction. DURS is observed in approximately 0.1% of the general population, accounts for 1 to 5% of all strabismus, and if untreated in childhood can result in loss of binocular vision and amblyopia. Postmortem examinations of individuals with sporadic DURS have shown absence of the abducens motor neurons and abducens cranial nerve on the affected side(s), and aberrant innervation of the lateral rectus by axons of the oculomotor nerve that normally innervate the medial rectus muscle. Most patients are affected unilaterally and have no family history of the disorder (summary by Miyake et al., 2010).
For a discussion of genetic heterogeneity of Duane retraction syndrome, see DURS1 (126800).
Clinical Features
Appukuttan et al. (1999) reported a large 4-generation Mexican family in which 25 living members were affected with Duane anomaly transmitted in an autosomal dominant pattern. Chung et al. (2000) studied 110 of the family members and examined the 25 patients in detail. None of the unaffected family members had evidence of neurologic abnormalities. All but 1 of the 25 patients had bilateral Duane anomaly of type 1 or type 3, and there was a high prevalence of manifest strabismus (76%) and amblyopia (48%). In 1 family subgroup, 3 patients had a unilateral fourth cranial nerve palsy. Other ophthalmic and neurologic abnormalities included unilateral congenital ptosis, upper eyelid retraction with downgaze, unilateral congenital deafness, nystagmus, and seizures, each observed in 1 patient. None of the patients had visible external ear or facial anomalies.
Evans et al. (2000) described a 4-generation family in the United Kingdom with autosomal dominant transmission of isolated bilateral Duane syndrome. Of 9 affected family members, 5 cases were type 1 bilaterally, 2 cases were type 3 bilaterally, and 2 cases were type 1 in the right eye and type 3 in the left eye. Eight cases had a primary position esotropia, and there was a vertical eye movement abnormality in 8 cases, 5 with a 'V' configuration and 3 with an 'A' configuration.
Demer et al. (2007) used high-resolution, multipositional MRI in a study of 5 male and 3 female affected members of 2 families with autosomal dominant Duane retraction syndrome mapping to chromosome 2. All patients had unilateral or bilateral limitation of abduction, or of both abduction and adduction, with palpebral fissure narrowing and globe retraction in adduction. Orbital motor nerves were typically small, with the abducens nerve (cranial nerve 6; CN6) often nondetectable. Lateral rectus muscles were structurally abnormal in 7 patients, with structural and motility evidence of oculomotor nerve (CN3) innervation from vertical rectus extraocular muscles (EOM) leading to A or V patterns of strabismus in 3 cases. Four cases had superior oblique, 2 cases superior rectus, and 2 cases levator EOM hypoplasia. Only the medial and inferior rectus and inferior oblique EOMs were spared. Two cases had small CN3s. Demer et al. (2007) concluded that DURS2 is a diffuse congenital cranial dysinnervation disorder involving but not limited to CN6.
Miyake et al. (2011) reported 5 family members with distinctive ocular dysmotility patterns that cosegregated with a novel hyperactivating CHN1 mutation. All 5 clinically affected family members exhibited monocular or binocular supraduction deficits, 3 in the absence of DURS2. MRI in 4 affected individuals demonstrated small or absent abducens nerves in all 4, small oculomotor nerve in 1, and small optic nerves in 3. Superior oblique muscle volume was also decreased in 3 of the individuals, supporting trochlear nerve hypoplasia. Miyake et al. (2011) concluded that their analysis of this pedigree expanded the phenotypic spectrum of hyperactivating CHN1 mutations to include vertical strabismus and supraduction deficits in the absence of Duane retraction syndrome.
Mapping
In a large 4-generation Mexican family with autosomal dominant Duane retraction syndrome, Appukuttan et al. (1999) demonstrated linkage to 2q31 (maximum lod score = 11.73 at theta = 0.0 for D2S2314). Haplotype analysis placed the affected gene in a 17.8-cM region. No recombinants were seen with markers between these 2 loci. The linked region contains the homeobox D gene cluster (see HOXD1; 142987).
In a 4-generation family with Duane syndrome in the U.K., Evans et al. (2000) demonstrated linkage to an interval of 8.8-cM on 2q31.
In 2 additional families with Duane retraction syndrome, one Hispanic and the other Caucasian, Engle et al. (2007) demonstrated linkage of the disorder within the same 8.8-cM interval, with maximum lod scores of 2.1 and 2.3 at D2S2314, respectively.
Miyake et al. (2008) further analyzed the recombination events that defined the DURS2 critical region (Appukuttan et al., 1999; Evans et al., 2000), reducing it from 9.9 to 4.6 Mb.
Molecular Genetics
In 4 large families with Duane retraction syndrome mapping to chromosome 2q, previously reported by Appukuttan et al. (1999), Evans et al. (2000), and Engle et al. (2007), Miyake et al. (2008) screened 22 candidate genes and identified heterozygous missense changes in the CHN1 gene (118423.0001-118423.0004), which encodes 2 Rac-specific guanosine triphosphatase (GTPase)-activating alpha-chimerin isoforms. Analysis of CHN1 in 16 smaller DURS pedigrees revealed heterozygous mutations in 3 additional families (118423.0004-118423.0007). All 7 nucleotide substitutions cosegregated with the affected haplotypes. None were present in online SNP databases or on 788 control chromosomes. Five of the 7 resulted in nonconservative amino acid substitutions. All were predicted to alter amino acids that are conserved in 8 different species.
Miyake et al. (2010) screened the CHN1 gene in 140 sporadic patients with Duane retraction syndrome but did not detect any mutations, in contrast to the 35% detection rate of CHN1 mutation in familial DURS (7 of 20 pedigrees) found by Miyake et al. (2008). Miyake et al. (2010) concluded that CHN1 mutations are not a major cause of DURS among patients with sporadic disease.
In 2 families segregating Duane retraction syndrome, Chan et al. (2011) identified heterozygous gain-of-function mutations in the CHN1 gene (118423.0008-118423.0009).
