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Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are 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-aminobutyric 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	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency	c1849507	26,400	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=35120	2021-01-23T18:14:27	{"mesh": ["C564859"], "omim": ["266120"], "umls": ["C1849507"], "icd-10": ["D55.3"], "synonyms": ["P5N deficiency", "UMPH1 deficiency", "Uridine 5'-monophosphate hydrolase deficiency"]}
## Description Restless legs syndrome (RLS) is a neurologic disorder characterized by an uncontrollable urge to move the legs during periods of rest. The majority of patients with RLS also have periodic limb movements in sleep, which are characterized by involuntary, highly stereotypical, regularly occurring limb movements that occur during sleep. Limb movements during sleep are more common in otherwise asymptomatic family members of patients with RLS compared to the general population (Stefansson et al., 2007). Thus, periodic limb movements during sleep may serve as an endophenotype for RLS. However, not all patients with RLS have limb movements during sleep, and the majority of individuals with limb movements during sleep do not have waking symptoms of RLS (Winkelman, 2007). For additional information and a discussion of genetic heterogeneity of RLS, see RLS1 (102300). Mapping In a genomewide association study, Winkelmann et al. (2007) found a significant association between RLS and 2 SNPs (rs9296249 and rs9357271) in the BTBD9 gene (611237) on chromosome 6p21. The findings were confirmed in 2 independent replication studies of 875 and 211 patients, respectively. In an analysis of 2 independent samples of 306 and 123 Icelandic subjects, respectively, with RLS and periodic limb movements during sleep, Stefansson et al. (2007) found a significant association with the A allele of rs3923809 in the BTBD9 gene. Combining the results with a third patient group from the U.S. yielded an odds ratio of 1.7 (p = 3 x 10(-14)) for this SNP. Combined data from all 546 Icelandic individuals with periodic limb movements during sleep with or without RLS yielded a higher association with the A allele (odds ratio of 1.9; p = 10(-17)). However, there was no association between the A allele of rs3923809 among 229 individuals with RLS without periodic limb movement (35% of total patient sample), suggesting that the authors had identified a genetic determinant of periodic limb movements in sleep. Winkelman (2007) commented that the report of Stefansson et al. (2007) demonstrated an association of the BTBD9 variant with periodic limb movements in sleep, but not with RLS. Since Winkelmann et al. (2007) did not report on periodic leg movements in sleep, it remained unclear whether the sequence variants they found were true for RLS, leg movements, or some other potential RLS marker. In a study of 244 patients with restless legs syndrome, including 123 familial probands, Vilarino-Guell et al. (2008) confirmed an association with several SNPs in the BTBD9 gene, including rs3923809. In a study including 649 RLS patients and 1,230 controls from the Czech Republic, Austria, and Finland, Kemlink et al. (2009) found an association between RLS and rs3923809 in the BTBD9 gene (p = 4.11 x 10(-5); odds ratio of 1.58). The association was found in both familial and sporadic cases. Vilarino-Guell et al. (2009) found no novel variants in coding regions or within 10 bp of exon-intron boundaries of the BTBD9 gene among 71 RLS probands. Restless legs syndrome can occur in end-stage renal disease (ESRD), with a prevalence ranging between 18.4 and 45.8% in ESRD patients of European descent (summary by Schormair et al., 2011). In 2 case-control association studies of 200 RLS patients and 443 non-RLS patients both with ESRD of German descent and 141 RLS and 393 non-RLS patients both with ESRD of Greek descent, Schormair et al. (2011) found an association with rs3923809 in the BTBD9 gene: an OR of 1.55, p = 0.001 in the German sample and an OR of 1.33, p = 0.080 in the Greek sample. The combined samples yielded an OR of 1.47, p (corrected) = 0.0013. [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-aminobutyric 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	RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 6	c1970020	26,401	omim	https://www.omim.org/entry/611185	2019-09-22T16:03:29	{"omim": ["611185"], "synonyms": ["Alternative titles", "PERIODIC LIMB MOVEMENTS IN SLEEP"]}
A number sign (#) is used with this entry because of evidence that microphthalmia with limb anomalies (MLA) is caused by homozygous mutation in the SMOC1 gene (608488) on chromosome 14q24. Clinical Features In 5 children of 2 different families with consanguineous parents, Richieri-Costa et al. (1983) described the association of bilateral (in 4) or unilateral (in 1) clinical anophthalmia with multiple other congenital abnormalities, mainly in the distal parts of the limbs. Traboulsi et al. (1984), who attributed the first description to Waardenburg (1961), reported affected brother and sister and affected first cousin once removed. The parents were consanguineous in the case of each affected sibship. The proband had bilateral syndactyly of the fourth and fifth toes, synostosis of the fourth and fifth metatarsals on the left, and absence of the right fifth metatarsal. Another sister had cleft lip and fused toes without anophthalmia and another sister had bilateral toe fusion deformities. Le Merrer et al. (1988) described 2 consanguineous sibships with 3 children and 2 children with this syndrome, respectively. The distal abnormalities of the limbs included syndactyly IV-V, fusion of metacarpals IV-V, absence of the fifth toes, and, in the second family, hypoplasia of the fibula with short femur or tibia. Sayli et al. (1995) reported the cases of 2 brothers from a consanguineous family who had bilateral clinical anophthalmia, partial synostosis of metatarsals IV and V, and basal synostosis of the fourth and fifth toes on the right only in the older sib. Suyugul et al. (1996) reported the cases of 2 girls, the offspring of consanguineous Turkish parents, who had bilateral clinical anophthalmia, upper and lower limb abnormalities, and mental retardation. They reported an affected boy with consanguineous parents from a second Turkish family and reviewed features of some of the reported cases. This disorder was also described by Pallotta and Dallapiccola (1984). Megarbane et al. (1998) described a 12-day-old male infant, born of consanguineous Lebanese parents, with clinical anophthalmia, split hand, oligodactyly, syndactyly, and polydactyly. The authors stated that these features were consistent with ophthalmoacromelic syndrome (OAS), but noted that this was the first report of 2/3 syndactyly of the fingers, metacarpal polydactyly, or lobster-claw hand deformity in OAS. Tekin et al. (2000) reported an additional patient with ophthalmoacromelic syndrome. The parents were of Turkish ancestry and were reportedly distant relatives. The patient had bilateral clinical anophthalmia and typical limb malformations. In addition, the patient had interruption of the inferior vena cava with azygos continuation, the first report of internal organ abnormalities in this condition. Cogulu et al. (2000) reported an 8-year-old Turkish girl, born of consanguineous parents, who had bilateral clinical anophthalmia, syndactyly of the fourth and fifth fingers, and absence of the fifth toes. Psychomotor development was normal. X-ray examination revealed proximal fourth and fifth metacarpal synostosis, hypoplasia of the fifth finger, coalition of capitate and hamate, and absence of the fifth metatarsals and toes. Garavelli et al. (2006) described an Italian boy, born of second-cousin gypsy parents, who had bilateral clinical anophthalmia, fused fourth and fifth metacarpals bilaterally with fifth fingers set at the base of the fourth, presence of 4 toes with 2-3 syndactyly, and undescended right testis. Abdominal ultrasound and renal scintigraphy revealed horseshoe kidney; the authors stated that this was the first report of a renal malformation in this disorder. Teiber et al. (2007) described a 15-month-old girl with ophthalmoacromelic syndrome. She had an asymmetric face, left unilateral microphthalmia, short, hypoplastic fifth fingers with a single interphalangeal crease, and proximal implantation of the second and third toes. Radiographs of the hands revealed synostosis of the fourth and fifth metacarpals. Spine x-rays demonstrated cervical fusion and hemivertebrae. The authors stated that this was the first report of vertebral anomalies in this disorder. Mapping Hamanoue et al. (2009) performed homozygosity mapping in 2 unrelated consanguineous Lebanese families with ophthalmoacromelic syndrome, 1 of which had been previously reported by Megarbane et al. (1998), and identified a 422-kb common region on chromosome 10p11.23 between STS9 and STS12. Analysis of the 2 Lebanese families as well as a nonconsanguineous Japanese OAS family with 2 affected sibs yielded a maximum multipoint lod score of 3.9863 near STS9; the maximum 2-point lod score was 2.9444 (theta = 0.0) at STS10. No causative mutations were found on screening of MPP7 (610973), the only gene located in the critical interval. All 3 families had different haplotypes in the 422-kb segment. In the 3 families with microphthalmia and limb anomalies (MLA) previously studied by Hamanoue et al. (2009) and an additional Turkish MLA family, previously reported by Cogulu et al. (2000), Okada et al. (2011) performed homozygosity mapping and haplotype analysis but did not detect any regions common to all 4 families. Analysis to identify common regions in any 3 of the 4 families yielded a lod score of 3.9 at chromosome 14q24.1-q24.2 in the Japanese and Turkish families and 1 of the Lebanese families. Fine mapping narrowed the region to a 3.0-Mb interval containing 24 genes. In a consanguineous Egyptian family in which 2 sisters had MLA, Abouzeid et al. (2011) performed homozygosity mapping and identified 3 homozygous regions larger than 1 Mb, the largest of which was a 14-Mb interval at chromosome 14q23. Molecular Genetics In 3 families with microphthalmia and limb anomalies mapping to chromosome 14q24.1-q24.2, Okada et al. (2011) analyzed 14 candidate genes and identified homozygosity for a nonsense and 2 different splice site mutations in the SMOC1 gene, respectively (see, e.g., 608488.0001-608488.0003). The mutations segregated with disease in each of the families and were not found in ethnically matched controls. No mutations were found in a fourth MLA family, in which the proband was a Lebanese boy originally reported by Megarbane et al. (1998); the disease in that consanguineous family was unlinked to the 14q24.1-q24.2 locus. In 2 sisters with MLA from a consanguineous Egyptian family, Abouzeid et al. (2011) identified a splice site mutation in the SMOC1 gene (608488.0003). The mutation was detected in heterozygosity in the unaffected parents, but was not found in 556 control chromosomes from individuals of Egyptian, North African, and European descent. ### Genetic Heterogeneity In the Lebanese boy with MLA who was originally described by Megarbane et al. (1998) and was found to be negative for mutation in the SMOC1 gene by Okada et al. (2011), Kondo et al. (2013) performed whole-exome sequencing and identified homozygosity for a missense variant in the FNBP4 gene (T228M; see 615265.0001). Although Kondo et al. (2013) demonstrated substantial FNBP4 expression in human fetal and adult eye tissues, the causative nature of the T228M variant has not been confirmed. Animal Model Okada et al. (2011) studied Smoc1-null mice and observed recapitulation of the human microphthalmia and limb anomalies phenotype, including aplasia or hypoplasia of optic nerves, hypoplastic fibula and bowed tibia, and syndactyly in limbs. A thinned and irregular ganglion cell layer and atrophy of the anteroventral part of the retina were also observed. Nomenclature See 309800 for discussion of the misuse of the term 'anophthalmia' in the medical literature. INHERITANCE \- Autosomal recessive GROWTH Other \- Postnatal growth retardation HEAD & NECK Face \- Prominent philtrum \- Retrognathia \- Prominent forehead Ears \- Low-set ears \- Posteriorly rotated ears Eyes \- Clinical anophthalmia, unilateral/bilateral (87%) \- Small orbits \- Microphthalmia \- Normal eyelashes, eyebrows \- Downslanting palpebral fissures \- Short palpebral fissure Nose \- Short nose \- Flat nasal bridge \- Flared nostrils Mouth \- High-arched palate \- Cleft lip \- Cleft palate CARDIOVASCULAR Vascular \- Inferior vena cava interruption with azygos continuation SKELETAL Pelvis \- Hip dislocation Limbs \- Hypoplastic fibula \- Bowed tibia Hands \- Fused 4th-5th metacarpals \- Camptodactyly (2nd-5th fingers) \- Syndactyly \- Single transverse palmar creases Feet \- Clubfoot \- Oligodactyly \- Widened gap 1st-2nd toes \- Syndactyly \- Postaxial polydactyly SKIN, NAILS, & HAIR Hair \- Normal eyelashes \- Normal eyebrows NEUROLOGIC Central Nervous System \- Mental retardation (47%) MOLECULAR BASIS \- Caused by mutation in the SPARC-related modular calcium-binding 1 gene (SMOC1, 608488.0001 ) ▲ 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-aminobutyric 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	MICROPHTHALMIA WITH LIMB ANOMALIES	c0599973	26,402	omim	https://www.omim.org/entry/206920	2019-09-22T16:30:56	{"doid": ["0060861"], "mesh": ["C537769"], "omim": ["206920"], "orphanet": ["1106"], "synonyms": ["Alternative titles", "WAARDENBURG ANOPHTHALMIA SYNDROME", "ANOPHTHALMIA-SYNDACTYLY", "OPHTHALMOACROMELIC SYNDROME"], "genereviews": ["NBK1378"]}
Nodular nonsuppurative panniculitis describes a rare group of skin disorders characterized by tender, painful bumps below the surface of the skin (subcutaneous nodules) that usually lead to inflammation of the subcutaneous layer of fat (panniculitis). These nodules tend to be 1-2 centimeters in length and most often affect the legs and feet. In most people, this condition is associated with fever, a general feeling of ill health (malaise), muscle pain, and/or abdominal pain. These symptoms may subside after a few days or weeks and may recur weeks, months, or years later. The exact cause of nodular nonsuppurative panniculitis is unknown. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-aminobutyric 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	Nodular nonsuppurative panniculitis	c0030328	26,403	gard	https://rarediseases.info.nih.gov/diseases/7879/nodular-nonsuppurative-panniculitis	2021-01-18T17:58:41	{"mesh": ["D010201"], "umls": ["C0030328"], "orphanet": ["33577"], "synonyms": ["Panniculitis nodular nonsuppurative", "Weber-Christian panniculitis", "Idiopathic nodular panniculitis", "Relapsing febrile nodular nonsuppurative panniculitis", "Pfeiffer-Weber-Christian syndrome"]}
Spondylocarpotarsal synostosis syndrome is a disorder that affects the development of bones throughout the body. Newborns with this disorder are of approximately normal length, but impaired growth of the torso results in short stature over time. The bones of the spine (vertebrae) are misshapen and abnormally joined together (fused). The vertebral abnormalities may result in an abnormally curved lower back (lordosis) and a spine that curves to the side (scoliosis). People with spondylocarpotarsal synostosis syndrome have abnormalities and fusion of the bones of the wrist (carpal bones) and ankle (tarsal bones). They may also have inward- and upward-turning feet (clubfeet). Characteristic facial features include a round face, a large forehead (frontal bossing), and nostrils that open to the front rather than downward (anteverted nares). Some people with spondylocarpotarsal synostosis syndrome have an opening in the roof of the mouth (a cleft palate), hearing loss, thin tooth enamel, flat feet, or an unusually large range of joint movement (hypermobility). Individuals with this disorder can survive into adulthood. Intelligence is generally unaffected, although mild developmental delay has been reported in some affected individuals. ## Frequency Spondylocarpotarsal synostosis syndrome is a rare disorder; its prevalence is unknown. At least 25 affected individuals have been identified. ## Causes Mutations in the FLNB gene cause spondylocarpotarsal synostosis syndrome. The FLNB gene provides instructions for making a protein called filamin B. This protein helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. Filamin B attaches (binds) to another protein called actin and helps the actin to form the branching network of filaments that makes up the cytoskeleton. It also links actin to many other proteins to perform various functions within the cell, including the cell signaling that helps determine how the cytoskeleton will change as tissues grow and take shape during development. Filamin B is especially important in the development of the skeleton before birth. It is active (expressed) in the cell membranes of cartilage-forming cells (chondrocytes). Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone (a process called ossification), except for the cartilage that continues to cover and protect the ends of bones and is present in the nose, airways (trachea and bronchi), and external ears. Filamin B appears to be important for normal cell growth and division (proliferation) and maturation (differentiation) of chondrocytes and for the ossification of cartilage. FLNB gene mutations that cause spondylocarpotarsal synostosis syndrome result in the production of an abnormally short filamin B protein that is unstable and breaks down rapidly. Loss of the filamin B protein appears to result in out-of-place (ectopic) ossification, resulting in fusion of the bones in the spine, wrists, and ankles and other signs and symptoms of spondylocarpotarsal synostosis syndrome. A few individuals who have been diagnosed with spondylocarpotarsal synostosis syndrome do not have mutations in the FLNB gene. Researchers are working to identify and confirm additional genetic changes that can cause this disorder. ### Learn more about the genes associated with Spondylocarpotarsal synostosis syndrome * FLNB * MYH3 ## Inheritance Pattern Spondylocarpotarsal synostosis syndrome caused by FLNB gene mutations is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. In a few individuals with signs and symptoms similar to those of spondylocarpotarsal synostosis syndrome but without FLNB gene mutations, the condition appears to have been inherited in an autosomal dominant pattern. Autosomal dominant 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-aminobutyric 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	Spondylocarpotarsal synostosis syndrome	c1848934	26,404	medlineplus	https://medlineplus.gov/genetics/condition/spondylocarpotarsal-synostosis-syndrome/	2021-01-27T08:24:43	{"gard": ["4974"], "mesh": ["C535780"], "omim": ["272460"], "synonyms": []}
Inflammation of the stomach and small intestine Gastroenteritis Other namesGastro, stomach bug, stomach virus, stomach flu, gastric flu, gastrointestinitis Gastroenteritis viruses: A = rotavirus, B = adenovirus, C = norovirus and D = astrovirus. The virus particles are shown at the same magnification to allow size comparison. SpecialtyInfectious disease SymptomsDiarrhea, vomiting, abdominal pain, fever[1][2] ComplicationsDehydration[2][3] CausesViruses, bacteria, parasites, fungus[2][4] Diagnostic methodBased on symptoms, occasionally stool culture[2] Differential diagnosisInflammatory bowel disease, malabsorption syndrome, lactose intolerance[5] PreventionHand washing, drinking clean water, proper disposal of human waste, breastfeeding[2] TreatmentOral rehydration solution (combination of water, salts, and sugar), intravenous fluids[2] Frequency2.4 billion (2015)[6] Deaths1.3 million (2015)[7] Gastroenteritis, also known as infectious diarrhea and gastro, is inflammation of the gastrointestinal tract—the stomach and intestine.[8] Symptoms may include diarrhea, vomiting and abdominal pain.[1] Fever, lack of energy and dehydration may also occur.[2][3] This typically lasts less than two weeks.[8] It is not related to influenza, though it has erroneously been called the "stomach flu".[9] Gastroenteritis is usually caused by viruses.[4] However, bacteria, parasites, and fungus can also cause gastroenteritis.[2][4] In children, rotavirus is the most common cause of severe disease.[10] In adults, norovirus and Campylobacter are common causes.[11][12] Eating improperly prepared food, drinking contaminated water or close contact with a person who is infected can spread the disease.[2] Treatment is generally the same with or without a definitive diagnosis, so testing to confirm is usually not needed.[2] Prevention includes hand washing with soap, drinking clean water, breastfeeding babies instead of using formula[2] and proper disposal of human waste. The rotavirus vaccine is recommended as a prevention for children.[2][10] Treatment involves getting enough fluids.[2] For mild or moderate cases, this can typically be achieved by drinking oral rehydration solution (a combination of water, salts and sugar).[2] In those who are breastfed, continued breastfeeding is recommended.[2] For more severe cases, intravenous fluids may be needed.[2] Fluids may also be given by a nasogastric tube.[13] Zinc supplementation is recommended in children.[2] Antibiotics are generally not needed.[14] However, antibiotics are recommended for young children with a fever and bloody diarrhea.[1] In 2015, there were two billion cases of gastroenteritis, resulting in 1.3 million deaths globally.[6][7] Children and those in the developing world are affected the most.[15] In 2011, there were about 1.7 billion cases, resulting in about 700,000 deaths of children under the age of five.[16] In the developing world, children less than two years of age frequently get six or more infections a year.[17] It is less common in adults, partly due to the development of immunity.[18] ## Contents * 1 Signs and symptoms * 2 Cause * 2.1 Viral * 2.2 Bacterial * 2.3 Parasitic * 2.4 Transmission * 2.5 Non-infectious * 3 Pathophysiology * 4 Diagnosis * 4.1 Dehydration * 4.2 Differential diagnosis * 5 Prevention * 5.1 Lifestyle * 5.2 Vaccination * 6 Management * 6.1 Rehydration * 6.2 Dietary * 6.3 Antiemetics * 6.4 Antibiotics * 6.5 Antimotility agents * 7 Epidemiology * 8 History * 9 Society and culture * 10 Research * 11 Other animals * 12 References * 12.1 Notes * 13 External links ## Signs and symptoms[edit] Bristol stool chart Gastroenteritis usually involves both diarrhea and vomiting.[18] Sometimes, only one or the other is present.[1] This may be accompanied by abdominal cramps.[1] Signs and symptoms usually begin 12–72 hours after contracting the infectious agent.[15] If due to a virus, the condition usually resolves within one week.[18] Some viral infections also involve fever, fatigue, headache and muscle pain.[18] If the stool is bloody, the cause is less likely to be viral[18] and more likely to be bacterial.[19] Some bacterial infections cause severe abdominal pain and may persist for several weeks.[19] Children infected with rotavirus usually make a full recovery within three to eight days.[20] However, in poor countries treatment for severe infections is often out of reach and persistent diarrhea is common.[21] Dehydration is a common complication of diarrhea.[22] Severe dehydration in children may be recognized if the skin color and position returns slowly when pressed.[23] This is called "prolonged capillary refill" and "poor skin turgor".[23] Abnormal breathing is another sign of severe dehydration.[23] Repeat infections are typically seen in areas with poor sanitation, and malnutrition.[15] Stunted growth and long-term cognitive delays can result.[17] Reactive arthritis occurs in 1% of people following infections with Campylobacter species.[19] Guillain–Barré syndrome occurs in 0.1%.[19] Hemolytic uremic syndrome (HUS) may occur due to infection with Shiga toxin-producing Escherichia coli or Shigella species.[24] HUS causes low platelet counts, poor kidney function, and low red blood cell count (due to their breakdown).[24] Children are more predisposed to getting HUS than adults.[17] Some viral infections may produce benign infantile seizures.[1] ## Cause[edit] Viruses (particularly rotavirus) and the bacteria Escherichia coli and Campylobacter species are the primary causes of gastroenteritis.[15][25] There are, however, many other infectious agents that can cause this syndrome including parasites and fungus.[17][4] Non-infectious causes are seen on occasion, but they are less likely than a viral or bacterial cause.[1] Risk of infection is higher in children due to their lack of immunity.[1] Children are also at higher risk because they are less likely to practice good hygiene habits.[1] Children living in areas without easy access to water and soap are especially vulnerable.[1] ### Viral[edit] Rotavirus, norovirus, adenovirus, and astrovirus are known to cause viral gastroenteritis.[18][26] Rotavirus is the most common cause of gastroenteritis in children,[25] and produces similar rates in both the developed and developing world.[20] Viruses cause about 70% of episodes of infectious diarrhea in the pediatric age group.[13] Rotavirus is a less common cause in adults due to acquired immunity.[27] Norovirus is the cause in about 18% of all cases.[28] Generally speaking, viral gastroenteritis accounts for 21%-40% of the cases of infectious diarrhea in developed countries.[29] Norovirus is the leading cause of gastroenteritis among adults in America accounting for about 90% of viral gastroenteritis outbreaks.[18] These localized epidemics typically occur when groups of people spend time in close physical proximity to each other, such as on cruise ships,[18] in hospitals, and in restaurants.[1] People may remain infectious even after their diarrhea has ended.[18] Norovirus is the cause of about 10% of cases in children.[1] ### Bacterial[edit] Salmonella enterica serovar Typhimurium (ATCC 14028) as seen with a microscope at 1000 fold magnification and following Gram staining. In some countries,Campylobacter jejuni is the primary cause of bacterial gastroenteritis, with half of these cases associated with exposure to poultry.[19] In children, bacteria are the cause in about 15% of cases, with the most common types being Escherichia coli, Salmonella, Shigella, and Campylobacter species.[13] If food becomes contaminated with bacteria and remains at room temperature for a period of several hours, the bacteria multiply and increase the risk of infection in those who consume the food.[17] Some foods commonly associated with illness include raw or undercooked meat, poultry, seafood, and eggs; raw sprouts; unpasteurized milk and soft cheeses; and fruit and vegetable juices.[30] In the developing world, especially sub-Saharan Africa and Asia, cholera is a common cause of gastroenteritis. This infection is usually transmitted by contaminated water or food.[31] Toxigenic Clostridium difficile is an important cause of diarrhea that occurs more often in the elderly.[17] Infants can carry these bacteria without developing symptoms.[17] It is a common cause of diarrhea in those who are hospitalized and is frequently associated with antibiotic use.[32] Staphylococcus aureus infectious diarrhea may also occur in those who have used antibiotics.[33] Acute "traveler's diarrhea" is usually a type of bacterial gastroenteritis, while the persistent form is usually parasitic.[34] Acid-suppressing medication appears to increase the risk of significant infection after exposure to a number of organisms, including Clostridium difficile, Salmonella, and Campylobacter species.[35] The risk is greater in those taking proton pump inhibitors than with H2 antagonists.[35] ### Parasitic[edit] A number of parasites can cause gastroenteritis.[13] Giardia lamblia is most common, but Entamoeba histolytica, Cryptosporidium spp., and other species have also been implicated.[13][34] As a group, these agents comprise about 10% of cases in children.[24][34] Giardia occurs more commonly in the developing world, but this type of illness can occur nearly everywhere.[36] It occurs more commonly in persons who have traveled to areas with high prevalence, children who attend day care, men who have sex with men, and following disasters.[36] ### Transmission[edit] Transmission may occur from drinking contaminated water or when people share personal objects.[15] Water quality typically worsens during the rainy season and outbreaks are more common at this time.[15] In areas with four seasons, infections are more common in the winter.[17] Worldwide, bottle-feeding of babies with improperly sanitized bottles is a significant cause.[15] Transmission rates are also related to poor hygiene, (especially among children),[18] in crowded households,[37] and in those with poor nutritional status.[17] Adults who have developed immunities might still carry certain organisms without exhibiting symptoms.[17] Thus, adults can become natural reservoirs of certain diseases.[17] While some agents (such as Shigella) only occur in primates, others (such as Giardia) may occur in a wide variety of animals.[17] ### Non-infectious[edit] There are a number of non-infectious causes of inflammation of the gastrointestinal tract.[1] Some of the more common include medications (like NSAIDs), certain foods such as lactose (in those who are intolerant), and gluten (in those with celiac disease). Crohn's disease is also a non-infectious source of (often severe) gastroenteritis.[1] Disease secondary to toxins may also occur. Some food-related conditions associated with nausea, vomiting, and diarrhea include: ciguatera poisoning due to consumption of contaminated predatory fish, scombroid associated with the consumption of certain types of spoiled fish, tetrodotoxin poisoning from the consumption of puffer fish among others, and botulism typically due to improperly preserved food.[38] In the United States, rates of emergency department use for noninfectious gastroenteritis dropped 30% from 2006 until 2011. Of the twenty most common conditions seen in the emergency department, rates of noninfectious gastroenteritis had the largest decrease in visits in that time period.[39] ## Pathophysiology[edit] Gastroenteritis is defined as vomiting or diarrhea due to inflammation of the small or large bowel, often due to infection.[17] The changes in the small bowel are typically noninflammatory, while the ones in the large bowel are inflammatory.[17] The number of pathogens required to cause an infection varies from as few as one (for Cryptosporidium) to as many as 108 (for Vibrio cholerae).[17] ## Diagnosis[edit] Gastroenteritis is typically diagnosed clinically, based on a person's signs and symptoms.[18] Determining the exact cause is usually not needed as it does not alter management of the condition.[15] However, stool cultures should be performed in those with blood in the stool, those who might have been exposed to food poisoning, and those who have recently traveled to the developing world.[13] It may also be appropriate in children younger than 5, old people, and those with poor immune function.[40] Diagnostic testing may also be done for surveillance.[18] As hypoglycemia occurs in approximately 10% of infants and young children, measuring serum glucose in this population is recommended.[23] Electrolytes and kidney function should also be checked when there is a concern about severe dehydration.[13] ### Dehydration[edit] A determination of whether or not the person has dehydration is an important part of the assessment, with dehydration typically divided into mild (3–5%), moderate (6–9%), and severe (≥10%) cases.[1] In children, the most accurate signs of moderate or severe dehydration are a prolonged capillary refill, poor skin turgor, and abnormal breathing.[23][41] Other useful findings (when used in combination) include sunken eyes, decreased activity, a lack of tears, and a dry mouth.[1] A normal urinary output and oral fluid intake is reassuring.[23] Laboratory testing is of little clinical benefit in determining the degree of dehydration.[1] Thus the use of urine testing or ultrasounds is generally not needed.[42] ### Differential diagnosis[edit] Other potential causes of signs and symptoms that mimic those seen in gastroenteritis that need to be ruled out include appendicitis, volvulus, inflammatory bowel disease, urinary tract infections, and diabetes mellitus.[13] Pancreatic insufficiency, short bowel syndrome, Whipple's disease, coeliac disease, and laxative abuse should also be considered.[43] The differential diagnosis can be complicated somewhat if the person exhibits only vomiting or diarrhea (rather than both).[1] Appendicitis may present with vomiting, abdominal pain, and a small amount of diarrhea in up to 33% of cases.[1] This is in contrast to the large amount of diarrhea that is typical of gastroenteritis.[1] Infections of the lungs or urinary tract in children may also cause vomiting or diarrhea.[1] Classical diabetic ketoacidosis (DKA) presents with abdominal pain, nausea, and vomiting, but without diarrhea.[1] One study found that 17% of children with DKA were initially diagnosed as having gastroenteritis.[1] ## Prevention[edit] Percentage of rotavirus tests with positive results, by surveillance week, United States, July 2000 – June 2009. ### Lifestyle[edit] A supply of easily accessible uncontaminated water and good sanitation practices are important for reducing rates of infection and clinically significant gastroenteritis.[17] Personal measures (such as hand washing with soap) have been found to decrease rates of gastroenteritis in both the developing and developed world by as much as 30%.[23] Alcohol-based gels may also be effective.[23] Food or drink that is thought to be contaminated should be avoided.[44] Breastfeeding is important, especially in places with poor hygiene, as is improvement of hygiene generally.[15] Breast milk reduces both the frequency of infections and their duration.[1] ### Vaccination[edit] Due to both its effectiveness and safety, in 2009 the World Health Organization recommended that the rotavirus vaccine be offered to all children globally.[25][45] Two commercial rotavirus vaccines exist and several more are in development.[45] In Africa and Asia these vaccines reduced severe disease among infants[45] and countries that have put in place national immunization programs have seen a decline in the rates and severity of disease.[46][47] This vaccine may also prevent illness in non-vaccinated children by reducing the number of circulating infections.[48] Since 2000, the implementation of a rotavirus vaccination program in the United States has substantially decreased the number of cases of diarrhea by as much as 80 percent.[49][50][51] The first dose of vaccine should be given to infants between 6 and 15 weeks of age.[25] The oral cholera vaccine has been found to be 50–60% effective over 2 years.[52] ## Management[edit] Gastroenteritis is usually an acute and self-limiting disease that does not require medication.[22] The preferred treatment in those with mild to moderate dehydration is oral rehydration therapy (ORT).[24] For children at risk of dehydration from vomiting, taking a single dose of the anti vomiting medication metoclopramide or ondansetron, may be helpful,[53] and butylscopolamine is useful in treating abdominal pain.[54] ### Rehydration[edit] The primary treatment of gastroenteritis in both children and adults is rehydration. This is preferably achieved by drinking rehydration solution, although intravenous delivery may be required if there is a decreased level of consciousness or if dehydration is severe.[55][56] Drinking replacement therapy products made with complex carbohydrates (i.e. those made from wheat or rice) may be superior to those based on simple sugars.[57] Drinks especially high in simple sugars, such as soft drinks and fruit juices, are not recommended in children under 5 years of age as they may increase diarrhea.[22] Plain water may be used if more specific ORT preparations are unavailable or the person is not willing to drink them.[22] A nasogastric tube can be used in young children to administer fluids if warranted.[13] In those who require intravenous fluids, one to four hours' worth is often sufficient.[58] ### Dietary[edit] It is recommended that breast-fed infants continue to be nursed in the usual fashion, and that formula-fed infants continue their formula immediately after rehydration with ORT.[59] Lactose-free or lactose-reduced formulas usually are not necessary.[59] Children should continue their usual diet during episodes of diarrhea with the exception that foods high in simple sugars should be avoided.[59] The BRAT diet (bananas, rice, applesauce, toast and tea) is no longer recommended, as it contains insufficient nutrients and has no benefit over normal feeding.[59] Some probiotics have been shown to be beneficial in reducing both the duration of illness and the frequency of stools.[60][61] They may also be useful in preventing and treating antibiotic associated diarrhea.[62] Fermented milk products (such as yogurt) are similarly beneficial.[63] Zinc supplementation appears to be effective in both treating and preventing diarrhea among children in the developing world.[64] ### Antiemetics[edit] Antiemetic medications may be helpful for treating vomiting in children. Ondansetron has some utility, with a single dose being associated with less need for intravenous fluids, fewer hospitalizations, and decreased vomiting.[53][65][66][67] Metoclopramide might also be helpful.[67] However, the use of ondansetron might possibly be linked to an increased rate of return to hospital in children.[68] The intravenous preparation of ondansetron may be given orally if clinical judgment warrants.[69] Dimenhydrinate, while reducing vomiting, does not appear to have a significant clinical benefit.[1] ### Antibiotics[edit] Antibiotics are not usually used for gastroenteritis, although they are sometimes recommended if symptoms are particularly severe[70] or if a susceptible bacterial cause is isolated or suspected.[71] If antibiotics are to be employed, a macrolide (such as azithromycin) is preferred over a fluoroquinolone due to higher rates of resistance to the latter.[19] Pseudomembranous colitis, usually caused by antibiotic use, is managed by discontinuing the causative agent and treating it with either metronidazole or vancomycin.[72] Bacteria and protozoans that are amenable to treatment include Shigella[73] Salmonella typhi,[74] and Giardia species.[36] In those with Giardia species or Entamoeba histolytica, tinidazole treatment is recommended and superior to metronidazole.[36][75] The World Health Organization (WHO) recommends the use of antibiotics in young children who have both bloody diarrhea and fever.[1] ### Antimotility agents[edit] Antimotility medication has a theoretical risk of causing complications, and although clinical experience has shown this to be unlikely,[43] these drugs are discouraged in people with bloody diarrhea or diarrhea that is complicated by fever.[76] Loperamide, an opioid analogue, is commonly used for the symptomatic treatment of diarrhea.[77] Loperamide is not recommended in children, however, as it may cross the immature blood–brain barrier and cause toxicity. Bismuth subsalicylate, an insoluble complex of trivalent bismuth and salicylate, can be used in mild to moderate cases,[43] but salicylate toxicity is theoretically possible.[1] ## Epidemiology[edit] Deaths due to diarrhoeal diseases per million persons in 2012 0–2 3–10 11–18 19–30 31–46 47–80 81–221 222–450 451–606 607–1799 Disability-adjusted life year for diarrhea per 100,000 inhabitants in 2004. no data ≤less 500 500–1000 1000–1500 1500–2000 2000–2500 2500–3000 3000–3500 3500–4000 4000–4500 4500–5000 5000–6000 ≥6000 It is estimated that there were two billion cases of gastroenteritis that resulted in 1.3 million deaths globally in 2015.[6][7] Children and those in the developing world are most commonly affected.[15] As of 2011, in those less than five, there were about 1.7 billion cases resulting in 0.7 million deaths,[16] with most of these occurring in the world's poorest nations.[17] More than 450,000 of these fatalities are due to rotavirus in children under 5 years of age.[10][78] Cholera causes about three to five million cases of disease and kills approximately 100,000 people yearly.[31] In the developing world, children less than two years of age frequently get six or more infections a year that result in significant gastroenteritis.[17] It is less common in adults, partly due to the development of acquired immunity.[18] In 1980, gastroenteritis from all causes caused 4.6 million deaths in children, with the majority occurring in the developing world.[72] Death rates were reduced significantly (to approximately 1.5 million deaths annually) by the year 2000, largely due to the introduction and widespread use of oral rehydration therapy.[79] In the US, infections causing gastroenteritis are the second most common infection (after the common cold), and they result in between 200 and 375 million cases of acute diarrhea[17][18] and approximately ten thousand deaths annually,[17] with 150 to 300 of these deaths in children less than five years of age.[1] ## History[edit] The first usage of "gastroenteritis" was in 1825.[80] Before this time it was commonly known as typhoid fever or "cholera morbus", among others, or less specifically as "griping of the guts", "surfeit", "flux", "colic", "bowel complaint", or any one of a number of other archaic names for acute diarrhea.[81] Cholera morbus is a historical term that was used to refer to gastroenteritis rather than specifically cholera.[82] ## Society and culture[edit] Gastroenteritis is associated with many colloquial names, including "Montezuma's revenge", "Delhi belly", "la turista", and "back door sprint", among others.[17] It has played a role in many military campaigns and is believed to be the origin of the term "no guts no glory".[17] Gastroenteritis is the main reason for 3.7 million visits to physicians a year in the United States[1] and 3 million visits in France.[83] In the United States gastroenteritis as a whole is believed to result in costs of US$23 billion per year[84] with that due to rotavirus alone resulting in estimated costs of US$1 billion a year.[1] ## Research[edit] There are a number of vaccines against gastroenteritis in development. For example, vaccines against Shigella and enterotoxigenic Escherichia coli (ETEC) are two of the leading bacterial causes of gastroenteritis worldwide.[85][86] ## Other animals[edit] Many of the same agents cause gastroenteritis in cats and dogs as in humans. The most common organisms are Campylobacter, Clostridium difficile, Clostridium perfringens, and Salmonella.[87] A large number of toxic plants may also cause symptoms.[88] Some agents are more specific to a certain species. Transmissible gastroenteritis coronavirus (TGEV) occurs in pigs resulting in vomiting, diarrhea, and dehydration.[89] It is believed to be introduced to pigs by wild birds and there is no specific treatment available.[90] It is not transmissible to humans.[91] ## References[edit] 1. ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa ab ac ad Singh, Amandeep (July 2010). "Pediatric Emergency Medicine Practice Acute Gastroenteritis — An Update". Pediatric Emergency Medicine Practice. 7 (7). 2. ^ a b c d e f g h i j k l m n o p q Ciccarelli, S; Stolfi, I; Caramia, G (29 October 2013). "Management strategies in the treatment of neonatal and pediatric gastroenteritis". Infection and Drug Resistance. 6: 133–61. doi:10.2147/IDR.S12718. PMC 3815002. PMID 24194646. 3. ^ a b Ferri's Clinical Advisor 2015: 5 Books in 1. Elsevier Health Sciences. 2014. p. 479. ISBN 978-0-323-08430-7. Archived from the original on 2017-09-08. 4. ^ a b c d A. Helms, Richard (2006). Textbook of therapeutics : drug and disease management (8. ed.). Philadelphia [u.a.]: Lippincott Williams & Wilkins. p. 2003. ISBN 978-0-7817-5734-8. Archived from the original on 2017-09-08. 5. ^ Caterino, Jeffrey M.; Kahan, Scott (2003). In a Page: Emergency medicine. Lippincott Williams & Wilkins. p. 293. ISBN 978-1-4051-0357-2. Archived from the original on 2017-09-08. 6. ^ a b c GBD 2015 Disease and Injury Incidence and Prevalence, Collaborators. (8 October 2016). "Global, regional, and national incidence, prevalence, and years lived with disability for 310 diseases and injuries, 1990–2015: a systematic analysis for the Global Burden of Disease Study 2015". Lancet. 388 (10053): 1545–1602. doi:10.1016/S0140-6736(16)31678-6. PMC 5055577. PMID 27733282. 7. ^ a b c GBD 2015 Mortality and Causes of Death, Collaborators. (8 October 2016). "Global, regional, and national life expectancy, all-cause mortality, and cause-specific mortality for 249 causes of death, 1980–2015: a systematic analysis for the Global Burden of Disease Study 2015". Lancet. 388 (10053): 1459–1544. doi:10.1016/s0140-6736(16)31012-1. PMC 5388903. PMID 27733281. 8. ^ a b Schlossberg, David (2015). Clinical infectious disease (Second ed.). p. 334. ISBN 978-1-107-03891-2. Archived from the original on 2017-09-08. 9. ^ Shors, Teri (2013). The microbial challenge : a public health perspective (3rd ed.). Burlington, MA: Jones & Bartlett Learning. p. 457. ISBN 978-1-4496-7333-8. Archived from the original on 2017-09-08. 10. ^ a b c Tate JE, Burton AH, Boschi-Pinto C, Steele AD, Duque J, Parashar UD (February 2012). "2008 estimate of worldwide rotavirus-associated mortality in children younger than 5 years before the introduction of universal rotavirus vaccination programmes: a systematic review and meta-analysis". The Lancet Infectious Diseases. 12 (2): 136–41. doi:10.1016/S1473-3099(11)70253-5. PMID 22030330. 11. ^ Marshall JA, Bruggink LD (April 2011). "The dynamics of norovirus outbreak epidemics: recent insights". International Journal of Environmental Research and Public Health. 8 (4): 1141–9. doi:10.3390/ijerph8041141. PMC 3118882. PMID 21695033. 12. ^ Man SM (December 2011). "The clinical importance of emerging Campylobacter species". Nature Reviews Gastroenterology & Hepatology. 8 (12): 669–85. doi:10.1038/nrgastro.2011.191. PMID 22025030. S2CID 24103030. 13. ^ a b c d e f g h i Webb, A; Starr, M (April 2005). "Acute gastroenteritis in children". Australian Family Physician. 34 (4): 227–31. PMID 15861741. 14. ^ Zollner-Schwetz, I; Krause, R (August 2015). "Therapy of acute gastroenteritis: role of antibiotics". Clinical Microbiology and Infection. 21 (8): 744–9. doi:10.1016/j.cmi.2015.03.002. PMID 25769427. 15. ^ a b c d e f g h i j Webber, Roger (2009). Communicable disease epidemiology and control : a global perspective (3rd ed.). Wallingford, Oxfordshire: Cabi. p. 79. ISBN 978-1-84593-504-7. Archived from the original on 2015-10-26. 16. ^ a b Walker, CL; Rudan, I; Liu, L; Nair, H; Theodoratou, E; Bhutta, ZA; O'Brien, KL; Campbell, H; Black, RE (Apr 20, 2013). "Global burden of childhood pneumonia and diarrhoea". Lancet. 381 (9875): 1405–16. doi:10.1016/S0140-6736(13)60222-6. PMC 7159282. PMID 23582727. 17. ^ a b c d e f g h i j k l m n o p q r s t u v Dolin, Raphael; Mandell, Gerald L.; Bennett, John E., eds. (2010). "Chapter 93". Mandell, Douglas, and Bennett's principles and practice of infectious diseases (7th ed.). Philadelphia: Churchill Livingstone/Elsevier. ISBN 978-0-443-06839-3. 18. ^ a b c d e f g h i j k l m n Eckardt AJ, Baumgart DC (January 2011). "Viral gastroenteritis in adults". Recent Patents on Anti-Infective Drug Discovery. 6 (1): 54–63. doi:10.2174/157489111794407877. PMID 21210762. 19. ^ a b c d e f Galanis, E (11 September 2007). "Campylobacter and bacterial gastroenteritis". Canadian Medical Association Journal. 177 (6): 570–1. doi:10.1503/cmaj.070660. PMC 1963361. PMID 17846438. 20. ^ a b Meloni, A; Locci, D; Frau, G; Masia, G; Nurchi, AM; Coppola, RC (October 2011). "Epidemiology and prevention of rotavirus infection: an underestimated issue?". Journal of Maternal-Fetal and Neonatal Medicine. 24 (Suppl 2): 48–51. doi:10.3109/14767058.2011.601920. PMID 21749188. S2CID 44379279. 21. ^ "Toolkit". DefeatDD. Archived from the original on 27 April 2012. Retrieved 3 May 2012. 22. ^ a b c d "Management of acute diarrhoea and vomiting due to gastoenteritis in children under 5". National Institute of Clinical Excellence. April 2009. Archived from the original on 2009-08-02. Retrieved 2009-06-11. 23. ^ a b c d e f g h Tintinalli, Judith E. (2010). Emergency Medicine: A Comprehensive Study Guide (Emergency Medicine (Tintinalli)). New York: McGraw-Hill Companies. pp. 830–839. ISBN 978-0-07-148480-0. 24. ^ a b c d Elliott, EJ (6 January 2007). "Acute gastroenteritis in children". The BMJ. 334 (7583): 35–40. doi:10.1136/bmj.39036.406169.80. PMC 1764079. PMID 17204802. 25. ^ a b c d Szajewska, H; Dziechciarz, P (January 2010). "Gastrointestinal infections in the pediatric population". Current Opinion in Gastroenterology. 26 (1): 36–44. doi:10.1097/MOG.0b013e328333d799. PMID 19887936. S2CID 5083478. 26. ^ Dennehy PH (January 2011). "Viral gastroenteritis in children". The Pediatric Infectious Disease Journal. 30 (1): 63–4. doi:10.1097/INF.0b013e3182059102. PMID 21173676. 27. ^ Desselberger U, Huppertz HI (January 2011). "Immune responses to rotavirus infection and vaccination and associated correlates of protection". The Journal of Infectious Diseases. 203 (2): 188–95. doi:10.1093/infdis/jiq031. PMC 3071058. PMID 21288818. 28. ^ Ahmed, Sharia M; Hall, Aron J; Robinson, Anne E; Verhoef, Linda; Premkumar, Prasanna; Parashar, Umesh D; Koopmans, Marion; Lopman, Benjamin A (Aug 2014). "Global prevalence of norovirus in cases of gastroenteritis: a systematic review and meta-analysis". The Lancet Infectious Diseases. 14 (8): 725–30. doi:10.1016/S1473-3099(14)70767-4. PMID 24981041. 29. ^ Baumgart, Alexander J. Eckardt and Daniel C. (2010-12-31). "Viral Gastroenteritis in Adults". Recent Patents on Anti-Infective Drug Discovery. Retrieved 2020-12-22. 30. ^ Nyachuba, DG (May 2010). "Foodborne illness: is it on the rise?". Nutrition Reviews. 68 (5): 257–69. doi:10.1111/j.1753-4887.2010.00286.x. PMID 20500787. 31. ^ a b Charles, RC; Ryan, ET (October 2011). "Cholera in the 21st century". Current Opinion in Infectious Diseases. 24 (5): 472–7. doi:10.1097/QCO.0b013e32834a88af. PMID 21799407. S2CID 6907842. 32. ^ Moudgal, V; Sobel, JD (February 2012). "Clostridium difficile colitis: a review". Hospital Practice. 40 (1): 139–48. doi:10.3810/hp.2012.02.954. PMID 22406889. S2CID 23015631. 33. ^ Lin, Z; Kotler, DP; Schlievert, PM; Sordillo, EM (May 2010). "Staphylococcal enterocolitis: forgotten but not gone?". Digestive Diseases and Sciences. 55 (5): 1200–7. doi:10.1007/s10620-009-0886-1. PMID 19609675. S2CID 2023416. 34. ^ a b c "Persistent Travelers' Diarrhea". United States Centers for Disease Control and Prevention. 10 July 2015. Archived from the original on 3 January 2016. Retrieved 9 January 2016. "Although most cases of travelers' diarrhea are acute and self-limited, a certain percentage of travelers will develop persistent (>14 days) gastrointestinal symptoms ... Parasites as a group are the pathogens most likely to be isolated from patients with persistent diarrhea" 35. ^ a b Leonard, J; Marshall, JK; Moayyedi, P (September 2007). "Systematic review of the risk of enteric infection in patients taking acid suppression". The American Journal of Gastroenterology. 102 (9): 2047–56, quiz 2057. PMID 17509031. 36. ^ a b c d Escobedo, AA; Almirall, P; Robertson, LJ; Franco, RM; Hanevik, K; Mørch, K; Cimerman, S (October 2010). "Giardiasis: the ever-present threat of a neglected disease". Infectious Disorders Drug Targets. 10 (5): 329–48. doi:10.2174/187152610793180821. PMID 20701575. 37. ^ Grimwood, K; Forbes, DA (December 2009). "Acute and persistent diarrhea". Pediatric Clinics of North America. 56 (6): 1343–61. doi:10.1016/j.pcl.2009.09.004. PMID 19962025. 38. ^ Lawrence, DT; Dobmeier, SG; Bechtel, LK; Holstege, CP (May 2007). "Food poisoning". Emergency Medicine Clinics of North America. 25 (2): 357–73, abstract ix. doi:10.1016/j.emc.2007.02.014. PMID 17482025. 39. ^ Skiner HG, Blanchard J, Elixhauser A (September 2014). "Trends in Emergency Department Visits, 2006–2011". HCUP Statistical Brief #179. Rockville, MD: Agency for Healthcare Research and Quality. Archived from the original on 2014-12-24. 40. ^ Shane, Andi L; Mody, Rajal K; Crump, John A; Tarr, Phillip I; Steiner, Theodore S; Kotloff, Karen; Langley, Joanne M; Wanke, Christine; Warren, Cirle Alcantara; Cheng, Allen C; Cantey, Joseph; Pickering, Larry K (19 October 2017). "2017 Infectious Diseases Society of America Clinical Practice Guidelines for the Diagnosis and Management of Infectious Diarrhea". Clinical Infectious Diseases. 65 (12): e45–e80. doi:10.1093/cid/cix669. PMC 5850553. PMID 29053792. 41. ^ Steiner, MJ; DeWalt, DA; Byerley JS (9 June 2004). "Is this child dehydrated?". JAMA: The Journal of the American Medical Association. 291 (22): 2746–54. doi:10.1001/jama.291.22.2746. PMID 15187057. 42. ^ Freedman, SB; Vandermeer, B; Milne, A; Hartling, L; Pediatric Emergency Research Canada Gastroenteritis Study, Group (April 2015). "Diagnosing clinically significant dehydration in children with acute gastroenteritis using noninvasive methods: a meta-analysis". The Journal of Pediatrics. 166 (4): 908–916.e6. doi:10.1016/j.jpeds.2014.12.029. PMID 25641247. 43. ^ a b c Warrell D.A.; Cox T.M.; Firth J.D.; Benz E.J., eds. (2003). The Oxford Textbook of Medicine (4th ed.). Oxford University Press. ISBN 978-0-19-262922-7. Archived from the original on 2012-03-21. 44. ^ "Viral Gastroenteritis". Center for Disease Control and Prevention. February 2011. Archived from the original on 24 April 2012. Retrieved 16 April 2012. 45. ^ a b c World Health Organization (December 2009). "Rotavirus vaccines: an update" (PDF). Weekly Epidemiological Record. 84 (50): 533–540. PMID 20034143. Archived (PDF) from the original on 9 July 2012. Retrieved 10 May 2012. 46. ^ Giaquinto C, Dominiak-Felden G, Van Damme P, Myint TT, Maldonado YA, Spoulou V, Mast TC, Staat MA (July 2011). "Summary of effectiveness and impact of rotavirus vaccination with the oral pentavalent rotavirus vaccine: a systematic review of the experience in industrialized countries". Human Vaccines. 7 (7): 734–748. doi:10.4161/hv.7.7.15511. PMID 21734466. S2CID 23996836. Archived from the original on 17 February 2013. Retrieved 10 May 2012. 47. ^ Jiang, V; Jiang B; Tate J; Parashar UD; Patel MM (July 2010). "Performance of rotavirus vaccines in developed and developing countries". Human Vaccines. 6 (7): 532–542. doi:10.4161/hv.6.7.11278. PMC 3322519. PMID 20622508. Archived from the original on 17 February 2013. Retrieved 10 May 2012. 48. ^ Patel, MM; Steele, D; Gentsch, JR; Wecker, J; Glass, RI; Parashar, UD (January 2011). "Real-world impact of rotavirus vaccination". The Pediatric Infectious Disease Journal. 30 (1 Suppl): S1–5. doi:10.1097/INF.0b013e3181fefa1f. PMID 21183833. 49. ^ US Center for Disease Control and Prevention (2008). "Delayed onset and diminished magnitude of rotavirus activity—United States, November 2007 – May 2008". Morbidity and Mortality Weekly Report. 57 (25): 697–700. PMID 18583958. Archived from the original on 8 June 2012. Retrieved 3 May 2012. 50. ^ Centers for Disease Control Prevention (CDC) (October 2009). "Reduction in rotavirus after vaccine introduction—United States, 2000–2009". Morbidity and Mortality Weekly Report. 58 (41): 1146–9. PMID 19847149. Archived from the original on 2009-10-31. 51. ^ Tate, JE; Cortese, MM; Payne, DC; Curns, AT; Yen, C; Esposito, DH; Cortes, JE; Lopman, BA; Patel, MM; Gentsch, JR; Parashar, UD (January 2011). "Uptake, impact, and effectiveness of rotavirus vaccination in the United States: review of the first 3 years of postlicensure data". The Pediatric Infectious Disease Journal. 30 (1 Suppl): S56–60. doi:10.1097/INF.0b013e3181fefdc0. PMID 21183842. S2CID 20940659. 52. ^ Sinclair, D; Abba, K; Zaman, K; Qadri, F; Graves, PM (16 March 2011). Sinclair, David (ed.). "Oral vaccines for preventing cholera". Cochrane Database of Systematic Reviews (3): CD008603. doi:10.1002/14651858.CD008603.pub2. PMC 6532691. PMID 21412922. 53. ^ a b Fedorowicz, Zbys; Jagannath, Vanitha A.; Carter, Ben (2011-09-07). "Antiemetics for reducing vomiting related to acute gastroenteritis in children and adolescents". Cochrane Database of Systematic Reviews. 130 (9): 270. doi:10.1002/14651858.CD005506.pub5. ISSN 1469-493X. PMC 6768985. PMID 21901699. 54. ^ Tytgat GN (2007). "Hyoscine butylbromide: a review of its use in the treatment of abdominal cramping and pain". Drugs. 67 (9): 1343–57. doi:10.2165/00003495-200767090-00007. PMID 17547475. S2CID 46971321. 55. ^ "BestBets: Fluid Treatment of Gastroenteritis in Adults". Archived from the original on 2009-02-12. 56. ^ Canavan A, Arant BS (October 2009). "Diagnosis and management of dehydration in children". American Family Physician. 80 (7): 692–6. PMID 19817339. 57. ^ Gregorio, GV; Gonzales, ML; Dans, LF; Martinez, EG (13 December 2016). "Polymer-based oral rehydration solution for treating acute watery diarrhoea". Cochrane Database of Systematic Reviews. 12: CD006519. doi:10.1002/14651858.CD006519.pub3. PMC 5450881. PMID 27959472. 58. ^ Toaimah, FH; Mohammad, HM (February 2016). "Rapid Intravenous Rehydration Therapy in Children With Acute Gastroenteritis: A Systematic Review". Pediatric Emergency Care. 32 (2): 131–5. doi:10.1097/pec.0000000000000708. PMID 26835574. S2CID 20509810. 59. ^ a b c d King CK, Glass R, Bresee JS, Duggan C (November 2003). "Managing acute gastroenteritis among children: oral rehydration, maintenance, and nutritional therapy". Morbidity and Mortality Weekly Report: Recommendations and Reports. 52 (RR-16): 1–16. PMID 14627948. Archived from the original on 2014-10-28. 60. ^ Allen SJ, Martinez EG, Gregorio GV, Dans LF (2010). Allen SJ (ed.). "Probiotics for treating acute infectious diarrhoea". Cochrane Database of Systematic Reviews. 11 (11): CD003048. doi:10.1002/14651858.CD003048.pub3. PMC 6532699. PMID 21069673. 61. ^ Feizizadeh, S; Salehi-Abargouei, A; Akbari, V (Jul 2014). "Efficacy and safety of Saccharomyces boulardii for acute diarrhea". Pediatrics. 134 (1): e176–91. doi:10.1542/peds.2013-3950. PMID 24958586. S2CID 15933542. 62. ^ Hempel, S; Newberry, SJ; Maher, AR; Wang, Z; Miles, JN; Shanman, R; Johnsen, B; Shekelle, PG (9 May 2012). "Probiotics for the prevention and treatment of antibiotic-associated diarrhea: a systematic review and meta-analysis". JAMA: The Journal of the American Medical Association. 307 (18): 1959–69. doi:10.1001/jama.2012.3507. PMID 22570464. 63. ^ Mackway-Jones, Kevin (June 2007). "Does yogurt decrease acute diarrhoeal symptoms in children with acute gastroenteritis?". BestBets. Archived from the original on 2009-02-12. 64. ^ Telmesani, AM (May 2010). "Oral rehydration salts, zinc supplement and rota virus vaccine in the management of childhood acute diarrhea". Journal of Family and Community Medicine. 17 (2): 79–82. doi:10.4103/1319-1683.71988. PMC 3045093. PMID 21359029. 65. ^ DeCamp LR, Byerley JS, Doshi N, Steiner MJ (September 2008). "Use of antiemetic agents in acute gastroenteritis: a systematic review and meta-analysis". Archives of Pediatrics & Adolescent Medicine. 162 (9): 858–65. doi:10.1001/archpedi.162.9.858. PMID 18762604. 66. ^ Mehta S, Goldman RD (2006). "Ondansetron for acute gastroenteritis in children". Canadian Family Physician. 52 (11): 1397–8. PMC 1783696. PMID 17279195. 67. ^ a b Fedorowicz, Z; Jagannath, VA; Carter, B (7 September 2011). Fedorowicz, Zbys (ed.). "Antiemetics for reducing vomiting related to acute gastroenteritis in children and adolescents". Cochrane Database of Systematic Reviews. 9 (9): CD005506. doi:10.1002/14651858.CD005506.pub5. PMC 6768985. PMID 21901699. 68. ^ Sturm JJ, Hirsh DA, Schweickert A, Massey R, Simon HK (May 2010). "Ondansetron use in the pediatric emergency department and effects on hospitalization and return rates: are we masking alternative diagnoses?". Annals of Emergency Medicine. 55 (5): 415–22. doi:10.1016/j.annemergmed.2009.11.011. PMID 20031265. 69. ^ "Ondansetron". Lexi-Comp. May 2011. Archived from the original on 2012-06-06. 70. ^ Traa BS, Walker CL, Munos M, Black RE (April 2010). "Antibiotics for the treatment of dysentery in children". International Journal of Epidemiology. 39 (Suppl 1): i70–4. doi:10.1093/ije/dyq024. PMC 2845863. PMID 20348130. 71. ^ Grimwood K, Forbes DA (December 2009). "Acute and persistent diarrhea". Pediatric Clinics of North America. 56 (6): 1343–61. doi:10.1016/j.pcl.2009.09.004. PMID 19962025. 72. ^ a b Mandell, Gerald L.; Bennett, John E.; Dolin, Raphael (2004). Mandell's Principles and Practices of Infection Diseases (6th ed.). Churchill Livingstone. ISBN 978-0-443-06643-6. Archived from the original on 2013-10-18. Retrieved 2006-04-22. 73. ^ Christopher, PR; David, KV; John, SM; Sankarapandian, V (4 August 2010). Christopher, Prince RH (ed.). "Antibiotic therapy for Shigella dysentery". Cochrane Database of Systematic Reviews (8): CD006784. doi:10.1002/14651858.CD006784.pub4. PMC 6532574. PMID 20687081. 74. ^ Effa, EE; Lassi, ZS; Critchley, JA; Garner, P; Sinclair, D; Olliaro, PL; Bhutta, ZA (5 October 2011). Bhutta, Zulfiqar A (ed.). "Fluoroquinolones for treating typhoid and paratyphoid fever (enteric fever)". Cochrane Database of Systematic Reviews (10): CD004530. doi:10.1002/14651858.CD004530.pub4. PMC 6532575. PMID 21975746. 75. ^ Gonzales, Maria Liza M.; Dans, Leonila F.; Sio-Aguilar, Juliet (9 January 2019). "Antiamoebic drugs for treating amoebic colitis". The Cochrane Database of Systematic Reviews. 1: CD006085. doi:10.1002/14651858.CD006085.pub3. ISSN 1469-493X. PMC 6326239. PMID 30624763. 76. ^ Harrison's Principles of Internal Medicine (16th ed.). McGraw-Hill. 2005. ISBN 978-0-07-140235-4. Archived from the original on 2012-08-04. Retrieved 2006-04-22. 77. ^ Feldman, Mark; Friedman, Lawrence S.; Sleisenger, Marvin H. (2002). Sleisenger & Fordtran's Gastrointestinal and Liver Disease (7th ed.). Saunders. ISBN 978-0-7216-8973-9. 78. ^ World Health Organization (November 2008). "Global networks for surveillance of rotavirus gastroenteritis, 2001–2008" (PDF). Weekly Epidemiological Record. 83 (47): 421–428. PMID 19024780. Archived (PDF) from the original on 9 July 2012. Retrieved 10 May 2012. 79. ^ Victora CG, Bryce J, Fontaine O, Monasch R (2000). "Reducing deaths from diarrhoea through oral rehydration therapy". Bulletin of the World Health Organization. 78 (10): 1246–55. doi:10.1590/S0042-96862000001000010 (inactive 2020-12-26). PMC 2560623. PMID 11100619.CS1 maint: DOI inactive as of December 2020 (link) 80. ^ "Gastroenteritis". Oxford English Dictionary 2011. Archived from the original on January 11, 2008. Retrieved January 15, 2012. 81. ^ Rudy's List of Archaic Medical Terms Archived 2007-07-09 at the Wayback Machine 82. ^ Charles E. Rosenberg (2009). The Cholera Years the United States in 1832, 1849, and 1866. Chicago: University of Chicago Press. p. 74. ISBN 978-0-226-72676-2. Archived from the original on 2015-11-09. 83. ^ Flahault, A; Hanslik, T (November 2010). "[Epidemiology of viral gastroenteritis in France and Europe]". Bulletin de l'Académie Nationale de Médecine. 194 (8): 1415–24, discussion 1424–5. doi:10.1016/S0001-4079(19)32172-7. PMID 22046706. 84. ^ Skolnik, Neil S.; Albert, Ross H., eds. (2008). Essential infectious disease topics for primary care. Totowa, NJ: Humana Press. p. 66. ISBN 978-1-58829-520-0. Archived from the original on 2015-11-28. 85. ^ World Health Organization. "Enterotoxigenic Escherichia coli (ETEC)". Diarrhoeal Diseases. Archived from the original on 15 May 2012. Retrieved 3 May 2012. 86. ^ World Health Organization. "Shigellosis". Diarrhoeal Diseases. Archived from the original on 15 December 2008. Retrieved 3 May 2012. 87. ^ Weese, JS (March 2011). "Bacterial enteritis in dogs and cats: diagnosis, therapy, and zoonotic potential". Veterinary Clinics of North America: Small Animal Practice. 41 (2): 287–309. doi:10.1016/j.cvsm.2010.12.005. PMID 21486637. 88. ^ Rousseaux, Wanda Haschek, Matthew Wallig, Colin (2009). Fundamentals of toxicologic pathology (2nd ed.). London: Academic. p. 182. ISBN 978-0-12-370469-6. Archived from the original on 2016-05-07. 89. ^ MacLachlan, N. James; Dubovi, Edward J., eds. (2009). Fenner's veterinary virology (4th ed.). Amsterdam: Elsevier Academic Press. p. 399. ISBN 978-0-12-375158-4. Archived from the original on 2015-11-25. 90. ^ Fox, James G.; et al., eds. (2002). Laboratory animal medicine (2nd ed.). Amsterdam: Academic Press. p. 649. ISBN 978-0-12-263951-7. Archived from the original on 2015-11-28. 91. ^ Zimmerman, Jeffrey; Karriker, Locke; Ramirez, Alejandro; Kent Schwartz; Gregory Stevenson (15 May 2012). Diseases of Swine (10th ed.). Chichester, West Sussex: John Wiley & Sons. p. 504. ISBN 978-0-8138-2267-9. Archived from the original on 28 November 2015. ### Notes[edit] * Dolin, Raphael; Mandell, Gerald L.; Bennett, John E., eds. (2010). Mandell, Douglas, and Bennett's principles and practice of infectious diseases (7th ed.). Philadelphia: Churchill Livingstone/Elsevier. ISBN 978-0-443-06839-3. ## External links[edit] * Medicine portal * Viruses portal * Gastroenteritis at Curlie * Diarrhoea and Vomiting Caused by Gastroenteritis: Diagnosis, Assessment and Management in Children Younger than 5 Years – NICE Clinical Guidelines, No. 84. * "Gastroenteritis". MedlinePlus. U.S. National Library of Medicine. Classification D * ICD-10: A02.0, A08, A09, J10.8, J11.8, K52 * ICD-9-CM: 008.8 009.0, 009.1, 558 * MeSH: D005759 * DiseasesDB: 30726 External resources * MedlinePlus: 000252 * eMedicine: emerg/213 * v * t * e Diseases of the digestive system Upper GI tract Esophagus * Esophagitis * Candidal * Eosinophilic * Herpetiform * Rupture * Boerhaave syndrome * Mallory–Weiss syndrome * UES * Zenker's diverticulum * LES * Barrett's esophagus * Esophageal motility disorder * Nutcracker esophagus * Achalasia * Diffuse esophageal spasm * Gastroesophageal reflux disease (GERD) * Laryngopharyngeal reflux (LPR) * Esophageal stricture * Megaesophagus * Esophageal intramural pseudodiverticulosis Stomach * Gastritis * Atrophic * Ménétrier's disease * Gastroenteritis * Peptic (gastric) ulcer * Cushing ulcer * Dieulafoy's lesion * Dyspepsia * Pyloric stenosis * Achlorhydria * Gastroparesis * Gastroptosis * Portal hypertensive gastropathy * Gastric antral vascular ectasia * Gastric dumping syndrome * Gastric volvulus * Buried bumper syndrome * Gastrinoma * Zollinger–Ellison syndrome Lower GI tract Enteropathy Small intestine (Duodenum/Jejunum/Ileum) * Enteritis * Duodenitis * Jejunitis * Ileitis * Peptic (duodenal) ulcer * Curling's ulcer * Malabsorption: Coeliac * Tropical sprue * Blind loop syndrome * Small bowel bacterial overgrowth syndrome * Whipple's * Short bowel syndrome * Steatorrhea * Milroy disease * Bile acid malabsorption Large intestine (Appendix/Colon) * Appendicitis * Colitis * Pseudomembranous * Ulcerative * Ischemic * Microscopic * Collagenous * Lymphocytic * Functional colonic disease * IBS * Intestinal pseudoobstruction / Ogilvie syndrome * Megacolon / Toxic megacolon * Diverticulitis/Diverticulosis/SCAD Large and/or small * Enterocolitis * Necrotizing * Gastroenterocolitis * IBD * Crohn's disease * Vascular: Abdominal angina * Mesenteric ischemia * Angiodysplasia * Bowel obstruction: Ileus * Intussusception * Volvulus * Fecal impaction * Constipation * Diarrhea * Infectious * Intestinal adhesions Rectum * Proctitis * Radiation proctitis * Proctalgia fugax * Rectal prolapse * Anismus Anal canal * Anal fissure/Anal fistula * Anal abscess * Hemorrhoid * Anal dysplasia * Pruritus ani GI bleeding * Blood in stool * Upper * Hematemesis * Melena * Lower * Hematochezia Accessory Liver * Hepatitis * Viral hepatitis * Autoimmune hepatitis * Alcoholic hepatitis * Cirrhosis * PBC * Fatty liver * NASH * Vascular * Budd–Chiari syndrome * Hepatic veno-occlusive disease * Portal hypertension * Nutmeg liver * Alcoholic liver disease * Liver failure * Hepatic encephalopathy * Acute liver failure * Liver abscess * Pyogenic * Amoebic * Hepatorenal syndrome * Peliosis hepatis * Metabolic disorders * Wilson's disease * Hemochromatosis Gallbladder * Cholecystitis * Gallstone / Cholelithiasis * Cholesterolosis * Adenomyomatosis * Postcholecystectomy syndrome * Porcelain gallbladder Bile duct/ Other biliary tree * Cholangitis * Primary sclerosing cholangitis * Secondary sclerosing cholangitis * Ascending * Cholestasis/Mirizzi's syndrome * Biliary fistula * Haemobilia * Common bile duct * Choledocholithiasis * Biliary dyskinesia * Sphincter of Oddi dysfunction Pancreatic * Pancreatitis * Acute * Chronic * Hereditary * Pancreatic abscess * Pancreatic pseudocyst * Exocrine pancreatic insufficiency * Pancreatic fistula Other Hernia * Diaphragmatic * Congenital * Hiatus * Inguinal * Indirect * Direct * Umbilical * Femoral * Obturator * Spigelian * Lumbar * Petit's * Grynfeltt-Lesshaft * Undefined location * Incisional * Internal hernia * Richter's Peritoneal * Peritonitis * Spontaneous bacterial peritonitis * Hemoperitoneum * Pneumoperitoneum * v * t * e Infectious diseases – viral systemic diseases Oncovirus DNA virus HBV Hepatocellular carcinoma HPV Cervical cancer Anal cancer Penile cancer Vulvar cancer Vaginal cancer Oropharyngeal cancer KSHV Kaposi's sarcoma EBV Nasopharyngeal carcinoma Burkitt's lymphoma Hodgkin lymphoma Follicular dendritic cell sarcoma Extranodal NK/T-cell lymphoma, nasal type MCPyV Merkel-cell carcinoma RNA virus HCV Hepatocellular carcinoma Splenic marginal zone lymphoma HTLV-I Adult T-cell leukemia/lymphoma Immune disorders * HIV * AIDS Central nervous system Encephalitis/ meningitis DNA virus Human polyomavirus 2 Progressive multifocal leukoencephalopathy RNA virus MeV Subacute sclerosing panencephalitis LCV Lymphocytic choriomeningitis Arbovirus encephalitis Orthomyxoviridae (probable) Encephalitis lethargica RV Rabies Chandipura vesiculovirus Herpesviral meningitis Ramsay Hunt syndrome type 2 Myelitis * Poliovirus * Poliomyelitis * Post-polio syndrome * HTLV-I * Tropical spastic paraparesis Eye * Cytomegalovirus * Cytomegalovirus retinitis * HSV * Herpes of the eye Cardiovascular * CBV * Pericarditis * Myocarditis Respiratory system/ acute viral nasopharyngitis/ viral pneumonia DNA virus * Epstein–Barr virus * EBV infection/Infectious mononucleosis * Cytomegalovirus RNA virus * IV: Human coronavirus 229E/NL63/HKU1/OC43 * Common cold * MERS coronavirus * Middle East respiratory syndrome * SARS coronavirus * Severe acute respiratory syndrome * SARS coronavirus 2 * Coronavirus disease 2019 * V, Orthomyxoviridae: Influenza virus A/B/C/D * Influenza/Avian influenza * V, Paramyxoviridae: Human parainfluenza viruses * Parainfluenza * Human orthopneumovirus * hMPV Human digestive system Pharynx/Esophagus * MuV * Mumps * Cytomegalovirus * Cytomegalovirus esophagitis Gastroenteritis/ diarrhea DNA virus Adenovirus Adenovirus infection RNA virus Rotavirus Norovirus Astrovirus Coronavirus Hepatitis DNA virus HBV (B) RNA virus CBV HAV (A) HCV (C) HDV (D) HEV (E) HGV (G) Pancreatitis * CBV Urogenital * BK virus * MuV * Mumps [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-aminobutyric 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	Gastroenteritis	c0017160	26,405	wikipedia	https://en.wikipedia.org/wiki/Gastroenteritis	2021-01-18T18:40:20	{"mesh": ["D005759"], "umls": ["C0017160"], "icd-9": ["558", "008.8", "009.1", "009.0"], "wikidata": ["Q156103"]}
Coffin–Siris syndrome Other namesDwarfism-Onychodysplasia, Fifth Digit Syndrome, Mental Retardation with Hypoplastic 5th Fingernails and Toenails, Short Stature-Onychodysplasia Coffin–Siris syndrome is inherited in an autosomal dominant manner Coffin–Siris Syndrome is a rare genetic disorder that causes developmental delays and absent fifth finger and toe nails. There had been 31 reported cases by 1991.[1] The number of occurrences since then has grown and is now reported to be around 80.[2] The differential includes Nicolaides–Baraitser syndrome.[3] ## Contents * 1 Presentation * 2 Causes * 3 Diagnosis * 4 Treatment * 5 References * 6 External links ## Presentation[edit] * mild to severe intellectual disability,[4][5] also called "developmental disability"[6] * short fifth digits with hypoplastic or absent nails * low birth weight * feeding difficulties upon birth * frequent respiratory infections during infancy * hypotonia * joint laxity * delayed bone age * microcephaly * coarse facial features, including wide nose, wide mouth, and thick eyebrows and lashes ## Causes[edit] Autosomal dominant inheritance is the most likely, usually by de novo mutation. This syndrome has been associated with mutations in the ARID1B gene.[7] Mutations in SOX11 are associated to this syndrome.[8] A second gene that has been associated with this syndrome is the AT-rich interaction domain 2 (ARID2) gene.[9] The diagnosis is generally based on the presence of major and at least one minor clinical sign and can be confirmed by molecular genetic testing of the causative genes. Recent studies revealed that fifth finger nail/distal phalanx hypoplasia or aplasia is not a mandatory finding. ## Diagnosis[edit] This section is empty. You can help by adding to it. (January 2018) ## Treatment[edit] There is no known cure or standard for treatment. Treatment is based on symptoms and may include physical, occupational and speech therapy and educational services as well. ## References[edit] 1. ^ Levy P, Baraitser M (May 1991). "Coffin-Siris syndrome". Journal of Medical Genetics. 28 (5): 338–41. doi:10.1136/jmg.28.5.338. PMC 1016855. PMID 1865473. 2. ^ metrowebukmetro (2008-10-13). "Twisted spine girl back playing football". Metro. Retrieved 13 June 2015. 3. ^ Sousa SB, Abdul-Rahman OA, Bottani A, Cormier-Daire V, Fryer A, Gillessen-Kaesbach G, Horn D, Josifova D, Kuechler A, Lees M, MacDermot K, Magee A, Morice-Picard F, Rosser E, Sarkar A, Shannon N, Stolte-Dijkstra I, Verloes A, Wakeling E, Wilson L, Hennekam RC (August 2009). "Nicolaides-Baraitser syndrome: Delineation of the phenotype". American Journal of Medical Genetics. Part A. 149A (8): 1628–40. doi:10.1002/ajmg.a.32956. PMID 19606471. 4. ^ "Coffin-Siris syndrome". Genetics Home Reference. 8 June 2015. Retrieved 13 June 2015. 5. ^ Cha AE (4 June 2015). "NIH researchers sequence healthy volunteers' DNA and find they aren't so healthy after all". Washington Post. Retrieved 13 June 2015. 6. ^ "Greenville: A home of one's own - Ledger Transcript". Ledger Transcript. 2015-05-14. Retrieved 13 June 2015. 7. ^ Vals MA, Õiglane-Shlik E, Nõukas M, Shor R, Peet A, Kals M, Kivistik PA, Metspalu A, Õunap K (November 2014). "Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene". European Journal of Human Genetics. 22 (11): 1327–9. doi:10.1038/ejhg.2014.25. PMC 4200437. PMID 24569609. 8. ^ Tsurusaki Y, Koshimizu E, Ohashi H, Phadke S, Kou I, Shiina M, Suzuki T, Okamoto N, Imamura S, Yamashita M, Watanabe S, Yoshiura K, Kodera H, Miyatake S, Nakashima M, Saitsu H, Ogata K, Ikegawa S, Miyake N, Matsumoto N (June 2014). "De novo SOX11 mutations cause Coffin-Siris syndrome". Nature Communications. 5: 4011. Bibcode:2014NatCo...5.4011T. doi:10.1038/ncomms5011. PMID 24886874. 9. ^ Gazdagh G, Blyth M, Scurr I, Turnpenny PD, Mehta SG, Armstrong R, McEntagart M, Newbury-Ecob R, Tobias ES, Joss S (April 2018). "Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients" (PDF). European Journal of Medical Genetics. 62 (1): 27–34. doi:10.1016/j.ejmg.2018.04.014. PMID 29698805. ## External links[edit] * Coffin–Siris syndrome on Orphanet * synd/3426 at Who Named It? Classification D * ICD-10: Q87.1 * OMIM: 135900 * MeSH: C536436 * DiseasesDB: 32018 * SNOMED CT: 10007009 External resources * Orphanet: 1465 [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-aminobutyric 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	Coffin–Siris syndrome	c0265338	26,406	wikipedia	https://en.wikipedia.org/wiki/Coffin%E2%80%93Siris_syndrome	2021-01-18T18:47:23	{"gard": ["6124"], "mesh": ["C536436"], "umls": ["C0265338"], "orphanet": ["1465"], "wikidata": ["Q2348105"]}
Achard–Thiers syndrome SpecialtyEndocrinology Achard–Thiers syndrome (also known as diabetic-bearded woman syndrome) is a rare disorder mainly occurring in postmenopausal women. It is characterized by type II diabetes mellitus and signs related to the overproduction of androgens.[1] The disease is named for Emile Achard and Joseph Thiers.[2] ## Contents * 1 Presentation * 2 Diagnosis * 3 Treatment * 4 References * 5 External links ## Presentation[edit] Achard–Thiers syndrome affects mostly postmenopausal women and comprises diabetes mellitus, deep voice, hirsutism or hypertrichosis, clitoral hypertrophy and adrenal cortical hyperplasia or adenoma. Patients often also have amenorrhoea, hypertension and osteoporosis.[3] ## Diagnosis[edit] This section is empty. You can help by adding to it. (November 2017) ## Treatment[edit] This section is empty. You can help by adding to it. (November 2017) ## References[edit] * B.G. Firkin & J.A.Whitworth (1987). Dictionary of Medical Eponyms. Parthenon Publishing. ISBN 1-85070-333-7 * Who Named It? Specific 1. ^ "Achard Thiers Syndrome". NORD (National Organization for Rare Disorders). Retrieved 2020-07-30. 2. ^ Pal, Lubna (2013). Polycystic Ovary Syndrome: Current and Emerging Concepts. Springer Science & Business Media. p. 97. ISBN 9781461483946. Retrieved 7 November 2017. 3. ^ Braun-Falco, Otto; Plewig, Gerd; Wolff, Helmut Heinrich; Burgdorf, Walter H. C. (2012). Dermatology. Springer Science & Business Media. p. 1115. ISBN 9783642979316. Retrieved 7 November 2017. ## External links[edit] Classification D * ICD-10: E25.9 * ICD-9-CM: 255.2 * DiseasesDB: 33820 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-aminobutyric 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	Achard–Thiers syndrome	c0271732	26,407	wikipedia	https://en.wikipedia.org/wiki/Achard%E2%80%93Thiers_syndrome	2021-01-18T18:32:06	{"gard": ["5709"], "mesh": ["C536013"], "umls": ["C0271732"], "icd-9": ["255.2"], "icd-10": ["E25.9"], "wikidata": ["Q1541078"]}
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Frederick * Newsboys' strike of 1899 * Quebec Charter of Human Rights and Freedoms * Wild in the Streets Theory/concepts * Adultcentrism * Adultism * Ageism * Criminalization * Democracy * Ephebiphobia * Fear of children * Fear of youth * Intergenerational equity * Paternalism * Social class * Suffrage * Taking Children Seriously * Universal suffrage * Unschooling * Youth activism * Youth suffrage * Youth voice Issues * Age of candidacy * Age of consent * Age of majority * Age of marriage * Behavior modification facility * Child labour * Children in the military * Child marriage * Compulsory education * Conscription * Corporal punishment * at home * at school * in law * Curfew * Child abuse * Emancipation of minors * Gambling age * Homeschooling * Human rights and youth sport * In loco parentis * Juvenile delinquency * Juvenile court * Legal drinking age * Legal working age * Minimum driving age * Marriageable age * Minor (law) * Minors and abortion * Restavec * School leaving age * Smoking age * Status offense * Underage drinking in the US * Voting age * Youth-adult partnership * Youth participation * Youth politics * Youth voting Organizations * United Nations Convention on the Rights of the Child * Americans for a Society Free from Age Restrictions * Human Rights and Youth Rights Commission * National Youth Rights Association * One World Youth Project * Queer Youth Network * Students for a Democratic Society * Freechild Project * Three O'Clock Lobby * Youth International Party * Youth Liberation of Ann Arbor * Young Communist League of Canada People * Fletcher * Hanson * Henry * Holt * Koroknay-Palicz * Duff * Males * Postman * Yaco Related * Animal rights * Anti-racism * Direct democracy * Egalitarianism * Feminism * Libertarianism * Students rights * Youth rights * Society portal * v * t * e A group of teens Ephebiphobia is the fear of youth. First coined as the "fear or loathing of teenagers",[1] today the phenomenon is recognized as the "inaccurate, exaggerated and sensational characterization of young people" in a range of settings around the world.[2] Studies of the fear of youth occur in sociology and youth studies. It is distinguished from pedophobia by being more so focused on adolescents than prepubescent children. ## Contents * 1 Lexicology * 1.1 Coinage * 1.2 Similar terms * 1.2.1 Analogous labels * 1.2.2 Juvenoia * 2 History * 3 Causes * 4 Effects * 4.1 Social discrimination * 4.2 Commercial gain * 4.3 Governmental policy * 4.4 Education * 5 Combating ephebiphobia * 6 See also * 7 References * 8 Bibliography * 9 External links ## Lexicology[edit] ### Coinage[edit] The word ephebiphobia is formed from the Greek ἔφηβος éphēbos, meaning "youth" or "adolescent" and φόβος phóbos, meaning "fear" or "phobia". The coinage of this term is attributed to a 1994 article by Kirk Astroth published in Phi Delta Kappan.[3] Today, common usage occurs internationally by sociologists, government agencies,[4] and youth advocacy organizations that define ephebiphobia as an abnormal or irrational and persistent fear or loathing of teenagers or adolescence.[5][6] ### Similar terms[edit] #### Analogous labels[edit] This section needs expansion. You can help by adding to it. (March 2020) The term paedophobia has gained popular acceptance in Europe to describe the aforementioned "fear of youth".[7][8] Pediaphobia is the fear of infants and children. Hebephobia (from the Greek ἥβη, hḗbē, "youth, puberty") has also been proposed[citation needed]. Similar terms include adultism, which is a predisposition towards adults that is biased against children and youth, and ageism, which describes discrimination against any person because of their age. #### Juvenoia[edit] In the context of the 21st century, the neologism juvenoia has been used by publications such as the Christian Science Monitor to describe distaste and/or fear of the social culture associated with young people. The psychological distancing is prominently tied to advancements in technology and the exposure to material violating traditional values facilitated by that technology.[9] ## History[edit] The fear of youth, along with fear of street culture and the fear of crime, is said to have been in Western culture for "time immemorial".[10] Machiavelli is said to have realized that a fear of youth is what kept the city of Florence from keeping a standing army.[11] Ancient Venice and ancient Greece are also said to have had floundering public policy because of their fear of youth.[12][13] Early American Puritanism has been seen as reliant on a fear of youth, who were seen as embodying adventure and enlightenment, and therefore were viewed as susceptible to "decadent morality".[14] During the Industrial Revolution, Western European and North American popular media was particularly driven to propagate the fear of children and youth in order to further the industrialization of schooling,[15] and eventually to remove young people from the workplace when their labor became unnecessary due to mechanization and the influx of new labor.[16] Post-World War II France was said to have been stricken by concern for mal de jeunesse when they created policies that reflected their fear of youth. "Send them to summer camps, place others in reformatories, the rest should have some fresh air, build some athletic fields...". were the intentions of youth policies in that era.[17] Following World War II the United States military identified the growing number of youth in the Deep South as a problematic scenario for national security. Analysts have suggested the upswing in the popular culture's fear of youth may be attributed to defense policies created in response to that threat.[18] "In the 1990s public fear of adolescents mounted", caused by the "increased youth access to handguns, the syndicatization of territorial youth gangs into illegal drug cartels, racist stereotyping of urban youth, academic and political pandering, media frenzy, and a spate of high-profile school shootings of students by their fellow students".[19] The Seattle Weekly specifically cited the fear of youth as the driving factor behind Seattle, Washington's now-defunct Teen Dance Ordinance.[20] The government of Prime Minister Tony Blair introduced the Anti-Social Behaviour Order in 1998, which has also been attributed directly to a fear of youth.[21] ## Causes[edit] See also: Mid-Life Crisis § Characteristics, and Baby Boom Generation § Aging and end-of-life issues Media, marketers, politicians, youth workers and researchers have been implicated in perpetuating the fear of youth.[22] Since young people in developed countries are expected to stay out of the workforce, any role for them outside that of consumer is potentially threatening to adults.[23] Selling safety to parents and teachers has also been a driving force, as home security systems, cellphones, and computer surveillance usage is marketed to parents; and x-ray machines, metal detectors and closed-circuit television are increasingly sold to schools on the premise that young people are not to be trusted. These steps are in spite of the fact that experience consistently shows that monitoring youth does little to prevent violence or tragedy: the Columbine High School massacre occurred in a building with video surveillance and in-building police.[24] The very creation of the terms youth, adolescence and teenager have all been attributed to the fear of youth.[25] As the western world became more industrialized, young people were increasingly driven from the workforce, including involuntary and voluntary positions, and into increasingly total institutions where they lost personal autonomy in favor of social control.[26][27] Government policies outside of schools have been implicated as well, as over the last forty years curfews, anti-loitering and anti-cruising laws, and other legislation apparently targeted at teenagers have taken hold across the country. Courts have increasingly ruled against youth rights, as well.[28][29] Before the 1940s "teenagers" were not listed in newspaper headlines, because as a group they did not exist. The impact of youth since World War II on western society has been immense, largely driven by marketing that proponents them as the "Other". In turn, youth are caused to behave in ways that appear different from adults. This has led to the phenomenon of youth, and in turn has created a perpetuated fear of them.[30] ## Effects[edit] The fear of youth is thought to exist throughout the entire Western world.[31] Sociologist Ray Oldenburg has attributed the generation gap and the "increasing segregation of youth from adults in American society" to "adult estrangement and fear of youth".[32] At least one major economist has proposed that the fear of youth can have grave effects on the economic health of nations.[33] A growing number of researchers report that the fear of youth affects the health of democracy, reporting that the consequential vilification of youth has in the past, and continues to presently undermine public,[34] social, political,[35] religious,[36] and cultural[37] participation among current and future generations. As it affects young people themselves, ephebiphobia has been recognized as a barrier towards successful academic achievement,[38] a barrier to successful social intervention programs,[1] and as an indicator of the ineptitude of many adults to be successful parents.[39] ### Social discrimination[edit] "Today citizens as a whole as well as people who work with children live in fear of youth in our homes and schools and on our streets".[40] While "society loves their attractive bodies, youthfulness and commercial firepower", we also "vilify adolescents as a noncontributing drain on the economy and our democracy". In the mainstream media, young people are most often portrayed as self-absorbed and apathetic, uninterested in the common good or in advancing social goals.[41] Many social programs and social critics view the fear of youth as a condemning force against youth throughout society, particularly when coupled with racism.[42] Poet Gwendolyn Brooks was applauded for her consciousness-raising work around the fear of youth, particularly young African-Americans.[43] Popular contemporary beliefs about adolescents are different from historical narratives; in the past youth were portrayed as "the future" and the "leaders of tomorrow"; today they are seen as "a source of worry, not potential," contributing to a fear of adolescents, especially racial and ethnic minorities.[44] In turn this racist and adultist perspective informs urban law enforcement,[45][46][47][48] public schools,[49] and social services.[50] Sociologists have suggested that much of the current spread of the fear of youth is due to "adult anxiety over the shifting racial mix in the general population".[51] The effects of sexism are similarly reported to be amplified by ephebiphobia.[52] However, New York University professor Pedro Noguera has suggested that the fear of youth extends beyond color boundaries, as "skateboarders, punks, even straight-laced suburban teenagers can evoke anxiety among adults by congregating in large numbers in places deemed off-limits to youth".[53] The ability of youth to participate throughout society is seen as compromised because of the fear of youth, and is often disguised as a paternalism or protectionism among adults.[54] Additionally, scholar Henry Jenkins, "links criticism of new media with fear of adolescents, who are the most eager adopters. Teen culture seems meaningless and dangerous without an appreciation of its context".[55] ### Commercial gain[edit] Academics specifically acknowledge the force of ephebiphobia in the commercial sector, where this fear of youth has been extensively exploited for financial gain.[56] This is elaborated on by researchers and social critics who claim that popular media, including cinema and television, specifically exacerbated society's fear of youth for financial gain,[57][58][59] as one study reports, "Extreme fear of youth is an established media panic".[60] Pulp novels in the 1950s were mass-produced to specifically cash in on the growing fear of youth that was spreading throughout society.[61] Ironically, it has also been said that popular media's effects on young people are not as powerful as the fear of youth, which drives the fear of technology and in turn perpetuates the fear of youth.[62] ### Governmental policy[edit] Decision-making by government agencies, including public schools, policing and courts, have been found to be driven by the fear of youth.[63] The fear of adolescents has been said to cause a disjunction between what is said about the value of young people and what is done to them in education and social services, and causes them to be seen, "primarily as threats—to persons, to institutions, to status quo".[64] A number of observers have indicated the deliberate perpetuation of mass social ephebiphobia in order to elicit particular public and social responses. American sociologist Mike Males has identified trends among politicians and policy-makers of stoking the fear of youth among society in order to make headway in political campaigns and build popular support or otherwise "generate media sensation and public fear".[65] Similarly, the fear of youth has been identified as the driving factor behind many governmental programs designed to combat so-called "youth violence," in which the actions of few youth are attributed to the population of youth in general.[66][67][68] In a specific instance, "In Dallas, fear of youth led to accelerated surveillance and policing, particularly in its poorest area, Gaston".[69] The fear of adolescents is also said to have caused many governments to lower their age of criminal responsibility and escalate the detention of young people from childhood through adulthood.