{"orpha":85295,"name":"HSD10 disease, atypical type","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["HSD10 deficiency, atypical type","Syndromic X-linked intellectual disability type 10","X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome"],"definition":null,"note":"This disease is described under HSD10 disease","url":"https://raremap.alftech.space/d/ORPHA-85295/","orphanet_url":"https://www.orpha.net/en/disease/detail/85295","names":{"fr":{"name":"Maladie HSD10 type atypique","synonyms":["Déficience intellectuelle liée à l'X syndromique type 10","Déficit en HSD10 atypique","Syndrome de déficience intellectuelle liée à l'X-choréoathétose-comportement anormal"]},"de":{"name":"HSD10-Krankheit, atypische Form","synonyms":["HSD10-Defizienz, atypische","HSD17B10-Defizienz","Syndromale Intelligenzminderung mit Choreoathetose und Verhaltensstörung","X-chromosomale syndromale Intelligenzminderung Typ 10"]},"es":{"name":"Enfermedad HSD10 tipo atípico","synonyms":["Deficiencia de HSD10 tipo atípico","Discapacidad intelectual sindrómica ligada al cromosoma X tipo 10","Síndrome de discapacidad intelectual-coreoatetosis-trastorno de conducta ligado al cromosoma X"]},"it":{"name":"Malattia HSD10, forma atipica","synonyms":["Deficit di HSD10, forma atipica","Disabilità intellettiva sindromica legata all'X, tipo 10","Sindrome disabilità intellettiva legata all'X - coreatetosi - disturbi del comportamento","Sindrome disabilità intellettiva legata all'X-coreatetosi-disturbi del comportamento"]},"nl":{"name":"HSD10-ziekte, atypisch type","synonyms":["HSD10-deficiëntie, atypisch type","Syndromale X-gebonden intellectuele achterstand type 10","X-gebonden intellectuele achterstand - choreoathetose - abnormaal gedrag-syndroom"]},"pt":{"name":"Doença HSD10, forma atípica","synonyms":["Deficiência de HSD10, forma atípica","Perturbação do desenvolvimento intelectual sindromática ligada ao X tipo 10","Síndrome de perturbação do desenvolvimento intelectual-coreoatetose-alterações do comportamento ligada ao X"]},"pl":{"name":"Choroba HSD10, typ atypowy","synonyms":["Niedobór HSD10, typ atypowy","Niepełnosprawność intelektualna sprzężona z chromosomem X - choreoatetoza - nienormalne zachowanie","Syndromiczna niepełnosprawność intelektualna sprzężona z chromosomem X typu 10"]},"cs":{"name":"HSD10 nemoc, atypický typ","synonyms":["HSD10 deficit, atypický typ","Syndromická X-vázaná mentální retardace, typ 10","X-vázaný syndrom zahrnující mentální retardaci, choreoatetózu a abnormální chování"]},"uk":{"name":"Хвороба HSD10, атиповий тип","synonyms":["Дефіцит HSD10, атиповий тип","Синдромальна Х-зчеплена розумова відсталість, тип 10","Х-зчеплений синдром розумової відсталості - хореоатетозу - аномальної поведінки"]},"zh":{"name":"非典型17β-羟类固醇脱氢酶10缺陷症","synonyms":["X连锁智力障碍-舞蹈手足徐动-行为异常综合征"]},"tr":{"name":"HSD10 hastalığı, atipik tip","synonyms":["HSD10 eksikliği, atipik tip","Sendromik X'e bağlı zihinsel yetersizlik türü 10","X'e bağlı zihinsel yetersizlik-koreoatetoz-anormal davranış sendromu"]}},"xrefs":[{"source":"OMIM","code":"300438","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G25.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C52.01","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0037149","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680206","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":391417,"name":"HSD10 disease","classifications":[150,156,181]}],"children":[],"genes":[{"symbol":"HSD17B10","name":"hydroxysteroid 17-beta dehydrogenase 10","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22127393[PMID]","hgnc":"4800","ensembl":"ENSG00000072506","omim":"300256","loci":["Xp11.22"]}],"genes_via_subtypes":[],"inheritance":["X-linked dominant"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"27306202[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_ 27306202[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null}]}}