Animal Model
To test the hypothesis that overexpression of alpha-2-chimerin may result in aberrant axon development in vivo, Miyake et al. (2008) used the chick in ovo system to overexpress alpha-2-chimerin in the embryonic oculomotor nucleus. In the majority (71-87%) of embryos overexpressing wildtype or mutant constructs, the oculomotor nerve stalled and its axons terminated prematurely adjacent to the dorsal rectus muscle.
*[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
|
DUANE RETRACTION SYNDROME 2
|
c0013261
| 27,991 |
omim
|
https://www.omim.org/entry/604356
| 2019-09-22T16:12:07 |
{"doid": ["12557"], "mesh": ["D004370"], "omim": ["604356"], "orphanet": ["233"], "genereviews": ["NBK1190"]}
|
Eye neoplasm
Melanotic sarcoma through the conjunctiva and sclerotic along the lower border of the cornea.
SpecialtyOncology
Eye neoplasms can affect all parts of the eye, and can be a benign tumor or a malignant tumor (cancer). Eye cancers can be primary (starts within the eye) or metastatic cancer (spread to the eye from another organ). The two most common cancers that spread to the eye from another organ are breast cancer and lung cancer. Other less common sites of origin include the prostate, kidney, thyroid, skin, colon and blood or bone marrow.
## Contents
* 1 Types
* 1.1 Malignant
* 1.1.1 Adults
* 1.1.2 Children
* 1.2 Benign
* 2 Signs and symptoms
* 3 Diagnosis
* 3.1 Classification
* 3.1.1 Choroidal tumors
* 3.1.2 Conjunctival tumors
* 4 Treatment
* 5 Ocular oncology
* 6 References
* 7 Further reading
* 8 External links
## Types[edit]
Tumors in the eye and orbit can be benign like dermoid cysts, or malignant like rhabdomyosarcoma and retinoblastoma.
### Malignant[edit]
The most common eyelid tumor is called basal cell carcinoma. This tumor can grow around the eye but rarely spreads to other parts of the body. Other types of common eyelid cancers include squamous carcinoma, sebaceous carcinoma and malignant melanoma. The most common orbital malignancy is orbital lymphoma. This tumor can be diagnosed by biopsy with histopathologic and immunohistochemical analysis. Most patients with orbital lymphoma can be offered chemotherapy or radiation therapy.
#### Adults[edit]
* The most common malignant primary intraocular tumor in adults is uveal melanoma. These tumors can occur in the choroid, iris and ciliary body. The latter are sometimes called iris or ciliary body melanoma.
* The next most common is primary intraocular lymphoma (PIOL) which is usually non-Hodgkin’s, large cell lymphoma of the B-cell type, although T cell lymphomas have also been described.
#### Children[edit]
* The most common malignant intraocular tumor in children is retinoblastoma, affecting approximately 325 children per year in North America. Early detection has allowed for cures exceeding 95%.[1]
* The second most common is medulloepithelioma (also called diktyoma) which can occur in the ciliary body and the uvea of the eye.
### Benign[edit]
Orbital dermoid cysts are benign choristomas which are typically found at the junction of sutures, most commonly at the fronto-zygomatic suture. Large deep orbital dermoid cysts can cause pressure effects on the muscles and optic nerve, leading to diplopia and loss of vision.
## Signs and symptoms[edit]
This section does not cite any sources. Please help improve this section by adding citations to reliable sources. Unsourced material may be challenged and removed. (September 2017) (Learn how and when to remove this template message)
* Melanomas (choroidal, ciliary body and uveal) - In the early stages there may be no symptoms (the person does not know there is a tumor until an ophthalmologist or optometrist looks into the eye with an ophthalmoscope during a routine test). As the tumor grows, symptoms can be blurred vision, decreased vision, double vision, eventual vision loss and if they continue to grow the tumor can break past the retina causing retinal detachment. Sometimes the tumor can be visible through the pupil.
* A nevus is a benign, freckle in the eye. These should be checked out and regular checks on the eye done to ensure it has not turned into a melanoma.
* Iris and conjuctival tumors (melanomas) - Present as a dark spot. Any spot which continues to grow on the iris and the conjunctiva should be checked out.
* Retinoblastoma - Strabismus (crossed eyes), a whitish or yellowish glow through the pupil, decreasing/loss of vision, sometimes the eye may be red and painful. Retinoblastoma can occur in one or both eyes. This tumor occurs in babies and young children. It is called RB for short. Check photographs, normal healthy eyes would have the red eye reflex, but a white/yellow dot instead of the red eye reflex can indicate a tumor or some other kind of eye disease. Any photos of a child/children which have a white/yellow dot instead of the red eye reflex should be evaluated by an eye doctor.
## Diagnosis[edit]
### Classification[edit]
#### Choroidal tumors[edit]
* Choroidal hemangioma[2]
* Choroidal melanoma[3]
* Choroidal metastasis[4]
* Choroidal nevus[5]
* Choroidal osteoma[6]
* Ciliary body melanoma[7]
* The nevus of Ota[8]
#### Conjunctival tumors[edit]
Advanced conjunctival carcinoma protruding through the palpebral fissure.
* Conjunctival Kaposi's sarcoma[9]
* Epibulbar dermoid[10]
* Malignant conjunctival tumors[11]
* Lymphoma of the conjunctiva[12]
* Melanoma and PAM with atypia[13]
* Pigmented conjunctival tumors[14]
* Pingueculum[15]
* Pterygium[16]
* Squamous carcinoma and intraepithelial neoplasia of the conjunctiva[17]
## Treatment[edit]
* Laser therapy
* Plaque therapy
* Radiotherapy \- The ophthalmologist decides in conjunction with the radiation oncologist which type of radiation therapy is most suitable, based on size and location of the tumour. Today, modern radiation treatment modalities, such as proton therapy, are likely to be chosen, for providing superior accuracy in dose delivery, helping to spare healthy tissue and the sensitive optic nerves.[18]
* Enucleation of the Eye \- Removal of the eye, but the muscles and eyelids are left intact. An implant is inserted, then the person wears a conformer shield and later the person will have their prosthesis made and fitted (the prosthesis is made by someone called an ocularist and is made to look like their real eye)
* Evisceration \- Removal of the eye contents, leaving the sclera or the white part of the eye.