[70] ### Education[edit] Examining the Black Power movement of the 1970s, one researcher wrote, "The common adult dislike and fear of youth is compounded by the teacher's fear—fear of losing control in the classroom, fear of losing one's authority".[71] A specific increase in the fear of youth in schools following the Columbine High School massacre of 1999 is seen as a particular cause in evidence suggesting an overall decrease in student engagement throughout high schools today.[72] Fear of youth has led to the development of zero tolerance policies in many schools,[73] which in turn is attributed as the cause of the increase in arrests for juvenile crime on school campuses, which has promoted the fear of youth and led school administrators to call police for infractions once dealt with internally.[74] ## Combating ephebiphobia[edit] The American Library Association has developed a resource collection for librarians specifically to combat the ephebiphobia by promoting customer service skills specific to youth.[75] However, sociologist Mike Males has suggested that ephebiphobia does not analyze the problem deep enough, as the fear of adult stereotype of adolescence, or kourophobia, is the core challenge facing young people today.[76] ## See also[edit] * Adultcentrism * Americans for a Society Free from Age Restrictions * Fear of children * Herding instinct * In loco parentis * List of phobias * List of youth subcultures * Mass hysteria * Moral panic * Mosquito alarm, an 'anti-loitering device' which plays high-frequency soundwaves specifically targeted towards children and teens * National Youth Rights Association * Social control * Teenagers (song), a My Chemical Romance song about the singer's fear of teenagers * Youth culture * Youth voice * Holt, J. (1964) How Children Fail. New York: Delta. * Llewellyn, G. (n.d.) The Teenage Liberation Handbook: how to quit school and get a real life and education. ## References[edit] 1. ^ a b Astroth, K. (1994) Beyond ephebiphobia: problem adults or problem youths? (fear of adolescents). Phi Delta Kappan. January 1, 1994. 2. ^ Hoffman, A.M. and Summers, R.W. (2001) Teen Violence: A Global View. Greenwood Press. p 2. 3. ^ Gough, P. (2000) "Detoxifying Schools." Phi Delta Kappan. March 1, 2000. 4. ^ European Union's Stop Discrimination website - Glossary on age Archived October 17, 2007, at the Wayback Machine 5. ^ Grønnestad-Damur, W. & Pratch, L. (n.d.) No Ephebiphobia Here! Edmonton: Edmonton Public Library. 6. ^ Clark, C. (2004) Hurt: Inside the World of Today's Teenagers (Youth, Family, and Culture). Grand Rapids, MI: Baker Book House. 7. ^ Childhood is changing, but "paedophobia" makes things worse Archived 2007-09-04 at the Wayback Machine Institute for Public Policy Research. 22 October 2006. 8. ^ Waiton, S. (2006) The Roots of Paedophobia. Online. 9. ^ https://www.csmonitor.com/The-Culture/Family/Modern-Parenthood/2013/0723/Juvenoia-The-kids-are-all-right-even-on-the-Internet 10. ^ Pearson, G. (1983). Hooligan: A History of Respectable Fears. London: Palgrave Macmillan. p. 236. ISBN 0-333-23399-9. 11. ^ Trexler, R. C. (1980). Public Life in Renaissance Florence. Ithaca: Cornell University Press. p. 390. ISBN 0-8014-2694-4. 12. ^ Garland, Robert (1993). "Review of Ancient Youth: The Ambiguity of Youth and the Absence of Adolescence in Greco-Roman Society by M. Kleijwegt". Journal of Hellenic Studies. 113: 204–205. JSTOR 632438. 13. ^ Strauss, B. (1993). Fathers and Sons in Athens: Ideology and Society in the Era of the Peloponnesian War. London: Routledge. p. 16. ISBN 0-415-04146-5. 14. ^ Meily, C. (1911) Puritanism. C. H. Kerr & Company. p 118. 15. ^ Gatto, J.T., (2001) The Underground History of American Education. Oxford Village Press. 16. ^ Savage, J. (2007) Teenage: The Creation of Youth Culture. Viking Adult. 17. ^ Jobs, R.I. (2007) Riding the New Wave: Youth and the Rejuvenation of France After the Second World War. Stanford University Press. p 230 18. ^ Davis, Angela (2002). "The 'Youth Bulge' in the South". In Silliman, J.; Bhattacharjee, A.; Davis, A. J. (eds.). Policing the National Body: Sex, Race, and Criminalization. Cambridge: South End Press. p. 235. ISBN 0-89608-661-5. 19. ^ Rosenheim, M.K., Zimring, F.E. and Tanenhaus, D.S. (2002) A Century of Juvenile Justice. University of Chicago Press. p 282. 20. ^ Parrish, G. (1999). "Fear of Youth" Archived 2013-05-15 at the Wayback Machine, Seattle Weekly. February 29, 1999. 21. ^ Street-Porter, J. (2005) "The Politicians Fear of Youth Culture Archived 2007-09-30 at the Wayback Machine", The Independent April 7, 2005. 22. ^ Fletcher, A. (2006) Washington Youth Voice Handbook Archived 2008-04-14 at the Wayback Machine. CommonAction. p 11. Retrieved 6/3/08. 23. ^ Sternheimer, K. (2006) Kids These Days: Facts and Fictions about Today's Youth. Rowman & Littlefield. p 140. 24. ^ Sternheimer, K. (2006) p 146. 25. ^ Savage, J. (2007) Teenage: The Creation of Youth 1875-1945. Chatto & Windus. 26. ^ Gatto, J.T.. (2001) The Underground History of American Education. Oxford Village Press. p 306. 27. ^ Breeding, J. (2002) True nature and great misunderstandings: On How We Care for Our Children. Virtualbookworm Publishing. p 10. 28. ^ Lauter, P. and Howe, P. (1971) The conspiracy of the young. Meridian. p 304. 29. ^ Epstein, R. (2007) The case against adolescence. Quill Driver Books. p 323. 30. ^ Palladino, G. (1996) Teenagers: An American perspective. BasicBooks. p 247. 31. ^ Konopka, G. (1983) Social Group Work: A Helping Process. Prentice Hall. p 40. 32. ^ Oldenburg, R. (1999) The Great Good Place: Cafés, Coffee Shops, Bookstores, Bars, Hair Salons. Marlowe & Company. p xx. 33. ^ Gray, D. (1999) Negroponte: Europe's Net development held back by fear of youth, risk taking CNN. September 15, 1999. 34. ^ Jones, P., Shoemaker, S. Chelton, M. (2001) Do It Right! Best Practices for Serving Young Adults in School and Public Libraries New York: Neal-Schuman Publishers. 35. ^ Lawrence Grossberg, (2005) Caught In The Crossfire: Kids, Politics, And America's Future (Cultural Politics & the Promise of Democracy) New York: Paradigm Publishers 36. ^ Rice, W. (1998) Junior High Ministry: A Guide to Early Adolescence for Youth Workers. Zondervan Publishing. p 15. 37. ^ Giroux, H. (2004) Take Back High Education: Race, Youth, and the Crisis of Democracy in the post-Civil Rights Era New York: Palgrave 38. ^ Butts, P.M. (2000) Beyond Ephebiphobia: Overcoming the Fear of Middle & High School Students; A Program for Public Librarians. Macatawa, MI: Macatawa Public Library. 39. ^ Coontz, S. (1999) The Way We Really Are: Coming to Terms With America's Changing Families. New York: Basic Books. 40. ^ Bender, S.J., Neutens, J., Skonie-Hardin, S., et al. (1997) Teaching health science: Elementary and middle school. Jones & Bartlett Publishers. p 7. 41. ^ Jee, K. and Sherman, R. (2006) "Youth as important civic actors: From the margins to the center" Archived 2008-05-15 at the Wayback Machine, National Civic Review. 95;1. 42. ^ Delgado, M. (2001) Where are All the Young Men and Women of Color? Columbia University Press. p 231. 43. ^ Levingston, K. (2001) "New Statistics Puncture Myth of Violent Kids", Philadelphia Inquirer. January 6, 2001. Retrieved 5/9/08. 44. ^ Zeldin, S. (2002). "Sense of community and positive adult beliefs toward adolescents and youth policy in urban neighborhoods and small cities". Journal of Youth and Adolescence. 31 (5): 331–342. doi:10.1023/A:1015624507644. 45. ^ Males, M. (2002) "The New Demons: Ordinary teens". Los Angeles Times. April 21, 2002. 46. ^ Youth Media Council. (2005) Reclaiming Meaning, Echoing Justice Archived 2006-10-10 at the Wayback Machine. Oakland, CA: Author. 47. ^ Collins, J. (2002). Gangs, Crime and Community Safety: Perceptions and Experiences in Multicultural Sydney Archived 2006-12-31 at the Wayback Machine Sydney: University of Technology. 48. ^ Scottish Executive (2006) Measurement of the Extent of Youth Crime in Scotland. 49. ^ Kozol, J. (2005) The Shame of a Nation: The Restoration of Apartheid Schooling in America. New York: Three Rivers Press. 50. ^ Abram, S. (2007) "Ephebiphobia," p 130 in Abram, S. Out Front with Stephen Abram: A Guide for Information Leaders. ALA Editions. 51. ^ Rapping, E. (2003) Law and Justice as Seen on TV. NYU Press. p 208. 52. ^ Bromwich, R.J. (2002) Beyond Villains and Victims: Some Thoughts on Youth and Violence in Canada Archived 2007-02-14 at the Wayback Machine. Toronto, ON: Women's Justice Network. 53. ^ Noguera, P. (2003) City Schools and the American Dream: Reclaiming the Promise of Public Education. Teachers College Press. p 127. 54. ^ Fredman, S. and Spencer, S. (2003) Age as an Equality Issue. Hart Publishing. p 34. 55. ^ Tushnet, R. ("Volunteers from the Audience: Audience Interests and the First Amendment," Georgetown University Law Center. p 3., footnote 10. 56. ^ Palladino, G. (1997) Teenagers: An American History. New York: Basic Books. 57. ^ "Studios caught in teen-age dilemmas Multiplex issues," Worcester Telegram & Gazette (MA), July 20, 2001. 58. ^ Shary, T. (2002). Generation Multiplex: The Image of Youth in Contemporary American Cinema. Austin: University of Texas Press. p. 4. 59. ^ Giroux, H. (1999) The Mouse that Roared: Disney and the End of Innocence. New York: Rowman & Littlefield Publishers. 60. ^ Hope, A. and Oliver, P. (2005) Risk, education and culture. Ashgate Publishing, Ltd. p 79. 61. ^ Shary, T. (2005) Teen Movies: American Youth on Screen. Wallflower Press. p 20. 62. ^ Sternhiemer, S. (2003) It's Not the Media: The Truth about Pop Culture's Influence on Children. Westview Press. p 115. 63. ^ Giroux, H. (2003) The Abandoned Generation: Democracy beyond the culture of fear. New York: Palgrave. 64. ^ Beker, J. and Magnuson, D. (1996) Residential Education as an Option for At-Risk Youth. Haworth Press. p 60. 65. ^ Males, M. (2001) "Lies, Damn Lies, and 'Youth Risk' Surveys" Youth Today. April 2001 66. ^ Barak, G. (2003) Violence and Nonviolence: Pathways to Understanding. Sage Publications Inc. p 132. 67. ^ Collins, J., Noble, G., and Poynting, B. (2000) Kebabs, Kids, Cops and Crime: Youth, Ethnicity and Crime. Pluto Press Australia. p 122. 68. ^ Walgrave, L. and Bazemore, B. (1999) Restorative Juvenile Justice: Repairing the Harm of Youth Crime. Criminal Justice Press. p 192. 69. ^ Wilson, D. (2005) Inventing Black-on-Black Violence: Discourse, Space, and Representation. Syracuse University Press. p 144. 70. ^ Susskind, A. (1987) "Issues in Institutional Child Sexual Abuse The Abused, the Abuser, and the System," Residential Treatment for Children & Youth. 4;2. p 19. 71. ^ Ornstein, A.C. (1972) Urban Education: Student Unrest, Teacher Behaviors, and Black Power. Charles E. Merrill Publishing Co. p 73. 72. ^ Campbell, N. (2004) American Youth Cultures. Routledge. p 19. 73. ^ Lyons, W. and Drew, J. (2006) Punishing Schools: Fear And Citizenship In American Public Education. University of Michigan Press. p 4. 74. ^ Acland, C.R. (1995) Youth, Murder, Spectacle: The Cultural Politics of "youth in crisis". Westview Press. p 144. 75. ^ ALA President's Program. (1994) "Beyond Ephebiphobia: A tool chest for customer service to young adults". American Library Association. 76. ^ Males, M. (1999) Framing Youth: 10 myths about the next generation. Common Courage Press. p 47. ## Bibliography[edit] * Lesko, N. (2001) Act Your Age!: A Cultural Construction of Adolescence. Routledge. ISBN 0-415-92833-8. * (n.d.) "Youth liberation", Z magazine online. * Three Types of Youth Liberation \- by Sven Bonnichsen * Pro-Youth \- A firm text against ageism towards teenagers, presenting a case of ageism committed by a jury. * Everyone deserves to be given a chance \- An essay against ageism towards teenagers, written by a Canadian adolescent. * "Are We Down On Our Kids?" \- A Review of Caught in the Crossfire: Kids, Politics, and America's Future by Lawrence Grossberg in Endeavours magazine that diagnoses cultural ephebiphobia in the U.S. * Ayotte, W. (1986) As Soon as You're Born They Make You Feel Small: Self Determination for Children. * Chicago Anarchist Youth Federation (n.d.) Schoolstoppers Textbook. * Cullen, S. (1991) Children in Society: a libertarian critique. London: Freedom Press. * Goodman, P. (1964) Compulsory Miseducation and The Community of Scholars. New York: Vintage Books. * Illich, I. (1970) Deschooling Society. New York: Harrow Books. * Holt, J. (1972) Freedom and Beyond. New York: E.P. Dutton & Co. * Miller, A. (1990) For Your Own Good: Hidden cruelty in child-rearing and the roots of violence. 3rd edition. New York: Noonday Press. * Sternheimer, K. (2006) Kids These Days: Facts and Fictions about Today's Youth. Rowman and Littlefield. ## External links[edit] Look up ephebiphobia in Wiktionary, the free dictionary. Look up hebephobia in Wiktionary, the free dictionary. * "Ephebiphobia," The Freechild Project. * v * t * e Youth empowerment Elements * Evolving capacities * Free-range parenting * Intergenerational equity * Leaving the nest * Student voice * Youth-adult partnership * Youth mainstreaming * Youth rights * Youth voice Types * Community youth development * Popular education * Anarchistic free school * Democratic free school * Positive youth development * Student activism * Student-centered learning * Student rights * Student voice * Youth activism * Youth council * Youth court * Youth engagement * Youth leadership * Youth-led media * Youth movement * Youth participation * Youth philanthropy * Youth service * Youth suffrage * Youth vote * Youth voice Barriers * Adultcentrism * Adultism * Age restrictions * Ageism * Control freak * Fear of youth (ephebiphobia) * Eleutherophobia * Fear of children (pediaphobia) * Gerontocracy * Grounding * Helicopter parent * Infantilization * Intrusiveness 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[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	Ephebiphobia	None	26,408	wikipedia	https://en.wikipedia.org/wiki/Ephebiphobia	2021-01-18T18:38:56	{"wikidata": ["Q2076315"]}
A number sign (#) is used with this entry because hyperphosphatasia with mental retardation syndrome-1 (HPMRS1) is caused by homozygous or compound heterozygous mutation in the PIGV gene (610274) on chromosome 1p36. Description Hyperphosphatasia with mental retardation syndrome-1 is an autosomal recessive disorder characterized by mental retardation, various neurologic abnormalities such as seizures and hypotonia, and hyperphosphatasia. Other features include facial dysmorphism and variable degrees of brachytelephalangy (summary by Krawitz et al., 2010). The disorder is caused by a defect in glycosylphosphatidylinositol biosynthesis; see GPIBD1 (610293). ### Genetic Heterogeneity of Hyperphosphatasia with Mental Retardation Syndrome See also HPMRS2 (614749), caused by mutation in the PIGO gene (614730) on chromosome 9p13; HPMRS3 (614207), caused by mutation in the PGAP2 gene (615187) on chromosome 11p15; HPMRS4 (615716), caused by mutation in the PGAP3 gene (611801) on chromosome 17q12; HPMRS5 (616025), caused by mutation in the PIGW gene (610275) on chromosome 17q12; and HPMRS6 (616809), caused by mutation in the PIGY gene (610662) on chromosome 4q22. Knaus et al. (2018) provided a review of the main clinical features of the different types of HPMRS, noting that some patients have a distinct pattern of facial anomalies that can be detected by computer-assisted comparison, particularly those with mutations in the PIGV and PGAP3 genes. Individuals with HPMRS have variable increased in alkaline phosphatase (AP) as well as variable decreases in GPI-linked proteins that can be detected by flow cytometry. However, there was no clear correlation between AP levels or GPI-linked protein abnormalities and degree of neurologic involvement, mutation class, or gene involved. Knaus et al. (2018) concluded that a distinction between HPMRS and MCAHS (see, e.g., 614080), which is also caused by mutation in genes involved in GPI biosynthesis, may be artificial and even inaccurate, and that all these disorders should be considered and classified under the more encompassing term of 'GPI biosynthesis defects' (GPIBD). Clinical Features Mabry et al. (1970) reported 3 sibs and a first cousin with severe mental retardation, seizures, various neurologic abnormalities, and greatly elevated alkaline phosphatase. Both pairs of parents were consanguineous. The alkaline phosphatase present in excess seemed to be of hepatic origin. Kruse et al. (1988) reported that over a 10-year period they had observed 9 children (6 females) from 6 families who had unexplained persistent hyperphosphatasia and mental retardation. Six of the patients had moderately delayed motor and speech development and 3 of these patients had seizures. The other 3 patients, including male identical twins, had severe primary delayed development and generalized muscular hypotonia since early infancy, with decreased tendon jerk. They also had severe seizures that were resistant to anticonvulsant drugs. One of the twins died at age 1.9 years of an unknown cause; autopsy revealed no evidence of macroscopic or microscopic brain lesions. Even at the age of 8 and 4 years, respectively, the other 2 patients were unable to sit, speak, or make emotional contact. Marcelis et al. (2007) reported 2 sisters, born to consanguineous Moroccan parents, with a syndrome of mental retardation, epilepsy, anteriorly displaced anus, hypoplastic terminal phalanges, hypoplastic nails, hypotonia, delayed myelinization in the brain, arched eyebrows, hypertelorism, and downturned corners of the mouth. The elder sister also had anovestibular fistula, and her nail hypoplasia was associated with hypoplasia of the distal phalanx of the fifth finger. The younger sister also had clefting of the hard and soft palates, and a small ventricular septal defect. Both sisters had elevated levels of alkaline phosphatase. Marcelis et al. (2007) noted similarities to Coffin-Siris syndrome (135900) but considered the disorder in the sibs to be distinct because neither sib had the coarse face and sparse scalp hair characteristic of Coffin-Siris syndrome. Horn et al. (2010) reported 3 sibs, a 4-year-old girl and dizygotic twin brothers, with a syndrome consisting of severe mental retardation, considerably elevated levels of alkaline phosphatase, hypoplastic terminal phalanges, and distinct facial features. Shortness of the distal phalanges was demonstrated both clinically and radiologically in all. The girl had Hirschsprung disease, both boys had hearing impairment, and 1 boy had macrocephaly and cleft lip/palate. Horn et al. (2010) suggested that their patients and those reported by Marcelis et al. (2007) and Rabe et al. (1991) had the same syndrome originally described by Mabry et al. (1970). Rabe et al. (1991) had suggested the diagnosis of Coffin-Siris syndrome in 2 sisters with hyperphosphatasia, severe mental retardation, brachytelephalangy, and facial features characterized by hypertelorism, long palpebral fissures, broad nasal bridge or tip, and a tented mouth. Horn et al. (2010) stated that all 7 patients had hyperphosphatasia, severe psychomotor retardation, the same facial gestalt, and brachytelephalangy. Five patients learned to walk, 2 were still not walking at 2 years and 9 years, and none had developed speech. Five patients had documented hypotonia and 3 of the 5 had seizures. Four patients had anorectal anomalies. Thompson et al. (2010) reported 5 patients, 2 sibs, 1 child of consanguineous patients, and 2 sporadic patients, with hyperphosphatasia, mental retardation, and seizures; one of the patients had previously been reported by Thompson et al. (2006). All had similar facial dysmorphism characterized by hypertelorism, broad nasal bridge, and a tented mouth. All had some degree of brachytelephalangy, but the phalangeal shortening varied in position and degree. In all there was a persistent elevation of alkaline phosphatase activity with no evidence of active bone or liver disease. The degree of hyperphosphatasia varied considerably between patients (1.3 to 20 times the upper age-adjusted reference limit), but was relatively constant over time. All 5 patients were products of a normal pregnancy and birth history. None of the patients had growth delay, 2 had macrocephaly, 2 had normocephaly, and 1 had microcephaly. All had moderate to severe psychomotor retardation, hypotonia in the first year of life, and seizures with age of onset ranging from less than 1 month to 7 years. Of 2 patients tested, seizures were pyridoxine-responsive in one but not in the other. One patient had autistic behavior. Thompson et al. (2010) commented that at least 1 member of the family reported by Mabry et al. (1970) was found to have intracellular inclusions on biopsy of some but not all tissues; inclusions were found in a rectal biopsy, tooth, and liver. Thompson et al. (2010) found similar inclusions in only some tissues of 3 of their patients; patients 1 and 5 had inclusions in fibroblasts, and patient 2 had inclusions in osteoblasts and fibroblasts. The intracellular storage material was not identified. Thompson et al. (2010) stated that hyperphosphatasia and the presence of intracellular inclusions distinguish this disorder and suggested the designation Mabry syndrome. Krawitz et al. (2010) reported a family in which 3 sibs, including a pair of dizygotic twin boys, had the hyperphosphatasia mental retardation syndrome. They were born of nonconsanguineous German parents. All had severe global developmental delay without any speech development, and characteristic facies, including hypertelorism, large appearing eyes, short nose with broad nasal bridge and tip, and thin upper lip with downturned corners of the mouth. Several distal phalanges, particularly digits II and V, were shortened. One patient had seizures. Alkaline phosphatase was persistently elevated in all 3 patients. Horn et al. (2011) reported 2 unrelated patients with hyperphosphatasia mental retardation syndrome confirmed by genetic analysis. One was of German and Dutch/Polish origin and the other was of Polish origin. Both patients had developmental delay, brachytelephalangy, hyperphosphatasia, and a facial gestalt, including hypertelorism, long palpebral fissures, broad nasal bridge and tip, and tented mouth. One patient had a more severe phenotype with hypotonia, seizures, lack of speech, inability to walk, hearing impairment, Hirschsprung disease, and cleft palate. The other patient had anal atresia and a small atrial septal defect. Thompson et al. (2012) reported a sister and brother, born of unrelated English parents, with HPMRS1. They had hypotonia, early-onset seizures, and dysmorphic features including hypertelorism with long palpebral fissures, broad nasal bridge, tented upper lip with downturned corners of the mouth, simple cupped ears with thickened helices, and brachytelephalangy. Both had profound global developmental delay with no speech. Other features included unilateral hydronephrosis in both, an anteriorly placed anus in 1 patient, and short-segment Hirschsprung disease in the other. An unrelated Dutch girl with the disorder, born of consanguineous parents, showed similar features, including brachytelephalangy and hydronephrosis. Fibroblasts of the Dutch girl contained abundant cytoplasmic vacuoles, reminiscent of a lysosomal storage disease. Inheritance Marcelis et al. (2007) suggested autosomal recessive inheritance for this disorder because of parental consanguinity and affected sibs. Mapping Marcelis et al. (2007) carried out a 10-cM whole-genome linkage scan and found that both affected sibs reported by them were homozygous with respect to 4 consecutive markers on chromosome 1p; however, the authors erroneously cited the 1p markers as D142697, D14S255, D14S199 and D14S234. On chromosome 14 the homozygous region encompassed at least the region from D14S70 to D14S280, spanning a minimum region of 65 Mb. Molecular Genetics Using whole-exome capture and sequencing in combination with a Hidden Markov Model algorithm to detect regions of the genome that are identical by descent, Krawitz et al. (2010) identified a homozygous mutation in the PIGV gene (A341E; 610274.0001) in 3 German sibs with the hyperphosphatasia mental retardation syndrome. Further study of this gene identified homozygous or compound heterozygous mutations (610274.0001-610274.0004) in affected individuals from 3 additional families, including those reported by Rabe et al. (1991) and Marcelis et al. (2007), as well as in 1 patient reported by Thompson et al. (2010). In 3 patients, including 2 sibs, with HPMRS1, Thompson et al. (2012) identified compound heterozygous mutations in the PIGV gene (see, e.g., 610274.0001 and 610274.0006). Pathogenesis Murakami et al. (2012) stated that hyperphosphatasia in HPMRS1 results from secretion of liver alkaline phosphatase (LAPL; 171760), which is normally attached to the cell surface via a glycosylphosphatidylinositol (GPI) anchor, due to deficiency of PIGV, a mannosyltransferase essential for GPI biosynthesis. Using Chinese hamster ovary cells deficient in select GPI synthesis proteins, they found that GPI-anchored proteins were released to the medium following deletion of proteins active in intermediate steps of GPI synthesis, including Pigv, which attaches the second mannosyl to the immature GPI anchor. Deletion of proteins active earlier in GPI synthesis or of the GPI transamidase, which functions late in the process and exchanges the GPI signal sequence for the completed GPI anchor, resulted in degradation of substrate proteins. Substrate proteins released following knockdown of Pigv were cleaved following the GPI signal sequence, but they lacked the GPI anchor. Murakami et al. (2012) concluded that the GPI transamidase can cleave GPI signal sequences on substrate proteins in the presence of an immature GPI anchor with at least 1 mannosyl residue, resulting in secretion of substrate proteins, including LAPL. They noted that these findings explain the molecular mechanism of hyperphosphatasia in HPMR1. INHERITANCE \- Autosomal recessive HEAD & NECK Face \- Midface hypoplasia \- Prognathism Ears \- Hearing impairment Eyes \- Hypertelorism \- Upslanting palpebral fissures \- Long palpebral fissures \- Arched eyebrows Nose \- Broad nasal bridge \- Broad nasal tip \- Short nose Mouth \- Cleft palate (rare) \- Short philtrum \- Downturned corners of the mouth \- Tented mouth CARDIOVASCULAR Heart \- Cardiac defects (in some patients) \- Ventral septal defect (rare) ABDOMEN Gastrointestinal \- Feeding problems necessitating tube feeding (in some patients) \- Anteriorly displaced anus (in some patients) \- Anovestibular fistula (in some patients) \- Anorectal anomalies (in some patients) \- Megacolon (in some patients) GENITOURINARY Kidneys \- Renal malformations (in some patients) SKELETAL Skull \- Plagiocephaly Hands \- Hypoplastic terminal phalanges (brachytelephalangy) \- Tapered fingers Feet \- Hypoplastic toes (in some patients) \- Bilateral adducted forefoot (rare) SKIN, NAILS, & HAIR Nails \- Hypoplastic nails (in some patients) \- Curved nails (in some patients) NEUROLOGIC Central Nervous System \- Hypotonia \- Seizures \- Mental retardation, severe \- Athetoid and dystonic hand movements (in some patients) \- Moderate cortical atrophy (in some patients) \- Delayed myelinization (in some patients) \- Speech delay (in some patients) \- No speech development (in most patients) LABORATORY ABNORMALITIES \- Elevated alkaline phosphatase (varies from 1.3-20 times age-adjusted upper limit of normal) \- Hyperphosphatasia MOLECULAR BASIS \- Caused by mutation in the phosphatidylinositol glycan, class V gene (PIGV, 610274.0001 ) ▲ 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-aminobutyric 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	HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1	c1855923	26,409	omim	https://www.omim.org/entry/239300	2019-09-22T16:26:48	{"mesh": ["C565495"], "omim": ["239300"], "orphanet": ["247262"], "synonyms": ["Alternative titles", "MABRY SYNDROME", "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 2"]}
Borderline intellectual functioning Other namesBorderline mental retardation,[1] borderline mental subnormality,[1] borderline mental deficiency,[1] borderline mental disability, borderline intelligence,[1] deficientia intelligentiæ,[1] backwardness[1] SpecialtyPsychiatry Part of a series on Psychology * Outline * History * Subfields Basic types * Abnormal * Behavioral genetics * Biological * Cognitive/Cognitivism * Comparative * Cross-cultural * Cultural * Differential * Developmental * Evolutionary * Experimental * Mathematical * Neuropsychology * Personality * Positive * Quantitative * Social Applied psychology * Applied behavior analysis * Clinical * Community * Consumer * Counseling * Critical * Educational * Environmental * Ergonomics * Forensic * Health * Humanistic * Industrial and organizational * Legal * Medical * Military * Music * Occupational health * Political * Religion * School * Sport * Traffic Lists * Disciplines * Organizations * Psychologists * Psychotherapies * Publications * Research methods * Theories * Timeline * Topics * Psychology portal * v * t * e Borderline intellectual functioning, also called borderline mental retardation (in the ICD-8),[1] is a categorization of intelligence wherein a person has below average cognitive ability (generally an IQ of 70–85),[2] but the deficit is not as severe as intellectual disability (below 70). It is sometimes called below average IQ (BAIQ). This is technically a cognitive impairment; however, this group may not be sufficiently mentally disabled to be eligible for specialized services.[3] ## Contents * 1 Codes * 2 Learning skills * 3 Differential diagnosis * 4 See also * 5 References * 6 Further reading ## Codes[edit] The DSM-IV-TR code of borderline intellectual functioning is V62.89.[4] DSM-5 diagnosis codes are V62.89 and R41.83.[5] ## Learning skills[edit] During school years, individuals with borderline intellectual functioning are often "slow learners."[3] Although a large percentage of this group fails to complete high school and can often achieve only a low socioeconomic status, most adults in this group blend in with the rest of the population.[3] ## Differential diagnosis[edit] According to the DSM-5, differentiating borderline intellectual functioning and mild intellectual disability requires careful assessment of adaptive and intellectual functions and their variations, especially in the presence of co-morbid psychiatric disorders that may affect patient compliance with standardized test (for example, attention deficit hyperactivity disorder (ADHD) with severe impulsivity or schizophrenia).[5] ## See also[edit] * IQ classification * Special education ## References[edit] 1. ^ a b c d e f g Manual of the International Statistical Classification of Diseases, Injures, and Causes of Death (PDF). Vol. 1. Geneva: World Health Organization. 1967. p. 154. 2. ^ TP Alloway (May 2010). "Working memory and executive function profiles of individuals with borderline intellectual functioning". 54 (5): 448–56. doi:10.1111/j.1365-2788.2010.01281.x. PMID 20537050. Cite journal requires `\|journal=` (help) 3. ^ a b c The Best Test Preparation for the Advanced Placement Examination in Psychology, Research & Education Association. (2003), p. 99 4. ^ Diagnostic and statistical manual of mental disorders: DSM-IV. Washington, DC: American Psychiatric Association. 2000. ISBN 0-89042-025-4. 5. ^ a b American Psychiatric Association (2013). "Other Conditions That May Be a Focus of Clinical Attention". Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5). Arlington, VA: American Psychiatric Publishing. p. 727. doi:10.1176/appi.books.9780890425596. ISBN 978-0-89042-559-6. ## Further reading[edit] * Gillberg, Christopher (1995). Clinical child neuropsychiatry. Cambridge: Cambridge University Press. pp. 47–48. ISBN 0-521-54335-5. * Harris, James C. (2006). Intellectual disability : understanding its development, causes, classification, evaluation, and treatment. New York: Oxford University Press. ISBN 0-19-517885-8. [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-aminobutyric 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	Borderline intellectual functioning	c3809378	26,410	wikipedia	https://en.wikipedia.org/wiki/Borderline_intellectual_functioning	2021-01-18T19:05:54	{"umls": ["C3809378"], "wikidata": ["Q11861940"]}
## Description Torticollis is a twisted neck as a result of shortening of sternocleidomastoid muscle. This short and fibrotic muscle pulls the head laterally and rotates the chin and face to the opposite end. Facial asymmetry may be a manifestation (summary by Engin et al., 1997). Clinical Features Thompson et al. (1986) reported 5 girls with congenital muscular torticollis from 3 sibships of an inbred kindred. Engin et al. (1997) described a Turkish family in which 5 patients over 3 generations had congenital muscular torticollis. The probands were a 13-year-old boy and his 12-year-old sister who had suffered from tilted head since birth. In each, the head was tilted to the right and the neck twisted toward the left shoulder. The right sternocleidomastoid muscle resembled a fibrotic band. The cervical spine was normal radiographically. Facial asymmetry was not severe in the boy but moderately severe in the girl. The parents were 'fourth degree' relatives and unaffected. On the father's side, the grandmother, an uncle, and a son of another uncle had suffered from 'twisted neck' in the right direction since birth. If the inheritance were autosomal dominant, then 2 males would represent skipped generations. Familial spasmodic torticollis may not be distinct from dystonia musculorum (128100, 224500), because the latter sometimes presents first or even only as torticollis, especially in the dominant variety. Gilbert (1977) described 4 patients from 3 families with spasmodic torticollis and maintained that it is a distinct from dystonia musculorum deformans because none of those affected had evidence of more widespread disease. Inheritance Male-to-male transmission (Isigkeit, 1931; Garceau, 1962) and transmission of torticollis through 3 or more generations (Armstrong et al., 1965) have been reported. Inheritance \- Autosomal dominant \- ? same as dystonia musculorum Neck \- Torticollis Facies \- Facial asymmetry ▲ 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-aminobutyric 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	TORTICOLLIS	c0040485	26,411	omim	https://www.omim.org/entry/189600	2019-09-22T16:32:28	{"mesh": ["D014103"], "omim": ["189600"], "icd-9": ["723.5"], "icd-10": ["M43.6"]}
A number sign (#) is used with this entry because of evidence that neurodevelopmental disorder with or without variable brain abnormalities (NEDBA) is caused by heterozygous mutation in the MAPK8IP3 gene (605431) on chromosome 16p13. Description Neurodevelopmental disorder with or without variable brain abnormalities (NEDBA) is characterized by global developmental delay apparent from infancy or early childhood, resulting in mildly delayed walking, variably impaired intellectual development, and poor or absent speech. Additional features may include hypotonia, spasticity, or ataxia. About half of patients have abnormal findings on brain imaging, including cerebral or cerebellar atrophy, loss of white matter volume, thin corpus callosum, and perisylvian polymicrogyria. Seizures are not a prominent finding, and although some patients may have nonspecific dysmorphic facial features, there is no common or consistent gestalt (summary by Platzer et al., 2019). Clinical Features Platzer et al. (2019) reported 13 unrelated patients, ranging in age from 3 to 19 years, with a neurodevelopmental disorder. All were noted to have delayed psychomotor development apparent in infancy or early childhood, as well variable degrees of intellectual disability (31% mild, 46% moderate, and 23% severe), often with speech delay or minimal speech; IQ was 48 to 49 in 3 patients tested. Two patients had autistic features. Most had abnormal muscle tone, including 9 with hypotonia, 4 with spasticity, and 2 with both, and 3 patients had ataxia or unsteady gait. Only 3 patients had a single generalized seizure in childhood; a fourth patient (individual 10) with earlier onset of more severe seizures also carried a likely pathogenic mutation in the SLC6A1 gene (137165). Less common features included cortical visual impairment (in 2), scoliosis (in 3), short stature (in 2), small head (in 3), and tapering fingers/fifth finger clinodactyly/small hands and feet. A few patients had nonspecific dysmorphic facial features, such as hypertelorism, low-set ears, deep-set eyes, strabismus, high nasal bridge, and abnormal teeth, but most did not have dysmorphic features and there was no consistent gestalt. Brain imaging was normal in 4 patients, but showed variable abnormalities in 8 others, including perisylvian polymicrogyria (in 2), cerebral atrophy, abnormal corpus callosum, white matter volume loss, and hypomyelination. The patients were ascertained through GeneMatcher and international collaborative efforts, including centers in Brazil, Germany, Israel, Italy, the United States, and the Netherlands. Iwasawa et al. (2019) reported 5 Japanese patients, including 2 sibs, with NEDBA. The patients, who ranged in age from 5 to 29 years, were severely affected. They had hypotonia in infancy, and only a 5-year-old girl (individual 5) was able to walk at age 2 years; the other 5-year-old could 'cruise,' but the 3 older patients had spastic diplegia, never acquired walking, and were wheelchair-bound. Most were nonverbal or had only a few words; intellectual disability was severe or profound in all patients (DQ of 27-34), and the younger patients had autistic features. Two patients had epilepsy, and 3 had abnormal spikes on EEG. Brain imaging was abnormal in all patients, showing cerebral atrophy and hypoplasia of the corpus callosum; 3 patients had delayed myelination. There were some dysmorphic features in most patients, including round face, prominent nasal bridge, and thin upper lip. One patient also had upslanting palpebral fissures, anteverted nares, and a short philtrum. Two had short stature, 3 had obesity, and the 2 sibs, a brother and sister, had precocious puberty. Sural nerve biopsy in 1 patient (individual 2) showed loss of myelinated fibers; EMG indicated a neurogenic pattern, and nerve conduction studies indicated an axonal neuropathy. Molecular Genetics In 13 unrelated patients with NEDBA, Platzer et al. (2019) identified 9 different de novo heterozygous mutations in the MAPK8IP3 gene (see, e.g., 605431.0001-605431.0005). The mutations, which were found by exome sequencing and confirmed by Sanger sequencing, were not found in the gnomAD database. Three of the mutations were nonsense or frameshift and predicted to result in nonsense-mediated mRNA decay, whereas 6 were missense variants at highly conserved residues. Engineering of mutations corresponding to 1 nonsense (Y37X; 605431.0002) and 5 of the missense variants in C. elegans showed that only Y37X and L444P (605431.0003) resulted in increased axonal lysosome density compared to wildtype (about 88-fold increase for Y37X and 15-fold increase for L444P), consistent with a loss of protein function and impaired axonal transport. Further studies showed that 5 of the 6 investigated C. elegans unc16 mutants had variably decreased swimming cycle rates compared to controls, particularly for the Y37X and L444P variants. These defects could be rescued by expression of wildtype unc16. Platzer et al. (2019) interpreted these findings as evidence of disrupted axonal transport resulting from MAPK8IP3 mutations, but also noted that other functions of the gene may be disturbed by the mutations. Studies of patient cells were not performed. The patients were ascertained from a total cohort of 27,232 individuals with neurodevelopmental disorders. In 5 Japanese patients, including 2 sibs, with NEDBA, Iwasawa et al. (2019) identified 2 different de novo heterozygous missense mutations in the MAPK8IP3 gene (R578C, 605431.0004 and R1146C, 605431.0005). The mutations were found by exome sequencing; the mutation in the sibs was suggested to have resulted from germline mosaicism. Expression of the variants in zebrafish resulted in axonal abnormalities, suggesting defects in neural development. INHERITANCE \- Autosomal dominant GROWTH Height \- Short stature (in some patients) Weight \- Obesity (in some patients) HEAD & NECK Head \- Small head circumference (in some patients) Face \- Dysmorphic facial features, nonspecific (in some patients) \- Round face \- Short philtrum \- Long philtrum Ears \- Low-set ears Eyes \- Cortical visual impairment (in some patients) \- Deep-set eyes \- Strabismus \- Hypertelorism \- Upslanting palpebral fissures Nose \- Prominent nasal bridge \- High nasal bridge \- Anteverted nares Mouth \- Thin upper lip \- Small mouth Teeth \- Abnormal teeth SKELETAL Spine \- Kyphosis \- Scoliosis Hands \- Fifth finger clinodactyly \- Thin fingers \- Small hands Feet \- Foot deformities \- Small feet MUSCLE, SOFT TISSUES \- Hypotonia NEUROLOGIC Central Nervous System \- Global developmental delay \- Delayed walking \- Inability to walk \- Impaired intellectual development, variable severity \- Poor or absent speech \- Spasticity \- Gait instability \- Ataxia \- Dyspraxia \- Seizures (less common) \- Cerebral atrophy \- Cerebellar hypoplasia \- Thin corpus callosum \- Decreased white matter volume \- Perisylvian polymicrogyria \- Delayed myelination Peripheral Nervous System \- Loss of myelinated fibers seen on sural nerve biopsy (1 patient) \- Neurogenic pattern seen on EMG \- Axonal neuropathy seen on nerve conduction studies Behavioral Psychiatric Manifestations \- Autism spectrum disorder (in some patients) \- Behavioral abnormalities (in some patients) MISCELLANEOUS \- De novo mutation \- Variable severity MOLECULAR BASIS \- Caused by mutation in the mitogen-activated protein kinase 8-interacting protein 3 gene (MAPK8IP3, 605431.0001 ) ▲ 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-aminobutyric 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	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES	None	26,412	omim	https://www.omim.org/entry/618443	2019-09-22T15:41:55	{"omim": ["618443"]}
A number sign (#) is used with this entry because of evidence that immunodeficiency-11B with atopic dermatitis (IMD11B) is caused by heterozygous mutation in the CARD11 gene (607210) on chromosome 7p22. Biallelic mutation in the CARD11 gene causes IMD11A (615206). Description IMD11B is an autosomal dominant disorder of immune dysfunction characterized by onset of moderate to severe atopic dermatitis in early childhood. Some patients may have recurrent infections and other variable immune abnormalities. Laboratory studies show defects in T-cell activation, increased IgE, and eosinophilia (summary by Ma et al., 2017). Clinical Features Ma et al. (2017) reported 8 patients from 4 unrelated families with moderate to severe atopic dermatitis associated with variable occurrence of recurrent or severe infections, including pneumonia, molluscum, abscesses, and bacteremia. Five patients had asthma and 3 had food allergies. One patient had ulcerative colitis and transient hypogammaglobulinemia, and another developed a peripheral T-cell lymphoma. Five patients had elevated IgE and 6 had eosinophilia. Less common immune abnormalities included B-cell lymphopenia (2 patients) and low IgM (3 patients). The disorder improved over time in most patients. Inheritance The transmission pattern of IMD11B in the family reported by Ma et al. (2017) was consistent with autosomal dominant inheritance. Molecular Genetics In affected members of 4 unrelated families with IMD11B, Ma et al. (2017) identified 4 heterozygous mutations in the CARD11 gene (607210.0007-607210.0010). In vitro functional expression studies in CARD11-deficient T cells showed that all the mutations resulted in impaired activation of both NFKB (see 164011) and mTORC1 (see 601231) and disrupted the ability of wildtype CARD11 to activate these signaling pathways, consistent with loss of function and a dominant-negative effect. Patient T cells showed defective activation and proliferation compared to wildtype, as well as skewing toward T2 helper cells and decreased levels of gamma-interferon, consistent with an atopic predisposition. The signaling defects were partially rescued by supplementation with glutamine, which requires CARD11 for import into T cells; these findings provided evidence for a possible treatment strategy. INHERITANCE \- Autosomal dominant RESPIRATORY \- Pneumonia \- Asthma SKIN, NAILS, & HAIR Skin \- Atopic dermatitis, severe \- Molluscum infection \- Abscesses IMMUNOLOGY \- Immune dysfunction \- Food allergies \- Defects in T-cell activation and proliferation \- Increased serum IgE \- Eosinophilia \- Decreased B cells (in some patients) \- Low IgM (in some patients) MISCELLANEOUS \- Onset in childhood \- Atopic dermatitis tends to improve with age MOLECULAR BASIS \- Caused by mutation in the caspase recruitment domain-containing protein 11 gene (CARD11, 607210.0007 ) ▲ 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-aminobutyric 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	IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS	c4539957	26,413	omim	https://www.omim.org/entry/617638	2019-09-22T15:45:17	{"omim": ["617638"], "synonyms": ["Alternative titles", "ATOPIC DERMATITIS, ELEVATED IgE, AND EOSINOPHILIA"]}
Disorder of consciousness caused by severe brain damage Persistent vegetative state SpecialtyNeurology A persistent vegetative state (PVS) or post-coma unresponsiveness[1] (PCU) is a disorder of consciousness in which patients with severe brain damage are in a state of partial arousal rather than true awareness. After four weeks in a vegetative state (VS), the patient is classified as in a persistent vegetative state. This diagnosis is classified as a permanent vegetative state some months (three in the US and six in the UK) after a non-traumatic brain injury or one year after a traumatic injury. Today, doctors and neuroscientists prefer to call the state of consciousness a syndrome,[2] primarily because of ethical questions about whether a patient can be called "vegetative" or not.[3] ## Contents * 1 Definition * 1.1 Medical definition * 1.2 Lack of legal clarity * 1.3 Vegetative state * 1.4 Persistent vegetative state * 2 Signs and symptoms * 2.1 Recovery * 3 Causes * 4 Diagnosis * 4.1 Diagnostic experiments * 4.2 Misdiagnoses * 5 Treatment * 5.1 Zolpidem * 6 Epidemiology * 7 History * 8 Society and culture * 8.1 Ethics and policy * 8.2 Notable cases * 9 See also * 10 References * 11 External links ## Definition[edit] There are several definitions that vary by technical versus layman's usage. There are different legal implications in different countries. ### Medical definition[edit] A wakeful unconscious state that lasts longer than a few weeks is referred to as a persistent (or 'continuing') vegetative state.[4] ### Lack of legal clarity[edit] Unlike brain death, permanent vegetative state (PVS) is only recognized by statute law as death in very few legal systems. In the US, courts have required petitions before termination of life support that demonstrate that any recovery of cognitive functions above a vegetative state is assessed as impossible by authoritative medical opinion.[5] In England, Wales and Scotland, the legal precedent for withdrawal of clinically assisted nutrition and hydration in cases of patients in a PVS was set in 1993 in the case of Tony Bland, who sustained catastrophic anoxic brain injury in the 1989 Hillsborough disaster.[4] An application to the Court of Protection is no longer required before nutrition and hydration can be withdrawn or withheld from PVS (or 'minimally conscious' – MCS) patients.[6] This legal grey area has led to vocal advocates that those in PVS should be allowed to die. Others are equally determined that, if recovery is at all possible, care should continue. The existence of a small number of diagnosed PVS cases that have eventually resulted in improvement makes defining recovery as "impossible" particularly difficult in a legal sense.[7] This legal and ethical issue raises questions about autonomy, quality of life, appropriate use of resources, the wishes of family members, and professional responsibilities. ### Vegetative state[edit] The vegetative state is a chronic or long-term condition. This condition differs from a coma: a coma is a state that lacks both awareness and wakefulness. Patients in a vegetative state may have awoken from a coma, but still have not regained awareness. In the vegetative state patients can open their eyelids occasionally and demonstrate sleep-wake cycles, but completely lack cognitive function. The vegetative state is also called a "coma vigil". The chances of regaining awareness diminish considerably as the time spent in the vegetative state increases.[8] ### Persistent vegetative state[edit] Persistent vegetative state is the standard usage (except in the UK) for a medical diagnosis, made after numerous neurological and other tests, that due to extensive and irreversible brain damage a patient is highly unlikely ever to achieve higher functions above a vegetative state. This diagnosis does not mean that a doctor has diagnosed improvement as impossible, but does open the possibility, in the US, for a judicial request to end life support.[7] Informal guidelines hold that this diagnosis can be made after four weeks in a vegetative state. US caselaw has shown that successful petitions for termination have been made after a diagnosis of a persistent vegetative state, although in some cases, such as that of Terri Schiavo, such rulings have generated widespread controversy. In the UK, the term is discouraged in favor of two more precisely defined terms that have been strongly recommended by the Royal College of Physicians (RCP). These guidelines recommend using a continuous vegetative state for patients in a vegetative state for more than four weeks. A medical determination of a permanent vegetative state can be made if, after exhaustive testing and a customary 12 months of observation,[9] a medical diagnosis is made that it is impossible by any informed medical expectations that the mental condition will ever improve.[10] Hence, a "continuous vegetative state" in the UK may remain the diagnosis in cases that would be called "persistent" in the US or elsewhere. While the actual testing criteria for a diagnosis of "permanent" in the UK are quite similar to the criteria for a diagnosis of "persistent" in the US, the semantic difference imparts in the UK a legal presumption that is commonly used in court applications for ending life support.[9] The UK diagnosis is generally only made after 12 months of observing a static vegetative state. A diagnosis of a persistent vegetative state in the US usually still requires a petitioner to prove in court that recovery is impossible by informed medical opinion, while in the UK the "permanent" diagnosis already gives the petitioner this presumption and may make the legal process less time-consuming.[7] In common usage, the "permanent" and "persistent" definitions are sometimes conflated and used interchangeably. However, the acronym "PVS" is intended to define a "persistent vegetative state", without necessarily the connotations of permanence,[citation needed] and is used as such throughout this article. Bryan Jennett, who originally coined the term "persistent vegetative state", has now recommended using the UK division between continuous and permanent in his book The Vegetative State, arguing that "the 'persistent' component of this term ... may seem to suggest irreversibility".[11] The Australian National Health and Medical Research Council has suggested "post coma unresponsiveness" as an alternative term for "vegetative state" in general.[12] ## Signs and symptoms[edit] Most PVS patients are unresponsive to external stimuli and their conditions are associated with different levels of consciousness. Some level of consciousness means a person can still respond, in varying degrees, to stimulation. A person in a coma, however, cannot. In addition, PVS patients often open their eyes in response to feeding, which has to be done by others; they are capable of swallowing, whereas patients in a coma subsist with their eyes closed (Emmett, 1989). Cerebral cortical function (e.g. communication, thinking, purposeful movement, etc) is lost while brainstem functions (e.g. breathing, maintaining circulation and hemodynamic stability, etc) are preserved. Non-cognitive upper brainstem functions such as eye-opening, occasional vocalizations (e.g. crying, laughing), maintaining normal sleep patterns, and spontaneous non-purposeful movements often remain intact. PVS patients' eyes might be in a relatively fixed position, or track moving objects, or move in a disconjugate (i.e., completely unsynchronized) manner. They may experience sleep-wake cycles, or be in a state of chronic wakefulness. They may exhibit some behaviors that can be construed as arising from partial consciousness, such as grinding their teeth, swallowing, smiling, shedding tears, grunting, moaning, or screaming without any apparent external stimulus. Individuals in PVS are seldom on any life-sustaining equipment other than a feeding tube because the brainstem, the center of vegetative functions (such as heart rate and rhythm, respiration, and gastrointestinal activity) is relatively intact (Emmett, 1989). ### Recovery[edit] Many people emerge spontaneously from a vegetative state within a few weeks.[11] The chances of recovery depend on the extent of injury to the brain and the patient's age – younger patients having a better chance of recovery than older patients. A 1994 report found that of those who were in a vegetative state a month after a trauma, 54% had regained consciousness by a year after the trauma, whereas 28% had died and 18% were still in the vegetative state. But for non-traumatic injuries such as strokes, only 14% had recovered consciousness at one year, 47% had died, and 39% were still vegetative. Patients who were vegetative six months after the initial event were much less likely to have recovered consciousness a year after the event than in the case of those who were simply reported vegetative at one month.[13] A New Scientist article from 2000 gives a pair of graphs[14] showing changes of patient status during the first 12 months after head injury and after incidents depriving the brain of oxygen.[15] After a year, the chances that a PVS patient will regain consciousness are very low[16] and most patients who do recover consciousness experience significant disability. The longer a patient is in a PVS, the more severe the resulting disabilities are likely to be. Rehabilitation can contribute to recovery, but many patients never progress to the point of being able to take care of themselves. The medical literature also includes case reports of the recovery of a small number of patients following the removal of assisted respiration with cold oxygen.[17] The researchers found that in many nursing homes and hospitals unheated oxygen is given to non-responsive patients via tracheal intubation. This bypasses the warming of the upper respiratory tract and causes a chilling of aortic blood and chilling of the brain which the authors believe may contribute to the person's nonresponsive state. The researchers describe a small number of cases in which removal of the chilled oxygen was followed by recovery from the PVS and recommend either warming of oxygen with a heated nebulizer or removal of the assisted oxygen if it is no longer needed.[17] The authors further recommend additional research to determine if this chilling effect may either delay recovery or even may contribute to brain damage. There are two dimensions of recovery from a persistent vegetative state: recovery of consciousness and recovery of function. Recovery of consciousness can be verified by reliable evidence of awareness of self and the environment, consistent voluntary behavioral responses to visual and auditory stimuli, and interaction with others. Recovery of function is characterized by communication, the ability to learn and to perform adaptive tasks, mobility, self-care, and participation in recreational or vocational activities. Recovery of consciousness may occur without functional recovery, but functional recovery cannot occur without recovery of consciousness (Ashwal, 1994)incomplete citation[citation needed]. ## Causes[edit] There are three main causes of PVS (persistent vegetative state): 1. Acute traumatic brain injury 2. Non-traumatic: neurodegenerative disorder or metabolic disorder of the brain 3. Severe congenital abnormality of the central nervous system Medical books (such as Lippincott, Williams, and Wilkins. (2007). In A Page: Pediatric Signs and Symptoms) describe several potential causes of PVS, which are as follows: * Bacterial, viral, or fungal infection, including meningitis * Increased intracranial pressure, such as a tumor or abscess * Vascular pressure which causes intracranial hemorrhaging or stroke * Hypoxic ischemic injury (hypotension, cardiac arrest, arrhythmia, near-drowning) * Toxins such as uremia, ethanol, atropine, opiates, lead, colloidal silver[18] * Trauma: Concussion, contusion * Seizure, both nonconvulsive status epilepticus and postconvulsive state (postictal state) * Electrolyte imbalance, which involves hyponatremia, hypernatremia, hypomagnesemia, hypoglycemia, hyperglycemia, hypercalcemia, and hypocalcemia * Postinfectious: Acute disseminated encephalomyelitis (ADEM) * Endocrine disorders such as adrenal insufficiency and thyroid disorders * Degenerative and metabolic diseases including urea cycle disorders, Reye syndrome, and mitochondrial disease * Systemic infection and sepsis * Hepatic encephalopathy In addition, these authors claim that doctors sometimes use the mnemonic device AEIOU-TIPS to recall portions of the differential diagnosis: Alcohol ingestion and acidosis, Epilepsy and encephalopathy, Infection, Opiates, Uremia, Trauma, Insulin overdose or inflammatory disorders, Poisoning and psychogenic causes, and Shock. ## Diagnosis[edit] Despite converging agreement about the definition of persistent vegetative state, recent reports have raised concerns about the accuracy of diagnosis in some patients, and the extent to which, in a selection of cases, residual cognitive functions may remain undetected and patients are diagnosed as being in a persistent vegetative state. Objective assessment of residual cognitive function can be extremely difficult as motor responses may be minimal, inconsistent, and difficult to document in many patients, or may be undetectable in others because no cognitive output is possible (Owen et al., 2002). In recent years, a number of studies have demonstrated an important role for functional neuroimaging in the identification of residual cognitive function in persistent vegetative state; this technology is providing new insights into cerebral activity in patients with severe brain damage. Such studies, when successful, may be particularly useful where there is concern about the accuracy of the diagnosis and the possibility that residual cognitive function has remained undetected. ### Diagnostic experiments[edit] Researchers have begun to use functional neuroimaging studies to study implicit cognitive processing in patients with a clinical diagnosis of persistent vegetative state. Activations in response to sensory stimuli with positron emission tomography (PET), functional magnetic resonance imaging (fMRI), and electrophysiological methods can provide information on the presence, degree, and location of any residual brain function. However, use of these techniques in people with severe brain damage is methodologically, clinically, and theoretically complex and needs careful quantitative analysis and interpretation. For example, PET studies have shown the identification of residual cognitive function in persistent vegetative state. That is, an external stimulation, such as a painful stimulus, still activates "primary" sensory cortices in these patients but these areas are functionally disconnected from "higher order" associative areas needed for awareness. These results show that parts of the cortex are indeed still functioning in "vegetative" patients (Matsuda et al., 2003). In addition, other PET studies have revealed preserved and consistent responses in predicted regions of auditory cortex in response to intelligible speech stimuli. Moreover, a preliminary fMRI examination revealed partially intact responses to semantically ambiguous stimuli, which are known to tap higher aspects of speech comprehension (Boly, 2004). Furthermore, several studies have used PET to assess the central processing of noxious somatosensory stimuli in patients in PVS. Noxious somatosensory stimulation activated midbrain, contralateral thalamus, and primary somatosensory cortex in each and every PVS patient, even in the absence of detectable cortical evoked potentials. In conclusion, somatosensory stimulation of PVS patients, at intensities that elicited pain in controls, resulted in increased neuronal activity in primary somatosensory cortex, even if resting brain metabolism was severely impaired. However, this activation of primary cortex seems to be isolated and dissociated from higher-order associative cortices (Laureys et al., 2002). Also, there is evidence of partially functional cerebral regions in catastrophically injured brains. To study five patients in PVS with different behavioral features, researchers employed PET, MRI and magnetoencephalographic (MEG) responses to sensory stimulation. In three of the five patients, co-registered PET/MRI correlate areas of relatively preserved brain metabolism with isolated fragments of behavior. Two patients had suffered anoxic injuries and demonstrated marked decreases in overall cerebral metabolism to 30–40% of normal. Two other patients with non-anoxic, multifocal brain injuries demonstrated several isolated brain regions with higher metabolic rates, that ranged up to 50–80% of normal. Nevertheless, their global metabolic rates remained <50% of normal. MEG recordings from three PVS patients provide clear evidence for the absence, abnormality or reduction of evoked responses. Despite major abnormalities, however, these data also provide evidence for localized residual activity at the cortical level. Each patient partially preserved restricted sensory representations, as evidenced by slow evoked magnetic fields and gamma band activity. In two patients, these activations correlate with isolated behavioral patterns and metabolic activity. Remaining active regions identified in the three PVS patients with behavioral fragments appear to consist of segregated corticothalamic networks that retain connectivity and partial functional integrity. A single patient who suffered severe injury to the tegmental mesencephalon and paramedian thalamus showed widely preserved cortical metabolism, and a global average metabolic rate of 65% of normal. The relatively high preservation of cortical metabolism in this patient defines the first functional correlate of clinical–pathological reports associating permanent unconsciousness with structural damage to these regions. The specific patterns of preserved metabolic activity identified in these patients reflect novel evidence of the modular nature of individual functional networks that underlie conscious brain function. The variations in cerebral metabolism in chronic PVS patients indicate that some cerebral regions can retain partial function in catastrophically injured brains (Schiff et al., 2002). ### Misdiagnoses[edit] Statistical PVS misdiagnosis is common. An example study with 40 patients in the United Kingdom reported 43% of their patients classified as PVS were believed so and another 33% had recovered whilst the study was underway.[19] Some PVS cases may actually be a misdiagnosis of patients being in an undiagnosed minimally conscious state.[20] Since the exact diagnostic criteria of the minimally conscious state were only formulated in 2002, there may be chronic patients diagnosed as PVS before the secondary notion of the minimally conscious state became known. Whether or not there is any conscious awareness with a patient's vegetative state is a prominent issue. Three completely different aspects of this should be distinguished. First, some patients can be conscious simply because they are misdiagnosed (see above). In fact, they are not in vegetative states. Second, sometimes a patient was correctly diagnosed but is then examined during the early stages of recovery. Third, perhaps some day the notion itself of vegetative states will change so to include elements of conscious awareness. Inability to disentangle these three example cases causes confusion. An example of such confusion is the response to an experiment using functional magnetic resonance imaging which revealed that a woman diagnosed with PVS was able to activate predictable portions of her brain in response to the tester's requests that she imagine herself playing tennis or moving from room to room in her house. The brain activity in response to these instructions was indistinguishable from those of healthy patients.[21][22][23] In 2010, Martin Monti and fellow researchers, working at the MRC Cognition and Brain Sciences Unit at the University of Cambridge, reported in an article in the New England Journal of Medicine[24] that some patients in persistent vegetative states responded to verbal instructions by displaying different patterns of brain activity on fMRI scans. Five out of a total of 54 diagnosed patients were apparently able to respond when instructed to think about one of two different physical activities. One of these five was also able to "answer" yes or no questions, again by imagining one of these two activities.[25] It is unclear, however, whether the fact that portions of the patients' brains light up on fMRI could help these patients assume their own medical decision making.[25] In November 2011, a publication in The Lancet presented bedside EEG apparatus and indicated that its signal could be used to detect awareness in three of 16 patients diagnosed in the vegetative state.[26] ## Treatment[edit] Currently no treatment for vegetative state exists that would satisfy the efficacy criteria of evidence-based medicine. Several methods have been proposed which can roughly be subdivided into four categories: pharmacological methods, surgery, physical therapy, and various stimulation techniques. Pharmacological therapy mainly uses activating substances such as tricyclic antidepressants or methylphenidate. Mixed results have been reported using dopaminergic drugs such as amantadine and bromocriptine and stimulants such as dextroamphetamine.[27] Surgical methods such as deep brain stimulation are used less frequently due to the invasiveness of the procedures. Stimulation techniques include sensory stimulation, sensory regulation, music and musicokinetic therapy, social-tactile interaction, and cortical stimulation.[28] ### Zolpidem[edit] There is limited evidence that the hypnotic drug zolpidem has an effect.[29] The results of the few scientific studies that have been published so far on the effectiveness of zolpidem have been contradictory.[30][31] ## Epidemiology[edit] In the United States, it is estimated that there may be between 15,000 and 40,000 patients who are in a persistent vegetative state, but due to poor nursing home records exact figures are hard to determine.[32] ## History[edit] The syndrome was first described in 1940 by Ernst Kretschmer who called it apallic syndrome.[33] The term persistent vegetative state was coined in 1972 by Scottish spinal surgeon Bryan Jennett and American neurologist Fred Plum to describe a syndrome that seemed to have been made possible by medicine's increased capacities to keep patients' bodies alive.[11][34] ## Society and culture[edit] ### Ethics and policy[edit] An ongoing debate exists as to how much care, if any, patients in a persistent vegetative state should receive in health systems plagued by limited resources. In a case before the New Jersey Superior Court, Betancourt v. Trinitas Hospital, a community hospital sought a ruling that dialysis and CPR for such a patient constitutes futile care. An American bioethicist, Jacob M. Appel, argued that any money spent treating PVS patients would be better spent on other patients with a higher likelihood of recovery.[35] The patient died naturally prior to a decision in the case, resulting in the court finding the issue moot. In 2010, British and Belgian researchers reported in an article in the New England Journal of Medicine that some patients in persistent vegetative states actually had enough consciousness to "answer" yes or no questions on fMRI scans.[36] However, it is unclear whether the fact that portions of the patients' brains light up on fMRI will help these patient assume their own medical decision making.[36] Professor Geraint Rees, Director of the Institute of Cognitive Neuroscience at University College London, responded to the study by observing that, "As a clinician, it would be important to satisfy oneself that the individual that you are communicating with is competent to make those decisions. At the moment it is premature to conclude that the individual able to answer 5 out of 6 yes/no questions is fully conscious like you or I."[36] In contrast, Jacob M. Appel of the Mount Sinai Hospital told the Telegraph that this development could be a welcome step toward clarifying the wishes of such patients. Appel stated: "I see no reason why, if we are truly convinced such patients are communicating, society should not honour their wishes. In fact, as a physician, I think a compelling case can be made that doctors have an ethical obligation to assist such patients by removing treatment. I suspect that, if such individuals are indeed trapped in their bodies, they may be living in great torment and will request to have their care terminated or even active euthanasia."[36] ### Notable cases[edit] * Tony Bland – first patient in English legal history to be allowed to die * Paul Brophy – first American to die after court-authorization * Sunny von Bülow – lived almost 28 years in a persistent vegetative state until her death * Gustavo Cerati – Argentine singer-songwriter, composer and producer who died after four years in a coma * Prichard Colón – Puerto Rican former professional boxer and gold medal winner who spent years in a vegetative state after a bout * Nancy Cruzan – American woman involved in a landmark United States Supreme Court case * Gary Dockery – American police officer who entered, emerged and later reentered a persistent vegetative state * Eluana Englaro – Italian woman from Lecco whose life was ended after a legal case after spending 17 years in a vegetative state * Elaine Esposito – American woman who was a previous record holder for having spent 37 years in a coma * Lia Lee – Hmong person who spent 26 years in a vegetative state and was the subject of a 1997 book by Anne Fadiman * Haleigh Poutre * Karen Ann Quinlan * Terri Schiavo * Aruna Shanbaug – Indian woman in persistent vegetative state for 42 years until her death. Due to her case, the Supreme Court of India allowed passive euthanasia in the country. * Ariel Sharon * Chayito Valdez * Vice Vukov * Helga Wanglie * Otto Warmbier ## See also[edit] * Anencephaly * Brain death * Botulism * Catatonia * Karolina Olsson * Locked-in syndrome * Process Oriented Coma Work, for an approach to working with residual consciousness in patients in comatose and persistent vegetative states ## References[edit] 1. ^ Coma and brain injury Synapse.org 2. ^ Laureys, Steven; Celesia, Gastone G; Cohadon, Francois; Lavrijsen, Jan; León-Carrión, José; Sannita, Walter G; Sazbon, Leon; Schmutzhard, Erich; von Wild, Klaus R (2010-11-01). "Unresponsive wakefulness syndrome: a new name for the vegetative state or apallic syndrome". BMC Medicine. 8: 68. doi:10.1186/1741-7015-8-68. ISSN 1741-7015. PMC 2987895. PMID 21040571. 3. ^ Laureys S, Celesia GG, Cohadon F, Lavrijsen J, León-Carrión J, Sannita WG, Sazbon L, Schmutzhard E, von Wild KR, Zeman A, Dolce G (2010). "Unresponsive wakefulness syndrome: a new name for the vegetative state or apallic syndrome". BMC Med. 8: 68. doi:10.1186/1741-7015-8-68. PMC 2987895. PMID 21040571. 4. ^ a b Royal College of Physicians 2013 Prolonged Disorders of Consciousness: National Clinical Guidelines, https://www.rcplondon.ac.uk/resources/prolonged-disorders-consciousness-national-clinical-guidelines 5. ^ Jennett, B (1999). "Should cases of permanent vegetative state still go to court?. Britain should follow other countries and keep the courts for cases of dispute". BMJ (Clinical Research Ed.). 319 (7213): 796–97. doi:10.1136/bmj.319.7213.796. PMC 1116645. PMID 10496803. 6. ^ Royal College of Physicians 2013 Prolonged Disorders of Consciousness: National Clinical Guidelines 7. ^ a b c Diagnosing The Permanent Vegetative State by Ronald Cranford, MD 8. ^ PVS, The Multi-Society Task Force on (1994-05-26). "Medical Aspects of the Persistent Vegetative State". New England Journal of Medicine. 330 (21): 1499–1508. doi:10.1056/NEJM199405263302107. ISSN 0028-4793. PMID 7818633. 9. ^ a b Wade, DT; Johnston, C (1999). "The permanent vegetative state: Practical guidance on diagnosis and management". BMJ (Clinical Research Ed.). 319 (7213): 841–44. doi:10.1136/bmj.319.7213.841. PMC 1116668. PMID 10496834. 10. ^ Guidance on diagnosis and management: Report of a working party of the Royal College of Physicians. Royal College of Physicians: London. 1996. 11. ^ a b c Bryan Jennett. The Vegetative State: Medical facts, ethical and legal dilemmas (PDF). University of Glasgow: Scotland. Retrieved 2007-11-09. 12. ^ Post-coma unresponsiveness (Vegetative State): a clinical framework for diagnosis. National Health and Medical Research Council (NHMRC): Canberra. 2003. Archived from the original on 2006-08-20. 13. ^ Jennett, B (2002). "Editorial: The vegetative state. The definition, diagnosis, prognosis and pathology of this state are discussed, together with the legal implications". British Medical Journal. 73 (4): 355–57. doi:10.1136/jnnp.73.4.355. PMC 1738081. PMID 12235296. Archived from the original on 2014-01-16. Retrieved 2012-06-11. 14. ^ "New Scientist". 2014-02-02. Archived from the original on 2017-07-11. Retrieved 2019-01-07. 15. ^ Nell Boyce (July 8, 2000). "Is anyone in there?". New Scientist: 36. 16. ^ Schapira, Anthony (2006). Neurology and Clinical Neuroscience. Mosby. p. 126. ISBN 978-0323033541. 17. ^ a b "Prolonged unintended brain cooling may inhibit recovery from brain injuries: Case study and literature review". Medical Science Monitor. Retrieved 2020-11-16. 18. ^ Mirsattari SM, Hammond RR, Sharpe MD, Leung FY, Young GB (April 2004). "Myoclonic status epilepticus following repeated oral ingestion of colloidal silver". Neurology. 62 (8): 1408–10. doi:10.1212/01.WNL.0000120671.73335.EC. PMID 15111684. S2CID 30767207. 19. ^ K Andrews; L Murphy; R Munday; C Littlewood (1996-07-06). "Misdiagnosis of the vegetative state: retrospective study in a rehabilitation unit". British Medical Journal. 313 (7048): 13–16. doi:10.1136/bmj.313.7048.13. PMC 2351462. PMID 8664760. 20. ^ Giacino JT, et al. (2002). "Unknown title". Neurology. 58 (3): 349–53. doi:10.1212/wnl.58.3.349. PMID 11839831. 21. ^ Owen AM, Coleman MR, Boly M, Davis MH, Laureys S, Pickard JD (2006-09-08). "Detecting awareness in the vegetative state". Science. 313 (5792): 1402. CiteSeerX 10.1.1.1022.2193. doi:10.1126/science.1130197. PMID 16959998. S2CID 54524352. 22. ^ "Vegetative patient 'communicates': A patient in a vegetative state can communicate just through using her thoughts, according to research". BBC News. September 7, 2006. Retrieved 2008-08-14. 23. ^ Stein R (September 8, 2006). "Vegetative patient's brain active in test: Unprecedented experiment shows response to instructions to imagine playing tennis". San Francisco Chronicle. Retrieved 2007-09-26. 24. ^ Willful Modulation of Brain Activity in Disorders of Consciousness at nejm.org 25. ^ a b Richard Alleyne and Martin Beckford, Patients in 'vegetative' state can think and communicate,Telegraph (United Kingdom), Feb 4, 2010 26. ^ Cruse Damian; et al. (2011). "Bedside detection of awareness in the vegetative state: a cohort study". The Lancet. 378 (9809): 2088–94. CiteSeerX 10.1.1.368.3928. doi:10.1016/S0140-6736(11)61224-5. PMID 22078855. S2CID 1926221. 27. ^ Dolce, Giuliano; Sazbon, Leon (2002). The post-traumatic vegetative state. ISBN 978-1588901163. 28. ^ Georgiopoulos M, et al. (2010). "Vegetative state and minimally conscious state: a review of the therapeutic interventions". Stereotact Funct Neurosurg. 88 (4): 199–207. doi:10.1159/000314354. PMID 20460949. 29. ^ Georgiopoulos, M; Katsakiori, P; Kefalopoulou, Z; Ellul, J; Chroni, E; Constantoyannis, C (2010). "Vegetative state and minimally conscious state: a review of the therapeutic interventions". Stereotactic and Functional Neurosurgery. 88 (4): 199–207. doi:10.1159/000314354. PMID 20460949.CS1 maint: multiple names: authors list (link) 30. ^ Snyman, N; Egan, JR; London, K; Howman-Giles, R; Gill, D; Gillis, J; Scheinberg, A (2010). "Zolpidem for persistent vegetative state – a placebo-controlled trial in pediatrics". Neuropediatrics. 41 (5): 223–27. doi:10.1055/s-0030-1269893. PMID 21210338. 31. ^ Whyte, J; Myers, R (2009). "Incidence of clinically significant responses to zolpidem among patients with disorders of consciousness: a preliminary placebo controlled trial". Am J Phys Med Rehabil. 88 (5): 410–18. doi:10.1097/PHM.0b013e3181a0e3a0. PMID 19620954. S2CID 19666318. 32. ^ Hirsch, Joy (2005-05-02). "Raising consciousness". The Journal of Clinical Investigation. 115 (5): 1102. doi:10.1172/JCI25320. PMC 1087197. PMID 15864333. 33. ^ Ernst Kretschmer (1940). "Das apallische Syndrom". Neurol. Psychiat. 169: 576–79. doi:10.1007/BF02871384. 34. ^ B Jennett; F Plum (1972). "Persistent vegetative state after brain damage: A syndrome in search of a name". The Lancet. 1 (7753): 734–737. doi:10.1016/S0140-6736(72)90242-5. PMID 4111204. 35. ^ Appel on Betancourt v. Trinitas 36. ^ a b c d Richard Alleyne and Martin Beckford, Patients in 'vegetative' state can think and communicate, Telegraph (United Kingdom), Feb 4, 2010 This article contains text from the NINDS public domain pages on TBI. [1] and [2]. ## External links[edit] * Sarà, M.; Sacco, S.; Cipolla, F.; Onorati, P.; Scoppetta, C; Albertini, G; Carolei, A (2007). "An unexpected recovery from permanent vegetative state". Brain Injury. 21 (1): 101–03. doi:10.1080/02699050601151761. PMID 17364525. S2CID 22730610. * Canavero S, et al. (2009). "Recovery of consciousness following bifocal extradural cortical stimulation in a permanently vegetative patient". Journal of Neurology. 256 (5): 834–36. doi:10.1007/s00415-009-5019-4. PMID 19252808. S2CID 17087007. * Canavero S (editor) (2009). Textbook of therapeutic cortical stimulation. New York: Nova Science. ISBN 978-1606925379.CS1 maint: extra text: authors list (link) * Canavero S, Massa-Micon B, Cauda F, Montanaro E (May 2009). "Bifocal extradural cortical stimulation-induced recovery of consciousness in the permanent post-traumatic vegetative state". J Neurol. 256 (5): 834–36. doi:10.1007/s00415-009-5019-4. PMID 19252808. S2CID 17087007. * Connolly, Kate. "Car crash victim trapped in a coma for 23 years was conscious", The Guardian, November 23, 2009. * Machado, Calixto, et al. "A Cuban Perspective on Management of Persistent Vegetative State". MEDICC Review 2012;14(1):44–48. Classification D * ICD-9-CM: 780.03 * MeSH: D018458 External resources * Patient UK: Persistent vegetative state * v * t * e Disorders of consciousness Unconsciousness * Minimally conscious state * Persistent vegetative state * Obtundation * Coma * Brain stem death * Stupor * Sopor * Sleep * Somnolence * Cataplexy Syncope * Heat syncope * Vasovagal episode Alteration of consciousness * Locked-in syndrome * v * t * e Death In medicine Cell death * Necrosis * Avascular necrosis * Coagulative necrosis * Liquefactive necrosis * Gangrenous necrosis * Caseous necrosis * Fat necrosis * Fibrinoid necrosis * Temporal lobe necrosis * Programmed cell death * AICD * Anoikis * Apoptosis * Autophagy * Intrinsic apoptosis * Necroptosis * Paraptosis * Parthanatos * Phenoptosis * Pseudoapoptosis * Pyroptosis * Autolysis * Autoschizis * Eschar * Immunogenic cell death * Ischemic cell death * Pyknosis * Karyorrhexis * Karyolysis * Mitotic catastrophe * Suicide gene * Abortion * Accidental death * Autopsy 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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-aminobutyric 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	Persistent vegetative state	c0917808	26,414	wikipedia	https://en.wikipedia.org/wiki/Persistent_vegetative_state	2021-01-18T19:03:49	{"mesh": ["D018458"], "wikidata": ["Q139720"]}
Brain disease that is characterized as an acute inflammation of the brain with flu-like symptoms Encephalitis MRI scan image shows high signal in the temporal lobes and right inferior frontal gyrus in someone with HSV encephalitis. SpecialtyNeurology, Infectious disease SymptomsHeadache, fever, confusion, stiff neck, vomiting[1] ComplicationsSeizures, trouble speaking, memory problems, problems hearing[1] DurationWeeks to months for recovery[1] TypesHerpes simplex, West Nile, rabies, Eastern equine, others[2] CausesInfection, autoimmune, certain medication, unknown[2] Diagnostic methodBased on symptoms, supported by blood tests, medical imaging, analysis of cerebrospinal fluid[2] TreatmentAntiviral medication, anticonvulsants, corticosteroids, artificial respiration[1] PrognosisVariable[1] Frequency4.3 million (2015)[3] Deaths150,000 (2015)[4] Encephalitis is inflammation of the brain.[5] The severity can be variable with symptoms including headache, fever, confusion, a stiff neck, and vomiting.[1] Complications may include seizures, hallucinations, trouble speaking, memory problems, and problems with hearing.[1] Causes of encephalitis include viruses such as herpes simplex virus and rabies as well as bacteria, fungi, or parasites.[1][2] Other causes include autoimmune diseases and certain medications.[2] In many cases the cause remains unknown.[2] Risk factors include a weak immune system.[2] Diagnosis is typically based on symptoms and supported by blood tests, medical imaging, and analysis of cerebrospinal fluid.[2] Certain types are preventable with vaccines.[5] Treatment may include antiviral medications (such as acyclovir), anticonvulsants, and corticosteroids.[1] Treatment generally takes place in hospital.[1] Some people require artificial respiration.[1] Once the immediate problem is under control, rehabilitation may be required.[2] In 2015, encephalitis was estimated to have affected 4.3 million people and resulted in 150,000 deaths worldwide.[3][4] ## Contents * 1 Signs and symptoms * 2 Cause * 2.1 Viral * 2.2 Bacterial and other * 2.3 Limbic encephalitis * 2.4 Autoimmune encephalitis * 2.5 Encephalitis lethargica * 3 Diagnosis * 4 Prevention * 5 Treatment * 6 Prognosis * 7 Epidemiology * 8 Terminology * 9 See also * 10 References * 11 Further reading * 12 External links ## Signs and symptoms[edit] Adults with encephalitis present with acute onset of fever, headache, confusion, and sometimes seizures. Younger children or infants may present with irritability, poor appetite and fever.[6] Neurological examinations usually reveal a drowsy or confused person. Stiff neck, due to the irritation of the meninges covering the brain, indicates that the patient has either meningitis or meningoencephalitis.[7] ## Cause[edit] Rabies virus ### Viral[edit] Main articles: Viral encephalitis and Herpesviral encephalitis Viral encephalitis can occur either as a direct effect of an acute infection, or as one of the sequelae of a latent infection. The majority of viral cases of encephalitis have an unknown cause, however the most common identifiable cause of viral encephalitis is from herpes simplex infection.[8] Other causes of acute viral encephalitis are rabies virus, poliovirus, and measles virus.[9] Additional possible viral causes are arboviral flavivirus (St. Louis encephalitis, West Nile virus), bunyavirus (La Crosse strain), arenavirus (lymphocytic choriomeningitis virus), reovirus (Colorado tick virus), and henipavirus infections.[10][11] The Powassan virus is a rare cause of encephalitis.[12] ### Bacterial and other[edit] It can be caused by a bacterial infection, such as bacterial meningitis,[13] or may be a complication of a current infectious disease syphilis (secondary encephalitis).[14] Certain parasitic or protozoal infestations, such as toxoplasmosis, malaria, or primary amoebic meningoencephalitis, can also cause encephalitis in people with compromised immune systems. Lyme disease or Bartonella henselae may also cause encephalitis.[citation needed] Other bacterial pathogens, like Mycoplasma and those causing rickettsial disease, cause inflammation of the meninges and consequently encephalitis. A non-infectious cause includes acute disseminated encephalitis which is demyelinated.[15] ### Limbic encephalitis[edit] Main article: Limbic encephalitis Limbic encephalitis refers to inflammatory disease confined to the limbic system of the brain. The clinical presentation often includes disorientation, disinhibition, memory loss, seizures, and behavioral anomalies. MRI imaging reveals T2 hyperintensity in the structures of the medial temporal lobes, and in some cases, other limbic structures. Some cases of limbic encephalitis are of autoimmune origin.[16] ### Autoimmune encephalitis[edit] Main article: Autoimmune encephalitis Autoimmune encephalitis signs can include catatonia, psychosis, abnormal movements, and autonomic dysregulation. Antibody-mediated anti-N-methyl-D-aspartate-receptor encephalitis and Rasmussen encephalitis are examples of autoimmune encephalitis.[17] Anti-NMDA receptor encephalitis is the most common autoimmune form, and is accompanied by ovarian teratoma in 58 percent of affected women 18–45 years of age.[18] ### Encephalitis lethargica[edit] Main article: Encephalitis lethargica Encephalitis lethargica is identified by high fever, headache, delayed physical response, and lethargy. Individuals can exhibit upper body weakness, muscular pains, and tremors, though the cause of encephalitis lethargica is not currently known. From 1917 to 1928, an epidemic of encephalitis lethargica occurred worldwide.[19] ## Diagnosis[edit] Spinal tap on a newborn People should only be diagnosed with encephalitis if they have a decreased or altered level of consciousness, lethargy, or personality change for at least twenty-four hours without any other explainable cause.[20] Diagnosing encephalitis is done via a variety of tests:[21][22] * Brain scan, done by MRI, can determine inflammation and differentiate from other possible causes. * EEG, in monitoring brain activity, encephalitis will produce abnormal signal. * Lumbar puncture (spinal tap), this helps determine via a test using the cerebral-spinal fluid, obtained from the lumbar region. * Blood test * Urine analysis * Polymerase chain reaction (PCR) testing of the cerebrospinal fluid, to detect the presence of viral DNA which is a sign of viral encephalitis. ## Prevention[edit] Vaccination is available against tick-borne[23] and Japanese encephalitis[24] and should be considered for at-risk individuals. Post-infectious encephalomyelitis complicating smallpox vaccination is avoidable, for all intents and purposes, as smallpox is nearly eradicated.[25] Contraindication to Pertussis immunization should be observed in patients with encephalitis.[26] ## Treatment[edit] Treatment (which is based on supportive care) is as follows:[27] * Antiviral medications (if virus is cause) * Antibiotics, (if bacteria is cause) * Steroids are used to reduce brain swelling * Sedatives for restlessness * Acetaminophen for fever * Occupational and physical therapy (if brain is affected post-infection) Pyrimethamine-based maintenance therapy is often used to treat Toxoplasmic Encephalitis (TE), which is caused by Toxoplasma gondii and can be life-threatening for people with weak immune systems.[28] The use of highly active antiretroviral therapy (HAART), in conjunction with the established pyrimethamine-based maintenance therapy, decreases the chance of relapse in patients with HIV and TE from approximately 18% to 11%.[28] This is a significant difference as relapse may impact the severity and prognosis of disease and result in an increase in healthcare expenditure.[28] The effectiveness of intravenous immunoglobulin for the management of childhood encephalitis is unclear. Systematic reviews have been unable to draw firm conclusions because of a lack of randomised double-blind studies with sufficient numbers of patients and sufficient follow-up.[29] There is the possibility of a benefit of intravenous immunoglobulin for some forms of childhood encephalitis on some indicators such as length of hospital stay, time to stop spasms, time to regain consciousness, and time to resolution of neuropathic symptoms and fever.[29] Intravenous immunoglobulin for Japanese Encephalitis appeared to have no benefit when compared with placebo (pretend) treatment.[29] ## Prognosis[edit] Identification of poor prognostic factors include cerebral edema, status epilepticus, and thrombocytopenia.[30] In contrast, a normal encephalogram at the early stages of diagnosis is associated with high rates of survival.[30] ## Epidemiology[edit] Encephalitis deaths per million persons in 2012 0-0 1-1 2-2 3-4 5-9 10-14 15-24 25-45 The number of new cases a year of acute encephalitis in Western countries is 7.4 cases per 100,000 people per year. In tropical countries, the incidence is 6.34 per 100,000 people per year.[31] The number of cases of encephalitis has not changed much over time, with about 250,000 cases a year from 2005 to 2015 in the US. Approximately seven per 100,000 people were hospitalized for encephalitis in the US during this time.[30] In 2015, encephalitis was estimated to have affected 4.3 million people and resulted in 150,000 deaths worldwide.[4][3] Herpes simplex encephalitis has an incidence of 2–4 per million of the population per year.[32] ## Terminology[edit] Encephalitis with meningitis is known as meningoencephalitis, while encephalitis with involvement of the spinal cord is known as encephalomyelitis.[2] The word is from Ancient Greek ἐγκέφαλος, enképhalos "brain",[33] composed of ἐν, en, "in" and κεφαλή, kephalé, "head", and the medical suffix -itis "inflammation".[34] ## See also[edit] * Bickerstaff's encephalitis * Cerebritis * La Crosse encephalitis * Primary amoebic meningoencephalitis * Wernicke's encephalopathy * World Encephalitis Day * Zika virus ## References[edit] 1. ^ a b c d e f g h i j k "Meningitis and Encephalitis Information Page". NINDS. Archived from the original on 29 October 2017. Retrieved 29 October 2017. 2. ^ a b c d e f g h i j "Meningitis and Encephalitis Fact Sheet". National Institute of Neurological Disorders and Stroke. Archived from the original on 29 October 2017. Retrieved 29 October 2017. 3. ^ a b c GBD 2015 Disease and Injury Incidence and Prevalence Collaborators (8 October 2016). "Global, regional, and national incidence, prevalence, and years lived with disability for 310 diseases and injuries, 1990–2015: a systematic analysis for the Global Burden of Disease Study 2015". Lancet. 388 (10053): 1545–1602. doi:10.1016/S0140-6736(16)31678-6. PMC 5055577. PMID 27733282. 4. ^ a b c GBD 2015 Mortality and Causes of Death Collaborators (8 October 2016). "Global, regional, and national life expectancy, all-cause mortality, and cause-specific mortality for 249 causes of death, 1980–2015: a systematic analysis for the Global Burden of Disease Study 2015". Lancet. 388 (10053): 1459–1544. doi:10.1016/S0140-6736(16)31012-1. PMC 5388903. PMID 27733281. 5. ^ a b "Encephalitis". NHS Choices. 2016. Archived from the original on 22 September 2017. Retrieved 29 October 2017. 6. ^ "Symptoms of encephalitis". NHS. Archived from the original on 5 January 2015. Retrieved 5 January 2015. 7. ^ Shmaefsky, Brian; Babcock, Hilary (2010-01-01). Meningitis. Infobase Publishing. ISBN 9781438132167. Archived from the original on 2015-10-30. 8. ^ Roos, Karen L.; Tyler, Kenneth L. (2015). "Meningitis, Encephalitis, Brain Abscess, and Empyema". Harrison's Principles of Internal Medicine (19 ed.). New York, NY: McGraw-Hill Education. ISBN 9780071802154. 9. ^ Fisher, D. L.; Defres, S.; Solomon, T. (2015). "Measles-induced encephalitis". QJM. 108 (3): 177–182. doi:10.1093/qjmed/hcu113. PMID 24865261. 10. ^ Kennedy, P. G. E. (2004-03-01). "Viral Encephalitis: Causes, Differential Diagnosis, and Management". Journal of Neurology, Neurosurgery & Psychiatry. 75 (Suppl 1): i10–5. doi:10.1136/jnnp.2003.034280. PMC 1765650. PMID 14978145. Archived from the original on 2015-10-02. 11. ^ Broder, C. C; Geisbert, T. W; Xu, K; Nikolov, D. B; Wang, L. F; Middleton, D; Pallister, J; Bossart, K. N (2012). Henipavirus. Current Topics in Microbiology and Immunology. 359. pp. 197–223. doi:10.1007/82_2012_213. ISBN 978-3-642-29818-9. PMC 4465348. PMID 22481140. 12. ^ "Symptoms & Treatment \| Powassan \| CDC". www.cdc.gov. 4 December 2018. Retrieved 26 June 2019. 13. ^ Ashar, Bimal H.; Miller, Redonda G.; Sisson, Stephen D. (2012-01-01). Johns Hopkins Internal Medicine Board Review: Certification and Recertification. Elsevier Health Sciences. ISBN 978-1455706921. Archived from the original on 2015-11-29. 14. ^ Hama, Kiwa; Ishiguchi, Hiroshi; Tuji, Tomikimi; Miwa, Hideto; Kondo, Tomoyoshi (2008-01-01). "Neurosyphilis with Mesiotemporal Magnetic Resonance Imaging Abnormalities". Internal Medicine. 47 (20): 1813–7. doi:10.2169/internalmedicine.47.0983. PMID 18854635. 15. ^ "Encephalitis: Practice Essentials, Background, Pathophysiology". 2018-08-07. Archived from the original on 2015-08-03. Cite journal requires `\|journal=` (help) 16. ^ Larner, A. J. (2013-05-02). Neuropsychological Neurology: The Neurocognitive Impairments of Neurological Disorders. Cambridge University Press. ISBN 9781107607606. Archived from the original on 2015-10-30. 17. ^ Armangue, Thaís; Petit-Pedrol, Mar; Dalmau, Josep (2012-11-01). "Autoimmune Encephalitis in Children". Journal of Child Neurology. 27 (11): 1460–9. doi:10.1177/0883073812448838. PMC 3705178. PMID 22935553. 18. ^ Ropper, Allan H.; Dalmau, Josep; Graus, Francesc (March 2018). "Antibody-Mediated Encephalitis". New England Journal of Medicine. 378 (9): 840–851. doi:10.1056/NEJMra1708712. hdl:2445/147222. PMID 29490181. S2CID 3623281. 19. ^ encephalitis_lethargica at NINDS 20. ^ Venkatesan, A; Tunkel, AR; Bloch, KC; Lauring, AS; Sejvar, J; Bitnun, A; Stahl, JP; Mailles, A; Drebot, M; Rupprecht, CE; Yoder, J; Cope, JR; Wilson, MR; Whitley, RJ; Sullivan, J; Granerod, J; Jones, C; Eastwood, K; Ward, KN; Durrheim, DN; Solbrig, MV; Guo-Dong, L; Glaser, CA; International Encephalitis, Consortium. (October 2013). "Case definitions, diagnostic algorithms, and priorities in encephalitis: consensus statement of the international encephalitis consortium". Clinical Infectious Diseases. 57 (8): 1114–28. doi:10.1093/cid/cit458. PMC 3783060. PMID 23861361. 21. ^ "Encephalitis: Diagnosis". NHS Choices. Archived from the original on 2015-07-16. Retrieved 2015-08-05. 22. ^ Kneen R, Michael BD, Menson E, Mehta B, Easton A, Hemingway C, Klapper PE, Vincent A, Lim M, Carrol E, Solomon T (2012). "Management of suspected viral encephalitis in children - Association of British Neurologists and British Paediatric Allergy, Immunology and Infection Group national guidelines". J. Infect. 64 (5): 449–77. doi:10.1016/j.jinf.2011.11.013. PMID 22120594. 23. ^ "Tick-borne Encephalitis: Vaccine". International travel and health. World Health Organization. Archived from the original on 3 December 2013. Retrieved 2 April 2013. 24. ^ "Japanese encephalitis". Immunization, Vaccines and Biologicals. World Health Organization. Archived from the original on 3 December 2013. Retrieved 2 April 2013. 25. ^ "CDC Media Statement on Newly Discovered Smallpox Specimens". www.cdc.gov. January 2016. Archived from the original on 2016-05-20. Retrieved 2016-05-19. 26. ^ "Contraindications and Precautions to Commonly Used Vaccines in Adults". Vaccines. Center for Disease Control. Archived from the original on 2015-08-23. Retrieved 2015-08-05. 27. ^ MedlinePlus Encyclopedia: Encephalitis 28. ^ a b c Connolly MP, Goodwin E, Schey C, Zummo J (2017). "Toxoplasmic encephalitis relapse rates with pyrimethamine-based therapy: systematic review and meta-analysis". Pathogens and Global Health. 111 (1): 31–44. doi:10.1080/20477724.2016.1273597. PMC 5375610. PMID 28090819. 29. ^ a b c Iro, Mildred A.; Martin, Natalie G.; Absoud, Michael; Pollard, Andrew J. (2017-10-02). "Intravenous immunoglobulin for the treatment of childhood encephalitis". The Cochrane Database of Systematic Reviews. 10: CD011367. doi:10.1002/14651858.CD011367.pub2. ISSN 1469-493X. PMC 6485509. PMID 28967695. 30. ^ a b c Venkatesan, A (June 2015). "Epidemiology and outcomes of acute encephalitis". Current Opinion in Neurology. 28 (3): 277–82. doi:10.1097/WCO.0000000000000199. PMID 25887770. 31. ^ Jmor F, Emsley HC, et al. (October 2008). "The incidence of acute encephalitis syndrome in Western industrialised and tropical countries". Virology Journal. 5 (134): 134. doi:10.1186/1743-422X-5-134. PMC 2583971. PMID 18973679. 32. ^ Rozenberg, F; Deback C; Agut H (June 2011). "Herpes simplex encephalitis: from virus to therapy". Infectious Disorders Drug Targets. 11 (3): 235–250. doi:10.2174/187152611795768088. PMID 21488834. 33. ^ "Woodhouse's English-Greek Dictionary" (in German). The University of Chicago Library. Retrieved 2013-01-10. 34. ^ The word seems to have had a meaning of “lithic imitation of the human brain” at first, according to the Trésor de la langue française informatisé (cf. the article on “encéphalite” Archived 2017-11-05 at the Wayback Machine). The first use in the medical sense is attested from the early 19th century in French (J. Capuron, Nouveau dictionnaire de médecine, chirurgie…, 1806), and from 1843 in English respectively (cf. the article “encephalitis” in the Online Etymology Dictionary). Retrieved 11 March 2017. ## Further reading[edit] * Steiner, I.; Budka, H.; Chaudhuri, A.; Koskiniemi, M.; Sainio, K.; Salonen, O.; Kennedy, P. G. E. (1 May 2005). "Viral encephalitis: a review of diagnostic methods and guidelines for management". European Journal of Neurology. 12 (5): 331–343. doi:10.1111/j.1468-1331.2005.01126.x. PMID 15804262. S2CID 8986902. * Basavaraju, Sridhar V.; Kuehnert, Matthew J.; Zaki, Sherif R.; Sejvar, James J. (September 2014). "Encephalitis Caused by Pathogens Transmitted through Organ Transplants, United States, 2002–2013". Emerging Infectious Diseases. 20 (9): 1443–51. doi:10.3201/eid2009.131332. PMC 4178385. PMID 25148201. * National Center for Biotechnology Information. "Encephalitis". PubMed Health. National Library of Medicine. Retrieved 2015-08-05. ## External links[edit] * WHO: Viral Encephalitis Classification D * ICD-10: A83-A86, B94.1, G05 * ICD-9-CM: 323 * MeSH: D004660 * DiseasesDB: 22543 External resources * MedlinePlus: 001415 * eMedicine: emerg/163 Scholia has a topic profile for Encephalitis. * v * t * e Diseases of the nervous system, primarily CNS Inflammation Brain * Encephalitis * Viral encephalitis * Herpesviral encephalitis * Limbic encephalitis * Encephalitis lethargica * Cavernous sinus thrombosis * Brain abscess * Amoebic Brain and spinal cord * Encephalomyelitis * Acute disseminated * Meningitis * Meningoencephalitis Brain/ encephalopathy Degenerative Extrapyramidal and movement disorders * Basal ganglia disease * Parkinsonism * PD * Postencephalitic * NMS * PKAN * Tauopathy * PSP * Striatonigral degeneration * Hemiballismus * HD * OA * Dyskinesia * Dystonia * Status dystonicus * Spasmodic torticollis * Meige's * Blepharospasm * Athetosis * Chorea * Choreoathetosis * Myoclonus * Myoclonic epilepsy * Akathisia * Tremor * Essential tremor * Intention tremor * Restless legs * Stiff-person Dementia * Tauopathy * Alzheimer's * Early-onset * Primary progressive aphasia * Frontotemporal dementia/Frontotemporal lobar degeneration * Pick's * Dementia with Lewy bodies * Posterior cortical atrophy * Vascular dementia Mitochondrial disease * Leigh syndrome Demyelinating * Autoimmune * Inflammatory * Multiple sclerosis * For more detailed coverage, see Template:Demyelinating diseases of CNS Episodic/ paroxysmal Seizures and epilepsy * Focal * Generalised * Status epilepticus * For more detailed coverage, see Template:Epilepsy Headache * Migraine * Cluster * Tension * For more detailed coverage, see Template:Headache Cerebrovascular * TIA * Stroke * For more detailed coverage, see Template:Cerebrovascular diseases Other * Sleep disorders * For more detailed coverage, see Template:Sleep CSF * Intracranial hypertension * Hydrocephalus * Normal pressure hydrocephalus * Choroid plexus papilloma * Idiopathic intracranial hypertension * Cerebral edema * Intracranial hypotension Other * Brain herniation * Reye syndrome * Hepatic encephalopathy * Toxic encephalopathy * Hashimoto's encephalopathy Both/either Degenerative SA * Friedreich's ataxia * Ataxia–telangiectasia MND * UMN only: * Primary lateral sclerosis * Pseudobulbar palsy * Hereditary spastic paraplegia * LMN only: * Distal hereditary motor neuronopathies * Spinal muscular atrophies * SMA * SMAX1 * SMAX2 * DSMA1 * Congenital DSMA * Spinal muscular atrophy with lower extremity predominance (SMALED) * SMALED1 * SMALED2A * SMALED2B * SMA-PCH * SMA-PME * Progressive muscular atrophy * Progressive bulbar palsy * Fazio–Londe * Infantile progressive bulbar palsy * both: * Amyotrophic lateral sclerosis Authority control * GND: 4152132-8 * NDL: 00568595 [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-aminobutyric 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	Encephalitis	c0014038	26,415	wikipedia	https://en.wikipedia.org/wiki/Encephalitis	2021-01-18T18:45:48	{"mesh": ["D004660"], "umls": ["C0014038"], "icd-9": ["323"], "icd-10": ["A86", "G05", "B94.1", "A83"], "orphanet": ["97275"], "wikidata": ["Q199615"]}
