{"orpha":3459,"name":"Wilson-Turner syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["WTS","X-linked intellectual disability-gynecomastia-obesity syndrome"],"definition":"Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3459/","orphanet_url":"https://www.orpha.net/en/disease/detail/3459","names":{"fr":{"name":"Syndrome de Wilson-Turner","synonyms":["Syndrome de déficience intellectuelle liée à l'X-gynécomastie-obésité","WTS"],"definition":"Maladie génétique multisystémique rare liée à l'X, caractérisée par une déficience intellectuelle, une obésité tronculaire, une gynécomastie, un hypogonadisme, une dysmorphie faciale et une petite taille."},"de":{"name":"Wilson-Turner-Syndrom","synonyms":["WTS","X-chromosomale Intelligenzminderung-Gynäkomastie-Adipositas-Syndrom"]},"es":{"name":"Síndrome de Wilson-Turner","synonyms":["Síndrome de discapacidad intelectual-ginecomastia-obesidad ligado al cromosoma X","WTS"],"definition":"El síndrome de Wilson-Turner es una enfermedad genética multisistémica muy poco frecuente ligada al cromosoma X que se caracteriza por discapacidad intelectual, obesidad troncal, ginecomastia, hipogonadismo, rasgos faciales dismórficos y estatura baja."},"it":{"name":"Sindrome di Wilson-Turner","synonyms":["Sindrome disabilità cognitiva legata all'X-ginecomastia-obesità","WTS"],"definition":"La sindrome di Wilson-Turner (WTS) è una malattia genetica multisistemica legata all'X molto rara, caratterizzata da disabilità intellettiva, obesità del tronco, ginecomastia, ipogonadismo, dimorfismi facciali e bassa statura."},"nl":{"name":"Syndroom van Wilson-Turner","synonyms":["WTS","X-gebonden intellectuele achterstand - gynaecomastie - obesitas-syndroom"],"definition":"Syndroom van Wilson-Turner (WTS) is een zeer zeldzame X-gebonden multisystemische genetische ziekte die gekarakteriseerd wordt door intellectuele achterstand, rompobesitas, gynaecomastie, hypogonadisme, dysmorfe gezichtskenmerken en een kleine gestalte."},"pt":{"name":"Síndrome Wilson-Turner","synonyms":["Síndrome de perturbação do desenvolvimento intelectual-ginecomastia-obesidade ligada ao X","WTS"]},"pl":{"name":"Zespół Wilsona i Turnera","synonyms":["Niepełnosprawność intelektualna sprzężona z chromosomem X - ginekomastia - otyłość","WTS"]},"cs":{"name":"Wilsonův-Turnerův syndrom","synonyms":["WTS","X-vázaný syndrom zahrnující mentální retardaci, gynekomastii a obezitu","Wilson-Turnerův syndrom"]},"uk":{"name":"Синдром Вільсона-Тернера","synonyms":["WTS","Х-зчеплений синдром інтелектуальної недостатності-гінекомастії-ожиріння"],"definition":"Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature."},"zh":{"name":"Wilson-Turner综合征","synonyms":["X-连锁智力障碍-男子乳腺发育-肥胖综合征"]},"tr":{"name":"Wilson-Turner sendromu","synonyms":["WTS","X'e bağlı zihinsel yetersizlik-jinekomasti-obezite sendromu"]}},"xrefs":[{"source":"OMIM","code":"309585","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD29","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2015561482"},{"source":"MONDO","code":"0010665","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536708","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1839736","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5579","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":240371,"name":"Syndromic obesity","classifications":[147,156,193]}],"children":[],"genes":[{"symbol":"HDAC8","name":"histone deacetylase 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22889856[PMID]","hgnc":"13315","ensembl":"ENSG00000147099","omim":"300269","loci":["Xq13.1"]},{"symbol":"LAS1L","name":"LAS1 like ribosome biogenesis factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25644381[PMID]","hgnc":"25726","ensembl":"ENSG00000001497","omim":"300964","loci":["Xq12"]}],"genes_via_subtypes":[],"inheritance":["X-linked dominant","X-linked recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":28.0,"area":"Worldwide","status":"Validated","source":"1746601[PMID]_22889856[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1746601[PMID]_22889856[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-09-20","source":"1746601[PMID]_758423[PMID]_1481864[PMID]_25644381[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000712","label":"Emotional lability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000771","label":"Gynecomastia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010620","label":"Malar prominence","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000336","label":"Prominent supraorbital ridges","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200055","label":"Small hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001956","label":"Truncal obesity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000044","label":"Hypogonadotropic hypogonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000540","label":"Hypermetropia","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0009909","label":"Uplifted earlobe","frequency":"Excluded (0%)","criteria":null}]}}