* Exenteration \- Removal of the eye, all orbital contents, which can involve the eyelids as well. A special prosthesis is made to cover the defect and improve appearance.
* Iridectomy \- Removal of the affected piece of the iris
* Choroidectomy \- Removal of the choroid layer (the vascular tissue sandwiched between the sclera and the retina)
* Iridocyclectomy \- Removal of the iris plus the ciliary body muscle.
* Eyewall resection \- Cutting into the eye to remove a tumor e.g. melanoma. This operation can be quite difficult to perform.
* Chemotherapy
## Ocular oncology[edit]
Ocular oncology is the branch of medicine dealing with tumors relating to the eye and its adnexa.
Ocular oncology takes into consideration that the primary requirement for patients is preservation of life by removal of the tumor, along with best efforts directed at preservation of useful vision, followed by cosmetic appearance. The treatment of ocular tumors is generally a multi-specialty effort, requiring coordination between the ophthalmologist, medical oncologist, radiation specialist, head & neck surgeon/ENT surgeon, pediatrician/internal medicine/hospitalist and a multidisciplinary team of support staff and nurses.
## References[edit]
1. ^ Kim JW, Abramson DH, Dunkel IJ (2007). "Current management strategies for intraocular retinoblastoma". Drugs. 67 (15): 2173–2185. doi:10.2165/00003495-200767150-00005. PMID 17927283.
2. ^ "Choroidal Hemangioma - The Eye Cancer Network". Archived from the original on 2010-07-04. Retrieved 2010-03-10.
3. ^ "Choroidal Melanoma - The Eye Cancer Network". Archived from the original on 2010-04-21. Retrieved 2010-03-10.
4. ^ "Choroidal Metastasis - The Eye Cancer Network". Archived from the original on 2010-09-29. Retrieved 2010-03-10.
5. ^ "Choroidal Nevus - The Eye Cancer Network". Archived from the original on 2009-10-09. Retrieved 2010-03-10.
6. ^ "Choroidal Osteoma - The Eye Cancer Network". Archived from the original on 2009-12-20. Retrieved 2010-03-10.
7. ^ "Ciliary Body Melanoma - The Eye Cancer Network". Archived from the original on 2009-08-20. Retrieved 2010-03-10.
8. ^ "The Nevus of Ota - The Eye Cancer Network". Archived from the original on 2009-08-20. Retrieved 2010-03-10.
9. ^ "Conjunctival Kaposi's Sarcoma - The Eye Cancer Network". Archived from the original on 2010-11-24. Retrieved 2010-03-10.
10. ^ "Epibulbar Dermoid - The Eye Cancer Network". Archived from the original on 2010-03-02. Retrieved 2010-03-10.
11. ^ "General Information: Malignant Conjunctival Tumors - The Eye Cancer Network". Archived from the original on 2010-11-24. Retrieved 2010-03-10.
12. ^ "Lymphoma of the Conjunctiva - The Eye Cancer Network". Archived from the original on 2009-08-20. Retrieved 2010-03-10.
13. ^ "Melanoma and PAM with Atypia - The Eye Cancer Network". Archived from the original on 2009-08-20. Retrieved 2010-03-10.
14. ^ "Pigmented Conjunctival Tumors - The Eye Cancer Network". Archived from the original on 2009-08-20. Retrieved 2010-03-10.
15. ^ "Pingueculum - The Eye Cancer Network". Archived from the original on 2009-08-20. Retrieved 2010-03-10.
16. ^ "Pterygium - The Eye Cancer Network". Archived from the original on 2009-08-20. Retrieved 2010-03-10.
17. ^ "Squamous Carcinoma and Intraepithelial Neoplasia of the Conjunctiva - The Eye Cancer Network". Archived from the original on 2009-08-20. Retrieved 2010-03-10.
18. ^ Boris Peter Selby, et al. (2007) Pose estimation of eyes for particle beam treatment of tumors. In: Medical Image Processing 2007. Algorithms - Systems - Applications; Springer Press Berlin, Heidelberg
## Further reading[edit]
* William Charles Caccamise Sr. "A photographic cache of eyelid and conjunctival malignant lesions". EyeRounds.org. Archived from the original on 2006-08-29. Retrieved 2006-10-11.
## External links[edit]
Classification
D
* ICD-10: C69
* ICD-9-CM: 190
* MeSH: D005134
* Eye Cancer - Medline Plus
* Ocular Oncology - Bascom Palmer Eye Institute
* DeAngelis, D; Hurwitz, J. "Lacrimal Gland Tumors." eMedicine.com. June 8, 2005.
* v
* t
* e
Eye neoplasm
Melanoma
* Uveal melanoma
* Ciliary body melanoma
Other
* Medulloepithelioma/Diktyoma
* Intraocular lymphoma
* Orbital lymphoma
* Optic nerve sheath meningioma
* Optic nerve tumor
* Retinoblastoma
* Schwannoma
* Visual pathway glioma
*[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
|
Eye neoplasm
|
c0496836
| 27,992 |
wikipedia
|
https://en.wikipedia.org/wiki/Eye_neoplasm
| 2021-01-18T18:47:04 |
{"mesh": ["D005134"], "umls": ["C0496836"], "icd-10": ["C69"], "wikidata": ["Q2420648"]}
|
A number sign (#) is used with this entry because of evidence that steatocystoma multiplex is caused by heterozygous mutation in the keratin-17 gene (KRT17; 148069) on chromosome 17q21.