Micrograph showing a lymphoepithelial lesion (lower right of image) in a primary gastrointestinal tract lymphoma. H&E stain. In pathology, lymphoepithelial lesion refers to a discrete abnormality that consists of lymphoid cells and epithelium, which may or may not be benign. It may refer to a benign lymphoepithelial lesion of the parotid gland or benign lymphoepithelial lesion of the lacrimal gland, or may refer to the infiltration of malignant lymphoid cells into epithelium, in the context of primary gastrointestinal lymphoma.[1] In the context of GI tract lymphoma, it is most often associated with MALT lymphomas.[1] ## See also[edit] * Gastric lymphoma * MALT lymphoma ## References[edit] 1. ^ a b Papadaki, L.; Wotherspoon, AC.; Isaacson, PG. (Nov 1992). "The lymphoepithelial lesion of gastric low-grade B-cell lymphoma of mucosa-associated lymphoid tissue (MALT): an ultrastructural study". Histopathology. 21 (5): 415–21. doi:10.1111/j.1365-2559.1992.tb00425.x. PMID 1452124. [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-aminobutyric 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	Lymphoepithelial lesion	c1518069	26,416	wikipedia	https://en.wikipedia.org/wiki/Lymphoepithelial_lesion	2021-01-18T19:07:01	{"umls": ["C1518069"], "wikidata": ["Q6708260"]}
Not to be confused with hyperphosphatemia (high levels in the blood). Hypophosphatemia Other namesLow blood phosphate, phosphate deficiency, hypophosphataemia Phosphate group chemical structure SpecialtyEndocrinology SymptomsWeakness, trouble breathing, loss of appetite[1] ComplicationsSeizures, coma, rhabdomyolysis, softening of the bones[1] CausesAlcoholism, refeeding in those with malnutrition, hyperventilation, diabetic ketoacidosis, burns, certain medications[1] Diagnostic methodBlood phosphate < 0.81 mmol/L (2.5 mg/dL)[1] TreatmentBased on the underlying cause, phosphate[1][2] Frequency2% (people in hospital)[1] Hypophosphatemia is an electrolyte disorder in which there is a low level of phosphate in the blood.[1] Symptoms may include weakness, trouble breathing, and loss of appetite.[1] Complications may include seizures, coma, rhabdomyolysis, or softening of the bones.[1] Causes include alcoholism, refeeding in those with malnutrition, diabetic ketoacidosis, burns, hyperventilation, and certain medications.[1] It may also occur in the setting of hyperparathyroidism, hypothyroidism, and Cushing syndrome.[1] It is diagnosed based on a blood phosphate concentration of less than 0.81 mmol/L (2.5 mg/dL).[1] When levels are below 0.32 mmol/L (1.0 mg/dL) it is deemed to be severe.[2] Treatment depends on the underlying cause.[1] Phosphate may be given by mouth or by injection into a vein.[1] Hypophosphatemia occurs in about 2% of people within hospital and 70% of people in the intensive care unit (ICU).[1][3] ## Contents * 1 Signs and symptoms * 2 Causes * 3 Pathophysiology * 4 Diagnosis * 5 Treatment * 6 See also * 7 References * 8 External links ## Signs and symptoms[edit] * Muscle dysfunction and weakness – This occurs in major muscles, but also may manifest as: diplopia, low cardiac output, dysphagia, and respiratory depression due to respiratory muscle weakness. * Mental status changes – This may range from irritability to gross confusion, delirium, and coma. * White blood cell dysfunction, causing worsening of infections. * Instability of cell membranes due to low adenosine triphosphate (ATP) levels – This may cause rhabdomyolysis with increased serum levels of creatine phosphokinase, and also hemolytic anemia. * Increased affinity for oxygen in the blood caused by decreased production of 2,3-bisphosphoglyceric acid. ## Causes[edit] * Refeeding syndrome – This causes a demand for phosphate in cells due to the action of hexokinase, an enzyme that attaches phosphate to glucose to begin metabolism of glucose. Also, production of ATP when cells are fed and recharge their energy supplies requires phosphate. * Respiratory alkalosis – Any alkalemic condition moves phosphate out of the blood into cells. This includes most common respiratory alkalemia (a higher than normal blood pH from low carbon dioxide levels in the blood), which in turn is caused by any hyperventilation (such as may result from sepsis, fever, pain, anxiety, drug withdrawal, and many other causes). This phenomenon is seen because in respiratory alkalosis carbon dioxide (CO2) decreases in the extracellular space, causing intracellular CO2 to freely diffuse out of the cell. This drop in intracellular CO2 causes a rise in cellular pH which has a stimulating effect on glycolysis. Since the process of glycolysis requires phosphate (the end product is adenosine triphosphate), the result is a massive uptake of phosphate into metabolically active tissue (such as muscle) from the serum. However, that this effect is not seen in metabolic alkalosis, for in such cases the cause of the alkalosis is increased bicarbonate rather than decreased CO2. Bicarbonate, unlike CO2, has poor diffusion across the cellular membrane and therefore there is little change in intracellular pH.[4] * Alcohol abuse – Alcohol impairs phosphate absorption. Alcoholics are usually also malnourished with regard to minerals. In addition, alcohol treatment is associated with refeeding, which further depletes phosphate, and the stress of alcohol withdrawal may create respiratory alkalosis, which exacerbates hypophosphatemia (see above). * Malabsorption – This includes gastrointestinal damage, and also failure to absorb phosphate due to lack of vitamin D, or chronic use of phosphate binders such as sucralfate, aluminum-containing antacids, and (more rarely) calcium-containing antacids. * Intravenous iron (usually for anemia) may cause hypophosphatemia. The loss of phosphate is predominantly the result of renal wasting. Primary hypophosphatemia is the most common cause of non-nutritional rickets. Laboratory findings include low-normal serum calcium, moderately low serum phosphate, elevated serum alkaline phosphatase, and low serum 1,25 dihydroxy-vitamin D levels, hyperphosphaturia, and no evidence of hyperparathyroidism.[5] Hypophosphatemia decreases 2,3-bisphosphoglycerate (2,3-BPG) causing a left shift in the oxyhemoglobin curve.[citation needed] Other rarer causes include: * Certain blood cancers such as lymphoma or leukemia * Hereditary causes * Liver failure * Tumor-induced osteomalacia[citation needed] ## Pathophysiology[edit] Hypophosphatemia is caused by the following three mechanisms: * Inadequate intake (often unmasked in refeeding after long-term low phosphate intake) * Increased excretion (e.g. in hyperparathyroidism, hypophosphatemic rickets) * Shift of phosphorus from the extracellular to the intracellular space.[clarification needed] This can be seen in treatment of diabetic ketoacidosis, refeeding, short-term increases in cellular demand (e.g. hungry bone syndrome) and acute respiratory alkalosis.[citation needed] ## Diagnosis[edit] Hypophosphatemia is diagnosed by measuring the concentration of phosphate in the blood. Concentrations of phosphate less than 0.81 mmol/L (2.5 mg/dL) are considered diagnostic of hypophosphatemia, though additional tests may be needed to identify the underlying cause of the disorder.[6] ## Treatment[edit] Standard intravenous preparations of potassium phosphate are available and are routinely used in malnourished people and alcoholics. Supplementation by mouth is also useful where no intravenous treatment are available. Historically one of the first demonstrations of this was in people in concentration camp who died soon after being re-fed: it was observed that those given milk (high in phosphate) had a higher survival rate than those who did not get milk.[citation needed] Monitoring parameters during correction with IV phosphate[7] * Phosphorus levels should be monitored after 2 to 4 hours after each dose, also monitor serum potassium, calcium and magnesium. Cardiac monitoring is also advised.[citation needed] ## See also[edit] * X-linked hypophosphatemia ## References[edit] 1. ^ a b c d e f g h i j k l m n o "Hypophosphatemia". Merck Manuals Professional Edition. Retrieved 28 October 2018. 2. ^ a b Adams, James G. (2012). Emergency Medicine: Clinical Essentials (Expert Consult - Online and Print). Elsevier Health Sciences. p. 1416. ISBN 978-1455733941. 3. ^ Yunen, Jose R. (2012). The 5-Minute ICU Consult. Lippincott Williams & Wilkins. p. 152. ISBN 9781451180534. 4. ^ O'Brien, Thomas M; Coberly, LeAnn (2003). "Severe Hypophosphatemia in Respiratory Alkalosis" (PDF). Advanced Studies in Medicine. 3 (6): 347. Archived from the original (PDF) on 2012-08-15. Retrieved 2011-06-17. 5. ^ Toy, Girardet, Hormann, Lahoti, McNeese, Sanders, and Yetman. Case Files: Pediatrics, Second Edition. 2007\. McGraw Hill. 6. ^ "Hypophosphatemia - Endocrine and Metabolic Disorders - Merck Manuals Professional Edition". Merck Manuals Professional Edition. Merck Sharp & Dohme Corp. Retrieved 23 October 2017. 7. ^ Shajahan, A., Ajith Kumar, J., Gireesh Kumar, K. P., Sreekrishnan, T. P. and Jismy, K. (2015), Managing hypophosphatemia in critically ill patients: a report on an under-diagnosed electrolyte anomaly. Journal of Clinical Pharmacy and Therapeutics. doi: 10.1111/jcpt.12264 ## External links[edit] Classification D * ICD-10: E83.3 * ICD-9-CM: 275.3 * MeSH: D017674 * DiseasesDB: 6503 External resources * MedlinePlus: 000307 * eMedicine: med/1135 * Patient UK: Hypophosphatemia * v * t * e Metal deficiency and toxicity disorders Iron excess: * Iron overload * Hemochromatosis * Hemochromatosis/HFE1 * Juvenile/HFE2 * HFE3 * African iron overload/HFE4 * Aceruloplasminemia * Atransferrinemia * Hemosiderosis deficiency: * Iron deficiency Copper excess: * Copper toxicity * Wilson's disease deficiency: * Copper deficiency * Menkes disease/Occipital horn syndrome Zinc excess: * Zinc toxicity deficiency: * Acrodermatitis enteropathica Other * Inborn errors of metabolism [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-aminobutyric 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	Hypophosphatemia	c0085682	26,417	wikipedia	https://en.wikipedia.org/wiki/Hypophosphatemia	2021-01-18T18:45:19	{"mesh": ["D017674"], "umls": ["C0085682"], "icd-9": ["275.3"], "icd-10": ["E83.3"], "wikidata": ["Q1641384"]}
Some of this article's listed sources may not be reliable. Please help this article by looking for better, more reliable sources. Unreliable citations may be challenged or deleted. (September 2018) (Learn how and when to remove this template message) Ancraophobia Other namesAnemophobia SpecialtyPsychology Ancraophobia, also known as anemophobia, is an extreme fear of wind or drafts. It is rather uncommon, and can be treated. It has many different effects on the human brain.[1] It can cause panic attacks for those who have the fear, and can make people miss out on regular everyday activities such as going outside. ## Contents * 1 Origin * 2 Signs and symptoms * 2.1 Psychological * 2.2 Physical * 2.3 Mental * 2.4 Emotional * 2.5 Famous Ancraophobiacs * 3 Causes * 4 Treatment * 5 See also * 6 References ## Origin[edit] Anyone can be born with this disorder or get it later in life. This phobia is most commonly the result of psychological trauma caused by a negative experience with wind in the afflicted person's past. The experience may be remembered, or it may be "imprinted" on the subconscious mind of the traumatized person. People who suffer from this phobia tend to be frightened by changes in the weather, such as storms. They are likely to believe that the wind has the potential to kill and destroy. Additionally, they avoid things that remind them of wind, like ocean waves. Ancraophobia is also related to terms like aeroacrophobia, which is the fear of open high places,[2][3] and anemophobia which is the fear of air drafts.[4] ## Signs and symptoms[edit] The level of fear as well as other symptoms will vary between individuals. There are four general types of symptoms: psychological, physical, mental and emotional.[5] ### Psychological[edit] Psychological symptoms include extreme anxiety when exposed to wind, feelings that the wind may harm or hurt the individual, and a compulsion to avoid encountering wind. The fear of wind is caused by the mind over-estimating the danger caused by wind, believing that wind presents an actual threat, when in reality, it may not. ### Physical[edit] Physical symptoms include dry mouth, tremors, tightening in the chest, rapid breathing, sweating of the palms, nausea, irregular heart beat and constant need to pass wind. ### Mental[edit] * Obsessive thoughts * Difficulty thinking about anything other than the fear * Feelings of unreality or of being detached from oneself * Fear of losing control * Fear of fainting ### Emotional[edit] * Anticipatory anxiety: persistent worrying about upcoming events that involve air movement. * Terror: a persistent and overwhelming fear of the same * Desire to flee: an intense need to leave the situation ### Famous Ancraophobiacs[edit] * Iain Warren ## Causes[edit] Ancraophobia is never present at birth. The fear of wind most often arises as a result of a negative experience in the person's past. This experience may or may not be recalled in the conscious mind of the person but this has been imprinted on the subconscious mind. Most often an ancraophobic person experienced a situation where the wind was blowing heavily and they found themselves afraid that the wind might destroy or kill them. This experience becomes linked with the wind, and is known as a "generalized conditioned response". This phobia arises from the combination of external events and an internal predisposition. The external events are things like traumatic events, and the internal predispositions are heredity, or having been transferred from one's blood line. The phobia can often be traced back to negative events that have happened; the most common event is the experience of a traumatic experience at an early age.[6] ## Treatment[edit] Scientists have developed medications that can be taken to reduce patients' fears. This medication is known as anti-anxiety medication. However, medications may have side-effects or withdrawal symptoms that can be severe.[7] The most popular form of treatment is visiting a cognitive behavioral therapist, psychologist, psychiatrist, hypnotherapist, or hypnotist. These therapies are also used to help patients forget what they are afraid of. Some basic therapy sessions involve making the patient stand in front of a fan, or making the patient face their fears in a safe environment. With the use of hypnotherapy, the subconscious mind of a person can be reached, potentially eliminating those fears.[8] ## See also[edit] * List of phobias * Lilapsophobia – fear of tornadoes or hurricanes ## References[edit] 1. ^ What is Phobia of Wind. Living Healthy. Retrieved February 11, 2014. 2. ^ "Aeroacrophobia - Fear of Open High Places". Retrieved 2014-04-01. 3. ^ "Aeroacrophobia Do you have a fear of open high places?". Retrieved 2014-04-01. 4. ^ "Anemophobia". Retrieved 2014-04-01. 5. ^ What is Phobia of Wind. Living Healthy. Retrieved February 11, 2014. 6. ^ http://www.mnn.com/health/fitness-well-being/photos/10-traumatic-phobias-inspired-by-nature/ancraophobia 7. ^ http://common-phobias.com/ancrao/phobia.htm 8. ^ http://www.peterfieldhypnotherapy.co.uk/anemophobia-ancraophobia-fear-of-wind-fear-of-drafts.html [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-aminobutyric 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	Ancraophobia	None	26,418	wikipedia	https://en.wikipedia.org/wiki/Ancraophobia	2021-01-18T18:40:29	{"wikidata": ["Q9613498"]}
A number sign (#) is used with this entry because Gaucher disease type III is caused by homozygous or compound heterozygous mutation in the gene encoding acid beta-glucosidase (GBA; 606463) on chromosome 1q22. Mutations in the same gene cause Gaucher disease types I (230800) and II (230900). Description Gaucher disease type III is the subacute form of neuronopathic Gaucher disease. It has later onset and slower progression compared to the acute form of neuronopathic Gaucher disease, type II. Patterson et al. (1993) suggested that there are 2 phenotypic subgroups of Gaucher disease type III: type IIIA, which is characterized by myoclonus and dementia, and type IIIB, characterized by early onset of isolated horizontal supranuclear gaze palsy and aggressive systemic disease. See also Gaucher disease type IIIC (231005), which is associated with cardiovascular calcifications. Clinical Features Herrlin and Hillborg (1962) reported a pedigree with juvenile Gaucher disease and neurologic signs. Miller et al. (1973) described Gaucher disease with neurologic manifestations in 3 adult sibs. Features included seizures and decreased beta-glucocerebrosidase activity. Dreborg et al. (1980) reported clinical studies of a large number of patients with a distinctive type of Gaucher disease that they termed the 'Norrbottnian type' because of its origin from the province of Norrbotten, the northern-most county in Sweden. Median age at onset was 2.5 years (range 8 months to 14.5 years). Initially, affected patients had normal intelligence and short stature with splenomegaly. Patients later developed abnormal eye movements and some developed seizures. The severity of the clinical symptoms and signs and course of the disease differed markedly not only between families but also between sibs. Splenectomy accelerated deterioration, especially with regard to skeletal and central nervous system manifestations. Biochemical studies were performed by Hakansson (1979). Tibblin et al. (1982) reported anemia, leukopenia, and thrombocytopenia in patients with the Norrbottnian type of Gaucher disease. Splenectomy resulted in improvement of these hematologic parameters. Erikson and Wahlberg (1985) found that patients with the Norrbottnian type of Gaucher disease showed horizontal gaze abnormalities during the first 10 years of life, similar to congenital oculomotor apraxia. Other ocular features included squint, white retinal infiltrations, and myopia. Gross-Tsur et al. (1989) reported 2 sisters, aged 6.5 and 5.5 years, respectively, in whom the presenting sign of Gaucher disease was oculomotor apraxia. The authors noted that the oculomotor deficit in Gaucher disease is usually characterized by failure of volitional horizontal gaze with preservation of vertical ocular movements. Raja et al. (2007) reported 2 brothers with Gaucher disease diagnosed as adults who both developed severe parkinsonism, cognitive impairment, and mood disorders. They were of southern Italian descent, and consanguinity was suspected. One brother presented with symptoms of bipolar disorder at age 49 and developed parkinsonism a few months later. Further studies showed brain hyperintensities on MRI and EEG abnormalities. The second brother presented with depressive symptoms at age 49 that worsened over the following years. He then developed parkinsonism with dystonic features. Both patients also had biliary lithiasis. The first brother had a history of meningitis, and at least 2 presumably unaffected family members had depression. Genetic analysis identified a homozygous mutation (606463.0001) in the GBA gene in both brothers. Raja et al. (2007) suggested that some Gaucher patients may develop motor or cognitive neurologic symptoms later in life. Benko et al. (2008) reported an unusual case in which a 3-year-old boy had both Gaucher disease type III, resulting from a homozygous mutation in the GBA gene (L444P; 606463.0001) on chromosome 1q22, and Charcot-Marie-Tooth disease type 1B (CMT1B; 118200), resulting from a homozygous mutation in the MPZ gene (159440) on chromosome 1q23.3. Further analysis showed that the father also carried the MPZ mutation and had CMT1B, and that the boy had complete paternal isodisomy of chromosome 1 with no evidence of the maternal chromosome 1. Benko et al. (2008) noted the atypical form of inheritance as well as the unique molecular mechanism of 2 concurrent mendelian disorders in this patient. ### Clinical Variability Although patients with Gaucher disease type II typically have acute neurologic progression and those with type III have slow progression, Goker-Alpan et al. (2003) described 9 children with an intermediate phenotype of delayed age of onset, rapid progression of neurologic disease with refractory seizures, and oculomotor abnormalities. Based on the clinical presentation and the detected genotypic heterogeneity found by identification of all 18 alleles, Goker-Alpan et al. (2003) concluded that neuronopathic Gaucher disease is more likely to be a continuum of phenotypes from the severe perinatal cases to mild involvement with oculomotor problems. Filocamo et al. (2005) reported a 25-month-old girl with an atypical form of neuronopathic Gaucher disease. Neurologic features included spasticity with persistent retroflexion of the neck, convergent strabismus, oculomotor apraxia, and abnormal MRI changes. Genetic analysis identified homozygosity for a complex allele containing 2 GBA mutations in cis (H255Q and D409H; see 606463.0047). Mapping In 10 Swedish families with the Norrbottnian form of Gaucher disease, Dahl et al. (1988) found linkage to an MspI polymorphism in the GBA gene. The results suggested that the mutation occurred only once in the Swedish population. Clinical Management Svennerholm et al. (1991) described the beneficial effects of bone marrow transplantation in Gaucher disease type III. Erikson et al. (1995) reported that infusion therapy with a macrophage-targeted glucosylceramidase decreased hepatosplenomegaly, normalized hematologic parameters, and prevented progression of neurologic deterioration in all 8 of their patients treated from 13 to 29 months. Rice et al. (1996) reported a 5-year-old patient with type III Gaucher disease who was treated with enzyme replacement therapy at a dose of 60 U/kg every 2 weeks since age 2.5 years and showed no progression of neurologic involvement. Two other type III patients who were treated at the same dose beginning at ages 14 years and 41 years, respectively, showed no measurable neurologic change. Vellodi et al. (2001) reported a European consensus on the management of neuronopathic Gaucher disease. They recommended enzyme replacement therapy with macrophage-targeted recombinant human glucocerebrosidase and found that it ameliorates systemic involvement in nonneuronopathic as well as neuronopathic Gaucher disease, enhancing the quality of life. There was also evidence that enzyme replacement therapy reversed, stabilized, or slowed the progression of neurologic involvement in some patients. In patients with established acute neuronopathic disease, enzyme replacement therapy had little effect on the progressively downhill course. Schiffmann et al. (2008) reported the results of a randomized control study of miglustat, a substrate reduction therapy that inhibits glucosylceramide synthase (UGCG; 602874), in 30 adult patients with Gaucher disease type III. Twenty-nine patients received enzyme replacement therapy during the 24-month study period. There were no significant differences in vertical saccadic eye movement velocity or in other neurologic or neuropsychologic evaluations between the patients who received miglustat and those who did not. Organ volumes and hematologic parameters remained stable in both treatment groups. However, patients receiving miglustat showed some improvement in pulmonary function and decrease of chitotriosidase (600031) levels compared to patients receiving enzyme replacement therapy alone. Schiffmann et al. (2008) concluded that this therapy did not appear to have significant benefits on the neurologic manifestations of GD type III, but may have positive effects on systemic disease. Molecular Genetics Dahl et al. (1990) showed that the Norrbottnian form of Gaucher disease is caused by homozygosity for the leu444-to-pro (L444P; 606463.0001) mutation in the GBA gene. Koprivica et al. (2000) found that homozygosity for L444P was associated with type III Gaucher disease. Park et al. (2003) studied 16 patients with Gaucher disease type III who were part of a rare patient subgroup manifesting progressive myoclonic epilepsy (IIIA). Fourteen different genotypes were found, yet there were several shared alleles, including V394L (606463.0005), G377S (606463.0040), and N188S (606463.0026). The genotypes differed from those found in most patients with type III, and some of the shared alleles in these patients had previously been associated with nonneuronopathic Gaucher disease. Western studies showed that the patients lacked the processed 56-kD enzyme isoform usually indicative of neuronopathic disease. Although the genotype spectrum was distinct from the rest of Gaucher type III disease, Park et al. (2003) concluded that lack of a specific shared genotype and the variability of clinical presentations indicated a contribution by other genetic and environmental modifiers. Population Genetics The Swedish families with the Norrbottnian type of Gaucher disease are found in 2 geographically distinct clusters. Dahl et al. (1990, 1993) demonstrated that both clusters are caused by the same GBA mutation (L444P). Mutation analysis was combined with a genealogic reconstruction of 19 contemporary index families. Each cluster was traced back to a single ancestral couple who were not known to be related to each other; however, the molecular studies were considered compatible with a single founder who arrived in northern Sweden in or before the 16th century. There was a single connection between the 2 pedigrees as published: the mother of an affected individual in one cluster came from the other isolate. Animal Model Sun et al. (2010) backcrossed saposin C (PSAP; 176801)-deficient mice (C -/-) to point-mutated GCase (V394L/V394L) (606463.0005) mice. The resultant mice (4L;C) began to exhibit CNS abnormalities at 30 days, and death occurred at 48 days due to neurological deficits. Axonal degeneration was evident in brain stem, spinal cord, and white matter of cerebellum accompanied by increasing infiltration of the brain stem, cortex, and thalamus by microglial cells and activation of astrocytes. Electron microscopy showed inclusion bodies in neuronal processes and degenerating cells. Accumulation of p62 (SQSTM1; 601530) and Lamp2 (309060) were prominent in the brain, suggesting the impairment of autophagosome/lysosome function. This phenotype was different from either V394L/V394L or C -/- alone. Relative to V394L/V394L mice, 4L;C mice had diminished GCase protein and activity. Marked increases of glucosylsphingosine (GS) and moderate elevation of glucosylceramide (GC) were found in 4L;C* brains. Visceral tissues had increases of GS and GC, but no storage cells were found. Neuronal cells in thick hippocampal slices from 4L;C* mice had significantly attenuated long-term potentiation, presumably resulting from substrate accumulation. The 4L;C* mouse mimicked the CNS phenotype and biochemistry of some type 3 (subacute neuronopathic) variants of Gaucher disease. INHERITANCE \- Autosomal recessive GROWTH Height \- Short stature Weight \- Decreased weight HEAD & NECK Eyes \- Abnormal eye movements \- Abnormal saccades \- Supranuclear gaze palsy, horizontal (type IIIB) \- Vertical ocular movements are usually preserved \- Squint ABDOMEN Liver \- Hepatomegaly Spleen \- Splenomegaly NEUROLOGIC Central Nervous System \- Subacute neurologic deterioration \- Seizures \- Delayed motor development \- Intellectual deterioration \- Speech abnormalities \- Ataxia \- Spastic paraparesis \- Myoclonus (subtype 3A) \- Myoclonic seizures (subtype 3A) \- Dementia (subtype 3A) Behavioral Psychiatric Manifestations \- Depression HEMATOLOGY \- Gaucher cells in bone marrow \- Pancytopenia \- Thrombocytopenia LABORATORY ABNORMALITIES \- Decreased beta-glucocerebrosidase protein and activity MISCELLANEOUS \- Highly variable phenotype \- Onset usually in childhood (range infancy to late childhood) \- Adult onset has been reported \- Subtype 3A comprises myoclonus and dementia \- Subtype 3B comprises horizontal supranuclear gaze palsy and aggressive systemic disease \- Subtype 3C ( 231005 ) comprises cardiovascular calcifications MOLECULAR BASIS \- Caused by mutation in the acid beta-glucocerebrosidase gene (GBA, 606643.0001 ) ▲ 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-aminobutyric 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	GAUCHER DISEASE, TYPE III	c0268251	26,419	omim	https://www.omim.org/entry/231000	2019-09-22T16:27:37	{"doid": ["0110959"], "mesh": ["D005776"], "omim": ["231000"], "orphanet": ["77261", "355"], "synonyms": ["Alternative titles", "GD III", "GAUCHER DISEASE, SUBACUTE NEURONOPATHIC TYPE", "GAUCHER DISEASE, CHRONIC NEURONOPATHIC TYPE", "GAUCHER DISEASE, JUVENILE AND ADULT, CEREBRAL"], "genereviews": ["NBK1269"]}
A rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfuntion are usually 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-aminobutyric 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	Autosomal dominant congenital benign spinal muscular atrophy	c1838492	26,420	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1216	2021-01-23T17:09:37	{"mesh": ["C563981"], "omim": ["600175"], "icd-10": ["G12.1"], "synonyms": ["Autosomal dominant benign distal spinal muscular atrophy", "Congenital benign spinal muscular atrophy with contractures", "Congenital nonprogressive spinal muscular atrophy"]}
## Summary ### Clinical characteristics. Three M syndrome is characterized by severe pre- and postnatal growth deficiency (final height 5-6 SD below the mean; i.e., 120-130 cm), characteristic facies, and normal intelligence. Additional features of three M syndrome include short broad neck, prominent trapezii, deformed sternum, short thorax, square shoulders, winged scapulae, hyperlordosis, short fifth fingers, prominent heels, and loose joints. Males with three M syndrome have hypogonadism and occasionally hypospadias. ### Diagnosis/testing. The diagnosis of three M syndrome is established in a proband with characteristic clinical and radiographic features. Identification of biallelic pathogenic variants in CCDC8, CUL7, or OBSL1 can establish the diagnosis if clinical and radiographic features are inconclusive. ### Management. Treatment of manifestations: Surgical bone lengthening may be an option. Adaptive aids for people with short stature are appropriate. Significant joint laxity should prompt orthopedic evaluation and measures to control the development of arthritis. Males with three M syndrome should be referred for endocrinologic evaluation regarding gonadal function at puberty. Surveillance: Monitoring of growth every 6-12 months on standard growth charts, with special attention to growth velocity. ### Genetic counseling. Three M syndrome is inherited in an autosomal recessive manner. Each sib of a proband with three M syndrome 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 for families in which the pathogenic variants have been identified in an affected family member. Prenatal ultrasound examination reveals slowing of growth of all long bones. ## Diagnosis ### Suggestive Findings Three M syndrome should be suspected in a proband with a combination of the following clinical and radiographic features. Clinical features * Short stature of prenatal onset [Lugli et al 2016]. Typical height is -5.0 SDS (standard deviation score) [Shapiro et al 2017]. * Facial features. Relatively large head, dolichocephaly, triangular face, midface retrusion, thick eyebrows, fleshy nasal tip, long philtrum, full lips, and pointed chin. Facial appearance varies among affected individuals [van der Wal et al 2001, Marik et al 2002]. * Musculoskeletal features. Short broad neck, prominent trapezii, deformed sternum, short thorax, square shoulders, winged scapulae, thoracic kyphoscoliosis, hyperlordosis, spina bifida occulta, clinodactyly of the fifth fingers, generalized or isolated joint hypermobility, prominent heels, and pes planus * Genitourinary anomalies in males. Hypogonadism and hypospadias * Intelligence. Usually unaffected Radiographic features are subtle and may include the following (most often present after age 2 years): * Long bones are slender with diaphyseal constriction and flared metaphyses. The femoral necks can be short. * Vertebral bodies are tall with reduced anterior-posterior and transverse diameter (especially in the lumbar region), anterior wedging of the thoracic vertebral bodies, and irregular upper and lower endplates; thoracic kyphoscoliosis; spina bifida occulta. * Thorax is relatively broad with slender, horizontal ribs. * Pelvic bones are small, especially the pubis and the ischium. The iliac wings are flared and the obturator foramina are small, although the latter may be positional. * Bone age is slightly delayed. There is a high metacarpal index. * Other findings include dolichocephaly, flattened coronal suture, narrowed intraorbital distance, elbow dysplasia, shortened ulna, pseudoepiphyses of the second metacarpal bone, dislocated hips, and prominent talus. ### Establishing the Diagnosis The diagnosis of three M syndrome is established in a proband with prenatal-onset persistent growth deficiency and the characteristic clinical and radiographic features described in Suggestive Findings. Identification of biallelic pathogenic variants in one of the genes listed in Table 1 can confirm the diagnosis. Molecular genetic testing approaches can include a combination of gene-targeted testing (concurrent or serial single-gene testing, multigene panel) and comprehensive genomic testing (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 three M 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 three M syndrome has not been considered are more likely to be diagnosed using genomic testing (see Option 2). #### Option 1 When the phenotypic and laboratory findings suggest the diagnosis of three M syndrome, molecular genetic testing approaches can include concurrent or serial single-gene testing) or use of a multigene panel. * Serial single-gene testing. Sequence analysis detects small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. Perform sequence analysis of CUL7 first, followed by sequence analysis of OBSL1, then CCDC8. If only one or no pathogenic variant is found, gene-targeted deletion/duplication analysis of CCDC8, CUL7, and/or OBSL1 can be performed next to detect intragenic deletions or duplications. * A multigene panel that includes CCDC8, CUL7, OBSL1 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 three M 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. Exome sequencing is most commonly used; genome sequencing is also possible. 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 Three M Syndrome View in own window Gene 1, 2Proportion of Three M Syndrome Attributed to Pathogenic Variants in GeneProportion of Pathogenic Variants 3 Detectable by Method Sequence analysis 4Gene-targeted deletion/duplication analysis 5 CCDC8<5% 6100% 6None reported 6 CUL777.5% 7100% 7None reported 7 OBSL116% 7, 8100% 7None reported 7, 8 Unknown 9>1.5% 1\. Genes are listed alphabetically. 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 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\. Hanson et al [2011] 7\. Huber et al [2009], Huber et al [2011] 8\. Hanson et al [2009] 9\. Pathogenic variants in CCDC8, CUL7, and OBSL1 do not account for 100% of 3-M syndrome, it is postulated that mutation of other genes (potentially members of the same pathway) may be involved [Huber et al 2011]. ## Clinical Characteristics ### Clinical Description Growth deficiency. The most striking feature of three M syndrome is the severe intrauterine growth restriction. Birth length is 40-42 cm, whereas the head size is normal for gestational age. Catch-up growth does not occur; final height is 5-6 standard deviations below the mean (i.e., 120-130 cm) [van der Wal et al 2001], resulting in proportionate short stature. Although most children with three M syndrome are evaluated for growth hormone (GH) deficiency, only one individual has been reported with an incomplete response to GH stimulation, suggesting partial deficiency of GH [Miller et al 1975]. Several individuals with short stature have been treated with exogenous GH without positive result [Miller et al 1975]. One report suggested that high-dosage GH treatment may be effective in three M syndrome [van der Wal et al 2001]. No obvious demonstration of growth hormone efficacy has been published to date [Huber et al 2011, Meazza et al 2013]. Facial features. Infants with three M syndrome have a relatively large head, triangular face, midface retrusion, thick eyebrows, fleshy nose tip, long philtrum, thick lips, and pointed chin. Facial appearance varies among affected individuals [van der Wal et al 2001, Marik et al 2002] and changes over time, with the pointed chin, long philtrum, and triangular face becoming more pronounced. Musculoskeletal features present by early childhood variably include short broad neck, prominent trapezii, deformed sternum, short thorax, square shoulders, winged scapulae, and hyperlordosis. Short fifth fingers, prominent heels, and loose joints are reported. Developmental dysplasia of the hips has been reported with delayed diagnosis [Badina et al 2011]. Radiographic features * The long bones are slender with diaphyseal constriction and flared metaphyses; these appear to be the main radiologic features of three M syndrome. Increased radiolucency is unusual [van der Wal et al 2001]. The metacarpal index, used to document slender long bones, is usually high. * The vertebral bodies are tall with reduced anterior-posterior and transverse diameter, especially in the lumbar region. Foreshortening of the vertebral bodies becomes more apparent with increasing age. Calculation of the vertebral index at different ages reveals that the vertebral index of L1 is a useful tool to document three M syndrome, although tall vertebrae are a nonspecific finding that may be secondary to scoliosis or hypotonia. Anterior wedging of thoracic vertebral bodies, irregular upper and lower endplates, thoracic kyphoscoliosis, and spina bifida occulta are also features of three M syndrome. * Thorax is broad with slender and horizontal ribs. * Pelvic bones are small, especially the pubis and the ischium. The iliac wings are flared and the obturator foramina are small, although the latter may be positional. * Bone age is slightly delayed. * Other findings include dolichocephaly, flattened coronal suture, narrowed intraorbital distance, elbow dysplasia, shortened ulna, pseudoepiphyses of the second metacarpal bone, clinodactyly of the fifth fingers, dislocated hips, and prominent talus. Genitourinary anomalies in males may include gonadal dysfunction and subfertility or infertility as documented by high FSH levels, low testicular volume, and abnormal semen analysis [van der Wal et al 2001]. Hypospadias has been seen in a few males with three M syndrome. Note: Female gonadal function appears normal. ### Genotype-Phenotype Correlations No genotype-phenotype correlations have been reported to date. ### Nomenclature The name "three M" derives from the initials of the authors who first described the condition. Three M syndrome may also be referred to as Le Merrer syndrome or Yakut short stature syndrome. Dolichospondylic dysplasia, described by Elliott et al [2002], is probably the same as three M syndrome. Findings include normal facial appearance except for epicanthal folds and ocular hypertelorism, borderline intellectual disability, and radiographic findings similar to three M syndrome. Gloomy face syndrome is likely the same condition as three M. In one report, the facial features and the mode of inheritance are identical; however, radiologic abnormalities were absent. No follow-up information is available; the characteristic radiologic findings could have appeared later [Le Merrer et al 1991]. ### Prevalence Three M syndrome is rare. The prevalence is not known; approximately 100 affected individuals have been reported in the literature since the first published report in 1975 [Miller et al 1975]. ## Differential Diagnosis Intrauterine growth retardation is a nonspecific finding that occurs in approximately 0.17% of all live-born children. Three M syndrome must be distinguished from other forms of intrauterine growth retardation-malformation syndromes, including the following (see Table 2). ### Table 2. Disorders to Consider in the Differential Diagnosis of Three M Syndrome View in own window DisorderGene(s)MOIClinical Features of This Disorder Overlapping w/3-M syndromeDistinguishing from 3-M syndrome Silver-Russell syndrome (SRS)See footnote 1SimplexIUGR, postnatal growth deficiency * SRS often shows limb length asymmetry. * Characteristic radiologic features of 3-M are absent. Dubowitz syndrome (OMIM 223370)UnknownARIUGR * Microcephaly * Eczema * Characteristic facial features (small face w/sloping forehead, broad nasal bridge, shallow supraorbital ridge, broad nasal tip, short palpebral fissures, telecanthus, ptosis, dysplastic ears) * Intellectual disability Mulibrey nanism (OMIM 253250)TRIM37ARIUGR * IUGR often less severe than in infants w/3-M * Characteristic facial features (high forehead, pseudo-hydrocephalic skull configuration) Fetal alcohol syndromeNANAIUGR * Microcephaly * ↓ subcutaneous fat * Hirsutism * Nail hypoplasia * Characteristic facial features * Intellectual disability AR = autosomal recessive; IUGR = intrauterine growth restriction; MOI = mode of inheritance 1\. Hypomethylation of the paternal imprinting center 1 (IC1) of chromosome 11p15.5 is identified in 35%-50% of individuals with SRS. About 10% of individuals with SRS have maternal uniparental disomy for chromosome 7 (UPD7). ## Management ### Evaluations Following Initial Diagnosis To establish the extent of disease in an individual diagnosed with three M syndrome, the following evaluations are recommended if they have not already been completed: * Physical examination to assess for hip dislocation, joint mobility, and kyphoscoliosis * Referral to a pediatric endocrinologist for: * Evaluation for growth hormone deficiency (uncommon) at the time of diagnosis * Assessment of gonadal function in pubertal males by physical examination and serum concentrations of FSH, LH, and testosterone * Consultation with a clinical geneticist and/or genetic counselor ### Treatment of Manifestations The predominant management issues are ultimate adult stature and growth: * Significant joint laxity should prompt orthopedic evaluation and measures to control the development of arthritis. * Surgical bone lengthening may be an option for some. * Adaptive aids for people with short stature are appropriate. * Males with three M syndrome should be referred for endocrinologic evaluation for assessment of gonadal function at puberty. * Treatment with growth hormone is indicated in the presence of documented growth hormone (GH) deficiency, but treatment of children with normal serum concentration of growth hormone is experimental. GH treatment should be carried out in a center with experience in managing growth disorders. Note: Several individuals with short stature have been treated with exogenous GH without positive result [Miller et al 1975]. One report suggested that high-dosage GH treatment may be effective in three M syndrome [van der Wal et al 2001]. No obvious demonstration of growth hormone efficiency has been published to date [Huber et al 2011]. ### Surveillance Monitor growth every six to 12 months on standard growth charts with special attention to growth velocity. Monitor for hip dislocation in infancy, especially if walking is delayed. Examine back annually for kyphoscoliosis. ### Evaluation of Relatives at Risk It is appropriate to evaluate apparently asymptomatic younger sibs of a proband and at-risk relatives in order to identify as early as possible those who would benefit from prompt initiation of treatment and preventive measures. Evaluations can include: * Molecular genetic testing if the pathogenic variants in the family are known; * Physical examination and skeletal survey for the characteristic clinical and radiographic features if the pathogenic variants in the family are not known. See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes. ### Pregnancy Management Management of pregnancy for affected women is the same as that for women with other forms of dwarfism or small stature, which is mainly to reduce the risk of premature birth. ### 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-aminobutyric 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	Three M Syndrome	c1848862	26,421	gene_reviews	https://www.ncbi.nlm.nih.gov/books/NBK1481/	2021-01-18T20:52:23	{"mesh": ["C535314"], "synonyms": ["3-M Syndrome", "3M Syndrome"]}
Parkman et al. (1984) reported studies of 2 patients with primary T-lymphocyte immune abnormalities due to deficiency of a lymphocyte membrane glycoprotein with molecular weight 115,000 Daltons (Remold-O'Donnell et al., 1984). One patient was from a kindred with 7 affected males in 4 sibships connected through females. The affected persons were all dead by the time of the report, having suffered from severe viral, protozoan, and bacterial infections. The second patient, a male, was an isolated case. The patients showed some clinical and biochemical similarities with the Wiskott-Aldrich syndrome (301000) but important differences as well. In gpL-115 deficiency, no eczema or thrombocytopenia was observed and no abnormality of platelet surface glycoproteins or their in vitro aggregation. The autoradiographs of the lymphocytes in Wiskott-Aldrich syndrome were similar to those in this disorder, but in WAS glycoprotein-115 is abnormal in both platelets and lymphocytes (Remold-O'Donnell et al., 1984). These 2 patients and some WAS patients have reduced lymphocyte volume, seemingly related to gpL-115 deficiency. Splenectomy in WAS resulted in return of lymphocyte size to normal. Platelet size behaves similarly. Patient 1 of Parkman et al. (1984) showed circulating immature T-cells of a type usually found only in the thymus in adulthood. They suggested that immature T-cells may be a compensatory mechanism for increased in vivo destruction of the abnormal T-cells in a manner analogous to reticulocytes and nucleated red cells in the circulation in hereditary spherocytosis and other intrinsic red cell membrane abnormalities associated with increased in vivo destruction. Bone marrow transplantation was performed in the second case. This may be an addition to the list of X-linked immunodeficiencies (see 300400, 301000, 307200, 308230, and 308240). Misc \- Severe viral, protozoan, and bacterial infections Immunology \- Primary T-lymphocyte immune abnormalities Lab \- Deficiency of 115,000-dalton lymphocyte membrane glycoprotein \- Reduced lymphocyte volume \- Circulating immature T-cells Inheritance \- X-linked ▲ 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-aminobutyric 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	IMMUNODEFICIENCY, X-LINKED, WITH DEFICIENCY OF 115,000 DALTON SURFACE GLYCOPROTEIN	c1839982	26,422	omim	https://www.omim.org/entry/308220	2019-09-22T16:18:07	{"mesh": ["C564120"], "omim": ["308220"], "synonyms": ["Alternative titles", "GPL115 DEFICIENCY"]}
Hypochloremia Chlorine SpecialtyEndocrinology Hypochloremia (or Hypochloraemia) is an electrolyte disturbance in which there is an abnormally low level of the chloride ion in the blood. The normal serum range for chloride is 97 to 107 mEq/L. It rarely occurs in the absence of other abnormalities. It is sometimes associated with hypoventilation.[1] It can be associated with chronic respiratory acidosis.[2] If it occurs together with metabolic alkalosis (decreased blood acidity) it is often due to vomiting. It is usually the result of hyponatremia or elevated bicarbonate concentration. It occurs in cystic fibrosis. ## References[edit] 1. ^ Lavie CJ, Crocker EF, Key KJ, Ferguson TG (October 1986). "Marked hypochloremic metabolic alkalosis with severe compensatory hypoventilation". South. Med. J. 79 (10): 1296–9. doi:10.1097/00007611-198610000-00025. PMID 3764530. 2. ^ Levitin H, Branscome W, Epstein FH (December 1958). "The pathogenesis of hypochloremia in respiratory acidosis". J. Clin. Invest. 37 (12): 1667–75. doi:10.1172/JCI103758. PMC 1062852. PMID 13611033. ## External links[edit] Classification D * ICD-10: E87.8 * ICD-9-CM: 276.9 * v * t * e Electrolyte imbalances Sodium * High * Salt poisoning * Low * Hypotonic * Isotonic * Cerebral salt-wasting syndrome Potassium * High * Low Chloride * High * Low Calcium * High * Low * Symptoms and signs * Chvostek sign * Trousseau sign * Milk-alkali syndrome * Disorders of calcium metabolism * Calcinosis (Calciphylaxis, Calcinosis cutis) * Calcification (Metastatic calcification, Dystrophic calcification) * Familial hypocalciuric hypercalcemia Phosphate * High * Low Magnesium * High * Low This medical treatment–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-aminobutyric 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	Hypochloremia	c0085680	26,423	wikipedia	https://en.wikipedia.org/wiki/Hypochloremia	2021-01-18T18:56:58	{"icd-9": ["276.9"], "icd-10": ["E87.8"], "wikidata": ["Q9003905"]}
Niemann-Pick disease type C2 is a rare metabolic condition that affects many different parts of the body. Although signs and symptoms can develop at any age (infancy through adulthood), most affected people develop features of the condition during childhood. Neimann-Pick disease type C2 may be characterized by ataxia (difficulty coordinating movements), vertical supranuclear gaze palsy (inability to move the eyes vertically), poor muscle tone, hepatosplenomegaly (enlarged liver and spleen), interstitial lung disease, intellectual decline, seizures, speech problems, and difficulty swallowing. Niemann-Pick disease type C2 is caused by changes (mutations) in the NPC2 gene and is inherited in an autosomal recessive manner. There is, unfortunately, no cure for Niemann-Pick disease type C2. 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-aminobutyric 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	Niemann-Pick disease type C2	c1843366	26,424	gard	https://rarediseases.info.nih.gov/diseases/3992/niemann-pick-disease-type-c2	2021-01-18T17:58:41	{"mesh": ["C536119"], "omim": ["607625"], "umls": ["C1843366"], "synonyms": ["NPC2"]}
A distinct form of Acute myeloid leukemia (AML) in which this chromosomal anomaly is found de novo or in therapy-related AML cases, and is characterized by frequent extramedullary involvement (mainly hepatomegaly, splenomegaly, lymphadenopathies, cutaneous infiltration, but also gum, bone, central nervous system, testicles involvement), severe coagulation disorder (disseminated intravascular coagulopathy or primary fibrinolysis) and poor prognosis. Morphologically, a blast population with a myelomonocytic stage of differentiation is observed. [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-aminobutyric 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	Acute myeloid leukemia with t(8;16)(p11;p13) translocation	c4511003	26,425	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=370026	2021-01-23T18:32:55	{"icd-10": ["C92.0"], "synonyms": ["AML with t(8;16)(p11;p13) translocation"]}
Fanconi syndrome (FS) affects the way the kidneys work. In FS, the kidneys do not properly absorb electrolytes and other substances into the body. Symptoms can begin at any age. They may include slow growth, fragile bones, frequent urination, and dehydration. Other symptoms include weakness, tremors, and fatigue. FS can occur as an isolated condition or as part of other diseases. Isolated FS may be caused by genetic variants in one of several different genes, and can be inherited in families. FS can also occur as part of another condition or as a side effect of certain medications and other environmental exposures. Diagnosis is based on the symptoms, clinical exam, and urine testing. Treatment depends on the cause, and is focused on managing 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-aminobutyric 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	Fanconi syndrome	c0341703	26,426	gard	https://rarediseases.info.nih.gov/diseases/9118/fanconi-syndrome	2021-01-18T18:00:31	{"mesh": ["D005198"], "omim": ["134600"], "orphanet": ["3337"], "synonyms": ["Primary Fanconi renotubular syndrome", "Primary Fanconi syndrome", "Fanconi renotubular syndrome"]}
Hairy palms and soles SpecialtyDermatology Hairy palms and soles are both a type of cutaneous condition characterized by a hereditary hypertrichosis affecting the palms and soles. This condition is inherited in an autosomal dominant fashion.[1] ## See also[edit] * List of cutaneous conditions * DKK2 * Masturbation, which an old wives' tale claims causes hairy palms ## 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. This dermatology article is a stub. You can help Wikipedia by expanding it. * v * t * e [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-aminobutyric 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	Hairy palms and soles	c1841694	26,427	wikipedia	https://en.wikipedia.org/wiki/Hairy_palms_and_soles	2021-01-18T18:55:12	{"gard": ["8461"], "mesh": ["C535620"], "umls": ["C1841694"], "wikidata": ["Q5639639"]}
## Clinical Features Marom et al. (2011) reported a consanguineous Arab Muslim kindred in which 5 boys ranging in age from 8 months to 7.5 years had global developmental delay, delayed motor development, lack of speech development, and mental retardation. All patients also had alacrima, and 3 had achalasia or swallowing difficulties. Two patients had anisocoria. None had evidence of adrenal dysfunction or a neuropathy, and no dysmorphic features were mentioned. Marom et al. (2011) noted the phenotypic overlap with triple-A syndrome (231550), which can have variable features. See also AAMR (615510), which is caused by mutation in the GMPPA gene (615495) on chromosome 2q35. Mapping By linkage analysis of a consanguineous Arab family with X-linked mental retardation associated with alacrima and achalasia, Marom et al. (2011) identified a shared 16.4-Mb continuous segment of identical alleles between markers rs2748314 and rs5906782 on chromosome Xp21.1-p11.23 (lod score of 1.8). Their findings suggested X-linked recessive inheritance, rather than autosomal recessive inheritance. The mother in 1 branch of the family had a fragile X premutation allele (55 repeats) in the FMR1 gene (309550), and her 3 sons with mental retardation had 66, 19, and 100 repeats, respectively. In addition, an affected boy in another branch of the family had normal fragile X results, suggesting that another genetic mechanism is responsible for the disorder. Genetic analysis excluded mutation in the aladin gene (AAAS; 605378), which is mutant in triple-A syndrome. INHERITANCE \- X-linked recessive HEAD & NECK Eyes \- Alacrima \- Anisocoria (unequal pupal size) ABDOMEN Gastrointestinal \- Achalasia \- Swallowing difficulties NEUROLOGIC Central Nervous System \- Global developmental delay \- Delayed motor development \- Lack of speech development \- Mental retardation ENDOCRINE FEATURES \- Normal adrenal function MISCELLANEOUS \- One large consanguineous Arab Muslim family has been reported (as of September 2011) ▲ 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-aminobutyric 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	MENTAL RETARDATION, X-LINKED, SYNDROMIC 17	c3275460	26,428	omim	https://www.omim.org/entry/300858	2019-09-22T16:19:21	{"doid": ["0060803"], "omim": ["300858"], "orphanet": ["289483"], "synonyms": ["Alternative titles", "MENTAL RETARDATION, X-LINKED, WITH ALACRIMA AND ACHALASIA"]}
A number sign (#) is used with this entry because of evidence that hereditary mixed polyposis syndrome-2 (HMPS2) is caused by heterozygous mutation in the BMPR1A (601299) gene on chromosome 10q23. For a discussion of genetic heterogeneity of HMPS, see HMPS1 (601228). Clinical Features Cao et al. (2006) described two 3-generation Singapore Chinese families with hereditary mixed polyposis (HMPS), noting that the 15 affected members had colonic polyps very similar to those of the HMPS1 family 'SM96' described by Thomas et al. (1996), with polyps showing hyperplastic, adenomatous, or juvenile-type morphology. Juvenile-type polyps were documented in only 4 individuals and were atypical, associated with hyperplastic changes. One-third of patients were documented to have polyps with mixed juvenile and hyperplastic or mixed hyperplastic and adenomatous components on different visits. The mean age of diagnosis in these families was 32.4 years. More than half of the patients had polyps throughout the large bowel; 3 individuals from each family eventually developed colorectal cancer. Mapping In two 3-generation Singapore Chinese families with hereditary mixed polyposis, Cao et al. (2006) excluded linkage to chromosome 15q. A genomewide linkage search on 15 family members from 'family 1' identified a 7-cM putative linkage interval on chromosome 10q23. Haplotype analysis of all 32 members from both families confirmed the linkage, with a maximum multipoint lod score of 4.6 (p less than 0.001); the 10q23.1-10q23.31 haplotypes segregated with disease in both families. Inheritance The transmission pattern of HMPS in both families reported by Cao et al. (2006) was consistent with autosomal dominant inheritance. Molecular Genetics In affected members of a 3-generation Singapore Chinese family (family 2) with hereditary mixed polyposis, Cao et al. (2006) identified heterozygosity for an 11-bp deletion in the BMPR1A gene (601299.0009). The deletion was not found in unaffected family members. In 2 affected members of 'family 1,' direct sequencing of all exons and flanking sequences of candidate genes BMPR1A, PTEN (601728), MINPP1 (605391), and PCDH21 (609502) revealed no detectable mutations. [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-aminobutyric 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	POLYPOSIS SYNDROME, HEREDITARY MIXED, 2	c1864730	26,429	omim	https://www.omim.org/entry/610069	2019-09-22T16:05:10	{"mesh": ["C566451"], "omim": ["610069", "601228"], "orphanet": ["157794"], "synonyms": ["HMPS"]}
Arteriovenous fistula Illustration of an arteriovenous fistula SpecialtyCardiology This article is about AV fistulas in general. For the surgical procedure, see Cimino fistula. "Arteriovenous shunt" redirects here. For nonpathologic AV shunts, see metarteriole and glomus body. An arteriovenous fistula is an abnormal connection or passageway between an artery and a vein.[1] It may be congenital, surgically created for hemodialysis treatments, or acquired due to pathologic process, such as trauma or erosion of an arterial aneurysm.[2] ## Contents * 1 Presentation * 1.1 Associated conditions * 1.2 Complications * 2 Causes * 3 Mechanism * 4 See also * 5 References * 6 External links ## Presentation[edit] ### Associated conditions[edit] * Hereditary hemorrhagic telangiectasia ### Complications[edit] Just like berry aneurysm, an intracerebral arteriovenous fistula can rupture causing subarachnoid hemorrhage.[3] ## Causes[edit] * Congenital (developmental defect) * Rupture of arterial aneurysm into an adjacent vein * Penetrating injuries * Inflammatory necrosis of adjacent vessels * Intentionally created (for example, Cimino fistula as vascular access for hemodialysis). Blood must be aspirated from the body of the patient, and since arteries are not easy to reach compared to the veins, blood may be aspirated from veins. The problem is that the walls of the veins are thin compared to those of the arteries. The AV fistula is the solution for this problem because, after 4-6 weeks, the walls of the veins become thicker due to the high arterial pressure. Thus, this vein can now tolerate needles during hemodialysis sessions. ## Mechanism[edit] When an arteriovenous fistula is formed involving a major artery like the abdominal aorta, it can lead to a large decrease in peripheral resistance. This lowered peripheral resistance causes the heart to increase cardiac output to maintain proper blood flow to all tissues. The physical manifestations of this typically consist of a relatively normal systolic blood pressure accompanied by decreased diastolic blood pressure, resulting in a wider pulse pressure. Normal blood flow in the brachial artery is 85 to 110 milliliters per minute (mL/min). After the creation of a fistula, the blood flow increases to 400–500 mL/min immediately, and 700–1,000 mL/min within 1 month. A brachiocephalic fistula above the elbow has a greater flow rate than a radiocephalic fistula at the wrist. Both the artery and the vein dilate and elongate in response to the greater blood flow and shear stress, but the vein dilates more and becomes "arterialized". In one study, the cephalic vein increased from 2.3 mm to 6.3 mm diameter after 2 months. When the vein is large enough to allow cannulation, the fistula is defined as "mature".[4] An arteriovenous fistula can increase preload.[5] AV shunts also decrease the afterload of the heart. This is because the blood bypasses the arterioles which results in a decrease in the total peripheral resistance (TPR). AV shunts increase both the rate and volume of blood returning to the heart. ## See also[edit] * Arteriovenous malformation * Branham sign * Carotid-cavernous fistula * Fistula * Human umbilical vein graft * Pseudoaneurysm * Vascular bypass ## References[edit] 1. ^ "Arteriovenous Fistulas: Background, Pathophysiology, Etiology". 2017-01-07. Cite journal requires `\|journal=` (help) 2. ^ "Arteriovenous fistula - Symptoms and causes". Mayo Clinic. Retrieved 2019-12-05. 3. ^ Park, Myung K. (2002). Pediatric cardiology for practitioners. With a contribution by R. George Troxler (4th ed.). St. Louis: Mosby. ISBN 978-0-323-01444-1. 4. ^ Vascular, Vol. 14, Supl. 1, Nov. 2006, p. S1 5. ^ "Pulmonary: Heart Failure". Archived from the original on 1 February 2009. Retrieved 2008-12-21. ## External links[edit] Classification D * ICD-10: I28.0, I77.0 * ICD-9-CM: 414.19, 417.0, 447.0, 747.3 * MeSH: D001164 * DiseasesDB: 32435 * SNOMED CT: 439470001 External resources * eMedicine: med/169 * v * t * e Cardiovascular disease (vessels) Arteries, arterioles and capillaries Inflammation * Arteritis * Aortitis * Buerger's disease Peripheral artery disease Arteriosclerosis * Atherosclerosis * Foam cell * Fatty streak * Atheroma * Intermittent claudication * Critical limb ischemia * Monckeberg's arteriosclerosis * Arteriolosclerosis * Hyaline * Hyperplastic * Cholesterol * LDL * Oxycholesterol * Trans fat Stenosis * Carotid artery stenosis * Renal artery stenosis Other * Aortoiliac occlusive disease * Degos disease * Erythromelalgia * Fibromuscular dysplasia * Raynaud's phenomenon Aneurysm / dissection / pseudoaneurysm * torso: Aortic aneurysm * Abdominal aortic aneurysm * Thoracic aortic aneurysm * Aneurysm of sinus of Valsalva * Aortic dissection * Aortic rupture * Coronary artery aneurysm * head / neck * Intracranial aneurysm * Intracranial berry aneurysm * Carotid artery dissection * Vertebral artery dissection * Familial aortic dissection Vascular malformation * Arteriovenous fistula * Arteriovenous malformation * Telangiectasia * Hereditary hemorrhagic telangiectasia Vascular nevus * Cherry hemangioma * Halo nevus * Spider angioma Veins Inflammation * Phlebitis Venous thrombosis / Thrombophlebitis * primarily lower limb * Deep vein thrombosis * abdomen * Hepatic veno-occlusive disease * Budd–Chiari syndrome * May–Thurner syndrome * Portal vein thrombosis * Renal vein thrombosis * upper limb / torso * Mondor's disease * Paget–Schroetter disease * head * Cerebral venous sinus thrombosis * Post-thrombotic syndrome Varicose veins * Gastric varices * Portacaval anastomosis * Caput medusae * Esophageal varices * Hemorrhoid * Varicocele Other * Chronic venous insufficiency * Chronic cerebrospinal venous insufficiency * Superior vena cava syndrome * Inferior vena cava syndrome * Venous ulcer Arteries or veins * Angiopathy * Macroangiopathy * Microangiopathy * Embolism * Pulmonary embolism * Cholesterol embolism * Paradoxical embolism * Thrombosis * Vasculitis Blood pressure Hypertension * Hypertensive heart disease * Hypertensive emergency * Hypertensive nephropathy * Essential hypertension * Secondary hypertension * Renovascular hypertension * Benign hypertension * Pulmonary hypertension * Systolic hypertension * White coat hypertension Hypotension * Orthostatic hypotension [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-aminobutyric 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	Arteriovenous fistula	c0003855	26,430	wikipedia	https://en.wikipedia.org/wiki/Arteriovenous_fistula	2021-01-18T19:05:17	{"gard": ["6150"], "mesh": ["D001164"], "umls": ["C0003855"], "icd-9": ["414.19", "447.0", "747.3", "417.0"], "icd-10": ["I77.0", "I28.0"], "orphanet": ["98731"], "wikidata": ["Q707837"]}
## Clinical Features The features of Klippel-Trenaunay-Weber syndrome are large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues. The disorder clinically resembles Sturge-Weber syndrome (185300), and indeed the 2 have been associated in some cases (Harper, 1971). Lindenauer (1965) described a brother and sister with Klippel-Trenaunay syndrome. Both patients had varicosity, hypertrophy, and hemangioma, but no arteriovenous fistula. Lindenauer (1965) suggested that patients who also have arteriovenous fistula have a different disorder that might be called Parkes Weber syndrome, since Weber (1907) described cases of this type as well as cases seemingly identical to those of Klippel and Trenaunay (1900). Lindenauer (1965) also suggested that the deep venous system is atretic in KTW syndrome and, as a corollary, that stripping of varicose veins is unwise. Campistol et al. (1988) described an affected 19-year-old woman who had multiple renal pelvic hemangiomas and renal artery aneurysm. Viljoen (1988) reviewed the clinical features of the syndrome. Lawlor and Charles-Holmes (1988) described a 25-year-old woman with KTW syndrome who had life-threatening menorrhagia due to uterine hemangioma. In an infant with this syndrome, Mor et al. (1988) observed hydrops fetalis (gross edema of the limbs, ascites, and palpable liver). The infant lost 520 gm of weight in the first 6 days of life without medication. Muluk et al. (1995) described the case of a 32-year-old man in whom progressive pulmonary insufficiency was found to be due to repeated pulmonary emboli from the deep venous malformations associated with KTS. Samuel and Spitz (1995) reviewed the clinical features and management of 47 children with KTS treated since 1970. Hemangiomas and soft tissue and/or skeletal hypertrophy were present in all 47 patients; venous varicosities developed in 37 (79%). None had clinical evidence of macrofistulous arteriovenous communications. Thromboembolic episodes occurred in 5 children (11%), and 25 (53%) experienced thrombophlebitis. The Kasabach-Merritt syndrome (141000) was observed in 21 (45%) children, and 6 (13%) presented with high-output heart failure. Other manifestations included hematuria in 5 (11%), rectal or colonic hemorrhage in 6 (13%), and vaginal, vulval, or penile bleeding in 6 (13%) children with visceral and pelvic hemangiomas. In 26 patients (55%), symptomatic treatment only was required. Surgery was undertaken in selected cases for complications of the hemangioma, for cosmetic reasons, and for chronic venous insufficiency. Only 1 of the 4 children who underwent resection of varicose veins improved. Ceballos-Quintal et al. (1996) reported a family in which a child had large skin hemangiomata, overgrowth of the right leg, and severe heart defects (patent ductus arteriosus (see 607411), atrial septal defect, prolapsed tricuspid valve, and pulmonic stenosis). Her mother had a large capillary hemangioma on the left side of the back and developed severe varicosities in both legs. The maternal grandmother developed severe varicosities of the legs at a young age. Cohen (2000) defined Klippel-Trenaunay syndrome and challenged 4 conceptions frequently found in the literature on this disorder. He considered it improper to add arteriovenous fistulas to the syndrome and on that basis to rename the disorder Klippel-Trenaunay-Weber syndrome. Although Parkes Weber syndrome (as Cohen called it) and Klippel-Trenaunay syndrome are similar, slow flow venous malformations are predominant in KTS, whereas arteriovenous fistulas are always found in Parkes Weber syndrome. Large series of patients with Parkes Weber syndrome were reported by Robertson (1956) and Young (1988). The involved limb is warm. The color of the cutaneous vascular malformation is usually more diffuse and pinker than that observed in KTS. Lymphatic malformations found in KTS do not occur in Parkes Weber syndrome. Cohen (2000) questioned whether Sturge-Weber syndrome and KTS are the same disorder. Cohen (2000) considered the affected brother and sister described by Lindenauer (1965) as the only well-documented examples of KTS in a family. Hall et al. (2007) reported 6 patients with phakomatosis pigmentovascularis type II, consisting of nevus flammeus and mongolian spots; 2 patients were diagnosed with Klippel-Trenaunay syndrome, and 3 had features consistent with both Klippel-Trenaunay and Sturge-Weber syndromes. There were 4 patients with macrocephaly and 1 with microcephaly; 4 patients had CNS abnormalities, including 3 with hydrocephalus, 1 with Arnold-Chiari malformation, and 1 with polymicrogyria; 3 patients had mental retardation; and 1 patient had seizures. Hall et al. (2007) suggested that in the presence of persistent, extensive, and aberrant mongolian spots, the vascular abnormalities of Klippel-Trenaunay and Sturge-Weber syndromes carry a worse prognosis. Inheritance Aelvoet et al. (1992) provided evidence that Klippel-Trenaunay syndrome occasionally shows familial aggregation. In addition, they found isolated vascular nevi to be overrepresented in relatives of KTS patients. Happle (1993) suggested that what he referred to as paradominant inheritance most satisfactorily explains the findings. According to this concept, KTS would be caused by a single gene defect. Heterozygous individuals would be, as a rule, phenotypically normal, and therefore the allele would be transmitted imperceptibly through many generations. The trait would only be expressed when a somatic mutation occurred in the normal allele at an early stage of embryogenesis, giving rise to a clonal population of cells either homozygous or hemizygous for the KTS mutation. One example of a genetic mechanism that might cause homozygosity of a cell population arranged in a mosaic pattern is somatic recombination. Presumably, diffuse involvement of the entire body would not be possible because of nonviability of embryos developing from a homozygous zygote. Ceballos-Quintal et al. (1996) identified a family in which clinical signs in the mother and maternal grandmother were interpreted as mild expression of the KTW syndrome and the family tree was thought to support autosomal dominant inheritance. Berry et al. (1998) reviewed 49 cases of KTS. All were sporadic. They speculated that the disorder may be due to a somatic mutation for a factor critical to vasculogenesis and angiogenesis in embryonic development. Lorda-Sanchez et al. (1998) presented an epidemiologic analysis of a consecutive series of cases of KTW syndrome identified in the Spanish Collaborative Study of Congenital Malformations. They found an increase in parental age and in the number of pregnancies, as well as familial occurrence of hemangiomas. These observations suggested a genetic contribution to the occurrence of KTW syndrome. Although the effect of increased paternal age on the origin of spontaneous germline mutations is well documented for dominant conditions, sporadic conditions that are presumably caused by somatic mosaicism are not supposed to show advanced parental age. The increased parental age would be consistent with the model of paradominant inheritance. Epidemiologic studies of retinoblastoma, a classic example of the 2-hit model of Knudson, have shown an association of older parental age with the first mutation event in germinal cells in sporadic hereditary retinoblastoma (DerKinderen et al., 1990) but no evidence for risk factors related to the second somatic mutation (Matsunaga et al., 1990). Cytogenetics Whelan et al. (1995) reported the case of a girl with KTW syndrome associated with a reciprocal translocation: t(5;11)(q13.3;p15.1). This raised the possibility that this disorder is due to a single gene defect and that the gene is located on 5q or p11. At birth a capillary hemangioma of the right arm and a vascular anomaly of the left trunk with extension onto the left thigh was noted. At age 3 months, the patient's mother noted that the right second toe was larger than corresponding left toe. Subsequent progression to right leg hypertrophy was noted in the first 5 years of life. Timur et al. (2004) identified a de novo supernumerary ring chromosome in a patient with mild mental retardation, long tapering fingers, elongated and thin feet, and KTS. The ring marker chromosome was found to be mosaic, present in 24% of cells, and was shown to be derived from chromosome 18, r(18). FISH was used to define the breakpoints involved in formation of the r(18). The 18p breakpoint was located less than 10 cM from the centromere; the 18q breakpoint was located between the centromere and BAC clone 666n19 (GenBank AC036178), representing a region of less than 40 kb. The data suggested that the r(18) mostly originated from 18p, with an estimated size of less than 10 cM. The de novo translocation t(8;14)(q22.3;q13), reported by Timur et al. (2000) and Wang et al. (2001), points to a pair of chromosomes different from those focused on by Whelan et al. (1995) as the possible site of the Klippel-Trenaunay gene. Wang et al. (2001) used FISH to define the breakpoints on 8q22.3 and 14q13 in relation to specific markers and suggested that their study provided the basis for the fine mapping and ultimate cloning of a novel vascular gene at 8q22.3 or 14q13. Tian et al. (2004) characterized the breakpoint of the translocation in a patient with Klippel-Trenaunay syndrome described by Whelan et al. (1995) and identified the VG5Q gene (608464). The chromosomal translocation resulted in 3-fold increased expression of VG5Q, suggesting that the t(5;11) translocation may be a functional genetic defect that can lead to overexpression of VG5Q and result in increased angiogenesis. Diagnosis By ultrasound examination, Christenson et al. (1997) made the prenatal diagnosis of KTW syndrome complicated by early fetal congestive heart failure. The postnatal course was complicated by Kasabach-Merritt syndrome (141000) of thrombocytopenia due to platelet consumption within the hemangioma. Neonatal cardiopulmonary resuscitation and limb amputation were required. Molecular Genetics Sperandeo et al. (2000) described a family in which 1 first cousin had KTW syndrome and the other had Beckwith-Wiedemann syndrome (BWS; 130650). The probands, sons of 2 sisters, showed relaxation of the maternal IGF2 (147470) imprinting, although they inherited different 11p15.5 alleles from their mothers and did not show any chromosome rearrangement. The patient with BWS also displayed hypomethylation of KvDMR1, a maternally methylated CpG island within an intron of the KvLQT1 gene (607542). The unaffected brother of the BWS proband shared the same maternal and paternal 11p15.5 haplotype with his brother, but the KvDMR1 locus was normally methylated. Methylation of the H19 gene (103280) was normal in both the BWS and KTW syndrome probands. Linkage between the IGF2 receptor gene (IGF2R; 147280) and the tissue overgrowth was excluded. These results raised the possibility that a defective modifier or regulatory gene unlinked to 11p15.5 caused a spectrum of epigenetic alterations in the germline or early development of both cousins, ranging from the relaxation of IGF2 imprinting in the KTW syndrome proband to disruption of both the imprinted expression of IGF2 and the imprinted methylation of KvDMR1 in the BWS proband. The data indicated that loss of IGF2 imprinting is not necessarily linked to alteration of methylation at the KvDMR1 or H19 loci and supports the notion that IGF2 overexpression is involved in the etiology of tissue hypertrophy observed in different overgrowth disorders, including KTW syndrome. Tian et al. (2004) identified a heterozygous glu133-to-lys (E133K) nonconservative substitution in the VG5Q gene (AGGF1; 608464) in 5 of 130 unrelated individuals with Klippel-Trenaunay syndrome and none of 200 controls. In several in vitro assays, Tian et al. (2004) showed that VG5Q carrying the E133K mutation acted as a more potent angiogenic factor than wildtype protein, suggesting that it is a gain-of-function mutation. The authors suggested that VG5Q may be a susceptibility gene for KTS. In contrast, Barker et al. (2006) identified a heterozygous E133K change in 9 (3.3%) of 275 healthy controls. One of 24 patients with an asymmetric overgrowth syndrome, but not KTS, carried the E133K substitution, but the patient's unaffected mother also carried the substitution. Barker et al. (2006) concluded that E133K is a polymorphism and does not cause KTS. Gutierrez et al. (2006) identified a heterozygous E133K substitution in 17 (2.2%) of 768 unrelated Spanish control individuals and 3 (1.3%) of 223 patients or parents of patients with overgrowth syndromes, none of whom had Klippel-Trenaunay syndrome. The authors concluded that E133K is a polymorphism. Kurek et al. (2012) found somatic mosaicism for a missense mutation in the PIK3CA gene (171834) in patients with CLOVE syndrome (612918), an overgrowth syndrome with features overlapping those of KTW syndrome. Analysis of lesional tissue from 15 patients who had been diagnosed with KTW syndrome revealed somatic mosaicism for a missense mutation in PIK3CA (H1047R; 171834.0001) in 3 of them. INHERITANCE \- Isolated cases HEAD & NECK Eyes \- Glaucoma CARDIOVASCULAR Vascular \- Large cutaneous hemangiomata, capillary and cavernous \- Arteriovenous fistula \- Lymphedema \- Lymphangioma SKELETAL Limbs \- Asymmetric limb hypertrophy \- Macrodactyly \- Syndactyly \- Polydactyly \- Oligodactyly SKIN, NAILS, & HAIR Skin \- Hyperpigmented nevi and streak NEUROLOGIC Central Nervous System \- Mental retardation \- Seizure HEMATOLOGY \- Kasabach-Merritt syndrome ▲ 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-aminobutyric 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	KLIPPEL-TRENAUNAY-WEBER SYNDROME	c0022739	26,431	omim	https://www.omim.org/entry/149000	2019-09-22T16:39:15	{"doid": ["2926"], "mesh": ["D007715"], "omim": ["149000"], "icd-10": ["Q87.2"], "orphanet": ["2346", "90308"], "synonyms": ["Alternative titles", "KTW SYNDROME", "KLIPPEL-TRENAUNAY SYNDROME", "ANGIOOSTEOHYPERTROPHY SYNDROME"]}
A rare multiple congenital anomalies syndrome characterized by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has 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-aminobutyric 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	Microgastria-limb reduction defect syndrome	c1834929	26,432	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2538	2021-01-23T17:26:32	{"gard": ["3640"], "mesh": ["C537554"], "omim": ["156810"], "umls": ["C1834929"], "icd-10": ["Q87.8"]}
Hereditary hemochromatosis is a disorder that causes the body to absorb too much iron from the diet. The excess iron is stored in the body's tissues and organs, particularly the skin, heart, liver, pancreas, and joints. Because humans cannot increase the excretion of iron, excess iron can overload and eventually damage tissues and organs. For this reason, hereditary hemochromatosis is also called an iron overload disorder. Early symptoms of hereditary hemochromatosis may include extreme tiredness (fatigue), joint pain, abdominal pain, weight loss, and loss of sex drive. As the condition worsens, affected individuals may develop arthritis, liver disease (cirrhosis) or liver cancer, diabetes, heart abnormalities, or skin discoloration. The appearance and severity of symptoms can be affected by environmental and lifestyle factors such as the amount of iron in the diet, alcohol use, and infections. There are four types of hereditary hemochromatosis, which are classified depending on the age of onset and other factors such as genetic cause and mode of inheritance. Type 1, the most common form of the disorder, and type 4 (also called ferroportin disease) begin in adulthood. Men with type 1 or type 4 hemochromatosis typically develop symptoms between the ages of 40 and 60, and women usually develop symptoms after menopause. Type 2 hemochromatosis is known as a juvenile-onset disorder because symptoms often begin in childhood. By age 20, iron accumulation causes decreased or absent secretion of sex hormones. Affected females usually begin menstruation normally but menses stop after a few years. Males may experience delayed puberty or symptoms related to a shortage of sex hormones. If type 2 hemochromatosis is untreated, potentially fatal heart disease becomes evident by age 30. The onset of type 3 hemochromatosis is usually intermediate between types 1 and 2 with symptoms generally beginning before age 30. ## Frequency Type 1 hemochromatosis is one of the most common genetic disorders in the United States, affecting about 1 million people. It most often affects people of Northern European descent. The other types of hemochromatosis are considered rare and have been studied in only a small number of families worldwide. ## Causes Mutations in several genes can cause hereditary hemochromatosis. Type 1 hemochromatosis results from mutations in the HFE gene, and type 2 hemochromatosis results from mutations in either the HJV or HAMP gene. Mutations in the TFR2 gene cause type 3 hemochromatosis, and mutations in the SLC40A1 gene cause type 4 hemochromatosis. The proteins produced from these genes play important roles in regulating the absorption, transport, and storage of iron in the body. Mutations in any of these genes impair the control of the intestine's absorption of iron from foods during digestion and alter the distribution of iron to other parts of the body. As a result, iron accumulates in tissues and organs, which can disrupt their normal functions. ### Learn more about the genes associated with Hereditary hemochromatosis * HAMP * HFE * HJV * SLC40A1 * TFR2 ## Inheritance Pattern Types 1, 2, and 3 hemochromatosis are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene but do not show signs and symptoms of the condition. Type 4 hemochromatosis is distinguished by its autosomal dominant inheritance pattern. With this type of inheritance, one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-aminobutyric 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	Hereditary hemochromatosis	c3469186	26,433	medlineplus	https://medlineplus.gov/genetics/condition/hereditary-hemochromatosis/	2021-01-27T08:25:43	{"gard": ["10746", "10417", "10092", "10093", "10094"], "omim": ["235200", "602390", "613313", "604250", "606069"], "synonyms": []}
