{"orpha":3464,"name":"Woodhouse-Sakati syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Diabetes-hypogonadism-deafness-intellectual disability syndrome","Diabetes-hypogonadism-hearing loss-intellectual disability syndrome"],"definition":"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3464/","orphanet_url":"https://www.orpha.net/en/disease/detail/3464","names":{"fr":{"name":"Syndrome de Woodhouse-Sakati","synonyms":["Syndrome de diabète-hypogonadisme-surdité-déficience intellectuelle"],"definition":"Le syndrome de Woodhouse-Sakati est un syndrome multisystémique caractérisé par un hypogonadisme, une alopécie, un diabète sucré, un déficit intellectuel et des signes extrapyramidaux caracterisés par des mouvements choréo-athétoïdes et une dystonie."},"de":{"name":"Woodhouse-Sakati-Syndrom","synonyms":["Diabetes-Hypogonadismus-Taubheit-Intelligenzminderung-Syndrom"],"definition":"Das Woodhouse-Sakati-Syndrom ist eine multisystemische Erkrankung mit Hypogonadismus, Alopezie, Diabetes mellitus, intellektuellem Defizit, extrapyramidalen Zeichen, choreoathetotischen Bewegungen und Dystonie."},"es":{"name":"Síndrome de Woodhouse-Sakati","synonyms":["Síndrome de diabetes-hipogonadismo-hipoacusia-discapacidad intelectual","Síndrome de diabetes-hipogonadismo-sordera-discapacidad intelectual"],"definition":"Es un trastorno multisistémico caracterizado por hipogonadismo, alopecia, diabetes mellitus, déficit intelectual y signos extrapiramidales con movimientos coreoatetoides y distonía."},"it":{"name":"Sindrome di Woodhouse-Sakati","synonyms":["Sindrome diabete-ipogonadismo-sordità-disabilità intellettiva","Diabete - ipogonadismo - sordità - ritardo mentale"]},"nl":{"name":"Syndroom van Woodhouse-Sakati","synonyms":["Diabetes - hypogonadisme - doofheid - intellectuele achterstand-syndroom","Diabetes - hypogonadisme - gehoorverlies - intellectuele achterstand-syndroom"],"definition":"Een multisystemische aandoening, gekenmerkt door hypogonadisme, alopecie, diabetes mellitus, intellectuele achterstand, en extrapiramidale verschijnselen met choreoathetose-achtige bewegingen en dystonie."},"pt":{"name":"Síndrome Woodhouse-Sakati","synonyms":["Síndrome de diabetes-hipogonadismo-perda auditiva-perturbação do desenvolvimento intelectual","Síndrome de diabetes-hipogonadismo-surdez-perturbação do desenvolvimento intelectual"],"definition":"A síndrome de Woodhouse-Sakati é uma doença multissistémica caracterizada por hipogonadismo, alopécia, diabetes mellitus, atraso mental e sinais extrapiramidais com movimentos coreoatetóides e distonia."},"pl":{"name":"Zespół Woodhouse'a i Sakati","synonyms":["Cukrzyca - hipogonadyzm - głuchota - niepełnosprawność intelektualna"]},"cs":{"name":"Woodhouseův-Sakatiův syndrom","synonyms":["Syndrom zahrnující diabetes, hypogonadismus, hluchotu a mentální retardaci","Woodhouse-Sakatiův syndrom"]},"uk":{"name":"Синдром Вудхауза-Сакаті","synonyms":["Синдром діабету-гіпогонадизму-глухоти-інтелектуальної недостатності","Синдром діабету-гіпогонадизму-втрати слуху- інтелектуальної недостатності"],"definition":"Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia."},"zh":{"name":"Woodhouse-Sakati综合征","synonyms":["糖尿病-性腺功能减退-听力丧失-智力障碍综合征"]},"tr":{"name":"Woodhouse-Sakati sendromu","synonyms":["Diyabet-hipogonadizm-sağırlık-zihinsel yetersizlik sendromu","Diyabet-hipogonadizm-işitme kaybı-zihinsel yetersizlik sendromu"]}},"xrefs":[{"source":"OMIM","code":"241080","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G23.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A61.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1893572805"},{"source":"MONDO","code":"0009419","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536742","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0342286","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5592","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10082379","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":1011,"name":"Alopecia-hypogonadism-extrapyramidal syndrome","status":"inactive"},{"type":"Moved to","orpha":2676,"name":"Neuroectodermal-endocrine syndrome","status":"inactive"}],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":385,"name":"Neurodegeneration with brain iron accumulation","classifications":[156,181]},{"orpha":181381,"name":"Other rare diabetes mellitus","classifications":[193]},{"orpha":370106,"name":"Rare disorder with dystonia and other neurologic or systemic manifestation","classifications":[156,181]},{"orpha":181441,"name":"Rare disorder with hypergonadotropic hypogonadism","classifications":[156,193,201]},{"orpha":181387,"name":"Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism","classifications":[156,193,201,205]},{"orpha":183625,"name":"Rare genetic diabetes mellitus","classifications":[156]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"DCAF17","name":"DDB1 and CUL4 associated factor 17","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29574468[PMID]","hgnc":"25784","ensembl":"ENSG00000115827","omim":"612515","loci":["2q31.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":25.0,"area":"Worldwide","status":"Validated","source":"18175354[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_18175354[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-12-12","source":"6876115[PMID]_8779325[PMID]_17167799[PMID]_19026396[PMID]_20507343[PMID]_1442893[PMID]","terms":[{"hpo":"HP:0005135","label":"Abnormal T-wave","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008669","label":"Abnormal spermatogenesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100840","label":"Aplasia/Hypoplasia of the eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008619","label":"Bilateral sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001266","label":"Choreoathetosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000824","label":"Decreased response to growth hormone stimulation test","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008214","label":"Decreased serum estradiol","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040171","label":"Decreased serum testosterone concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000842","label":"Hyperinsulinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003077","label":"Hyperlipidemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008697","label":"Hypoplasia of the fallopian tube","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000013","label":"Hypoplasia of the uterus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000831","label":"Insulin-resistant diabetes mellitus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008209","label":"Premature ovarian insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010464","label":"Streak ovary","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000674","label":"Anodontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000738","label":"Hallucinations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000448","label":"Prominent nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000709","label":"Psychosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040189","label":"Scaling skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Occasional (29-5%)","criteria":null}]}}