Mutation in the KRT17 gene has also been found as the cause of pachyonychia congenita-2 (PC2; 167210).
Also see steatocystoma multiplex with natal teeth (184510), which may be a separate disorder.
Clinical Features
In typical cases the patient may exhibit 100 to 2,000 round or oval cystic tumors widely distributed on the back, anterior trunk, arms, scrotum, and thighs. Noojin and Reynolds (1948) observed 12 cases in 3 generations.
Sebaceous cysts presenting mainly as wens of the scalp were reported by Stephens (1959) in a large number of individuals in 5 generations in a dominant pedigree pattern.
Bushkell and Gorlin (1975) found leukonychia totalis (151600), multiple sebaceous cysts, and renal calculi in grandfather, father and son, and some of these features in 2 other relatives. Koilonychia (149300) was also found in 3 of the affected persons.
Malignant degeneration of a cyst in a steatocystoma case was reported by Harper and Davis (1971).
Cuccia-Belvedere et al. (1989) studied steatocystoma multiplex in 13 persons in 2 unrelated Italian families.
Clinical Management
Pamoukian and Westreich (1997) described their experiences in the treatment of 7 members of a family of Jewish Turkish origin over a period of 17 years. Steatocystoma multiplex congenita, especially the cysts in exposed areas of the body, created serious self-image problems. Because of the number of cysts and their fragility, standard cyst excision techniques were impractical and difficult. They described a modified excision method that yielded good results. Their method consisted of making a stab incision into the cyst and manually evacuating its contents. Thereafter, a fine mosquito hemostat was inserted to grasp the cyst wall from within and strip out its lining. At one sitting, 50 to 150 cysts could be removed. Excisions were performed once or twice a year.
Molecular Genetics
Smith et al. (1997) described mutations in the KRT17 gene in 2 families diagnosed with steatocystoma multiplex. On reevaluation, mild changes in the nails were found in some but not all members of these 2 families, compatible with pachyonychia congenita, and some members had mild focal nonepidermolytic palmoplantar keratoderma. There was no history in either family of natal teeth. Smith et al. (1997) suggested that the disorder in these families was a variant of PC2.
INHERITANCE \- Autosomal dominant HEAD & NECK Teeth \- No natal teeth SKIN, NAILS, & HAIR Skin \- Steatocystoma multiplex \- Multiple, asymptomatic dermal cysts (trunk, proximal extremities, neck, axillae, inguinal region, scalp) MISCELLANEOUS \- Onset in adolescence to early adulthood \- Allelic to pachyonychia congenita Jackson-Lawler type ( 167210 ) MOLECULAR BASIS \- Caused by mutation in the keratin 17 gene (KRT17, 148069.0004 ) ▲ 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
|
STEATOCYSTOMA MULTIPLEX
|
c0259771
| 27,993 |
omim
|
https://www.omim.org/entry/184500
| 2019-09-22T16:34:19 |
{"mesh": ["D062685"], "omim": ["184500"], "icd-10": ["L72.2"], "orphanet": ["841"], "synonyms": ["Alternative titles", "SEBACEOUS CYSTS, MULTIPLE"]}
|
## Description
Neonatal hemochromatosis (NH) is characterized by hepatic failure in the newborn period and heavy iron staining in the liver. In addition, there is marked siderosis of extrahepatic tissues, including the heart and pancreas (Driscoll et al., 1988).
Whitington (2007) postulated that some cases of neonatal hemochromatosis result from maternal alloimmunity directed at the fetal liver, and therefore do not represent an inherited mendelian disorder. Other causes may result from metabolic disease or perinatal infection. In particular, he commented that the disorder is not related to the family of inherited liver diseases that fall under the classification of hereditary hemochromatosis (see, e.g., 235200). Whitington (2007) proposed the term 'congenital alloimmune hepatitis.'
In the past, the disorder has loosely been labeled 'neonatal hepatitis' and 'giant cell hepatitis,' which are pathologic findings in the liver representing a common response to a variety of insults, including cholestatic disorders and infection, among others (Fawaz et al., 1975; Knisely et al., 1987; Kelly et al., 2001).
Clinical Features
Knisely et al. (1987) reviewed reported cases of neonatal hemochromatosis, applying rigid criteria as follows: a rapidly progressive clinical course with death in utero or in the early neonatal period; increased tissue iron deposition in multiple sites, particularly in the liver, pancreas, heart, and endocrine glands, with the extrahepatic reticuloendothelial system relatively unaffected; and no evidence for hemolytic disease, syndromes associated with hemosiderosis, or exogenous iron overload from transfusions. Both parents of 1 patient reported by Knisely et al. (1987) had high levels of serum iron and total iron-binding capacity. Knisely et al. (1987) concluded that the available data argued against the suggestion that neonatal hemochromatosis is caused by primary placental hyperabsorption of iron. A bleeding diathesis is often observed. The authors suggested that neonatal hemochromatosis is one of several entities causing the heterogeneous category of disorders often termed giant cell hepatitis, because of pathologic liver findings.
Driscoll et al. (1988) reported 4 cases of NH in 2 families. All patients presented at birth, and the clinical course was characterized by hypoglycemia, hemorrhagic diathesis, and fatal renal and hepatic failure. Postmortem examination showed hepatic fibrosis with a distinctive pattern of iron distribution in the hepatocytes, pancreatic acinar cells, and myocardium. In 1 family, both parents had normal levels of serum iron, iron binding capacity, transferrin, and ferritin levels, but had persistently abnormal liver function tests, which the authors suggested was consistent with mild expressivity of a heterozygous state. In that same family, neither parent nor their 1 infant had the HLA types associated with hereditary hemochromatosis (235200). Driscoll et al. (1988) concluded that NH is an autosomal recessive disorder, and postulated that the combination of expressed maternal heterozygosity and fetal homozygosity produced enhanced iron transport across the placenta, resulting in a marked increase in iron deposition in certain fetal tissues. The authors noted that the clinical course and pathologic findings are distinct from those of Zellweger syndrome (see 214100), hereditary tyrosinemia (276700), and leprechaunism (246200), in which hepatic siderosis is also seen.