A number sign (#) is used with this entry because of evidence that pancreatic agenesis-1 (PAGEN1) is caused by homozygous or compound heterozygous mutation in the PDX1 gene (600733) on chromosome 13q12. ### Genetic Heterogeneity of Pancreatic Agenesis Another form of isolated pancreatic agenesis (PAGEN2; 615935) is caused by mutation in a distal enhancer of the PTF1A gene (607194). Pancreatic and cerebellar agenesis (PACA; 609069) is caused by mutation within the PTF1A gene itself. Pancreatic agenesis associated with congenital heart defects (HDCA; 600001) is caused by mutation in the GATA6 gene (601656). Partial agenesis of the dorsal pancreas has also been reported (167755). Clinical Features Winter et al. (1986) reported a syndrome of endocrine and exocrine pancreatic insufficiency in 2 brothers who were 'small for dates' at birth and had neonatal-onset insulin-dependent diabetes mellitus. In contrast to cases with absence of the islets of Langerhans (304790), serum C-peptide and glucagon levels were measurable. Dourov and Buyl-Strouvens (1969) and Lemons et al. (1979) described absence (agenesis) of the pancreas. Intrauterine growth retardation appears to relate to the fact that insulin is a major intrauterine growth factor. Exocrine and endocrine tissues of the pancreas originate from common progenitor cells. Wildling et al. (1993) reported agenesis of the dorsal pancreas in a woman with diabetes mellitus and in both of her sons. Stoffers et al. (1997) stated that only 8 cases of pancreatic agenesis had been reported: Wright et al. (1993); Dourov and Buyl-Strouvens (1969); Mehes et al. (1976); Lemons et al. (1979); Howard et al. (1980); Widness et al. (1982); and Sherwood et al. (1974). Schwitzgebel et al. (2003) studied an infant girl, born of nonconsanguineous parents, who developed hyperglycemia at 12 days of life. She failed to thrive despite being on an insulin pump, and exocrine pancreatic insufficiency was diagnosed; after pancreatic enzyme replacement therapy was begun, she developed normally. Abdominal ultrasound and CT scan revealed no pancreas. There was a family history of type 2 diabetes on both sides (maternal and paternal uncles and grandmothers), and her mother had gestational diabetes. Both her mother and father had high normal fasting blood glucose levels, but no glucose intolerance. Thomas et al. (2009) described an infant boy who within 24 hours of life had elevated glucose levels requiring an insulin drip; at 3 weeks of age he was found to have severe exocrine pancreatic insufficiency. Management was difficult because of wide fluctuations in blood glucose concentrations in quick succession, inconstancy of appetite and feeding schedule, malabsorption, subcutaneous infections at the pump insertion site, and frequent illnesses. Although he had steady weight gain, he had not yet experienced catch-up growth at 18 months of age, with length at the fiftieth percentile for a 12-month-old child, and weight at the fiftieth percentile for a 6 month old. Ultrasound at 2 weeks of age appeared to show structurally normal mid and distal body of the pancreas, although an ultrasound 1 week later was interpreted as showing only the head of the pancreas. CT of the pancreas at 7 months of age was equivocal, and an ultrasound at 1 year of age revealed a small hypoechoic structure in the area of the pancreatic head; due to his small size, however, a definitive conclusion could not be made. His mother had gestational diabetes during both of her pregnancies, and his father had hyperglycemia treated with oral agents; Thomas et al. (2009) stated that both parents were later given a diagnosis of maturity-onset diabetes of the young (see MODY4 (606392) and Fajans et al., 2010). In addition, both maternal and paternal grandparents were being treated for type 2 diabetes. ### Clinical Variability Nicolino et al. (2010) reported a boy and girl, first cousins born of consanguineous parents, who had permanent neonatal diabetes treated by insulin pump with excellent linear growth thereafter: both patients' weight, length, and bone age were within normal ranges at 4 years of age. Although there were no clinical signs of exocrine pancreas deficiency, biochemical investigation revealed low or undetectable serum lipase levels, and stool examination showed slightly increased fecal fat excretion, low chymotrypsin, and low elastase levels. In addition, IGF1 levels were very low, and vitamins A, D, E, and K levels were at the lower limits of normal, consistent with some degree of malabsorption. Abdominal ultrasound revealed a normal-sized pancreas in the boy, whereas the girl had a well-individualized and homogeneous head of the pancreas, but the body and tail of the pancreas could not be identified. Both sets of parents were healthy and nondiabetic, and none of the putative obligate carriers in the pedigree were reported to be diabetic. Oral glucose tolerance testing (OGTT) in the parents showed normal fasting plasma glucose and normal glucose tolerance, with preserved first-phase but reduced late-phase insulin secretory responses. With intravenous GTT, the first-phase insulin secretory response tended to be low, and was very low in the 2 fathers. Ultrasonography of the pancreas was normal in the 4 parents, and levels of serum lipase, IGF1, and vitamins A, D, E, and K were within normal ranges. Mapping In a pedigree in which a boy and girl, first cousins born of consanguineous parents, had permanent neonatal diabetes mellitus with subclinical exocrine deficiency, Nicolino et al. (2010) performed a genome scan and identified a single 4.4-Mb region compatible with linkage to chromosome 13q12 (lod score, 3.24), between SNPs rs943721 and rs723918. Molecular Genetics In a Caucasian female infant who presented with neonatal diabetes mellitus at birth and pancreatic exocrine insufficiency at 18 days of life, originally reported by Wright et al. (1993), Stoffers et al. (1997) identified homozygosity for a 1-bp deletion in the PDX1 gene (600733.0001). There was a strong family history of noninsulin-dependent diabetes mellitus. In a later paper, Stoffers et al. (1997) demonstrated that members of the family who were heterozygous for the mutation had early-onset type 2 diabetes mellitus (MODY4; 606392). In an infant girl with pancreatic agenesis, Schwitzgebel et al. (2003) sequenced both exons of the PDX1 gene and identified compound heterozygosity for 2 missense mutations (600733.0008 and 600733.0009). Her parents, who had elevated fasting blood glucose levels but no glucose intolerance, were each heterozygous for 1 of the mutations, and 1 of the mutations was also detected in heterozygosity in a maternal uncle with type 2 diabetes. Thomas et al. (2009) reported a family in which a male infant with pancreatic agenesis, whose parents were later determined to have MODY, was homozygous for the same 1-bp deletion in the PDX1 gene previously identified by Stoffers et al. (1997) (600733.0001) in a similar family, originally reported by Wright et al. (1993). Thomas et al. (2009) suggested that the 2 families might be related. Fajans et al. (2010) restudied the family reported by Thomas et al. (2009), ultimately identifying 110 members of the 5-generation Michigan-Kentucky pedigree; 34 family members were being treated for diabetes, and 10 of those with diabetes carried the 1-bp deletion in PDX1 and were considered to have MODY4. Patients with MODY as well as those with type 2 diabetes (125853) were characterized by obesity and hyperinsulinemia. Fajans et al. (2010) identified a single 2.5-Mb region on chromosome 13 shared by the Michigan-Kentucky pedigree and a Virginia pedigree, originally reported by Wright et al. (1993), that also carried the 1-bp deletion in PDX1. The size of the shared region suggested that the PDX1 frameshift mutation emerged in a recent ancestor common to both probands, and that a complex pedigree structure connected the 2 probands. In a boy and girl, first cousins born of consanguineous parents, who had permanent neonatal diabetes mellitus with subclinical exocrine deficiency mapping to chromosome 13q21, Nicolino et al. (2010) sequenced the candidate gene PDX1 and identified homozygosity for a missense mutation (E178G; 600733.0010). The girl had partial agenesis of the pancreas, with only the head visualized on ultrasound, whereas the boy appeared to have a normal-sized pancreas by ultrasound. The 4 parents, who were all heterozygous for E178G, were asymptomatic and nondiabetic, but showed abnormalities in insulin secretory responses during glucose tolerance testing. INHERITANCE \- Autosomal recessive GROWTH Other \- Intrauterine growth retardation \- Failure to thrive ABDOMEN Pancreas \- Pancreatic agenesis or hypoplasia \- Exocrine pancreatic insufficiency ENDOCRINE FEATURES \- Neonatal insulin-dependent diabetes mellitus LABORATORY ABNORMALITIES \- Serum C-peptide and glucagon levels measurable MISCELLANEOUS \- Some patients have subclinical exocrine pancreatic deficiency MOLECULAR BASIS \- Caused by mutation in the pancreas/duodenum homeobox protein 1 gene (PDX1, 600733.0001 ) ▲ 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-aminobutyric 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	PANCREATIC AGENESIS 1	c1850096	26,434	omim	https://www.omim.org/entry/260370	2019-09-22T16:23:44	{"doid": ["0050877"], "mesh": ["C564908"], "omim": ["260370"], "orphanet": ["2805"], "synonyms": ["Alternative titles", "PAGEN", "PANCREATIC HYPOPLASIA, CONGENITAL"]}
Pseudothrombophlebitis SpecialtyPhlebology Pseudothrombophlebitis is a clinical condition where there are signs and symptoms of phlebitis in the absence of a thrombophlebitis lesion. Symptoms include pain, swelling, erythema and tenderness evolving over hours or days. It is often associated with the rupture or dissection of a popliteal cyst otherwise known as a Baker's cyst,[1] although it can be associated with other disorders such as the arthritides. It may also occur as an orthopaedic surgical complication, secondary to trauma or as a presentation of septic arthritis. It is crucial to differentiate this condition from deep vein thrombosis as the treatment for DVT can cause adverse effects in patients with pseudothrombophlebitis. ## Contents * 1 Presentation * 2 Pathophysiology * 3 Diagnosis * 4 Treatment * 5 References ## Presentation[edit] The symptoms of pseudothrombophlebitis include pain, swelling, erythema and tenderness. It most commonly, but not exclusively, affects the legs. The presence of a popliteal cyst makes this diagnosis more likely. However, the presence of a popliteal cyst does not rule out deep vein thrombosis and warrants further investigation. Pseudothrombophlebitis and deep vein thrombosis are not mutually exclusive conditions, and in rare instances may co-occur.[2] Pseudothrombophlebitis is clinically indistinguishable from a true thrombophlebitis such as deep vein thrombosis; the symptoms and history are similar and these conditions cannot be distinguished by clinical examination without radiological or arthroscopic imaging. It is crucial however to differentiate pseudothrombophlebitis from DVT as the thrombolytic and anticoagulant treatments usually administered in DVT are not effective in treating pseudothrombophlebitis, and may have adverse effects exacerbating the condition.[3] ## Pathophysiology[edit] Commonly, pseudothrombophlebitis is caused by rupture of a popliteal cyst causing leakage of synovial fluid, leading to inflammatory irritation to the gastrocnemius muscle. Pseudothrombophlebitis is not the only possible consequence of a popliteal cyst. The existence of a large popliteal cyst can be a risk factor for deep vein thrombosis. Furthermore, a ruptured popliteal cyst may cause compartment syndrome in the calf or even the thigh. ## Diagnosis[edit] Where pseudothrombophlebitis and thrombophlebitis present as differential diagnoses, DVT is excluded by the absence of a deep vein thrombosis, and the presence of a popliteal cyst is suggestive of pseudothrombophlebitis. The differentiation requires the use of radiological or arthroscopic imaging modalities. In this condition, imaging modalities often indicated include the use of Doppler and non-Doppler ultrasound, arthrography, venography magnetic resonance imaging (MRI) and computerised axial tomography (CAT scan). Ultrasound modalities in general are useful for the detection of a ruptured or dissecting popliteal cysts, while Doppler ultrasound has the additional benefit of detecting venous stenosis such as that caused by deep vein thrombosis. Arthrography and venography using imaging dyes allow for the detection of popliteal cysts and the exclusion of thrombotic lesions but are invasive procedures. Magnetic resonance imaging and computerised axial tomography scans allow for the detection of a ruptured or dissected popliteal cyst and, if in the same plane as the scan, the detection of a deep vein thrombosis. ## Treatment[edit] Once diagnosed, and after deep vein thrombosis other disease masquerades have been excluded, the treatment for pseudothrombophlebitis is supportive. This includes the use of anti-inflammatory medications such as NSAIDs. ## References[edit] 1. ^ 1\. Munk, Peter L Lee, Mark J. Ruptured Baker's cyst producing a pseudothrombophlebitis syndrome Canadian Journal of Surgery Aug 2000 43(4) 255 2. ^ Drescher MJ. Smally AJ. Thrombophlebitis and pseudothrombophlebitis in the ED. Am J Emerg Med. 15(7):683-5, 1997 Nov. 3. ^ Drescher MJ. Smally AJ. Thrombophlebitis and pseudothrombophlebitis in the ED. Am J Emerg Med. 15(7):683-5, 1997 Nov. [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-aminobutyric 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	Pseudothrombophlebitis	c1868726	26,435	wikipedia	https://en.wikipedia.org/wiki/Pseudothrombophlebitis	2021-01-18T18:35:45	{"umls": ["C1868726"], "wikidata": ["Q7255646"]}
A severe form of citrullinemia type 1 characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits. [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-aminobutyric 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	Acute neonatal citrullinemia type I	None	26,436	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=247546	2021-01-23T18:32:47	{"icd-10": ["E72.2"], "synonyms": ["Acute neonatal citrullinemia type 1", "Classic citrullinemia type 1", "Classic citrullinemia type I"]}
Aranda and Dorantes (1977) described cyclic thrombocytopenia in a boy and his father. Four sibs showed cyclic variation in platelet counts from the normal to the thrombocytosis range. Lewis (1974) suggested that thrombopoietin deficiency underlies some cases of cyclic thrombocytopenia. A preponderance of reported cases have been female and sporadic. Lewis (1974) demonstrated that excessive peripheral platelet destruction was not occurring. Furthermore, platelets rose between menstrual periods, a normal response presumably to sex hormones. Inheritance \- Autosomal dominant Heme \- Bleeding diathesis \- Thrombocytopenia \- Cyclic neutropenia ▲ 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-aminobutyric 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	THROMBOCYTOPENIA, CYCLIC	c0272282	26,437	omim	https://www.omim.org/entry/188020	2019-09-22T16:32:42	{"mesh": ["C536899"], "omim": ["188020"], "icd-10": ["D69.3"]}
Hereditary sensory autonomic neuropathy (HSAN) is a group of rare peripheral neuropathies where neurons and/or axons are affected. The major feature of these conditions is the loss of large myelinated and unmyelinated fibers. Myelin is an insulating layer, or sheath that forms around nerves, made up of protein and fatty substances, that allows electrical impulses to transmit along the nerve cells. If myelin is damaged, these impulses slow down. Symptoms of HSAN include diminished sensation of pain and its associated consequences of delayed healing, Charcot arthopathies, infections, osteomyelitis, and amputations. They have been categorized into types one through five, although some children do not fit well into this classification and do not all have altered pain sensation and/or autonomic function. HSAN type I is the most common form of HSAN. It is caused by a mutation in the SPTLC1 gene and inherited in an autosomal dominant pattern. HSAN type 2 is caused by mutations in the WNK1 gene and inheritance is autosomal recessive . HSAN type 3 (Riley-Day syndrome or familial dysautonomia) is caused by mutations in the IKBKAP gene and inheritance is autosomal recessive. HSAN type 4, also called congenital insensitivity to pain with anhidrosis (CIPA), is caused by mutations in the NTRK1 gene and is an autosomal recessive disorder. HSAN type 5 is caused by mutations in the NGFB gene and inherited in an autosomal recessive manner. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-aminobutyric 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	Hereditary sensory and autonomic neuropathy	c0027889	26,438	gard	https://rarediseases.info.nih.gov/diseases/12688/hereditary-sensory-and-autonomic-neuropathy	2021-01-18T18:00:01	{"mesh": ["D009477"], "orphanet": ["140471"], "synonyms": ["Hereditary sensory autonomic neuropathy", "HSAN"]}
A number sign (#) is used with this entry because multiple exostoses type II (EXT2) is caused by heterozygous mutation in the gene encoding exostosin-2 (EXT2; 608210) on chromosome 11p11. Description Hereditary multiple exostoses is an autosomal dominant disorder characterized by multiple exostoses most commonly arising from the juxtaepiphyseal region of the long bones. For a general phenotypic description and a discussion of genetic heterogeneity of multiple exostoses, see EXT1 (133700). Mapping Cook et al. (1993) concluded that about 70% of multiple exostoses families show linkage to markers in the 8q24.11-q24.13 region (EXT1). Multiple exostoses in the other families appears to be caused by a mutation at another locus, unlinked to markers in that region. Investigating 2 large exostoses pedigrees in which linkage to markers from 8q24 was excluded, Wu et al. (1994) found evidence of linkage to microsatellite markers from the proximal short and long arms of chromosome 11. The highest lod score by 2-point analysis was found with D11S554; maximum lod = 7.148 at theta = 0.03. Hecht et al. (1995) reported a large multigenerational family with multiple exostosis who demonstrated linkage of the disease to chromosome 11 markers. One family member had a chondrosarcoma. Constitutional and tumor DNAs from the family member with chondrosarcoma were compared using short tandem repeat (STR) markers from chromosomes 8, 11, and 19. Loss of heterozygosity (LOH) in the tumor was observed for chromosome 8 and 11 markers, but chromosome 19 markers were intact. Hecht et al. (1995) observed an apparent deletion of D11S903 in constitutional DNA from all affected individuals and in the tumor sample. These results indicated that the EXT2 gene maps to the region containing D11S903, which is flanked by D11S1355 and D11S1361. Studying 7 extended multiple exostoses families, all linked to the EXT2 locus, Wuyts et al. (1995) refined the localization of the EXT2 gene to a 3-cM region flanked by D11S1355 and D11S1361/D11S554. The findings indicated that the EXT2 gene is located on 11p12-p11. The refined localization excluded a number of putative candidate genes located in the pericentromeric region of chromosome 11. Blanton et al. (1996) studied 12 large multigenerational EXT families and found that the disorder mapped to 8q24 in 6 and to 11p in 6. The authors noted that the 2 sets of families were clinically indistinguishable. None of the families mapped to the chromosome 19 locus. McGaughran et al. (1995) described a patient with the combination of multiple exostoses and the WAGR syndrome (Wilms tumor, aniridia, genital anomalies, and mental retardation; 194070), a well-documented contiguous gene syndrome resulting from deletion of 11p13. Their patient showed a del(11)(p14.2p11.2). As pointed out by Potocki et al. (1995), the description of the contiguous gene syndrome resulting from interstitial deletion of 11p, del(11)(p12p11.2), including multiple exostoses as a feature, provided confirmation of the mapping of EXT2. Other features of this contiguous gene syndrome are mental retardation and parietal foramina, known as Catlin marks (168500). Potocki and Shaffer (1996) reported the clinical and molecular findings in another patient with an 11(p12p11.2) deletion. Cytogenetic and molecular analysis demonstrated a de novo, paternally-derived deletion for markers known to be tightly linked to EXT2. The patient had an unusual facies (bilateral epicanthal folds, ptosis, short philtrum, and downturned upper lip), mental retardation, multiple exostoses, brachycephaly, and bilateral parietal foramina. Molecular Genetics In a family with multiple exostoses, Stickens et al. (1996) identified a 4-bp deletion in the EXT2 gene (608210.0001), resulting in a premature stop codon and truncated gene product. Stickens et al. (1996) speculated that a second mutation event was necessary for the development of exostoses, thus accounting for the asymmetry of exostoses observed in the long bones. In 2 families with multiple exostoses, Wuyts et al. (1996) identified 2 different mutations in the EXT2 gene: a nonsense mutation (608210.0002) and a splice site mutation (608210.0003). In 5 of 17 (29%) families with hereditary multiple exostoses, Philippe et al. (1997) identified 4 mutations in the EXT2 gene, including a missense mutation (608210.0004) and 3 alterations that resulted in premature stop codons. Seven (41%) of the families had mutations in the EXT1 gene. Of 26 EXT families originating from 9 countries, Wuyts et al. (1998) found that 10 families had an EXT1 mutation and 10 had an EXT2 mutation. Twelve of these mutations had not previously been described. From a review of these and previously reported mutations, Wuyts et al. (1998) concluded that mutations in either the EXT1 or the EXT2 gene are responsible for most cases of multiple exostoses. Most of the mutations in these 2 genes cause premature termination of the EXT proteins, whereas missense mutations are rare. The authors concluded that the development of exostoses is mainly due to loss of function of EXT genes, consistent with the hypothesis that the EXT genes have a tumor suppressor function. Wuyts and Van Hul (2000) stated that 49 different EXT1 and 25 different EXT2 mutations had been identified in patients with multiple exostoses, and that mutations in these 2 genes were responsible for over 70% of the EXT cases. Genotype/Phenotype Correlations Francannet et al. (2001) identified mutations in 36 of the 38 families linked to EXT1 or EXT2. No mutations were found in 2 EXT1-linked families. Nine of the mutations occurred in the EXT2 gene. A severe phenotype ('S') was shown to be significantly associated with EXT1 mutations, whereas a moderate phenotype ('M') was associated with EXT2 mutations. One subgroup of the S phenotype, IS (10 to 25 exostoses, no vertebral exostoses, height below the 10th centile), was associated with mutations in EXT1 or EXT2. Mutations associated with another S subgroup, IVS (very short stature), were located in exon 1 of EXT1. Chondrosarcomas were found only in patients with EXT1 mutations. In 7 patients with EXT1 mutations and 16 patients with EXT2 mutations, Alvarez et al. (2006) analyzed the anatomic burden of disease by clinical and radiographic examination and evaluation of 76 phenotypic parameters. Patients with EXT1 mutation were found to have more exostoses, more limb malalignment with shorter limb segments and height, and more pelvic and flatbone involvement. Heinritz et al. (2009) identified 9 different mutations in the EXT2 gene in 11 of 23 German patients with multiple exostoses. Eleven other patients had mutations in the EXT1 gene; 1 patient had no detectable mutations. Among the EXT2 mutations, there were 3 recurrent mutations, Q172X (608210.0002), D227N (608210.0004), and Q258X (608210.0006), and 6 novel mutations (see, e.g., 608210.0007). Multiple splice site defects were identified. Although clinical details were limited, those with EXT1 mutations tended to have a more severe phenotype. INHERITANCE \- Autosomal dominant GROWTH Height \- Short stature in less than 50% CHEST Ribs Sternum Clavicles & Scapulae \- Rib exostoses \- Scapular exostoses SKELETAL Pelvis \- Coxa vara \- Pelvic exostoses Limbs \- Protuberances at ends of long bones \- Short metacarpal \- Exostoses in juxtaepiphyseal regions of the long bones \- Genu valgum \- Madelung-like forearm deformities NEUROLOGIC Peripheral Nervous System \- Peripheral nerve compression \- Cervical myelopathy NEOPLASIA \- Increased risk of chondrosarcoma MISCELLANEOUS \- More severe in males than in females \- Onset early childhood \- Lesions continue to grow until epiphyseal plate closure MOLECULAR BASIS \- Caused by mutations in the exostosin 2 gene (EXT2, 133701.0001 ) ▲ 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-aminobutyric 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	EXOSTOSES, MULTIPLE, TYPE II	c0206641	26,439	omim	https://www.omim.org/entry/133701	2019-09-22T16:41:18	{"doid": ["206"], "mesh": ["D018216"], "omim": ["133701"], "orphanet": ["321"], "genereviews": ["NBK1235"]}
In a 12-year-old boy whose parents had immigrated to Australia from Lebanon, Rutland and de Iongh (1990) described a history of pulmonary problems dating from the first weeks of life. With quantitative methods for measuring ciliary orientation (de Iongh and Rutland, 1989), they showed that the orientation of the cilia was random as compared to parallel in patients with recurrent respiratory tract infections and in normal subjects. Rutland and de Iongh (1990) considered the orientation to be a primary defect. They suggested that this patient might be fertile since the orientation of sperm tails in relation to each other would not be expected to have an effect on fertility. They pointed out that normal ciliary ultrastructure has been reported in patients with Kartagener syndrome (Herzon and Murphy, 1980; Greenstone et al., 1983) and they suggested that random ciliary orientation could be the defect in some of these patients. Parental consanguinity was not commented on; there were no indications of abnormalities in the parents or sibs. Respiratory \- Recurrent infections Lab \- Random ciliary orientation 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-aminobutyric 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	CILIARY DISCOORDINATION DUE TO RANDOM CILIARY ORIENTATION	c0022521	26,440	omim	https://www.omim.org/entry/215518	2019-09-22T16:29:34	{"mesh": ["D007619"], "omim": ["244400", "215518"], "orphanet": ["244"], "synonyms": ["Alternative titles", "PCD", "RUTLAND CILIARY DISORIENTATION SYNDROME"]}
Blistering autoimmune diseases This article is about a skin blistering disease. For another similar-looking blistering skin disease, see Pemphigoid. Pemphigus Permphigus, from 1886 medical book SpecialtyDermatology Microscopic image of direct immunofluorescence using an anti-IgG antibody. The tissue is skin from a patient with Pemphigus vulgaris. Note the intercellular IgG deposits in the epidermis and the early intraepidermal vesicle caused by acantholysis. Pemphigus (/ˈpɛmfɪɡəs/ or /pɛmˈfaɪɡəs/) is a rare group of blistering autoimmune diseases that affect the skin and mucous membranes.[1] The name is derived from the Greek root "pemphix", meaning "pustule".[2] In pemphigus, autoantibodies form against desmoglein. Desmoglein forms the "glue" that attaches adjacent epidermal cells via attachment points called desmosomes. When autoantibodies attack desmogleins, the cells become separated from each other and the epidermis becomes detached, a phenomenon called acantholysis. This causes blisters that slough off and turn into sores. In some cases, these blisters can cover a significant area of the skin.[3] Originally, the cause of this disease was unknown, and "pemphigus" was used to refer to any blistering disease of the skin and mucosa. In 1964, researchers found that the blood of patients with pemphigus contained antibodies to the layers of skin that separate to form the blisters.[4][5] In 1971, an article investigating the autoimmune nature of this disease was published.[6][7] ## Contents * 1 Types * 2 Diagnosis * 2.1 Classification * 3 Treatment * 3.1 Treatment options * 4 Animals affected * 5 See also * 6 Footnotes * 7 External links ## Types[edit] There are several types of pemphigus which vary in severity: pemphigus vulgaris, pemphigus foliaceus, Intraepidermal neutrophilic IgA dermatosis, and paraneoplastic pemphigus. Skin lesions caused by pemphigus can lead to fatal infections, so treatment is extremely important. * Pemphigus vulgaris (PV - ICD-10 L10.0) is the most common form of the disorder and occurs when antibodies attack Desmoglein 3. Sores often originate in the mouth, making eating difficult and uncomfortable. Although pemphigus vulgaris may occur at any age, it is most common among people between the ages of 40 and 60. It is more frequent among Ashkenazi Jews. Rarely, it is associated with myasthenia gravis. Nail disease may be the only finding and has prognostic value in management.[citation needed] [8] * Pemphigus foliaceus (PF) is the least severe of the three varieties. Desmoglein 1, the protein that is targeted by the autoantibody, is enriched in the upper skin layers. PF is characterized by crusty sores that often begin on the scalp, and may move to the chest, back, and face. Mouth sores do not occur. This form is also frequent among Ashkenazi Jews. It is not as painful as pemphigus vulgaris, and is often mis-diagnosed as dermatitis or eczema [9] * Intraepidermal neutrophilic IgA dermatosis is characterized histologically by intraepidermal bullae with neutrophils, some eosinophils, and acantholysis.[10] * The least common and most severe type of pemphigus is paraneoplastic pemphigus (PNP). This disorder is a complication of cancer, usually lymphoma and Castleman's disease. It may precede the diagnosis of the tumor. Painful sores appear on the mouth, lips, and the esophagus. In this variety of pemphigus, the disease process often involves the lungs, causing bronchiolitis obliterans (constrictive bronchiolitis). Though much less frequent, it is still found the most in the Ashkenazi Jewish population. Complete removal of and/or cure of the tumor may improve the skin disease, but lung damage is generally irreversible. * Endemic pemphigus foliaceus, including the Fogo Selvagem, the new variant of endemic pemphigus folaiceus in El Bagre, Colombia, South America, and the Tunisian endemic pemphigus in North Africa.[11] Hailey-Hailey disease, also called familial benign pemphigus, is an inherited skin disease, not an autoimmune disease. It is therefore not considered part of the Pemphigus group of diseases.[12] ## Diagnosis[edit] Pemphigus defines a group of autoimmune interepithelial blistering diseases that are characterized by loss of normal cell-cell adhesion (acantholysis), and by the presence of pathogenic (predominantly IgG) autoantibodies reacting against epithelial adhesion molecules.[13] Pemphigus is further divided in two major subtypes: pemphigus vulgaris (PV) and pemphigus foliaceus (PF). However, several other disorders such as IgA pemphigus, IgE pemphigus, pemphigus herpetiformis, drug induced pemphigus, Senear Usher syndrome and endemic pemphigus foliaceus exist; recognized by a dermatologist from the appearance and distribution of the skin lesions. It is also commonly diagnosed by specialists practicing otolaryngology- head and neck surgery, periodontists, oral and maxillofacial surgeons and eye doctors, as lesions can affect the eyes and mucous membrane of the oral cavity. Intraorally it resembles the more common diseases lichen planus and mucous membrane pemphigoid.[14] Definitive diagnosis requires examination of a skin or mucous membrane biopsy by a dermatopathologist or oral pathologist. The skin biopsy is taken from the edge of a blister, prepared for histopathology and examined with a microscope. The pathologist looks for an intraepidermal vesicle caused by the breaking apart of epidermal cells (acantholysis). Thus, the superficial (upper) portion of the epidermis sloughs off, leaving the bottom layer of cells on the "floor" of the blister. This bottom layer of cells is said to have a "tombstone appearance." Definitive diagnosis also requires the demonstration of anti-desmoglein autoantibodies by direct immunofluorescence on the skin biopsy. These antibodies appear as IgG deposits along the desmosomes between epidermal cells, a pattern reminiscent of chicken wire. Anti-desmoglein antibodies can also be detected in a blood sample using the ELISA technique. ### Classification[edit] Pemphigus is a group of autoimmune blistering diseases that may be classified into the following types:[15] * Pemphigus vulgaris * Pemphigus vegetans * Pemphigus vegetans of Hallopeau * Pemphigus vegetans of Neumann * Pemphigus foliaceus, of which there several forms: * Pemphigus erythematosus or Senear–Usher Syndrome * Endemic pemphigus foliaceus with its three variants, Fogo Selvagem, the new variant endemic pemphigus Foliaeus and Tunisian endemic pemphigus foliaceus * Paraneoplastic pemphigus * IgA pemphigus, of which there several forms: * Subcorneal pustular dermatosis * Intraepidermal neutrophilic IgA dermatosis * Drug induced pemphigus ## Treatment[edit] If not treated, pemphigus can be fatal, usually from overwhelming opportunistic infection of lesions. The most common treatment is the administration of oral steroids, especially prednisone, often in high doses. The side effects of corticosteroids may require the use of so-called steroid-sparing or adjuvant drugs. One of the most dangerous side effects of high-dosage steroid treatments is intestinal perforations,[citation needed] which may lead to sepsis. Steroids and other medications being taken to treat pemphigus may also mask the effects of the perforations. Patients on high dosages of oral steroids should closely monitor their gastrointestinal health. As lesions are usually terribly painful, it is likely that pain medication[16] can complicate and exacerbate the gastrointestinal issues caused by steroids. ### Treatment options[edit] * topical steroids, such as clobetasol * intralesional injection of steroids, such as dexamethasone * immunosuppressant drugs, such as CellCept (mycophenolic acid)[17] * serum or plasma pooled products, like Intravenous gamma globulin (IVIG) may be useful in severe cases, especially paraneoplastic pemphigus * biologics such as Rituximab, an anti-CD20 antibody, which was found to improve otherwise severe cases of recalcitrant Pemphigus vulgaris.[18][19] All of these drugs may cause severe side effects, so the patient should be closely monitored by doctors. Once the outbreaks are under control, dosage is often reduced, to lessen side effects. A meta-analysis of the literature found insufficient evidence to determine the optimal treatment regimen for treating pemphigus vulgaris and pemphigus foliaceus. However, it found that adding cyclophosphamid and azathioprine to a glucocorticoid regimen reduced the amount of glucocorticoid needed to treat, and topical epidermal growth factor significantly reduced lesion healing time.[20] If skin lesions do become infected, antibiotics may be prescribed. Tetracycline antibiotics have a mildly beneficial effect on the disease and are sometimes enough for Pemphigus Foliaceus. In addition, talcum powder is helpful to prevent oozing sores from adhering to bedsheets and clothes. Wound care and treatment is often akin to that used in burn units, including careful use of dressings that don't stick to the wounds, etc. If paraneoplastic pemphigus is diagnosed with pulmonary disease, a powerful cocktail of immune suppressant drugs is sometimes used in an attempt to halt the rapid progression of bronchiolitis obliterans, including methylprednisolone, ciclosporin, azathioprine, and thalidomide. Plasmapheresis may also be useful. ## Animals affected[edit] Pemphigus foliaceus skin eruption on the abdomen of a dog Pemphigus foliaceus has been recognized in pet dogs, cats, and horses and is the most common autoimmune skin disease diagnosed in veterinary medicine. Pemphigus foliaceus in animals produces clusters of small vesicles that quickly evolve into pustules. Pustules may rupture, forming erosions or become crusted. Left untreated, pemphigus foliaceus in animals is life-threatening, leading to not only loss of condition but also secondary infection. Pemphigus vulgaris is a very rare disorder described in pet dogs and cats. Paraneoplastic pemphigus has been identified in pet dogs. ## See also[edit] * Hailey-Hailey disease (familial benign pemphigus) * List of conditions caused by problems with junctional proteins * List of cutaneous conditions * List of immunofluorescence findings for autoimmune bullous conditions * List of target antigens in pemphigus * Pemphigoid * Pemphigus herpetiformis ## Footnotes[edit] 1. ^ Yeh SW, Ahmed B, Sami N, Ahmed AR (2003). "Blistering disorders: diagnosis and treatment". Dermatologic Therapy. 16 (3): 214–23. doi:10.1046/j.1529-8019.2003.01631.x. PMID 14510878. 2. ^ "Definition of PEMPHIGUS". www.merriam-webster.com. Retrieved 2017-03-11. 3. ^ International Pemphigus & Pemphigoid Foundation: What is Pemphigus? 4. ^ Beutner, EH; Jordon, RE (November 1964). "Demonstration of skin antibodies in sera of pemphigus vulgaris patients by indirect immunofluorescent staining". Proc. Soc. Exp. Biol. Med. 117 (2): 505–510. doi:10.3181/00379727-117-29622. PMID 14233481. S2CID 9443044. 5. ^ "Dermatology Foundation: BEUTNER, JORDAN SHARE 2000 DERMATOLOGY FOUNDATION DISCOVERY AWARD". Archived from the original on 2008-05-18. Retrieved 2009-01-31. 6. ^ Jordon, Robert E.; Sams, Jr., W. Mitchell; Diaz, Gustavo; Beutner, Ernst H. (1971). "Negative Complement Immunofluorescence in Pemphigus". Journal of Investigative Dermatology. 57 (6): 407–410. doi:10.1111/1523-1747.ep12293273. PMID 4108416. 7. ^ Serratos, BD; Rashid, RM (Jul 15, 2009). "Nail disease in pemphigus vulgaris". Dermatology Online Journal. 15 (7): 2. PMID 19903430. 8. ^ Abreu-Velez AM, Calle-Isaza J, Howard MS. Autoimmune epidermal blistering diseases. Our Dermatol Online. 2013;4(Suppl.3):631-646 9. ^ Abreu Velez AM, Calle-Isaza J, Howard MS. Autoimmune epidermal blistering diseases. Our Dermatol Online. 2013;4(Suppl.3):631-646. DOI: 10.7241/ourd.20134.158 10. ^ Abreu Velez AM, Calle-Isaza J, Howard MS. Autoimmune epidermal blistering diseases. Our Dermatol Online. 2013; 4(Suppl.3): 631-646. DOI: 10.7241/ourd.20134.158 11. ^ 1\. Abréu Vélez AM, Hashimoto T, Tobón S, Londoño ML, Montoya F, Bollag, WB, Beutner, E., is a unique form of endemic pemphigus in Northern Colombia. J Am Acad Dermatol. Oct(49),4:609-614,2003 12. ^ "Hailey Hailey Disease Society". Archived from the original on 2012-10-14. Retrieved 2008-03-04. 13. ^ 16\. Abreu Velez AM, Calle-Isaza J, Howard MS. Autoimmune epidermal blistering diseases. Our Dermatol Online. 2013; 4(Suppl.3): 631-646. DOI: 10.7241/ourd.20134.158 14. ^ Sapp, J. Philip; Eversole, Lewis R.; Wysocki, George P. (1997). Contemporary Oral and Maxillofacial Pathology. Mosby. ISBN 978-0-8016-6918-7.also here 15. ^ Stanley, John R. (2003). "Chapter 59: Pemphigus". In Freedberg; et al. (eds.). Fitzpatrick's Dermatology in General Medicine (6th ed.). McGraw-Hill. p. 559. ISBN 0-07-138067-1. 16. ^ Rashid, RM; Candido, KD (Oct 2008). "Pemphigus pain: a review on management". The Clinical Journal of Pain. 24 (8): 734–5. doi:10.1097/AJP.0b013e31817af6fc. PMID 18806540. S2CID 21201391. 17. ^ In recent years, adjuvant drugs, especially biologics, have shown great promise. British Association of Dermtologists, Steroid sparing (or adjuvant) drugs Archived 2008-09-18 at the Wayback Machine 18. ^ Ahmed AR, Spigelman Z, Cavacini LA, Posner MR (2006). "Treatment of pemphigus vulgaris with rituximab and intravenous immune globulin". N. Engl. J. Med. 355 (17): 1772–9. doi:10.1056/NEJMoa062930. PMID 17065638. 19. ^ Joly P, Mouquet H, Roujeau JC, et al. (2007). "A single cycle of rituximab for the treatment of severe pemphigus". N. Engl. J. Med. 357 (6): 545–52. doi:10.1056/NEJMoa067752. PMID 17687130. 20. ^ Martin, Linda K; Agero, Anna Liza; Werth, Victoria; Villanueva, Elmer; Segall, Janet; Murrell, Dedee F (2009-01-21). "Interventions for pemphigus vulgaris and pemphigus foliaceus". Cochrane Database of Systematic Reviews (1): CD006263. doi:10.1002/14651858.CD006263.pub2. ISSN 1465-1858. PMID 19160272. ## External links[edit] Classification D * ICD-10: L10 * ICD-9-CM: 694.4 * OMIM: 169600 Benign Chronic ~ 169610 ~ Vulgaris, Familial * MeSH: D010392 * DiseasesDB: 9764 External resources * MedlinePlus: 000882 * eMedicine: derm/317 derm/318 ~ foliaceus derm/314 Drug-induced ~ derm/543 ~ herpetiformis derm/315 ~ IgA derm/319 ~ Vulgaris derm/535 ~Paraneoplastic derm/150 Benign ~ (Hailey-Hailey Disease) * Patient UK: Pemphigus * National Organization of Rare Diseases: Pemphigus * v * t * e Vesiculobullous disease Acantholysis (epidermis) Pemphigus * Pemphigus vulgaris: Pemphigus vegetans * of Hallopeau * of Neumann * Pemphigus foliaceus: Pemphigus erythematosus * Endemic pemphigus * Paraneoplastic pemphigus * IgA pemphigus * Subcorneal pustular * Intraepidermal neutrophilic Other * Transient acantholytic dermatosis Pemphigoid (dermis) IgG: * Bullous pemphigoid * Cicatricial pemphigoid * Localised * Gestational pemphigoid * Pemphigoid nodularis * Epidermolysis bullosa acquisita IgA: * Linear IgA bullous dermatosis * Childhood * Adult Other bullous * Dermatitis herpetiformis In diseases classified elsewhere * Porphyria cutanea tarda * Bullous lupus erythematosus * PUVA-induced acrobullous dermatosis * v * t * e Diseases of the skin and appendages by morphology Growths Epidermal * Wart * Callus * Seborrheic keratosis * Acrochordon * Molluscum contagiosum * Actinic keratosis * Squamous-cell carcinoma * Basal-cell carcinoma * Merkel-cell carcinoma * Nevus sebaceous * Trichoepithelioma Pigmented * Freckles * Lentigo * Melasma * Nevus * Melanoma Dermal and subcutaneous * Epidermal inclusion cyst * Hemangioma * Dermatofibroma (benign fibrous histiocytoma) * Keloid * Lipoma * Neurofibroma * Xanthoma * Kaposi's sarcoma * Infantile digital fibromatosis * Granular cell tumor * Leiomyoma * Lymphangioma circumscriptum * Myxoid cyst Rashes With epidermal involvement Eczematous * Contact dermatitis * Atopic dermatitis * Seborrheic dermatitis * Stasis dermatitis * Lichen simplex chronicus * Darier's disease * Glucagonoma syndrome * Langerhans cell histiocytosis * Lichen sclerosus * Pemphigus foliaceus * Wiskott–Aldrich syndrome * Zinc deficiency Scaling * Psoriasis * Tinea (Corporis * Cruris * Pedis * Manuum * Faciei) * Pityriasis rosea * Secondary syphilis * Mycosis fungoides * Systemic lupus erythematosus * Pityriasis rubra pilaris * Parapsoriasis * Ichthyosis Blistering * Herpes simplex * Herpes zoster * Varicella * Bullous impetigo * Acute contact dermatitis * Pemphigus vulgaris * Bullous pemphigoid * Dermatitis herpetiformis * Porphyria cutanea tarda * Epidermolysis bullosa simplex Papular * Scabies * Insect bite reactions * Lichen planus * Miliaria * Keratosis pilaris * Lichen spinulosus * Transient acantholytic dermatosis * Lichen nitidus * Pityriasis lichenoides et varioliformis acuta Pustular * Acne vulgaris * Acne rosacea * Folliculitis * Impetigo * Candidiasis * Gonococcemia * Dermatophyte * Coccidioidomycosis * Subcorneal pustular dermatosis Hypopigmented * Tinea versicolor * Vitiligo * Pityriasis alba * Postinflammatory hyperpigmentation * Tuberous sclerosis * Idiopathic guttate hypomelanosis * Leprosy * Hypopigmented mycosis fungoides Without epidermal involvement Red Blanchable Erythema Generalized * Drug eruptions * Viral exanthems * Toxic erythema * Systemic lupus erythematosus Localized * Cellulitis * Abscess * Boil * Erythema nodosum * Carcinoid syndrome * Fixed drug eruption Specialized * Urticaria * Erythema (Multiforme * Migrans * Gyratum repens * Annulare centrifugum * Ab igne) Nonblanchable Purpura Macular * Thrombocytopenic purpura * Actinic/solar purpura Papular * Disseminated intravascular coagulation * Vasculitis Indurated * Scleroderma/morphea * Granuloma annulare * Lichen sclerosis et atrophicus * Necrobiosis lipoidica Miscellaneous disorders Ulcers * Hair * Telogen effluvium * Androgenic alopecia * Alopecia areata * Systemic lupus erythematosus * Tinea capitis * Loose anagen syndrome * Lichen planopilaris * Folliculitis decalvans * Acne keloidalis nuchae Nail * Onychomycosis * Psoriasis * Paronychia * Ingrown nail Mucous membrane * Aphthous stomatitis * Oral candidiasis * Lichen planus * Leukoplakia * Pemphigus vulgaris * Mucous membrane pemphigoid * Cicatricial pemphigoid * Herpesvirus * Coxsackievirus * Syphilis * Systemic histoplasmosis * Squamous-cell carcinoma * v * t * e Oral and maxillofacial pathology Lips * Cheilitis * Actinic * Angular * Plasma cell * Cleft lip * Congenital lip pit * Eclabium * Herpes labialis * Macrocheilia * Microcheilia * Nasolabial cyst * Sun poisoning * Trumpeter's wart Tongue * Ankyloglossia * Black hairy tongue * Caviar tongue * Crenated tongue * Cunnilingus tongue * Fissured tongue * Foliate papillitis * Glossitis * Geographic tongue * Median rhomboid glossitis * Transient lingual papillitis * Glossoptosis * Hypoglossia * Lingual thyroid * Macroglossia * Microglossia * Rhabdomyoma Palate * Bednar's aphthae * Cleft palate * High-arched palate * Palatal cysts of the newborn * Inflammatory papillary hyperplasia * Stomatitis nicotina * Torus palatinus Oral mucosa – Lining of mouth * Amalgam tattoo * Angina bullosa haemorrhagica * Behçet's disease * Bohn's nodules * Burning mouth syndrome * Candidiasis * Condyloma acuminatum * Darier's disease * Epulis fissuratum * Erythema multiforme * Erythroplakia * Fibroma * Giant-cell * Focal epithelial hyperplasia * Fordyce spots * Hairy leukoplakia * Hand, foot and mouth disease * Hereditary benign intraepithelial dyskeratosis * Herpangina * Herpes zoster * Intraoral dental sinus * Leukoedema * Leukoplakia * Lichen planus * Linea alba * Lupus erythematosus * Melanocytic nevus * Melanocytic oral lesion * Molluscum contagiosum * Morsicatio buccarum * Oral cancer * Benign: Squamous cell papilloma * Keratoacanthoma * Malignant: Adenosquamous carcinoma * Basaloid squamous carcinoma * Mucosal melanoma * Spindle cell carcinoma * Squamous cell carcinoma * Verrucous carcinoma * Oral florid papillomatosis * Oral melanosis * Smoker's melanosis * Pemphigoid * Benign mucous membrane * Pemphigus * Plasmoacanthoma * Stomatitis * Aphthous * Denture-related * Herpetic * Smokeless tobacco keratosis * Submucous fibrosis * Ulceration * Riga–Fede disease * Verruca vulgaris * Verruciform xanthoma * White sponge nevus Teeth (pulp, dentin, enamel) * Amelogenesis imperfecta * Ankylosis * Anodontia * Caries * Early childhood caries * Concrescence * Failure of eruption of teeth * Dens evaginatus * Talon cusp * Dentin dysplasia * Dentin hypersensitivity * Dentinogenesis imperfecta * Dilaceration * Discoloration * Ectopic enamel * Enamel hypocalcification * Enamel hypoplasia * Turner's hypoplasia * Enamel pearl * Fluorosis * Fusion * Gemination * Hyperdontia * Hypodontia * Maxillary lateral incisor agenesis * Impaction * Wisdom tooth impaction * Macrodontia * Meth mouth * Microdontia * Odontogenic tumors * Keratocystic odontogenic tumour * Odontoma * Dens in dente * Open contact * Premature eruption * Neonatal teeth * Pulp calcification * Pulp stone * Pulp canal obliteration * Pulp necrosis * Pulp polyp * Pulpitis * Regional odontodysplasia * Resorption * Shovel-shaped incisors * Supernumerary root * Taurodontism * Trauma * Avulsion * Cracked tooth syndrome * Vertical root fracture * Occlusal * Tooth loss * Edentulism * Tooth wear * Abrasion * Abfraction * Acid erosion * Attrition Periodontium (gingiva, periodontal ligament, cementum, alveolus) – Gums and tooth-supporting structures * Cementicle * Cementoblastoma * Gigantiform * Cementoma * Eruption cyst * Epulis * Pyogenic granuloma * Congenital epulis * Gingival enlargement * Gingival cyst of the adult * Gingival cyst of the newborn * Gingivitis * Desquamative * Granulomatous * Plasma cell * Hereditary gingival fibromatosis * Hypercementosis * Hypocementosis * Linear gingival erythema * Necrotizing periodontal diseases * Acute necrotizing ulcerative gingivitis * Pericoronitis * Peri-implantitis * Periodontal abscess * Periodontal trauma * Periodontitis * Aggressive * As a manifestation of systemic disease * Chronic * Perio-endo lesion * Teething Periapical, mandibular and maxillary hard tissues – Bones of jaws * Agnathia * Alveolar osteitis * Buccal exostosis * Cherubism * Idiopathic osteosclerosis * Mandibular fracture * Microgenia * Micrognathia * Intraosseous cysts * Odontogenic: periapical * Dentigerous * Buccal bifurcation * Lateral periodontal * Globulomaxillary * Calcifying odontogenic * Glandular odontogenic * Non-odontogenic: Nasopalatine duct * Median mandibular * Median palatal * Traumatic bone * Osteoma * Osteomyelitis * Osteonecrosis * Bisphosphonate-associated * Neuralgia-inducing cavitational osteonecrosis * Osteoradionecrosis * Osteoporotic bone marrow defect * Paget's disease of bone * Periapical abscess * Phoenix abscess * Periapical periodontitis * Stafne defect * Torus mandibularis Temporomandibular joints, muscles of mastication and malocclusions – Jaw joints, chewing muscles and bite abnormalities * Bruxism * Condylar resorption * Mandibular dislocation * Malocclusion * Crossbite * Open bite * Overbite * Overeruption * Overjet * Prognathia * Retrognathia * Scissor bite * Maxillary hypoplasia * Temporomandibular joint dysfunction Salivary glands * Benign lymphoepithelial lesion * Ectopic salivary gland tissue * Frey's syndrome * HIV salivary gland disease * Necrotizing sialometaplasia * Mucocele * Ranula * Pneumoparotitis * Salivary duct stricture * Salivary gland aplasia * Salivary gland atresia * Salivary gland diverticulum * Salivary gland fistula * Salivary gland hyperplasia * Salivary gland hypoplasia * Salivary gland neoplasms * Benign: Basal cell adenoma * Canalicular adenoma * Ductal papilloma * Monomorphic adenoma * Myoepithelioma * Oncocytoma * Papillary cystadenoma lymphomatosum * Pleomorphic adenoma * Sebaceous adenoma * Malignant: Acinic cell carcinoma * Adenocarcinoma * Adenoid cystic carcinoma * Carcinoma ex pleomorphic adenoma * Lymphoma * Mucoepidermoid carcinoma * Sclerosing polycystic adenosis * Sialadenitis * Parotitis * Chronic sclerosing sialadenitis * Sialectasis * Sialocele * Sialodochitis * Sialosis * Sialolithiasis * Sjögren's syndrome Orofacial soft tissues – Soft tissues around the mouth * Actinomycosis * Angioedema * Basal cell carcinoma * Cutaneous sinus of dental origin * Cystic hygroma * Gnathophyma * Ludwig's angina * Macrostomia * Melkersson–Rosenthal syndrome * Microstomia * Noma * Oral Crohn's disease * Orofacial granulomatosis * Perioral dermatitis * Pyostomatitis vegetans Other * Eagle syndrome * Hemifacial hypertrophy * Facial hemiatrophy * Oral manifestations of systemic disease [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-aminobutyric 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	Pemphigus	c0030807	26,441	wikipedia	https://en.wikipedia.org/wiki/Pemphigus	2021-01-18T18:31:38	{"gard": ["7352"], "mesh": ["D010392"], "umls": ["C0030807"], "wikidata": ["Q1483214"]}
## Description The odontoid process, or dens, is a bony projection from the axis (C2) upward into the ring of the atlas (C1) at the top of the spine. During embryogenesis, the body of the odontoid derives from the centrum of the atlas and separates from the atlas, fusing with the superior portion of the axis. If the odontoid is hypoplastic or absent, the attachments for the apical and alar ligaments are missing, allowing for excessive rotation of the atlas, craniocervical instability, and possibly cord compression (summary by Stevens et al., 2009). Clinical Features Stevens et al. (2009) reported a 3-generation family in which 4 individuals had odontoid hypoplasia. The proband was a 16-year old girl who had dislocation of the hips as an infant and mild limitation of elbow supination. Cervical radiographs showed odontoid hypoplasia with 8-mm C1-C2 instability, and MRI showed a small, blunted odontoid and articulation of a dystopic os odontoideum with the skull base. There was craniocervical instability and kinking of the medulla. Other radiographic studies showed bilateral radial head abnormalities and short metacarpals, particularly the fifth. The proband was asymptomatic but evaluated due to a positive family history. Her mother had similar radiographic studies with 9-mm cervical spine mobility, and was diagnosed at age 5 years. She first experienced severe cervical pain radiating to the extremities after diving at a whitewater park at age 36 years. She underwent fusion of C1-C2 at age 39, and has remained neurologically asymptomatic. A maternal uncle of the proband was briefly paralyzed after head-first diving at age 12. He underwent C1-C2 fusion and has remained asymptomatic. The maternal grandfather was also affected, and underwent fusion of C1-C2. He had progressive neurologic symptoms and underwent additional surgery for occipital to C4 fusion. He has quadriparesis, more severe in the upper extremities, and is not able to walk or stand. Stevens et al. (2009) noted that most individuals with this finding are asymptomatic and may only experience problems after trauma. Inheritance The presence of odontoid hypoplasia in the family reported by Stevens et al. (2009) was consistent with autosomal dominant transmission. Stevens et al. (2009) referred to an earlier report of a family with autosomal dominant transmission of odontoid hypoplasia (Shepard, 1966), suggesting a genetic etiology. INHERITANCE \- Autosomal dominant HEAD & NECK Neck \- Cervical instability SKELETAL Spine \- Odontoid (dens) hypoplasia \- Dystopic os odontoideum \- Excessive rotation of the axis (C2) \- Atlantoaxial instability \- Craniocervical instability NEUROLOGIC Central Nervous System \- Secondary spinal cord compression may occur MISCELLANEOUS \- Most individuals are asymptomatic \- Neurologic symptoms may occur after trauma ▲ 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-aminobutyric 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	ODONTOID HYPOPLASIA	c1846439	26,442	omim	https://www.omim.org/entry/613628	2019-09-22T15:58:05	{"omim": ["613628"]}
This article may be too technical for most readers to understand. Please help improve it to make it understandable to non-experts, without removing the technical details. (June 2009) (Learn how and when to remove this template message) Familial amyloid neuropathy SpecialtyEndocrinology The familial amyloid neuropathies (or familial amyloidotic neuropathies, neuropathic heredofamilial amyloidosis, familial amyloid polyneuropathy) are a rare group of autosomal dominant diseases wherein the autonomic nervous system and/or other nerves are compromised by protein aggregation and/or amyloid fibril formation.[1][2][3] ## Contents * 1 Classification * 2 Treatment * 3 References * 4 External links ## Classification[edit] The aggregation of one precursor protein leads to peripheral neuropathy and/or autonomic nervous system dysfunction. These proteins include: transthyretin (ATTR, the most commonly implicated protein), apolipoprotein A1, and gelsolin.[4] Due to the rareness of the other types of familial neuropathies, transthyretin amyloidogenesis-associated polyneuropathy should probably be considered first.[5] "FAP-I" and "FAP-II" are associated with transthyretin.[1][6] (Senile systemic amyloidosis [abbreviated "SSA"] is also associated with transthyretin aggregation.) "FAP-III" is also known as "Iowa-type", and involves apolipoprotein A1.[7] "FAP-IV" is also known as "Finnish-type", and involves gelsolin.[8] Fibrinogen, apolipoprotein A1, and lysozyme are associated with a closely related condition, familial visceral amyloidosis. Diagnosis is confirmed by blood tests, organ biopsies, and tissue biopsies. Genetic testing can also be used to confirm a mutation in the TTR gene. Although some people with a hATTR gene mutation may not experience symptoms. ## Treatment[edit] Liver transplantation has proven to be effective for ATTR familial amyloidosis due to Val30Met mutation.[9] In 2011 the European Medicines Agency approved tafamidis for this condition.[10] The FDA rejected the application for marketing approval in the US in 2012 on the basis that the clinical trial data did not show efficacy based on a functional endpoint, and the FDA requested further clinical trials.[11] ## References[edit] 1. ^ a b Andrade C (September 1952). "A peculiar form of peripheral neuropathy; familiar atypical generalized amyloidosis with special involvement of the peripheral nerves". Brain. 75 (3): 408–27. doi:10.1093/brain/75.3.408. PMID 12978172. 2. ^ Kelly JW (February 1996). "Alternative conformations of amyloidogenic proteins govern their behavior". Curr. Opin. Struct. Biol. 6 (1): 11–7. doi:10.1016/S0959-440X(96)80089-3. PMID 8696966. 3. ^ Dobson CM (December 2003). "Protein folding and misfolding". Nature. 426 (6968): 884–90. Bibcode:2003Natur.426..884D. doi:10.1038/nature02261. PMID 14685248. 4. ^ Ghoshdastider U, Popp D, Burtnick LD, Robinson RC (2013). "The expanding superfamily of gelsolin homology domain proteins". Cytoskeleton. 70 (11): 775–95. doi:10.1002/cm.21149. PMID 24155256. 5. ^ Delahaye N, Rouzet F, Sarda L, et al. (July 2006). "Impact of liver transplantation on cardiac autonomic denervation in familial amyloid polyneuropathy". Medicine (Baltimore). 85 (4): 229–38. doi:10.1097/01.md.0000232559.22098.c3. PMID 16862048. 6. ^ "Amyloid". 7. ^ "Amyloid". 8. ^ Akiya S, Nishio Y, Ibi K, et al. (July 1996). "Lattice corneal dystrophy type II associated with familial amyloid polyneuropathy type IV". Ophthalmology. 103 (7): 1106–10. doi:10.1016/s0161-6420(96)30560-5. PMID 8684801. 9. ^ "ATTR Famililial Amyloidosis". BU – Amyloid Treatment & Research Program. Archived from the original on 2008-07-06. 10. ^ Said, G; Grippon, S; Kirkpatrick, P (1 March 2012). "Tafamidis". Nature Reviews. Drug Discovery. 11 (3): 185–6. doi:10.1038/nrd3675. PMID 22378262. 11. ^ Grogan, Kevin (19 June 2012). "FDA rejects Pfizer rare disease drug tafamidis". Pharma Times. ## External links[edit] Classification D * ICD-10: E85.1 * ICD-9-CM: 277.3 * MeSH: D028227 [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-aminobutyric 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	Familial amyloid neuropathy	c0206245	26,443	wikipedia	https://en.wikipedia.org/wiki/Familial_amyloid_neuropathy	2021-01-18T18:36:48	{"mesh": ["D028227"], "icd-9": ["277.3"], "icd-10": ["E85.1"], "wikidata": ["Q3338677"]}
Behavior in which a person refuses regular employment For temporary refusal of work, see Strike action. Part of a series on Libertarianism Origins * Anarchism * Individualist anarchism * Libertarian communism * Libertarian socialism * Social anarchism Concepts * Anti-authoritarianism * Anti-capitalism * Anti-militarism * Anti-statism * Civil disobedience * Civil libertarianism * Class struggle * Communes * Decentralization * Decentralized planning * Direct action * Economic democracy * Egalitarianism * Expropriative anarchism * Federalism * Free association * Free love * Free market * Free-market anarchism * Free migration * Freedom of association * Global justice movement * Gift economy * Illegalism * Individualism * Individual reclamation * Left-wing market anarchism * Libertarian possibilism * Liberty * Non-voting * Participatory economics * Propaganda of the deed * Property is theft * Really Really Free Market * Refusal of work * Self-governance * Self-ownership * Social ecology * Squatting * Stateless society * Workers' councils * Workers' self-management People * Andrews * Armand * Bakunin * Berkman * Bookchin * Carson * Cleyre * Chomsky * Déjacque * Durruti * Ferrer * Magón * Galleani * Godwin * Goldman * Goodman * Graeber * Greene * Hodgskin * Kropotkin * La Boétie * Landauer * Long * Makhno * Malatesta * Margall * Michel * Most * Pannella * Paterson * Paul * Proudhon * Rocker * Spooner * Stirner * Thoreau * Tolstoy * Tucker * Voline * Warren Related topics * Criticism * Left-libertarianism * Philosophical anarchism * Right-libertarianism * Libertarianism portal * Anarchism portal * v * t * e Refusal of work is behavior in which a person refuses regular employment.[1] As actual behavior, with or without a political or philosophical program, it has been practiced by various subcultures and individuals. Radical political positions have openly advocated refusal of work. From within Marxism it has been advocated by Paul Lafargue and the Italian workerist/autonomists (e.g. Antonio Negri, Mario Tronti),[1] the French ultra-left (e.g. Échanges et Mouvement); and within anarchism (especially Bob Black and the post-left anarchy tendency).[2] ## Contents * 1 Abolition of unfree labour * 2 Concerns over wage slavery * 3 Political views * 3.1 Marxism * 3.1.1 Paul Lafargue and The Right to be Lazy * 3.1.2 Situationist International * 3.1.3 Autonomism * 3.1.4 André Gorz * 3.2 Anarchism * 3.2.1 The Abolition of Work * 4 Anti-work * 4.1 The Idler * 5 Refusal of work in practice * 5.1 "Slackers" * 5.2 NEET * 5.3 "Freeters" and parasite singles * 5.4 Vagrancy * 5.4.1 Cynic philosophical school * 5.4.2 Sadhus * 5.4.3 "Hobos", "tramps", and "bums" * 5.4.4 "Gutter punks" * 5.4.5 "Work-shy" * 6 See also * 7 References * 8 External links ## Abolition of unfree labour[edit] International human rights law does not recognize the refusal of work or right not to work by itself except the right to strike. However the Abolition of Forced Labour Convention adopted by International Labour Organization in 1957 prohibits all forms of forced labour.[3] ## Concerns over wage slavery[edit] Main article: Wage slavery Wage slavery refers to a situation where a person's livelihood depends on wages, especially when the dependence is total and immediate.[4][5] It is a negatively connoted term used to draw an analogy between slavery and wage labor, and to highlight similarities between owning and employing a person. The term 'wage slavery' has been used to criticize economic exploitation and social stratification, with the former seen primarily as unequal bargaining power between labor and capital (particularly when workers are paid comparatively low wages, e.g. in sweatshops),[6] and the latter as a lack of workers' self-management.[7][8][9] The criticism of social stratification covers a wider range of employment choices bound by the pressures of a hierarchical social environment (i.e. working for a wage not only under threat of starvation or poverty, but also of social stigma or status diminution).[10][11][12] Similarities between wage labor and slavery were noted at least as early as Cicero.[13] Before the American Civil War, Southern defenders of African American slavery invoked the concept to favorably compare the condition of their slaves to workers in the North.[14][15] With the advent of the industrial revolution, thinkers such as Proudhon and Marx elaborated the comparison between wage labor and slavery in the context of a critique of property not intended for active personal use.[16][17] The introduction of wage labor in 18th century Britain was met with resistance – giving rise to the principles of syndicalism.[18][19][20][21] Historically, some labor organizations and individual social activists, have espoused workers' self-management or worker cooperatives as possible alternatives to wage labor.[8][20] ## Political views[edit] ### Marxism[edit] Paul Lafargue author of antiwork book The Right to Be Lazy #### Paul Lafargue and The Right to be Lazy[edit] The Right to be Lazy is an essay by Cuban-born French revolutionary Marxist Paul Lafargue, written from his London exile in 1880. The essay polemicizes heavily against then-contemporary liberal, conservative, Christian and even socialist ideas of work. Lafargue criticizes these ideas from a Marxist perspective as dogmatic and ultimately false by portraying the degeneration and enslavement of human existence when being subsumed under the primacy of the "right to work", and argues that laziness, combined with human creativity, is an important source of human progress. He manifests that "When, in our civilized Europe, we would find a trace of the native beauty of man, we must go seek it in the nations where economic prejudices have not yet uprooted the hatred of work ... The Greeks in their era of greatness had only contempt for work: their slaves alone were permitted to labor: the free man knew only exercises for the body and mind ... The philosophers of antiquity taught contempt for work, that degradation of the free man, the poets sang of idleness, that gift from the Gods."[22] And so he says "Proletarians, brutalized by the dogma of work, listen to the voice of these philosophers, which has been concealed from you with jealous care: A citizen who gives his labor for money degrades himself to the rank of slaves." (The last sentence paraphrasing Cicero.[13]) #### Situationist International[edit] Raoul Vaneigem, important theorist of the post-surrealist Situationist International which was influential in the May 68 events in France, wrote The Book of Pleasures. In it he says that "You reverse the perspective of power by returning to pleasure the energies stolen by work and constraint ... As sure as work kills pleasure, pleasure kills work. If you are not resigned to dying of disgust, then you will be happy enough to rid your life of the odious need to work, to give orders (and obey them), to lose and to win, to keep up appearances, and to judge and be judged."[23] #### Autonomism[edit] Main article: Autonomism Part of a series on Libertarian socialism Political concepts * Anti-authoritarianism * Anti-Leninism * Anti-Stalinist left * Anti-statism * Class conflict * Classless society * Community centre * Consensus democracy * Commune * Decentralization * Direct democracy * Dual power * Egalitarian community * Free association * Free love * Free school * General strike * Libertarian possibilism * Mutual aid * Post-leftism * Prefigurative politics * Proletarian internationalism * Refusal of work * State capitalism * Stateless society * Squatting * Ultra-leftism * Wage slavery * Workers' control * Workers' council Economics * Anarchist economics * Anti-capitalism * Anti-consumerism * Cooperative * Common ownership * Common-pool resource * Cost the limit of price * Decentralized planning * Economic democracy * Free market * Freed market * Gift economy * Give-away shop * Guilds * Inclusive Democracy * Industrial democracy * Laissez-faire * Market abolitionism * Really Really Free Market * Social economy * Social enterprise * Socialization * Socialist economics * Use value * Worker cooperative People * Albert * Andrews * Avrich * Bakunin * Berkman * Boggs * Bonanno * Bookchin * Breton * Camus * Castoriadis * Chomsky * Czolgosz * Dauvé * Day * Debord * Dunayevskaya * Durruti * Fanelli * Federici * Ferrer * Fotopoulos * Fourier * Godwin * Goldman * Goodman * Graeber * Greene * Gorz * Guattari * Guérin * Herzen * Heywood (Angela) * Heywood (Ezra) * Hodgskin * Hoffman * Holloway * James * Korsch * Kropotkin * Landauer * Lefort * Liebknecht * Lorenzo * Lubbe * Luxemburg * Magón * Makhno * Malatesta * Marcos * Marcuse * Margall * Marx * Mattick * Michel * Montseny * Morris * Negri * Öcalan * Pallis * Pankhurst * Pannekoek * Parsons (Albert) * Parsons (Lucy) * Perlman * Petrichenko * Proudhon * Reich * Rocker * Rühle * Sacco * Santillán * Sartre * Spooner * Tolstoy * Thompson * Tucker * Vaneigem * Vanzetti * Varoufakis * Ward * Warrem * Wilde * Zerzan * Zinn Philosophies and tendencies Anarchist tendencies * Green * Primitivism * Individualism * Egoism * Free-market * Organisational * Insurrectionism * Platformism * Mutualism * Syndicalism * Synthesism * Philosophical * Social * Collectivism * Communism * Magonism * Pacifism * Religious * Christian * Muslim * Jewish Marxist tendencies * Classical Marxism * Libertarian Marxism * Autonomism * Chaulieu–Montal tendency * De Leonism * Johnson–Forest tendency * Left communism * Bordigism * Communization * Council communism * Lettrism * Situationism * Marxist humanism * Western Marxism * Frankfurt School * Freudo-Marxism Other tendencies * Cantonalism * Communalism * Democratic confederalism * Dialectical naturalism * Libertarian municipalism * Social ecology * Democratic socialism * Eco-socialism * Guild socialism * Inclusive Democracy * Market socialism * Left-wing laissez-faire * Left-wing market anarchism * Neozapatismo * New Left * Participism * Utopian socialism * Fourierism Significant events * Diggers * Enragés * Paris Commune * Haymarket affair * Assassination of William McKinley * Strandzha Commune * Russian Revolution * Bavarian Soviet Republic * German Revolution of 1918–1919 * Biennio Rosso * Ukrainian War of Independence * Left-wing uprisings against the Bolsheviks (Kronstadt rebellion) * Escuela moderna * Mexican Revolution * Reichstag fire * Spanish Revolution of 1936 * Uprising of 1953 in East Germany * Hungarian Revolution of 1956 * May 1968 events in France * Prague Spring * Left communism in China * Hippie movement * Autonomia Operaia * Chiapas conflict * 1999 Seattle WTO protests * Argentinazo * Occupy movement * Kurdish–Turkish conflict (2015 rebellion) * Iran–PJAK conflict * Rojava conflict Related topics * Anarchism * Anarchism and socialism * Communism * Left-libertarianism * Libertarianism * Marxism * Social democracy * Socialism * Syndicalism * Anarchism portal * Socialism portal * Politics portal * v * t * e Autonomist philosopher Bifo defines refusal of work as not "so much the obvious fact that workers do not like to be exploited, but something more. It means that the capitalist restructuring, the technological change, and the general transformation of social institutions are produced by the daily action of withdrawal from exploitation, of rejection of the obligation to produce surplus value, and to increase the value of capital, reducing the value of life."[1] More simply he states "Refusal of work means ... I don't want to go to work because I prefer to sleep. But this laziness is the source of intelligence, of technology, of progress. Autonomy is the self-regulation of the social body in its independence and in its interaction with the disciplinary norm."[1] As a social development Bifo remembers "that one of the strong ideas of the movement of autonomy proletarians during the 70s was the idea "precariousness is good". Job precariousness is a form of autonomy from steady regular work, lasting an entire life. In the 1970s many people used to work for a few months, then to go away for a journey, then back to work for a while. This was possible in times of almost full employment and in times of egalitarian culture. This situation allowed people to work in their own interest and not in the interest of capitalists, but quite obviously this could not last forever, and the neoliberal offensive of the 1980s was aimed to reverse the rapport de force."[1] As a response to these developments his view is that "the dissemination of self-organized knowledge can create a social framework containing infinite autonomous and self-reliant worlds."[1] From this possibility of self-determination even the notion of workers' self-management is seen as problematic since "Far from the emergence of proletarian power, ... this self-management as a moment of the self-harnessing of the workers to capitalist production in the period of real subsumption ... Mistaking the individual capitalist (who, in real subsumption disappears into the collective body of share ownership on one side, and hired management on the other) rather than the enterprise as the problem, ... the workers themselves became a collective capitalist, taking on responsibility for the exploitation of their own labor. Thus, far from breaking with 'work', ... the workers maintained the practice of clocking-in, continued to organize themselves and the community around the needs of the factory, paid themselves from profits arising from the sale of watches, maintained determined relations between individual work done and wage, and continued to wear their work shirts throughout the process."[24] #### André Gorz[edit] André Gorz was an Austrian and French social philosopher. Also a journalist, he co-founded Le Nouvel Observateur weekly in 1964. A supporter of Jean-Paul Sartre's existentialist version of Marxism after World War Two, in the aftermath of the May '68 student riots, he became more concerned with political ecology. His central theme was wage labour issues such as liberation from work, the just distribution of work, social alienation, and a guaranteed basic income.[25] Among his works critical of work and the work ethic include Critique de la division du travail (Seuil, 1973. Collective work), Farewell to the Working Class (1980 – Galilée and Le Seuil, 1983, Adieux au Prolétariat), Critique of Economic Reason (Verso, 1989 first published 1988) and Reclaiming Work: Beyond the Wage-Based Society (1999). ### Anarchism[edit] #### The Abolition of Work[edit] Part of the Politics series on Anarchism Schools of thought * Black * Christian * Collectivist * Communist * Egoist * Epistemological * Existentialist * Feminist * Green * Independence * Individualist * Insurrectionary * Jewish * Mutualist * Naturist * Pacifist * Philosophical * Platformist * Post-anarchism * Post-colonial * Post-left * Primitivist * Queer * Social * Syndicalist * Synthesist * Without adjectives * Theory * Practice * Anarchy * Anarchist Black Cross * Anarchist criminology * Anationalism * Anti-authoritarianism * Anti-capitalism * Anti-militarism * Affinity group * Autonomous social center * Black bloc * Classless society * Class struggle * Communes * Consensus democracy * Conscientious 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Abolition of Work, Bob Black's most widely read essay, draws upon the ideas of Charles Fourier, William Morris, Herbert Marcuse, Paul Goodman, and Marshall Sahlins. In it he argues for the abolition of the producer- and consumer-based society, where, Black contends, all of life is devoted to the production and consumption of commodities. Attacking Marxist state socialism as much as market capitalism, Black argues that the only way for humans to be free is to reclaim their time from jobs and employment, instead turning necessary subsistence tasks into free play done voluntarily – an approach referred to as "ludic". The essay argues that "no-one should ever work", because work – defined as compulsory productive activity enforced by economic or political means – is the source of most of the misery in the world. Black denounces work for its compulsion, and for the forms it takes – as subordination to a boss, as a "job" which turns a potentially enjoyable task into a meaningless chore, for the degradation imposed by systems of work-discipline, and for the large number of work-related deaths and injuries – which Black typifies as "homicide". He views the subordination enacted in workplaces as "a mockery of freedom", and denounces as hypocrites the various theorists who support freedom while supporting work. Subordination in work, Black alleges, makes people stupid and creates fear of freedom. Because of work, people become accustomed to rigidity and regularity, and do not have the time for friendship or meaningful activity. Most workers, he states, are dissatisfied with work (as evidenced by petty deviance on the job), so that what he says should be uncontroversial; however, it is controversial only because people are too close to the work-system to see its flaws. Bob Black, contemporary American anarchist associated with the post-left anarchy tendency Play, in contrast, is not necessarily rule-governed, and is performed voluntarily, in complete freedom, as a gift economy. He points out that hunter-gatherer societies are typified by play, a view he backs up with the work of Marshall Sahlins; he recounts the rise of hierarchal societies, through which work is cumulatively imposed, so that the compulsive work of today would seem incomprehensibly oppressive even to ancients and medieval peasants. He responds to the view that "work," if not simply effort or energy, is necessary to get important but unpleasant tasks done, by claiming that first of all, most important tasks can be rendered ludic, or "salvaged" by being turned into game-like and craft-like activities, and secondly that the vast majority of work does not need doing at all. The latter tasks are unnecessary because they only serve functions of commerce and social control that exist only to maintain the work-system as a whole. As for what is left, he advocates Charles Fourier's approach of arranging activities so that people will want to do them. He is also skeptical but open-minded about the possibility of eliminating work through labor-saving technologies. He feels the left cannot go far enough in its critiques because of its attachment to building its power on the category of workers, which requires a valorization of work. ## Anti-work[edit] Bertrand Russell, writer of In Praise of Idleness and Other Essays The anti-work ethic states that labor tends to cause unhappiness, therefore, the quantity of labor ought to be lessened, and/or that work should not be enforced by economic or political means. The ethic appeared in anarchist circles and have come to prominence with essays such as In Praise of Idleness and Other Essays by Bertrand Russell, The Right to Useful Unemployment by Ivan Illich, and The Abolition of Work by Bob Black,[26] published in 1985. Friedrich Nietzsche was a notable philosopher who presented a critique of work and an anti-work ethic. In 1881, he wrote: > The eulogists of work. Behind the glorification of 'work' and the tireless talk of the 'blessings of work' I find the same thought as behind the praise of impersonal activity for the public benefit: the fear of everything individual. At bottom, one now feels when confronted with work – and what is invariably meant is relentless industry from early till late – that such work is the best police, that it keeps everybody in harness and powerfully obstructs the development of reason, of covetousness, of the desire for independence. For it uses up a tremendous amount of nervous energy and takes it away from reflection, brooding, dreaming, worry, love, and hatred; it always sets a small goal before one's eyes and permits easy and regular satisfactions. In that way a society in which the members continually work hard will have more security: and security is now adored as the supreme goddess..." > > — Friedrich Nietzsche, The Dawn, p. 173 The American architect, designer and futurist Buckminster Fuller presented an argument that rejected the notion of it being a necessity for people to be in employment to earn a living, saying: > "We should do away with the absolutely specious notion that everybody has to earn a living. It is a fact today that one in ten thousand of us can make a technological breakthrough capable of supporting all the rest. The youth of today are absolutely right in recognizing this nonsense of earning a living. We keep inventing jobs because of this false idea that everybody has to be employed at some kind of drudgery because, according to Malthusian Darwinian theory he must justify his right to exist. So we have inspectors of inspectors and people making instruments for inspectors to inspect inspectors. The true business of people should be to go back to school and think about whatever it was they were thinking about before somebody came along and told them they had to earn a living." > > — Richard Buckminster Fuller, [27] ### The Idler[edit] The Idler is a bi-monthly British magazine devoted to promoting its ethos of "idle living" and all that entails. It was founded in 1993 by Tom Hodgkinson and Gavin Pretor-Pinney with the intention of exploring alternative ways of working and living.[28] ## Refusal of work in practice[edit] ### "Slackers"[edit] The term slacker is commonly used to refer to a person who avoids work (especially British English), or (primarily in North American English) an educated person who is viewed as an underachiever.[29][30] While use of the term slacker dates back to about 1790 or 1898 depending on the source, it gained some recognition during the British Gezira Scheme, when Sudanese labourers protested their relative powerlessness by working lethargically, a form of protest known as 'slacking'.[31] The term achieved a boost in popularity after its use in the films Back to the Future and Slacker.[29][32] ### NEET[edit] NEET is an acronym for the government classification for people currently "Not in Employment, Education or Training". It was first used in the United Kingdom but its use has spread to other countries, including Japan, China, and South Korea. In the United Kingdom, the classification comprises people aged between 16 and 24 (some 16-year-olds are still of compulsory school age). In Japan, the classification comprises people aged between 15 and 34 who are unemployed, unmarried, not enrolled in school or engaged in housework, and not seeking work or the technical training needed for work. The "NEET group" is not a uniform set of individuals but consists of those who will be NEET for a short time while essentially testing out a variety of opportunities and those who have major and often multiple issues and are at long term risk of remaining disengaged. In Brazil, "nem-nem" (short of nem estudam nem trabalham (neither working nor studying) is a term with similar meaning.[33] In Mexico and Spain, "Ni-Ni" (short of Ni estudia Ni trabaja) is also applied. ### "Freeters" and parasite singles[edit] Freeter (フリーター, furītā) (other spellings below) is a Japanese expression for people between the age of 15 and 34 who lack full-time employment or are unemployed, excluding homemakers and students. They may also be described as underemployed or freelance workers. These people do not start a career after high school or university but instead usually live as so-called parasite singles with their parents and earn some money with low skilled and low paid jobs. The word freeter or freeta was first used around 1987 or 1988 and is thought to be an amalgamation of the English word free (or perhaps freelance) and the German word Arbeiter ("worker").[34] Parasite single (パラサイトシングル, parasaito shinguru) is a Japanese term for a single person who lives with their parents until their late twenties or early thirties in order to enjoy a carefree and comfortable life. In English, the expression "sponge" or "basement dweller" may sometimes be used. The expression is mainly used in reference to Japanese society, but similar phenomena can also be found in other countries worldwide. In Italy, 30-something singles still relying on their mothers are joked about, being called Bamboccioni (literally: grown-up babies) and in Germany they are known as Nesthocker (German for an altricial bird), who are still living at Hotel Mama [de]. Such behaviour is considered normal in Greece, both because of the traditional strong family ties and because of the low wages.[35] ### Vagrancy[edit] A vagrant is a person in a situation of poverty, who wanders from place to place without a home or regular employment or income. Many towns in the developed world have shelters for vagrants. Common terminology is a tramp or a 'gentleman of the road'. Laws against vagrancy in the United States have partly been invalidated as violative of the due process clauses of the U.S. Constitution.[36] However, the FBI report on crime in the United States for 2005 lists 24,359 vagrancy violations.[37] #### Cynic philosophical school[edit] Diogenes of Sinope – depicted by Jean-Léon Gérôme Cynicism (Greek: κυνισμός), in its original form, refers to the beliefs of an ancient school of Greek philosophers known as the Cynics (Greek: Κυνικοί, Latin: Cynici). Their philosophy was that the purpose of life was to live a life of Virtue in agreement with Nature. This meant rejecting all conventional desires for wealth, power, health, and fame, and by living a simple life free from all possessions. They believed that the world belonged equally to everyone, and that suffering was caused by false judgments of what was valuable and by the worthless customs and conventions which surrounded society. The first philosopher to outline these themes was Antisthenes, who had been a pupil of Socrates in the late 5th century BCE. He was followed by Diogenes of Sinope, who lived in a tub on the streets of Athens. Diogenes took Cynicism to its logical extremes, and came to be seen as the archetypal Cynic philosopher. He was followed by Crates of Thebes who gave away a large fortune so he could live a life of Cynic poverty in Athens. Cynicism spread with the rise of Imperial Rome in the 1st century, and Cynics could be found begging and preaching throughout the cities of the Empire. It finally disappeared in the late 5th century, although many of its ascetic and rhetorical ideas were adopted by early Christianity. The name Cynic derives from the Greek word κυνικός, kynikos, "dog-like" and that from κύων, kyôn, "dog" (genitive: kynos).[38] It seems certain that the word dog was also thrown at the first Cynics as an insult for their shameless rejection of conventional manners, and their decision to live on the streets. Diogenes, in particular, was referred to as the Dog.[39] #### Sadhus[edit] A sadhu in Haridwar, India, during Kumbha Mela. In Hinduism, sadhu is a common term for a mystic, an ascetic, practitioner of yoga (yogi) and/or wandering monks. The sadhu is solely dedicated to achieving the fourth and final Hindu goal of life, moksha (liberation), through meditation and contemplation of Brahman. Sadhus often wear ochre-colored clothing, symbolizing renunciation. #### "Hobos", "tramps", and "bums"[edit] A hobo is a migratory worker or homeless vagabond, often penniless.[40] The term originated in the western—probably northwestern—United States during the last decade of the 19th century.[41] Unlike tramps, who worked only when they were forced to, and bums, who did not work at all, hobos were workers who wandered.[41][42] In British English and traditional American English usage, a tramp is a long term homeless person who travels from place to place as an itinerant vagrant, traditionally walking or hiking all year round. Two hobos walking along railroad tracks, after being put off a train. One is carrying a bindle. While some tramps may do odd jobs from time to time, unlike other temporarily homeless people they do not seek out regular work and support themselves by other means such as begging or scavenging. This is in contrast to: * bum, a stationary homeless person who does not work, and who begs or steals for a living in one place. * hobo, a homeless person who travels from place to place looking for work, often by "freighthopping", illegally catching rides on freight trains * Schnorrer, a Yiddish term for a person who travels from city to city begging. Both terms, "tramp" and "hobo" (and the distinction between them), were in common use between the 1880s and the 1940s. Their populations and the usage of the terms increased during the Great Depression. Like "hobo" and "bum," the word "tramp" is considered vulgar in American English usage, having been subsumed in more polite contexts by words such as "homeless person" or "vagrant." In colloquial American English, the word "tramp" can also mean a sexually promiscuous female or even prostitute. Tramps used to be known euphemistically in England and Wales as "gentlemen of the road." Tramp is derived from the Middle English as a verb meaning to "walk with heavy footsteps", and to go hiking.[43] Bart Kennedy, a self-described tramp of 1900 US, once said "I listen to the tramp, tramp of my feet, and wonder where I was going, and why I was going."[44] #### "Gutter punks"[edit] A gutter punk is a homeless or transient individual, often through means of freighthopping or hitchhiking. Gutter punks are often juveniles who are in some way associated with the anarcho-punk subculture.[45] In certain regions, gutter punks are notorious for panhandling and often display cardboard signs that make statements about their lifestyles.[45] Gutter punks are generally characterized as being voluntarily unemployed.[45] #### "Work-shy"[edit] See also: Aktion Arbeitsscheu Reich In Nazi Germany, so-called "work-shy" individuals were rounded up and imprisoned in Nazi concentration camps as black triangle prisoners.[46][47] ## See also[edit] * Automation * Counterculture * Decent work * "From each according to his ability, to each according to his need" * "He who does not work, neither shall he eat" * Money-rich, time-poor * Post-work society * Unfree labour * Universal basic income ## References[edit] 1. ^ a b c d e f "Refusal of work means quite simply:I don't want to go to work because I prefer to sleep. But this laziness is the source of intelligence, of technology, of progress. Autonomy is the self-regulation of the social body in its independence and in its interaction with the disciplinary norm.""What is the Meaning of Autonomy Today?" by Bifo 2. ^ The entire text of Bob Black's 1986 collection The Abolition of Work and Other Essays at Inspiracy 3. ^ Abolition of Forced Labour Convention(No.105), Article 1 4. ^ "Definition of WAGE SLAVE". www.merriam-webster.com. 5. ^ "the definition of wage slave". www.dictionary.com. 6. ^ Sandel, Michael J. (2 January 1998). Democracy's Discontent: America in Search of a Public Philosophy. Harvard University Press. ISBN 9780674197459 – via Google Books. 7. ^ "Conversation with Noam Chomsky, p. 2 of 5". Globetrotter.berkeley.edu. Retrieved 2010-06-28. 8. ^ a b "From wage slaves to wage workers: cultural opportunity structures and the evolution of the wage demands of the Knights of Labor and the American Federation of Labor, 1880–1900. Crime". Socialissues.wiseto.com. 2007-08-30. Archived from the original on 2009-06-30. Retrieved 2010-06-28. 9. ^ "The Bolsheviks and Workers Control". www.spunk.org. 10. ^ Full text of Cannibals All! Or, Slaves Without Masters, by George Fitzhugh (1857) 11. ^ Robert Schalkenbach Foundation Archived 2012-07-16 at the Wayback Machine 12. ^ "Conversation with Noam Chomsky, p. 2 of 5". globetrotter.berkeley.edu. 13. ^ a b "...vulgar are the means of livelihood of all hired workmen whom we pay for mere manual labor, not for artistic skill; for in their case the very wage they receive is a pledge of their slavery." - De Officiis [1] 14. ^ Foner, Eric. Free Soil, Free Labor, Free Men. p. xix. 15. ^ Jensen, Derrick (2002). The Culture of Make Believe. 16. ^ "Economic Manuscripts: Theories of Surplus-Value, Chapter 7". www.marxists.org. 17. ^ "Proudhon, Pierre Joseph. What is Property? An Inquiry into the Principle of Right and of Government". 18. ^ [The Making of the English Working Class, p. 599] 19. ^ [The Making of the English Working Class, p. 912] 20. ^ a b [Geoffrey Ostergaard, The Tradition of Workers' Control, p. 133] 21. ^ [Competitive Advantage on the Shop Floor, p. 37] 22. ^ Paul Lafargue. The Right To Be Lazy 23. ^ The book of pleasures by Raoul Vaneigem 24. ^ "5. The Refusal of Work". libcom.org. 25. ^ André Gorz, Pour un revenu inconditionnel suffisant, published in Transversales/Science-Culture (n° 3, 3e trimestre 2002) (in French) 26. ^ "THE ABOLITION OF WORK by Bob Black". www.zpub.com. 27. ^ R. Buckminster Fuller > Quotes > Quotable Quote. Goodreads. Retrieved 24 January 2019. 28. ^ "Idler About". 29. ^ a b "slacker". Random House, Inc. 2006. 30. ^ Compact Oxford English Dictionary. "slacker". 31. ^ Bernal, V. (1997). "Colonial Moral Economy and the Discipline of Development: The Gezira Scheme and "Modern" Sudan". Cultural Anthropology. 12 (4): 447–79. doi:10.1525/can.1997.12.4.447. 32. ^ "Online Etymology Dictionary, slack (adj.)". Douglas Harper. 33. ^ "Dois em cada dez jovens brasileiros nem estudam e nem trabalham". Fantástico. 27 July 2014. 34. ^ "A Way with Words - freeter". www.waywordradio.org. 35. ^ "ΤΑ ΝΕΑ". ΤΑ ΝΕΑ. 36. ^ "Vagrancy - LII / Legal Information Institute". 37. ^ Table 43 – Crime in the United States 2005 http://www.fbi.gov/ucr/05cius/data/table_43.html 38. ^ "No document found". www.perseus.tufts.edu. 39. ^ An obscure reference to "the Dog" in Aristotle's Rhetoric (3.10.1411a25) is generally agreed to be the first reference to Diogenes. 40. ^ Definition of 'hobo' from the Merriam-Webster website 41. ^ a b "On Hobos, Hautboys, and Other Beaus". OUPblog. Oxford University Press. November 12, 2008. Retrieved 2009-08-05. 42. ^ Mencken, Henry Louis (1945). "American Slang". The American Language: An Inquiry Into the Development of English in the United States. A.A. Knopf. p. 581. ISBN 978-0-394-40075-4. 43. ^ See Wiktionary. 44. ^ Bart Kennedy, A Man Adrift, p.161, Chicago, H.S. Stone, 1900. 45. ^ a b c John M. Glionna, There's not a lot of love in the Haight, Los Angeles Times, May 29, 2007. 46. ^ Gellately, Robert; Stoltzfus, Nathan (2001). Social Outsiders in Nazi Germany. Princeton University Press. p. 12. ISBN 978-0-691-08684-2. 47. ^ Schulle, Diana (2009). Meyer, Beate; Simon, Hermann; Schütz, Chana (eds.). Jews in Nazi Berlin: From Kristallnacht to Liberation. University of Chicago Press. p. 146. 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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-aminobutyric 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	Refusal of work	None	26,444	wikipedia	https://en.wikipedia.org/wiki/Refusal_of_work	2021-01-18T18:51:01	{"wikidata": ["Q250452"]}
