{"orpha":444,"name":"Marie Unna hereditary hypotrichosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hypotrichosis, Marie Unna type","MUHH","Marie Unna congenital hypotrichosis"],"definition":"A rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-444/","orphanet_url":"https://www.orpha.net/en/disease/detail/444","names":{"fr":{"name":"Hypotrichose héréditaire de Marie Unna","synonyms":["Hypotrichose congénitale de Marie Unna","Hypotrichose type Marie Unna","MUHH"],"definition":"Anomalie autosomique dominante rare des cheveux caractérisée par un cuir chevelu, des sourcils et des cils clairsemés ou absents à la naissance, des cheveux grossiers et rêches pendant l'enfance et une alopécie progressive commençant à la puberté."},"de":{"name":"Hypotrichose, hereditäre, Typ Marie Unna","synonyms":["Hypotrichose Typ Marie Unna","MUHH","Marie Unna kongenitale Hypotrichose"],"definition":"Eine seltene autosomal-dominante Form des Haarverlustes, die sich durch das Fehlen oder den Mangel an Kopfhaar, Augenbrauen und Wimpern bei der Geburt, grobes und drahtiges Haar in der Kindheit und fortschreitenden Haarausfall ab der Pubertät auszeichnet."},"es":{"name":"Hipotricosis hereditaria de Marie Unna","synonyms":["Hipotricosis congénita de Marie Unna","Hipotricosis tipo Marie Unna","MUHH"],"definition":"Es un trastorno autosómico dominante poco frecuente de pérdida de pelo caracterizado por la ausencia o escasez de pelo en el cuero cabelludo, las cejas y las pestañas al nacer; pelo grueso y encrespado durante la infancia; y pérdida progresiva de pelo que comienza alrededor de la pubertad."},"it":{"name":"Ipotricosi ereditaria di Marie Unna","synonyms":["Ipotricosi congenita di Marie Unna","Ipotricosi, tipo Marie Unna","MUHH"],"definition":"L'ipotricosi ereditaria di Marie Unna (MUHH) è una malattia rara autosomica dominante con perdita dei capelli, caratterizzata dall'assenza o dalla rarefazione alla nascita dei capelli, delle sopracciglia e delle ciglia; da capelli grossolani e a \"filo di ferro\" nell'infanzia; e dalla progressiva perdita dei capelli a partire dalla pubertà."},"nl":{"name":"Erfelijke hypotrichose, Marie Unna-type","synonyms":["Congenitale hypotrichose van Marie Unna","Hypotrichose, Marie Unna-type","MUHH"],"definition":"Een zeldzame, autosomaal dominante alopecie, gekarakteriseerd door afwezigheid of schaarsheid van haar van scalp, wenkbrauwen en wimpers bij de geboorte, ruw en stug haar tijdens de kindertijd, en progressief haarverlies dat start rond de puberteit."},"pt":{"name":"Hipotricose congénita de Marie-Unna","definition":"A hipotricose hereditária de Marie Unna (MUHH) é um raro transtorno autossómico dominante de perda de cabelo caracterizado pela ausência ou escassez de cabelo, sobrancelhas e pestanas no nascimento; cabelo grosso e áspero durante a infância; e perda progressiva do cabelo restante durante a puberdade."},"pl":{"name":"Dziedziczna hipotrichoza Marie Unna","synonyms":["Dziedziczna hipotrichoza Marie Unna","Hipotrichoza, typu Marie Unna","MUHH"]},"cs":{"name":"Hereditární hypotrichóza Marie Unnové","synonyms":["Hypotrichóza, typ Marie Unnová","MUHH","Vrozená hypotrichóza Marie Unnové"]},"uk":{"name":"Спадковий гіпотрихоз Марії Унни","synonyms":["Гіпотрихоз, тип Марії Унни","Вроджений гіпотрихоз Марії Унни","MUHH"],"definition":"A rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty."},"zh":{"name":"Marie-Unna遗传性稀毛症","synonyms":["先天性少毛症Marie Unna型"]},"tr":{"name":"Marie Unna kalıtsal hipotrikoz","synonyms":["MUHH","Hipotrikoz, Marie Unna tipi","Marie Unna doğumsal hipotrikoz"]}},"xrefs":[{"source":"OMIM","code":"146550","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612841","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q84.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC21.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"716463640"},{"source":"MONDO","code":"0018631","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535912","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931059","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3390","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79364,"name":"Alopecia","classifications":[187]},{"orpha":481771,"name":"Genetic alopecia","classifications":[156]}],"children":[],"genes":[{"symbol":"EPS8L3","name":"EPS8 signaling adaptor L3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23099647[PMID]","hgnc":"21297","ensembl":"ENSG00000198758","omim":"614989","loci":["1p13.3"]},{"symbol":"HR","name":"HR lysine demethylase and nuclear receptor corepressor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19122663[PMID]","hgnc":"5172","ensembl":"ENSG00000168453","omim":"602302","loci":["8p21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"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:0002208","label":"Coarse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200102","label":"Sparse or absent eyelashes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002209","label":"Sparse scalp hair","frequency":"Very frequent (99-80%)","criteria":null}]}}