Dalhoj et al. (1990) provided a 30-year follow-up of a Danish family reported by Kler and Olesen (1956) in which 6 of 9 sibs had died in utero or neonatally as a result of this disorder. No evidence of hereditary hemochromatosis or other iron storage disease was found in the parents or surviving sibs. Neonatal hemochromatosis also occurs as part of the neonatal lupus erythematosus syndrome, associated with maternal anti-Ro/SS-A (109092) and anti-Ro/SS-B (109090) autoantibodies.
Moerman et al. (1990) reported 4 cases of neonatal hemochromatosis presenting as fulminant hepatic failure. Postmortem examination showed excessive iron deposition in hepatocytes, diffuse hepatic cirrhosis, hepatocellular necrosis, cholestasis, and giant cell transformation. No hemosiderin was detected in the extrahepatic mononuclear-phagocytic cells of the spleen, lymph nodes, or bone marrow. Fetal liver disease had its onset in the late second trimester of pregnancy and was reflected by severe panhypoproteinemia with non-immune hydrops. Hyperbilirubinemia and hemorrhagic diatheses were apparent in the newborns.
Kelly et al. (2001) reported 40 infants with neonatal hemochromatosis from 27 families. The most common presenting features were jaundice, hypoglycemia, and hepatic failure. Laboratory studies showed high serum ferritin and high transferrin saturation (80-90%). Postmortem examination in several patients showed fibrosis with cirrhosis, giant cell transformation, marked iron deposition in hepatocytes, and hepatocelluar necrosis with cholestasis, as well as extensive iron deposition in the myocardium, pancreatic acinar cells, and renal tubules. Thirty of the patients had died at the time of the report.
Shneider et al. (1994) and Siafakas et al. (1997) reported a total of 5 infants with delta-4-3-oxosteroid 5-beta-reductase deficiency (235555) who also had neonatal hemochromatosis.
In a detailed review of the neonatal hemochromatosis, Whitington (2007) noted that liver disease is generally apparent within hours of birth and is one of the most commonly recognized causes of liver failure in the neonate. In rare cases, the liver disease takes a prolonged course and is manifest days to weeks after birth. Late-second and third trimester fetal loss is also commonly observed in the gestational histories of women who have had a baby with NH. Most affected liveborn babies show evidence of fetal insult, such as intrauterine growth restriction and oligohydramnios, and premature birth is common. The presenting clinical features include hypoglycemia, marked coagulopathy, hypoalbuminemia and edema with or without ascites, oliguria, jaundice, and increased serum conjugated and nonconjugated bilirubin. Pathology shows severe liver injury that is out of proportion to that seen in other forms of hemochromatosis. There is cirrhosis and fibrosis, particularly in the lobule and around the central vein, and coarsely granular siderosis. Regenerative nodules may be present. In some instances, almost no hepatocytes remain. The residual and/or regenerating hepatocytes may exhibit either giant cell or pseudoacinar transformation with canalicular bile plugs. Siderosis may affect any of several tissues outside the liver. The prognosis in severe NH is generally very poor, with an average life expectancy of days to a few weeks. There is a very high risk of recurrence in subsequent offspring of an affected woman.
Inheritance
Fienberg (1960) reported 2 pairs of male sibs with perinatal idiopathic hemochromatosis with giant cell hepatitis, and Laurendeau et al. (1961) observed 2 affected sisters, both reports suggesting autosomal recessive inheritance.
Schoenlebe et al. (1993) reported an experience indicating that neonatal hemochromatosis, also known as perinatal hemochromatosis or neonatal iron storage disease, can occur as part of neonatal lupus erythematosus syndrome (see 152700) associated with maternal anti-Ro/SSA (see 109092) and anti-La/SSB (109090) autoantibodies. They reported a 6-week-old girl with neonatal hemochromatosis whose mother had these autoantibodies associated with Sjogren syndrome (see 270150); an older child had congenital heart block.
Verloes et al. (1996) reported 2 families in which neonatal hemochromatosis was observed in half sibs. In the first family, 2 successive girls were born of different fathers. In a second family, an affected brother and sister were followed by an affected half brother born after donor insemination. These observations, as well as a previous abstract describing 2 affected half sisters, revived a debate over the inheritance of neonatal hemochromatosis and suggested causation by a maternal factor. Verloes et al. (1996) tabulated the reported familial cases of typical NH and noted that parental consanguinity was never mentioned.
Kelly et al. (2001) studied 40 infants from 27 families with neonatal hemochromatosis. Four pedigrees had clear evidence of neonatal hemochromatosis associated with maternal infection, including coxsackievirus, E. coli bacteremia and candidiasis, Staphylococcus aureus, and Herpes simplex virus and candidiasis. One pedigree showed transmission of maternal antinuclear factor and ribonucleoprotein antibodies to the affected infants, and 2 families showed possible matrilineal inheritance of disease in maternal half sibs. Fourteen pedigrees included affected and unaffected infants, and a single pedigree had all 4 infants affected by the condition born to consanguineous but otherwise healthy parents. The authors suggested that these 14 pedigrees support autosomal recessive inheritance of this condition in at least some families.
Pathogenesis
Whitington (2007) and Whitington and Kelly (2008) presented evidence that neonatal hemochromatosis is a gestational disease in which fetal liver injury leads to the phenotype in the neonate. The rate of recurrence of the disorder in humna sibs after the index case is 60 to 80%, suggesting maternal alloimmunity against the fetal liver. Preliminary studies found that pregnant mice injected with human IgG from women whose babies had NH had pups with extensive hepatic injury and liver necrosis.