Hemidystonia-hemiatrophy (HD-HA) is a rare dystonia, usually caused by a static cerebral injury occurring at birth or during infancy, that is characterized by a combination of hemidystonia (HD), involving one half of the body, and hemiatrophy (HA) on the same side as the HD. ## Epidemiology The prevalence is unknown but between 30 to 100 cases of HD-HA have been described to date. ## Clinical description The mean age of HD onset is 14.9 years (range 1-46 years). HD (sustained and repetitive muscle contractions resulting in abnormal movements or posture involving a single side of the body) is preceded in 90 % of cases by hemiparesis with a marked improvement before the onset of HD. Pyramidal syndrome and seizures may also be observed. In HD-HA, dystonia is associated with ipsilateral somatic atrophy. ## Etiology Common causes of HD-HA are childbirth or perinatal complications, delayed sequelae of stroke or head trauma. The causative injury generally occurs at birth or during early infancy. ## Diagnostic methods Diagnosis of HD-HA is clinical, based on a careful anamnesis of the patient's birth and early childhood period and physical examinations, as well as brain imaging. Cerebral hemiatrophy, nonspecific diffuse atrophy, lesions involving the basal ganglia and thinning of the periventricular white matter with ipsilateral ventricular dilatation may be observed with magnetic resonance imaging (MRI). Brain imaging is characterized by lesions involving the basal ganglia or by cerebral hemiatrophy contralateral to the HD. Cerebral HA can lead to ipsilateral skull thickening and hyperpneumatization of paranasal sinuses, resulting in Dyke-Davidoff syndrome. ## Differential diagnosis HD-HA syndrome should be differentiated from other causes of primary dystonia or dystonia secondary to inherited disorders or neurodegenerative diseases. ## Management and treatment HD responds poorly to medical therapy and drugs such as anticholinergics, baclofen, benzodiazepines, and levodopa, in monotherapy or in combination, result in a modest or transient response. Botulinum toxin injections may be useful for HD if a relevant focal target can be identified. Deep brain stimulation mainly targeting the globus pallidus is not a routine treatment of HD-HA syndrome, but may be discussed in the most severe cases on an individual basis. ## Prognosis The younger the age of the offending cerebral insult, the longer is the delay in the onset of dystonia. The symptoms of delayed HD usually diminish and attain a plateau a few years after initial presentation; while HA of the affected body part usually remains stationary as the patient approaches the second decade of life. [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-aminobutyric 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	Hemidystonia-hemiatrophy syndrome	None	26,445	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=306741	2021-01-23T18:24:22	{"synonyms": ["HD-HA syndrome"]}
Type of skin cancer Malignant chondroid syringoma Other namesMCS, Malignant mixed tumor Histopathological examination of malignant chondroid syringoma CausesPrior physical injury, excessive mucoid matrix, chondroid syringoma less than three centimetres in size Diagnostic methodClinical diagnosis needed TreatmentExcision, chemotherapy or radiotherapy is occasionally recommended A malignant chondroid syringoma (also known as a "malignant mixed tumour" or "MCS" ) is a very uncommon cutaneous (skin) condition characterised by an adnexal eccrine tumour.[1]:667 It is commonly reported to present on the trunk and extremities and behave in an aggressive manner.[1][2] MCS is a cancerous subtype of its benign counterpart, chondroid syringoma, and is the least common variation that has an approximated prevalence of less that 0.005%.[3] These tumours mainly arise "from sebaceous glands, sweat glands, and ectopic salivary glands" (Tural, Selçukbiricik, Günver, Karışmaz, and Serdengecti, 2013) and are rarely encountered in radiopathological and clinical practice.[4][5] The tumours commonly appear with an asymptomatic "slow-growing, painless, solid subcutaneous or intradermal nodules with a normal margin" (Obaidat, Alsaad, and Ghazarian, 2007) and make up for less than one percent of all primary skin tumours.[6] Commonly appearing in the limbs and body, these asymmetrical tumours range from two millimetres to more than three centimetres.[2][7] MCS is one of the rarest subtypes of tumours and usually requires aggressive surgery to terminate.[2] Despite accounting for only a small number of tumours recorded each year, malignant mixed tumours are easily confused with other skin conditions (such as epidermal cyst, pilar cyst, calcifying epithelioma, or a solitary trichoepithelioma (Tural, Selçukbiricik, Günver, Karışmaz, and Serdengecti, 2013)) and have high potential for recurrence after surgical excision.[8][9] The aggressiveness of malignant chondroid syringoma varies, as 49% of cases have had local recurrence whereas some demonstrate regional lymph node or osseous metastasis. The rare neoplasms generally do not follow a determinate development path and are often difficult to diagnose.[10] Histologically, these malignant mixed tumours have epithelial and mesenchymal components and are very large, nodular, circumscribed, and nonulcerated.[11] They are morphologically identical to pleomorphic adenoma and have a female predilection.[4] They range from developing deep dermal to subcutaneous nodules and metastasise at a very high rate.[4][8] Malignant mixed tumours can emerge "de nova or more rarely develop from a cartilaginous syringoma."(IADVL, 2004)[11] ## Contents * 1 Causes * 2 Diagnosis * 3 Treatment * 4 Prognosis * 5 Recorded Cases * 5.1 Facial localisation of a malignant chondroid syringoma * 5.2 Malignant chondroid syringoma of the scalp * 5.3 Multifocal and recurrent malignant chondroid syringoma * 5.4 Lymph node metastasis after excision * 6 History * 7 Terminology * 8 See also * 9 References ## Causes[edit] Currently malignant mixed tumours do not have a definitive predisposing factor; however, prior physical injury has been proposed as a potential risk for the emergence of these tumours.[4] Chondroid syringoma less than three centimetres are shown to have a heightened risk of malignancy. Other critical indicators include excessive mucoid matrix, – a connective tissue tumour with a myxoid background that is composed of "clear, mucoid substance – numerous mitoses, and poorly differentiated chondroid components." (Metzler, Schaumburg-Lever, Hornstein, and Rassner, 1996)[12] ## Diagnosis[edit] Diagnosing malignant mixed tumours is difficult as there many types of tumours and their variants.[9] Malignant chondroid syringoma is particularly challenging to distinguish from other skin tumours as it is prone to the absence of definitive symptoms and an ambiguous clinical presentation.[3] Some signs that help determine diagnosis of malignancy include: "mitosis, nuclear atypia, pleomorphism, lymphatic invasion, and local recurrence" (IADVL, 2004).[11] Though it is usually found within women in the forties, the youngest-recorded case was fourteen years old and the oldest was eighty-six.[12] The tumour is described as invasive[12] and is clinically characterised by faster growth than the benign chondroid syringoma. They can generally be diagnosed when presenting "an epithelial component, eccrine or apocrine differentiation and myoepithelial component of fluctuating prominence" (IADVL, 2004).[11] Diagnosis is recommended to follow microscopic analysis to ensure correct examination.[8] ## Treatment[edit] There currently is no established guideline for the standardised treatment of malignant chondroid syringomas, due to their rarity. However, the efficacy of treatment for malignant mixed tumours depends on the time of diagnosis.[11] An immediate and broad surgical excision "with clear margins" (Tural, Selçukbiricik, Günver, Karışmaz, and Serdengecti, 2013) is considered curative and to be the most successful treatment.[5][8][11][13] This treatment aims for the most efficacious disease control.[5] It is largely agreed that chemotherapy and radiotherapy are ineffective yet are sometimes still recommended,[2][5][11] yet radiotherapy reacts positively to skeletal metastasis.[8] Combination chemotherapy for MCS is reported as unbeneficial.[8] MCS is reported to have a high and continual risk of recurrence of metastasis, some patients experiencing metastasis nearly twenty years after the primary examination.[14] Thus this necessitates consistent clinical follow-up in order to maintain a benign state of the tumour and achieve disease control.[9] ## Prognosis[edit] Malignant mixed tumours have a poor prognosis[11] that is deemed unpredictable due to its spread being lymphatic or blood-borne.[4] As there have only been a limited number of cases that have been reported, prognostic points are challenging to confirm, however mainly "include size, histological type, lymph node involvement, and distant metastasis" (Garcia, Atun, and Fernando, 2016).[3] The outcome of the prognosis is dependent on early diagnosis and complete resection.[4] The standard duration between diagnosis and reappearance was "23 months, 50 months, and 66 months for local recurrence, nodal metastasis, and distant metastasis, [respectively]" (Watarai, Amoh, Aki, Takasu, Katsuoka, 2011).[10] In terms of prognosis regarding recorded patients, "27% of patients died from their disease."(Tural, Selçukbiricik, Günver, Karışmaz, and Serdengecti, 2013)[4] As early as "nine weeks"( Malik, Saxena, and Kamath, 2013) succeeding clinical surgeries, had reports of patients' deaths been recorded.[2] It has also been recorded that "one patient survived twelve years after their diagnosis."(Ka, Gnangnon, and Diouf, 2016)[9] The tumour has a "60% rate of metastasis and mortality in the order of 25%" (Ka, Gnangnon, and Diouf, 2016) with the highest recordings of metastases being found in "lymph nodes and lung and less commonly, bone and brain." (Ka, Gnangnon, and Diouf, 2016)[9] ## Recorded Cases[edit] ### Facial localisation of a malignant chondroid syringoma[edit] A 34-year-old female was admitted with a slowly growing nodular lesion at the left nasolabial region for three years. (Tural, Selçukbiricik, Günver, Karışmaz, and Serdengecti, 2013) Written by Tural Selçukbiricik, Günver, Karışmaz, and Serdengecti, this report investigates the case of a slow growing bump on the face of a thirty-four-year-old woman. After undergoing an excisional biopsy, it was revealed that the nodule had developed into neurofibroma.[8] Originally the patient had undergone excision however she sustained recurrence in under a year of the surgery.[8] She continued to undergo excision and this led to the diagnosis of malignant chondroid syringoma.[8] To remove the tumour, the patient first had a pathological and histopathological examination to examine the metastisation and growth pattern.[8] According to Tural Selçukbiricik, Günver, Karışmaz, and Serdengecti, “the tumour had an expansive growing pattern and a few pleomorphic, atypical cells, and a rare mitotic activity.”(Tural Selçukbiricik, Günver, Karışmaz, and Serdengecti, 2013)[8] They also completed thoracic, abdominal, and cranial CT scans to determine the state of metastasis. The patient has a routine check-up of every three months to ensure no recurrence occurs and so far, has not had any relapse for two years following her procedure.[8] ### Malignant chondroid syringoma of the scalp[edit] This 2013 case report by Malik, Saxena, and Kamath investigates the “large, fungating, and ulcerated growth”(Malik, Saxena, and Kamath, 2013) on the scalp of a sixty-one-year-old woman.[2] The tumour was painless and developed gradually over nine months.[2] An initial diagnosis determined the growth to be a squamous cell malignancy of the scalp. The patient was suggested to have a CECT scan of their head. The scan revealed dural invasion and a surgical excision with primary closure was performed.[2] The histopathology findings revealed: > “small groups as well as scattered pleomorphic epithelial cells having hyperchromatic nuclei and scanty cytoplasm with one to two mitotic figures of high power field, surrounded by abundant basophilic chondromyxoid stroma, diagnostic of malignant CS.”[2] The woman died two days after her operation after yielding a “high-grade fever and altered sensorium.”(Malik, Saxena, and Kamath, 2013)[2] ### Multifocal and recurrent malignant chondroid syringoma[edit] This report follows the development of MCS on a sixty-four-year-old male patient.[3] The masses were described as skin lesions that had developed in a nodular fashion on the patient's right arm.[3] To remove the growths, the patient underwent may surgical procedures where the nodules were effectively excised.[3] The growth was described as a: > “ten centimetre, firm, lobulated mass with skin ulceration and muscle involvement was removed. Microscopic examination revealed infiltrating nests of medium to large epithelial cells embedded in a chondromyxoid matrix with few scattered plasmacytoid myoepithelial cells. There was brisk mitosis as well as large areas of tumour necrosis. All auxiliary lymph nodes were negative for tumour.”[3] (Garcia, Atun, and Fernando, 2016) From this information, Garcia, Atun, and Fernando diagnosed the patient with malignant chondroid syringoma.[3] After the surgery, the patient developed further growths on the scalp, face, body, upper right arm, and right foot. He was recommended chemotherapy however died before treatment began.[3] ### Lymph node metastasis after excision[edit] This journal, written by Watarai, Amoh, Aki, Takasu, and Katsuoka discusses a case of malignant chondroid syringoma on a forty-six-year-old man and the state his diagnosis 12 years after excision. Originally in 1996, the man observed an “asymptomatic, enlarging nodule” (Watarai, Amoh, Aki, Takasu, and Katsuoka, 2011) on the sole of his right foot and proceeded to undergo an initial biopsy where he was not diagnosed.[10] Physically, the nodule was “solitary, dome-shaped, skin coloured, and firm,” (Watarai, Amoh, Aki, Takasu, and Katsuoka, 2011) and was 30 mm x 30 mm. The tumour underwent excision utilising a three-millimetre margin.[10] The nodule was then replaced with grafting of the transplanted skin.[10] The findings were as follows. > “The surgical specimen showed a lobular proliferation of tumour cells with glandular differentiation associated with a few mitotic cells, embedded in a mucinous stroma. Immunohistochemistry showed that the majority of tumour cells were positive for PAS diastase, toluidine blue, cytokeratins (CAM5.2, CK7), S-100 protein and GCDFP-15.”[10] Although some abnormal tumours cells were present, the recorded findings the man was diagnosed with chondroid syringoma.[10] An ultrasound and radiography were performed and revealed no indication of metastasis.[10] However, in 2008, the man observed inflammation in his right groin area.[10] Another ultrasound revealed a new mass also measuring 30 mm x 30mm, which was then excised.[10] Examination of this new tumour revealed more abnormal tumour cells compared to the first nodule of the sole of the foot.[10] The original diagnosis was thus re-examined to be consisting of malignant chondroid syringoma cells.[10] The patient was then treated with radiation.[10] After eighteen months he presented no evidence of recurrence or further distant metastasis.[10] ## History[edit] Hirsch and Helwig gave malignant chondroid syringoma its name in 1961 in ‘Chondroid Syringoma: Mixed Tumour of Skin, Salivary Gland Type.’[11] "Atypical mixed tumours of the skin,"(Hirsch and Helwig, 1961) their term for tumours characterised by "histological stigma of malignancy, local invasion, and satellite tumour nodules without proven metastases" is employed even now.[11] As of 2011, only 43 cases have been reported.[10] ## Terminology[edit] Malignant mixed tumours also go by other names including: "malignant mixed tumour of skin, cutaneous malignant mixed tumour, metastasising chondroid syringoma, and aggressive chondroid syringoma." (Ka, Gnangnon, and Diouf, 2016)[9] ## See also[edit] * List of cutaneous conditions * Neoplasm ## References[edit] 1. ^ a b James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0. 2. ^ a b c d e f g h i j Malik R, Saxena A, Kamath N (July 2013). "A rare case of malignant chondroid syringoma of scalp". Indian Dermatology Online Journal. 4 (3): 236–8. doi:10.4103/2229-5178.115533. PMC 3752488. PMID 23984246. 3. ^ a b c d e f g h i Garcia AM, Atun JM, Fernando G (2016). "Multifocal, recurrent malignant chondroid syringoma with visceral metastases: A case report and literature review". International Journal of Cancer Therapy and Oncology. 4: 4119. doi:10.14319/ijcto.41.19 – via Research Gate. 4. ^ a b c d e f g Mathiasen RA, Rasgon BM, Rumore G (August 2005). "Malignant chondroid syringoma of the face: a first reported case". Otolaryngology–Head and Neck Surgery. 133 (2): 305–7. doi:10.1016/j.otohns.2004.09.139. PMID 16087034. 5. ^ a b c d Sivamani R, Wadhera A, Craig E (September 2006). "Chondroid syringoma: case report and review of the literature". Dermatology Online Journal. 12 (5): 8. PMID 16962023. 6. ^ Obaidat NA, Alsaad KO, Ghazarian D (February 2007). "Skin adnexal neoplasms--part 2: an approach to tumours of cutaneous sweat glands". Journal of Clinical Pathology. 60 (2): 145–59. doi:10.1136/jcp.2006.041608. PMC 1860616. PMID 16882695. 7. ^ Steinmetz JC, Russo BA, Ginsburg RE (May 1990). "Malignant chondroid syringoma with widespread metastasis". Journal of the American Academy of Dermatology. 22 (5 Pt 1): 845–7. doi:10.1016/s0190-9622(08)81178-4. PMID 2161437. 8. ^ a b c d e f g h i j k l Tural D, Selçukbiricik F, Günver F, Karışmaz A, Serdengecti S (2013). "Facial localization of malignant chondroid syringoma: a rare case report". Case Reports in Oncological Medicine. 2013: 907980. doi:10.1155/2013/907980. PMC 3586475. PMID 23476847. 9. ^ a b c d e f Ka S, Gnangnon F, Diouf D, Dieng MM, Thiam J, Gaye M, Dem A (2016-01-01). "Malignant chondroid syringoma in a West African cancer institute: A case report". International Journal of Surgery Case Reports. 25: 137–8. doi:10.1016/j.ijscr.2016.06.029. PMC 4929341. PMID 27372026. 10. ^ a b c d e f g h i j k l m n o Watarai A, Amoh Y, Aki R, Takasu H, Katsuoka K (September 2011). "Malignant chondroid syringoma: report of a case with lymph node metastasis 12 years after local excision". Dermatology Online Journal. 17 (9): 5. PMID 21971270. 11. ^ a b c d e f g h i j Shashikala P, Chandrashekhar HR, Sharma S, Suresh KK (2004-05-01). "Malignant chondroid syringoma". Indian Journal of Dermatology, Venereology and Leprology. 70 (3): 175–6. PMID 17642601. 12. ^ a b c Metzler G, Schaumburg-Lever G, Hornstein O, Rassner G (February 1996). "Malignant chondroid syringoma: immunohistopathology". The American Journal of Dermatopathology. 18 (1): 83–9. doi:10.1097/00000372-199602000-00014. PMID 8721597. 13. ^ Lu H, Chen LF, Chen Q, Shen H, Liu Z (February 2018). "A rare large cutaneous chondroid syringoma involving a toe: A case report". Medicine. 97 (5): e9825. doi:10.1097/MD.0000000000009825. PMC 5805459. PMID 29384887. 14. ^ Chauvel-Picard J, Pierrefeu A, Harou O, Breton P, Sigaux N (June 2018). "Unusual cystic lesion of the eyebrow: A case report of malignant chondroid syringoma". Journal of Stomatology, Oral and Maxillofacial Surgery. 119 (3): 232–235. doi:10.1016/j.jormas.2018.02.008. PMID 29477759. [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-aminobutyric 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	Malignant chondroid syringoma	c1321781	26,446	wikipedia	https://en.wikipedia.org/wiki/Malignant_chondroid_syringoma	2021-01-18T18:30:25	{"umls": ["C1321781"], "wikidata": ["Q96391661"]}
Gerodermia osteodysplastica Other namesGeroderma osteodysplasticum and Walt Disney dwarfism[1] Gerodermia osteodysplastica has an autosomal recessive pattern of inheritance. SpecialtyMedical genetics Gerodermia osteodysplastica (GO), is a rare autosomal recessive[2] connective tissue disorder included in the spectrum of cutis laxa syndromes.[2][3] Usage of the name "Walt Disney dwarfism" is attributed to the first known case of the disorder, documented in a 1950 journal report, in which the authors described five affected members from a Swiss family as having the physical appearance of dwarves from a Walt Disney film.[4][5] The terms "geroderma" or "gerodermia" can be used interchangeably with "osteodysplastica" or "osteodysplasticum", with the term "hereditaria" sometimes appearing at the end.[1][6] ## Contents * 1 Presentation * 2 Genetics * 3 Diagnosis * 3.1 Differential diagnosis * 4 Treatment * 5 See also * 6 References * 7 External links ## Presentation[edit] Gerodermia osteodysplastica is characterized by symptoms and features which affect the connective tissues, skin and skeletal system.[citation needed] These are: wrinkly, loose skin over the face, abdomen, and extremities (hands, feet) on the dorsal sides usually worsened by chronic joint laxity and hyperextensibility;[7][8] fragmented elastic fibers of the skin that are reduced in number, with disorientation of collagen fibers;[9] osteopenia and osteoporosis, with associated fractures;[6][7] malar hypoplasia (underdeveloped cheek bone),[10] maxillary hypoplasia (underdeveloped upper jaw),[6] mandibular prognathism (protrusion of the lower jaw and chin),[10][11] bowed long bones,[6] platyspondyly (flattened spine) related to vertebral collapse;[6][12] kyphoscoliosis (scoliosis with kyphosis, or "hunch back"),[12] metaphyseal peg (an unusual outgrowth of metaphyseal tissue which protrudes into the epiphyseal region of the bone, near the knee);[13] and the overall physical effects and facial appearance of dwarfism with premature aging.[5][14] Other features and findings include: intrauterine growth retardation,[8] congenital hip dislocations,[8] winged scapulae (shoulder blades),[12] pes planus (fallen arches),[12] pseudoepiphyses of the second metacarpals (upper bone of the fingers),[12] hypotelorism (close-set eyes),[7] malformed ears,[14] developmental delay,[8] failure to thrive[7] and abnormal electroencephalograph (EEG) readings.[14] Dental and orthodontal abnormalities in addition to maxillary hypoplasia and mandibular prognathism have also been observed in gerodermia osteodysplastica. Including malocclusion of the dental arches (the maxilla and mandible),[12] radiological findings in some cases have indicated significant overgrowth of the mandibular premolar and molar roots;[11] hypercementosis (overproduction of cementum) of the molars and maxillary incisors;[11] enlarged, funnel-shaped mandibular lingula (spiny structures on the ramus of the mandible);[11] and a radiolucent effect on portions of many teeth, increasing their transparency to x-rays.[11] ## Genetics[edit] Originally believed to be inherited in an X-linked recessive fashion,[15] gerodermia osteodysplastica is now known to display strictly autosomal recessive inheritance.[3] This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.[citation needed] It has been associated with SCYL1BP1.[16] ## Diagnosis[edit] ### Differential diagnosis[edit] Many features of gerodermia osteodysplastica (GO) and another autosomal recessive form of cutis laxa, wrinkly skin syndrome (WSS, Online Mendelian Inheritance in Man (OMIM): 278250), are similar to such an extent that both disorders were believed to be variable phenotypes of a single disorder.[7][8] Several delineating factors, however, suggest that gerodermia osteodysplastica and wrinkly skin syndrome are distinct entities, but share the same clinic spectrum.[6][8] While the prevailing feature of wrinkly, loose skin is more localized with GO, it is usually systemic, yet eases in severity with age during the course of WSS.[6] Also, as the fontanelles ("soft spots") are usually normal on the heads of infants with GO, they are often enlarged in WSS infants.[6] While WSS is associated with mutations of genes on chromosomes 2, 5, 7, 11 and 14; GO has been linked to mutations in the protein GORAB.[17] A serum sialotransferrin type 2 pattern, also observed with WSS, is not present in GO patients.[6] But perhaps the most notable feature, differentiating GO from WSS and similar cutis laxa disorders, is the age-specific metaphyseal peg sometimes found in GO-affected long bone, near the knee.[13] Not appearing until around age 4–5, then disappearing by physeal closure, this oddity of bone is thought to represent a specific genetic marker unique to GO and its effects on bone development.[13] ## Treatment[edit] This section is empty. You can help by adding to it. (July 2017) ## See also[edit] * Ehlers-Danlos syndrome * Progeria * Skeletal dysplasia ## References[edit] 1. ^ a b Online Mendelian Inheritance in Man (OMIM): 231070 2. ^ a b Paul R, Kapoor S, Puri R, Bijarnia S (Dec 2004). "Gerodermia Osteodysplastica". Indian J. Pediatr. 71 (12): e77–79. PMID 15630332. 3. ^ a b Nappi C, Greco E, Anichini C, Guerra G, Di Spiezio Sardo A (Jan 2008). "Pregnancy in a gerodermia ostedysplastica patient: a case report". Am. J. Obstet. Gynecol. 198 (1): e17–19. doi:10.1016/j.ajog.2007.09.037. PMID 18166294. 4. ^ Bamatter F, Franceschetti A, Klein D, Sierro A (1950). "Gerodermie osteodysplastique hereditaire". Annales Paediatrici. 174 (4): 126–127. doi:10.1177/0011128707308160. S2CID 140963177. 5. ^ a b Hunter AG, Martsolf JT, Baker CG, Reed MH (Feb 1978). "Geroderma osteodysplastica. A report on two affected families". Hum. Genet. 40 (3): 311–324. doi:10.1007/BF00272192. PMID 631850. S2CID 19438949. 6. ^ a b c d e f g h i Rajab A, Kornak U, Budde BS, Hoffmann K, Jaeken J, Nürnberg P, Mundlos S (Apr 2008). "Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman". Am. J. Med. Genet. A. 146A (8): 965–976. doi:10.1002/ajmg.a.32143. PMID 18348262. S2CID 25583401. 7. ^ a b c d e Al-Gazali LI, Sztriha L, Skaff F, Haas D (Jul 2001). "Gerodermia osteodysplastica and wrinkly skin syndrome: are they the same?". Am. J. Med. Genet. 101 (3): 213–220. doi:10.1002/ajmg.1352. ISSN 0148-7299. PMID 11424136. 8. ^ a b c d e f Nanda A, Alsaleh QA, Al-Sabah H, Marzouk EE, Salam AM, Nanda M, Anim JT (Jan 2008). "Gerodermia osteodysplastica/wrinkly skin syndrome: report of three patients and brief review of the literature". Pediatr. Dermatol. 25 (1): 66–71. doi:10.1111/j.1525-1470.2007.00586.x. PMID 18304158. 9. ^ Boente Mdel C, Asial RA, Winik BC (Sep–Oct 2006). "Geroderma osteodysplastica. Report of a new family". Pediatr. Dermatol. 23 (5): 467–472. doi:10.1111/j.1525-1470.2006.00285.x. PMID 17014644. 10. ^ a b Hunter AG (Dec 1988). "Is geroderma osteodysplastica underdiagnosed?". J. Med. Genet. 25 (12): 854–857. doi:10.1136/jmg.25.12.854. PMC 1051618. PMID 3236370. 11. ^ a b c d e Lustmann J, Nahlielio O, Harary D, Casap N, Neder A, Zlotogora J (Aug 1993). "Gerodermia osteodysplastica: report on two patients and surgical correction of facial deformity". Am. J. Med. Genet. 47 (2): 261–267. doi:10.1002/ajmg.1320470224. PMID 8213917. 12. ^ a b c d e f Lisker R, Hernández A, Martínez-Lavin M, Mutchinick O, Armas C, Reyes P, Robles-Gil J (1979). "Gerodermia osteodysplastica hereditaria: report of three affected brothers and literature review". Am. J. Med. Genet. 3 (4): 389–395. doi:10.1002/ajmg.1320030410. PMID 474638. 13. ^ a b c Eich GF, Steinmann B, Hodler J, Exner GU, Giedion A (May 1996). "Metaphyseal peg in geroderma osteodysplasticum: a new genetic bone marker and a specific finding?". Am. J. Med. Genet. 63 (1): 62–67. doi:10.1002/(SICI)1096-8628(19960503)63:1<62::AID-AJMG13>3.0.CO;2-S. PMID 8723088. 14. ^ a b c al-Torki NA, al-Awadi SA, Chindro-Heberie L, Sabry MA (Jan 1997). "Gerodermia osteodysplastica in a Bedouin sibship: further delineation of the syndrome". Clin. Dysmorphol. 6 (1): 51–55. doi:10.1097/00019605-199701000-00009. PMID 9018419. S2CID 42731705. 15. ^ Boreux, G (May 1969). "Osteodysplasic geroderma of sex-linked heredity, a new clinical and genetic entity" [Osteodysplasic geroderma of sex-linked heredity, a new clinical and genetic entity]. Journal de génétique humaine (in French). 17 (1): 137–78. ISSN 0021-7743. PMID 4980119. 16. ^ Hennies HC, Kornak U, Zhang H, et al. (December 2008). "Gerodermia osteodysplastica is caused by mutations in SCL1BP1, a Rab-6 interacting golgin". Nat. Genet. 40 (12): 1410–2. doi:10.1038/ng.252. PMC 3122266. PMID 18997784. 17. ^ Hennies, Hans Christian; Kornak, Uwe; Zhang, Haikuo; Egerer, Johannes; Zhang, Xin; Seifert, Wenke; Kühnisch, Jirko; Budde, Birgit; Nätebus, Marc (December 2008). "Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin". Nature Genetics. 40 (12): 1410–1412. doi:10.1038/ng.252. ISSN 1546-1718. PMC 3122266. PMID 18997784. ## External links[edit] Classification D * ICD-10: Q82.9 * ICD-9-CM: 710.9 * OMIM: 231070 * MeSH: C537799 C537799, C537799 * DiseasesDB: 32101 External resources * Orphanet: 2078 * v * t * e Congenital malformations and deformations of integument / skin disease Genodermatosis Congenital ichthyosis/ erythrokeratodermia AD * Ichthyosis vulgaris AR * Congenital ichthyosiform erythroderma: Epidermolytic hyperkeratosis * Lamellar ichthyosis * Harlequin-type ichthyosis * Netherton syndrome * Zunich–Kaye syndrome * Sjögren–Larsson syndrome XR * X-linked ichthyosis Ungrouped * Ichthyosis bullosa of Siemens * Ichthyosis follicularis * Ichthyosis prematurity syndrome * Ichthyosis–sclerosing cholangitis syndrome * Nonbullous congenital ichthyosiform erythroderma * Ichthyosis linearis circumflexa * Ichthyosis hystrix EB and related * EBS * EBS-K * EBS-WC * EBS-DM * EBS-OG * EBS-MD * EBS-MP * JEB * JEB-H * Mitis * Generalized atrophic * JEB-PA * DEB * DDEB * RDEB * related: Costello syndrome * Kindler syndrome * Laryngoonychocutaneous syndrome * Skin fragility syndrome Ectodermal dysplasia * Naegeli syndrome/Dermatopathia pigmentosa reticularis * Hay–Wells syndrome * Hypohidrotic ectodermal dysplasia * Focal dermal hypoplasia * Ellis–van Creveld syndrome * Rapp–Hodgkin syndrome/Hay–Wells syndrome Elastic/Connective * Ehlers–Danlos syndromes * Cutis laxa (Gerodermia osteodysplastica) * Popliteal pterygium syndrome * Pseudoxanthoma elasticum * Van der Woude syndrome Hyperkeratosis/ keratinopathy PPK * diffuse: Diffuse epidermolytic palmoplantar keratoderma * Diffuse nonepidermolytic palmoplantar keratoderma * Palmoplantar keratoderma of Sybert * Meleda disease * syndromic * connexin * Bart–Pumphrey syndrome * Clouston's hidrotic ectodermal dysplasia * Vohwinkel syndrome * Corneodermatoosseous syndrome * plakoglobin * Naxos syndrome * Scleroatrophic syndrome of Huriez * Olmsted syndrome * Cathepsin C * Papillon–Lefèvre syndrome * Haim–Munk syndrome * Camisa disease * focal: Focal palmoplantar keratoderma with oral mucosal hyperkeratosis * Focal palmoplantar and gingival keratosis * Howel–Evans syndrome * Pachyonychia congenita * Pachyonychia congenita type I * Pachyonychia congenita type II * Striate palmoplantar keratoderma * Tyrosinemia type II * punctate: Acrokeratoelastoidosis of Costa * Focal acral hyperkeratosis * Keratosis punctata palmaris et plantaris * Keratosis punctata of the palmar creases * Schöpf–Schulz–Passarge syndrome * Porokeratosis plantaris discreta * Spiny keratoderma * ungrouped: Palmoplantar keratoderma and spastic paraplegia * desmoplakin * Carvajal syndrome * connexin * Erythrokeratodermia variabilis * HID/KID Other * Meleda disease * Keratosis pilaris * ATP2A2 * Darier's disease * Dyskeratosis congenita * Lelis syndrome * Dyskeratosis congenita * Keratolytic winter erythema * Keratosis follicularis spinulosa decalvans * Keratosis linearis with ichthyosis congenita and sclerosing keratoderma syndrome * Keratosis pilaris atrophicans faciei * Keratosis pilaris Other * cadherin * EEM syndrome * immune system * Hereditary lymphedema * Mastocytosis/Urticaria pigmentosa * Hailey–Hailey see also Template:Congenital malformations and deformations of skin appendages, Template:Phakomatoses, Template:Pigmentation disorders, Template:DNA replication and repair-deficiency disorder Developmental anomalies Midline * Dermoid cyst * Encephalocele * Nasal glioma * PHACE association * Sinus pericranii Nevus * Capillary hemangioma * Port-wine stain * Nevus flammeus nuchae Other/ungrouped * Aplasia cutis congenita * Amniotic band syndrome * Branchial cyst * Cavernous venous malformation * Accessory nail of the fifth toe * Bronchogenic cyst * Congenital cartilaginous rest of the neck * Congenital hypertrophy of the lateral fold of the hallux * Congenital lip pit * Congenital malformations of the dermatoglyphs * Congenital preauricular fistula * Congenital smooth muscle hamartoma * Cystic lymphatic malformation * Median raphe cyst * Melanotic neuroectodermal tumor of infancy * Mongolian spot * Nasolacrimal duct cyst * Omphalomesenteric duct cyst * Poland anomaly * Rapidly involuting congenital hemangioma * Rosenthal–Kloepfer syndrome * Skin dimple * Superficial lymphatic malformation * Thyroglossal duct cyst * Verrucous vascular malformation * Birthmark [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-aminobutyric 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	Gerodermia osteodysplastica	c0432255	26,447	wikipedia	https://en.wikipedia.org/wiki/Gerodermia_osteodysplastica	2021-01-18T18:33:29	{"gard": ["413"], "mesh": ["C537799"], "umls": ["C0432255"], "icd-9": ["710.9"], "icd-10": ["Q82.9"], "orphanet": ["2078"], "wikidata": ["Q5552374"]}
Although galactose and mannose will replace glucose as the major carbon and energy source in Eagle's minimal essential medium for culture of human cells, cells degenerate the same as in glucose-free medium when fructose is substituted for glucose. Although the nature of the mutation was not understood, Cox and Masson (1974) could select for human cell lines capable of utilizing fructose. X-irradiation increased the frequency of the fructose-plus phenotype. Misc \- Cultured cells unable to use fructose for glucose 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-aminobutyric 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	FRUCTOSE UTILIZATION	None	26,448	omim	https://www.omim.org/entry/229650	2019-09-22T16:27:42	{"omim": ["229650"]}
The Sangrampur methanol poisonings occurred when a methanol-tainted batch of illegal alcohol killed 143 people at Sangrampur village in Magrahat I CD Block of Diamond Harbour subdivision in December 2011, affecting mainly manual workers of South 24 Parganas district in the Indian state of West Bengal.[1] ## Contents * 1 The incident * 2 Official response * 3 See also * 4 References ## The incident[edit] Victims around South 24 Parganas district started becoming sick on December 13th, 2011, after drinking a home-brewed alcoholic beverage known as chepti. The drinks contained methanol, a highly toxic chemical which, when ingested, can lead to blindness or death. On December 14th, victims admitted to hospitals complained about stomach pain, diarrhea and breathing problems. Within 48 hours, the death toll rose to 143, and many more were in critical condition. Most who died were manual laborers and others of low socio-economic class, who bought the liquor at illegal bars called thekas.[1][2] Later the death number rose to 156 people.[3] ## Official response[edit] The Government of West Bengal paid $ 4,000 to the family of each victim, and arrested seven people for distributing the liquor. 10 illegal liquor shops in Diamond Harbour subdivision, one of the affected communities, were shut down by the police as well.[1] ## See also[edit] * List of alcohol poisonings in India ## References[edit] 1. ^ a b c Magnier, Mark (15 December 2011). "Bootleg liquor laced with methanol kills 143 people in India". Los Angeles Times. Toronto. Retrieved 16 May 2012. 2. ^ "Tainted bootleg booze kills 143 in India". CBS News. December 15, 2011. Retrieved 24 February 2013. 3. ^ "West Bengal hooch deaths rise to 156". Mid-day.com. 2011-12-16. Retrieved 2012-08-10. [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-aminobutyric 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	Sangrampur methanol poisonings	None	26,449	wikipedia	https://en.wikipedia.org/wiki/Sangrampur_methanol_poisonings	2021-01-18T19:05:25	{"wikidata": ["Q16000889"]}
This article needs more medical references for verification or relies too heavily on primary sources. Please review the contents of the article and add the appropriate references if you can. Unsourced or poorly sourced material may be challenged and removed. Find sources: "Sinonasal undifferentiated carcinoma" – news · newspapers · books · scholar · JSTOR (August 2017) Sinonasal undifferentiated carcinoma Micrograph of a SNUC. H&E stain. SpecialtyENT surgery Sinonasal undifferentiated carcinoma (SNUC) is a rare aggressive type of cancer that arises from epithelium or lining of the nose or sinuses.[1] ## Contents * 1 Signs and symptoms * 2 Pathology * 3 Diagnosis * 4 Treatment * 5 Prognosis * 6 See also * 7 References * 8 External links ## Signs and symptoms[edit] In most cases, symptoms present themselves at an advanced stage of disease. They can include but are not limited to: * Nosebleed * Nasal obstruction * Proptosis (displacement of the eye) * Vision changes * Headache ## Pathology[edit] The underlying mechanism is unknown, however, Gelbard et al. studied 12 oncogenes or known tumor suppressor gene “hotspots” where mutations in these regions are known to cause other types of neurocarcinomas. They also studied Single nucleotide polymorphisms (SNPs) located in Vascular endothelial growth factor (VEGF) in order to find sites for finely targeted therapeutics. Spectroscopy-based research done in this study identified 95 common mutations within the 12 hotspots. Of the 95 SNPs none presented a genotype that was an activating mutation. * Low mag. * High mag. ## Diagnosis[edit] SNUC is a rare and aggressive type of cancer originating in the epithelial layer of the nasal cavity or paranasal sinuses. It was first diagnosed in 1987. The aggressive nature of the cancer coupled with the advanced stage of disease upon presentation lead to a poor survival rate. Although the molecular nature of the mutation that causes SNUC is still poorly understood, clinical treatment has shown that multimodality treatment has been the most successful option. ## Treatment[edit] Published findings on SNUC suggest that multimodality treatment, or multiple processes combined into a single treatment strategy, gives patients the best possible chance for survival. Varying combinations of and length between surgery, radiation, and chemotherapy have been tested. Findings from Mendenhall et al. suggest that surgery plus radiotherapy and concominant chemotherapy is more efficient than radiotherapy combined with induced or maintenance chemotherapy. ## Prognosis[edit] In a Meta-analysis study to conglomerate findings regarding 28 published papers including 158 patients presenting SNUC following up with patients for an average of 14 months showed that at the time of last follow up 25% of patients were alive with no evidence of the disease, 22.4% were alive with presence of the disease, and 52.6% were deceased due to the disease. ## See also[edit] * Head and neck cancer * Nasal cavity ## References[edit] 1. ^ "Sinonasal undifferentiated carcinoma \| Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 18 November 2019. ## External links[edit] Classification D * MeSH: C537344 [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-aminobutyric 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	Sinonasal undifferentiated carcinoma	c1710096	26,450	wikipedia	https://en.wikipedia.org/wiki/Sinonasal_undifferentiated_carcinoma	2021-01-18T18:42:41	{"gard": ["9249"], "mesh": ["C537344"], "umls": ["C1710096"], "wikidata": ["Q7524910"]}
A rare disorder characterized by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development. ## Epidemiology The incidence is estimated at between 1 and 1.6/100,000 live births. Boys are more often affected than girls. ## Clinical description Onset occurs between 3 and 7 months of age in 50-70% of cases. Onset at birth or in older infants and children (up to the age of 5) is much less common. The spasms consist of sudden axial flexion or, more often, extension movements and may be associated with ocular deviation. The contractions are most visible in the upper limbs and are frequently followed by crying. However, the spasm may be restricted to an upwards ocular deviation. A cerebral malformation should be considered in the presence of asymmetry. The spasms occur in a series, separated by intervals of 5-30 seconds, and may last for more than 10 minutes. The spasms become more intense as the series progresses. The EEG pattern of the spasms consists of a high-amplitude and diphasic slow wave. The interictal EEG pattern is described as hypsarrhythmic as it is characterised by asynchronous and high-amplitude slow waves and multifocal spikes. Both fast and slow variants, depending on the aetiology, have been reported. ## Etiology The aetiology of the syndrome is variable. Cerebral anomalies are detected in 70-80% of cases. The most common causes of these anomalies are malformations (most frequently tuberous sclerosis (Bourneville disease), or sequelae of ischemia or meningoencephalitis), a genetic anomaly (such as trisomy 21, the 1p36 deletion or mutations in the ARX or STK9 genes) or a metabolic disease (such as a mitochondrial disorder or phenylketonuria). Around 10% of cases of West syndrome are idiopathic: in these infants psychomotor development is normal before onset of the spasms and the contractions and hypsarrhythmia are symmetric and respond to medication. The remaining 10-20% of cases are cryptogenic and probably associated with an anomaly that has not yet been detected. ## Diagnostic methods Diagnosis is based on the clinical picture and EEG pattern. ## Differential diagnosis The differential diagnosis may be problematic and should include Sandifier syndrome, benign myoclonus, hyperekplexia (see these terms), gastro-oesophageal reflux and breath holding spells. ## Genetic counseling Genetic counselling may be useful depending on the aetiology. ## Management and treatment Treatment is pharmacological. The two most effective treatments are vigabatrin (often used as the first-line treatment) and corticoids (used when treatment with vigabatrin fails). Treatment should begin as early as possible to limit the cognitive deficit caused by the epilepsy. Surgical intervention is only used in cases with localised cerebral lesions. ## Prognosis The prognosis varies depending on the aetiology and speed with which treatment is initiated. Even after a first response to treatment, reoccurrence occurs within 6 months in 30% of cases. The spasms tend to resolve after 5 years of age but reoccurrences have been reported. Motor, sensorial or mental sequelae are present in 75% of infants and the epilepsy is resistant to medication in 50-60% of cases. [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-aminobutyric 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	West syndrome	c0037769	26,451	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3451	2021-01-23T17:49:54	{"gard": ["7887"], "mesh": ["D013036"], "omim": ["300672", "308350", "613477", "613722", "615006", "616139", "616341", "617065", "617929", "618298"], "umls": ["C0037769"], "icd-10": ["G40.4"], "synonyms": ["Infantile spasms", "Intellectual disability-hypsarrhythmia syndrome"]}
Castriota-Scanderbeg et al. (1999) presented a southern Italian girl in whom the most striking manifestations were short stature and changes in the bones of the hands and feet (acrodysplasia) with severe brachydactyly and severe ossification delay. Other findings included fibular hypoplasia, epiphyseal changes at multiple sites, and characteristic changes of the spine and pelvis. The parents were first cousins, suggesting autosomal recessive inheritance. Some of the radiologic features were similar to those demonstrated by 3 brothers, who also had consanguineous parents, reported by Eiken et al. (1984). Because of distinctive features in their case and in the cases of Eiken et al. (1984), Castriota-Scanderbeg et al. (1999) suggested that these families had similar, but probably different, disorders. [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-aminobutyric 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	ACRODYSPLASIA WITH OSSIFICATION ABNORMALITIES, SHORT STATURE, AND FIBULAR HYPOPLASIA	c1863556	26,452	omim	https://www.omim.org/entry/603740	2019-09-22T16:12:42	{"mesh": ["C538181"], "omim": ["603740"]}
## Clinical Features Senior (1971) described 6 'short children with tiny fingernails.' Pre- and postnatal short stature, hypoplastic fifth digits with abnormal phalanges and tiny fingernails, facial dysmorphism, and, in some, mild intellectual impairment were observed. Mace and Gotlin (1973) reported a single case. As noted in connection with the Coffin-Siris syndrome (CSS; 135900), the condition reported by Senior (1971) resembles that disorder except that mental retardation is milder. Verloes et al. (1993) reported 3 unrelated children with intrauterine proportionate growth retardation and facial dysmorphism (broad nose, flat malar area, large mouth, pointed chin), microcephaly, hypo/aplasia of the terminal fifth digits, and normal or only mildly reduced intelligence. Radiologic findings included hypo/aplasia or fusion of the distal phalanges of the fifth finger and toe, brachymesophalangism V, and nail dysplasia or aplasia. One of the 3 children had cystic adenomatoid disease of the lung. This disorder may be a mild form of Coffin-Siris syndrome or an independent entity. Verloes et al. (1993) suggested that it be called the brachymorphism-onychodysplasia-dysphalangism syndrome (BOD syndrome) because 'Senior syndrome' runs the risk of confusion with the Senior-Loken syndrome (266900). Brautbar et al. (2009) described a 7-year-old girl with hypoplastic nails, especially on the fifth digit of each extremity, which were more noticeable on the feet, coarse face, broad nose, wide mouth, thick eyebrows, long eyelashes, accommodative esotropia, inguinal and umbilical hernia, large premium atrial septal defect and cleft mitral valve, hirsutism, and mild developmental delay. Brautbar et al. (2009) suggested that even though the patient met the minimal clinical diagnostic criteria of Coffin-Siris syndrome, some features, such as mild developmental delay and the more severe involvement of the feet when compared to the hands, are more consistent with BOD syndrome. Brautbar et al. (2009) suggested that CSS and BOD syndrome are probably allelic disorders. Molecular Genetics See 604958 for discussion of a possible association between variation in the ACTL6A gene and the disorder in the patient described by Brautbar et al. (2009). Radiology \- Hypo/aplasia or fusion of the distal phalanges of the fifth finger and toe \- Brachymesophalangism V Limbs \- Hypo/aplasia of terminal fifth digits \- Abnormal phalanges Growth \- Pre- and postnatal short stature Neuro \- Normal or only mildly reduced intelligence Facies \- Facial dysmorphism \- Broad nose \- Flat malar area \- Large mouth \- Pointed chin Inheritance \- Autosomal dominant Pulmonary \- Cystic adenomatoid lung disease Nails \- Nail dysplasia/aplasia \- Tiny fingernails Head \- Microcephaly ▲ 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-aminobutyric 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	BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME	c1862082	26,453	omim	https://www.omim.org/entry/113477	2019-09-22T16:43:57	{"mesh": ["C536242"], "omim": ["113477"], "orphanet": ["1292"], "synonyms": ["Alternative titles", "BOD SYNDROME"]}
## Clinical Features Iwasawa et al. (1991) described a congenital curved nail of the fourth toe in 5 children, 3 of whom were sibs. No definitely identical condition was found in the literature. Egawa (1977) described a 22-year-old woman and her 14-year-old brother who had claw-like deformities of the fourth and fifth fingers and fourth toes. In the case of the fifth fingers, the fingernail was tubular, covering both the dorsal and palmar sides of the distal phalanx. A similar change was found in the toes. Soft tissue was missing from the tips of these fingers and toes. Similar findings were reported by Miura (1978) in 2 unrelated Japanese families, one with affected brother and sister and the other with 2 affected brothers. The terminal phalanx was shorter, shaped like a miniature spear, lacked a crescent-shaped cap, and, at the distal third, had a blunt, Y-shaped bony projection. Inheritance Miura (1978) favored autosomal recessive inheritance. Nails \- Congenital curved nail, fourth toe \- Claw-like fourth and fifth fingers \- Claw-like fourth toes \- Tubular nails, fifth fingers \- Tubular nails, fifth toes Radiology \- Terminal phalanges short \- No crescent-shaped cap of terminal phalanges \- Blunt, Y-shaped bony projection of distal phalanges Limbs \- Short, spear-shaped terminal phalanges 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-aminobutyric 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	CURVED NAIL OF FOURTH TOE	c1857452	26,454	omim	https://www.omim.org/entry/219070	2019-09-22T16:29:10	{"omim": ["219070"], "synonyms": ["Alternative titles", "CLAW-LIKE FINGERS AND TOES"]}
## Description Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013). For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (105650). Mapping Gazda et al. (2001) analyzed 14 multiplex DBA families, 9 of which had 19q13.2 haplotypes inconsistent with 19q linkage. A genomewide search for a linked locus suggested the presence of a DBA locus on 8p. The authors ascertained another 24 DBA families and analyzed all 38 families with additional polymorphic markers on 8p. In total, 18 of 38 families were consistent with linkage to 8p with a maximum lod score with heterogeneity of 3.55 at D8S277 assuming 90% penetrance. The results indicated the existence of a second DBA locus on 8p23.3-p22, most likely within an 8.1-cM interval flanked by D8S518 and D8S1825. Seven families were inconsistent with linkage to either 8p or 19q, thus suggesting further genetic heterogeneity. [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-aminobutyric 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	DIAMOND-BLACKFAN ANEMIA 2	c1260899	26,455	omim	https://www.omim.org/entry/606129	2019-09-22T16:10:46	{"doid": ["1339"], "mesh": ["D029503"], "omim": ["606129"], "orphanet": ["124"], "genereviews": ["NBK7047"]}
Chronic mucocutaneous candidiasis Other namesCMC[1] This condition is due to T-cells(immune) disorder SpecialtyInfectious disease, dermatology SymptomsSkin ulcer[2] TypesCANDF1,2,3,4,5,6,7,8 and 9j Diagnostic methodThyroid function test, Liver function test[3][4] TreatmentSystemic antifungal therapy[4] Chronic mucocutaneous candidiasis is an immune disorder of T cells,[4] it is characterized by chronic infections with Candida that are limited to mucosal surfaces, skin, and nails.[5]:310 It can also be associated with other types of infections, such as human papilloma virus. An association with chromosome 2 has been identified.[medical citation needed] ## Contents * 1 Symptoms and signs * 2 Cause * 3 Mechanism * 4 Diagnosis * 4.1 Types * 5 Treatment * 6 See also * 7 Notes * 8 References * 9 Further reading * 10 External links ## Symptoms and signs[edit] The symptoms of this condition are hyperkeratosis, skin ulcer, dyspareunia, endocardium abnormality, vision problems, hepatitis, seizures, hematuria and meningitis.[2] ## Cause[edit] Chronic mucocutaneous candidiasis can be inherited either autosomal dominant or autosomal recessive.[1] There are 9 types of this condition with the first CANDF1 being located at 2p22.3-p21 (cytogenetically).[6] ## Mechanism[edit] The mechanism of the human immune system has it normally fighting in an infection (like Candida). Initially Th17 cells are made by the immune system, which in turn produces interleukin-17 (IL-17). Inflammation is induced and white blood cells confront infection.[7] Chronic mucocutaneous candidiasis mutations affect IL-17 by inhibiting its pathway. This in turn affects the human immune systems ability to fight infection, in total there are 9 possible types of this condition.[7][8] ## Diagnosis[edit] Chronic mucocutaneous candidiasis can be diagnosed in an affected individual via the following methods/tests:[3][4] * Thyroid function test * Liver function test * Cellular immunity test * Skin biopsy * Genetic testing Stat1(CANDF7 mutation on Chromosome 2q32) ### Types[edit] CHR 2 Type OMIMα Gene Locus CANDF1 114580 \- 2p CANDF2 212050 CARD9 9q34.3 CANDF3 607644 \- 11 CANDF4 613108 CLEC7A 12p13.2-p12.3 CANDF5 613953 IL17RA 22q11 CANDF6 613956 IL17F 6p12 CANDF7 614162 STAT1 2q32 CANDF8 615527 TRAF3IP2 6q21 CANDF9 616445 IL17RC 3q25 ## Treatment[edit] Fluconazole Management for an individual with chronic mucocutaneous candidiasis consists of the following (relapse occurs once treatment is ceased, in many cases):[4][9] * Systemic antifungal therapy(e.g. Fluconazole) * Transfer factor * Combination therapy * Screening (annually) ## See also[edit] * Candidiasis * List of cutaneous conditions ## Notes[edit] ^ Indicates 9 references to specific, numbered pages in the Online Mendelian Inheritance in Man database. ## References[edit] 1. ^ a b RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Chronic mucocutaneous candidiasis". www.orpha.net. Retrieved 2017-06-09. 2. ^ a b "Candidiasis familial chronic mucocutaneous, autosomal recessive \| Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2017-06-09. 3. ^ a b "Familial chronic mucocutaneous candidiasis - Conditions - GTR - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2017-06-09. 4. ^ a b c d e "Chronic Mucocutaneous Candidiasis: Background, Pathophysiology, Epidemiology". Medscape. 3 May 2017. Retrieved 8 June 2017. 5. ^ James, William D.; Berger, Timothy G. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6. 6. ^ "OMIM Entry - % 114580 - CANDIDIASIS, FAMILIAL, 1; CANDF1". omim.org. Retrieved 9 June 2017. 7. ^ a b Reference, Genetics Home. "familial candidiasis". Genetics Home Reference. Retrieved 2017-06-09. 8. ^ Smeekens, Sanne P; van de Veerdonk, Frank L; Kullberg, Bart Jan; Netea, Mihai G (2013). "Genetic susceptibility to Candida infections". EMBO Molecular Medicine. 5 (6): 805–813. doi:10.1002/emmm.201201678. ISSN 1757-4676. PMC 3779444. PMID 23629947. 9. ^ Teng, Joyce; Marqueling, Ann L.; Benjamin, Latanya (2016-12-15). Therapy in Pediatric Dermatology: Management of Pediatric Skin Disease. Springer. p. 265. ISBN 9783319436302. ## Further reading[edit] * Kauffman, Carol A.; Pappas, Peter G.; Sobel, Jack D.; Dismukes, William E. (2011). Essentials of Clinical Mycology. Springer Science & Business Media. ISBN 9781441966407. Retrieved 9 June 2017. * Ostler, H. Bruce (2004). Diseases of the Eye and Skin: A Color Atlas. Lippincott Williams & Wilkins. ISBN 9780781749992. Retrieved 9 June 2017. ## External links[edit] Classification D * ICD-10: B37.0, B37.1 B37.2, B37.3, B37.4, B37.8 * OMIM: 607644 114580 212050 * MeSH: D002178 External resources * eMedicine: derm/569 * Orphanet: 1334 Scholia has a topic profile for Chronic mucocutaneous candidiasis. * v * t * e Fungal infection and mesomycetozoea Superficial and cutaneous (dermatomycosis): Tinea = skin; Piedra (exothrix/ endothrix) = hair Ascomycota Dermatophyte (Dermatophytosis) By location * Tinea barbae/tinea capitis * Kerion * Tinea corporis * Ringworm * Dermatophytids * Tinea cruris * Tinea manuum * Tinea pedis (athlete's foot) * Tinea unguium/onychomycosis * White superficial onychomycosis * Distal subungual onychomycosis * Proximal subungual onychomycosis * Tinea corporis gladiatorum * Tinea faciei * Tinea imbricata * Tinea incognito * Favus By organism * Epidermophyton floccosum * Microsporum canis * Microsporum audouinii * Trichophyton interdigitale/mentagrophytes * Trichophyton tonsurans * Trichophyton schoenleini * Trichophyton rubrum * Trichophyton verrucosum Other * Hortaea werneckii * Tinea nigra * Piedraia hortae * Black piedra Basidiomycota * Malassezia furfur * Tinea versicolor * Pityrosporum folliculitis * Trichosporon * White piedra Subcutaneous, systemic, and opportunistic Ascomycota Dimorphic (yeast+mold) Onygenales * Coccidioides immitis/Coccidioides posadasii * Coccidioidomycosis * Disseminated coccidioidomycosis * Primary cutaneous coccidioidomycosis. Primary pulmonary coccidioidomycosis * Histoplasma capsulatum * Histoplasmosis * Primary cutaneous histoplasmosis * Primary pulmonary histoplasmosis * Progressive disseminated histoplasmosis * Histoplasma duboisii * African histoplasmosis * Lacazia loboi * Lobomycosis * Paracoccidioides brasiliensis * Paracoccidioidomycosis Other * Blastomyces dermatitidis * Blastomycosis * North American blastomycosis * South American blastomycosis * Sporothrix schenckii * Sporotrichosis * Talaromyces marneffei * Talaromycosis Yeast-like * Candida albicans * Candidiasis * Oral * Esophageal * Vulvovaginal * Chronic mucocutaneous * Antibiotic candidiasis * Candidal intertrigo * Candidal onychomycosis * Candidal paronychia * Candidid * Diaper candidiasis * Congenital cutaneous candidiasis * Perianal candidiasis * Systemic candidiasis * Erosio interdigitalis blastomycetica * C. auris * C. glabrata * C. lusitaniae * C. tropicalis * Pneumocystis jirovecii * Pneumocystosis * Pneumocystis pneumonia Mold-like * Aspergillus * Aspergillosis * Aspergilloma * Allergic bronchopulmonary aspergillosis * Primary cutaneous aspergillosis * Exophiala jeanselmei * Eumycetoma * Fonsecaea pedrosoi/Fonsecaea compacta/Phialophora verrucosa * Chromoblastomycosis * Geotrichum candidum * Geotrichosis * Pseudallescheria boydii * Allescheriasis Basidiomycota * Cryptococcus neoformans * Cryptococcosis * Trichosporon spp * Trichosporonosis Zygomycota (Zygomycosis) Mucorales (Mucormycosis) * Rhizopus oryzae * Mucor indicus * Lichtheimia corymbifera * Syncephalastrum racemosum * Apophysomyces variabilis Entomophthorales (Entomophthoramycosis) * Basidiobolus ranarum * Basidiobolomycosis * Conidiobolus coronatus/Conidiobolus incongruus * Conidiobolomycosis Microsporidia (Microsporidiosis) * Enterocytozoon bieneusi/Encephalitozoon intestinalis Mesomycetozoea * Rhinosporidium seeberi * Rhinosporidiosis Ungrouped * Alternariosis * Fungal folliculitis * Fusarium * Fusariosis * Granuloma gluteale infantum * 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MD–PhD Related topics * Alternative medicine * Allied health * Dentistry * Podiatry * Pharmacy * Physiotherapy * Molecular oncology * Nanomedicine * Personalized medicine * Public health * Rural health * Therapy * Traditional medicine * Veterinary medicine * Physician * Chief physician * History of medicine * Book * Category * Commons * Wikiproject * Portal * Outline [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-aminobutyric 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	Chronic mucocutaneous candidiasis	c0341024	26,456	wikipedia	https://en.wikipedia.org/wiki/Chronic_mucocutaneous_candidiasis	2021-01-18T19:03:34	{"gard": ["12313"], "mesh": ["D002178"], "umls": ["C0341024"], "orphanet": ["1334"], "wikidata": ["Q3705799"]}
Krabbe disease affects the development and function of the nervous system. There are several types of Krabbe disease that differ based on the age that symptoms begin. The early-onset type of Krabbe disease is the most common and the most severe. Babies who have early-onset (infantile) Krabbe disease typically develop features in the first six months of life. Symptoms of infantile Krabbe disease may include irritability, failure to thrive, slowed development, and unexplained fevers. These are followed by progressive muscle weakness, hearing and vision loss, and decreased movement. Symptoms of the later-onset types of Krabbe disease start in childhood, early adolescence, or adulthood. These may include muscle weakness and stiffness, loss of milestones, blindness, behavior problems, dementia, and seizures. Krabbe disease is considered a fatal disease, and the average survival in the infantile type is 2 years. Krabbe disease is caused by genetic variants in the GALC gene and is inherited in an autosomal recessive pattern. Diagnosis is based on the symptoms, clinical exam, imaging studies, and may be confirmed by the results of genetic testing. Krabbe disease can also be diagnosed based on the results of newborn screening. Treatment is focused on managing the symptoms. If the diagnosis is made before symptoms begin, hematopoietic stem cell transplant is an option for treatment. [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-aminobutyric 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	Krabbe disease	c0023521	26,457	gard	https://rarediseases.info.nih.gov/diseases/6844/krabbe-disease	2021-01-18T17:59:33	{"mesh": ["D007965"], "omim": ["245200"], "orphanet": ["487"], "synonyms": ["Krabbe leukodystrophy", "Globoid cell leukodystrophy", "GCL", "Globoid cell leukoencephalopathy", "Galactosylceramide beta-galactosidase deficiency", "GALC deficiency", "GLD", "Galactocerebrosidase deficiency"]}
For a phenotypic description and a discussion of genetic heterogeneity of narcolepsy, see 161400. Mapping In a genomewide linkage search for narcolepsy in 8 Japanese families with 21 DR2-positive patients (14 narcoleptic cases with cataplexy and 7 with an incomplete form of narcolepsy), Nakayama et al. (2000) found a lod score of 3.09 at marker D4S2987 in the 4p13-q21 region. [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-aminobutyric 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	NARCOLEPSY 2, SUSCEPTIBILITY TO	c0027404	26,458	omim	https://www.omim.org/entry/605841	2019-09-22T16:10:53	{"doid": ["8986"], "mesh": ["D009290"], "omim": ["605841"], "orphanet": ["2073"]}
Severe intellectual disability and progressive spastic paraplegia is a rare complex spastic paraplegia characterized by an early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory, and some develop seizures and stereotypic laughter. [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-aminobutyric 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	Severe intellectual disability and progressive spastic paraplegia	c2752008	26,459	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=280763	2021-01-23T17:25:36	{"gard": ["10999"], "mesh": ["C567858"], "omim": ["612936", "613744", "614066", "614067"], "synonyms": ["AP4 deficiency syndrome"]}
Oral-facial-digital syndrome Other namesOrofaciodigital syndrome SpecialtyRheumatology, medical genetics Oral-facial-digital syndrome is a group of at least 13 related conditions that affect the development of the mouth, facial features, and digits in between 1 in 50,000 to 250,000 newborns with the majority of cases being type I (Papillon-League-Psaume syndrome).[1] ## Contents * 1 Type * 2 References * 3 External links ## Type[edit] The different types are:s[2] * Type I, Papillon-League-Psaume syndrome * Type II, Mohr syndrome[3] * Type III, Sugarman syndrome * Type IV, Baraitser-Burn syndrome[4] * Type V, Thurston syndrome[5] * Type VI, Varadi-Papp syndrome[6] * Type VII, Whelan syndrome[7] * Type VIII, Oral-facial-digital syndrome, Edwards type[8] (not to be confused with Edwards syndrome) * Type IX, OFD syndrome with retinal abnormalities[9] * Type X, OFD with fibular aplasia[10] * Type XI, Gabrielli syndrome[11] ## References[edit] 1. ^ "Oral-facial-digital syndrome - Genetics Home Reference". 2. ^ "National Organization for Rare Disorders". Archived from the original on 2014-08-16. Retrieved 2015-03-02. 3. ^ Online Mendelian Inheritance in Man (OMIM): MOHR SYNDROME - 252100 4. ^ Online Mendelian Inheritance in Man (OMIM): OROFACIODIGITAL SYNDROME IV; OFD4 - 258860 5. ^ Online Mendelian Inheritance in Man (OMIM): OROFACIODIGITAL SYNDROME V; OFD5 - 174300 6. ^ Online Mendelian Inheritance in Man (OMIM): OROFACIODIGITAL SYNDROME VI; OFD6 - 277170 7. ^ Online Mendelian Inheritance in Man (OMIM): OROFACIODIGITAL SYNDROME VII; OFD7 - 608518 8. ^ Online Mendelian Inheritance in Man (OMIM): OROFACIODIGITAL SYNDROME VIII; OFD8 - 300484 9. ^ Online Mendelian Inheritance in Man (OMIM): OROFACIODIGITAL SYNDROME IX; OFD9 - 258865 10. ^ Online Mendelian Inheritance in Man (OMIM): OROFACIODIGITAL SYNDROME X; OFD10 - 165590 11. ^ Online Mendelian Inheritance in Man (OMIM): OROFACIODIGITAL SYNDROME XI; OFD11 - 612913 ## External links[edit] Classification D * ICD-10: Q87.0 * MeSH: D009958 External resources * Orphanet: 140997 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-aminobutyric 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	Oral-facial-digital syndrome	c0029294	26,460	wikipedia	https://en.wikipedia.org/wiki/Oral-facial-digital_syndrome	2021-01-18T18:42:21	{"gard": ["10692"], "mesh": ["D009958"], "umls": ["C0029294"], "orphanet": ["140997"], "wikidata": ["Q3508783"]}
Onset is in childhood and the range affected is 500 to 4000 cps. Williams and Roblee (1962) described affected mother and 3 of her 6 children. This disorder was well delineated by Konigsmark et al. (1970) who emphasized that it can be progressive, contrary to the conclusion of Williams and Roblee (1962). They observed 4 families, 2 of which were extensively affected. They pointed out that the family reported by Martensson (1960) may have had the same disorder. Inheritance \- Autosomal dominant Misc \- Onset in childhood Ears \- Neural hearing loss \- Progressive hearing loss \- Midfrequency hearing loss ▲ 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-aminobutyric 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	DEAFNESS, MID-TONE NEURAL	c1852283	26,461	omim	https://www.omim.org/entry/124700	2019-09-22T16:42:34	{"mesh": ["C565122"], "omim": ["124700"]}
A number sign (#) is used with this entry because of evidence that pyridoxine-dependent epilepsy (EPD) is caused by homozygous or compound heterozygous mutation in the ALDH7A1 gene (107323) on chromosome 5q23. Description Pyridoxine-dependent epilepsy, characterized by a combination of various seizure types, usually occurs in the first hours of life and is unresponsive to standard anticonvulsants, responding only to immediate administration of pyridoxine hydrochloride. The dependence is permanent, and the interruption of daily pyridoxine supplementation leads to the recurrence of seizures. Some patients show developmental delay. The prevalence is estimated at 1 in 400,000 to 700,000 (Bennett et al., 2005). Clinical Features Pyridoxine-dependent epilepsy was first described by Hunt et al. (1954). Waldinger (1964) described 3 sibs of Italian ancestry in whom pyridoxine dependency was manifest by convulsions at birth. Four previously reported sibships with more than 1 affected sib were referred to. Bejsovec et al. (1967) described 3 sibs with intrauterine convulsions. The first 2 (females) died in status epilepticus. The third was shown to have pyridoxine dependency. Thus, this is one form of 'convulsive disorder, familial, with prenatal or early onset' (217200). Goutieres and Aicardi (1985) reported 3 patients with atypical pyridoxine-dependent seizures. Each had either late onset of convulsions or seizure-free intervals of up to several months' duration without B6 supplementation. The findings, together with those in 9 previously reported cases, led the authors to urge a trial of pyridoxine in all cases of seizure disorders with onset before 18 months of age, regardless of type. Autosomal recessive inheritance was supported by parental consanguinity in the case of an affected female infant whose elder brother died at 8 months of age of unexplained status epilepticus. Bennett et al. (2005) reported 6 Caucasian North American families with pyridoxine-dependent seizures. Two of the families had been reported by Battaglioli et al. (2000). Mills et al. (2006) reported 13 patients from 8 unrelated families with pyridoxine-dependent epilepsy. Seizures usually started on the first day of life, but in 1 case were delayed until 3 weeks of age. Clonic seizures, generalized tonic seizures, and myoclonic jerks were all observed. Seizures were resistant to the usual anticonvulsant drugs in all but 1 case, but stopped completely and immediately upon treatment with pyridoxine. Plasma and cerebrospinal fluid levels of pipecolic acid were increased. Despite early and good control of seizures, all but 1 child showed developmental delay, ranging from mild to severe, with psychomotor difficulties and speech delay. Other features in the neonatal period included respiratory distress, acidosis, and abdominal distention and vomiting. The parents in 6 of the families were consanguineous; the families were of Dutch, Austrian, Bosnian, Turkish, Arabic, and Asian origin. Inheritance Pyridoxine-dependent epilepsy shows autosomal recessive inheritance (Mills et al., 2006). Diagnosis Plecko et al. (2007) noted that in pyridoxine-dependent epilepsy, pipecolic acid (PA) and alpha-amino adipic semialdehyde (AASA) are markedly elevated in urine, plasma, and cerebrospinal fluid, and thus can be used as biomarkers of the disorder. Pyridoxine withdrawal is no longer needed to establish the diagnosis of 'definite' EPD. Administration of pyridoxine may not only correct secondary pyridoxalphosphate (PLP) deficiency, but may also lead to a reduction of AASA and P6C (piperideine-6-carboxylate) as presumably toxic compounds. Struys (2007) pointed out that in pyridoxine-dependent epilepsy, plasma pipecolic acid is only modestly elevated and that the elevation of AASA in urine, plasma, and cerebral spinal fluid is the most reliable basis for diagnosis. AASA dehydrogenase deficiency is the cause of pyridoxine-dependent epilepsy in a vast majority of cases; some cases are caused by hyperprolinemia II (239510). Bok et al. (2007) reevaluated the diagnosis of pyridoxine-dependent seizures in 11 Dutch patients who had been previously been diagnosed with 'definite' (4), 'probable' (3) or 'possible' (4) EPD using clinical criteria based on questionnaires (Been et al., 2005). Using metabolic parameters, Bok et al. (2007) confirmed the disorder in all 4 with definite, 2 with probable, and 3 with possible EPD. Patients with EPD had increased plasma and urinary AASA, whereas those without the disorder had normal AASA levels. Plasma PA levels were also increased in these patients, but urinary PA was normal. Bok et al. (2007) concluded that noninvasive urinary screening for AASA accumulation is a reliable tool to diagnose EPD and can thus avoid the potentially dangerous pyridoxine withdrawal test. Mapping Cormier-Daire et al. (2000) performed genetic linkage analysis in 5 affected families, 4 with consanguineous parents and 1 with nonconsanguineous parents. They excluded the GAD1 gene on chromosome 2q31 and the GAD2 gene (138275) on 10p23 as candidates for mutation in the disorder. A genomewide search using microsatellite markers revealed linkage to a 5.1-cM interval on chromosome 5q31.2-q31.3 (maximum lod score of 8.43 at marker D5S2017). Bennett et al. (2005) reported 6 small Caucasian North American families with pyridoxine-dependent seizures. Haplotype analysis of 2 families with evidence suggestive of linkage to chromosome 5q31, including 1 reported by Battaglioli et al. (2000), allowed refinement of the candidate disease interval to a 2.2-cM (2.0-Mb) region between markers D5S2011 and D5S2859. Five of the 6 families showed haplotype segregation consistent with linkage to chromosome 5q31, although the lod score did not reach significance (lod of 1.87 at marker D5S2011). Linkage to chromosome 5 was excluded in 1 family, indicating genetic heterogeneity. Molecular Genetics In affected infants from 8 unrelated families with pyridoxine-dependent epilepsy. Mills et al. (2006) identified homozygous or compound heterozygous mutations in the ALDH7A1 gene (107323.0001-107323.0007). In 7 patients from 4 apparently unrelated Dutch families with pyridoxine-dependent epilepsy (Been et al., 2005; Bok et al., 2007), Salomons et al. (2007) identified a homozygous mutation in the ALDH7A1 gene (E399Q; 107323.0001). Pathogenesis Mills et al. (2006) determined that the ALDH7A1 gene product is an AASA dehydrogenase in the pipecolic acid pathway of lysine catabolism. Deficiency of the enzyme results in seizures because accumulating P6C condenses with and inactivates PLP, an essential cofactor in neurotransmitter metabolism. Population Genetics Bennett et al. (2005) stated that the prevalence of pyridoxine-dependent epilepsy is estimated at 1 in 400,000 to 700,000. Bok et al. (2007) estimated the incidence of pyridoxine-dependent seizures in the Netherlands to be 1 in 276,000. History The defect in pyridoxine-dependent epilepsy had initially been proposed to reside in the glutamic acid decarboxylase-1 gene (GAD1; 605363) (Scriver and Whelan, 1969; Yoshida et al., 1971). Animal Model Using CRISPR/Cas9 gene editing, Pena et al. (2017) generated an aldh7a1-null zebrafish model that recapitulated the clinical and biochemical features of EPD. Beginning at 10 days postfertilization, mutant larvae displayed features consistent with an epilepsy phenotype, including spontaneous and recurrent seizures, epileptoform electrographic activity, and early death. Treatment with pyridoxine and PLP extended life span in mutant larvae, and pyridoxine treatment also alleviated the manifestation of seizures. Mass spectrometry revealed accumulation of EPD biomarkers, including AASA and P6C, B6 vitamin deficiency, and low gamma-aminobutyric acid levels in mutant fish, indicating that the ablation of aldh7a1 disrupted lysine degradation. Lysine supplementation aggravated the epilepsy phenotype in mutant larvae, inducing earlier seizure onset and death. Combination supplementation with pyridoxine and lysine suggested the existence of a critical 'seizure-inducing' level for AASA/P6C that was reached more rapidly with lysine supplementation. INHERITANCE \- Autosomal recessive RESPIRATORY \- Respiratory distress, neonatal NEUROLOGIC Central Nervous System \- Seizures \- Generalized tonic clonic seizures \- Myoclonic seizures \- Status epilepticus \- Hypotonia \- Delayed psychomotor development (mild to severe) \- Speech delay \- Mental retardation PRENATAL MANIFESTATIONS \- Fetal distress Movement \- Abnormal intrauterine movements LABORATORY ABNORMALITIES \- Increased serum and cerebrospinal fluid levels of pipecolic acid \- Increased serum, cerebrospinal fluid, and urinary levels of alpha-aminoadipic semialdehyde MISCELLANEOUS \- Prenatal or neonatal onset \- Seizures are responsive to pyridoxine treatment \- Incidence of 1 in 276,000 in the Netherlands MOLECULAR BASIS \- Caused by mutation in the aldehyde dehydrogenase 7 family, member A1 gene (ALDH7A1, 107323.0001 ) ▲ 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-aminobutyric 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	EPILEPSY, PYRIDOXINE-DEPENDENT	c1291560	26,462	omim	https://www.omim.org/entry/266100	2019-09-22T16:23:01	{"omim": ["266100"], "orphanet": ["3006"], "synonyms": ["Alternative titles", "PYRIDOXINE-DEPENDENT EPILEPSY", "PYRIDOXINE DEPENDENCY WITH SEIZURES", "AASA DEHYDROGENASE DEFICIENCY"], "genereviews": ["NBK1486"]}
Batten disease Other namesSpielmeyer–Vogt–Sjögren–Batten disease, Batten–Mayou disease, Vogt–Spielmeyer disease SpecialtyEndocrinology Usual onset5 to 10 years old[1] CausesGenetic[1] Frequency2 to 4 per 100,000 births in the US[1] Batten disease is a fatal disease of the nervous system that typically begins in childhood.[1] Onset of symptoms is usually between 5 and 10 years of age.[1] Often, it is autosomal recessive. It is the common name for a group of disorders called the neuronal ceroid lipofuscinoses (NCLs).[1] Although Batten disease is usually regarded as the juvenile form of NCL (or "type 3"), some physicians use the term Batten disease to describe all forms of NCL. Historically, the NCLs were classified by age of disease onset as infantile NCL (INCL), late infantile NCL (LINCL), juvenile NCL (JNCL) or adult NCL (ANCL).[2] At least 20 genes have been identified in association with Batten disease, but juvenile NCL, the most prevalent form of Batten disease, has been linked to mutations in the CLN3 gene.[3][4]It was first described in 1903.[1] ## Contents * 1 Signs and symptoms * 2 Cause * 2.1 NCL diseases * 2.2 Juvenile NCL: CLN3 mutation * 3 Diagnosis * 4 Treatment * 5 History * 6 Research * 7 See also * 8 References * 9 External links ## Signs and symptoms[edit] Early signs and symptoms of the disorder usually appear around ages 2–10, with gradual onset of vision problems or seizures. Early signs may be subtle personality and behavioral changes, slow learning or regression, repetitive speech or echolalia, clumsiness or stumbling. Slowing head growth in the infantile form, poor circulation in lower extremities (legs and feet), decreased body fat and muscle mass, curvature of the spine, hyperventilation and/or breath-holding spells, teeth grinding and constipation may occur.[citation needed] Over time, affected children suffer mental impairment, worsening seizures and progressive loss of sight, speech and motor skills. Batten disease is a terminal disease; life expectancy varies depending on the type or variation.[citation needed] Females with juvenile Batten disease show first symptoms a year later than males, but on average die a year sooner.[5] ## Cause[edit] NCLs are a family of diseases that are inherited in an autosomal recessive manner. Collectively referred to as Batten disease, NCLs are responsible for most paediatric neurodegenerative diseases. The specific type of NCL is characterized by the age of symptomatic onset and genetic mutation involved. Currently, mutations in ten genes are believed to lead to the development of Batten disease; 'the incidence is as high as one in 12,500 live births'.[6] Batten disease has an autosomal recessive pattern of inheritance. ### NCL diseases[edit] * Infantile neuronal ceroid (INCL): CLN1 encodes for the protein PPT1 which functions as a lysosomal enzyme.[7] * Late infantile NCL (LINCL): CLN2 encodes for the protein TPP1 which serves as a lysosomal enzyme.[7] Life expectancy is between eight and twelve years of age. [8] * Juvenile NCL (JNCL): CLN3 encodes for CLN3, a lysosomal transmembrane protein.[7] * Adult NCL: CLN4 has no known associated protein.[7] * Finnish variant of late infantile NCL (fLINCL): CLN5 encodes for CLN5, a soluble lysosomal protein.[7] * Variant of the late infantile NCL: CLN6 encodes for the protein CLN6, which serves as a transmembrane protein of the endoplasmic reticulum.[7] * Turkish variant of late infantile NCL: CLN7 or MFSD8, encodes for MFSD8, which functions as a lysosomal transmembrane protein.[7] * Northern epilepsy: CLN8 encodes for CLN8, a transmembrane protein of the endoplasmic reticulum.[7] * Late infantile NCL: CLN10 or CTSD encodes for CTSD, which is a lysosomal protein which a variety of functions.[7] * Infantile osteopetrosis: CLCN7 encodes for CLCN7.[7] ### Juvenile NCL: CLN3 mutation[edit] The CLN3 gene is located on the short arm of chromosome 16 at gene position 12.1 (16p12.1), and mutations within this gene are the major cause of juvenile NCL. More specifically, 73% of Batten disease cases are due to a 1.02-kb deletion within this gene, CLN3, which causes a frameshift which produces a truncated mutant gene product of only 181 amino acids in length when compared to the wild-type gene product of 438 amino acids in length. Normal-functioning CLN3 encodes for a hydrophobic transmembrane protein that is mainly localized to the lysosome; however, the 181 amino acid mutant gene product was instead found to primarily localize to the endoplasmic reticulum and Golgi apparatus. The precise function of the CLN3 gene product remains unknown.[6] ## Diagnosis[edit] Batten disease is rare; misdiagnosis may lead to increased medical expenses, family stress, and the chance of using incorrect forms of treatment, which may exacerbate the patient's condition. Nevertheless, Batten disease can be diagnosed if properly detected. Vision impairment is the most common observable symptom of the disease. Occurrences in children are more prevalent than occurrences in adolescents or adults.[citation needed] Children or adults suspected of having Batten disease should initially see an optometrist or ophthalmologist. A fundus eye examination that aids in the detection of common vision impairment abnormalities, such as granularity of the retinal pigment epithelium in the central macula will be performed.[citation needed] Though it is also seen in a variety of other diseases, a loss of ocular cells is a warning sign of Batten disease. If Batten disease is the suspected diagnosis, a variety of tests is conducted to help accurately confirm the diagnosis, including: * Blood or urine tests can help detect abnormalities that may indicate Batten disease. For example, elevated levels of dolichol in urine have been found in many individuals with NCL. The presence of vacuolated lymphocytes—white blood cells that contain holes or cavities (observed by microscopic analysis of blood smears)—when combined with other findings that indicate NCL, is suggestive for the juvenile form caused by CLN3 mutations.[9] * Skin or tissue sampling is performed by extracting a small piece of tissue, which then is examined under an electron microscope. This can allow physicians to detect typical NCL deposits. These deposits are common in tissues such as skin, muscle, conjunctiva, and rectum.[9] This diagnostic technique is useful, but other invasive tests are more reliable for diagnosing Batten disease. * Electroencephalogram (EEG) is a technique that uses special probes attached on to the individual's scalp. It records electrical currents/signals, which allow medical experts to analyze electrical pattern activity in the brain. EEG assists in observing if the patient has seizures.[9] * Electrical studies of the eyes are used, because as mentioned, vision loss is the most common characteristic of Batten disease. Visual-evoked responses and electroretinograms are effective tests for detecting various eye conditions common in childhood NCLs. * Computed tomography (CT) or magnetic resonance imaging (MRI) are diagnostic imaging tests that allow physicians to better visualize the appearance of the brain. MRI imaging test uses magnetic fields and radio waves to help create images of the brain. CT scan uses x-rays and computers to create a detailed image of the brain's tissues and structures. Both diagnostic imaging tests can help reveal brain areas that are decaying, or atrophic, in persons with NCL.[9] * Measurement of enzyme activity specific to Batten disease may help confirm certain diagnoses caused by different mutations. Elevated levels of palmitoyl-protein thioesterase is involved in CLN1. Acid protease is involved in CLN2. Cathepsin D is involved in CLN10.[9] * DNA analysis can be used to help confirm the diagnosis of Batten disease. When the mutation is known, DNA analysis can also be used to detect unaffected carriers of this condition for genetic counseling. If a family mutation has not previously been identified or if the common mutations are not present, recent molecular advances have made it possible to sequence all of the known NCL genes, increasing the chances of finding the responsible mutation(s).[9] ## Treatment[edit] Batten disease is a terminal illness; the FDA has approved Brineura (cerliponase alfa) as a treatment for a specific form of Batten disease. Brineura is the first FDA-approved treatment to slow loss of walking ability (ambulation) in symptomatic pediatric patients 3 years of age and older with late infantile neuronal ceroid lipofuscinosis type 2 (CLN2), also known as tripeptidyl peptidase-1 (TPP1) deficiency. Palliative treatment is symptomatic and supportive. One drug, an antisense oligonucleotide, milasen,[10] described in The New England Journal of Medicine,[11] is believed to be the first “custom” treatment for a genetic disease. It is named after Mila Makovec, the only patient who may ever take it. (It could help another exceedingly rare patient who has the same mutation as Mila.)[citation needed] ## History[edit] Batten disease is named after the British pediatrician Frederick Batten, who first described it in 1903.[12][13] Also known as Spielmeyer-Vogt-Sjögren-Batten disease, it is the most common form of a group of disorders called neuronal ceroid lipofuscinosis (NCL). Although Batten disease is usually regarded as the juvenile form of NCL, some physicians use the term Batten disease to describe all forms of NCL.[citation needed] ## Research[edit] Memorial sculpture in Progress Frenchman's Bay East Park, Pickering, Ontario, Canada, dedicated to the children who have lost or will lose their lives to Batten disease This section needs to be updated. Please update this article to reflect recent events or newly available information. (February 2019) In June 1987, a phase-I clinical trial was launched at Weill Cornell Medical College of Cornell University to study a gene therapy method for treatment of the signs and symptoms of LINCL. The experimental drug works by delivering a gene transfer vector called AAV2CUhCLN2 to the brain.[14] Although the trial is not matched, randomized, or blinded and lacked a contemporaneous placebo/sham control group, assessment of the primary outcome variable suggests a slowing of progression of LINCL in the treated children.[15] Researchers believe the neurological deficits common in JNCL could be due to overactive AMPA receptors in the cerebellum. To test this hypothesis, researchers administered AMPA antagonist drugs into affected mice. The motor skills of the affected mice showed significant improvement after the antagonist treatment, which supported the hypothesis that the neurological deficits in JNCL are due to overactive AMPA receptors. This research could eventually help to alleviate neurological deficits of JNCL in humans.[16] In November 2006, after receiving FDA clearance, neurosurgeon Nathan Selden, pediatrician Bob Steiner, and colleagues at Doernbecher Children's Hospital at Oregon Health and Science University began a clinical study in which purified neural stem cells were injected into the brain of Daniel Kerner, a six-year-old child with Batten disease, who had lost the ability to walk and talk. This patient was the first of six to receive the injection of a stem cell product from StemCells Inc., a Palo Alto biotech company. These are believed to be the first-ever transplants of fetal stem cells into the human brain.[17] By early December, the child had recovered well enough to return home, and some signs of speech returning were reported.[18] [19] The main goal of phase-I clinical trials, however, was to investigate the safety of transplantation. Overall, the phase-I data demonstrated that high doses of human neural stem cells, delivered by a direct transplantation procedure into multiple sites within the brain, followed by 12 months of immunosuppression, were well tolerated by all six patients enrolled in the trial. The patients’ medical, neurological, and neuropsychological conditions, following transplantation, appeared consistent with the normal course of the disease. Daniel Kerner died on August 20th, 2009. In 2010, Cherie and Jim Flores donated $2 million, the biggest gift in Batten disease research history, and the Beyond Batten Disease Foundation contributed $500,000 to establish laboratories for Italian researchers Drs. Ballabio, Sardiello and their colleagues at the Jan and Dan Duncan Neurological Research Institute of Texas Children’s Hospital.[14] During 2011, the first controlled clinical trials began with the University of Rochester for a treatment for Batten Disease.[15] The trial included 30 patients who were experiencing signs of the disease in the hope of slowing its progress. In November 2013, Weill Medical College of Cornell University began recruiting participants for a safety study of a gene transfer vector,[16] described as a non-randomised safety and efficacy trial. As part of a trial began by University of Rochester in March 2014. Mycophenolate mofetil is being tested to determine its efficacy and safety using a gene transfer vector. In complex diseases such as Batten, therapies that address multiple aspects of the disease at the same time have the potential for higher impact than those focusing on one aspect.“The use of several treatment strategies might offer additional benefits to patients with neurodegenerative disease, but the benefits of this approach must be weighed carefully against the additional adverse effects that combined treatments might bring,” the researchers wrote. The medical team also noted that “over the past two decades, scientists and clinicians within the Batten disease community have worked to ensure that tools are in place to enable progress towards effective treatments at an unprecedented pace. ”Recent progress in Batten disease research offers hope that efficient and targeted therapies will be available soon, the researchers said, noting that the “Batten disease research community is becoming a model of how effective, efficient rare disease research can be accomplished by working together.” One drug, an antisense oligonucleotide, milasen[10], described in The New England Journal of Medicine[11], is believed to be the first “custom” treatment for a genetic disease. It is named after the patient for who it was designed and the only person who may ever take it, Mila Makovec, who has Batten CLN7. More about this story can be found on the Mila's Miracle Foundation website. ## See also[edit] * Lysosomal storage diseases ## References[edit] 1. ^ a b c d e f g "Batten Disease Fact Sheet \| National Institute of Neurological Disorders and Stroke". www.ninds.nih.gov. Retrieved 30 November 2020. 2. ^ Hobert JA, Dawson G (October 2006). "Neuronal ceroid lipofuscinoses therapeutic strategies: past, present and future". Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1762 (10): 945–53. doi:10.1016/j.bbadis.2006.08.004. PMID 17049436. 3. ^ Rakheja D, Narayan SB, Bennett MJ (September 2007). "Juvenile neuronal ceroid-lipofuscinosis (Batten disease): a brief review and update". Current Molecular Medicine. 7 (6): 603–8. doi:10.2174/156652407781695729. PMID 17896996. 4. ^ Cooper JD (June 2008). "Moving towards therapies for juvenile Batten disease?". Experimental Neurology. 211 (2): 329–31. doi:10.1016/j.expneurol.2008.02.016. PMID 18400221. S2CID 32126291. 5. ^ Cialone J, Adams H, Augustine EF, et al. (May 2012). "Females experience a more severe disease course in Batten disease". Journal of Inherited Metabolic Disease. 35 (3): 549–55. doi:10.1007/s10545-011-9421-6. PMC 3320704. PMID 22167274. 6. ^ a b Jill M. Weimer; Elizabeth Kriscenski-Perry; Yasser Elshatory; David A. Pearce (2002). "The Neuronal Ceroid Lipofuscinoses: Mutations in Different Proteins Result in Similar Disease". NeuroMolecular Medicine. 1 (2): 111–124. doi:10.1385/nmm:1:2:111. PMID 12025857. S2CID 33921126. 7. ^ a b c d e f g h i j Jalanko, Anu; Braulke, Thomas (2009). "Neuronal ceroid lipofuscinoses". Biochimica et Biophysica Acta (BBA) - Molecular Cell Research. 1793 (4): 697–709. doi:10.1016/j.bbamcr.2008.11.004. PMID 19084560. 8. ^ "Warren Recognizes Batten Disease Awareness Day". June 4, 2018. Retrieved May 30, 2020. 9. ^ a b c d e f "Noah's Hope - Causes and Symptoms of Batten Disease". www.noahshope.com. Archived from the original on 2016-11-23. Retrieved 2016-11-22. 10. ^ Chen, Angus (October 15, 2019). "A Drug Was Made For Just One Child, Raising Hopes About Future Of Tailored Medicine". Retrieved May 30, 2020. 11. ^ Kim, Jinkuk; Hu, Chunguang; Moufawad El Achkar, Christelle; Black, Lauren E.; Douville, Julie; Larson, Austin; Pendergast, Mary K.; Goldkind, Sara F.; Lee, Eunjung A.; Kuniholm, Ashley; Soucy, Aubrie; Vaze, Jai; Belur, Nandkishore R.; Fredriksen, Kristina; Stojkovska, Iva; Tsytsykova, Alla; Armant, Myriam; Didonato, Renata L.; Choi, Jaejoon; Cornelissen, Laura; Pereira, Luis M.; Augustine, Erika F.; Genetti, Casie A.; Dies, Kira; Barton, Brenda; Williams, Lucinda; Goodlett, Benjamin D.; Riley, Bobbie L.; Pasternak, Amy; et al. (2019). "Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease". New England Journal of Medicine. 381 (17): 1644–1652. doi:10.1056/NEJMoa1813279. PMC 6961983. PMID 31597037. 12. ^ synd/7 at Who Named It? 13. ^ Batten FE (1902). "Cerebral degeneration with symmetrical changes in the maculae in two members of a family". Transactions of the Ophthalmological Societies of the United Kingdom. 23: 386–90. 14. ^ Clinical trial number NCT00151216 for "Safety Study of a Gene Transfer Vector for Children With Late Infantile Neuronal Ceroid Lipofuscinosis" at ClinicalTrials.gov 15. ^ Worgall S, Sondhi D, Hackett NR, et al. (May 2008). "Treatment of late infantile neuronal ceroid lipofuscinosis by CNS administration of a serotype 2 adeno-associated virus expressing CLN2 cDNA". Human Gene Therapy. 19 (5): 463–74. CiteSeerX 10.1.1.553.872. doi:10.1089/hum.2008.022. PMID 18473686. 16. ^ Kovács, Attila D.; Pearce, David A. (2008-01-01). "Attenuation of AMPA receptor activity improves motor skills in a mouse model of juvenile Batten disease". Experimental Neurology. The Role of α-synuclein in the Pathogenesis of Parkinson's Disease / Gene Therapy for Parkinson's. 209 (1): 288–291. doi:10.1016/j.expneurol.2007.09.012. PMC 4418195. PMID 17963751. 17. ^ "A stem cell first at OHSU Archived 2012-02-06 at the Wayback Machine" The Portland Tribune, Nov 24, 2006 18. ^ http://www.technologyreview.com/read_article.aspx?id=17888&ch=biotech[full citation needed][permanent dead link] 19. ^ "Archived copy". Archived from the original on 2015-10-24. Retrieved 2015-09-21.CS1 maint: archived copy as title (link) ## External links[edit] Wikimedia Commons has media related to Batten disease. * Batten disease at NINDS * GeneReviews/NCBI/NIH/UW entry on Neuronal Ceroid-Lipofuscinosis * Batten FE, Mayou MS (1915). "Family Cerebral Degeneration with Macular Changes". Proceedings of the Royal Society of Medicine. 8 (Sect Ophthalmol): 70–90. doi:10.1177/003591571500801624. PMC 2003604. PMID 19978990. Classification D * ICD-10: E75.4 * ICD-9-CM: 330.1 * OMIM: 204200 * MeSH: D009472 * DiseasesDB: 31534 External resources * Orphanet: 79264 * v * t * e Lysosomal storage diseases: Inborn errors of lipid metabolism (Lipid storage disorders) Sphingolipidoses (to ceramide) From ganglioside (gangliosidoses) * Ganglioside: GM1 gangliosidoses * GM2 gangliosidoses (Sandhoff disease * Tay–Sachs disease * AB variant) From globoside * Globotriaosylceramide: Fabry's disease From sphingomyelin * Sphingomyelin: phospholipid: Niemann–Pick disease (SMPD1-associated * type C) * Glucocerebroside: Gaucher's disease From sulfatide (sulfatidoses * leukodystrophy) * Sulfatide: Metachromatic leukodystrophy * Multiple sulfatase deficiency * Galactocerebroside: Krabbe disease To sphingosine * Ceramide: Farber disease NCL * Infantile * Jansky–Bielschowsky disease * Batten disease Other * Cerebrotendineous xanthomatosis * Cholesteryl ester storage disease (Lysosomal acid lipase deficiency/Wolman disease) * Sea-blue histiocytosis [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-aminobutyric 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	Batten disease	c0751383	26,463	wikipedia	https://en.wikipedia.org/wiki/Batten_disease	2021-01-18T18:44:23	{"mesh": ["D009472"], "umls": ["C0751383"], "icd-9": ["330.1"], "icd-10": ["E75.4"], "orphanet": ["79264"], "wikidata": ["Q1753778"]}
