{"orpha":2222,"name":"Hypertrichosis lanuginosa congenita","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hypertrichosis universalis"],"definition":"Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2222/","orphanet_url":"https://www.orpha.net/en/disease/detail/2222","names":{"fr":{"name":"Hypertrichose congénitale lanugineuse","synonyms":["Hypertrichose universelle"],"definition":"L'hypertrichose congénitale lanugineuse est une maladie cutanée congénitale rare caractérisée par la présence de poils de type lanugo de 3 à 5 cm de long sur la totalité du corps, à l'exception des paumes, des plantes et des membranes muqueuses."},"de":{"name":"Hypertrichosis lanuginosa, kongenitale","synonyms":["Hypertrichosis universalis"],"definition":"Die Hypertrichosis lanuginosa congenita ist eine seltene angeborene Hautkrankheit mit 3-5 cm langen Lanugo-Haaren am gesamten Körper, außer an den Handflächen und Fußsohlen und Schleimhäuten."},"es":{"name":"Hipertricosis lanuginosa congénita","definition":"La hipertricosis lanuginosa congénita es una enfermedad congénita de la piel poco frecuente que se caracteriza por la presencia de pelo tipo lanugo de 3 a 5 cm. de largo en todo el cuerpo, excepto en las palmas, las plantas y las membranas mucosas."},"it":{"name":"Ipertricosi lanuginosa congenita","synonyms":["Ipertricosi universale"],"definition":"L'ipertricosi lanuginosa congenita è una malattia congenita rara della cute, caratterizzata dalla presenza di peli lanuginosi lunghi 3-5 cm su tutto il corpo, ad eccezione dei palmi delle mani, delle piante dei piedi e delle mucose."},"nl":{"name":"Hypertrichosis lanuginosa congenita","synonyms":["Hypertrichosis universalis"],"definition":"Een zeldzame congenitale aandoening van huid, gekenmerkt door aanwezigheid van 3 tot 5 cm lange lanugo-type haar over het gehele lichaam, met uitzondering van handpalmen, voetzolen, en slijmvliezen."},"pt":{"name":"Hipertricose lanuginosa congénita","synonyms":["Hipertricose universal"]},"pl":{"name":"Wrodzona hipertrichoza płodowa","synonyms":["Hypertrichosis universalis"]},"cs":{"name":"Vrozená lanuginózní hypertrichóza","synonyms":["Hypertrichosis universalis"]},"uk":{"name":"Вроджений пушковий гіпертрихоз","synonyms":["Універсальний гіпертрихоз"],"definition":"Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes."},"zh":{"name":"先天性多毛柔毛症","synonyms":["全身性多毛症"]},"tr":{"name":"Hipertrikoz lanuginosa konjenita","synonyms":["Universal hipertrikoz"]}},"xrefs":[{"source":"OMIM","code":"145700","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"145701","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"307150","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q84.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"199539869"},{"source":"MONDO","code":"0016381","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538389","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0235864","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2865","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":79365,"name":"Rare disorder with hypertrichosis","classifications":[156,187]}],"children":[{"orpha":1023,"name":"Congenital generalized hypertrichosis, Ambras type","type":"Clinical subtype"},{"orpha":79495,"name":"X-linked congenital generalized hypertrichosis","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"SOX3","name":"SRY-box transcription factor 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21636067[PMID]","hgnc":"11199","ensembl":"ENSG00000134595","omim":"313430","loci":["Xq27.1"],"via":{"orpha":79495,"name":"X-linked congenital generalized hypertrichosis"}}],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002230","label":"Generalized hirsutism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001000","label":"Abnormality of skin pigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000212","label":"Gingival overgrowth","frequency":"Occasional (29-5%)","criteria":null}]}}