Clinical Management
Based on the hypothesis that neonatal hemochromatosis results from maternal alloimmunity, Whitington and Kelly (2008) treated 48 women with a history of having an affected fetus with IV Ig. The gestational histories of these women demonstrated the high risk of occurrence of neonatal hemochromatosis: 92% of at-risk pregnancies had resulted in intrauterine fetal demise, neonatal death, or liver failure necessitating transplant. In contrast, with IV Ig gestational therapy, 53 at-risk gestations resulted in 3 failures and 52 infants who survived intact with medical therapy alone. Two of the 3 failures were not related to NH; the remaining case was lost to follow-up. Whitington and Kelly (2008) concluded that most cases of neonatal hemochromatosis result from a gestational alloimmune disease and that the occurrence of severe neonatal hemochromatosis in at-risk pregnancies can be significantly reduced by treatment with high-dose intravenous Ig during gestation.
Molecular Genetics
Hardy et al. (1990) sought evidence for major rearrangements or deletions at the HLA class I region and at 3 loci directly involved in iron metabolism (H- and L-apoferritin and the transferrin receptor) in neonatal hemochromatosis. In 10 affected probands and 26 first-degree relatives in a total of 13 kindreds, they found no evidence for major rearrangements or deletions in genes studied, and found no evidence for linkage of neonatal hemochromatosis to HLA serotypes. Hardy et al. (1990) concluded that whereas hereditary hemochromatosis and neonatal hemochromatosis are similar in their patterns of iron loading, they are not genetically related.
In several families with neonatal hemochromatosis, Kelly et al. (2001) carried out molecular analysis of the beta-2 microglobulin gene (109700), the HFE gene (613609), and the heme oxygenase-1 and -2 genes (141250; 141251) and found no evidence of pathogenic mutations in any of these genes segregating with the disease phenotype.
INHERITANCE \- Autosomal recessive GROWTH Other \- Intrauterine growth retardation CARDIOVASCULAR Heart \- Myocardial iron deposition ABDOMEN Liver \- Cirrhosis \- Hepatic failure \- Iron deposition in hepatocytes \- Hepatic fibrosis \- Cholestasis \- Hepatocellular necrosis \- Giant cell transformation Pancreas \- Iron deposition in acinar cells GENITOURINARY Kidneys \- Iron deposition in renal tubular cells SKIN, NAILS, & HAIR Skin \- Jaundice, neonatal ENDOCRINE FEATURES \- Endocrine glands with iron deposition HEMATOLOGY \- Bleeding diathesis IMMUNOLOGY \- Extrahepatic reticuloendothelial system spared PRENATAL MANIFESTATIONS Amniotic Fluid \- Nonimmune hydrops \- Oligohydramnios LABORATORY ABNORMALITIES \- Increased serum iron \- Increased transferrin saturation \- Increased ferritin \- Hypoglycemia MISCELLANEOUS \- Onset in utero or at birth \- Rapid progression \- Death usually in newborn period or infancy ▲ 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
|
HEMOCHROMATOSIS, NEONATAL
|
c0268059
| 27,994 |
omim
|
https://www.omim.org/entry/231100
| 2019-09-22T16:27:35 |
{"doid": ["2352"], "mesh": ["C536394"], "omim": ["231100"], "icd-10": ["P59.29", "P78.84"], "orphanet": ["446"], "synonyms": ["Alternative titles", "NH", "NHC", "ALLOIMMUNE HEPATITIS, CONGENITAL", "NEONATAL HEPATITIS, FORMERLY", "GIANT CELL HEPATITIS, FORMERLY"]}
|
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. (March 2014)
ROSC and rearrest in an ECG signal
Rearrest (also known as refibrillation or recurrent ventricular fibrillation) is a phenomenon that involves the resumption of a lethal cardiac dysrhythmia after successful return of spontaneous circulation (ROSC) has been achieved during the course of resuscitation. Survival to hospital discharge rates are as low as 7% for cardiac arrest in general [1] and although treatable, rearrest may worsen these survival chances. Rearrest commonly occurs in the out-of-hospital setting under the treatment of health care providers.[2]
## Contents
* 1 Cause
* 2 Treatment
* 3 Prognosis
* 4 Epidemiology
* 5 Research
* 6 References
## Cause[edit]
Rearrest, which may have a similar etiology to cardiac arrest, is characterized as a compromise in the electrical activity of the heart often due to an ischemic event. The post-arrest patient who has recently obtained pulses, is dependent on prehospital care providers for ventilation assistance, arrhythmia correction through medication and blood pressure monitoring. Therefore insufficient care in any of these treatments may contribute to a rearrest event.
The lethal arrhythmia may be either ventricular fibrillation, ventricular tachycardia or asystole.
A strong suspect that may be a critical contributor to rearrest is the administration of chest compressions to the patient when the patient has already achieved a pulsatile rhythm. It is often difficult to determine the presence of a pulse in a cardiac arrest patient, thus chest compressions may be given by the unaware resuscitator and this added stress on the heart may contribute to a rearrest event.
## Treatment[edit]
Similar to cardiac arrest, rearrest is treated with both cardiopulmonary resuscitation and defibrillation. The goal of treatment is to reestablish a self perfusing heart through correction of the electrical activity within the heart. CPR entails chest compressions along with rescue breaths, while defibrillation involves a biphasic shock across the chest with the purpose of restarting the electrical activity of the heart.
Anti-arrythmic drugs are commonly given during the ROSC phase. These drugs may include lidocaine and amiodarone.
## Prognosis[edit]
Rearrest may reduce the likelihood of survival when compared to patients who have had just one episode of cardiac arrest.[3] Overall resuscitation rates have been estimated to be about 34%,[4] however survival to hospital discharge rates are as low as 7%.[1] This phenomenon may be contributed to rearrest.
## Epidemiology[edit]
A recent study by Salcido et al. (2010) ascertained rearrest in all initial and rearrest rhythms treated by any level of Emergency Medical Service (EMS), finding a rearrest rate of 36% and a lower but not significantly different rate of survival to hospital discharge in cases with rearrest compared to those without rearrest.[5]
## Research[edit]
Current research seeks to predict the event of rearrest after patients have already achieved ROSC. Biosignals, such as electrocardiogram (ECG), have the potential to predict the onset of rearrest and are currently being investigated to preemptively warn health care providers that rearrest could be imminent.