Ring chromosome 2 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by intrauterine growth retardation, failure to thrive, developmental delay, hypotonia, mild dysmorphic features (incl. microcephaly, short forehead, upslanting palpebral fissures, hypertelorism, epicanthal folds, wide nasal bridge, broad nasal tip, long philtrum, thin upper lip, micrognathia, short neck), skeletal anomalies (e.g. kyphosis, brachydactyly, clinodactyly, talipes equinovarus) and dermatological features (i.e. café-au-lait spots). Patients may also present ventriculoseptal defects and genital abnormalities (e.g. genital hypoplasia, phimosis, cryptorchidism). [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-aminobutyric 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	Ring chromosome 2 syndrome	c4707448	26,464	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=96171	2021-01-23T17:10:23	{"gard": ["10837"], "icd-10": ["Q93.2"], "synonyms": ["Ring 2", "Ring chromosome 2"]}
Parasitic disease caused by a protozoan Giardia lamblia, an infectious protozoan Protozoan infections are parasitic diseases caused by organisms formerly classified in the Kingdom Protozoa. They are usually contracted by either an insect vector or by contact with an infected substance or surface and include organisms that are now classified in the supergroups Excavata, Amoebozoa, SAR, and Archaeplastida.[1] Protozoan infections are responsible for diseases that affect many different types of organisms, including plants, animals, and some marine life. Many of the most prevalent and deadly human diseases are caused by a protozoan infection, including African Sleeping Sickness, amoebic dysentery, and malaria. The species originally termed "protozoa" are not closely related to each other and only have superficial similarities (eukaryotic, unicellular, motile, though with exceptions). The terms "protozoa" (and protist) are usually discouraged in the modern biosciences. However, this terminology is still encountered in medicine. This is partially because of the conservative character of medical classification and partially due to the necessity of making identifications of organisms based upon morphology. Within the taxonomic classification, the four protist supergroups (Amoebozoa, Excavata, SAR, and Archaeplastida) fall under the Domain Eukarya. Protists are an artificial grouping of over 64,000 different single-celled life forms. This means that it is difficult to define protists due to their extreme differences and uniqueness. Protists are a polyphyletic [(of a group of organisms) derived from more than one common evolutionary ancestor or ancestral group and therefore not suitable for placing in the same taxon][2] a collection of organisms and they are unicellular, which means that they lack the level of tissue organization which is present in more complex eukaryotes. Protists grow in a wide variety of moist habitats and a majority of them are free-living organisms. In these moist environments, plankton and terrestrial forms can also be found. Protists are chemoorganotrophic [organisms which oxidize the chemical bonds in organic compounds as their energy source][3] and are responsible for recycling nitrogen and phosphorus. Parasites also are responsible for causing disease in humans and domesticated animals. Protozoa are chemoorganotrophic protists and have three different ways of acquiring nutrients. The first method of acquiring nutrients is through saprotrophic nutrition. In saprotrophic nutrition, nutrients are obtained from dead organic matter through enzymatic degradation. The second method of acquiring nutrients is through osmotrophic nutrition. In osmotrophic nutrition, nutrients are obtained through absorbing soluble products. The third method of acquiring nutrients is through holozoic nutrition. In holozoic nutrition, solid nutrients are absorbed through phagocytosis.[1] Some protozoa are photoautotrophic protists. These protists include strict aerobes, and use photosystems I and II in order to carry out photosynthesis which produces oxygen.[1] Diagram of Plasmodium structure Mixotrophic protists obtain nutrients through organic and inorganic carbon compounds simultaneously.[1] All cells have a plasma membrane. In a protist, the plasma membrane is also known as the plasmalemma. Just below the plasma membrane, and in the inner fluid region, cytoplasm can be found. The pellicle structure in the protist is a thin layer of protein that helps provide the cell with some support and protection. In addition to the plasma membrane, protists contain two different types of vacuoles. Contractile vacuoles help to maintain osmoregulation, and phagocytic vacuoles allow select protists to ingest food. In some protists, flagella and/or cilia may be present to help with motility and nutrient intake. The flagella/cilia create water currents that assist in feeding and respiration. Energy intake is necessary for protists’ survival. Aerobic chemoorganotrophic protists produce energy through the use of their mitochondria. The mitochondria then generates energy for the protist to keep up with cellular life functions. Photosynthetic protists produce energy through the use of their mitochondria and chloroplasts. Finally, anaerobic chemoorganotrophs produce energy through the use of hydrogenosomes, which is a membrane enclosed organelle that releases molecular hydrogen (H2).[1] Encystment is when a protist becomes a dormant cyst with a cell wall; during encystment, the cyst has decreased complexity and metabolic activity relative to the protist. Encystment protects the protist from environmental changes, the cyst can be a site for nuclear reorganization and cell division, and it can act as a host cell in order to transfer parasitic species. Excystment is when a return to favorable conditions may cause a cyst to return to its original state. In parasitic protists, excystment may occur when the cyst is ingested by a new host.[1] Protists reproduce asexually or sexually. If the protists reproduce asexually, they do so through binary fission, multiple fission, budding, and fragmentation. If the protists reproduce sexually, they do so through a syngamy process where there is a fusion of the gametes. If this occurs in an individual it is recognized as autogamy. If this occurs between individuals, it is known as conjugation.[1] ## Contents * 1 Supergroup Excavata * 1.1 Diplomonads * 1.2 Parabasilia * 1.3 Euglenozoa * 2 Supergroup Amoebozoa * 2.1 Entamoebida * 3 Supergroup SAR * 3.1 Stramenopila * 3.2 Alveolata * 3.3 Rhizaria * 4 Archaeplastida * 5 Future Treatment * 6 References * 7 External links ## Supergroup Excavata[edit] Excavata are considered primitive eukaryotes. They are characterized by a feeding groove with a posteriorly located flagella, which allows them to create a current that captures small food particles.[4] The cytostome is the specialized structure that allows the protists this function. This supergroup Excavata includes the subgroups Diplomonads (Fornicata), Parabasalids, and Euglenozoans.[5] ### Diplomonads[edit] Dipolomonads used to be defined as Fornicata, but their characteristics remain the same despite their renaming. They are microaerophilic protists. Diplomonads were previously defined by the lack of a mitochondria, but recent studies have found that they have a nonfunctional, mitochondrial remnant organelle called a mitosome. Most are harmless except for Giardia, Hexamita salmonis, and Histomonas meleagridis. Giardia causes diarrhea, Hexamita salmonis is a fish parasite, and Histomonas meleagridis is a turkey pathogen. Giardia intestinalis is a human pathogen, which is transmitted by cyst contaminated water. It causes epidemic diarrhea from contaminated water. You can tell you may be infected by the observation of cysts or trophozoites in stools and ELISA (enzyme-linked immunosorbent assay) test. To prevent contamination, avoid any possibly contaminated water, and if contaminated water is the only thing available to drink, a slow sand filter should be used. A study found that the chlorination of water and nutritional intervention had no effect on childhood giardia infection. Only handwashing and hygienic sanitation interventions reduced infection rates in children.[6] Hexamita salmonis is a common flagellated fish pathogen. Infected fish are weak, emaciated, and typically swim on their side.[7] Histomonas meleagridis is a common bird pathogen that causes histomoniasis. Signs of histomoniasis include reduced appetite, drooping wings, unkempt feathers, and yellow fecal droppings.[8] ### Parabasilia[edit] Most Parabasalia are flagellated endosymbionts of animals. They lack a distinct cytostome, which means they must use phagocytosis to engulf food. There are two subgroups: Trichonympha and Trichomonadida. Trichonympha are obligate mutualists of wood-eating insects such as termites. They secrete cellulase, which is used for digesting wood. The next subgroup, Trichomonadida, does not require oxygen and possesses hydrogenosomes. They only reproduce through asexual reproduction and some strains are human pathogens. There are three types of pathogenic parabasalia: Trichomonas foetus, Dientamoeba fragilis, and Trichomonas vaginalis. Trichomonas foetus causes spontaneous abortion in cattle, Dientamoeba fragilis causes diarrhea in humans, and Trichomonas vaginalis is a sexually transmitted disease.[1] Image of a cultured Tritrichomonas foetus Trichomonas foetus is a parasite that resides in the urogenital tract of cattle and causes bovine trichomoniasis. Trichomoniasis is a sexually transmitted disease that causes infertility in heifers. Most infertility is caused by sudden embryonic death.[9] Various imidazoles have been used to treat infected bulls, but none are safe and effective. Ipronidazole is probably most effective but it frequently causes sterile abscesses at injection sites.[10] Dientamoeba fragilis is a parasite that lives in the large intestine of humans. No one knows how D. fragilis is spread; one possibility is from swallowing contaminated water or food. Many people who are infected with this parasite show no signs of being infected. Sometimes the infection can be observed; the most common symptoms include diarrhea, stomach pains, loss of appetite, nausea, and fatigue.[11] Trichomonas vaginalis is a sexually transmitted disease. Men who are infected rarely show any symptoms (asymptomatic). Women who are infected usually show signs of soreness, inflammation, and redness around the vagina and a possible change in vaginal discharge. Trichomonas vaginalis can be treated with a course of antibiotics.[12] ### Euglenozoa[edit] Most Euglenozoa are photoautotrophic, but some are chemoorganotrophs (saprophytic). They are commonly found in freshwater. The members of the phylum Euglenozoa have a pellicle for support, a red eye spot called a stigma to orient the cell toward light, chlorophyll a and b to assist in the process of photosynthesis, contractile vacuoles, and flagella. Leishmaniasis lesion on adult human forearm One major pathogen from the phylum Euglenozoa is Leishmania. Leishmania causes leishmaniasis. The symptoms of leishmaniasis include systemic and skin/membrane damage. Leishmania parasites spread by phlebotomine sand flies in the tropics, subtropics, and southern Europe.[13] They may manifest cutaneously (cutaneous leishmaniasis) as skin sores with as scab a few weeks after the bite or internally (visceral leishmaniasis), affecting the organs, which can be life-threatening. Cutaneous leishmaniasis can spread to the mucus membranes and cause mucosal leishmaniasis even years after the initial infection.[14] Cutaneous leishmaniasis heals on its own and leaves bad scars.[15] Only FDA approved for visceral leishmaniasis is amphotericin B and oral miltefosine for cutaneous and mucosal leishmaniasis diagnosis- tissue specimen, bone marrow, blood tests detect antibody to parasite for visceral leishmaniasis.[16][17] Reduviid Bug The second pathogen from this phylum is Trypanosoma cruzi. Trypanosoma cruzi causes Chagas disease and is transmitted by the reduviid bug, also known as the “kissing bug.” Chagas disease is diagnosed using a physical exam and blood test.[18] The only treatment includes antiparasitics only from the CDC, which are not FDA approved.[19] Acute Chagas disease has a quick onset, the trypanosomes enter the bloodstream, they become amastigotes, and replicate. Acute Chagas disease can be treated using benznidazole or nifurtimox. Chronic chagas disease is asymptomatic and causes heart and gastrointestinal cells to be affected. Currently, there are only investigational treatments for this disease. Unfortunately, vaccines are not effective with Chagas disease due to antigenic variation. This pathogen causes damage to the nervous system. African Sleeping Sickness is caused by Trypanosoma brucei rhodensiense and Trypanosoma brucei gambiense, and is transmitted by the tsetse fly. It is diagnosed by a physical exam and blood test. African sleeping sickness causes interstitial inflammation, lethargy, brain swelling, and death within one to three years. Drug therapy, using Eflornithine and Melarsoprol Pentamidine for T. gambiense and Suramin(Antrypol) for either Trypanosoma brucei rhodensiense and Trypanosoma brucei gambiense, or combinations of these medications, can help treat this disease, but vaccines can not be used due to antigenic variation. ## Supergroup Amoebozoa[edit] X-ray of colon infected with E. histolytica Amoebozoa are characterized by the use of pseudopodia for movement and feeding. These protists reproduce by binary or multiple fission. ### Entamoebida[edit] Entamoebida lack mitochondria and possess mitosomes. Entamoeba histolytica is a pathogenic parasite known to cause amoebiasis, which is the third leading cause of parasitic deaths.[20] It is diagnosed by the assessment of stool samples.[21] Amoebiasis is caused by the ingestion of food or water contaminated with feces or other bodily wastes of an infected person, which contain cysts, the dormant form of the microbe. These cysts on reaching the terminal ileum region of the gastrointestinal tract give rise to a mass of proliferating cells, the trophozoite form of the parasite, by the process of excystation.[22] Symptoms of this infection include diarrhea with blood and mucus, and can alternate between constipation and remission, abdominal pain, and fever. Symptoms can progress to ameboma, fulminant colitis, toxic megacolon, colonic ulcers, leading to perforation, and abscesses in vital organs like liver, lung, and brain. Amoebiasis can be treated with the administration of anti-amoebic compounds, this often includes the use of Metronidazole, Ornidazole, Chloroquine, Secnidazole, Nitazoxanide and Tinidazole. Tinidazole may be effective in curing children.[23] The usage of conventional therapeutics to treat amoebiasis if often linked with substantial side effects, a threat to the efficacy of these therapeutics, further worsened by the development of drug resistance in the parasite.[20] Amoebic meningoencephalitis and keratitis is a brain-eating amoeba caused by free-living Naeglaria and Acanthomoeba. One way this pathogen can be acquired is by soaking contact lenses in water instead of contact solution. This will result in progressive ulceration of the cornea.[24] This pathogen can be diagnosed by demonstration of amoebae in clinical specimens. There is currently no drug therapy available for amoebic meningoencephalitis and keratitis. ## Supergroup SAR[edit] The supergroup SAR includes Rhizaria, Alveolata, and Stramenopiles and is distinguished by fine pseudopodia which can be branched, simple, or connected. ### Stramenopila[edit] Some members of Stramenopila are brown algae, diatoms, and water molds. An example of Stramenopila are Peronosporomycetes. The most well-known example of Peronosporomycetes is Phytophthora infestans. This organism caused the Great Famine of Ireland in the 1850s.[25] ### Alveolata[edit] Alveolata is a large group, which includes Dinoflagellata, Ciliophora, and Apicomplexa.[26] Toxoplasmosis life cycle between humans and animals Balantidium Coli (Balantidiasis) is an example of a member of the phylum Ciliophora. Balantidiasis is the only ciliate known to be capable of infecting humans, and swine are the primary reservoir host.[27] Balantidiasis is opportunistic and rare in Western countries.[28] Apicomplexans are parasites of animals and contain an arrangement of organelles called the apical complex. One example of an apicomplexan is Malaria. Five species of plasmodium cause malaria in animals. Malaria is transmitted by the bite of an infected female mosquito. Symptoms of malaria include: periodic chills and fever, anemia, and hypertrophy of the liver and spleen. Cerebral malaria can occur in children. In order to diagnose Malaria, doctors will look for parasites in Wright-or-Giemsa-stained red blood cells and serological tests. Treatment includes antimalarial drugs, however, resistance has been observed. New vaccines are being discovered to this day. Preventative measures that can be taken include sleeping with netting and using insecticide to prevent mosquitoes. Eimeria is another example of an apicomplexan pathogen. This pathogen causes cecal coccidiosis in chickens. Coccidiosis is a parasitic disease of the intestinal tract.[29] This disease is treated by placing anticoccidials in the chickens’ feed. It also causes malabsorption, diarrhea, and sometimes bloody diarrhea in animals. Theileria parva & T. annulata are tick-borne parasites which cause fatal East Coast fever in cattle. East Coast fever is transmitted by the bite of the three-host tick Phipicephalus appendiculatus and results in respiratory failure and death in African cattle. Most hosts of P. appendiculatus succumb to pulmonary edema and die within three weeks of infection. The severity of the infection can be lessened by treatment with antiprotozoal drugs like buparvaquone. Toxoplasma causes toxoplasmosis and can be acquired from undercooked meat or cat feces containing Toxoplasma gondii. The majority of the 60 million Americans infected with T. gondii are asymptomatic. The group most vulnerable to this pathogen are the fetuses of mothers who have been infected with the parasite for the first time during pregnancy. This can result in damage to the fetus’s brain, eyes, and other organs. Treatment is available for pregnant women and the immunosuppressed.[30] Cryptosporidiosis can be contracted through contact with water, food, soil, or surfaces contaminated with feces containing the Cryptosporidium. Immunocompromised people are the most susceptible. Cryptosporidiosis causes watery diarrhea and can resolve itself without medical intervention. It is diagnosed by examining stool samples, and diarrhea can be treated using Nitazoxanide.[31] ### Rhizaria[edit] Plasmodiophorids and Halosporidians are two examples of parasitic Rhizaria. Plasmodiophorids cause infections in crops such as Spongospora subterranea. They cause powdery scabs and galls and disrupt growth. Halosporidians cause infections in marine invertebrates such as Mikrocytos mackini in Pacific oysters. Mikrocytos mackini are abscesses or green pustules on palps and mantles of certain molluscs.[32] ## Archaeplastida[edit] The supergroup Archaeplastida includes red algae, green algae and land plants. Each of these three groups have multicellular species and the green and red algae have many single-celled species. The land plants are not considered protists.[33] Red algae are primarily multicellular, lack flagella, and range in size from microscopic, unicellular to large, multicellular forms. Some species of red algae contain phycoerythrins, photosynthetic accessory pigments that are red in color and outcompete the green tint of chlorophyll, making these species appear as varying shades of red. This group doesn’t include many pathogens.[34] Green algae exhibit similar features to the land plants, particularly in terms of chloroplast structure. The green algae are subdivided into the chlorophytes and charophytes. It is very rare for green algae to become parasitic. Prototheca moriformis belongs to the subdivision Chloroplastida. P. moriformis is a green algae that lacks chlorophyll and has turned to parasitism. It is found in sewage and the soil. P. moriformis causes a disease called protothecosis. This disease mainly infects cattle and dogs. Cattle can be affected by protothecal enteritis and mastitis.[35] Protothecosis is commonly seen in dogs; it enters the body through the mouth or nose and causes infection in the intestines. Treatment with amphotericin B has been reported.[36] ## Future Treatment[edit] Scientists have been researching new ways to fight protozoan infections, including targeting channels and trasporters involved in the diseases[37] and finding the link between a persons microbiome and their ability to resist a protozoan infection[38] ## References[edit] 1. ^ a b c d e f g h Wiley, Sandman, Wood, K, J, D (2020). Prescott's Microbiology. McGraw-Hill Education.CS1 maint: multiple names: authors list (link) 2. ^ "Definition of POLYPHYLETIC". www.merriam-webster.com. Retrieved 2019-11-12. 3. ^ "Definition of CHEMOORGANOTROPHIC". www.merriam-webster.com. Retrieved 2019-11-12. 4. ^ "Excavata \| Biology for Majors II". courses.lumenlearning.com. Retrieved 2019-11-12. 5. ^ "23.3A: Excavata". Lumen Learning. August 15, 2020. Retrieved 15 December 2020. 6. ^ Lin, Audrie; Ercumen, Ayse; Benjamin-Chung, Jade; Arnold, Benjamin F.; Das, Shimul; Haque, Rashidul; Ashraf, Sania; Parvez, Sarker M.; Unicomb, Leanne; Rahman, Mahbubur; Hubbard, Alan E. (2018-10-30). "Effects of Water, Sanitation, Handwashing, and Nutritional Interventions on Child Enteric Protozoan Infections in Rural Bangladesh: A Cluster-Randomized Controlled Trial". Clinical Infectious Diseases. 67 (10): 1515–1522. doi:10.1093/cid/ciy320. ISSN 1058-4838. PMC 6206106. PMID 29669039. 7. ^ Tojo, Santamarina, J.L., M.T. (April 6, 1998). "Oral Pharmacological Treatments for Parasitic Diseases of Rainbow Trout Oncorhynchus Mykiss. I: Hexamita Salmonas" (PDF). Diseases of Aquatic Organisms. 33 (1): 51–56. doi:10.3354/dao033051. PMID 9653458. S2CID 44953491. Retrieved November 12, 2019. 8. ^ "Histomoniasis in Poultry - Poultry". Merck Veterinary Manual. Retrieved 2019-11-12. 9. ^ Yao, C (2013). "Diagnosis of Trichomonas foetus-infected bulls, an ultimate approach to eradicate bovine trichomoniasis in US cattle". J Med Microbiol. 62 (Pt 1): 1–9. doi:10.1099/jmm.0.047365-0. PMID 23082032. 10. ^ "Overview of Trichomoniasis in Cattle - Reproductive System". Merck Veterinary Manual. Retrieved 2019-11-12. 11. ^ "Dientamoeba Fragilis Infection". WebMD. Retrieved 2019-11-12. 12. ^ "Trichomoniasis". medlineplus.gov. Retrieved 2019-11-12. 13. ^ Prevention, CDC-Centers for Disease Control and (2019-02-27). "CDC - Leishmaniasis". www.cdc.gov. Retrieved 2019-11-12. 14. ^ Prevention, CDC-Centers for Disease Control and (2019-02-27). "CDC - Leishmaniasis - Disease". www.cdc.gov. Retrieved 2019-11-12. 15. ^ Prevention, CDC-Centers for Disease Control and (2019-02-27). "CDC - Leishmaniasis - Treatment". www.cdc.gov. Retrieved 2019-11-12. 16. ^ Aronson, Naomi; Herwaldt, Barbara L.; Libman, Michael; Pearson, Richard; Lopez-Velez, Rogelio; Weina, Peter; Carvalho, Edgar; Ephros, Moshe; Jeronimo, Selma; Magill, Alan (2017-01-11). "Diagnosis and Treatment of Leishmaniasis: Clinical Practice Guidelines by the Infectious Diseases Society of America (IDSA) and the American Society of Tropical Medicine and Hygiene (ASTMH)". The American Journal of Tropical Medicine and Hygiene. 96 (1): 24–45. doi:10.4269/ajtmh.16-84256. ISSN 0002-9637. PMC 5239701. PMID 27927991. 17. ^ Prevention, CDC-Centers for Disease Control and (2019-02-27). "CDC - Leishmaniasis - Diagnosis". www.cdc.gov. Retrieved 2019-11-12. 18. ^ "Chagas Disease". medlineplus.gov. Retrieved 2019-11-12. 19. ^ "Chagas disease - Diagnosis and treatment - Mayo Clinic". www.mayoclinic.org. Retrieved 2019-11-12. 20. ^ a b Rawat, Aadish; Singh, Parikshit; Jyoti, Anupam; Kaushik, Sanket; Srivastava, Vijay Kumar (August 2020). "Averting transmission: A pivotal target to manage amoebiasis". Chemical Biology & Drug Design. 96 (2): 731–744. doi:10.1111/cbdd.13699. ISSN 1747-0285. PMID 32356312. 21. ^ "Amebiasis (amebic dysentery)". www.health.ny.gov. Retrieved 2019-11-12. 22. ^ Carrero, Julio C.; Reyes-López, Magda; Serrano-Luna, Jesús; Shibayama, Mineko; Unzueta, Juan; León-Sicairos, Nidia; de la Garza, Mireya (January 2020). "Intestinal amoebiasis: 160 years of its first detection and still remains as a health problem in developing countries". International journal of medical microbiology: IJMM. 310 (1): 151358. doi:10.1016/j.ijmm.2019.151358. ISSN 1618-0607. PMID 31587966. 23. ^ Dans, Leonila F; Martínez, Elizabeth G (2007-01-01). "Amoebic dysentery". BMJ Clinical Evidence. 2007. ISSN 1752-8526. PMC 2943803. PMID 19454043. 24. ^ "Naegleria infection - Symptoms and causes". Mayo Clinic. Retrieved 2019-11-12. 25. ^ "Late Blight" (PDF). plantclinic.cornell.edu. 2018. 26. ^ Adl, Sina M.; Simpson, Alastair G. B.; Lane, Christopher E.; Lukeš, Julius; Bass, David; Bowser, Samuel S.; Brown, Matthew W.; Burki, Fabien; Dunthorn, Micah; Hampl, Vladimir; Heiss, Aaron; Hoppenrath, Mona; Lara, Enrique; le Gall, Line; Lynn, Denis H.; McManus, Hilary; Mitchell, Edward A. D.; Mozley-Stanridge, Sharon E.; Parfrey, Laura W.; Pawlowski, Jan; Rueckert, Sonja; Shadwick, Laura; Schoch, Conrad L.; Smirnov, Alexey; Spiegel, Frederick W. (2012). "The Revised Classification of Eukaryotes". Journal of Eukaryotic Microbiology. Wiley. 59 (5): 429–514. doi:10.1111/j.1550-7408.2012.00644.x. ISSN 1066-5234. PMC 3483872. PMID 23020233. 27. ^ Prevention, CDC-Centers for Disease Control and (2019-06-12). "CDC - Balatidiasis - Biology". www.cdc.gov. Retrieved 2019-11-12. 28. ^ "Balantidiasis \| Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2019-11-12. 29. ^ "Coccidiosis : USDA ARS". www.ars.usda.gov. Retrieved 2019-11-12. 30. ^ "Toxoplasmosis". medlineplus.gov. Retrieved 2019-11-12. 31. ^ "General Information for the Public \| Cryptosporidium \| Parasites \| CDC". www.cdc.gov. 2019-01-07. Retrieved 2019-11-12. 32. ^ "Mikrocytos mackini". EURL for Molluscs Diseases. Retrieved 2019-11-12. 33. ^ "Protists". Basic Biology. Retrieved 2019-11-12. 34. ^ "Archaeplastida \| Biology for Majors II". courses.lumenlearning.com. Retrieved 2019-11-12. 35. ^ Osterstock, Jason B.; Mansell, Joanne L.; Roussel, Allen J. (2005-11-01). "Protothecal enteritis as a cause of protein-losing enteropathy in a bull". Journal of the American Veterinary Medical Association. 227 (9): 1476–1479, 1418. doi:10.2460/javma.2005.227.1476. ISSN 0003-1488. PMID 16279394. 36. ^ Gionfriddo, Juliet R. (2007). An unusual cause of blindness in a Siberian husky. Veterinary Medicine. pp. 172–178. 37. ^ Meier, Anna; Erler, Holger; Beitz, Eric (2018). "Targeting Channels and Transporters in Protozoan Parasite Infections". Frontiers in Chemistry. 6: 88. doi:10.3389/fchem.2018.00088. ISSN 2296-2646. PMC 5881087. PMID 29637069. 38. ^ Burgess, Stacey L.; Gilchrist, Carol A.; Lynn, Tucker C.; Petri, William A. (2017-08-01). "Parasitic Protozoa and Interactions with the Host Intestinal Microbiota". Infection and Immunity. 85 (8). doi:10.1128/IAI.00101-17. ISSN 0019-9567. PMC 5520446. PMID 28584161. ## External links[edit] Classification D * MeSH: D011528 * DiseasesDB: 28851 * SNOMED CT: 95896000 External resources * eMedicine: ped/1914 * v * t * e Amoebozoal diseases Lobosea (free-living) Centramoebida * Acanthamoeba * Acanthamoeba keratitis * Cutaneous acanthamoebiasis * Granulomatous amoebic encephalitis * Acanthamoeba infection * Balamuthia mandrillaris * Balamuthia amoebic encephalitis * Balamuthia infection Flabellinia * Sappinia diploidea/Sappinia pedata * Sappinia amoebic encephalitis Conosa/Archamoebae * Entamoeba histolytica * Amoebiasis * Amoebic dysentery * Amoebic liver abscess * Cutaneous amoebiasis * Amoebic brain abscess * Amebiasis cutis * Entamoeba gingivalis * v * t * e Parasitic disease caused by Excavata protozoa Discicristata Trypanosomatida Trypanosomiasis * T. brucei * African trypanosomiasis * T. cruzi * Chagas disease Leishmaniasis * Leishmania major / L. mexicana / L. aethiopica / L. tropica * Cutaneous leishmaniasis * L. braziliensis * Mucocutaneous leishmaniasis * L. donovani / infantum * Visceral leishmaniasis Schizopyrenida * Naegleria fowleri * Primary amoebic meningoencephalitis Trichozoa Diplomonadida * Giardia lamblia (Giardiasis) Trichomonadida * Trichomonas vaginalis * Trichomoniasis * Dientamoeba fragilis * Dientamoebiasis * v * t * e Protozoan infection: SAR and Archaeplastida SAR Alveolate Apicomplexa Conoidasida/ Coccidia * Coccidia: Cryptosporidium hominis/Cryptosporidium parvum * Cryptosporidiosis * Cystoisospora belli * Isosporiasis * Cyclospora cayetanensis * Cyclosporiasis * Toxoplasma gondii * Toxoplasmosis Aconoidasida * Plasmodium falciparum/vivax/ovale/malariae/knowlesi * Malaria * Blackwater fever * Babesia * Babesiosis Ciliophora * Balantidium coli * Balantidiasis Heterokont * Blastocystis * Blastocystosis * Pythium insidiosum * Pythiosis Archaeplastida * Algaemia: Prototheca wickerhamii * Protothecosis [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-aminobutyric 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	Protozoan infection	c0033740	26,465	wikipedia	https://en.wikipedia.org/wiki/Protozoan_infection	2021-01-18T18:58:51	{"mesh": ["D011528"], "umls": ["C0033740"], "wikidata": ["Q353172"]}
Myelokathexis SpecialtyHematology Myelokathexis is a congenital disorder of the white blood cells that causes severe, chronic leukopenia (a reduction of circulating white blood cells) and neutropenia (a reduction of neutrophil granulocytes).[1] The disorder is believed to be inherited in an autosomal dominant manner.[1][2] Myelokathexis refers to retention (kathexis) of neutrophils in the bone marrow (myelo). The disorder shows prominent neutrophil morphologic abnormalities.[citation needed] Myelokathexis is amongst the diseases treated with bone marrow transplantation and cord blood stem cells.[citation needed] WHIM syndrome is a very rare variant of severe congenital neutropenia that presents with warts, hypogammaglobunemia, infections, and myelokathexis. A gain-of-function mutation resulting in a truncated form of CXCR4 is believed to be its cause. The truncated form of the receptor has a 2-fold increase in G-protein coupled intracellular signalling, and this mutation of the receptor can be identified by DNA sequencing. [3] ## See also[edit] * WHIM syndrome ## References[edit] 1. ^ a b Aprikyan AA, Liles WC, Park JR, Jonas M, Chi EY, Dale DC (Jan 2000). "Myelokathexis, a congenital disorder of severe neutropenia characterized by accelerated apoptosis and defective expression of bcl-x in neutrophil precursors" (Free full text). Blood. 95 (1): 320–327. doi:10.1182/blood.V95.1.320. PMID 10607719. 2. ^ Hord, JD; Whitlock, JA; Gay, JC; Lukens, JN (Sep–Oct 1997). "Clinical features of myelokathexis and treatment with hematopoietic cytokines: a case report of two patients and review of the literature". Journal of Pediatric Hematology/Oncology. 19 (5): 443–448. doi:10.1097/00043426-199709000-00007. PMID 9329467. S2CID 9698904. 3. ^ Hernandez PA, Gorlin RJ, Lukens JN, Taniuchi S, Bohinjec J, Francois F, Klotman ME, Diaz GA (May 2003). "Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease". Nat. Genet. 34 (1): 70–4. doi:10.1038/ng1149. PMID 12692554. S2CID 25010857. ## External links[edit] Classification D * ICD-10: D70 * ICD-9-CM: 288.0 * DiseasesDB: 32164 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-aminobutyric 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	Myelokathexis	c0272173	26,466	wikipedia	https://en.wikipedia.org/wiki/Myelokathexis	2021-01-18T19:09:20	{"umls": ["C0272173"], "icd-9": ["288.0"], "wikidata": ["Q6947329"]}
A number sign (#) is used with this entry because of evidence that susceptibility to epidermodysplasia verruciformis-5 (EV5) is conferred by homozygous mutation in the IL7 gene (146660) on chromosome 8q21. One such family has been reported. Description Epidermodysplasia verruciformis-5 is an autosomal recessive immunologic disorder characterized by onset of warts and verrucous or plaque-like skin lesions associated with HPV infection. Immunologic workup shows T-cell lymphopenia, particularly affecting CD4+ T cells. There is an increased risk of skin malignancy, and some patients may have other symptoms of immune dysfunction (summary by Horev et al., 2015). For a discussion of genetic heterogeneity of susceptibility to epidermodysplasia verruciformis, see EV1 (226400). Clinical Features Horev et al. (2015) reported 3 adult sibs, born of consanguineous Arab parents, with EV5. All patients reported the onset of verrucous skin lesions in their twenties. One of the patients (patient 3) developed recurrent squamous cell carcinomas in early adulthood on sun-exposed areas, and 2 patients (patients 2 and 3) had a history of Cryptococcus neoformans meningitis after age 20 years. Skin samples taken from seborrheic keratosis-like, tinea versicolor-like, and verruca vulgaris-like lesions were positive for HPV3. Immunologic workup showed low total lymphocytes and severe T-cell lymphopenia affecting both CD4+ and CD8+ T cells, although 1 patient (patient 3) had normal CD8+ T-cell counts. Inheritance The transmission pattern of EV5 in the family reported by Horev et al. (2015) was consistent with autosomal recessive inheritance. Molecular Genetics In 3 sibs, born of consanguineous Arab parents, with EV5, Horev et al. (2015) identified a homozygous nonsense mutation in the IL7 gene (R69X; 146660.0001). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Patient serum showed severely decreased or absent IL7 levels compared to controls. Functional studies of the variant were not performed, but it was predicted to result in a loss of function. Patient serum levels of IL7 were very low or undetectable. INHERITANCE \- Autosomal recessive SKIN, NAILS, & HAIR \- Epidermodysplasia verruciformis \- HPV-related warts \- Seborrheic keratosis-like lesions \- Tinea versicolor-like lesions \- Verruca vulgaris-like lesions IMMUNOLOGY \- Increased susceptibility to HPV infections \- T-cell lymphopenia \- Decreased serum levels of IL7 \- Possibly increased risk for opportunistic infections NEOPLASIA \- Increased risk of squamous cell skin cancer on sun-exposed areas MISCELLANEOUS \- Onset in young adulthood \- Three sibs born of consanguineous Arab parents have been reported (last curated January 2019) MOLECULAR BASIS \- Susceptibility conferred by mutation in the interleukin 7 gene (IL7, 146660.0001 ) ▲ 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-aminobutyric 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	EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5	c0014522	26,467	omim	https://www.omim.org/entry/618309	2019-09-22T15:42:57	{"mesh": ["D004819"], "omim": ["618309"], "orphanet": ["302"]}
A number sign (#) is used with this entry because of evidence that transient familial neonatal hyperbilirubinemia can be caused by heterozygous or homozygous mutation in the uridine diphosphate-glucuronosyltransferase gene (UGT1A1; 191740) on chromosome 2q37. Mutations in the same gene cause Crigler-Najjar syndrome types I and II (218800, 606785) and Gilbert syndrome (143500). Clinical Features Occasionally, severe neonatal unconjugated hyperbilirubinemia occurs without evident etiologic explanation. Lucey et al. (1960) and Arias et al. (1965) suggested that some of these cases may have a familial basis. The cause of transient neonatal hyperbilirubinemia may be steroidal substances in the plasma and milk of the mother that inhibit conjugation of bilirubin (Lucey et al., 1960). Arias et al. (1965) found a high level of a maternal serum substance that inhibits formation of the glucuronide of direct-reacting bilirubin and O-aminophenol by rat liver slices and homogenates. The inhibitor was present in these mothers in concentrations 4 to 10 times that in other pregnant mothers. The inhibitor is probably a progestational steroid. Arias et al. (1965) made reference to observations on 5 mothers who gave birth to a total of 16 infants, each of whom had severe transient neonatal hyperbilirubinemia. Three of the 16 died of kernicterus, and one was left with quadriplegic cerebral palsy. The mothers do not show hyperbilirubinemia, probably because of a large functional reserve. This is an interesting genetic disease of which there are few examples--one in which the genotype of the mother is responsible for the disease in the infant. Another example is mental retardation in the offspring of women with phenylketonuria (Mabry et al., 1963). The ethnic background of these mothers and the presence or absence of consanguinity in their parents would be of interest. The same condition may be present in unusually high frequency in Yemenite Jews (Sheba, 1964). Khoury et al. (1988) found that the risk of neonatal hyperbilirubinemia in newborns who had one or more prior sibs with this finding was 3.1 times higher than that of newborns who had prior sibs without this finding (10.3% vs 3.6%). ### Breast Milk Jaundice Transient nonhemolytic unconjugated hyperbilirubinemia is observed in breast-fed but not bottle-fed babies of mothers whose breast milk contains pregnane-3(alpha),20(beta)-diol that competitively inhibits hepatic glucuronyltransferase activity in vitro. Serum from these mothers contains no more inhibitory substance than does normal pregnancy serum. Kernicterus has not been observed, probably because severe jaundice does not develop until the seventh to tenth day, when the infant's blood-brain barrier has become relatively impermeable to unconjugated bilirubin (Arias et al., 1964; Arias et al., 1965). Grunebaum et al. (1991) reported a follow-up of 60 infants with breast milk jaundice showing that there were 2 bilirubin peaks, on the fourth and fifth days and on the fourteenth and fifteenth days of life. In infants with uninterrupted breastfeeding, the hyperbilirubinemia disappeared slowly and could still be detected 12 weeks after birth. The familial incidence was 13.9%. Late neurodevelopmental or hearing defects were not observed, thus enabling the pediatrician to encourage continuation of breastfeeding in most cases of healthy infants with breast milk jaundice. Sato et al. (2013) found that 56 (14%) of 401 Japanese neonates who were exclusively breastfed developed hyperbilirubinemia and required phototherapy. Neonates with a 10% or greater loss of body weight since birth had a significantly higher peak bilirubin level and incidence of hyperbilirubinemia, higher frequency of cesarean delivery, and shorter gestational period compared to those with less than 10% loss of body weight. Sex and body weight at birth were not significantly different between the 2 groups. Molecular Genetics Maruo et al. (2000) analyzed 17 breastfed Japanese infants with apparent prolonged jaundice (serum bilirubin greater than 10 mg/dL at age 3 weeks to 1 month). When breastfeeding was stopped, the serum bilirubin levels began to decrease in all cases, but when breastfeeding was resumed, the serum bilirubin concentration again became elevated in some infants. Serum bilirubin levels normalized by the time the infants were 4 months old. Sequencing of UGT1A1 revealed that 8 infants were homozygous and 7 heterozygous for a missense mutation (191740.0016) common in the East Asian population and found in Japanese patients with Gilbert syndrome (143500) or hereditary unconjugated hyperbilirubinemia. The authors suggested that breastfeeding jaundice may be an infantile and inducible phenotype of Gilbert syndrome. Another UGT1A1 missense mutation (191740.0017) was found in one of the homozygotes, an insertion in the TATA box of UGT1A1 (191740.0011) was found in one of the heterozygotes, and an enhancer region mutation (191740.0018) was found in a patient who did not carry the common mutation. Sato et al. (2013) performed UGT1A1 genotyping of a cohort of 401 exclusively breastfed Japanese neonates, 56 (14%) of whom developed hyperbilirubinemia and required phototherapy, and found that the frequency of the G71R polymorphism (191740.0016) was 0.18 and was higher in neonates with body weight loss less than 10%. However, maximal body weight loss during the neonatal period was the only independent risk factor for the development of neonatal hyperbilirubinemia (odds ratio of 1.25). Although presence of the G71R variant was not a significant independent risk factor for neonatal hyperbilirubinemia overall, subgroup analysis revealed that G71R was a risk factor only in neonates with a 5% or greater maximal body weight loss, and the influence correlated with the degree of body weight loss. Sato et al. (2013) suggested that adequate feeding in the neonatal period may overcome the genetic predisposing factor of G71R to neonatal hyperbilirubinemia. Inheritance \- Autosomal recessive Neuro \- Kernicterus \- Cerebral palsy Lab \- Neonatal unconjugated hyperbilirubinemia Skin \- Jaundice ▲ 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-aminobutyric 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	HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL	c0270210	26,468	omim	https://www.omim.org/entry/237900	2019-09-22T16:26:52	{"mesh": ["C562692"], "omim": ["237900"], "icd-10": ["P59.3"], "orphanet": ["2312"], "synonyms": ["Alternative titles", "LUCEY-DRISCOLL SYNDROME"]}
Species of virus Eastern equine encephalitis SpecialtyInfectious disease Symptomshigh fever, muscle pain, altered mental status, headache, meningeal irritation, photophobia, and seizures CausesEastern equine encephalitis virus Risk factorsPeople over the age of 50 or younger than the age of 16 are at greatest risk of developing severe disease.[medical citation needed] Diagnostic methodBrain tissue examination Prognosis35% risk of death[citation needed] Eastern equine encephalitis (EEE), commonly called Triple E or sleeping sickness (not to be confused with African trypanosomiasis), is a disease caused by a zoonotic mosquito vectored Togavirus that is present in North, Central, and South America, and the Caribbean. EEE was first recognized in Massachusetts, United States, in 1831, when 75 horses died mysteriously of viral encephalitis. Epizootics in horses have continued to occur regularly in the United States. It can also be identified in donkeys and zebras. Due to the rarity of the disease, its occurrence can cause economic impact beyond the cost of horses and poultry.[1] EEE is found today in the eastern part of the United States and is often associated with coastal plains. It can most commonly be found in East Coast and Gulf Coast states.[2] In Florida, about one to two human cases are reported a year, although over 60 cases of equine encephalitis are reported. In years in which conditions are favorable for the disease, the number of equine cases is over 200.[3] Diagnosing equine encephalitis is challenging because many of the symptoms are shared with other illnesses and patients can be asymptomatic. Confirmations may require a sample of cerebral spinal fluid or brain tissue, although CT scans and MRI scans are used to detect encephalitis. This could be an indication that the need to test for EEE is necessary. If a biopsy of the cerebral spinal fluid is taken, it is sent to a specialized laboratory for testing.[4] Eastern equine encephalitis virus (EEEV) is closely related to Venezuelan equine encephalitis virus and western equine encephalitis virus. ## Contents * 1 Signs and symptoms * 2 Cause * 2.1 Virus * 2.2 Lifecycle * 3 Prevention * 4 Treatment and prognosis * 5 Epidemiology * 5.1 United States * 5.2 Europe * 6 Biological weapon * 7 Other animals * 8 References * 9 Further reading * 10 External links ## Signs and symptoms[edit] The incubation period for Eastern equine encephalitis virus (EEEV) disease ranges from 4 to 10 days. The illness can progress either systematically or encephalitically, depending on the person's age. Encephalitic disease involves swelling of the brain and can be asymptomatic, while the systemic illness occurs very abruptly. Those with the systemic illness usually recover within 1–2 weeks. While the encephalitis is more common among infants, in adults and children, it usually manifests after experiencing the systemic illness.[2] Symptoms include high fever, muscle pain, altered mental status, headache, meningeal irritation, photophobia, and seizures, which occur 3–10 days after the bite of an infected mosquito. Due to the virus's effect on the brain, patients who survive can be left with mental and physical impairments, such as personality disorders, paralysis, seizures, and intellectual impairment.[2] ## Cause[edit] ### Virus[edit] Eastern equine encephalitis virus Colourised TEM micrograph of a mosquito salivary gland: The virus particles (virions) are coloured red. (83,900x magnification) Virus classification (unranked): Virus Realm: Riboviria Kingdom: Orthornavirae Phylum: Kitrinoviricota Class: Alsuviricetes Order: Martellivirales Family: Togaviridae Genus: Alphavirus Species: Eastern equine encephalitis virus The causative agent, later identified as a togavirus, was first isolated from infected horse brains in 1933. In 1938, the first confirmed human cases were identified when 30 children died of encephalitis in the Northeastern United States. These cases coincided with outbreaks in horses in the same regions. The fatality rate in humans is 33%, and currently no cure is known for human infections. This virus has four variations in the types in lineage. The most common to the human disease is group 1, which is considered to be endemic in North America and the Caribbean, while the other three lineages, groups IIA, IIB, and III, are typically found in Central and South America, causing equine illness.[2] These two clades may actually be distinct viruses.[5] The North American strains appear to be monotypic with a mutation rate of 2.7 × 10−4 substitutions/site/year (s/s/y). It appears to have diverged from the other strains 922 to 4,856 years ago. The other strains are divided into two main clades and a third smaller one. The two main clades diverged between 577 and 2,927 years ago. The mutation rate in the genome has been estimated to be 1.2 × 10−4 s/s/y. ### Lifecycle[edit] EEEV is capable of infecting a wide range of animals, including mammals, birds, reptiles, and amphibians. The virus is maintained in nature through a bird—mosquito cycle. Two mosquito species are primarily involved in this portion of the cycle; they are Culiseta melanura and Culiseta morsitans [Wikidata]. These mosquitoes feed on the blood of birds. The frequency of the virus found in nature increases throughout the summer as more birds and more mosquitoes become infected. Transmission of EEEV to mammals (including humans) occurs via other mosquito species, which feed on the blood of both birds and mammals. These other mosquitoes are referred to as "bridge vectors" because they carry the virus from the avian hosts to other types of hosts, particularly mammals. The bridge vectors include Aedes taeniorhynchus[6], Aedes vexans, Coquillettidia perturbans, Ochlerotatus canadensis, and Ochlerotatus sollicitans. Ochlerotatus canadensis also frequently bites turtles. Humans, horses, and most other infected mammals do not circulate enough viruses in their blood to infect additional mosquitoes. Some cases of EEE have been contracted through laboratory exposures or from exposure of the eyes, lungs, or skin wounds to brain or spinal cord matter from infected animals. ## Prevention[edit] The disease can be prevented in horses with the use of vaccinations, which are usually given with vaccinations for other diseases, most commonly western equine encephalitis virus, Venezuelan equine encephalitis virus, and tetanus. Most vaccinations for EEE consist of the killed virus. For humans, no vaccine for EEE is available; prevention involves reducing the risk of exposure. Using insect repellent, wearing protective clothing, and reducing the amount of standing water is the best means for prevention.[2] ## Treatment and prognosis[edit] Magnetic resonance images (MRIs) and computed tomography (CT) neuroradiographs showing lesions in brains of three children with eastern equine encephalitis: A) Results of noncontrast CT scan of the brain of patient 12 on hospital day 2; the neuroradiograph shows subtle hypoattenuation of the left caudate head (arrow) and diencephalic region. B) Axial fluid attenuated inversion recovery image from brain MRI scan of patient 14 on hospital day 2; the image shows abnormal T2 hyperintense regions of the bimesial temporal regions (thick arrows) with accompanying abnormal T2 hyperintense regions of the dorsal pontomesencephalic regions (thin arrows). C, D) FLAIR images from brain MRI scan of patient 15 on hospital day 3. C) Abnormal T2 hyperintense caudate and thalamic nuclei, most prominent on the right (arrow). D) Abnormal T2 hyperintense regions are most prominent in the right parietotemporal gray matter (arrow) and subcortical white matter but are also seen scattered throughout. No cure for EEE has been found. Treatment consists of corticosteroids, anticonvulsants, and supportive measures (treating symptoms)[7] such as intravenous fluids, tracheal intubation, and antipyretics.[citation needed] About 4% of humans known to be infected develop symptoms, with a total of about six cases per year in the US.[7] A third of these cases die, and many survivors suffer permanent brain damage.[8] ## Epidemiology[edit] The examples and perspective in this section may not represent a worldwide view of the subject. You may improve this section, discuss the issue on the talk page, or create a new section, as appropriate. (September 2019) (Learn how and when to remove this template message) ### United States[edit] A disease-incidence map for human cases of EEE, 1964–2010 Several states in the Northeast U.S. have had increased virus activity since 2004. Between 2004 and 2006, at least ten human cases of EEE were reported in Massachusetts. In 2006, about 500,000 acres (2,000 km2) in southeastern Massachusetts were treated with mosquito adulticides to reduce the risk of humans contracting EEE. Several human cases were reported in New Hampshire, as well.[9][10] On 19 July 2012, the virus was identified in a mosquito of the species Coquillettidia perturbans in Nickerson State Park on Cape Cod, Massachusetts. On 28 July 2012, the virus was found in mosquitos in Pittsfield, Massachusetts.[11] As of September 2019[update], a notable uptick in cases erupted in New England and Michigan, prompting some health departments to declare an outbreak.[12][13][14][15][16][17][18] As of 31 October 2019[update], five people died in Michigan,[19][20] three people died in Connecticut,[21] one person died in Rhode Island,[18] one person died in Alabama,[22] one person died in Indiana,[23] and three people died in Massachusetts.[24][25][26] The virus was also found in goats,[27] in turkeys,[28] in deer,[28] and in horses.[29][20][30][18][28] As of September 9, 2020, there were 5 confirmed human cases between Massachusetts and Wisconsin.[31] As of October 9, 2020, one person died in Michigan,[32] and one person died in Wisconsin.[33] ### Europe[edit] In October 2007, a citizen of Livingston, West Lothian, Scotland became the first European victim of this disease. The man had visited New Hampshire during the summer of 2007, on a fishing vacation, and was diagnosed as having EEE on 13 September 2007. He fell ill with the disease on 31 August 2007, just one day after flying home, and later fell into a coma.[34] He later awoke from the coma with severe brain injuries.[35] ## Biological weapon[edit] EEEV was one of more than a dozen agents that the United States researched as potential biological weapons before the nation suspended its biological-weapons program in 1969, a few years before signing (1972) and then ratifying (1975) the Biological Weapons Convention.[36] ## Other animals[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. (August 2019) (Learn how and when to remove this template message) After inoculation by the vector, the virus travels via lymphatics to lymph nodes, and replicates in macrophages and neutrophils, resulting in lymphopenia, leukopenia, and fever. Subsequent replication occurs in other organs, leading to viremia. Symptoms in horses occur 1–3 weeks after infection, and begin with a fever that may reach as high as 106 °F (41 °C). The fever usually lasts for 24–48 hours.[medical citation needed] Nervous signs appear during the fever that include sensitivity to sound, periods of excitement, and restlessness. Brain lesions appear, causing drowsiness, drooping ears, circling, aimless wandering, head pressing, inability to swallow, and abnormal gait. Paralysis follows, causing the horse to have difficulty raising its head. The horse usually suffers complete paralysis and death 2–4 days after symptoms appear. Mortality rates among horses with the eastern strain range from 70 to 90%.[medical citation needed] ## References[edit] 1. ^ "Eastern Equine Encephalomyelitis" (PDF). United States Department of Agriculture Animal and Plant Health Inspection Service. United States Department of Agriculture (USDA). Retrieved 1 May 2017. 2. ^ a b c d e "Eastern Equine Encephalitis". Centers for Disease Control and Prevention (CDC). Retrieved 30 April 2017. 3. ^ "Eastern Equine Encephalitis". Florida Health. Florida Health. Retrieved 30 April 2017. 4. ^ Deresiewicz RL, Thaler SJ, Hsu L, Zamani AA (1997). "Clinical and neuroradiographic manifestations of eastern equine encephalitis". N. Engl. J. Med. 336 (26): 1867–74. doi:10.1056/NEJM199706263362604. PMID 9197215. 5. ^ Arrigo NC, Adams AP, Weaver SC (January 2010). "Evolutionary patterns of eastern equine encephalitis virus in North versus South America suggest ecological differences and taxonomic revision". J. Virol. 84 (2): 1014–25. doi:10.1128/JVI.01586-09. PMC 2798374. PMID 19889755. 6. ^ Kelser, R.A. (1937). "Transmission of the Virus of Equine Encephalomy-elîtis by Aëdes taeniorhynchus". Science (Washington). 85–2198 (2198): 178. Bibcode:1937Sci....85..178K. doi:10.1126/science.85.2198.178. PMID 17732932 – via cabdirect.org. 7. ^ a b "Eastern Equine Encephalitis". Centers for Disease Control and Prevention (CDC). 16 August 2010. Retrieved 7 August 2012. 8. ^ "Eastern Equine Encephalitis Fact Sheet". Centers for Disease Control and Prevention (CDC). 16 August 2010. Retrieved 30 August 2015. 9. ^ Zheng Y (16 August 2008). "Mosquito-borne virus infects 2d in Mass". The Boston Globe. 10. ^ Zheng Y (31 August 2006). "Middleborough boy with EEE dies". The Boston Globe. Archived from the original on 2 September 2006. Retrieved 31 August 2006. 11. ^ Kane T (27 July 2012). "Rare, deadly virus found in mosquitoes in Pittsfield". News10. Archived from the original on 30 July 2012. 12. ^ Andersen T, McDonald D (6 September 2019). "Two more EEE human cases reported, raising the state's count to seven". The Boston Globe. Archived from the original on 14 November 2019. Retrieved 6 September 2019. 13. ^ "Why Is EEE Highest In Southeastern Massachusetts?". CBS Boston. 22 August 2019. Retrieved 22 August 2019. 14. ^ "Second Human Case Of EEE Confirmed In Mass.; 10 More Towns Now At Critical Risk". CBS Boston. 16 August 2019. Retrieved 22 August 2019. 15. ^ Seltz J (13 August 2019). "It's code red for EEE in nine communities south of Boston". The Boston Globe. Retrieved 22 August 2019. 16. ^ Congi S (13 August 2019). "Massachusetts man infected with EEE now in coma, family says". WCVB-TV. Retrieved 22 August 2019. 17. ^ LaPook J (21 September 2019). "7 dead from rare disease spread by mosquitoes". CBS News. Retrieved 21 September 2019. 18. ^ a b c Almasy S (2 October 2019). "Connecticut Eastern equine encephalitis death is 10th nationwide". CNN. Archived from the original on 14 November 2019. Retrieved 14 November 2019. 19. ^ Miller K (2 October 2019). "Fourth person dies from mosquito-borne illness in Michigan". mlive. Retrieved 3 October 2019. 20. ^ a b Mahieu D (15 October 2019). "Fifth person in Michigan dies from Eastern Equine Encephalitis". UpNorthLive. Archived from the original on 14 November 2019. Retrieved 14 November 2019. 21. ^ Cuda A (1 September 2019). "Third person in state dies from EEE". Connecticut Post. Retrieved 16 October 2019. 22. ^ Gore L (28 October 2019). "Mosquito-borne virus kills 1 in Alabama: What to know about EEE". al. Archived from the original on 14 November 2019. Retrieved 14 November 2019. 23. ^ "1st Eastern Equine Encephalitis Human Death Reported in Indiana". News18. 20 October 2019. Archived from the original on 14 November 2019. Retrieved 14 November 2019. 24. ^ Klein A (26 September 2019). "Mass. Health Officials Say 12th Person Has EEE, 1 Fewer Death". NBC10 Boston. Archived from the original on 14 November 2019. Retrieved 14 November 2019. 25. ^ Pescaro M, Klein A (25 September 2019). "UPDATE: Mass. Health Officials Give New Info on EEE-Related Deaths". NBC10 Boston. Archived from the original on 14 November 2019. Retrieved 14 November 2019. 26. ^ "Mass. retracts number of EEE deaths; confirms 12th human case of virus". The Boston Globe. 26 September 2019. Archived from the original on 14 November 2019. Retrieved 14 November 2019. 27. ^ Anderson DJ (17 August 2019). "A 2nd Person In Mass. Is Diagnosed With Mosquito-Linked EEE Disease". WBUR-FM. Retrieved 22 August 2019. 28. ^ a b c "Pennsylvania Game Commission advises hunters to take precautions against EEE virus". Pittsburgh Tribune-Review. 22 October 2019. Archived from the original on 14 November 2019. Retrieved 14 November 2019. 29. ^ "18 Louisiana Horses Confirmed Positive for EEE or WNV". The Horse. 21 August 2019. Retrieved 22 August 2019. 30. ^ Mulder J (1 October 2019). "Eastern equine encephalitis kills another horse in Oswego County". syracuse. Archived from the original on 14 November 2019. Retrieved 14 November 2019. 31. ^ "Michiganders urged to stay indoors as officials race to stop the spread of a dangerous mosquito-borne disease". CNN. Retrieved 26 October 2020. 32. ^ "West Michigan resident with EEE dies". mlive. 2 October 2020. Retrieved 26 October 2020. 33. ^ "Wisconsin woman dies of rare disease carried by mosquitoes". Milwaukee Journal Sentinel. Retrieved 25 October 2020. 34. ^ "Man in coma after mosquito bite". BBC News Online. 8 October 2007. 35. ^ "Family thrilled by recovery of killer virus victim". The Scotsman. 22 December 2007. Retrieved 4 February 2020. 36. ^ "Chemical and Biological Weapons: Possession and Programs Past and Present" (PDF). James Martin Center for Nonproliferation Studies, Middlebury College. March 2008. ## Further reading[edit] * "Eastern Equine Encephalitis". Centers for Disease Control and Prevention (CDC). 17 December 2018. * Source for a portion of this information: Evans, J.W.; Borton, A.; Hintz, H.F.; Van Vleck, L.D. (1977). The Horse. W.H. Freeman. ISBN 978-0716704911. ## External links[edit] Classification D * ICD-10: A83.2 * ICD-9-CM: 062.2 * MeSH: D020242 * "Togaviridae". Virus Pathogen Database and Analysis Resource (ViPR). * Joseph W. 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Brazilian hemorrhagic fever * SABV * Bolivian hemorrhagic fever * MACV * LUJV * CHPV Bunyavirales * Hemorrhagic fever with renal syndrome * DOBV * HTNV * PUUV * SEOV * AMRV * THAIV * Hantavirus pulmonary syndrome * ANDV * SNV Herpesviridae * Murid gammaherpesvirus 4 Bat -borne Filoviridae * BDBV * SUDV * TAFV * Marburg virus disease * MARV * RAVV Rhabdoviridae * Rabies * ABLV * MOKV * DUVV * LBV * CHPV Paramyxoviridae * Henipavirus encephalitis * HeV * NiV Coronaviridae * SARS-related coronavirus * SARS-CoV * MERS-CoV * SARS-CoV-2 Primate -borne Herpesviridae * Macacine alphaherpesvirus 1 Retroviridae * Simian foamy virus * HTLV-1 * HTLV-2 Poxviridae * Tanapox * Yaba monkey tumor virus Multiple vectors Rhabdoviridae * Rabies * RABV * Mokola virus Poxviridae * Monkeypox Taxon identifiers * Wikidata: Q306966 * Wikispecies: Eastern equine encephalitis virus * EoL: 539960 * IRMNG: 11459670 * NCBI: 11021 [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-aminobutyric 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	Eastern equine encephalitis	c0153065	26,469	wikipedia	https://en.wikipedia.org/wiki/Eastern_equine_encephalitis	2021-01-18T19:09:08	{"gard": ["10821"], "mesh": ["D020242"], "umls": ["C0153065"], "orphanet": ["83594"], "wikidata": ["Q18553951"]}
Scratch dermatitis Other namesFlagellate pigmentation from bleomycin SpecialtyDermatology Scratch dermatitis is a cutaneous condition characterized by linear hyperpigmented streaks are seen on the chest and back.[1] ## See also[edit] * Bleomycin * List of cutaneous conditions ## References[edit] 1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. pp. 950–1. ISBN 978-1-4160-2999-1. ## Further reading[edit] * Ibrahimi, Omar A.; Anderson, R. Rox (2010). "Bleomycin-Induced Flagellate Hyperpigmentation". New England Journal of Medicine. 363 (24): e36. doi:10.1056/NEJMicm1002334. ISSN 0028-4793. PMID 21142531. * v * t * e Pigmentation disorders/Dyschromia Hypo-/ leucism Loss of melanocytes Vitiligo * Quadrichrome vitiligo * Vitiligo ponctué Syndromic * Alezzandrini syndrome * Vogt–Koyanagi–Harada syndrome Melanocyte development * Piebaldism * Waardenburg syndrome * Tietz syndrome Loss of melanin/ amelanism Albinism * Oculocutaneous albinism * Ocular albinism Melanosome transfer * Hermansky–Pudlak syndrome * Chédiak–Higashi syndrome * Griscelli syndrome * Elejalde syndrome * Griscelli syndrome type 2 * Griscelli syndrome type 3 Other * Cross syndrome * ABCD syndrome * Albinism–deafness syndrome * Idiopathic guttate hypomelanosis * Phylloid hypomelanosis * Progressive macular hypomelanosis Leukoderma w/o hypomelanosis * Vasospastic macule * Woronoff's ring * Nevus anemicus Ungrouped * Nevus depigmentosus * Postinflammatory hypopigmentation * Pityriasis alba * Vagabond's leukomelanoderma * Yemenite deaf-blind hypopigmentation syndrome * Wende–Bauckus syndrome Hyper- Melanin/ Melanosis/ Melanism Reticulated * Dermatopathia pigmentosa reticularis * Pigmentatio reticularis faciei et colli * Reticulate acropigmentation of Kitamura * Reticular pigmented anomaly of the flexures * Naegeli–Franceschetti–Jadassohn syndrome * Dyskeratosis congenita * X-linked reticulate pigmentary disorder * Galli–Galli disease * Revesz syndrome Diffuse/ circumscribed * Lentigo/Lentiginosis: Lentigo simplex * Liver spot * Centrofacial lentiginosis * Generalized lentiginosis * Inherited patterned lentiginosis in black persons * Ink spot lentigo * Lentigo maligna * Mucosal lentigines * Partial unilateral lentiginosis * PUVA lentigines * Melasma * Erythema dyschromicum perstans * Lichen planus pigmentosus * Café au lait spot * Poikiloderma (Poikiloderma of Civatte * Poikiloderma vasculare atrophicans) * Riehl melanosis Linear * Incontinentia pigmenti * Scratch dermatitis * Shiitake mushroom dermatitis Other/ ungrouped * Acanthosis nigricans * Freckle * Familial progressive hyperpigmentation * Pallister–Killian syndrome * Periorbital hyperpigmentation * Photoleukomelanodermatitis of Kobori * Postinflammatory hyperpigmentation * Transient neonatal pustular melanosis Other pigments Iron * Hemochromatosis * Iron metallic discoloration * Pigmented purpuric dermatosis * Schamberg disease * Majocchi's disease * Gougerot–Blum syndrome * Doucas and Kapetanakis pigmented purpura/Eczematid-like purpura of Doucas and Kapetanakis * Lichen aureus * Angioma serpiginosum * Hemosiderin hyperpigmentation Other metals * Argyria * Chrysiasis * Arsenic poisoning * Lead poisoning * Titanium metallic discoloration Other * Carotenosis * Tar melanosis Dyschromia * Dyschromatosis symmetrica hereditaria * Dyschromatosis universalis hereditaria See also * Skin color * Skin whitening * Tanning * Sunless * Tattoo * removal * Depigmentation This cutaneous condition article is a stub. You can help Wikipedia by expanding it. * v * t * e [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-aminobutyric 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	Scratch dermatitis	None	26,470	wikipedia	https://en.wikipedia.org/wiki/Scratch_dermatitis	2021-01-18T18:30:23	{"wikidata": ["Q7438831"]}
CLN7 disease is an inherited disorder that primarily affects the nervous system. The signs and symptoms of this condition typically begin between ages 2 and 7. The initial features usually include recurrent seizures (epilepsy) and the loss of previously acquired skills (developmental regression). Affected children also develop muscle twitches (myoclonus), difficulty coordinating movements (ataxia), speech impairment, and vision loss. Mental functioning and motor skills (such as sitting and walking) decline with age. Individuals with CLN7 disease typically do not survive past their teens. CLN7 disease is one of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs), which may also be collectively referred to as Batten disease. All these disorders affect the nervous system and typically cause worsening problems with vision, movement, and thinking ability. The different NCLs are distinguished by their genetic cause. Each disease type is given the designation "CLN," meaning ceroid lipofuscinosis, neuronal, and then a number to indicate its subtype. ## Frequency The incidence of CLN7 disease is unknown; more than 70 cases have been described in the scientific literature. CLN7 disease was first diagnosed in the Turkish population and was thought to be limited to individuals in that group. However, CLN7 disease has now been identified in people around the world. Collectively, all forms of NCL affect an estimated 1 in 100,000 individuals worldwide. ## Causes Mutations in the MFSD8 gene cause CLN7 disease. The MFSD8 gene provides instructions for making a protein whose function is unknown. The MFSD8 protein is embedded in the membrane of cell compartments called lysosomes, which digest and recycle different types of molecules. Based on the structure of the protein, MFSD8 probably transports molecules across the lysosomal membrane, but the specific molecules it moves have not been identified. MFSD8 gene mutations likely lead to the production of a protein with altered structure or function. It is unclear how an altered MFSD8 protein leads to the severe neurological features of CLN7 disease. CLN7 disease, like other NCLs, is characterized by the accumulation of proteins and other substances in lysosomes. These accumulations occur in cells throughout the body; however, nerve cells seem to be particularly vulnerable to their effects. These accumulations can cause cell damage leading to cell death. Individuals with CLN7 disease have gradual nerve cell loss in certain parts of the brain, which likely leads to the signs and symptoms of this condition. ### Learn more about the gene associated with CLN7 disease * MFSD8 ## Inheritance Pattern This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-aminobutyric 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	CLN7 disease	c1838571	26,471	medlineplus	https://medlineplus.gov/genetics/condition/cln7-disease/	2021-01-27T08:24:43	{"gard": ["1220"], "mesh": ["C563989"], "omim": ["610951"], "synonyms": []}
The ductus venosus is a bypass between the umbilical vein and the inferior vena cava in the fetal circulation. Uchino et al. (1996) noted that functional closure of the ductus venosus starts immediately after birth when the blood pressure in the umbilical vein decreases. Complete functional closure of the ductus venosus occurs in 93% of infants at 2 weeks of age, and this is followed by anatomic closure. Congenital portosystemic venous shunt (PSVS) can result from patent ductus venosus (PDV). Uchino et al. (1996) described 3 Japanese brothers with progressive deterioration of hepatic function and fatty degeneration of the liver eventually leading to hepatic encephalopathy. Each of them had a congenital intrahepatic portosystemic venous shunt due to a patent ductus venosus. Liver dysfunction and hepatic steatosis reverted to normal with surgical correction of the ductus venosus. These observations suggested that impairment of liver function occurs first in the presence of malnutrition related to a reduction of blood in the portal vein. Hepatic steatosis is a consequence of depleted metabolism of hepatocytes. Congenital portosystemic venous shunt due to a patent ductus venosus appeared to have a genetic background in this family. The parents were nonconsanguineous. Of the 3 brothers, the middle-aged one was first diagnosed. He was well until age 3 years, when his appetite decreased. At the age of 3 years he showed unconsciousness after a febrile episode. Hyperammonemia without hepatosplenomegaly was discovered. Surgical closure of the ductus venosus was performed at age 3 years. At the age of 5 years, the oldest of the 3 brothers had been noted to have transient stupor and nausea after eating meat. Surgical correction of the ductus venosus was performed at age 5.5 years. The youngest of the 3 brothers was found to have elevated serum acid levels at age 5 months. Ultrasonography detected a PDV anatomically similar to that of the 2 older brothers. The shunt ratio was estimated to be 77% by per-rectal portal scintigraphy. Microscopically the liver showed mild fatty degeneration. Uchino et al. (1996) reported that the youngest of the 3 sibs had a high level of blood galactose without enzyme deficiency. This was found on neonatal screening and was an important clue for the diagnosis of PSVS. Gitzelmann et al. (1992) described hypergalactosemia and portosystemic encephalopathy due to persistence of ductus venosus Arantii. Jacob et al. (1999) reported 3 adult brothers with patent ductus venosus. The proband was a 43-year-old man with a history of panhypopituitarism who presented with recurrent bouts of pedal edema associated with fatigue, hypoalbuminemia, and elevated prothrombin time. Ultrasound demonstrated attenuation of the main portal vein with diminished intrahepatic branches; CT scan with angiography showed a large collateral vein within the liver consistent with patent ductus venosus. His younger brother, who had been diagnosed with alcohol-related cirrhosis, suffered from intermittent bouts of encephalopathy and was found to have the same vascular lesion. A third brother was found to have patent ductus venosus as well as 2 large hepatic masses consistent with focal nodular hyperplasia. Autosomal recessive or X-linked recessive inheritance was postulated. Animal Model PSVS is common in dogs where the clinical picture is similar to that in the sibs described by Uchino et al. (1996); the dogs develop encephalopathy at a young age and the liver is small with fatty infiltration. Once the shunt vessel is ligated, biochemical findings and fatty liver improve immediately and the liver grows to normal size (Whiting and Peterson, 1993). PSVS in dogs is known to be autosomal without sex predilection (Meyer and Rothuizen, 1991). Inheritance \- ? Autosomal recessive Neuro \- Hepatic encephalopathy Lab \- Hyperammonemia \- Elevated blood galactose without enzyme deficiency GI \- Progressive deterioration of hepatic function \- Fatty degeneration of the liver Vascular \- Patent ductus venosus \- Congenital portosystemic venous shunt (PSVS) ▲ 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-aminobutyric 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	PATENT DUCTUS VENOSUS	c0344688	26,472	omim	https://www.omim.org/entry/601466	2019-09-22T16:14:42	{"mesh": ["C562830"], "omim": ["601466"], "synonyms": ["Alternative titles", "PORTOSYSTEMIC VENOUS SHUNT, CONGENITAL"]}
Bruck syndrome is characterised by the association of osteogenesis imperfecta and congenital joint contractures. ## Epidemiology Prevalence is unknown but less than 40 cases have been reported in the literature so far. ## Clinical description Features include osteoporosis and bone fragility, progressive joint contractures sometimes associated with pterygia, wormian bones, scoliosis due to vertebral deformities and short stature. Mental development is normal. ## Etiology The syndrome is genetically heterogeneous: the locus was mapped to chromosome 17p12 in one family (Bruck syndrome 1) but mutations in the PLOD2 gene (3q24) encoding telopeptide lysyl hydroxylase (Bruck syndrome 2) have been identified in other affected individuals. ## Genetic counseling Transmission is 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-aminobutyric 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	Bruck syndrome	c0432253	26,473	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2771	2021-01-23T18:33:09	{"gard": ["1029"], "omim": ["259450", "609220"], "umls": ["C0432253", "C1836602", "C1850168"], "icd-10": ["M21.8"], "synonyms": ["Osteogenesis imperfecta-congenital joint contractures syndrome"]}
A rare primary germ cell tumor of central nervous system characterized by a lesion typically in the region of the pineal gland and the suprasellar compartment, composed of cytotrophoblastic elements and multinucleated syncytiotrophoblastic giant cells. Ectatic stromal vascular channels, blood lakes, and extensive hemorrhagic necrosis are the rule. The tumor usually arises in the second decade of life and predominantly in males. Clinical presentation depends on location and size and includes signs of increased intracranial pressure, visual disturbances, and endocrine abnormalities. Prognosis is generally poor. [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-aminobutyric 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	Choriocarcinoma of the central nervous system	None	26,474	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=252015	2021-01-23T17:56:35	{}
A number sign (#) is used with this entry because of evidence that MEND syndrome (MEND) is caused by hemizygous mutation in the EBP gene (300205) on chromosome Xp11. Mutation in the EBP gene can also cause the X-linked dominant disorder chondrodysplasia punctata-2 (CDPX2; 302960), which shows some overlapping features. CDPX2 in males almost always results from postzygotic mosaicism for an EBP mutation. Description Male EBP disorder with neurologic defects is an X-linked recessive disorder representing a continuous phenotypic spectrum with variable manifestations associated with a defect in sterol biosynthesis. Features include intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities. Not all patients show all features, and the severity is highly variable. Molecular studies indicate that affected males are hemizygous for a nonmosaic hypomorphic EBP allele. Carrier females are generally clinically asymptomatic, but may show biochemical abnormalities (summary by Arnold et al., 2012 and Barboza-Cerda et al., 2014). Clinical Features Milunsky et al. (2003) reported a 2.5-year-old Caucasian male with developmental delay, hypotonia, seizures, and patchy hypopigmentation of the skin. Multiple congenital anomalies included a unilateral cataract, esotropia, crossed renal ectopia, stenotic ear canals, and failure to thrive. The patient also had dysmorphic features, including excess nuchal fold with long neck, asymmetric 'crying mouth,' simple philtrum, micrognathia, high-arched palate, bulbous nasal tip, low-set posteriorly rotated ears with overfolded helices, and upslanting narrow palpebral fissures. He also had long fingers, broad halluces, a sacral dimple, overlapping fingers, and toes, and widely spaced nipples. Neurologic examination showed axial hypotonia and extremity hypertonia with opisthotonic posturing and persistent Moro response. No skeletal asymmetry or chondrodysplasia punctata was noted on skeletal survey at 6 weeks and 13 months of age. The levels of 8(9)-cholestenol and 8-dehydrocholesterol were mildly increased in plasma and in cultured fibroblasts. The patient's mother had normal stature, no asymmetry, and no cataracts, but did have a patch of hyperpigmentation on her chest, best visualized on Woods lamp examination, as well as otosclerosis, characteristic of a mild form of CDPX2. Happle (2003) and Ikegawa (2004) commented on the report of Milunsky et al. (2003). Furtado et al. (2010) reported a male infant with multiple congenital anomalies first detected in utero, including polyhydramnios, agenesis of the corpus callosum, Dandy-Walker malformation, and cardiac malformations such as aortic stenosis, ventricular septal defect, and hypoplastic aortic arch. After birth, he was noted to have dysmorphic features, including waxy-appearing skin, cataracts, short-nasal root, micrognathia, cleft palate, single transverse palmar crease, syndactyly of the second and third toes, and undescended testes. Brain imaging showed ventriculomegaly, small nodular foci lining the subependymal region of the lateral ventricles, simplified gyral patterning, and hypoplasia of the corpus callosum. Radiographs did not show stippling of the epiphyses. Biochemical studies showed increased plasma 8(9)-cholestenol and 8-dehydrocholesterol, consistent with an enzymatic deficiency of EBP. The patient died of cardiac failure at 24 days of age. The maternal family history was strongly suggestive of an X-linked recessive disorder with several infant males demonstrating Dandy-Walker malformation, dysgenesis of the corpus callosum, hydrocephalus, cataracts, cryptorchidism, ichthyotic skin, septal defects, and high nasal bridge. Two infant brothers from an unrelated family had a similar disorder resulting in death by 13 months of age. Clinical features included Dandy-Walker malformation, agenesis of the corpus callosum, cryptorchidism, cataracts, collodian skin, 2,3-toe syndactyly, cardiovascular anomalies, and craniofacial anomalies including a prominent nasal bridge, small low-set ears, and microretrognathia. The mother in each family was unaffected. Arnold et al. (2012) proposed that the phenotype described by Milunsky et al. (2003) and Furtado et al. (2010) be designated MEND syndrome (male EBP disorder with neurologic defects). Barboza-Cerda et al. (2013) reported a 5-generation Mexican family in which 8 males had a similar multiple congenital anomaly disorder; 4 adult patients were examined clinically. All had variable delayed psychomotor development and intellectual disability. Facial dysmorphic features included narrow forehead, midface hypoplasia, broad nose, flat philtrum, thick lips, and low-set ears. Skeletal anomalies included short stature, scoliosis, variable polydactyly, brachydactyly, and syndactyly. Brain imaging of 1 patient showed cortical atrophy, olivopontocerebellar hypoplasia, and hypoplasia of the corpus callosum. The patients did not have cataracts or dermatologic abnormalities. Hartill et al. (2014) reported a family in which 4 males had X-linked developmental delay and severe behavioral difficulties. Behavioral abnormalities included hyperactivity, aggression, attention-seeking behavior, outbursts, and self-harm. More variable features included scoliosis and 2-3 toe syndactyly; 2 patients had seizures. A 43-year-old patient had mild dysmorphic features, including long thin nose with high nasal bridge, long face, and deep-set eyes. Brain imaging performed in 2 patients was normal. Laboratory studies showed increased 8-dehydrocholesterol. Patient fibroblasts showed increased concentrations of 8(9)-cholestenol which could be suppressed when cells were incubated with simvastatin, and 2 of the patients were started on treatment with simvastatin. Hartill et al. (2014) noted the phenotypic differences in this family compared to previous reports of males with hemizygous nonmosaic EBP mutations. Inheritance The transmission pattern of MEND syndrome in the families reported by Furtado et al. (2010) was consistent with X-linked recessive inheritance. Mapping By linkage analysis of a Mexican family with X-linked recessive intellectual disability, short stature, and digital abnormalities, Barboza-Cerda et al. (2013) found linkage to a 15.74-Mb region on chromosome Xp11.4-p11.21 (lod scores of 3.6 to 4.8) between markers DXS8015 and DXS991. Molecular Genetics In a 2.5-year-old Caucasian male with developmental delay, hypotonia, seizures, and patchy hypopigmentation of the skin, Milunsky et al. (2003) described a hemizygous nonmosaic missense mutation in the EBP gene (L18P; 300205.0013). The patient's mother, who was adopted, also carried the L18P mutation. Happle (2003) suggested that this was a hypomorphic mutation, asserting that a nonmosaic male with a CDPX2-associated EBP mutation cannot survive. In 2 unrelated male infants with MEND syndrome, Furtado et al. (2010) identified a hemizygous missense mutation in the EBP gene (W47C; 300205.0014). Each unaffected mother was heterozygous for the mutation; functional studies were not performed. In affected members of a Mexican family with MEND syndrome, originally reported by Barboza-Cerda et al. (2013), Barboza-Cerda et al. (2014) identified a hemizygous missense mutation in the EBP gene (I75N; 300205.0016). The mutation was found by X-chromosome exome sequencing and confirmed by Sanger sequencing; it was present in 2 affected males tested and in the unaffected mother. Functional studies of the variant were not performed, but the mutation carriers had increased plasma 8(9)-cholestenol and 8-dehydrocholesterol, consistent with an enzymatic defect. Barboza-Cerda et al. (2014) concluded that this was a hypomorphic mutation. In 4 affected males from a family with MEND syndrome, Hartill et al. (2014) identified a hemizygous missense mutation in the EBP gene (W47R; 300205.0017). In vitro functional expression studies showed that the mutant protein was hypomorphic. Obligate female carriers were unaffected. INHERITANCE \- X-linked recessive GROWTH Height \- Short stature HEAD & NECK Face \- Microretrognathia \- Midface hypoplasia Ears \- Low-set ears Eyes \- Cataracts Nose \- High nasal bridge \- Short nasal root Mouth \- High-arched palate CARDIOVASCULAR Heart \- Cardiac malformations \- Aortic stenosis GENITOURINARY External Genitalia (Male) \- Cryptorchidism SKELETAL Spine \- Scoliosis Kyphosis Hands \- Digital anomalies \- Polydactyly \- Overlapping fingers \- Long fingers Feet \- 2-3 toe syndactyly \- Overlapping toes SKIN, NAILS, & HAIR Skin \- Collodion skin changes \- Ichthyosis \- Pigmentary abnormalities MUSCLE, SOFT TISSUES \- Hypotonia NEUROLOGIC Central Nervous System \- Delayed psychomotor development (in all patients) \- Intellectual disability (in all patients) \- Hypertonia of the extremities \- Seizures \- Hydrocephalus \- Dandy-Walker malformation \- Hypoplasia or agenesis of the corpus callosum Behavioral Psychiatric Manifestations \- Behavioral difficulties \- Aggressive outbursts \- Hyperactivity LABORATORY ABNORMALITIES \- Increased plasma 8-dihydrocholesterol and 8(9)-cholestenol MISCELLANEOUS \- Highly variable phenotype \- Phenotype is due to hypomorphic nonmosaic mutation in the EBP gene MOLECULAR BASIS \- Caused by mutation in the emopamil-binding protein gene (EBP, 300205.0013 ) ▲ 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-aminobutyric 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	MEND SYNDROME	c4085243	26,475	omim	https://www.omim.org/entry/300960	2019-09-22T16:19:13	{"omim": ["300960"], "orphanet": ["401973"], "synonyms": ["MALE EBP DISORDER WITH NEUROLOGIC DEFECTS", "Alternative titles", "Male EBP disorder with neurological defects"]}
A rare hematologic disease characterized by high serum viscosity due to polyclonal expansion of immunoglobulins, most commonly in the context of Waldenström's macroglobulinemia, as well as a variety of disorders of immune dysregulation. Patients present with signs and symptoms involving multiple organs, such as bleeding diathesis, mucosal bleeding, retinal hemorrhage, headache, stroke, pulmonary hypertension, and congestive heart failure. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-aminobutyric 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	Polyclonal hyperviscosity syndrome	None	26,476	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=450322	2021-01-23T17:04:59	{"icd-10": ["D89.0"]}
A rare primary lymphedema characterized by bilateral, painless lower limb swelling present at birth. Prominent veins around the ankles and on the dorsa of the feet, dysplastic and upslanting toenails due to edema of the nailbed, and subtle dysmorphic facial features (such as high forehead, hypertelorism, depressed nasal bridge, mild bilateral ear dysplasia, and short neck) have also been described. The degree of lymphatic impairment is milder than in the otherwise clinically similar Milroy disease, as evidenced by slightly less severe lymphedema and significantly more uptake of tracers on lymphoscintigraphy. [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-aminobutyric 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	Congenital primary lymphedema of Gordon	None	26,477	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=569821	2021-01-23T17:01:31	{"synonyms": ["VEGFC-related congenital primary lymphedema"]}
This article has multiple issues. Please help improve it or discuss these issues on the talk page. (Learn how and when to remove these template messages) 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: "Chorioamnionitis" – news · newspapers · books · scholar · JSTOR (July 2018) (Learn how and when to remove this template message) This article may need to be rewritten to comply with Wikipedia's quality standards. You can help. The talk page may contain suggestions. (July 2018) This article needs editing for compliance with Wikipedia's Manual of Style. Please help improve it if you can. (July 2018) (Learn how and when to remove this template message) (Learn how and when to remove this template message) Chorioamnionitis Micrograph showing chorioamnionitis. The clusters of blue dots are inflammatory cells (neutrophils, eosinophils and lymphocytes). H&E stain. SpecialtyObstetrics and gynaecology Chorioamnionitis, also known as intra-amniotic infection (IAI), is an inflammation of the fetal membranes (amnion and chorion) most commonly due to a bacterial infection.[1] Recently, experts have suggested using the term intrauterine inflammation or infection or both (Triple I) instead of the term chorioamnionitis, as a way to illustrate that chorioamnionitis can not be automatically confirmed if the mother simply only has a fever.[2] In addition, it is not automatically a reason to begin antibiotics.[2] Chorioamnionitis typically results from an infection caused by bacteria ascending from the vagina into the uterus but is also associated with premature or prolonged labor.[3] It triggers an inflammatory response to release various inflammatory signaling molecules that leads to increased prostaglandin and metalloprotease release. These substances promote uterine contractions and cervical ripening which causes premature birth.[4] The risk of developing chorioamnionitis increases with number of vaginal examinations performed in the final month of pregnancy, including during labor, as well as with tobacco and alcohol use.[5] Prevention of chorioamnionitis can occur by administering antibiotics if the amniotic sac bursts prematurely.[6] Chorioamnionitis can also be caught early by looking at signs and symptoms such as fever, abdominal pain, or abnormal vaginal excretion.[7] ## Contents * 1 Signs and symptoms * 2 Causes * 2.1 Microorganisms * 2.2 Obstetric and other * 3 Anatomy * 4 Diagnosis * 4.1 Pathologic * 4.2 Suspected clinical diagnosis * 4.3 Confirmed diagnosis * 5 Prevention * 6 Treatment * 6.1 Supportive measures * 7 Outcomes * 7.1 Complications * 7.1.1 Maternal complications * 7.1.2 Fetal complications * 7.1.3 Neonatal complications * 8 Epidemiology * 9 See also * 10 Notes * 11 References * 12 External links ## Signs and symptoms[edit] The signs and symptoms of clinical chorioamnionitis can include fever, leukocytosis (>15,000 cells/mm³), maternal (>100 bpm)[8] or fetal (>160 bpm) tachycardia, uterine tenderness and preterm rupture of membranes.[2] ## Causes[edit] Causes of chorioamnionitis have been found to stem from microorganism infection as well as obstetric and other related factors.[3][5] ### Microorganisms[edit] Bacterial, viral, and even fungal infections have been found to cause chorioamnionitis with the most common occurring from Ureaplasma, Fusobacterium, and Streptococcus bacteria species. Less commonly, Gardnerella, Mycoplasma, and Bacteroids bacterial species, as well as sexually transmitted infections of chlamydia and gonorrhea, have been implicated in the development of the condition as well.[5] Studies are continuing to identify other microorganism classes and species as infection sources.[9] ### Obstetric and other[edit] In addition to microorganism causes, birthing-related events, lifestyle, and ethnic background have been linked to an increase in the risk of developing chorioamnionitis.[9] Premature deliveries, ruptures of the membranes of the amniotic sac, prolonged labors, and first time giving birth have been associated with this condition.[10] At term women who experience a combination of pre-labor membrane ruptures and multiple invasive vaginal examinations, prolonged labors, or have meconium appear in the amniotic fluid are at higher risk than at term women experiencing just one of those events.[9] In other studies, smoking, alcohol use and drug use have been noted as risk factors in addition to an increased risk for those of African American ethnicity.[5][10] ## Anatomy[edit] The chorion and amnion membranes are labelled in this depiction of a growing fetus in the uterus. The amniotic sac consists of two parts: * The outer membrane is the chorion. It is closest to the mother and physically supports the much thinner amnion. * The chorion is the last and outermost of the membranes that make up the amniotic sac.[11] * The inner membrane is the amnion. It is in direct contact with the amniotic fluid, which surrounds the fetus. * The amniotic fluid exists within the amnion, and is where the fetus is able to grow and develop.[11] * The swelling of the amnion and chorion is characteristic of chorioamnionitis, occurring when bacteria makes its way into the amniotic fluid and creates an infection within the amniotic fluid.[1] ## Diagnosis[edit] Intermediate magnification micrograph of moderate chorioamnionitis. H&E stain. ### Pathologic[edit] Chorioamnionitis can be diagnosed from a histologic (tissue) examination of the fetal membranes.[10] Of note, confirmed histologic chorioamnionitis without any clinical symptoms is termed subclinical chorioamnionitis and is more common than symptomatic clinical chorioamnionitis.[2] Infiltration of the chorionic plate by neutrophils is diagnostic of (mild) chorioamnionitis. More severe chorioamnionitis involves subamniotic tissue and may have fetal membrane necrosis and/or abscess formation.[1] Severe chorioamnionitis may be accompanied by vasculitis of the umbilical blood vessels (due to the fetus' inflammatory cells) and, if very severe, funisitis (inflammation of the umbilical cord's connective tissue).[10] ### Suspected clinical diagnosis[edit] When intrapartum (meaning during delivery) fever is higher than 39.0 °C, a suspected diagnosis of chorioamnionitis can be made. Alternatively, if intrapartum fever is between 38.0 °C and 39.0 °C, an additional risk factor must be present to make a presumptive diagnosis of chorioamnionitis. Additional risk factors include:[12] * Fetal tachycardia * Maternal leukocytosis (>15,000 cells/mm³)[13] * Purulent cervical drainage ### Confirmed diagnosis[edit] Diagnosis is typically not confirmed until after delivery. However, people with confirmed diagnosis and suspected diagnosis have the same post-delivery treatment regardless of diagnostic status. Diagnosis can be confirmed histologically or through amniotic fluid test results such as gram staining, glucose levels, or other culture results are consistent with infection.[12] ## Prevention[edit] If the amniotic sac breaks early into pregnancy, the potential of introducing bacteria in the amniotic fluid can increase, yet administering antibiotics maternally can potentially prevent chorioamnionitis and allow for a longer pregnancy.[6] In addition, it has been shown that it is not necessary to deliver the fetus quickly after chorioamnionitis is diagnosed, so a C-section is not necessary unless it is necessary for maternal reasons.[10] However, research has found that beginning labor early at approximately 34 weeks can lessen the likelihood of fetal death, and reduce the potential for excessive infection within the mother.[10] In addition, providers should interview people suspected to have chorioamnionitis about whether they are experiencing signs and symptoms at scheduled obstetrics visits during pregnancy, including whether the individual has experienced excretion vaginally, whether the individual reports signs of being febrile, or if their abdominal area has been in pain.[7] ## Treatment[edit] The American College of Obstetricians and Gynecologists' Committee Opinion proposes the use of antibiotic treatment in intrapartum mothers with suspected or confirmed chorioamnionitis and maternal fever without an identifiable cause.[12] Intrapartum antibiotic treatment consists of:[14] * Standard * Ampicillin + gentamicin * Alternative * Ampicillin-Sulbactam * Ticarcillin-Clavulanate * Cefoxitine * Cefotetan * Piperacillin-Tazobactum * Ertapenum * Cesarean delivery * Ampicillin and gentamicin plus either clindamycin or metronidazole * Penicillin-allergy * Vancomycin + gentamicin * Gentamicin + clindamycin However, there is not enough evidence to support the most efficient antimicrobial regimen,[15] starting the treatment during the intrapartum period is more effective than starting it postpartum; it shortens the hospital stay for the mother and the neonate.[16] There is currently not enough evidence to dictate how long antibiotic therapy should last. Completion of treatment/cure is only considered after delivery.[14] ### Supportive measures[edit] Acetaminophen is often used for treating fevers and may be beneficial for fetal tachycardia. There is possibly also an increased likelihood for neonatal encephalopathy when mothers have intrapartum fever.[10] ## Outcomes[edit] Chorioamnionitis has been found to have possible associations with numerous neonatal conditions. Among possible outcomes, intrapartum (during labor) chorioamnionitis may be associated with neonatal pneumonia, meningitis, sepsis, and death, as well as with long-term infant complications like bronchopulmonary dysplasia and cerebral palsy.[17] Furthermore, histological chorioamnionitis may increase the likelihood of newborn necrotizing enterocolitis, where one or more sections of the bowel die. This may occur because the fetal gut barrier becomes compromised and is more susceptible to conditions like infection and sepsis.[18] In addition to these possible associations, chorioamnionitis may act as a risk factor for premature birth and periventricular leukomalacia.[19] ### Complications[edit] This section 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: "Chorioamnionitis" – news · newspapers · books · scholar · JSTOR (July 2018) (Learn how and when to remove this template message) For mother and fetus, chorioamnionitis may lead to further short and long-term issues when microbes move to different areas or trigger the inflammatory response.[10] #### Maternal complications[edit] * Higher risk for C-section * Postpartum hemorrhage * Endometritis[20] * Bacteremia (often due to Group B streptococcus and Escherichia coli)[10] * Pelvic abscess Mothers with chorioamnionitis who undergo a C-section may be more likely to develop pelvic abscesses, septic pelvic thrombophlebitis, and infections at the surgical site.[9] #### Fetal complications[edit] * Fetal death * Neonatal sepsis #### Neonatal complications[edit] * Perinatal death * Asphyxia * Early onset neonatal sepsis[21] * Septic shock * Neonatal pneumonia In the long-term, infants may be more likely to experience cerebral palsy or neurodevelopmental disabilities, which seems to be related to the activation of the fetal inflammatory response syndrome (FIRS) when the fetus is exposed to infected amniotic fluid or other foreign entities.[4][10] This systemic response results in neutrophil and cytokine release that can impair the fetal brain and other vital organs.[4][6] Compared to infants with clinical chorioamnionitis, it appears cerebral palsy may occur at a higher rate for those with histologic chorioamnionitis. However, more research needs to be done to examine this association.[22] There is also concern about the impact of FIRS on infant immunity as this is a critical time for growth and development. For instance, it may be linked to chronic inflammatory disorders, such as asthma.[23] ## Epidemiology[edit] Chorioamnionitis is approximated to occur in about 4%[7] of births in the United States. However, many other factors can increase the risk of chorioamnionitis. For example, in births with premature rupture of membranes (PROM), between 40 and 70% involve chorioamnionitis. Furthermore, clinical chorioamnionitis is implicated in 12% of all cesarean deliveries. Some studies have shown that the risk of chorioamnionitis is higher in those of African American ethnicity, those with immunosuppression, and those who smoke, use alcohol, or abuse drugs.[10] ## See also[edit] * Chronic deciduitis * Funisitis * Placentitis * Wharton's jelly ## Notes[edit] 1. ^ a b c Kim CJ, Romero R, Chaemsaithong P, Chaiyasit N, Yoon BH, Kim YM (October 2015). "Acute chorioamnionitis and funisitis: definition, pathologic features, and clinical significance". American Journal of Obstetrics and Gynecology. 213 (4 Suppl): S29-52. doi:10.1016/j.ajog.2015.08.040. PMC 4774647. PMID 26428501. 2. ^ a b c d Peng CC, Chang JH, Lin HY, Cheng PJ, Su BH (June 2018). "Intrauterine inflammation, infection, or both (Triple I): A new concept for chorioamnionitis". Pediatrics and Neonatology. 59 (3): 231–237. doi:10.1016/j.pedneo.2017.09.001. PMID 29066072. 3. ^ a b Cheng YW, Delaney SS, Hopkins LM, Caughey AB (November 2009). "The association between the length of first stage of labor, mode of delivery, and perinatal outcomes in women undergoing induction of labor". American Journal of Obstetrics and Gynecology. 201 (5): 477.e1–7. doi:10.1016/j.ajog.2009.05.024. PMID 19608153. 4. ^ a b c Galinsky R, Polglase GR, Hooper SB, Black MJ, Moss TJ (2013). "The consequences of chorioamnionitis: preterm birth and effects on development". Journal of Pregnancy. 2013: 412831. doi:10.1155/2013/412831. PMC 3606792. PMID 23533760. 5. ^ a b c d Sweeney EL, Dando SJ, Kallapur SG, Knox CL (January 2017). "The Human Ureaplasma Species as Causative Agents of Chorioamnionitis". Clinical Microbiology Reviews. 30 (1): 349–379. doi:10.1128/CMR.00091-16. PMC 5217797. PMID 27974410. 6. ^ a b c Ericson JE, Laughon MM (March 2015). "Chorioamnionitis: implications for the neonate". Clinics in Perinatology. 42 (1): 155–65, ix. doi:10.1016/j.clp.2014.10.011. PMC 4331454. PMID 25678002. 7. ^ a b c Fowler JR, Simon LV (October 2019). "Chorioamnionitis.". StatPearls [Internet]. StatPearls Publishing. PMID 30335284. 8. ^ Sung JH, Choi SJ, Oh SY, Roh CR (June 2019). "Should the diagnostic criteria for suspected clinical chorioamnionitis be changed?". The Journal of Maternal-Fetal & Neonatal Medicine. 0: 1–10. doi:10.1080/14767058.2019.1618822. PMID 31084245. 9. ^ a b c d Czikk MJ, McCarthy FP, Murphy KE (September 2011). "Chorioamnionitis: from pathogenesis to treatment". Clinical Microbiology and Infection. 17 (9): 1304–11. doi:10.1111/j.1469-0691.2011.03574.x. PMID 21672080. 10. ^ a b c d e f g h i j k Tita AT, Andrews WW (June 2010). "Diagnosis and management of clinical chorioamnionitis". Clinics in Perinatology. 37 (2): 339–54. doi:10.1016/j.clp.2010.02.003. PMC 3008318. PMID 20569811. 11. ^ a b "28.2 Embryonic Development - Anatomy and Physiology \| OpenStax". openstax.org. Retrieved 2020-07-29. 12. ^ a b c "Committee Opinion No. 712 Summary: Intrapartum Management of Intraamniotic Infection". Obstetrics and Gynecology. 130 (2): 490–492. August 2017. doi:10.1097/AOG.0000000000002230. PMID 28742671. 13. ^ Zanella P, Bogana G, Ciullo R, Zambon A, Serena A, Albertin MA (June 2010). "[Chorioamnionitis in the delivery room]". Minerva Pediatrica. 62 (3 Suppl 1): 151–3. PMID 21090085. 14. ^ a b Tita AT. "Intraamniotic infection (clinical chorioamnionitis or triple I)". UpToDate. Retrieved 2 July 2018. 15. ^ Hopkins L, Smaill F (2002). "Antibiotic regimens for management of intraamniotic infection". The Cochrane Database of Systematic Reviews (3): CD003254. doi:10.1002/14651858.CD003254. PMC 6669261. PMID 12137684. 16. ^ Chapman E, Reveiz L, Illanes E, Bonfill Cosp X (December 2014). Reveiz L (ed.). "Antibiotic regimens for management of intra-amniotic infection". The Cochrane Database of Systematic Reviews (12): CD010976. doi:10.1002/14651858.CD010976.pub2. PMID 25526426. 17. ^ "Intrapartum Management of Intraamniotic Infection". www.acog.org. Retrieved 2020-07-28. 18. ^ Been JV, Lievense S, Zimmermann LJ, Kramer BW, Wolfs TG (February 2013). "Chorioamnionitis as a risk factor for necrotizing enterocolitis: a systematic review and meta-analysis". The Journal of Pediatrics. 162 (2): 236–42.e2. doi:10.1016/j.jpeds.2012.07.012. PMID 22920508. 19. ^ Wu YW, Colford JM (September 2000). "Chorioamnionitis as a risk factor for cerebral palsy: A meta-analysis". JAMA. 284 (11): 1417–24. doi:10.1001/jama.284.11.1417. PMID 10989405. 20. ^ Casey BM, Cox SM (March 1997). "Chorioamnionitis and endometritis". Infectious Disease Clinics of North America. 11 (1): 203–22. doi:10.1016/S0891-5520(05)70349-4. PMID 9067792. 21. ^ Bersani I, Thomas W, Speer CP (April 2012). "Chorioamnionitis--the good or the evil for neonatal outcome?". The Journal of Maternal-Fetal & Neonatal Medicine. 25 (Suppl 1): 12–6. doi:10.3109/14767058.2012.663161. PMID 22309119. S2CID 11109172. 22. ^ Shi Z, Ma L, Luo K, Bajaj M, Chawla S, Natarajan G, et al. (June 2017). "Chorioamnionitis in the Development of Cerebral Palsy: A Meta-analysis and Systematic Review". Pediatrics. 139 (6): e20163781. doi:10.1542/peds.2016-3781. PMC 5470507. PMID 28814548. 23. ^ Sabic D, Koenig JM (January 2020). "A perfect storm: fetal inflammation and the developing immune system". Pediatric Research. 87 (2): 319–326. doi:10.1038/s41390-019-0582-6. PMID 31537013. S2CID 202702137. ## References[edit] * Verani JR, McGee L, Schrag SJ (November 2010). "Prevention of perinatal group B streptococcal disease--revised guidelines from CDC, 2010". MMWR. Recommendations and Reports. 59 (RR-10): 1–36. PMID 21088663. ## External links[edit] Classification D * ICD-10: O41.1, P02.7 * ICD-10-CM: O41.12 * ICD-9-CM: 658.4, 762.7 * MeSH: D002821 * DiseasesDB: 31882 External resources * eMedicine: ped/89 * Overview at Cleveland Clinic. * Cerebral palsy inflammation link (29 November 2003) at BBC. * v * t * e Pathology of pregnancy, childbirth and the puerperium Pregnancy Pregnancy with abortive outcome * Abortion * Ectopic pregnancy * Abdominal * Cervical * Interstitial * Ovarian * Heterotopic * Embryo loss * Fetal resorption * Molar pregnancy * Miscarriage * Stillbirth Oedema, proteinuria and hypertensive disorders * Gestational hypertension * Pre-eclampsia * HELLP syndrome * Eclampsia Other, predominantly related to pregnancy Digestive system * Acute fatty liver of pregnancy * Gestational diabetes * Hepatitis E * Hyperemesis gravidarum * Intrahepatic cholestasis of pregnancy Integumentary system / dermatoses of pregnancy * Gestational pemphigoid * Impetigo herpetiformis * Intrahepatic cholestasis of pregnancy * Linea nigra * Prurigo gestationis * Pruritic folliculitis of pregnancy * Pruritic urticarial papules and plaques of pregnancy (PUPPP) * Striae gravidarum Nervous system * Chorea gravidarum Blood * Gestational thrombocytopenia * Pregnancy-induced hypercoagulability Maternal care related to the fetus and amniotic cavity * amniotic fluid * Oligohydramnios * Polyhydramnios * Braxton Hicks contractions * chorion / amnion * Amniotic band syndrome * Chorioamnionitis * Chorionic hematoma * Monoamniotic twins * Premature rupture of membranes * Obstetrical bleeding * Antepartum * placenta * Circumvallate placenta * Monochorionic twins * Placenta accreta * Placenta praevia * Placental abruption * Twin-to-twin transfusion syndrome Labor * Amniotic fluid embolism * Cephalopelvic disproportion * Dystocia * Shoulder dystocia * Fetal distress * Locked twins * Nuchal cord * Obstetrical bleeding * Postpartum * Pain management during childbirth * placenta * Placenta accreta * Preterm birth * Postmature birth * Umbilical cord prolapse * Uterine inversion * Uterine rupture * Vasa praevia Puerperal * Breastfeeding difficulties * Low milk supply * Cracked nipples * Breast engorgement * Childbirth-related posttraumatic stress disorder * Diastasis symphysis pubis * Postpartum bleeding * Peripartum cardiomyopathy * Postpartum depression * Postpartum psychosis * Postpartum thyroiditis * Puerperal fever * Puerperal mastitis Other * Concomitant conditions * Diabetes mellitus * Systemic lupus erythematosus * Thyroid disorders * Maternal death * Sexual activity during pregnancy * Category * v * t * e Conditions originating in the perinatal period / fetal disease Maternal factors complicating pregnancy, labour or delivery placenta * Placenta praevia * Placental insufficiency * Twin-to-twin transfusion syndrome chorion/amnion * Chorioamnionitis umbilical cord * Umbilical cord prolapse * Nuchal cord * Single umbilical artery presentation * Breech birth * Asynclitism * Shoulder presentation Growth * Small for gestational age / Large for gestational age * Preterm birth / Postterm pregnancy * Intrauterine growth restriction Birth trauma * scalp * Cephalohematoma * Chignon * Caput succedaneum * Subgaleal hemorrhage * Brachial plexus injury * Erb's palsy * Klumpke paralysis Affected systems Respiratory * Intrauterine hypoxia * Infant respiratory distress syndrome * Transient tachypnea of the newborn * Meconium aspiration syndrome * Pleural disease * Pneumothorax * Pneumomediastinum * Wilson–Mikity syndrome * Bronchopulmonary dysplasia Cardiovascular * Pneumopericardium * Persistent fetal circulation Bleeding and hematologic disease * Vitamin K deficiency bleeding * HDN * ABO * Anti-Kell * Rh c * Rh D * Rh E * Hydrops fetalis * Hyperbilirubinemia * Kernicterus * Neonatal jaundice * Velamentous cord insertion * Intraventricular hemorrhage * Germinal matrix hemorrhage * Anemia of prematurity Gastrointestinal * Ileus * Necrotizing enterocolitis * Meconium peritonitis Integument and thermoregulation * Erythema toxicum * Sclerema neonatorum Nervous system * Perinatal asphyxia * Periventricular leukomalacia Musculoskeletal * Gray baby syndrome * muscle tone * Congenital hypertonia * Congenital hypotonia Infections * Vertically transmitted infection * Neonatal infection * rubella * herpes simplex * mycoplasma hominis * ureaplasma urealyticum * Omphalitis * Neonatal sepsis * Group B streptococcal infection * Neonatal conjunctivitis Other * Miscarriage * Perinatal mortality * Stillbirth * Infant mortality * Neonatal withdrawal [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-aminobutyric 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	Chorioamnionitis	c0008495	26,478	wikipedia	https://en.wikipedia.org/wiki/Chorioamnionitis	2021-01-18T18:43:05	{"mesh": ["D002821"], "umls": ["C0008495"], "icd-9": ["762.7", "56.9"], "icd-10": ["O41.1", "P02.7"], "wikidata": ["Q473739"]}
A number sign (#) is used with this entry because of evidence that transient neonatal hyperparathyroidism (HRPTTN) is caused by homozygous or compound heterozygous mutation in the TRPV6 (606680) on chromosome 7q34. Description Transient neonatal hyperparathyroidism is characterized by interference with placental maternal-fetal calcium transport, causing fetal calcium deficiency resulting in hyperparathyroidism and metabolic bone disease. Because 80% of calcium is transferred during the third trimester, abnormalities may not be detected on second-trimester ultrasounds. Affected infants present at birth with prenatal fractures, shortened ribs, and bowing of long bones, as well as respiratory and feeding difficulties. Postnatal recovery or improvement is observed once calcium is provided orally, with most patients showing complete resolution of skeletal abnormalities by 2 years of age (Suzuki et al., 2018). Clinical Features Suzuki et al. (2018) reported 6 unrelated children with skeletal abnormalities detected in the third trimester of pregnancy, who presented at birth with elevated serum PTH and alkaline phosphatase activity, with normal or low ionized calcium. Skeletal anomalies included generalized osteopenia, narrow chest, short ribs with multiple healing fractures, and bowing or fractures of long bones. All affected individuals experienced postnatal respiratory difficulties requiring ventilatory support in the first few weeks to months of life. In addition, most showed poor feeding, with some requiring tube feeding. Complete resolution of skeletal abnormalities occurred by 2 years of age in 5 patients; the remaining patient (subject 6) was substantially improved but still showed abnormalities at age 3 years. The latter patient also had persistent respiratory difficulties and underwent tracheostomy for continued ventilatory support at night. Molecular Genetics In 6 unrelated children with transient neonatal hyperparathyroidism, Suzuki et al. (2018) identified homozygosity or compound heterozygosity for mutations in the TRPV6 gene (see, e.g., 606680.0001-606680.0006). INHERITANCE \- Autosomal recessive RESPIRATORY Lung \- Respiratory distress at birth \- Small lung volumes CHEST External Features \- Narrow chest Ribs Sternum Clavicles & Scapulae \- Healing prenatal rib fractures \- Multiple rib deformities \- Short ribs \- Thin ribs ABDOMEN Gastrointestinal \- Poor feeding (requiring feeding tube in some patients) SKELETAL \- Generalized osteopenia Limbs \- Femoral bowing \- Short long bones (in some patients) \- Long bone fractures (in some patients) NEUROLOGIC Central Nervous System \- Motor delay \- Language delay (in some patients) ENDOCRINE FEATURES \- Elevated parathyroid hormone PRENATAL MANIFESTATIONS Amniotic Fluid \- Polyhydramnios LABORATORY ABNORMALITIES \- Normal or low calcium \- Normal phosphorus \- Elevated alkaline phosphatase \- Elevated 1,25-dihydroxyvitamin D \- Low 25-OH vitamin D MISCELLANEOUS \- Skeletal anomalies detected prenatally on third trimester ultrasound \- Skeletal defects resolve in the first few years of life MOLECULAR BASIS \- Caused by mutation in the transient receptor potential cation channel, subfamily V, member-6 gene (TRPV6, 606680.0001 ) ▲ 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-aminobutyric 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	HYPERPARATHYROIDISM, TRANSIENT NEONATAL	c1832615	26,479	omim	https://www.omim.org/entry/618188	2019-09-22T15:43:13	{"mesh": ["C563375"], "omim": ["618188"], "orphanet": ["417"]}
## Clinical Features In 10 members of 5 generations of a family, Flynn and Aird (1965) observed a neuroectodermal syndrome with some similarities to the syndromes of Werner (277700), Refsum (266500), and Cockayne (216400). Features included the following: in the eye, cataracts, atypical retinitis pigmentosa, and myopia; in the ear, bilateral progressive sensorineural hearing loss beginning as early as age 7; in the nervous system, ataxia, peripheral neuritis, epilepsy, elevation of cerebrospinal fluid protein and dementia; in the ectoderm, skin atrophy, chronic ulceration, baldness and striking dental caries; in the skeletal system, cystic changes of bone and joint stiffness. Inheritance Male-to-male transmission occurred in 3 instances in the family reported by Flynn and Aird (1965), suggesting autosomal dominant inheritance. Radiology \- Increased bone density with cystic changes \- Osteoporosis \- Kyphoscoliosis Neuro \- Aphasia \- Ataxia \- Peripheral neuritis \- Seizures \- Dementia Inheritance \- Autosomal dominant Teeth \- Severe dental caries Ears \- Bilateral progressive sensorineural hearing loss Eyes \- Myopia \- Cataracts \- Atypical retinitis pigmentosa Joints \- Joint stiffness Misc \- Onset as early as age 7 Lab \- Elevated cerebrospinal fluid protein Hair \- Baldness Skin \- Skin atrophy \- Hyperkeratosis \- Chronic ulceration ▲ 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-aminobutyric 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	FLYNN-AIRD SYNDROME	c0343108	26,480	omim	https://www.omim.org/entry/136300	2019-09-22T16:40:59	{"mesh": ["C537066"], "omim": ["136300"], "orphanet": ["2047"]}
Nevus of Ota is an oculodermal melanocytosis more commonly found in Asian and African populations, usually present at birth and characterized by a usually unilateral, bluish gray, patchy, speckled pigmentation (that may progressively enlarge and darken) affecting the skin of the face along the distribution of the ophthalmic and maxillary divisions of the trigeminal nerve (periorbital region, temple, forehead, malar area, nose). In 2/3 cases the ipsilateral sclera is affected. Nevus of Ota usually remains stable once adulthood is reached but an increased risk of glaucoma and uveal melanoma may be observed. Extracutaneous lesions may also occur in cornea, retina, tympanum, nasal mucosa, pharynx, palate. Nevus of Ota occurs as solitary conditions but seldom may occur together with the nevus of Ito or nevus spilus. [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-aminobutyric 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	Nevus of Ota	c0027961	26,481	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=263425	2021-01-23T17:57:31	{"mesh": ["D009507"], "umls": ["C0027961"], "icd-10": ["D22.3"], "synonyms": ["Nevus fusculoceruleus ophthalmomaxillaris"]}
Verloes and Koulischer (1992) reported the case of a woman with absence of the medial part of the upper alveolar ridge, including the gingiva, frenulum, and tooth buds for the maxillary incisors and canines. The designation Verloes-Koulischer oroacral (VKOA) syndrome was suggested in the London dysmorphology database. Cohen (1992) reported the case of a boy with absent maxillary incisors and canines and asymmetric defects of the hands and left first and second toes. The facial appearance in these 2 cases were similar, with a receding upper lip and relative mandibular prognathism. Neither had a cleft of the palate or lip, or anomaly of the tongue. De Silva and Verloes (1998) described a 9-year-old Sinhalese boy with similar findings: midface hypoplasia with a depressed upper lip and relative mandibular prognathism; absence of the upper midline alveolus, frenulum, and gingiva; absent maxillary incisors and right canine; absent left second and third digits with a soft tissue nubbin at the position of the index finger and the third finger with a malformed proximal phalanx only. A vascular etiology causing secondary disruption of an area of the maxilla and the tooth buds as well as the limbs was suggested in the previous cases and was compatible with the mechanism sometimes evoked for amniotic bands syndrome (217100), Hanhart syndrome (103300), and the induced limb defects occurring as a complication of chorionic villus sampling (Lipson and Webster, 1993). [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-aminobutyric 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	OROACRAL SYNDROME, VERLOES-KOULISCHER TYPE	c1863879	26,482	omim	https://www.omim.org/entry/603446	2019-09-22T16:13:04	{"mesh": ["C566374"], "omim": ["603446"]}
## Clinical Features Gendrot et al. (1994) reported a French family in which 9 persons had moderate mental deficiency and poor speech in 3 generations. Some of the patients had facial dysmorphism, epilepsy, and macroorchidism. Mapping By linkage analysis in a family segregating mental retardation, Gendrot et al. (1994) found no recombination between the disease locus, designated MRX14, and 2 loci: DXS255 at Xp11.22 (maximum lod = 3.31 at theta = 0) and PGKP1 at Xq11.2-q12 (maximum lod = 3.08 at theta = 0). In a note added in proof, Gendrot et al. (1994) stated that they had found a recombination with MAOB (309860) at Xp11.3, reducing the linkage interval to Xp11.3-q13.3. GU \- Macroorchidism Neuro \- Moderate mental deficiency \- Poor speech \- Epilepsy Facies \- Facial dysmorphism Inheritance \- X-linked ▲ 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-aminobutyric 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	MENTAL RETARDATION, X-LINKED 14	c2931498	26,483	omim	https://www.omim.org/entry/300062	2019-09-22T16:20:55	{"doid": ["0050776"], "mesh": ["C567906"], "omim": ["300062"], "orphanet": ["777"]}
Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. ## Epidemiology The syndrome is exceedingly rare and has been reported in only a few patients to date. Male and female patients have been described. ## Clinical description The main clinical features of Fountain syndrome include moderate to severe intellectual deficit, congenital sensorineural hearing impairment, and broad, stubby hands and feet. A coarse face with full lips and cheeks is also found. These signs are reported to become more prominent with age. Additional reported signs are early-onset, generalized seizures, short stature, large head circumference, and remarkable behavior (friendly demeanor). ## Etiology The etiology of Fountain syndrome has not been elucidated. ## Genetic counseling The pattern 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-aminobutyric 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	Fountain syndrome	c0795944	26,484	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3219	2021-01-23T18:58:07	{"gard": ["64"], "mesh": ["C537270"], "omim": ["229120"], "umls": ["C0795944"], "icd-10": ["Q87.8"], "synonyms": ["Deafness-skeletal dysplasia-coarse face with full lips syndrome", "Deafness-skeletal dysplasia-lip granuloma syndrome", "Hearing loss-skeletal dysplasia-coarse face with full lips syndrome", "Hearing loss-skeletal dysplasia-lip granuloma syndrome"]}
Central precocious puberty (CPP), also referred to as gonadotropin dependent precocious puberty, is an endocrine-related developmental disease characterized by the onset of pubertal changes, with development of secondary sexual characteristics and accelerated growth and bone maturation, before the normal age of puberty (8 years in girls and 9 years in boys). ## Epidemiology The prevalence of CPP has been evaluated at approximately 1/ 500 girls and 1/ 2,000 boys in Denmark. Girls are more affected than boys, with an overall male to female ratio of at least 1:10. ## Clinical description CPP can have a progressive or a non progressive course. In progressive CPP (40% of cases), pubertal changes include acceleration of growth and bone maturation, premature unilateral or bilateral breast development leading to early menarche in girls, and testicular and penile enlargement with development of facial and sexual hair in boys. Pubic and axillary hair growth can be observed. In non-progressive CPP (rather referred to as non progressive PP), pubertal changes either do not progress or regress after a few months, and growth acceleration and bone maturation are not observed. ## Etiology CPP is due to premature activation of the hypothalamic-pituitary-gonadal (HPG) axis. It is idiopathic or secondary to hypothalamic lesions such as tumors (hypothalamic hamartoma, glioma, astrocytoma), CNS infections (meningitis, encephalitis) (see these terms), brain malformations (hydrocephalus, arachnoid cysts), trauma and injuries. Some cases of CPP have been linked to mutations in the imprinted makorin ring finger 3 MKRN3(15q11.2) gene that has a potential inhibitory effect on gonadotropin releasing-hormone (GnRH) secretion and a very limited number of cases have been reported which seem to be linked to mutations in the KiSS-1 metastasis-suppressor KISS1 (1q32) and kisspeptin-receptor KISS1R (19p13.3) genes. ## Diagnostic methods Diagnosis is suspected upon physical examination and pelvic ultrasonography showing increased uterine length and increased uterine and ovarian volume in girls. It is confirmed by screening of basal luteinizing hormone LH levels (<0.1 IU/l being indicative of a prepubertal stage, 1 to 2 IU/l indicative of progressive CPP), and measurement of gonadotropin levels after stimulation tests using gonadotropin releasing hormone (GnRH) or its analog (GnRHa) leuprolide. ## Differential diagnosis Differential diagnosis includes gonadotropin-independent precocious puberty (including familial male-limited precocious puberty, McCune-Albright syndrome (see these terms)), gonadal tumours, and benign premature thelarche or pubarche. ## Genetic counseling Most cases are sporadic. Familial cases show an autosomal dominant mode of transmission with incomplete, gender-dependent penetrance. The MKRN3 gene is imprinted and mutations causing CPP have been parternally inherited so far. ## Management and treatment Non progressive PP does not require therapy. Treatment of progressive CPP relies on the use of GnRH agonists (leuprorelin, triptorelin, histrelin). Puberty-related signs subsequently regress rapidly and adult size is usually improved. Treatments are interrupted around the normal age of pubertal development. ## Prognosis CPP can have a psychological effect during childhood. The disease has minimal consequence during adulthood, although the association of variation of pubertal timing with adult disease or behavior has been questioned. [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-aminobutyric 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	Central precocious puberty	c0342543	26,485	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=759	2021-01-23T18:22:03	{"mesh": ["D011629"], "omim": ["176400", "615346"], "umls": ["C0342543"], "icd-10": ["E22.8"], "synonyms": ["CPP", "Gonadotropin-dependant precocious puberty"]}
Dowton et al. (1985) found that at least 22 members of a large kindred had a bleeding tendency resulting from an autosomal dominant disorder of platelet production and function. Phenotypic features included mild to moderate thrombocytopenia, prolonged bleeding time, and abnormal platelet aggregation. Platelet survival time was normal. The disorder seemed to be separate from any known thrombocytopenic or thrombocytopathic syndrome. Hematologic neoplasms had developed in 6 family members; 2 had neuroblastoma (256700). The authors listed a considerable number of reported families with an autosomal dominant platelet disorder of ill-defined or undefined nature. Oncology \- Hematologic neoplasms \- Neuroblastoma Inheritance \- Autosomal dominant Lab \- Thrombocytopenia \- Prolonged bleeding time \- Abnormal platelet aggregation \- Normal platelet survival time Heme \- Bleeding tendency ▲ 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-aminobutyric 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	PLATELET DISORDER, UNDEFINED	c1868258	26,486	omim	https://www.omim.org/entry/173420	2019-09-22T16:36:10	{"mesh": ["C566799"], "omim": ["173420"]}
A rare genetic disease characterized by choanal atresia and early onset of lymphedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum. [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-aminobutyric 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	Lymphedema-posterior choanal atresia syndrome	c3150875	26,487	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99141	2021-01-23T17:27:16	{"omim": ["613611"], "icd-10": ["Q82.0"]}
Otofacioosseous-gondadal syndrome was the designation proposed by da-Silva et al. (1997) for a seemingly new syndrome with probable autosomal recessive inheritance, which they observed in 2 sons and possibly a daughter of first-cousin parents. The syndrome consisted of sensorineural deafness, short stature, cryptorchidism, inguinal hernia, brachycephaly, prominent forehead, flat face, downslanting palpebral fissures, low nasal root, hypoplastic alae and round tip to the nose, low-set prominent ears, narrow thorax, genu valgum, wormian bones, fusion of carpal bones, delayed bone age, and congenital clubfoot. Skull x-ray demonstrated wormian bones. INHERITANCE \- Autosomal recessive GROWTH Height \- Short stature HEAD & NECK Head \- Brachycephaly Face \- Prominent forehead \- Flat face Ears \- Sensorineural deafness \- Low set ears \- Prominent ears \- Posteriorly rotated ears Eyes \- Downslanting palpebral fissures \- Epicanthal folds Nose \- Low nasal root \- Hypoplastic nasal alae \- Round nasal tip CHEST External Features \- Narrow thorax Ribs Sternum Clavicles & Scapulae \- Pectus excavatum GENITOURINARY External Genitalia (Male) \- Inguinal hernia Internal Genitalia (Male) \- Cryptorchidism SKELETAL \- Delayed bone age Skull \- Wormian bones Limbs \- Genu valgum Hands \- Carpal bone fusion Feet \- Clubfeet \- Short halluces ▲ 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-aminobutyric 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	OTOFACIOOSSEOUS-GONADAL SYNDROME	c1865988	26,488	omim	https://www.omim.org/entry/601976	2019-09-22T16:14:08	{"mesh": ["C566597"], "omim": ["601976"]}
22q13.3 deletion syndrome, which is also known as Phelan-McDermid syndrome, is a disorder caused by the loss of a small piece of chromosome 22. The deletion occurs near the end of the chromosome at a location designated q13.3. The features of 22q13.3 deletion syndrome vary widely and involve many parts of the body. Characteristic signs and symptoms include developmental delay, moderate to profound intellectual disability, decreased muscle tone (hypotonia), and absent or delayed speech. Some people with this condition have autism or autistic-like behavior that affects communication and social interaction, such as poor eye contact, sensitivity to touch, and aggressive behaviors. They may also chew on non-food items such as clothing. Less frequently, people with this condition have seizures or lose skills they had already acquired (developmental regression). Individuals with 22q13.3 deletion syndrome tend to have a decreased sensitivity to pain. Many also have a reduced ability to sweat, which can lead to a greater risk of overheating and dehydration. Some people with this condition have episodes of frequent vomiting and nausea (cyclic vomiting) and backflow of stomach acids into the esophagus (gastroesophageal reflux). People with 22q13.3 deletion syndrome typically have distinctive facial features, including a long, narrow head; prominent ears; a pointed chin; droopy eyelids (ptosis); and deep-set eyes. Other physical features seen with this condition include large and fleshy hands and/or feet, a fusion of the second and third toes (syndactyly), and small or abnormal toenails. Some affected individuals have rapid (accelerated) growth. ## Frequency More than 2,200 people have been diagnosed with 22q13.3 deletion syndrome worldwide. ## Causes 22q13.3 deletion syndrome is caused by a deletion near the end of the long (q) arm of chromosome 22. The signs and symptoms of 22q13.3 deletion syndrome are probably related to the loss of multiple genes in this region. The size of the deletion varies among affected individuals. A ring chromosome 22 can also cause 22q13.3 deletion syndrome. A ring chromosome is a circular structure that occurs when a chromosome breaks in two places, the tips of the chromosome are lost, and the broken ends fuse together. People with ring chromosome 22 have one copy of this abnormal chromosome in some or all of their cells. Researchers believe that several critical genes near the end of the long (q) arm of chromosome 22 are lost when the ring chromosome 22 forms. If one of the chromosome break points is at position 22q13.3, people with ring chromosome 22 have similar signs and symptoms as those with a simple deletion. Researchers are working to identify all of the genes that contribute to the features of 22q13.3 deletion syndrome. They have determined that the loss of a particular gene on chromosome 22, SHANK3, is likely to be responsible for many of the syndrome's characteristic signs (such as developmental delay, intellectual disability, and impaired speech). Additional genes in the deleted region probably contribute to the varied features of 22q13.3 deletion syndrome. ### Learn more about the gene and chromosome associated with 22q13.3 deletion syndrome * SHANK3 * chromosome 22 ## Inheritance Pattern Most cases of 22q13.3 deletion syndrome are not inherited. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family, though they can pass the chromosome deletion to their children. When 22q13.3 deletion syndrome is inherited, its inheritance pattern is considered autosomal dominant because a deletion in one copy of chromosome 22 in each cell is sufficient to cause the condition. About 15 to 20 percent of people with 22q13.3 deletion syndrome inherit a chromosome abnormality from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called a balanced translocation, in which a segment from one chromosome has traded places with a segment from another chromosome, but no genetic material is gained or lost. Balanced translocations usually do not cause any health problems; however, they can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Individuals with 22q13.3 deletion syndrome who inherit an unbalanced translocation are missing genetic material from the long arm of chromosome 22, which results in the health problems characteristic of 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-aminobutyric 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	22q13.3 deletion syndrome	c1853490	26,489	medlineplus	https://medlineplus.gov/genetics/condition/22q133-deletion-syndrome/	2021-01-27T08:25:39	{"gard": ["10130"], "mesh": ["C536801"], "omim": ["606232"], "synonyms": []}
Distress due to a mismatch between gender identity and sex assigned at birth Gender dysphoria Other namesGender identity disorder SpecialtyPsychiatry, psychology SymptomsDistress related to one's assigned gender or sex[1][2][3] ComplicationsEating disorders, suicide, depression, anxiety, social isolation[4] Differential diagnosisVariance in gender identity or expression that is not distressing[1][3] TreatmentTransitioning, psychotherapy[2][3] MedicationHormones (e.g., androgens, antiandrogens, estrogens) Part of a series on Transgender topics Gender identities * Androgyne * Cisgender * Gender bender * Non-binary (or genderqueer) * Third gender * Akava'ine * Bakla * Bissu * Calabai * Faʻafafine * Fakaleitī * Hijra * Kathoey * Khanith * Koekchuch * Māhū * Mak nyah * Mukhannathun * Muxe * Albanian sworn virgins * Takatāpui * Travesti * Two-spirit * Winkte * Trans man * Trans woman * Transsexual History * Outline * Timeline * United States * Compton's Cafeteria * Stonewall riots * Intersex Health care and medicine * Detransition * Gender dysphoria * In children * Health care * Hormone therapy * Pregnancy * Sex reassignment * Surgery * Therapy * To female * To male * Transsexual Rights issues * Discrimination * Anti-gender movement * Inequality * Non-binary * Transmisogyny * Transphobia * Rights * Movement * Non-binary, third gender * Organizations * Military service * Toilets * Bathroom bills * Unisex * Violence * Trans bashing * Unlawful killings * Trans panic * Yogyakarta Principles Society and culture * Characters * Fictional * Film and television * LGBT-related films * Events * Awareness Week * Day of Remembrance * Day of Visibility * March * LGBT * Flags * History * People * Non-binary * Publications * Religion * Sports * Transitioning * Youth * more Theory and concepts * Ambiphilia, androphilia, gynephilia * Childhood gender nonconformity * Cisgender / cissexual * Cross-dressing * Gender identity * Gender expression * Gender binary * Gender-sexuality questioning * Gender variance * Postgenderism * Transfeminism * Transmedicalism * Transmisogyny By country * Argentina * Australia * Rights * Re Kevin * Brazil * Canada * Bill C-16, 2016 * Rights * China * Germany * India * Rights of Transgender Persons Bill, 2014 * Tamil Nadu * Iran * Ireland * New Zealand * Singapore * South Africa * Turkey * United Kingdom * Rights * Gender Recognition Act 2004 * History * United States * Cafeteria riot * Disenfranchisement * History * Legal history * Rights * Title IX See also * Gender * Intersex * LGBT * Sex * sex assignment * Sex and gender distinction * Sexual orientation LGBT portal Transgender portal * v * t * e Gender dysphoria (GD) is the distress a person feels due to a mismatch between their gender identity and their sex assigned at birth. The diagnostic label gender identity disorder (GID) was used until 2013 with the release of the DSM-5. The condition was renamed to remove the stigma associated with the term disorder.[5] People with gender dysphoria commonly identify as transgender.[6] Gender nonconformity is not the same thing as gender dysphoria.[7] According to the American Psychiatric Association, the critical element of gender dysphoria is "clinically significant distress".[1] Evidence from studies of twins suggests that gender dysphoria likely has genetic factors in addition to environmental ones.[8][9] Treatment for gender dysphoria may involve supporting the person through changes in gender expression. Hormone therapy or surgery may be used to assist such changes.[2][3] Treatment may also include counseling or psychotherapy.[3] Some transgender people and researchers support declassification of the condition because they say the diagnosis pathologizes gender variance and reinforces the binary model of gender.[10][11][12] ## Contents * 1 Signs and symptoms * 2 Causes * 3 Diagnosis * 4 Management * 4.1 Children * 4.2 Psychological treatments * 4.3 Biological treatments * 5 Epidemiology * 6 History * 7 Society and culture * 7.1 Gender as a social construction * 7.2 Classification as a disorder * 8 See also * 9 References * 10 Further reading * 11 External links ## Signs and symptoms[edit] Distress arising from an incongruence between a person's felt gender and assigned sex/gender (usually at birth) is the cardinal symptom of gender dysphoria.[13][14] Gender dysphoria in those assigned male at birth tends to follow one of two broad trajectories: early-onset or late-onset. Early-onset gender dysphoria is behaviorally visible in childhood. Sometimes gender dysphoria will desist in this group and they will identify as gay or homosexual for a period of time, followed by recurrence of gender dysphoria. This group is usually sexually attracted to members of their natal sex in adulthood. Late-onset gender dysphoria does not include visible signs in early childhood, but some report having had wishes to be the opposite sex in childhood that they did not report to others. Trans women who experience late-onset gender dysphoria will usually be sexually attracted to women and may identify as lesbians. It is common for people assigned male at birth who have late-onset gender dysphoria to engage in cross-dressing with sexual excitement. In those assigned female at birth, early-onset gender dysphoria is the most common course. This group is usually sexually attracted to women. Trans men who experience late-onset gender dysphoria will usually be sexually attracted to men and may identify as gay.[15][16] Symptoms of GD in children include preferences for opposite sex-typical toys, games, or activities; great dislike of their own genitalia; and a strong preference for playmates of the opposite sex.[17] Some children may also experience social isolation from their peers, anxiety, loneliness, and depression.[4] In adolescents and adults, symptoms include the desire to be and to be treated as the other gender.[17] Adults with GD are at increased risk for stress, isolation, anxiety, depression, poor self-esteem, and suicide.[4] Studies indicate that transgender people have an extremely high rate of suicide attempts; one study of 6,450 transgender people in the United States found 41% had attempted suicide, compared to a national average of 1.6%. It was also found that suicide attempts were less common among transgender people who said their family ties had remained strong after they came out, but even transgender people at comparatively low risk were still much more likely to have attempted suicide than the general population.[18] Transgender people are also at heightened risk for eating disorders[19] and substance abuse.[20] ## Causes[edit] Main article: Causes of transsexuality A twin study (based on seven people in a 314 sample) suggested that GD may be associated with genetic factors.[21] ## Diagnosis[edit] The American Psychiatric Association permits a diagnosis of gender dysphoria in adolescents or adults if two or more of the following criteria are experienced for at least six months' duration:[17] * A strong desire to be of a gender other than one's assigned gender * A strong desire to be treated as a gender other than one's assigned gender * A significant incongruence between one's experienced or expressed gender and one's sexual characteristics * A strong desire for the sexual characteristics of a gender other than one's assigned gender * A strong desire to be rid of one's sexual characteristics due to incongruence with one's experienced or expressed gender * A strong conviction that one has the typical reactions and feelings of a gender other than one's assigned gender In addition, the condition must be associated with clinically significant distress or impairment.[17] The DSM-5 moved this diagnosis out of the sexual disorders category and into a category of its own.[17] The diagnosis was renamed from gender identity disorder to gender dysphoria, after criticisms that the former term was stigmatizing.[22] Subtyping by sexual orientation was deleted. The diagnosis for children was separated from that for adults, as "gender dysphoria in children". The creation of a specific diagnosis for children reflects the lesser ability of children to have insight into what they are experiencing, or ability to express it in the event that they have insight.[23] Other specified gender dysphoria or unspecified gender dysphoria can be diagnosed if a person does not meet the criteria for gender dysphoria but still has clinically significant distress or impairment.[17] Intersex people are now included in the diagnosis of GD.[24] The International Classification of Diseases (ICD-10) lists several disorders related to gender identity:[25][26] * Transsexualism (F64.0): Desire to live and be accepted as a member of the opposite sex, usually accompanied by a desire for surgery and hormonal treatment * Gender identity disorder of childhood (F64.2): Persistent and intense distress about one's assigned gender, manifested prior to puberty * Other gender identity disorders (F64.8) * Gender identity disorder, unspecified (F64.9) * Sexual maturation disorder (F66.0): Uncertainty about one's gender identity or sexual orientation, causing anxiety or distress The ICD-11, which will come into effect on 1 January 2022, significantly revises classification of gender identity-related conditions.[27] Under "conditions related to sexual health", the ICD-11 lists "gender incongruence", which is coded into three conditions:[28] * Gender incongruence of adolescence or adulthood (HA60): replaces F64.0 * Gender incongruence of childhood (HA61): replaces F64.2 * Gender incongruence, unspecified (HA6Z): replaces F64.9 In addition, sexual maturation disorder has been removed, along with dual-role transvestism.[29] ICD-11 defines gender incongruence as "a marked and persistent incongruence between an individual’s experienced gender and the assigned sex", with presentations similar to the DSM-5 definition, but does not require significant distress or impairment. ## Management[edit] Treatment for a person diagnosed with GD may include psychotherapy or to support the individual's preferred gender through hormone therapy, gender expression and role, or surgery. This may include psychological counseling, resulting in lifestyle changes, or physical changes, resulting from medical interventions such as hormonal treatment, genital surgery, electrolysis or laser hair removal, chest/breast surgery, or other reconstructive surgeries.[30] The goal of treatment may simply be to reduce problems resulting from the person's transgender status, for example, counseling the patient in order to reduce guilt associated with cross-dressing, or counseling a spouse to help them adjust to the patient's situation.[31] Guidelines have been established to aid clinicians. The World Professional Association for Transgender Health (WPATH) Standards of Care are used by some clinicians as treatment guidelines. Others use guidelines outlined in Gianna Israel and Donald Tarver's Transgender Care.[citation needed] Guidelines for treatment generally follow a "harm reduction" model.[32][33][34] ### Children[edit] Main article: Gender dysphoria in children The question of whether to counsel young children to be happy with their assigned sex, or to allow them to continue to exhibit behaviors that do not match their assigned sex—or to explore a gender transition—is controversial. Follow-up studies of children with gender dysphoria consistently show that the majority of them will not remain gender dysphoric after puberty and will instead identify as gay or lesbian.[35][36][37] Factors that are associated with gender dysphoria persisting through puberty include intensity of gender dysphoria, amount of cross-gendered behavior, and verbal identification with the desired/experienced gender (i.e. stating that they are a different gender rather than wish to be a different gender).[38] Zucker reports that 22 out of 25 young girls diagnosed with gender dysphoria later did not exhibit any dysphoria, and opines that "the so-called natural history of GID in children is complicated, and to make dogmatic assertions is overly simplistic."[39] Professionals who treat gender dysphoria in children sometimes prescribe drugs, known as puberty blockers, to delay the onset of puberty until a child is believed to be old enough to make an informed decision on whether hormonal or surgical gender reassignment is in their best interest.[40][41] The use of puberty blockers for transgender children is controversial, however. In the UK, a high court ruling in the case of Bell v Tavistock found that it was "doubtful" that a child under 16 could understand and weigh the consequences of such a decision, and thus was unlikely to be able to give informed consent.[42][43] Following the ruling, NHS England announced that children under 16 would no longer be given puberty blockers without court authorization.[44] In the United States, several states have introduced or are considering legislation that would prohibit the use of puberty blockers in the treatment of transgender children.[45] ### Psychological treatments[edit] Main article: Psychotherapy Until the 1970s, psychotherapy was the primary treatment for gender dysphoria and generally was directed to helping the person adjust to their assigned sex. Psychotherapy is any therapeutic interaction that aims to treat a psychological problem. Though some clinicians still use only psychotherapy to treat gender dysphoria, it may now be used in addition to biological interventions.[46] Psychotherapeutic treatment of GD involves helping the patient to adapt.[clarification needed] Attempts to alleviate GD by changing the patient's gender identity to reflect assigned sex have been ineffective.[47]:1741 ### Biological treatments[edit] Main article: Sex reassignment therapy Biological treatments physically alter primary and secondary sex characteristics to reduce the discrepancy between an individual's physical body and gender identity.[48] Biological treatments for GD without any form of psychotherapy is quite uncommon. Researchers have found that if individuals bypass psychotherapy in their GD treatment, they often feel lost and confused when their biological treatments are complete.[49] Psychotherapy, hormone replacement therapy, and sex reassignment surgery together can be effective treating GD when the WPATH standards of care are followed.[47]:1570 The overall level of patient satisfaction with both psychological and biological treatments is very high.[46] ## Epidemiology[edit] See also: Transgender § Population figures, and Transsexual § Prevalence The DSM-5 estimates that about 0.005% to 0.014% of people assigned male at birth and 0.002% to 0.003% of people assigned female at birth are diagnosable with gender dysphoria.[50] According to Black's Medical Dictionary, gender dysphoria “occurs in one in 30,000 male births and one in 100,000 female births.”[51] Studies in European countries in the early 2000s found that about 1 in 12,000 natal male adults and 1 in 30,000 natal female adults seek out sex reassignment surgery.[52] Studies of hormonal treatment or legal name change find higher prevalence than sex reassignment, with, for example a 2010 Swedish study finding that 1 in 7750 adult natal males and 1 in 13120 adult natal females requested a legal name change to a name of the opposite gender.[52] Studies that measure transgender status by self-identification find even higher rates of gender identity different from sex assigned at birth (although some of those who identify as transgender or gender nonconforming may not experience clinically significant distress and so do not have gender dysphoria). A study in New Zealand found that 1 in 3630 natal males and 1 in 22714 natal females have changed their legal gender markers.[52] A survey of Massachusetts adults found that 0.5% identify as transgender.[52][53] A national survey in New Zealand of 8,500 randomly selected secondary school students from 91 randomly selected high schools found 1.2% of students responded "yes" to the question "Do you think you are transgender?".[54] Research indicates people who transition in adulthood are up to three times more likely to be male assigned at birth, but that among people transitioning in childhood the sex ratio is close to 1:1.[55] The prevalence of gender dysphoria in children is unknown due to the absence of formal prevalence studies.[38] ## History[edit] Neither the DSM-I (1952) nor the DSM-II (1968) contained a diagnosis analogous to gender dysphoria. Gender identity disorder first appeared as a diagnosis in the DSM-III (1980), where it appeared under "psychosexual disorders" but was used only for the childhood diagnosis. Adolescents and adults received a diagnosis of transsexualism (homosexual, heterosexual, or asexual type). The DSM-III-R (1987) added "Gender Identity Disorder of Adolescence and Adulthood, Non-Transsexual Type" (GIDAANT).[56][57][58] ## Society and culture[edit] A sign at a trans rights rally: "Gender is like that old jumper from my cousin: It was given to me and it doesn't fit." Researchers disagree about the nature of distress and impairment in people with GD. Some authors have suggested that people with GD suffer because they are stigmatized and victimized;[59] and that, if society had less strict gender divisions, transsexual people would suffer less.[60] Some controversy surrounds the creation of the GD diagnosis, with Davy et al. stating that although the creators of the diagnosis state that it has rigorous scientific support, "it is impossible to scrutinize such claims, since the discussions, methodological processes, and promised field trials of the diagnosis have not been published."[24] ### Gender as a social construction[edit] Main article: Social construction of gender Social gender characteristics are created and supported by the expectations of a culture and are therefore only partially related to biological sex. For example, the association of particular colors with "girl" or "boy" babies begins extremely early in Western European-derived cultures. Other expectations relate to approved and allowable behaviors and emotional expression.[61] Some cultures have three defined genders: man, woman, and effeminate man. For example, in Samoa, the fa'afafine, a group of feminine males, are entirely socially accepted. The fa'afafine do not have any of the stigma or distress typically associated in most cultures with deviating from a male/female gender role. This suggests the distress so frequently associated with GID in a Western context is not caused by the disorder itself, but by difficulties encountered from social disapproval by one's culture.[62] However, research has found that the anxiety associated with gender dysphoria persists in cultures, Eastern or otherwise, which are more accepting of gender nonconformity.[63] In Australia, a 2014 High Court of Australia judgment unanimously ruled in favor of a plaintiff named Norrie, who asked to be classified by a third gender category, 'non-specific', after a long court battle with the NSW Registrar of Births, Deaths and Marriages.[64] However, the Court did not accept that gender was a social construction: it found that sex reassignment "surgery did not resolve her sexual ambiguity".[64]:para 11 ### Classification as a disorder[edit] The psychiatric diagnoses of gender identity disorder (now gender dysphoria) was introduced in DSM-III in 1980. Arlene Istar Lev and Deborah Rudacille have characterized the addition as a political maneuver to re-stigmatize homosexuality.[65][66] (Homosexuality was removed from DSM-II in 1974.) By contrast, Kenneth Zucker and Robert Spitzer argue that gender identity disorder was included in DSM-III because it "met the generally accepted criteria used by the framers of DSM-III for inclusion."[67] Some researchers, including Spitzer and Paul J. Fink, contend that the behaviors and experiences seen in transsexualism are abnormal and constitute a dysfunction.[68] The American Psychiatric Association stated that gender nonconformity is not the same thing as gender dysphoria,[7] and that "gender nonconformity is not in itself a mental disorder. The critical element of gender dysphoria is the presence of clinically significant distress associated with the condition."[1] Individuals with gender dysphoria may or may not regard their own cross-gender feelings and behaviors as a disorder. Advantages and disadvantages exist to classifying gender dysphoria as a disorder.[3] Because gender dysphoria had been classified as a disorder in medical texts (such as the previous DSM manual, the DSM-IV-TR, under the name "gender identity disorder"), many insurance companies are willing to cover some of the expenses of sex reassignment therapy. Without the classification of gender dysphoria as a medical disorder, sex reassignment therapy may be viewed as a cosmetic treatment, rather than medically necessary treatment, and may not be covered.[69] In the United States, transgender people are less likely than others to have health insurance, and often face hostility and insensitivity from healthcare providers.[70] The DSM-IV-TR diagnostic component of distress is not inherent in the cross-gender identity; rather, it is related to social rejection and discrimination suffered by the individual.[62][citation needed] Psychology professor Darryl Hill insists that gender dysphoria is not a mental disorder, but rather that the diagnostic criteria reflect psychological distress in children that occurs when parents and others have trouble relating to their child's gender variance.[68] Transgender people have often been harassed, socially excluded, and subjected to discrimination, abuse and violence, including murder.[4][60] In December 2002, the British Lord Chancellor's office published a Government Policy Concerning Transsexual People document that categorically states, "What transsexualism is not ... It is not a mental illness."[71] In May 2009, the government of France declared that a transsexual gender identity will no longer be classified as a psychiatric condition,[72] but according to French trans rights organizations, beyond the impact of the announcement itself, nothing changed.[73] Denmark made a similar statement in 2016.[74] In the ICD-11, GID is reclassified as "gender incongruence", a condition related to sexual health.[28] The working group responsible for this recategorization recommended keeping such a diagnosis in ICD-11 to preserve access to health services.[29] ## See also[edit] * List of transgender-related topics * Transmedicalism ## References[edit] 1. ^ a b c d "Gender Dysphoria" (PDF). American Psychiatric Publishing. Retrieved December 24, 2016. 2. ^ a b c Maddux JE, Winstead BA (2015). Psychopathology: Foundations for a Contemporary Understanding. Routledge. pp. 464–465. ISBN 978-1317697992. 3. ^ a b c d e f Coleman E (2011). "Standards of Care for the Health of Transsexual, Transgender, and Gender-Nonconforming People, Version 7" (PDF). International Journal of Transgenderism. Routledge Taylor & Francis Group. 13 (4): 165–232. doi:10.1080/15532739.2011.700873. S2CID 39664779. Archived from the original (PDF) on August 2, 2014. Retrieved August 30, 2014. 4. ^ a b c d Davidson, Michelle R. (2012). A Nurse's Guide to Women's Mental Health. Springer Publishing Company. p. 114. ISBN 978-0-8261-7113-9. 5. ^ American Psychiatric Association, DSM-5 Fact Sheets, Updated Disorders: Gender Dysphoria (Washington, D.C.: American Psychiatric Association, 2013): 2 ("DSM-5 aims to avoid stigma and ensure clinical care for individuals who see and feel themselves to be a different gender than their assigned gender. It replaces the diagnostic name 'gender identity disorder' with 'gender dysphoria', as well as makes other important clarifications in the criteria."). 6. ^ Russo J, Coker JK, King JH (2017). DSM-5® and Family Systems. Springer Publishing Company. p. 352. ISBN 978-0826183996. "People meeting criteria for Gender Dysphoria most often identify themselves as trans or transgender. Trans or transgender can be used as umbrella terms to include the broad spectrum of persons whose gender identity differs from the assigned gender (APA, 2013)." 7. ^ a b Ranna Parekh. "What Is Gender Dysphoria?". American Psychiatric Publishing. Retrieved November 20, 2018. 8. ^ Heylens G, De Cuypere G, Zucker KJ, Schelfaut C, Elaut E, Vanden Bossche H, De Baere E, T'Sjoen G (March 2012). "Gender identity disorder in twins: a review of the case report literature". The Journal of Sexual Medicine. 9 (3): 751–7. doi:10.1111/j.1743-6109.2011.02567.x. PMID 22146048. "Of 23 monozygotic female and male twins, nine (39.1%) were concordant for GID; in contrast, none of the 21 same‐sex dizygotic female and male twins were concordant for GID, a statistically significant difference (P = 0.005)... These findings suggest a role for genetic factors in the development of GID." 9. ^ Diamond, Milton (2013). "Transsexuality Among Twins: Identity Concordance, Transition, Rearing, and Orientation". International Journal of Transgenderism. 14 (1): 24–38. doi:10.1080/15532739.2013.750222. S2CID 144330783. "Combining data from the present survey with those from past-published reports, 20% of all male and female monozygotic twin pairs were found concordant for transsexual identity... The responses of our twins relative to their rearing, along with our findings regarding some of their experiences during childhood and adolescence show their identity was much more influenced by their genetics than their rearing." 10. ^ Bryant, Karl (2018). "Gender Dysphoria". Encyclopædia Britannica Online. Retrieved August 16, 2018. 11. ^ Fraser, L; Karasic, D; Meyer, W; Wylie, K (2010). "Recommendations for Revision of the DSM Diagnosis of Gender Identity Disorder in Adults". International Journal of Transgenderism. 12 (2): 80–85. doi:10.1080/15532739.2010.509202. S2CID 144409977. 12. ^ Newman, L (July 1, 2002). "Sex, Gender and Culture: Issues in the Definition, Assessment and Treatment of Gender Identity Disorder". Clinical Child Psychology and Psychiatry. 7 (3): 352–359. doi:10.1177/1359104502007003004. S2CID 145666729. 13. ^ Zucker, Kenneth J.; Lawrence, Anne A.; Kreukels, Baudewijntje P.C. (2016). "Gender Dysphoria in Adults". Annual Review of Clinical Psychology. 12: 217–247. doi:10.1146/annurev-clinpsy-021815-093034. PMID 26788901. "[For DSM-5] a reconceptualization was articulated in which 'identity' per se was not considered a sign of a mental disorder. Rather, it was the incongruence between one’s felt gender and assigned sex/gender (usually at birth) leading to distress and/or impairment that was the core feature of the diagnosis." 14. ^ Lev, Arlene Istar (2013). "Gender Dysphoria: Two Steps Forward, One Step Back". Clinical Social Work Journal. 41 (3): 288–296. doi:10.1007/s10615-013-0447-0. S2CID 144556484. "[Despite some misgivings], I think that the change in nomenclature from the DSM-IV to the DSM-5 is a step forward, that is, removing the concept of gender as the site of the disorder and placing the focus on issues of distress and dysphoria." 15. ^ Diagnostic and Statistical Manual of Mental Disorders (Fifth ed.). Arlington, VA: American Psychiatric Publishing. 2013. pp. 451–460. ISBN 978-0-89042-554-1. 16. ^ Guillamon A, Junque C, Gómez-Gil E (October 2016). "A Review of the Status of Brain Structure Research in Transsexualism". Archives of Sexual Behavior. 45 (7): 1615–48. doi:10.1007/s10508-016-0768-5. PMC 4987404. PMID 27255307. 17. ^ a b c d e f American Psychiatry Association (2013). Diagnostic and Statistical Manual of Mental Disorders (DSM-5) (5th ed.). Washington, DC and London: American Psychiatric Publishing. pp. 451–460. ISBN 978-0-89042-555-8. 18. ^ Grant; Jaime, M.; Mottet, Lisa; Tanis, Justin; Harrison, Jack; Herman, Jody; Keisling, Mara (2011). Injustice at Every Turn: A Report of the National Transgender Discrimination Survey (PDF). Washington: National Center for Transgender Equality and National Gay and Lesbian Task Force. Archived from the original (PDF) on November 4, 2015. Retrieved May 10, 2015. 19. ^ Diemer EW, Grant JD, Munn-Chernoff MA, Patterson DA, Duncan AE (August 2015). "Gender Identity, Sexual Orientation, and Eating-Related Pathology in a National Sample of College Students". The Journal of Adolescent Health. 57 (2): 144–9. doi:10.1016/j.jadohealth.2015.03.003. PMC 4545276. PMID 25937471. 20. ^ Harmon, A., & Oberleitner, M. G. (2016). Gender dysphoria. In Gale (Ed.), Gale encyclopedia of children's health: Infancy through adolescence (3rd ed.). Farmington, MI: Gale. 21. ^ Coolidge FL, Thede LL, Young SE (July 2002). "The heritability of gender identity disorder in a child and adolescent twin sample". Behavior Genetics. 32 (4): 251–7. doi:10.1023/A:1019724712983. PMID 12211624. S2CID 25159803. 22. ^ "Gender Dysphoria in Children". American Psychiatric Association. May 4, 2011. Retrieved July 3, 2011. 23. ^ "P 00 Gender Dysphoria in Children". American Psychiatric Association. Retrieved April 2, 2012. 24. ^ a b Davy, Zowie; Toze, Michael (2018). "What Is Gender Dysphoria? A Critical Systematic Narrative Review". Transgender Health. Mary Ann Liebert, Inc. Publishers. 3 (1): 159–169. doi:10.1089/trgh.2018.0014. PMC 6225591. PMID 30426079. 25. ^ "International Classification of Diseases (ICD) F64 Gender identity disorders". World Health Organization. Retrieved August 9, 2018. 26. ^ Potts, S; Bhugra, D (1995). "Classification of sexual disorders". International Review of Psychiatry. 7 (2): 167–174. doi:10.3109/09540269509028323. 27. ^ "International Classification of Diseases". World Health Organization. Retrieved August 11, 2018. 28. ^ a b "Gender incongruence (ICD-11)". icd.who.int. WHO. Retrieved August 28, 2018. 29. ^ a b Reed GM, Drescher J, Krueger RB, Atalla E, Cochran SD, First MB, Cohen-Kettenis PT, Arango-de Montis I, Parish SJ, Cottler S, Briken P, Saxena S (October 2016). "Disorders related to sexuality and gender identity in the ICD-11: revising the ICD-10 classification based on current scientific evidence, best clinical practices, and human rights considerations". World Psychiatry. 15 (3): 205–221. doi:10.1002/wps.20354. PMC 5032510. PMID 27717275. 30. ^ "NHS - Treatment - Gender dysphoria". NHS. 2016. Retrieved January 10, 2019. 31. ^ Leiblum, Sandra (2006). Principles and Practice of Sex Therapy, Fourth Edition. The Guilford Press. pp. 488–9. ISBN 978-1-59385-349-5. 32. ^ Committee On Adolescence (July 2013). "Office-based care for lesbian, gay, bisexual, transgender, and questioning youth". Pediatrics. 132 (1): 198–203. doi:10.1542/peds.2013-1282. PMID 23796746. "However, adolescents with multiple or anonymous partners, having unprotected intercourse, or having substance abuse issues should be tested at shorter intervals." 33. ^ "www.glma.org Compendium of Health Profession Association LGBT Policy & Position Statements" (PDF). GLMA. 2013. Retrieved August 27, 2013. 34. ^ "APA Policy Statements on Lesbian, Gay, Bisexual, & Transgender Concerns" (PDF). American Psychological Association. 2011. Retrieved August 27, 2013. "BE IT FURTHER RESOLVED that APA recognizes the efficacy, benefit, and necessity of gender transition treatments for appropriately evaluated individuals and calls upon public and private insurers to cover these medically necessary treatments;" 35. ^ Wallien, M. S. C., & Cohen-Kettenis, P. T. (2008). Psychosexual outcome of gender-dysphoric children. Journal of the American Academy of Child and Adolescent Psychiatry, 47, 1413–1423. 36. ^ Drummond, K. D., Bradley, S. J., Badali-Peterson, M., & Zucker, K. J. (2008). A follow-up study of girls with gender identity disorder. Developmental Psychology, 44, 34–45. 37. ^ Steensma, T. D., McGuire, J. K., Kreukels, B. P. C., Beekman, A. J., & Cohen-Kettenis, P. T. (2013). Factors associated with desistence and persistence of childhood gender dysphoria: A quantitative follow-up study. Journal of the American Academy of Child and Adolescent Psychiatry, 52, 582–590. 38. ^ a b Ristori, Jiska; Steensma, Thomas D. (2 January 2016). "Gender dysphoria in childhood". International Review of Psychiatry. 28 (1): 13–20. doi:10.3109/09540261.2015.1115754. PMID 26754056. S2CID 5461482. 39. ^ Spiegel, Alix (May 8, 2008). "Q&A: Therapists on Gender Identity Issues in Kids". NPR. Retrieved September 16, 2008. 40. ^ The Transgendered Child: A Handbook for Families and Professionals (Brill and Pepper, 2008)[full citation needed][page needed] 41. ^ Alleyne, Richard (15 April 2011). "Puberty blocker for children considering sex change". The Telegraph. Retrieved 1 December 2020. 42. ^ "Quincy Bell and A v. Tavistock and Portman NHS Foundation Trust" (PDF). Retrieved 4 December 2020. 43. ^ "Puberty blockers: Under-16s 'unlikely' to be able to give informed consent". BBC News. 1 December 2020. Retrieved 4 December 2020. 44. ^ Woode, David (1 December 2020). "Children under 16 will no longer be given puberty blockers without court authorisation". inews.co.uk. Retrieved 4 December 2020. 45. ^ Safer, Joshua D. (17 February 2020). "Controversial pubertal blocker legislation may bring unintended consequences for children". Healio. Retrieved 15 December 2020. 46. ^ a b Gijs, L; Brawaeys, A (2007). "Surgical Treatment of Gender Dysphoria in Adults and Adolescents: Recent Developments, Effectiveness, and Challenges". Annual Review of Sex Research. 18 (178–224). 47. ^ a b George R. Brown, MD (July 20, 2011). "Chapter 165 Sexuality and Sexual Disorders". In Robert S. Porter, MD; et al. (eds.). The Merck Manual of Diagnosis and Therapy (19th ed.). Whitehouse Station, NJ, USA: Merck & Co., Inc. pp. 1740–1747. ISBN 978-0-911910-19-3. 48. ^ Bockting, W; Knudson, G; Goldberg, J (January 2006). "Counselling and Mental Health Care of Transgender Adults and Loved Ones". Cite journal requires `\|journal=` (help) 49. ^ Hakeem, Az (2008). "Changing Sex or Changing Minds: Specialist Psychotherapy and Transsexuality". Group Analysis. 41 (2): 182–196. doi:10.1177/0533316408089883. S2CID 143359476. 50. ^ Diagnostic and Statistical Manual of Mental Disorders 5. American Psychiatric Association. 2013. p. 454. ISBN 978-0-89042-555-8. 51. ^ Gender Identity Disorders. in Harvey Marcovitch, ed. Black's Medical Dictionary, 43rd edition, New York: Bloomsbury, 2018 52. ^ a b c d Zucker, Kenneth J. (2017). "Epidemiology of gender dysphoria and transgender identity". Sexual Health. 14 (5): 404. doi:10.1071/SH17067. ISSN 1448-5028. 53. ^ Conron, KJ; Scott, G; Stowell, GS; Landers, S (January 2012), "Transgender Health in Massachusetts: Results from a Household Probability Sample of Adults", American Journal of Public Health, American Public Health Association, 102 (1): 118–222, doi:10.2105/AJPH.2011.300315, ISSN 1541-0048, OCLC 01642844, PMC 3490554, PMID 22095354, "Between 2007 and 2009, survey participants aged 18 to 64 years in the Massachusetts Behavioral Risk Factor Surveillance System (MA-BRFSS; N = 28 662) were asked: "Some people describe themselves as transgender when they experience a different gender identity from their sex at birth. For example, a person born into a male body, but who feels female or lives as a woman. Do you consider yourself to be transgender?" […] We restricted the analytic sample to 28176 participants who answered yes or no to the transgender question (excluding n=364, 1.0% weighted who declined to respond. […] Transgender respondents (n=131; 0.5%; 95% confidence interval [CI]=0.3%, 0.6%) were somewhat younger and more likely to be Hispanic than were nontransgender respondents." 54. ^ Clark TC, Lucassen MF, Bullen P, Denny SJ, Fleming TM, Robinson EM, Rossen FV (July 2014). "The health and well-being of transgender high school students: results from the New Zealand adolescent health survey (Youth'12)". The Journal of Adolescent Health. 55 (1): 93–9. doi:10.1016/j.jadohealth.2013.11.008. PMID 24438852. "Whether a student was transgender was measured by the question, "Do you think you are transgender? This is a girl who feels like she should have been a boy, or a boy who feels like he should have been a girl (e.g., Trans, Queen, Fa’faffine, Whakawahine, Tangata ira Tane, Genderqueer)?" […] Over 8,000 students (n = 8,166) answered the question about whether they were transgender. Approximately 95% of students did not report being transgender (n=7,731; 94.7%), 96 students reported being transgender (1.2%), 202 reported not being sure (2.5%), and 137 did not understand the question (1.7%)." 55. ^ Landén M, Wålinder J, Lundström B (April 1996). "Prevalence, incidence and sex ratio of transsexualism". Acta Psychiatrica Scandinavica. 93 (4): 221–3. doi:10.1111/j.1600-0447.1996.tb10638.x. PMID 8712018. S2CID 26661088. "On average, the male [to female]:female [to male] ratio in prevalence studies is estimated to be 3:1. However […] the incidence studies have shown a considerably lower male [to female] predominance. In Sweden and England and Wales, a sex ratio of 1:1 has been reported. In the most recent incidence data from Sweden, there is a slight male [to female] predominance among the group consisting of all applicants for sex reassignment, while in the group of primary [early onset] transsexuals there is no difference in incidence between men and women." 56. ^ Koh J (2012). "[The history of the concept of gender identity disorder]". Seishin Shinkeigaku Zasshi = Psychiatria et Neurologia Japonica. 114 (6): 673–80. PMID 22844818. 57. ^ Pauly, Ira B. (1993). "Terminology and Classification of Gender Identity Disorders". Journal of Psychology & Human Sexuality. 5 (4): 1–14. doi:10.1300/J056v05n04_01. 58. ^ Drescher, Jack, Transsexualism, Gender Identity Disorder and the DSM, Journal of Gay & Lesbian Mental Health 14, no. 2 (2010): 112. 59. ^ Bryant, Karl Edward (2007). The Politics of Pathology and the Making of Gender Identity Disorder. Ann Arbor, Michigan. p. 222. ISBN 978-0-549-26816-1. 60. ^ a b Giordano, Simona (2012). Children with Gender Identity Disorder: A Clinical, Ethical, and Legal Analysis. New Jersey: Routledge. p. 147. ISBN 978-0-415-50271-9. 61. ^ Marecek, J.; Crawford, M.; Popp, D. (2004). "On the Construction of Gender, Sex, and Sexualities". In A.H. Eagly; A.E. Beall; R.J. Sternberg (eds.). The Psychology of Gender. New York: Guilford Press. pp. 192–216. 62. ^ a b Vasey PL, Bartlett NH (2007). "What can the Samoan "Fa'afafine" teach us about the Western concept of gender identity disorder in childhood?". Perspectives in Biology and Medicine. 50 (4): 481–90. doi:10.1353/pbm.2007.0056. PMID 17951883. S2CID 37437172. 63. ^ Diagnostic and Statistical Manual of Mental Disorders 5. American Psychiatric Association. 2013. p. 459. ISBN 978-0-89042-555-8. 64. ^ a b NSW Registrar of Births, Deaths and Marriages v Norrie [2014] HCA 11 (2 April 2014), High Court (Australia). 65. ^ Lev, Arlene Istar (2004). Transgender Emergence: Therapeutic Guidelines for Working with Gender-Variant People and Their Families. Haworth Press. p. 172. ISBN 978-0-7890-2117-5. 66. ^ Rudacille, Deborah (February 2005). The Riddle of Gender: Science, Activism, and Transgender Rights. Pantheon. ISBN 978-0-375-42162-4.[page needed] 67. ^ Zucker, KJ; Spitzer, RL (Jan–Feb 2005), "Was the gender identity disorder of childhood diagnosis introduced into DSM-III as a backdoor maneuver to replace homosexuality? A historical note.", Journal of Sex and Marital Therapy, 31 (1): 31–42, doi:10.1080/00926230590475251, PMID 15841704, S2CID 22589255 68. ^ a b "Controversy Continues to Grow Over DSM's GID Diagnosis". Psychiatric News. 69. ^ Ford, Zack. "APA Revises Manual: Being Transgender is No Longer a Mental Disorder". Archived from the original on February 2, 2013. Retrieved April 7, 2013. 70. ^ Mallon, Gerald P. (2009). Social Work Practice with Transgender and Gender Variant Youth. New Jersey: Routledge. ISBN 978-0-415-99482-8. 71. ^ "Government Policy concerning Transsexual People". People's rights/Transsexual people. U.K. Department for Constitutional Affairs. 2003. Archived from the original on May 11, 2008. 72. ^ "La transsexualité ne sera plus classée comme affectation psychiatrique". Le Monde. May 16, 2009. 73. ^ "La France est très en retard dans la prise en charge des transsexuels". Libération (in French). May 17, 2011. "En réalité, ce décret n'a été rien d'autre qu'un coup médiatique, un très bel effet d'annonce. Sur le terrain, rien n'a changé." 74. ^ "Denmark will become first country to no longer define being transgender as a mental illness". The Independent. May 14, 2016. ## Further reading[edit] * Conway, Lynn (June 26, 2014). "Successful TransMen: Links and Photos". ai.eecs.umich.edu. Retrieved December 2, 2014. * Conway, Lynn (February 5, 2011). "Transsexual Women's Successes: Links and Photos". ai.eecs.umich.edu. Retrieved December 2, 2014. * Jacques, Juliet. "A Transgender Journey". The Guardian. Retrieved December 2, 2014. * Sharp, Victoria Madeleine; Lewis, Clive Buckland; Lieven, Natalie Marie Daniella. "Bell v Tavistock" (PDF). In the High Court of Justice Administrative Court Divisional Court ([2020] EWHC 3274 (Admin)): CO/60/2020. * World Professional Association for Transgender Health (2012). Standards of Care for Gender Identity Disorders (PDF). Harry Benjamin International Gender Dysphoria Association. Archived from the original (PDF) on September 24, 2014. Includes a description of ICD-10 criteria. ## External links[edit] Classification D * ICD-10: F64.9 , F64.8 * ICD-9-CM: 302.85 * MeSH: D000068116 External resources * MedlinePlus: 001527 * Health Law Standards of Care for Transsexualism – An alternative to the Benjamin Standards of Care proposed by the International Conference on Transgender Law and Employment Policy. * The Lord Chancellor's Department Government Policy concerning Transsexual People * v * t * e Transgender topics Gender identities * Androgyne * Gender bender * Non-binary (or genderqueer) * Third gender * Akava'ine * Bakla * Bissu * Calabai * Fa'afafine * Fakaleitī * Femminiello * Hijra * Kathoey * Khanith * Koekchuch * Māhū * Maknyah * Mukhannathun * Muxe * Sworn virgin * Takatāpui * Travesti * Two-spirit * Winkte * Trans man * Trans woman * Transsexual Health care and medicine * Gender dysphoria * In children * Health care * Pregnancy * Sex reassignment * therapy * surgery * to female * to male Rights issues * 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genders * Bissu * Calabai * Calalai * Chibados * Enaree * Eunuch * Fa'afafine * Fakaleitī * Femminiello * Galli * Hijra * Kathoey * Khanith * Köçek * Koekchuch * Lhamana * Māhū * Mak nyah * Mukhannathun * Muxe * Nádleehi * Nullo * Rae-rae * Sipiniq * Sworn virgin * Takatāpui * Travesti * Tumtum * Two-spirit * Winkte Sexual orientation identities Sexual orientations * Asexual * Bisexual * Heterosexual * Homosexual Alternative labels * Banjee * Bi-curious * Ex-gay * Ex-ex-gay * Gay * Gray asexual * Heteroflexible * Lesbian * Non-heterosexual * Pansexual * Polysexual * Queer * Questioning * Same gender loving Social aspects * Sociosexuality * Antisexuality * Monogamy * Non-monogamy * Polyamorous * Asociality * Homosociality * Heterosociality Other * Analloeroticism * Androphilia and gynephilia * Attraction to transgender people * Kinsey scale * Monosexuality * Romantic orientation See also * Gender roles * Intersex * Sex and gender distinction * Sexuality and gender identity-based cultures * Social construction of gender Authority control * GND: 7586903-2 * LCCN: sh85053731 * NDL: 00844164 [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-aminobutyric 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	Gender dysphoria	c0236802	26,490	wikipedia	https://en.wikipedia.org/wiki/Gender_dysphoria	2021-01-18T18:33:19	{"mesh": ["D000068116"], "umls": ["C0236802"], "icd-10": ["F64.9", "F64.8"], "wikidata": ["Q1049021"]}
## Description Pili annulati, or 'ringed hair,' is a disorder in which scalp hairs show alternating light and dark bands. It is often an incidental finding, and the hair usually does not show increased fragility (Green et al., 2004). See also pseudopili annulati (613241), a distinct entity. Clinical Features Cady and Trotter (1920) reported 3 unrelated families with ringed hair. The condition was restricted to hairs on the scalp. Based on refractive patterns under transmitted and reflective light, Cady and Trotter (1920) concluded that the light areas were caused by the presence of gas in the interstices of the medulla and cortex of the hair shaft, and not by lack of pigmentation. Ashley and Jacques (1950) reported a 4-generation pedigree with ringed hair inherited in an autosomal dominant pattern. Grossly, affected scalp hairs showed alternating light and dark bands with sharp demarcation. When observed en masse, hair appeared lusterless, graying, sandy-colored, or speckled. In some cases, affected hairs were shorter than unaffected hairs due to breakage at the light, gas-filled segment. Ashley and Jacques (1950) concluded that pili annulati was distinct from beaded hair, or monilethrix (158000). Pili annulati hairs are cylindrical throughout the shaft with no change in hair circumference, whereas those of monilethrix have constrictions in the hair at regular intervals. In addition, individuals with pili annulati usually have normal growth of hair, whereas those with monilethrix have alopecia as well as associated follicular keratosis. Inheritance In 3 families with ringed hair reported by Cady and Trotter (1920), the transmission pattern was consistent with autosomal dominant inheritance. Snell and Foley (1932) described 9 affected persons in 4 generations with an instance of male-to-male transmission, consistent with autosomal dominant inheritance. Mapping By linkage analysis of 2 unrelated families with autosomal dominant inheritance of pili annulati, Green et al. (2004) found significant linkage to a 9.2-cM region on chromosome 12q between D12S367 and D12S1723 (maximum combined lod score of 4.78 at D12S1723). Molecular analysis excluded pathogenic mutations in the coding and 5-prime regions of the FZD10 gene (606147). Pathogenesis Price et al. (1968) performed detailed studies using light and electron microscopy on pili annulati from a 17-year-old girl with no family history of the condition and no clinical problems. The light cavities were situated both centrally and peripherally in the cortex of the hair shaft. The authors postulated that pili annulati results from an inherent error of hair growth, resulting in air-filled cavities in the mature hair shaft. History Cady and Trotter (1920) provided a review of cases of ringed hair reported in the 1800s and early 1900s. Affected individuals were described as having hair with alternating light and brown segments. Some of the patients had associated alopecia. The lighter segments were often attributed to air pockets or spaces within the hair shaft. INHERITANCE \- Autosomal dominant SKIN, NAILS, & HAIR Hair \- Scalp hair appears banded, with alternating light and dark segments \- Bands are due to air spaces in cortex of hair \- Hair shows normal, constant diameter along shaft \- Hair is not twisted \- Reflected light shows bright and dark bands \- Transmitted light shows opposite light and dark bands those seen with reflected light MISCELLANEOUS \- Onset in infancy or early childhood \- Usually no increased fragility of hair \- Distinct from pseudopili annulati ( 613241 ) ▲ 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-aminobutyric 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	RINGED HAIR	c0263489	26,491	omim	https://www.omim.org/entry/180600	2019-09-22T16:35:07	{"mesh": ["C537187"], "omim": ["180600"], "icd-10": ["Q84.1"], "orphanet": ["169"], "synonyms": ["Alternative titles", "PILI ANNULATI"]}
Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth. ## Epidemiology Prevalence is unknown. ## Clinical description The disease is associated with fine, slow growing hair, and sometimes with immune deficiencies. Other symptoms include short hands and possibly short, deformed limbs (varus). X-ray reveals metaphyseal lesions, especially in the knees, and large, round epiphyses during childhood. Short stature is common and has very early onset but immune deficiency is not always present. The disease course is variable. ## Etiology Mutations in the RMRP (RNA component of mitochondrial RNA-processing endoribonuclease) gene, which maps to the 9p21-p12 locus, are responsible for the disease. ## Diagnostic methods The diagnosis is confirmed by direct sequencing of the RMRP gene. ## Differential diagnosis The differential diagnosis should include other forms of short-limb dwarfism. ## Antenatal diagnosis A recurrence risk of 25% justifies prenatal diagnosis, which is possible through molecular analysis if the causative mutation has already been identified in a proband. Micromelia may be detected early in pregnancy during ultrasound follow up, but is not specific. ## Genetic counseling Cartilage-hair hypoplasia is inherited in an autosomal recessive manner. ## Management and treatment Immunodeficiency, when severe, may require bone marrow transplantation but this does not have any effect on the growth deficiency. ## Prognosis The prognosis depends on the presence and severity of the immune deficiency and the possible association with Hirschsprung disease (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-aminobutyric 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	Cartilage-hair hypoplasia	c0220748	26,492	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=175	2021-01-23T18:46:18	{"gard": ["6996"], "mesh": ["C535916"], "omim": ["250250", "250460"], "umls": ["C0220748"], "icd-10": ["Q78.8"], "synonyms": ["Autosomal recessive metaphyseal chondrodysplasia", "Metaphyseal chondrodysplasia, McKusick type"]}