A stronger pulse detector would also contribute to lowering the rate of rearrest. If the resuscitator could accurately know when the patient has achieved ROSC, there would be less instances of chest compressions being provided when a native pulse is present.
## References[edit]
1. ^ a b Nichol G, Thomas E, Callway CW, Hedges J, Powell JL, Aufderheide TP, Rea T, Lowe R, Brown T, Dreyer J, Davis D, Idris A, Stiell I (Sep 24, 2008). "Regional variation in out-of-hospital cardiac arrest incidence and outcome". JAMA. 12. 300 (12): 1423–31. doi:10.1001/jama.300.12.1423. PMC 3187919. PMID 18812533.
2. ^ White, Roger; James L. Russell (May 29, 2002). "Refibrillation, resuscitation and survival in out-of-hospital sudden cardiac arrest victims treated with biphasic automated external defibrillators". Resuscitation. 55 (1): 17–23. doi:10.1016/s0300-9572(02)00194-6. PMID 12297349.
3. ^ Berdowski, Jocelyn; Monique ten Haaf; Jan G.P. Tijssen; Fred W. Chapman; Rudolph W. Koster (August 30, 2010). "Time in Recurrent Ventricular Fibrillation and Survival After Out-of-Hospital Cardiac Arrest". Circulation. 122 (11): 1101–1108. doi:10.1161/CIRCULATIONAHA.110.958173. PMID 20805427.
4. ^ Lerner, Brooke; Michael O'Connell; Ronald Pirrallo (January–March 2011). "Rearrest After Prehospital Resuscitation". Prehospital Emergency Care. 15 (1): 50–54. doi:10.3109/10903127.2010.519820. PMID 21054177.
5. ^ Salcido, David; Amanda M. Stephenson; Joseph P. Condle; Clifton W. Callaway; James J. Menegazzi (April 26, 2010). "Incidence of Rearrest After Return of Spontaneous Circulation in Out-of-Hospital Cardiac Arrest". Prehospital Emergency Care. 14 (4): 413–418. doi:10.3109/10903127.2010.497902. PMC 3226713. PMID 20809686.
*[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
|
Rearrest
|
None
| 27,995 |
wikipedia
|
https://en.wikipedia.org/wiki/Rearrest
| 2021-01-18T18:34:30 |
{"wikidata": ["Q7301459"]}
|
Vibration white finger (VWF), also known as hand-arm vibration syndrome (HAVS) or dead finger,[1] is a secondary form of Raynaud's syndrome, an industrial injury triggered by continuous use of vibrating hand-held machinery. Use of the term vibration white finger has generally been superseded in professional usage by broader concept of HAVS, although it is still used by the general public. The symptoms of vibration white finger are the vascular component of HAVS.
HAVS is a widespread recognized industrial disease affecting tens of thousands of workers. It is a disorder that affects the blood vessels, nerves, muscles, and joints of the hand, wrist, and arm. Its best known effect is vibration-induced white finger (VWF), a term introduced by the Industrial Injury Advisory Council in 1970. Injury can occur at frequencies between 5 and 2000 Hz but the greatest risk for fingers is between 50 and 300 Hz. The total risk exposure for hand and arm is calculated by the use of ISO 5349-1, which stipulates maximum damage between 8 and 16 Hz and a rapidly declining risk at higher frequencies. The ISO 5349-1 frequency risk assessment has been criticized as corresponding poorly to observational data; more recent research suggests that medium and high frequency vibrations also increase HAVS risk.[2][3]
## Contents
* 1 Effects
* 2 Prevention
* 3 Anti-vibration gloves
* 4 Reactive monitoring
* 5 History
* 6 See also
* 7 References
* 8 External links
## Effects[edit]
Excessive exposure to hand arm vibrations can result in various patterns of diseases casually known as HAVS or VWF. This can affect nerves, joints, muscles, blood vessels or connective tissues of the hand and forearm:[citation needed]
* Tingling 'whiteness' or numbness in the fingers (blood vessels and nerves affected): This may not be noticeable at the end of a working day, and in mild cases may affect only the tips of the fingers. As the condition becomes more severe, the whole finger down to the knuckles may become white. Feeling may also be lost.
* Fingers change colour (blood vessels affected): With continued exposure the person may suffer periodic attacks in which the fingers change colour when exposed to the cold. Initially the fingers rapidly become pale and feeling is lost. This phase is followed by an intense red flush (sometimes preceded by a dusky bluish phase) signalling the return of blood circulation to the fingers and is usually accompanied by uncomfortable throbbing.
* Loss of manual dexterity (nerves and muscles affected): In more severe forms, attacks may occur frequently in cold weather, not only at work, but during leisure activities, such as gardening, car washing or even watching outdoor sports and may last up to an hour causing considerable pain and loss of manual dexterity and reduced grip strength.
In extreme cases, the sufferer may lose fingers. The effects are cumulative. When symptoms first appear, they may disappear after a short time. If exposure to vibration continues over months or years, the symptoms can worsen and become permanent.[4]
## Prevention[edit]
The Control of Vibration at Work Regulations 2005, created under the Health and Safety at Work etc. Act 1974.[5] is the legislation in the UK that governs exposure to vibration and assists with preventing HAVS occurring.
Good practice in industrial health and safety management requires that worker vibration exposure is assessed in terms of acceleration, amplitude, and duration. Using a tool that vibrates slightly for a long time can be as damaging as using a heavily vibrating tool for a short time. The duration of use of the tool is measured as trigger time, the period when the worker actually has their finger on the trigger to make the tool run, and is typically quoted in hours per day. Vibration amplitude is quoted in metres per second squared, and is measured by an accelerometer on the tool or given by the manufacturer. Amplitudes can vary significantly with tool design, condition and style of use, even for the same type of tool.[citation needed]
In the UK, Health and Safety Executive gives the example of a hammer drill which can vary from 6 m/s² to 25 m/s². HSE publishes a list of typically observed vibration levels for various tools, and graphs of how long each day a worker can be exposed to particular vibration levels. This makes managing the risk relatively straightforward. Tools are given an Exposure Action Value (EAV, the time which a tool can be used before action needs to be taken to reduce vibration exposure) and an Exposure Limit Value (ELV, the time after which a tool may not be used).[citation needed]
In the United States, the National Institute for Occupational Safety and Health published a similar database where values for sound power and vibrations for commonly found tools from large commercial vendors in the United States were surveyed. Further testing is underway for more and newer tools.[citation needed]
The effect of legislation in various countries on worker vibration limits has been to oblige equipment providers to develop better-designed, better-maintained tools, and for employers to train workers appropriately. It also drives tool designers to innovate to reduce vibration. Some examples are the easily manipulated mechanical arm (EMMA)[6] and the suspension mechanism designed into chainsaws.[citation needed]
## Anti-vibration gloves[edit]
Anti vibration gloves are traditionally made with a thick and soft palm material to insulate from the vibrations. The protection is highly dependent on frequency range; most gloves provide no protection in palm and wrist below ~50 Hz and in fingers below ~400 Hz. Factors such as high grip force, cold hands or vibration forces in shear direction can have a reducing effect and or increase damage to the hands and arms. Gloves do help to keep hands warm but to get the desired effect, the frequency output from the tool must match the properties of the vibration glove that is selected. Anti-vibration gloves in many cases amplify the vibrations at frequencies lower than those mentioned in the text above.[citation needed]
## Reactive monitoring[edit]
A simpler system, known as re-active monitoring, may be used by, for example, monitoring rates of usage of consumable items. Such a system was introduced by Carl West at a fabrication workshop in Rotherham, England. In this system, the vibration levels of the angle grinding tools in use was measured, as was the average life of a grinding disk. Thus by recording numbers of grinding disks used, vibration exposure may be calculated.[7]
## History[edit]
The symptoms were first described by Professor Giovanni Loriga in Italy in 1911, although the link was not made between the symptoms and vibrating hand tools until a study undertaken by Alice Hamilton MD in 1918. She formed her theory through following the symptoms reported by quarry cutters and carvers in Bedford, Indiana. She also discovered the link between an increase in HAV symptoms and cold weather as 1918 was a particularly harsh winter.[citation needed]
The first scale for assessing the condition, the Taylor-Pelmear scale, was published in 1975, but it was not listed as a prescribed disease in the United Kingdom until 1985, and the Stockholm scale was introduced in 1987. In 1997, the UK High Court awarded £127,000 in compensation to seven coal miners for vibration white finger. A UK government fund set up to cover subsequent claims by ex-coalminers had exceeded £100 million in payments by 2004.
## See also[edit]
* List of cutaneous conditions
* Hypothenar hammer syndrome
## References[edit]
1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
2. ^ Bovenzi, Massimo (2012). "Epidemiological evidence for new frequency weightings of hand-transmitted vibration". Industrial Health. 50 (5): 377–387. doi:10.2486/indhealth.ms1382. ISSN 1880-8026. PMID 23060251.
3. ^ Nilsson, Tohr; Wahlström, Jens; Burström, Lage (2017). "Hand-arm vibration and the risk of vascular and neurological diseases-A systematic review and meta-analysis". PLOS One. 12 (7): e0180795. doi:10.1371/journal.pone.0180795. ISSN 1932-6203. PMC 5509149. PMID 28704466.
4. ^ "Vibration White Finger".
5. ^ "The Control of Vibration at Work Regulations 2005". www.legislation.gov.uk. Retrieved 11 January 2018.
6. ^ "Boeing Frontiers Online". www.boeing.com. Retrieved 11 January 2018.
7. ^ "Monitoring exposure to Hand-Arm Vibration". Hse.gov.uk. 2010-08-19. Retrieved 2012-05-25.
## External links[edit]
* BBC News article on coal miners claims
* "Noise and vibration". Trades Union Congress. Archived from the original on 2013-05-25. – basic facts
* UK Health and Safety Executive
* NIOSH Power Tools Sound Power and Vibrations Database
* HSE webpage HAV case studies
Authority control
* LCCN: sh85143127
* NDL: 00562860
*[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
|
Vibration white finger
|
c1363854
| 27,996 |
wikipedia
|
https://en.wikipedia.org/wiki/Vibration_white_finger
| 2021-01-18T18:45:20 |
{"mesh": ["D053421"], "wikidata": ["Q2031871"]}
|
Rift Valley fever (RVF), caused by the Rift Valley fever virus (RVFV), is an arbovirus characterized by a usually self-limiting febrile illness but that in some cases can also manifest with thrombosis, vision loss, hemorrhages and/or neurological symptoms.
*[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
|
Rift valley fever
|
c0035613
| 27,997 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=319251
| 2021-01-23T17:10:31 |
{"mesh": ["D012295"], "umls": ["C0035613"], "icd-10": ["A92.4"]}
|
Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated.
*[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
|
Neonatal Marfan syndrome
|
c4016054
| 27,998 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=284979
| 2021-01-23T18:18:32 |
{"icd-10": ["Q87.4"], "synonyms": ["Neonatal MFS"]}
|
This peculiarity has been observed in identical twins (Vogel, 1965) and in parents and sibs of probands (Radin, 1964).
Lab \- EEG 14 and 6 per second spikes 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
|
ELECTROENCEPHALOGRAPHIC PECULIARITY: 14 AND 6 PER SEC. POSITIVE SPIKE PHENOMENON
|
c1851757
| 27,999 |
omim
|
https://www.omim.org/entry/130200
| 2019-09-22T16:41:46 |
{"omim": ["130200"]}
|
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