A number sign (#) is used with this entry because of evidence that isolated congenital asplenia (ICAS) is caused by heterozygous mutation in the RPSA gene (150370) on chromosome 3p21. Description Isolated congenital asplenia is a rare cause of primary immunodeficiency. Most affected individuals die of severe bacterial infections in early childhood. Isolated asplenia is distinct from asplenia associated with other complex visceral defects, notably heterotaxy syndromes such as Ivemark syndrome (208530) (summary by Mahlaoui et al., 2011). Clinical Features Kevy et al. (1968) described a sibship, with consanguineous parents, in which 1 of 2 boys and 2 of 3 girls had splenic hypoplasia. One of the children died at 10 months of overwhelming haemophilus influenzae sepsis. The other 2 had repeated episodes of pneumococcal meningitis and H. influenzae sepsis. Absence of the spleen was demonstrated by radioactive scanning after injection of Au(198) colloid and chromium-tagged, heated red cells, by the presence of Howell-Jolly bodies and Heinz bodies in the peripheral blood, and by failure to synthesize antibody to sheep red blood cells injected intravenously. The situation is comparable to that in infants in whom the spleen is removed in early life. Among 60 children with asplenia or polysplenia studied in Toronto, Rose et al. (1975) found 2 families in which 2 sibs had isolated asplenia and 1 family in which 2 sibs had polysplenia. Gates and Black (1986) reported a family ascertained through 2 children, a 5.5-month-old girl and a 3.5-year-old boy, who died from fulminant pneumococcal sepsis. Neither child had Howell-Jolly bodies on peripheral blood smear. Autopsy on each child revealed marked hyposplenia and no other anatomic abnormalities. The mother was demonstrated to have splenic hypoplasia by ultrasound. A male infant delivered at 6 weeks' gestation was found on isotope studies to have no splenic activities although ultrasound showed a splenic mass. Dyke et al. (1991), Gill and Kara (1991), and Moore (1991) discussed septicemia and adrenal hemorrhage in congenital asplenia. Gillis et al. (1992) described a boy and a girl, offspring of nonconsanguineous white Australian parents, with fulminant infections early in life. Blood films from both children showed numerous erythrocytes containing Howell-Jolly bodies. Gillis et al. (1992) presented this as an instance of recessively inherited congenital asplenia with normal heart. Ferlicot et al. (1997) reported a French family in which a previously healthy 22-month-old boy was hospitalized after he sustained a fall followed by vomiting. Examination revealed a conscious child with no neurologic deficits, but he had fever of 40 degrees centigrade. He continued to be febrile and died 7 hours after admission following an episode of cardiorespiratory distress requiring intubation. Postmortem bacteriologic analysis revealed Streptococcus pneumoniae in his cerebrospinal fluid and blood, and autopsy showed a normally situated but very small spleen containing a large fibrous nodule surrounded by abundant iron deposits. There was preservation of the remainder of the splenic architecture, which consisted largely of red pulp; on histology, only 3 Malpighian corpuscles could be distinguished. Ferlicot et al. (1997) concluded that this degree of splenic hypoplasia represented functional congenital asplenia. Ultrasonographic examination of the patient's parents and twin sister revealed no splenic anomalies. Gilbert et al. (2002) reported an 11-month-old girl with isolated congenital asplenia who developed recurrent pneumococcal meningitis. The first episode was successfully treated, but the second was fatal. Howell-Jolly bodies were found afterwards on blood smears taken during the first episode of pneumococcal meningitis. Her father had developed pneumococcal meningitis, which improved with parenteral antibiotic treatment. Howell-Jolly bodies were present on blood smears from the father but were ascribed to a spleen injury. The father was shown to be asplenic by ultrasound and abdominal CT after the death of the child. Gilbert et al. (2002) reviewed 31 cases in the literature, of which 13 were sporadic and 18 were familial (from 8 families). Of the 8 families, the pattern of only 1 (Kevy et al., 1968) favored autosomal recessive inheritance. Gilbert et al. (2002) emphasized the importance of checking for Howell-Jolly bodies on blood smears and performing an ultrasound examination to rapidly diagnose congenital asplenia to allow life-saving antibiotic prophylaxis and pneumococcal vaccination. Mahlaoui et al. (2011) reported the retrospective identification of 20 patients from 10 unrelated French families with isolated congenital asplenia or hyposplenia, 2 of which had been previously described (family B, Ferlicot et al., 1997; family C, Gilbert et al., 2002). None of the families was consanguineous. The median age at diagnosis was 11 months, and most symptomatic patients presented by 12 months of age with an invasive bacterial infection, most commonly Streptococcus pneumoniae. All 13 patients tested had Howell-Jolly bodies on peripheral blood smear, and 4 patients had thrombocytosis. Other immunologic studies were normal, and patients developed antibody responses. Nine (45%) of 20 patients died of overwhelming sepsis at a median age of 12 months. There appeared to be a decreasing incidence of severe infections with age. Koss et al. (2012) reported detailed features of a family of African descent with congenital asplenia (family E in Mahlaoui et al., 2011). In this family, 3 children died of fulminant infection within the first year of life; they were not further studied. A fourth child died of sepsis at age 23 months. Postmortem examination of this child showed asplenia with normal heart and visceral placement. The fifth child and the father were found to have ICAS; the child was placed on prophylaxis, whereas the father did not have a history of infections, suggesting incomplete penetrance. Inheritance The possibility of autosomal dominant inheritance of congenital hyposplenia was raised by Gates and Black (1986). An autosomal dominant mode of inheritance was plausible in 4 of the 10 families studied by Mahlaoui et al. (2011). Lindor et al. (1995) reported 2 father-son pairs with isolated nonsyndromal asplenia and suggested that this may represent an autosomal trait due to mutation in a gene involved in spleen development and determination of laterality. Bolze et al. (2013) found heterozygous mutations with complete penetrance in 8 kindreds, confirming autosomal dominant inheritance. Molecular Genetics Bolze et al. (2013) studied 33 patients with isolated congenital asplenia from 23 kindreds, including 5 kindreds previously reported by Mahlaoui et al. (2011) and the family described by Ferlicot et al. (1997). They identified 7 different heterozygous mutations in the RPSA gene (150370.0001-150370.0007) in 18 patients from 8 kindreds corresponding to more than half the patients and over one-third of the kindreds studied. The clinical penetrance in these kindreds was complete. Expression studies indicated that mutations carried by the patients (a nonsense mutation, a frameshift duplication, and 5 different missense mutations) caused autosomal dominant ICAS by haploinsufficiency. Index patients were recruited to the study on the basis of 3 criteria: no spleen or very small spleen detected by ultrasound; presence of Howell-Jolly bodies in blood smears; and absence of congenital heart defects. Population Genetics Mahlaoui et al. (2011) estimated the incidence of congenital asplenia to be 0.51 per 1 million births in France, based on birth records between 1957 and 2006. Animal Model Roberts et al. (1994) found isolated asplenia in mice with homozygous deficiency for the Hox11 gene (186770). History In 3 members of a family of African descent with isolated congenital asplenia, Koss et al. (2012) identified a heterozygous mutation in the NKX2-5 gene (P236H; 600584.0024). The family had previously been reported as family E by Mahlaoui et al. (2011). Bolze et al. (2013) found that affected members of this family (kindred B) carried a heterozygous mutation in the RPSA gene (R186C; 150370.0005). In total, Bolze et al. (2013) identified heterozygous coding mutations underlying isolated congenital asplenia in all 8 multiplex families displaying an autosomal dominant pattern of inheritance investigated. Collectively, their results suggested that heterozygous coding mutations in RPSA underlie most cases of isolated congenital asplenia, with apparently complete penetrance. INHERITANCE \- Autosomal dominant ABDOMEN Spleen \- Asplenia \- Hyposplenia IMMUNOLOGY \- Recurrent severe and invasive bacterial infections LABORATORY ABNORMALITIES \- Howell-Jolly bodies seen in peripheral blood smear \- Thrombocytosis (in some patients) MISCELLANEOUS \- Onset in infancy \- Life-threatening in infancy due to sepsis \- Most patients have severe Streptococcus pneumoniae infections \- Incidence of 0.51 per million in France MOLECULAR BASIS \- Caused by mutation in the ribosomal protein SA gene (RPSA, 150370.0001 ) ▲ 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-aminobutyric 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	ASPLENIA, ISOLATED CONGENITAL	c0685889	26,493	omim	https://www.omim.org/entry/271400	2019-09-22T16:22:11	{"mesh": ["C563028"], "omim": ["271400"], "orphanet": ["101351"], "synonyms": ["SPLENIC HYPOPLASIA", "Alternative titles", "HYPOSPLENIA, ISOLATED CONGENITAL", "ASPLENIA, FAMILIAL"]}
"Yeast infection" redirects here. For yeast infections affecting the vagina, see vaginal yeast infection. For the invasive form of Candidiasis, see Candidemia. fungal infection due to any type of Candida Candidiasis Other namesCandidosis, moniliasis, oidiomycosis[1] Oral candidiasis (thrush) SpecialtyInfectious disease SymptomsWhite patches or vaginal discharge, itchy[2][3] CausesCandida (a type of yeast)[4] Risk factorsImmunosuppression (HIV/AIDS), diabetes, corticosteroids, antibiotic therapy[5] MedicationClotrimazole, nystatin, fluconazole[6] Frequency6% of babies (mouth)[7] 75% of women at some time (vaginal)[8] Candidiasis is a fungal infection due to any type of Candida (a type of yeast).[4] When it affects the mouth, in some countries it is commonly called thrush.[3] Signs and symptoms include white patches on the tongue or other areas of the mouth and throat.[3] Other symptoms may include soreness and problems swallowing.[9] When it affects the vagina, it may be referred to as a yeast infection or thrush.[2][10] Signs and symptoms include genital itching, burning, and sometimes a white "cottage cheese-like" discharge from the vagina.[11] Yeast infections of the penis are less common and typically present with an itchy rash.[11] Very rarely, yeast infections may become invasive, spreading to other parts of the body.[12] This may result in fevers along with other symptoms depending on the parts involved.[12] More than 20 types of Candida can cause infection with Candida albicans being the most common.[13] Infections of the mouth are most common among children less than one month old, the elderly, and those with weak immune systems.[5] Conditions that result in a weak immune system include HIV/AIDS, the medications used after organ transplantation, diabetes, and the use of corticosteroids.[5] Other risks include dentures, following antibiotic therapy, and breastfeeding.[5][14] Vaginal infections occur more commonly during pregnancy, in those with weak immune systems, and following antibiotic use.[15] Individuals at risk for invasive candidiasis include low birth weight babies, people recovering from surgery, people admitted to intensive care units, and those with an otherwise compromised immune system.[16] Efforts to prevent infections of the mouth include the use of chlorhexidine mouthwash in those with poor immune function and washing out the mouth following the use of inhaled steroids.[6] Little evidence supports probiotics for either prevention or treatment, even among those with frequent vaginal infections.[17][18] For infections of the mouth, treatment with topical clotrimazole or nystatin is usually effective.[6] Oral or intravenous fluconazole, itraconazole, or amphotericin B may be used if these do not work.[6] A number of topical antifungal medications may be used for vaginal infections, including clotrimazole.[19] In those with widespread disease, an echinocandin such as caspofungin or micafungin is used.[20] A number of weeks of intravenous amphotericin B may be used as an alternative.[20] In certain groups at very high risk, antifungal medications may be used preventatively.[16][20] Infections of the mouth occur in about 6% of babies less than a month old.[7] About 20% of those receiving chemotherapy for cancer and 20% of those with AIDS also develop the disease.[7] About three-quarters of women have at least one yeast infection at some time during their lives.[8] Widespread disease is rare except in those who have risk factors.[21] ## Contents * 1 Signs and symptoms * 1.1 Mouth * 1.2 Genitals * 1.3 Skin * 1.4 Invasive infection * 2 Causes * 3 Diagnosis * 3.1 Classification * 4 Prevention * 5 Treatment * 5.1 Localized infection * 5.2 Blood infection * 6 Prognosis * 7 Epidemiology * 8 History * 9 Alternative medicine * 10 Research * 11 References * 12 External links ## Signs and symptoms[edit] Skin candidiasis Vaginal yeast infection Nail candidiasis (onychomycosis) Signs and symptoms of candidiasis vary depending on the area affected.[22] Most candidal infections result in minimal complications such as redness, itching, and discomfort, though complications may be severe or even fatal if left untreated in certain populations. In healthy (immunocompetent) persons, candidiasis is usually a localized infection of the skin, fingernails or toenails (onychomycosis), or mucosal membranes, including the oral cavity and pharynx (thrush), esophagus, and the genitalia (vagina, penis, etc.);[23][24][25] less commonly in healthy individuals, the gastrointestinal tract,[26][27][28] urinary tract,[26] and respiratory tract[26] are sites of candida infection. In immunocompromised individuals, Candida infections in the esophagus occur more frequently than in healthy individuals and have a higher potential of becoming systemic, causing a much more serious condition, a fungemia called candidemia.[23][29][30] Symptoms of esophageal candidiasis include difficulty swallowing, painful swallowing, abdominal pain, nausea, and vomiting.[23][31] ### Mouth[edit] Infection in the mouth is characterized by white discolorations in the tongue, around the mouth, and throat. Irritation may also occur, causing discomfort when swallowing.[32] Thrush is commonly seen in infants. It is not considered abnormal in infants unless it lasts longer than a few weeks.[33] ### Genitals[edit] Infection of the vagina or vulva may cause severe itching, burning, soreness, irritation, and a whitish or whitish-gray cottage cheese-like discharge. Symptoms of infection of the male genitalia (balanitis thrush) include red skin around the head of the penis, swelling, irritation, itchiness and soreness of the head of the penis, thick, lumpy discharge under the foreskin, unpleasant odour, difficulty retracting the foreskin (phimosis), and pain when passing urine or during sex.[34] ### Skin[edit] Signs and symptoms of candidiasis in the skin include itching, irritation, and chafing or broken skin.[35] ### Invasive infection[edit] Common symptoms of gastrointestinal candidiasis in healthy individuals are anal itching, belching, bloating, indigestion, nausea, diarrhea, gas, intestinal cramps, vomiting, and gastric ulcers.[26][27][28] Perianal candidiasis can cause anal itching; the lesion can be red, papular, or ulcerative in appearance, and it is not considered to be a sexually transmissible disease.[36] Abnormal proliferation of the candida in the gut may lead to dysbiosis.[37] While it is not yet clear, this alteration may be the source of symptoms generally described as the irritable bowel syndrome,[38][39] and other gastrointestinal diseases.[27][40] ## Causes[edit] Main article: Candida (fungus) Candida yeasts are generally present in healthy humans, frequently part of the human body's normal oral and intestinal flora, and particularly on the skin; however, their growth is normally limited by the human immune system and by competition of other microorganisms, such as bacteria occupying the same locations in the human body.[41] Candida requires moisture for growth, notably on the skin.[42] For example, wearing wet swimwear for long periods of time is believed to be a risk factor.[43] Candida can also cause diaper rashes in babies.[35] In extreme cases, superficial infections of the skin or mucous membranes may enter the bloodstream and cause systemic Candida infections. Factors that increase the risk of candidiasis include HIV/AIDS, mononucleosis, cancer treatments, steroids, stress, antibiotic usage, diabetes, and nutrient deficiency. Hormone replacement therapy and infertility treatments may also be predisposing factors.[44] Use of inhaled corticosteroids increases risk of candidiasis of the mouth.[45] Inhaled corticosteroids with other risk factors such as antibiotics, oral glucocorticoids, not rinsing mouth after use of inhaled corticosteroids or high dose of inhaled corticosteroids put people at even higher risk.[45] Treatment with antibiotics can lead to eliminating the yeast's natural competitors for resources in the oral and intestinal flora, thereby increasing the severity of the condition.[46] A weakened or undeveloped immune system or metabolic illnesses are significant predisposing factors of candidiasis.[47] Almost 15% of people with weakened immune systems develop a systemic illness caused by Candida species.[48] Diets high in simple carbohydrates have been found to affect rates of oral candidiases.[49] C. albicans was isolated from the vaginas of 19% of apparently healthy women, i.e., those who experienced few or no symptoms of infection. External use of detergents or douches or internal disturbances (hormonal or physiological) can perturb the normal vaginal flora, consisting of lactic acid bacteria, such as lactobacilli, and result in an overgrowth of Candida cells, causing symptoms of infection, such as local inflammation.[50] Pregnancy and the use of oral contraceptives have been reported as risk factors.[51] Diabetes mellitus and the use of antibiotics are also linked to increased rates of yeast infections.[51] In penile candidiasis, the causes include sexual intercourse with an infected individual, low immunity, antibiotics, and diabetes. Male genital yeast infections are less common, but a yeast infection on the penis caused from direct contact via sexual intercourse with an infected partner is not uncommon.[52] Breast-feeding mothers may also develop candidiasis on and around the nipple as a result of moisture created by excessive milk-production.[14] Vaginal candidiasis can cause congenital candidiasis in newborns.[53] ## Diagnosis[edit] Agar plate culture of C. albicans KOH test on a vaginal wet mount, showing slings of pseudohyphae of Candida albicans surrounded by round vaginal epithelial cells, conferring a diagnosis of candidal vulvovaginitis Micrograph of esophageal candidiasis showing hyphae, biopsy specimen, PAS stain In oral candidiasis, simply inspecting the person's mouth for white patches and irritation may make the diagnosis. A sample of the infected area may also be taken to determine what organism is causing the infection.[54] Symptoms of vaginal candidiasis are also present in the more common bacterial vaginosis;[55] aerobic vaginitis is distinct and should be excluded in the differential diagnosis.[56] In a 2002 study, only 33% of women who were self-treating for a yeast infection actually had such an infection, while most had either bacterial vaginosis or a mixed-type infection.[57] Diagnosis of a yeast infection is done either via microscopic examination or culturing. For identification by light microscopy, a scraping or swab of the affected area is placed on a microscope slide. A single drop of 10% potassium hydroxide (KOH) solution is then added to the specimen. The KOH dissolves the skin cells, but leaves the Candida cells intact, permitting visualization of pseudohyphae and budding yeast cells typical of many Candida species. For the culturing method, a sterile swab is rubbed on the infected skin surface. The swab is then streaked on a culture medium. The culture is incubated at 37 °C (98.6 °F) for several days, to allow development of yeast or bacterial colonies. The characteristics (such as morphology and colour) of the colonies may allow initial diagnosis of the organism causing disease symptoms.[58] Respiratory, gastrointestinal, and esophageal candidiasis require an endoscopy to diagnose.[28][59] For gastrointestinal candidiasis, it is necessary to obtain a 3–5 milliliter sample of fluid from the duodenum for fungal culture.[28] The diagnosis of gastrointestinal candidiasis is based upon the culture containing in excess of 1,000 colony-forming units per milliliter.[28] ### Classification[edit] Candidiasis may be divided into these types: * Mucosal candidiasis * Oral candidiasis (thrush, oropharyngeal candidiasis)[23][25] * Pseudomembranous candidiasis[25] * Erythematous candidiasis[23][25] * Hyperplastic candidiasis[25] * Denture-related stomatitis[23][25] — Candida organisms are involved in about 90% of cases * Angular cheilitis[23][25] — Candida species are responsible for about 20% of cases, mixed infection of C. albicans and Staphylococcus aureus for about 60% of cases. * Median rhomboid glossitis[25] * Candidal vulvovaginitis (vaginal yeast infection)[23][60] * Candidal balanitis — infection of the glans penis,[23] almost exclusively occurring in uncircumcised males[61] * Esophageal candidiasis (candidal esophagitis)[23][31] * Gastrointestinal candidiasis[26][27][28] * Respiratory candidiasis[23][26] * Cutaneous candidiasis * Candidial folliculitis[23] * Candidal intertrigo[23] * Candidal paronychia[23] * Perianal candidiasis, may present as pruritus ani[1]:309 * Candidid * Chronic mucocutaneous candidiasis[23] * Congenital cutaneous candidiasis[53] * Diaper candidiasis: an infection of a child's diaper area[1]:309 * Erosio interdigitalis blastomycetica * Candidial onychomycosis (nail infection) caused by Candida[23][62] * Systemic candidiasis[23] * Candidemia, a form of fungemia which may lead to sepsis[23] * Invasive candidiasis (disseminated candidiasis) — organ infection by Candida[23] * Chronic systemic candidiasis (hepatosplenic candidiasis) — sometimes arises during recovery from neutropenia[23][63] * Antibiotic candidiasis (iatrogenic candidiasis) ## Prevention[edit] A diet that supports the immune system and is not high in simple carbohydrates contributes to a healthy balance of the oral and intestinal flora.[41][49] While yeast infections are associated with diabetes, the level of blood sugar control may not affect the risk.[64] Wearing cotton underwear may help to reduce the risk of developing skin and vaginal yeast infections, along with not wearing wet clothes for long periods of time.[15][43] For women who experience recurrent yeast infections, there is limited evidence that oral or intravaginal probiotics help to prevent future infections.[17][65] This includes either as pills or as yogurt.[17] Oral hygiene can help prevent oral candidiasis when people have a weakened immune system.[5] For people undergoing cancer treatment, chlorhexidine mouthwash can prevent or reduce thrush.[5] People who use inhaled corticosteroids can reduce the risk of developing oral candidiasis by rinsing the mouth with water or mouthwash after using the inhaler.[5] People with dentures should also disinfect their dentures regularly to prevent oral candidiasis.[54] ## Treatment[edit] Candidiasis is treated with antifungal medications; these include clotrimazole, nystatin, fluconazole, voriconazole, amphotericin B, and echinocandins.[20] Intravenous fluconazole or an intravenous echinocandin such as caspofungin are commonly used to treat immunocompromised or critically ill individuals.[20] The 2016 revision of the clinical practice guideline for the management of candidiasis lists a large number of specific treatment regimens for Candida infections that involve different Candida species, forms of antifungal drug resistance, immune statuses, and infection localization and severity.[20] Gastrointestinal candidiasis in immunocompetent individuals is treated with 100–200 mg fluconazole per day for 2–3 weeks.[28] ### Localized infection[edit] Mouth and throat candidiasis are treated with antifungal medication. Oral candidiasis usually responds to topical treatments; otherwise, systemic antifungal medication may be needed for oral infections. Candidal skin infections in the skin folds (candidal intertrigo) typically respond well to topical antifungal treatments (e.g., nystatin or miconazole). For breastfeeding mothers topical miconazole is the most effective treatment for treating candidiasis on the breasts.[66] Gentian violet can be used for thrush in breastfeeding babies.[14] Systemic treatment with antifungals by mouth is reserved for severe cases or if treatment with topical therapy is unsuccessful. Candida esophagitis may be treated orally or intravenously; for severe or azole-resistant esophageal candidiasis, treatment with amphotericin B may be necessary.[6] Vaginal yeast infections are typically treated with topical antifungal agents.[20] A one-time dose of fluconazole by mouth is 90% effective in treating a vaginal yeast infection.[67] For severe nonrecurring cases, several doses of fluconazole is recommended.[20] Local treatment may include vaginal suppositories or medicated douches. Other types of yeast infections require different dosing. C. albicans can develop resistance to fluconazole, this being more of an issue in those with HIV/AIDS who are often treated with multiple courses of fluconazole for recurrent oral infections.[68] For vaginal yeast infection in pregnancy, topical imidazole or triazole antifungals are considered the therapy of choice owing to available safety data.[69] Systemic absorption of these topical formulations is minimal, posing little risk of transplacental transfer.[69] In vaginal yeast infection in pregnancy, treatment with topical azole antifungals is recommended for 7 days instead of a shorter duration.[69] For vaginal yeast infections, many complementary treatments are proposed, however a number have side effects.[70] No benefit from probiotics has been found for active infections.[18] ### Blood infection[edit] Treatment typically consists of oral or intravenous antifungal medications.[71] In candidal infections of the blood, intravenous fluconazole or an echinocandin such as caspofungin may be used.[20] Amphotericin B is another option.[20] ## Prognosis[edit] Among individuals being treated in intensive care units, the mortality rate is about 30–50% when systemic candidiasis develops.[72] ## Epidemiology[edit] Oral candidiasis is the most common fungal infection of the mouth,[73] and it also represents the most common opportunistic oral infection in humans.[74] Infections of the mouth occur in about 6% of babies less than a month old.[7] About 20% of those receiving chemotherapy for cancer and 20% of those with AIDS also develop the disease.[7] It is estimated that 20% of women may be asymptomatically colonized by vaginal yeast.[75] In the United States there are approximately 1.4 million doctor office visits every year for candidiasis.[76] About three-quarters of women have at least one yeast infection at some time during their lives.[8] Esophageal candidiasis is the most common esophageal infection in persons with AIDS and accounts for about 50% of all esophageal infections, often coexisting with other esophageal diseases. About two-thirds of people with AIDS and esophageal candidiasis also have oral candidiasis.[31] Candidal sepsis is rare.[77] Candida is the fourth most common cause of bloodstream infections among hospital patients in the United States.[78] ## History[edit] Descriptions of what sounds like oral thrush go back to the time of Hippocrates circa 460–370 BCE.[22] Vulvovaginal candidiasis was first described in 1849 by Wilkinson.[79] In 1875, Haussmann demonstrated the causative organism in both vulvovaginal and oral candidiasis is the same.[79] With the advent of antibiotics following World War II, the rates of candidiasis increased. The rates then decreased in the 1950s following the development of nystatin.[80] The colloquial term "thrush" refers to the resemblance of the white flecks present in some forms of candidiasis (e.g. pseudomembranous candidiasis) with the breast of the bird of the same name.[81] The term candidosis is largely used in British English, and candidiasis in American English.[79] Candida is also pronounced differently; in American English, the stress is on the "i", whereas in British English the stress is on the first syllable. The genus Candida and species C. albicans were described by botanist Christine Marie Berkhout in her doctoral thesis at the University of Utrecht in 1923. Over the years, the classification of the genera and species has evolved. Obsolete names for this genus include Mycotorula and Torulopsis. The species has also been known in the past as Monilia albicans and Oidium albicans. The current classification is nomen conservandum, which means the name is authorized for use by the International Botanical Congress (IBC).[82] The genus Candida includes about 150 different species; however, only a few are known to cause human infections. C. albicans is the most significant pathogenic species. Other species pathogenic in humans include C. auris, C. tropicalis, C. glabrata, C. krusei, C. parapsilosis, C. dubliniensis, and C. lusitaniae. The name Candida was proposed by Berkhout. It is from the Latin word toga candida, referring to the white toga (robe) worn by candidates for the Senate of the ancient Roman republic.[79] The specific epithet albicans also comes from Latin, albicare meaning "to whiten".[79] These names refer to the generally white appearance of Candida species when cultured. ## Alternative medicine[edit] Main article: Chronic candidiasis A 2005 publication noted that "a large pseudoscientific cult"[83] has developed around the topic of Candida, with claims stating that up to one in three people are affected by yeast-related illness, particularly a condition called "Candidiasis hypersensitivity".[84] Some practitioners of alternative medicine have promoted these purported conditions and sold dietary supplements as supposed cures; a number of them have been prosecuted.[84][85] In 1990, alternative health vendor Nature's Way signed an FTC consent agreement not to misrepresent in advertising any self-diagnostic test concerning yeast conditions or to make any unsubstantiated representation concerning any food or supplement's ability to control yeast conditions, with a fine of $30,000 payable to the National Institutes of Health for research in genuine candidiasis.[85] ## Research[edit] High level Candida colonization is linked to several diseases of the gastrointestinal tract including Crohn's disease.[86][87] There has been an increase in resistance to antifungals worldwide over the past 30–40 years.[88][89] ## References[edit] 1. ^ a b c James WD, Elston DM, Berger TG, Andrews GC, et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. pp. 308–311. ISBN 978-0-7216-2921-6. 2. ^ a b "Vaginal Candidiasis". Fungal Diseases. United States: Centers for Disease Control and Prevention. 13 November 2019. Retrieved 24 Dec 2019. 3. ^ a b c "Candida infections of the mouth, throat, and esophagus". Fungal Diseases. United States: Centers for Disease Control and Prevention. 13 November 2019. Retrieved 24 Dec 2019. 4. ^ a b "Candidiasis". Fungal Diseases. United States: Centers for Disease Control and Prevention. 13 November 2019. Retrieved 24 Dec 2019. 5. ^ a b c d e f g "Risk & Prevention". cdc.gov. February 13, 2014. Retrieved 28 December 2014. 6. ^ a b c d e "Treatment & Outcomes of Oral Candidiasis". cdc.gov. February 13, 2014. Retrieved 28 December 2014. 7. ^ a b c d e "Oral Candidiasis Statistics". cdc.gov. February 13, 2014. Archived from the original on 29 December 2014. Retrieved 28 December 2014. 8. ^ a b c "Genital / vulvovaginal candidiasis (VVC)". cdc.gov. February 13, 2014. Archived from the original on 29 December 2014. Retrieved 28 December 2014. 9. ^ "Symptoms of Oral Candidiasis". cdc.gov. February 13, 2014. Archived from the original on 29 December 2014. Retrieved 28 December 2014. 10. ^ "Thrush in men and women". nhs.uk. 9 January 2018. Retrieved 16 March 2020. 11. ^ a b "Symptoms of Genital / Vulvovaginal Candidiasis". cdc.gov. February 13, 2014. Archived from the original on 29 December 2014. Retrieved 28 December 2014. 12. ^ a b "Symptoms of Invasive Candidiasis". cdc.gov. February 13, 2014. Archived from the original on 29 December 2014. Retrieved 28 December 2014. 13. ^ "Candidiasis". cdc.gov. February 13, 2014. Archived from the original on 29 December 2014. Retrieved 28 December 2014. 14. ^ a b c Walker M (2008). "Conquering common breast-feeding problems". The Journal of Perinatal & Neonatal Nursing. 22 (4): 267–74. doi:10.1097/01.JPN.0000341356.45446.23. PMID 19011490. S2CID 27801867. 15. ^ a b "People at Risk for Genital / Vulvovaginal Candidiasis". cdc.gov. February 13, 2014. Archived from the original on 29 December 2014. Retrieved 28 December 2014. 16. ^ a b "People at Risk for Invasive Candidiasis". cdc.gov. February 13, 2014. Archived from the original on 29 December 2014. Retrieved 28 December 2014. 17. ^ a b c Jurden L, Buchanan M, Kelsberg G, Safranek S (June 2012). "Clinical inquiries. Can probiotics safely prevent recurrent vaginitis?". The Journal of Family Practice. 61 (6): 357, 368. PMID 22670239. 18. ^ a b Abad CL, Safdar N (June 2009). "The role of lactobacillus probiotics in the treatment or prevention of urogenital infections--a systematic review". Journal of Chemotherapy. 21 (3): 243–52. doi:10.1179/joc.2009.21.3.243. PMID 19567343. S2CID 32398416. 19. ^ "Treatment & Outcomes of Genital / Vulvovaginal Candidiasis". cdc.gov. February 13, 2014. Archived from the original on 29 December 2014. Retrieved 28 December 2014. 20. ^ a b c d e f g h i j Pappas PG, Kauffman CA, Andes DR, Clancy CJ, Marr KA, Ostrosky-Zeichner L, et al. (February 2016). "Executive Summary: Clinical Practice Guideline for the Management of Candidiasis: 2016 Update by the Infectious Diseases Society of America". Clinical Infectious Diseases. 62 (4): 409–17. doi:10.1093/cid/civ1194. PMID 26810419. 21. ^ "Invasive Candidiasis Statistics". cdc.gov. February 13, 2014. Archived from the original on 29 December 2014. Retrieved 28 December 2014. 22. ^ a b Dolin GL, Mandell JE, Bennett R (2010). Mandell, Douglas, and Bennett's principles and practice of infectious diseases (7th ed.). Philadelphia, PA: Churchill Livingstone/Elsevier. pp. Chapter 250. ISBN 978-0-443-06839-3. 23. ^ a b c d e f g h i j k l m n o p q r s t Hidalgo JA, Vazquez JA (18 August 2015). "Candidiasis: Clinical Presentation". Medscape. WebMD. Archived from the original on 1 June 2016. Retrieved 22 June 2016. 24. ^ Walsh TJ, Dixon DM (1996). "Deep Mycoses". In Baron S, et al. (eds.). Baron's Medical Microbiology (4th ed.). Univ of Texas Medical Branch. ISBN 978-0-9631172-1-2. Archived from the original on 2008-12-01. 25. ^ a b c d e f g h Patil S, Rao RS, Majumdar B, Anil S (December 2015). "Clinical Appearance of Oral Candida Infection and Therapeutic Strategies". Frontiers in Microbiology. 6: 1391. doi:10.3389/fmicb.2015.01391. PMC 4681845. PMID 26733948. 26. ^ a b c d e f Martins N, Ferreira IC, Barros L, Silva S, Henriques M (June 2014). "Candidiasis: predisposing factors, prevention, diagnosis and alternative treatment" (PDF). Mycopathologia. 177 (5–6): 223–40. doi:10.1007/s11046-014-9749-1. hdl:10198/10147. PMID 24789109. S2CID 795450. "Candida species and other microorganisms are involved in this complicated fungal infection, but Candida albicans continues to be the most prevalent. In the past two decades, it has been observed an abnormal overgrowth in the gastrointestinal, urinary and respiratory tracts, not only in immunocompromised patients but also related to nosocomial infections and even in healthy individuals. There is a wide variety of causal factors that contribute to yeast infection which means that candidiasis is a good example of a multifactorial syndrome." 27. ^ a b c d Wang ZK, Yang YS, Stefka AT, Sun G, Peng LH (April 2014). "Review article: fungal microbiota and digestive diseases". Alimentary Pharmacology & Therapeutics. 39 (8): 751–66. doi:10.1111/apt.12665. PMID 24612332. S2CID 22101484. "In addition, GI fungal infection is reported even among those patients with normal immune status. Digestive system-related fungal infections may be induced by both commensal opportunistic fungi and exogenous pathogenic fungi. The IFI in different GI sites have their special clinical features, which are often accompanied by various severe diseases. Although IFI associated with digestive diseases are less common, they can induce fatal outcomes due to less specificity of related symptoms, signs, endoscopic and imaging manifestations, and the poor treatment options. ... Candida sp. is also the most frequently identified species among patients with gastric IFI. ... Gastric IFI is often characterised by the abdominal pain and vomiting and with the endoscopic characteristics including gastric giant and multiple ulcers, stenosis, perforation, and fistula. For example, gastric ulcers combined with entogastric fungal infection, characterised by deep, large and intractable ulcers,[118] were reported as early as the 1930s. ... The overgrowth and colonisation of fungi in intestine can lead to diarrhoea." 28. ^ a b c d e f g Erdogan A, Rao SS (April 2015). "Small intestinal fungal overgrowth". Current Gastroenterology Reports. 17 (4): 16. doi:10.1007/s11894-015-0436-2. PMID 25786900. S2CID 3098136. "Small intestinal fungal overgrowth (SIFO) is characterized by the presence of excessive number of fungal organisms in the small intestine associated with gastrointestinal (GI) symptoms. Candidiasis is known to cause GI symptoms particularly in immunocompromised patients or those receiving steroids or antibiotics. However, only recently, there is emerging literature that an overgrowth of fungus in the small intestine of non-immunocompromised subjects may cause unexplained GI symptoms. Two recent studies showed that 26 % (24/94) and 25.3 % (38/150) of a series of patients with unexplained GI symptoms had SIFO. The most common symptoms observed in these patients were belching, bloating, indigestion, nausea, diarrhea, and gas. The underlying mechanism(s) that predisposes to SIFO is unclear but small intestinal dysmotility and use of proton pump inhibitors has been implicated. However, further studies are needed; both to confirm these observations and to examine the clinical relevance of fungal overgrowth, both in healthy subjects and in patients with otherwise unexplained GI symptoms. ... For routine SIFO in an immunocompetent host, a 2–3 week oral course of fluconazole 100–200 mg will suffice." 29. ^ Fidel PL (2002). "Immunity to Candida". Oral Diseases. 8 Suppl 2: 69–75. doi:10.1034/j.1601-0825.2002.00015.x. PMID 12164664. 30. ^ Pappas PG (September 2006). "Invasive candidiasis". Infectious Disease Clinics of North America. 20 (3): 485–506. doi:10.1016/j.idc.2006.07.004. PMID 16984866. 31. ^ a b c Yamada T, Alpers DH, et al. (2009). Textbook of gastroenterology (5th ed.). Chichester, West Sussex: Blackwell Pub. p. 814. ISBN 978-1-4051-6911-0. 32. ^ "Candida infections of the mouth, throat, and esophagus \| Fungal Diseases \| CDC". www.cdc.gov. 2019-04-17. Retrieved 2019-08-01. 33. ^ "Thrush". 2011. Archived from the original on 2011-02-10. Retrieved 2011-04-08. 34. ^ NHS: Symptoms of thrush in men (balanitis thrush) Archived 2013-11-01 at the Wayback Machine 35. ^ a b "Candida infection of the skin: MedlinePlus Medical Encyclopedia". medlineplus.gov. Retrieved 2019-08-06. 36. ^ Wolff BG, et al., eds. (2007). The ASCRS textbook of colon and rectal surgery. New York: Springer. pp. 241, 242, 245. ISBN 978-0-387-24846-2. 37. ^ Mukherjee PK, Sendid B, Hoarau G, Colombel JF, Poulain D, Ghannoum MA (February 2015). "Mycobiota in gastrointestinal diseases". Nature Reviews. Gastroenterology & Hepatology. 12 (2): 77–87. doi:10.1038/nrgastro.2014.188. PMID 25385227. S2CID 5370536. 38. ^ Santelmann H, Howard JM (January 2005). "Yeast metabolic products, yeast antigens and yeasts as possible triggers for irritable bowel syndrome" (PDF). European Journal of Gastroenterology & Hepatology. 17 (1): 21–6. CiteSeerX 10.1.1.567.6030. doi:10.1097/00042737-200501000-00005. PMID 15647635. S2CID 35882838. 39. ^ Collins SM (August 2014). "A role for the gut microbiota in IBS". Nature Reviews. Gastroenterology & Hepatology. 11 (8): 497–505. doi:10.1038/nrgastro.2014.40. PMID 24751910. S2CID 10676400. 40. ^ Gouba N, Drancourt M (2015). "Digestive tract mycobiota: a source of infection". Médecine et Maladies Infectieuses. 45 (1–2): 9–16. doi:10.1016/j.medmal.2015.01.007. PMID 25684583. 41. ^ a b Mulley AG, Goroll AH (2006). Primary Care Medicine: office evaluation and management of the adult patient. Philadelphia: Wolters Kluwer Health. pp. 802–3. ISBN 978-0-7817-7456-7. Retrieved 2008-11-23. 42. ^ Goehring RV (2008). Mims' medical microbiology (4th ed.). Philadelphia, PA: Mosby Elsevier. p. 656. ISBN 978-0-323-04475-2. 43. ^ a b MedlinePlus Encyclopedia: Vaginal yeast infection 44. ^ Nwokolo NC, Boag FC (May 2000). "Chronic vaginal candidiasis. Management in the postmenopausal patient". Drugs & Aging. 16 (5): 335–9. doi:10.2165/00002512-200016050-00003. PMID 10917071. S2CID 24662417. 45. ^ a b Saag KG, Furst ME, Barnes PJ. "Major side effects of inhaled glucocorticoids". UpToDate. Retrieved 2019-08-02. 46. ^ Bassetti M, Mikulska M, Viscoli C (December 2010). "Bench-to-bedside review: therapeutic management of invasive candidiasis in the intensive care unit". Critical Care. 14 (6): 244. doi:10.1186/cc9239. PMC 3220045. PMID 21144007. 47. ^ Odds FC (1987). "Candida infections: an overview". Critical Reviews in Microbiology. 15 (1): 1–5. doi:10.3109/10408418709104444. PMID 3319417. 48. ^ Choo ZW, Chakravarthi S, Wong SF, Nagaraja HS, Thanikachalam PM, Mak JW, et al. (January 2010). "A comparative histopathological study of systemic candidiasis in association with experimentally induced breast cancer". Oncology Letters. 1 (1): 215–222. doi:10.3892/ol_00000039. PMC 3436220. PMID 22966285. Archived from the original on 2011-07-16. 49. ^ a b Akpan A, Morgan R (August 2002). "Oral candidiasis". Postgraduate Medical Journal. 78 (922): 455–9. doi:10.1136/pmj.78.922.455. PMC 1742467. PMID 12185216. 50. ^ Mårdh PA, Novikova N, Stukalova E (October 2003). "Colonisation of extragenital sites by Candida in women with recurrent vulvovaginal candidosis". BJOG. 110 (10): 934–7. doi:10.1111/j.1471-0528.2003.01445.x. PMID 14550364. S2CID 25585573. 51. ^ a b Schiefer HG (1997). "Mycoses of the urogenital tract". Mycoses. 40 Suppl 2 (Suppl 2): 33–6. doi:10.1111/j.1439-0507.1997.tb00561.x. PMID 9476502. S2CID 27268821. 52. ^ David LM, Walzman M, Rajamanoharan S (October 1997). "Genital colonisation and infection with candida in heterosexual and homosexual males". Genitourinary Medicine. 73 (5): 394–6. doi:10.1136/sti.73.5.394. PMC 1195901. PMID 9534752. 53. ^ a b Skoczylas MM, Walat A, Kordek A, Loniewska B, Rudnicki J, Maleszka R, Torbé A (2014). "Congenital candidiasis as a subject of research in medicine and human ecology". Annals of Parasitology. 60 (3): 179–89. PMID 25281815. 54. ^ a b "Oral thrush - Diagnosis and treatment - Mayo Clinic". www.mayoclinic.org. Retrieved 2019-08-06. 55. ^ Warren T (2010). "Is It a Yeast Infection?". Archived from the original on 2011-02-25. Retrieved 2011-02-23. 56. ^ Donders GG, Vereecken A, Bosmans E, Dekeersmaecker A, Salembier G, Spitz B (January 2002). "Definition of a type of abnormal vaginal flora that is distinct from bacterial vaginosis: aerobic vaginitis". BJOG. 109 (1): 34–43. doi:10.1111/j.1471-0528.2002.00432.x. hdl:10067/1033820151162165141. PMID 11845812. S2CID 8304009. 57. ^ Ferris DG, Nyirjesy P, Sobel JD, Soper D, Pavletic A, Litaker MS (March 2002). "Over-the-counter antifungal drug misuse associated with patient-diagnosed vulvovaginal candidiasis". Obstetrics and Gynecology. 99 (3): 419–25. doi:10.1016/S0029-7844(01)01759-8. PMID 11864668. S2CID 25895596. 58. ^ Guarner, J.; Brandt, M. E. (2011-04-01). "Histopathologic Diagnosis of Fungal Infections in the 21st Century". Clinical Microbiology Reviews. American Society for Microbiology. 24 (2): 247–280. doi:10.1128/cmr.00053-10. ISSN 0893-8512. PMC 3122495. PMID 21482725. 59. ^ Hidalgo JA, Vazquez JA (18 August 2015). "Candidiasis: Workup". Medscape. WebMD. Archived from the original on 11 June 2016. Retrieved 22 June 2016. 60. ^ Mastromarino P, Vitali B, Mosca L (July 2013). "Bacterial vaginosis: a review on clinical trials with probiotics" (PDF). The New Microbiologica. 36 (3): 229–38. PMID 23912864. Archived (PDF) from the original on 2015-05-18. 61. ^ Nyirjesy P, Sobel JD (May 2013). "Genital mycotic infections in patients with diabetes". Postgraduate Medicine. 125 (3): 33–46. doi:10.3810/pgm.2013.05.2650. PMID 23748505. S2CID 25586978. 62. ^ Nolting S, Brautigam M, Weidinger G (April 1994). "Terbinafine in onychomycosis with involvement by non-dermatophytic fungi". The British Journal of Dermatology. 130 Suppl 43: 16–21. doi:10.1111/j.1365-2133.1994.tb06088.x. PMID 8186136. S2CID 37415499. 63. ^ Reiss E, Shadomy HJ, Lyon GM (2011). "Chapter 11". Fundamental medical mycology. Hoboken, N.J.: John Wiley & Sons. ISBN 978-1-118-10176-6. Archived from the original on 2016-04-30. 64. ^ Mobley DP, Cappelli CC (2008). Prevention in clinical oral health care. St. Louis, Mo.: Mosby Elsevier. p. 254. ISBN 9780323036955. Archived from the original on 2017-09-06. 65. ^ Falagas ME, Betsi GI, Athanasiou S (August 2006). "Probiotics for prevention of recurrent vulvovaginal candidiasis: a review". The Journal of Antimicrobial Chemotherapy. 58 (2): 266–72. doi:10.1093/jac/dkl246. PMID 16790461. "Thus, the available evidence for the use of probiotics for prevention of recurrent VVC is limited" 66. ^ Walker, Marsha (2008). "Conquering Common Breast-feeding Problems". The Journal of Perinatal & Neonatal Nursing. 22 (4): 267–274. doi:10.1097/01.JPN.0000341356.45446.23. ISSN 0893-2190. PMID 19011490. S2CID 27801867. 67. ^ Moosa MY, Sobel JD, Elhalis H, Du W, Akins RA (January 2004). "Fungicidal activity of fluconazole against Candida albicans in a synthetic vagina-simulative medium". Antimicrobial Agents and Chemotherapy. 48 (1): 161–7. doi:10.1128/AAC.48.1.161-167.2004. PMC 310176. PMID 14693534. 68. ^ Morschhäuser J (July 2002). "The genetic basis of fluconazole resistance development in Candida albicans". Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1587 (2–3): 240–8. doi:10.1016/s0925-4439(02)00087-x. PMID 12084466. 69. ^ a b c Soong D, Einarson A (March 2009). "Vaginal yeast infections during pregnancy". Canadian Family Physician. 55 (3): 255–6. PMC 2654841. PMID 19282531. 70. ^ Felix TC, de Brito Röder DV, Dos Santos Pedroso R (March 2019). "Alternative and complementary therapies for vulvovaginal candidiasis". Folia Microbiologica. 64 (2): 133–141. doi:10.1007/s12223-018-0652-x. PMID 30269301. S2CID 52889140. 71. ^ "Systemic candidiasis". NIH.gov. U.S. DHHS, National Institute of Health. Oct 2014. Archived from the original on April 27, 2015. Retrieved April 19, 2015. 72. ^ Williams D, Lewis M (January 2011). "Pathogenesis and treatment of oral candidosis". Journal of Oral Microbiology. 3: 5771. doi:10.3402/jom.v3i0.5771. PMC 3087208. PMID 21547018. 73. ^ Bouquot BW, Neville DD, Damm CM, Allen JE (2002). Oral & maxillofacial pathology (2. ed.). Philadelphia: W.B. Saunders. pp. 189–197. ISBN 978-0-7216-9003-2. 74. ^ Lalla RV, Patton LL, Dongari-Bagtzoglou A (April 2013). "Oral candidiasis: pathogenesis, clinical presentation, diagnosis and treatment strategies". Journal of the California Dental Association. 41 (4): 263–8. PMID 23705242. 75. ^ Sobel JD (2007). "Vulvovaginal candidosis". The Lancet. 369 (9577): 1961–1971. doi:10.1016/s0140-6736(07)60917-9. ISSN 0140-6736. PMID 17560449. S2CID 33894309. 76. ^ Benedict K, Jackson BR, Chiller T, Beer KD (May 2019). "Estimation of Direct Healthcare Costs of Fungal Diseases in the United States". Clinical Infectious Diseases. 68 (11): 1791–1797. doi:10.1093/cid/ciy776. PMC 6409199. PMID 30204844. 77. ^ Gow NA (8 May 2002). "Candida albicans - a fungal Dr Jekyll and Mr Hyde" (PDF). Mycologist. 16 (1). doi:10.1017/S0269915X02006183. S2CID 86182033. 78. ^ "Candida" (PDF). CDC.gov. Center of Disease Control. Archived (PDF) from the original on April 27, 2015. Retrieved April 19, 2015. 79. ^ a b c d e Lynch DP (August 1994). "Oral candidiasis. History, classification, and clinical presentation". Oral Surgery, Oral Medicine, and Oral Pathology. 78 (2): 189–93. doi:10.1016/0030-4220(94)90146-5. PMID 7936588. 80. ^ Obladen M (2012). "Thrush - nightmare of the foundling hospitals". Neonatology. 101 (3): 159–65. doi:10.1159/000329879. PMID 22024688. S2CID 5277114. 81. ^ Scully C (2018-09-24). "Mucosal Candidiasis". Medscape. WebMD LLC. Archived from the original on 2 November 2013. Retrieved 8 September 2013. 82. ^ Greuter W, McNeill J, Burdet HM, Barrie FR (2000). International Code of Botanical Nomenclature. Königstein. ISBN 978-3-904144-22-3. Archived from the original on 2008-12-02. Retrieved 2008-11-23. 83. ^ Odds FC (1987). "Candida infections: an overview". Critical Reviews in Microbiology. 15 (1): 1–5. doi:10.3109/10408418709104444. PMID 3319417. 84. ^ a b Barrett S (October 8, 2005). "Dubious "Yeast Allergies"". Quackwatch. Archived from the original on May 13, 2008. 85. ^ a b Jarvis WT. "Candidiasis Hypersensitivity". National Council Against Health Fraud. Retrieved 18 January 2014. 86. ^ Kumamoto CA (August 2011). "Inflammation and gastrointestinal Candida colonization". Current Opinion in Microbiology. 14 (4): 386–91. doi:10.1016/j.mib.2011.07.015. PMC 3163673. PMID 21802979. 87. ^ Gerard R, Sendid B, Colombel JF, Poulain D, Jouault T (June 2015). "An immunological link between Candida albicans colonization and Crohn's disease". Critical Reviews in Microbiology. 41 (2): 135–9. doi:10.3109/1040841X.2013.810587. PMID 23855357. S2CID 39349854. 88. ^ "Growing resistance to antifungal drugs 'a global issue'". BBC News. 17 May 2018. Retrieved 18 May 2018. 89. ^ Pappas PG, Lionakis MS, Arendrup MC, Ostrosky-Zeichner L, Kullberg BJ (May 2018). "Invasive candidiasis". Nature Reviews. Disease Primers. 4: 18026. doi:10.1038/nrdp.2018.26. PMID 29749387. S2CID 12502541. ## External links[edit] Candidiasisat Wikipedia's sister projects * Definitions from Wiktionary * Media from Wikimedia Commons * Data from Wikidata * Taxonomy from Wikispecies * Candidiasis at Curlie * "Yeast Infections". MedlinePlus. U.S. National Library of Medicine. Classification D * ICD-10: B37 * ICD-9-CM: 112 * MeSH: D002177 * DiseasesDB: 1929 External resources * MedlinePlus: 001511 * eMedicine: med/264 emerg/76 ped/312 derm/67 * Patient UK: Candidiasis * v * t * e Diseases of the skin and appendages by morphology Growths Epidermal * Wart * Callus * Seborrheic keratosis * Acrochordon * Molluscum contagiosum * Actinic keratosis * Squamous-cell carcinoma * Basal-cell carcinoma * Merkel-cell carcinoma * Nevus sebaceous * Trichoepithelioma Pigmented * Freckles * Lentigo * Melasma * Nevus * Melanoma Dermal and subcutaneous * Epidermal inclusion cyst * Hemangioma * Dermatofibroma (benign fibrous histiocytoma) * Keloid * Lipoma * Neurofibroma * Xanthoma * Kaposi's sarcoma * Infantile digital fibromatosis * Granular cell tumor * Leiomyoma * Lymphangioma circumscriptum * Myxoid cyst Rashes With epidermal involvement Eczematous * Contact dermatitis * Atopic dermatitis * Seborrheic dermatitis * Stasis dermatitis * Lichen simplex chronicus * Darier's disease * Glucagonoma syndrome * Langerhans cell histiocytosis * Lichen sclerosus * Pemphigus foliaceus * Wiskott–Aldrich syndrome * Zinc deficiency Scaling * Psoriasis * Tinea (Corporis * Cruris * Pedis * Manuum * Faciei) * Pityriasis rosea * Secondary syphilis * Mycosis fungoides * Systemic lupus erythematosus * Pityriasis rubra pilaris * Parapsoriasis * Ichthyosis Blistering * Herpes simplex * Herpes zoster * Varicella * Bullous impetigo * Acute contact dermatitis * Pemphigus vulgaris * Bullous pemphigoid * Dermatitis herpetiformis * Porphyria cutanea tarda * Epidermolysis bullosa simplex Papular * Scabies * Insect bite reactions * Lichen planus * Miliaria * Keratosis pilaris * Lichen spinulosus * Transient acantholytic dermatosis * Lichen nitidus * Pityriasis lichenoides et varioliformis acuta Pustular * Acne vulgaris * Acne rosacea * Folliculitis * Impetigo * Candidiasis * Gonococcemia * Dermatophyte * Coccidioidomycosis * Subcorneal pustular dermatosis Hypopigmented * Tinea versicolor * Vitiligo * Pityriasis alba * Postinflammatory hyperpigmentation * Tuberous sclerosis * Idiopathic guttate hypomelanosis * Leprosy * Hypopigmented mycosis fungoides Without epidermal involvement Red Blanchable Erythema Generalized * Drug eruptions * Viral exanthems * Toxic erythema * Systemic lupus erythematosus Localized * Cellulitis * Abscess * Boil * Erythema nodosum * Carcinoid syndrome * Fixed drug eruption Specialized * Urticaria * Erythema (Multiforme * Migrans * Gyratum repens * Annulare centrifugum * Ab igne) Nonblanchable Purpura Macular * Thrombocytopenic purpura * Actinic/solar purpura Papular * Disseminated intravascular coagulation * Vasculitis Indurated * Scleroderma/morphea * Granuloma annulare * Lichen sclerosis et atrophicus * Necrobiosis lipoidica Miscellaneous disorders Ulcers * Hair * Telogen effluvium * Androgenic alopecia * Alopecia areata * Systemic lupus erythematosus * Tinea capitis * Loose anagen syndrome * Lichen planopilaris * Folliculitis decalvans * Acne keloidalis nuchae Nail * Onychomycosis * Psoriasis * Paronychia * Ingrown nail Mucous membrane * Aphthous stomatitis * Oral candidiasis * Lichen planus * Leukoplakia * Pemphigus vulgaris * Mucous membrane pemphigoid * Cicatricial pemphigoid * Herpesvirus * Coxsackievirus * Syphilis * Systemic histoplasmosis * Squamous-cell carcinoma * v * t * e Fungal infection and mesomycetozoea Superficial and cutaneous (dermatomycosis): Tinea = skin; Piedra (exothrix/ endothrix) = hair Ascomycota Dermatophyte (Dermatophytosis) By location * Tinea barbae/tinea capitis * Kerion * Tinea corporis * Ringworm * Dermatophytids * Tinea cruris * Tinea manuum * Tinea pedis (athlete's foot) * Tinea unguium/onychomycosis * White superficial onychomycosis * Distal subungual onychomycosis * Proximal subungual onychomycosis * Tinea corporis gladiatorum * Tinea faciei * Tinea imbricata * Tinea incognito * Favus By organism * Epidermophyton floccosum * Microsporum canis * Microsporum audouinii * Trichophyton interdigitale/mentagrophytes * Trichophyton tonsurans * Trichophyton schoenleini * Trichophyton rubrum * Trichophyton verrucosum Other * Hortaea werneckii * Tinea nigra * Piedraia hortae * Black piedra Basidiomycota * Malassezia furfur * Tinea versicolor * Pityrosporum folliculitis * Trichosporon * White piedra Subcutaneous, systemic, and opportunistic Ascomycota Dimorphic (yeast+mold) Onygenales * Coccidioides immitis/Coccidioides posadasii * Coccidioidomycosis * Disseminated coccidioidomycosis * Primary cutaneous coccidioidomycosis. Primary pulmonary coccidioidomycosis * Histoplasma capsulatum * Histoplasmosis * Primary cutaneous histoplasmosis * Primary pulmonary histoplasmosis * Progressive disseminated histoplasmosis * Histoplasma duboisii * African histoplasmosis * Lacazia loboi * Lobomycosis * Paracoccidioides brasiliensis * Paracoccidioidomycosis Other * Blastomyces dermatitidis * Blastomycosis * North American blastomycosis * South American blastomycosis * Sporothrix schenckii * Sporotrichosis * Talaromyces marneffei * Talaromycosis Yeast-like * Candida albicans * Candidiasis * Oral * Esophageal * Vulvovaginal * Chronic mucocutaneous * Antibiotic candidiasis * Candidal intertrigo * Candidal onychomycosis * Candidal paronychia * Candidid * Diaper candidiasis * Congenital cutaneous candidiasis * Perianal candidiasis * Systemic candidiasis * Erosio interdigitalis blastomycetica * C. auris * C. glabrata * C. lusitaniae * C. tropicalis * Pneumocystis jirovecii * Pneumocystosis * Pneumocystis pneumonia Mold-like * Aspergillus * Aspergillosis * Aspergilloma * Allergic bronchopulmonary aspergillosis * Primary cutaneous aspergillosis * Exophiala jeanselmei * Eumycetoma * Fonsecaea pedrosoi/Fonsecaea compacta/Phialophora verrucosa * Chromoblastomycosis * Geotrichum candidum * Geotrichosis * Pseudallescheria boydii * Allescheriasis Basidiomycota * Cryptococcus neoformans * Cryptococcosis * Trichosporon spp * Trichosporonosis Zygomycota (Zygomycosis) Mucorales (Mucormycosis) * Rhizopus oryzae * Mucor indicus * Lichtheimia corymbifera * Syncephalastrum racemosum * Apophysomyces variabilis Entomophthorales (Entomophthoramycosis) * Basidiobolus ranarum * Basidiobolomycosis * Conidiobolus coronatus/Conidiobolus incongruus * Conidiobolomycosis Microsporidia (Microsporidiosis) * Enterocytozoon bieneusi/Encephalitozoon intestinalis Mesomycetozoea * Rhinosporidium seeberi * Rhinosporidiosis Ungrouped * Alternariosis * Fungal folliculitis * Fusarium * Fusariosis * Granuloma gluteale infantum * Hyalohyphomycosis * Otomycosis * Phaeohyphomycosis Authority control * BNE: XX540703 * BNF: cb11934857m (data) * GND: 4181844-1 * LCCN: sh85019565 * NDL: 00576756 * SUDOC: 02727070X [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-aminobutyric 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	Candidiasis	c0006840	26,494	wikipedia	https://en.wikipedia.org/wiki/Candidiasis	2021-01-18T18:50:03	{"mesh": ["D002177"], "umls": ["C0006840"], "wikidata": ["Q273510"]}
Schaller et al. (1966) described an infant with these features plus marked lymphoid hypoplasia, absence of lymphoid elements and Hassall corpuscles from thymus, and plasmocytosis. She died at 6 months of age with pneumocystis carinii pneumonia. Two sibs succumbed apparently from the same ailment. GU \- Glomerulonephritis Inheritance \- Autosomal recessive Immunology \- Marked lymphoid hypoplasia \- Absent thymic lymphoid elements \- Absent thymic Hassall corpuscles \- Plasmacytosis \- Hypergammaglobulinemia \- Antibody deficiency Pulmonary \- Pneumocystis carinii pneumonia Heme \- Autoimmune hemolytic anemia \- Lymphopenia ▲ 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-aminobutyric 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	LYMPHOPENIC HYPERGAMMAGLOBULINEMIA, ANTIBODY DEFICIENCY, AUTOIMMUNE HEMOLYTIC ANEMIA, AND GLOMERULONEPHRITIS	c1855470	26,495	omim	https://www.omim.org/entry/247800	2019-09-22T16:25:45	{"mesh": ["C565427"], "omim": ["247800"]}
Fluid-filled sac in the ovary Ovarian cyst A simple ovarian cyst of most likely follicular origin SpecialtyGynecology SymptomsNone, bloating, lower abdominal pain, lower back pain[1] ComplicationsRupture, twisting of the ovary[1] TypesFollicular cyst, corpus luteum cyst, cysts due to endometriosis, dermoid cyst, cystadenoma, ovarian cancer[1] Diagnostic methodUltrasound[1] PreventionHormonal birth control[1] TreatmentConservative management, pain medication, surgery[1] PrognosisUsually good[1] Frequency8% symptomatic before menopause[1] An ovarian cyst is a fluid-filled sac within the ovary.[1] Often they cause no symptoms.[1] Occasionally they may produce bloating, lower abdominal pain, or lower back pain.[1] The majority of cysts are harmless.[1] If the cyst either breaks open or causes twisting of the ovary, it may cause severe pain.[1] This may result in vomiting or feeling faint.[1] Most ovarian cysts are related to ovulation, being either follicular cysts or corpus luteum cysts.[1] Other types include cysts due to endometriosis, dermoid cysts, and cystadenomas.[1] Many small cysts occur in both ovaries in polycystic ovary syndrome (PCOS).[1] Pelvic inflammatory disease may also result in cysts.[1] Rarely, cysts may be a form of ovarian cancer.[1] Diagnosis is undertaken by pelvic examination with an ultrasound or other testing used to gather further details.[1] Often, cysts are simply observed over time.[1] If they cause pain, medications such as paracetamol (acetaminophen) or ibuprofen may be used.[1] Hormonal birth control may be used to prevent further cysts in those who are frequently affected.[1] However, evidence does not support birth control as a treatment of current cysts.[2] If they do not go away after several months, get larger, look unusual, or cause pain, they may be removed by surgery.[1] Most women of reproductive age develop small cysts each month.[1] Large cysts that cause problems occur in about 8% of women before menopause.[1] Ovarian cysts are present in about 16% of women after menopause and if present are more likely to be cancer.[1][3] ## Contents * 1 Cyst rupture * 2 Ovarian torsion * 3 Types * 3.1 Functional * 3.2 Non-functional * 4 Diagnosis * 4.1 Ultrasound * 4.2 Scoring systems * 4.3 Associated conditions * 4.4 Risk of cancer * 4.5 Histopathology * 5 Treatment * 5.1 Pain * 5.2 Surgery * 6 Frequency * 7 References Image of multiple ovarian cysts. Some or all of the following symptoms may be present, though it is possible not to experience any symptoms:[4] * Abdominal pain. Dull aching pain within the abdomen or pelvis, especially during intercourse. * Uterine bleeding. Pain during or shortly after beginning or end of menstrual period; irregular periods, or abnormal uterine bleeding or spotting. * Fullness, heaviness, pressure, swelling, or bloating in the abdomen. * When a cyst ruptures from the ovary, there may be sudden and sharp pain in the lower abdomen on one side. * Change in frequency or ease of urination (such as inability to fully empty the bladder), or difficulty with bowel movements due to pressure on adjacent pelvic anatomy. * Constitutional symptoms such as fatigue, headaches * Nausea or vomiting * Weight gain Other symptoms may depend on the cause of the cysts:[4] * Symptoms that may occur if the cause of the cysts is polycystic ovarian syndrome (PCOS) may include increased facial hair or body hair, acne, obesity and infertility. * If the cause is endometriosis, then periods may be heavy, and intercourse painful. The effect of cysts not related to PCOS on fertility is unclear.[5] ## Cyst rupture[edit] A ruptured ovarian cyst is usually self-limiting, and only requires keeping an eye on the situation and pain medications. The main symptom is abdominal pain, which may last a few days to several weeks, but they can also be asymptomatic.[6] Rupture of large ovarian cysts can cause bleeding inside the abdominal cavity and in some cases shock.[7] ## Ovarian torsion[edit] Ovarian cysts increase the risk for ovarian torsion; cysts which are larger than 4 cm are associated with approximately 17% risk. The torsion can cause obstruction of blood flow and lead to infarction.[8] ## Types[edit] Relative incidences of different types of ovarian cysts.[9] ### Functional[edit] Functional cysts form as a normal part of the menstrual cycle. There are several types of functional cysts: * Follicular cyst, the most common type of ovarian cyst. In menstruating women, a follicle containing the ovum, an unfertilized egg, will rupture during ovulation. If this does not occur, a follicular cyst of more than 2.5 cm diameter may result.[4] * Corpus luteum cysts appear after ovulation. The corpus luteum is the remnant of the follicle after the ovum has moved to the fallopian tubes. This normally degrades within 5 to 9 days. A corpus luteum that is more than 3 cm is defined as cystic.[4] * Theca lutein cysts occur within the thecal layer of cells surrounding developing oocytes. Under the influence of excessive hCG, thecal cells may proliferate and become cystic. This is usually on both ovaries.[4] ### Non-functional[edit] Non-functional cysts may include the following:[citation needed] * An ovary with many cysts, which may be found in normal women, or within the setting of polycystic ovary syndrome * Cysts caused by endometriosis, known as chocolate cysts * Hemorrhagic ovarian cyst * Dermoid cyst * Ovarian serous cystadenoma * Ovarian mucinous cystadenoma * Paraovarian cyst * Cystic adenofibroma * Borderline tumoral cysts * Transvaginal ultrasonography of a hemorrhagic ovarian cyst, probably originating from a corpus luteum cyst. The coagulating blood gives the content a cobweb-like appearance. * Transvaginal ultrasonography showing a 67 x 40 mm endometrioma, with a somewhat grainy content. ## Diagnosis[edit] A 2 cm left ovarian cyst as seen on ultrasound Four kinds of ovarian cysts on MRI Ovarian cysts are usually diagnosed by ultrasound, CT scan, or MRI, and correlated with clinical presentation and endocrinologic tests as appropriate.[10] ### Ultrasound[edit] Follow-up imaging in women of reproductive age for incidentally discovered simple cysts on ultrasound is not needed until 5 cm, as these are usually normal ovarian follicles. Simple cysts 5 to 7 cm in premenopausal females should be followed yearly. Simple cysts larger than 7 cm require further imaging with MRI or surgical assessment. Because they are large, they cannot be reliably assessed by ultrasound alone; it can be difficult to see posterior wall soft tissue nodularity or thickened septation due to limited ultrasound beam penetrance at this size and depth. For the corpus luteum, a dominant ovulating follicle that typically appears as a cyst with circumferentially thickened walls and crenulated inner margins, follow up is not needed if the cyst is less than 3 cm in diameter. In postmenopausal patients, any simple cyst greater than 1 cm but less than 7 cm needs yearly follow-up, while those greater than 7 cm need MRI or surgical evaluation, similar to reproductive age females.[11] An Axial CT demonstrating a large hemorrhagic ovarian cyst. The cyst is delineated by the yellow bars with blood seen anteriorly. For incidentally discovered dermoids, diagnosed on ultrasound by their pathognomonic echogenic fat, either surgical removal or yearly follow up is indicated, regardless of patient age. For peritoneal inclusion cysts, which have a crumpled tissue-paper appearance and tend to follow the contour of adjacent organs, follow up is based on clinical history. Hydrosalpinx, or fallopian tube dilation, can be mistaken for an ovarian cyst due to its anechoic appearance. Follow-up for this is also based on clinical presentation.[11] For multiloculate cysts with thin septation less than 3 mm, surgical evaluation is recommended. The presence of multiloculation suggests a neoplasm, although the thin septation implies that the neoplasm is benign. For any thickened septation, nodularity, vascular flow on color doppler, or growth over several ultrasounds, surgical removal may be considered due to concern of cancer.[11] ### Scoring systems[edit] There are several systems to assess risk of an ovarian cyst of being an ovarian cancer, including the RMI (risk of malignancy index), LR2 and SR (simple rules). Sensitivities and specificities of these systems are given in tables below:[12] Scoring systems Premenopausal Postmenopausal Sensitivity Specificity Sensitivity Specificity RMI I 44% 95% 79% 90% LR2 85% 91% 94% 70% SR 93% 83% 93% 76% Ovarian cysts may be classified according to whether they are a variant of the normal menstrual cycle, referred to as a functional or follicular cyst.[4] Ovarian cysts are considered large when they are over 5 cm and giant when they are over 15 cm. In children, ovarian cysts reaching above the level of the umbilicus are considered giant. ### Associated conditions[edit] In juvenile hypothyroidism multicystic ovaries are present in about 75% of cases, while large ovarian cysts and elevated ovarian tumor marks are one of the symptoms of the Van Wyk and Grumbach syndrome.[13] The CA-125 marker in children and adolescents can be frequently elevated even in absence of malignancy and conservative management should be considered. Polycystic ovarian syndrome involves the development of multiple small cysts in both ovaries due to an elevated ratio of leutenizing hormone to follicle stimulating hormone, typically more than 25 cysts in each ovary, or an ovarian volume of greater than 10 mL.[14] Larger bilateral cysts can develop as a result of fertility treatment due to elevated levels of HCG, as can be seen with the use of clomifene for follicular induction, in extreme cases resulting in a condition known as ovarian hyperstimulation syndrome.[15] Certain malignancies can mimic the effects of clomifene on the ovaries, also due to increased HCG, in particular gestational trophoblastic disease. Ovarian hyperstimulation occurs more often with invasive moles and choriocarcinoma than complete molar pregnancies.[16] ### Risk of cancer[edit] A widely recognised method of estimating the risk of malignant ovarian cancer based on initial workup is the risk of malignancy index (RMI).[17] It is recommended that women with an RMI score over 200 should be referred to a centre with experience in ovarian cancer surgery.[18] The RMI is calculated as follows:[18] RMI = ultrasound score × menopausal score × CA-125 level in U/ml. There are two methods to determine the ultrasound score and menopausal score, with the resultant RMI being called RMI 1 and RMI 2, respectively, depending on what method is used:[18] Feature RMI 1 RMI 2 Ultrasound abnormalities: * Multilocular cyst * Solid areas * Bilateral lesions * Ascites * Intra-abdominal metastases * 0 = no abnormality * 1 = one abnormality * 3 = two or more abnormalities * 0 = none * 1 = one abnormality * 4 = two or more abnormalities Menopausal score * 1 = premenopausal * 3 = postmenopausal * 1 = premenopausal * 4 = postmenopausal CA-125 Quantity in U/ml Quantity in U/ml An RMI 2 of over 200 has been estimated to have a sensitivity of 74 to 80%, a specificity of 89 to 92% and a positive predictive value of around 80% of ovarian cancer.[18] RMI 2 is regarded as more sensitive than RMI 1.[18] ### Histopathology[edit] In case an ovarian cyst is surgically removed, a more definite diagnosis can be made by histopathology: Type Subtype Typical microscopy findings Image Functional cyst Follicular cyst * A variable inner layer of granulosa cells which are luteinized after puberty[19] * An outer layer of usually luteinized theca interna[19] Corpus luteum cyst * A convoluted cyst lining of luteinized granulosa cells[20] * A prominent inner layer of fibrous tissue[20] * An outer layer of theca cells[20] Cystadenoma Serous cystadenoma Cyst lining consisting of a simple epithelium, whose cells may be either:[21] * columnar and tall and contain cilia, resembling normal tubal epithelium * cuboidal and have no cilia, resembling ovarian surface epithelium Mucinous cystadenoma Lined by a mucinous epithelium Dermoid cyst Well-differentiated components from at least two germ layers (ectoderm, mesoderm and/or endoderm).[22] Endometriosis At least two of the following three criteria:[23] * Endometrial type stroma * Endometrial epithelium with glands * Evidence of chronic hemorrhage, mainly hemosiderin deposits Borderline tumor Atypical epithelial proliferation without stromal invasion.[24] Ovarian cancer Many different types, but generally severe dysplasia/atypia and invasion. Serous carcinoma. Simple squamous cyst Simple squamous epithelium and not conforming to diagnoses above (a diagnosis of exclusion) ## Treatment[edit] Cysts associated with hypothyroidism or other endocrine problems are managed by treating the underlying condition. About 95% of ovarian cysts are benign, not cancerous.[25] Functional cysts and hemorrhagic ovarian cysts usually resolve spontaneously.[26] However, the bigger an ovarian cyst is, the less likely it is to disappear on its own.[27] Treatment may be required if cysts persist over several months, grow, or cause increasing pain.[28] Cysts that persist beyond two or three menstrual cycles, or occur in post-menopausal women, may indicate more serious disease and should be investigated through ultrasonography and laparoscopy, especially in cases where family members have had ovarian cancer. Such cysts may require surgical biopsy. Additionally, a blood test may be taken before surgery to check for elevated CA-125, a tumour marker, which is often found in increased levels in ovarian cancer, although it can also be elevated by other conditions resulting in a large number of false positives.[29] ### Pain[edit] Pain associated with ovarian cysts may be treated in several ways: * Pain relievers such as acetaminophen, nonsteroidal anti-inflammatory drugs,[1] or opioids. * While hormonal birth control prevents the development of new cysts in those who frequently get them,[1] it is not useful for the treatment of current cysts.[2] ### Surgery[edit] Although most cases of ovarian cysts involve monitoring, some cases require surgery.[30] This may involve removing the cyst, or one or both ovaries.[31] Technique is typically laparoscopic, unless the cyst is particularly large, or if pre-operative imaging suggests malignancy or complex anatomy.[32] In certain situations, the cyst is entirely removed, while with cysts with low recurrence risk, younger patients, or which are in anatomically eloquent areas of the pelvis, they can be drained.[33][34] Features that may indicate the need for surgery include:[35] * Persistent complex ovarian cysts * Persistent cysts that are causing symptoms * Complex ovarian cysts larger than 5 cm * Simple ovarian cysts larger 10 cm or larger than 5 cm in postmenopausal patients * Women who are menopausal or perimenopausal ## Frequency[edit] Most women of reproductive age develop small cysts each month, and large cysts that cause problems occur in about 8% of women before menopause.[1] Ovarian cysts are present in about 16% of women after menopause and if present are more likely to be cancer.[1][3] Benign ovarian cysts are common in asymptomatic premenarchal girls and found in approximately 68% of ovaries of girls 2–12 years old and in 84% of ovaries of girls 0–2 years old. Most of them are smaller than 9 mm while about 10–20% are larger macrocysts. While the smaller cysts mostly disappear within 6 months the larger ones appear to be more persistent.[36][37] ## References[edit] 1. ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa ab ac ad ae "Ovarian cysts". Office on Women's Health. November 19, 2014. Archived from the original on 29 June 2015. Retrieved 27 June 2015. 2. ^ a b Grimes, DA; Jones, LB; Lopez, LM; Schulz, KF (29 April 2014). "Oral contraceptives for functional ovarian cysts". The Cochrane Database of Systematic Reviews. 4 (4): CD006134. doi:10.1002/14651858.CD006134.pub5. PMID 24782304. 3. ^ a b Mimoun, C; Fritel, X; Fauconnier, A; Deffieux, X; Dumont, A; Huchon, C (December 2013). "[Epidemiology of presumed benign ovarian tumors]". Journal de Gynécologie, Obstétrique et Biologie de la Reproduction. 42 (8): 722–9. doi:10.1016/j.jgyn.2013.09.027. PMID 24210235. 4. ^ a b c d e f Helm, William (2018-04-27). "Ovarian Cysts". Archived from the original on 7 September 2013. Retrieved 30 August 2013. Cite journal requires `\|journal=` (help) 5. ^ Legendre, G; Catala, L; Morinière, C; Lacoeuille, C; Boussion, F; Sentilhes, L; Descamps, P (March 2014). "Relationship between ovarian cysts and infertility: what surgery and when?". Fertility and Sterility. 101 (3): 608–14. doi:10.1016/j.fertnstert.2014.01.021. PMID 24559614. 6. ^ Ovarian Cyst Rupture Archived 2013-09-28 at the Wayback Machine at Medscape. Authors: Nathan Webb and David Chelmow. Updated: Nov 30, 2012 7. ^ "Ovarian cysts". womenshealth.gov. 2017-02-22. Retrieved 2020-10-29. 8. ^ "Ovarian Cysts Causes, Symptoms, Diagnosis, and Treatment". eMedicineHealth.com. Archived from the original on 2007-03-07. 9. ^ Abduljabbar, Hassan; Bukhari, Yasir; Al Hachim, Estabrq; Alshour, Ghazal; Amer, Afnan; Shaikhoon, Mohammed; Khojah, Mohammed (2015). "Review of 244 cases of ovarian cysts". Saudi Medical Journal. 36 (7): 834–838. doi:10.15537/smj.2015.7.11690. ISSN 0379-5284. PMC 4503903. PMID 26108588. 10. ^ "Ovarian cysts: MedlinePlus Medical Encyclopedia". medlineplus.gov. Retrieved 2020-10-29. 11. ^ a b c Levine, D; Brown, DL; Andreotti, RF; Benacerraf, B; Benson, CB; Brewster, WR; Coleman, B; Depriest, P; Doubilet, PM; Goldstein, SR; Hamper, UM; Hecht, JL; Horrow, M; Hur, HC; Marnach, M; Patel, MD; Platt, LD; Puscheck, E; Smith-Bindman, R (September 2010). "Management of asymptomatic ovarian and other adnexal cysts imaged at US: Society of Radiologists in Ultrasound Consensus Conference Statement". Radiology. 256 (3): 943–54. doi:10.1148/radiol.10100213. PMC 6939954. PMID 20505067. S2CID 10270209. 12. ^ Kaijser J, Sayasneh A, Van Hoorde K, Ghaem-Maghami S, Bourne T, Timmerman D, Van Calster B (2013). "Presurgical diagnosis of adnexal tumours using mathematical models and scoring systems: a systematic review and meta-analysis". Human Reproduction Update. 20 (3): 449–462. doi:10.1093/humupd/dmt059. ISSN 1355-4786. PMID 24327552. 13. ^ Durbin KL, Diaz-Montes T, Loveless MB (2011). "Van wyk and grumbach syndrome: An unusual case and review of the literature". Journal of Pediatric and Adolescent Gynecology. 24 (4): e93–6. doi:10.1016/j.jpag.2010.08.003. PMID 21600802. 14. ^ Dewailly, D; Lujan, ME; Carmina, E; Cedars, MI; Laven, J; Norman, RJ; Escobar-Morreale, HF (May 2014). "Definition and significance of polycystic ovarian morphology: a task force report from the Androgen Excess and Polycystic Ovary Syndrome Society". Human Reproduction Update. 20 (3): 334–52. doi:10.1093/humupd/dmt061. PMID 24345633. 15. ^ Altinkaya, SO; Talas, BB; Gungor, T; Gulerman, C (October 2009). "Treatment of clomiphene citrate-related ovarian cysts in a prospective randomized study. A single center experience". The Journal of Obstetrics and Gynaecology Research. 35 (5): 940–5. doi:10.1111/j.1447-0756.2009.01041.x. PMID 20149045. S2CID 36836406. 16. ^ Suzuki, H; Matsubara, S; Uchida, S; Ohkuchi, A (October 2014). "Ovary hyperstimulation syndrome accompanying molar pregnancy: case report and review of the literature". Archives of Gynecology and Obstetrics. 290 (4): 803–6. doi:10.1007/s00404-014-3319-0. PMID 24966119. S2CID 27120087. 17. ^ NICE clinical guidelines Issued: April 2011. Guideline CG122. Ovarian cancer: The recognition and initial management of ovarian cancer Archived 2013-09-22 at the Wayback Machine, Appendix D: Risk of malignancy index (RMI I). 18. ^ a b c d e Network, Scottish Intercollegiate Guidelines (2003). "EPITHELIAL OVARIAN CANCER SECTION 3: DIAGNOSIS". Epithelial ovarian cancer : a national clinical guideline. Edinburgh: SIGN. ISBN 978-1899893935. Archived from the original on 2013-09-22. 19. ^ a b Mohiedean Ghofrani. "Ovary - nontumor - Nonneoplastic cysts / other - Follicular cysts". Pathology Outlines. Topic Completed: 1 August 2011. Revised: 5 March 2020 20. ^ a b c Aurelia Busca, Carlos Parra-Herran. "Ovary - nontumor - Nonneoplastic cysts / other - Corpus luteum cyst (CLC)". Pathology Outlines. Topic Completed: 1 November 2016. Revised: 5 March 2020 21. ^ Shahrzad Ehdaivand, M.D. "Ovary tumor - serous tumors - Serous cystadenoma / adenofibroma / surface papilloma". Pathology Outlines. Topic Completed: 1 June 2012. Revised: 5 March 2020 22. ^ Sahin, Hilal; Abdullazade, Samir; Sanci, Muzaffer (2017). "Mature cystic teratoma of the ovary: a cutting edge overview on imaging features". Insights into Imaging. 8 (2): 227–241. doi:10.1007/s13244-016-0539-9. ISSN 1869-4101. PMC 5359144. PMID 28105559. 23. ^ Aurelia Busca, Carlos Parra-Herran. "Ovary - nontumor - Nonneoplastic cysts / other - Endometriosis". Pathology Outlines. Topic Completed: 1 August 2017. Revised: 5 March 2020 24. ^ Lee-may Chen, MDJonathan S Berek, MD, MMS. "Borderline ovarian tumors". UpToDate.CS1 maint: multiple names: authors list (link) This topic last updated: Feb 08, 2019. 25. ^ "Symptoms of ovarian cysts". 2017-10-23. Archived from the original on 2009-05-12. Retrieved 2009-05-06. 26. ^ V.T. (14 May 2014). Understanding Ovarian Cyst. V.T. pp. 25–. GGKEY:JTX84XQARW9. Archived from the original on 16 March 2015. 27. ^ Edward I. Bluth (2000). Ultrasound: A Practical Approach to Clinical Problems. Thieme. p. 190. ISBN 978-0-86577-861-0. Archived from the original on 2017-03-12. 28. ^ Susan A. Orshan (2008). Maternity, Newborn, and Women's Health Nursing: Comprehensive Care Across the Lifespan. Lippincott Williams & Wilkins. pp. 161. ISBN 978-0-7817-4254-2. 29. ^ MedlinePlus Encyclopedia: CA-125 30. ^ Tamparo, Carol; Lewis, Marcia (2011). Diseases of the Human Body. Philadelphia, PA: Library of Congress. p. 475. ISBN 978-0-8036-2505-1. 31. ^ "HealthHints: Gynecologic Health (January/February, 2003)". Texas AgriLife Extension Service: HealthHints. Archived from the original on 2007-02-17. 32. ^ Surgit, O; Inegol Gumus, I (2014). "Single-port Laparoscopic Total Hysterectomy and Bilateral Salpingo-oopherectomy Combined with Burch Colposuspension". Acta Chirurgica Belgica. 114 (4): 0. doi:10.1080/00015458.2014.11681025. PMID 26021429. S2CID 29262228. 33. ^ Cho, MJ; Kim, DY; Kim, SC (October 2015). "Ovarian Cyst Aspiration in the Neonate: Minimally Invasive Surgery". Journal of Pediatric and Adolescent Gynecology. 28 (5): 348–53. doi:10.1016/j.jpag.2014.10.003. PMID 26148782. 34. ^ Nohuz, E (11 December 2015). "[How I do...the aspiration of an adnexal cyst without iterative needle punctures neither irrigation-aspiration device during a laparoscopy]". Gynécologie, Obstétrique & Fertilité. 44 (1): 63–6. doi:10.1016/j.gyobfe.2015.11.001. PMID 26701109. 35. ^ Ovarian cysts Archived 2013-10-02 at the Wayback Machine from MedlinePlus. Update Date: 2/26/2012. Updated by: Linda J. Vorvick and Susan Storck. Also reviewed by David Zieve 36. ^ Cohen HL, Eisenberg P, Mandel F, Haller JO (1992). "Ovarian cysts are common in premenarchal girls: A sonographic study of 101 children 2-12 years old". AJR. American Journal of Roentgenology. 159 (1): 89–91. doi:10.2214/ajr.159.1.1609728. PMID 1609728. 37. ^ Qublan HS, Abdel-hadi J (2000). "Simple ovarian cysts: Frequency and outcome in girls aged 2-9 years". Clinical and Experimental Obstetrics & Gynecology. 27 (1): 51–3. PMID 10758801. Classification D * ICD-10: N83.0-N83.2 * ICD-9-CM: 620.0-620.2 * MeSH: D010048 * DiseasesDB: 9433 External resources * MedlinePlus: 001504 * eMedicine: med/1699 emerg/352 [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-aminobutyric 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	Ovarian cyst	c0029513	26,496	wikipedia	https://en.wikipedia.org/wiki/Ovarian_cyst	2021-01-18T18:42:37	{"mesh": ["D010048"], "umls": ["C0029513"], "wikidata": ["Q147362"]}
## Description The classification for headache disorders of the International Headache Society (1988) listed the following criteria for cluster headache (CH): at least 5 attacks of severe unilateral orbital, supraorbital, and/or temporal pain, lasting 15 to 180 minutes, associated with at least 1 of 8 local autonomic signs, and occurring once every other day to 8 per day. Approximately 85% of CH patients have the episodic subtype, in which the headaches occur in cluster periods lasting from 7 days to 1 year and separated by attack-free intervals of 1 month or more. The remainder of patients have the chronic subtype, in which attacks recur for greater than 1 year without remission or with remissions lasting less than 1 month (Lipton et al., 2004). Clinical Features Spierings and Vincent (1992) described 3 males, an 8-year-old boy, his father, and his paternal grandfather, with seemingly typical cluster headaches. The headaches responded to oxygen inhalation and to treatment with verapamil but were not prevented by propranolol and amitriptyline, which are effective medications in migraine. The 8-year-old boy suffered from headaches from the age of 4 years. He had pain in the right eye occurring 3 times a week, usually between 12:30 and 1:00 p.m., and lasting 30 to 60 minutes. His father had onset at 37 years of age, with headaches located around and behind the right eye lasting 30 to 90 minutes. They were associated with tearing of that eye and running of the right nostril. The paternal grandfather had had 3 episodes of headache, each occurring daily for 4 to 7 weeks, when he was 51, 58, and 67 years of age. They were located in the left eye and were associated with tearing of that eye and running of the left nostril. Schuh-Hofer et al. (2003) reported monozygotic twin sisters with cluster headache. Symptoms began at ages 24 and 31 years, and consisted of severe attacks located behind the left eye and radiating to the left mandible. In addition, both sisters had migraine without aura since childhood. Their mother and a child of each sister had migraine without aura. Inheritance Russell et al. (1995) investigated the mode of inheritance of cluster headache in 370 families in Denmark. Of the 370 probands, 25 had 36 relatives with cluster headache. The segregation analysis suggested to the authors that cluster headache has an autosomal dominant gene with a penetrance of 0.3. to 0.34 in males and 0.17 to 0.21 in females. The gene was thought to be present in 3 to 4% of males and 7 to 10% of females with cluster headache. Among 220 Italian patients with cluster headache, Leone et al. (2001) found a positive family history in 44 families (20%), strongly supporting a genetic component. Compared with the general population, first-degree relatives had a 39-fold increased risk of cluster headache, and second-degree relatives had an 8-fold increased risk. De Simone et al. (2003) reported a pedigree of 4 related families from southern Italy in which 8 members over 2 generations were affected with cluster headache. Two of the 4 families were linked by a double marriage (2 sibs of 1 family married 2 sibs of another family). The overall prevalence of cluster headache in the 127 living family members was 6.29%, 91-fold higher than expected in the general population. De Simone et al. (2003) postulated autosomal recessive inheritance. Molecular Genetics Rainero et al. (2004) found an association between a 1246G-A polymorphism (rs2653349) in the HCRTR2 gene (602393) and cluster headache. The frequency of the G allele was 0.96 and 0.87 among 109 patients with cluster headache and 211 controls, respectively. Homozygosity for the G allele conferred a 5-fold increased risk for the disorder, compared to G/A and A/A. Rainero et al. (2004) noted that the hypocretin system modulates neuroendocrine functions and is involved in narcolepsy (161400). Alternatively, the association may represent a nearby locus on chromosome 6 in linkage disequilibrium with cluster headache. Among 226 German patients with cluster headaches and 266 German controls, Schurks et al. (2006) found a significant association between cluster headache and the 1246G-A polymorphism in the HCRTR2 gene. The frequency of the G allele was 0.87 and 0.80 in patients and controls, respectively. Homozygous carriers of the 1246G allele had a 2-fold increased risk for cluster headache. In contrast, Baumber et al. (2006) found no association between cluster headache and the HCRTR2 gene in a cohort of 259 patients originating from Northern Europe. Linkage analysis of families and direct examination of polymorphisms (rs3122169 and rs2653349) in the HCRTR2 gene both failed to support an association. INHERITANCE \- Autosomal dominant HEAD & NECK Face \- Facial sweating ipsilateral \- Forehead sweating, ipsilateral Eyes \- Eyelid edema, ipsilateral \- Conjunctival injection, ipsilateral \- Lacrimation, ipsilateral \- Miosis, ipsilateral \- Ptosis, ipsilateral RESPIRATORY Nasopharynx \- Nasal congestion, ipsilateral \- Rhinorrhea, ipsilateral NEUROLOGIC Central Nervous System \- Headaches, severe, unilateral \- Pain (sharp, boring, drilling, piercing) \- Episodic subtype, headaches occur in clusters \- Chronic subtype, headaches occur without remission for 1 year Behavioral Psychiatric Manifestations \- Agitation \- Restlessness \- Exhaustion MISCELLANEOUS \- Onset 10-20 years of age \- Autosomal recessive inheritance has been suggested \- Two subtypes, episodic (85% of patients) and chronic (15%) \- Autonomic symptoms occur with headaches ▲ 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-aminobutyric 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	CLUSTER HEADACHE, FAMILIAL	c1861513	26,497	omim	https://www.omim.org/entry/119915	2019-09-22T16:43:07	{"mesh": ["C566117"], "omim": ["119915"]}
A rare, genetic form of obesity characterized by severe early-onset obesity, hyperphagia, and variable presence of cognitive impairment and behavioral disorder, including autistic spectrum behavior, impaired concentration and memory deficit. Some patients present with Prader-Willi-like features such as hypotonia, developmental delay, intellectual disability, short stature, hypopituitarism and dysmorphic facial features. [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-aminobutyric 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	Obesity due to SIM1 deficiency	None	26,498	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=369873	2021-01-23T18:28:03	{"icd-10": ["E66.8"]}
A distinct form of duodenal atresia in which the head of the pancreas forms a ring around the second portion of the duodenum. ## Epidemiology The annual incidence is estimated at around 1/50,000 births, representing 10% of all cases of duodenal stenosis. ## Clinical description During the neonatal period, the clinical picture is dominated by epigastric distension with vomiting, which is nonbilious as the obstruction is usually supra-vaterian (above the junction of the biliary ducts). As in other forms of duodenal atresia, malformations of the cranial intestine are also frequently present in patients with annular pancreas. Cardiac anomalies may also be present and are more frequent in the context of notochord induction anomalies or deficiency. Chromosomal abnormalities are present in one-third of cases of annular pancreas, with trisomy 21 (followed by trisomy 18 and 13; see these terms) being the most frequently detected anomaly. ## Etiology Annular pancreas is an embryopathy resulting from an anomaly occurring early (towards the fourth week) in development. It is a distinct form of duodenal atresia, rather than a pancreatic anomaly, and should not be confused with other congenital malformations of the pancreas or pancreaticobiliary ducts (such as anomalies of the pancreaticobiliary junction) for which the diagnosis cannot be made until childhood or adulthood. ## Diagnostic methods Diagnosis of annular pancreas is often made before birth through ultrasound findings showing duodenal dilation and through difficulties in observing peri-duodenal pancreatic development. In cases where the diagnosis is not made prenatally, it is made in the neonatal period on the basis of the clinical picture and imagining studies (abdominal radiography and ultrasound). ## Differential diagnosis The differential diagnosis should include other forms of duodenal stenosis. ## Antenatal diagnosis Prenatal diagnosis allows management to be planned in a specialized center immediately after birth. ## Management and treatment Investigations using a gastric tube allow drainage of the digestive tract prior to the site of obstruction. Treatment is surgical and is performed in the neonatal period. ## Prognosis The prognosis for annular pancreas is very favorable, but the overall prognosis depends on the presence of associated malformations. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-aminobutyric 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	Annular pancreas	c0149955	26,499	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=675	2021-01-23T17:32:57	{"gard": ["705"], "mesh": ["C536376"], "omim": ["167750"], "umls": ["C0149955"], "icd-10": ["Q45.1"]}

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