{"orpha":69084,"name":"Pure hair and nail ectodermal dysplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["HNED","Hair-nail ectodermal dysplasia","PHNED"],"definition":"Pure hair and nail ectodermal dysplasia is characterised by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. Less than 20 cases have been reported so far. The mode of transmission is autosomal dominant.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-69084/","orphanet_url":"https://www.orpha.net/en/disease/detail/69084","names":{"fr":{"name":"Dysplasie ectodermique pure des ongles et des cheveux","synonyms":["HNED","PHNED"],"definition":"La dysplasie ectodermique pure des ongles et des cheveux se caractérise par une onychodystrophie congénitale et une hypotrichose sévère. L'hypotrichose est, la plupart du temps, limitée au cuir chevelu mais peut également toucher les cils et les sourcils. Moins de 20 cas ont été décrits à ce jour. Son mode de transmission est de type autosomique dominant."},"de":{"name":"Dysplasie, ektodermale, reiner Haar-Nagel-Typ","synonyms":["HNED"],"definition":"Dieses Syndrom ist charakterisiert durch das gemeinsame Auftreten einer Nageldystrophie und einer schweren Hypotrichose, die vorwiegend die Kopfhaut betrifft, aber auch Wimpern und Augenbrauen beeinträchtigen kann."},"es":{"name":"Displasia ectodérmica pura de cabello-uña","synonyms":["Displasia ectodérmica cabello-uña","HNED"],"definition":"Es un síndrome caracterizado por una asociación de onicodistrofia e hipotricosis grave, generalmente limitada al cuero cabelludo pero que también puede afectar a las pestañas y a las cejas. Hasta la fecha se han descrito menos de veinte casos. La herencia es autosómica dominante."},"it":{"name":"Displasia ectodermica pura dei capelli e delle unghie","synonyms":["Displasia ectodermica capelli-unghie","HNED"]},"nl":{"name":"Zuivere ectodermale dysplasie van haar en nagel","synonyms":["HNED","Haar-nagel ectodermale dysplasie"],"definition":"Zuivere ectodermale dysplasie van haar en nagel wordt gekenmerkt door de associatie van onychodystrofie en ernstige hypotrichose, hoofdzakelijk beperkt tot scalp maar mogelijk ook met aantasting van wimpers en wenkbrauwen. Tot op heden werden minder dan 20 gevallen gerapporteerd. Overerving gebeurt autosomaal dominant."},"pt":{"name":"Displasia ectodérmica 'pura' tipo cabelo-unha"},"pl":{"name":"Dysplazja ektodermalna włosów i paznokci","synonyms":["Dysplazja ektodermalna włosy-paznokcie","HNED","PHNED"]},"cs":{"name":"Ektodermální dysplázie postihující pouze vlasy a nehty","synonyms":["HNED","Vlasonehtová ektodermální dysplázie","PHNED"]},"uk":{"name":"Ектодермальна дисплазія обмежена волоссям та нігтями","synonyms":["Ектодермальна дисплазія волосся та нігтів","HNED","PHNED"],"definition":"Pure hair and nail ectodermal dysplasia is characterised by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. Less than 20 cases have been reported so far. The mode of transmission is autosomal dominant."},"zh":{"name":"单纯毛发及指甲外胚层发育不良","synonyms":["头发-甲外胚层发育不良"]},"tr":{"name":"Saf saç ve tırnak ektodermal displazi","synonyms":["HNED","PHNED","Saç-tırnak ektodermal displazi"]}},"xrefs":[{"source":"OMIM","code":"602032","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614927","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614928","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614929","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614931","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"691002661"},{"source":"MONDO","code":"0019071","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566592","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4024880","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]}],"children":[],"genes":[{"symbol":"HOXC13","name":"homeobox C13","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23063621[PMID]","hgnc":"5125","ensembl":"ENSG00000123364","omim":"142976","loci":["12q13.13"]},{"symbol":"KRT74","name":"keratin 74","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24714551[PMID]","hgnc":"28929","ensembl":"ENSG00000170484","omim":"608248","loci":["12q13.13"]},{"symbol":"KRT85","name":"keratin 85","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16525032[PMID]","hgnc":"6462","ensembl":"ENSG00000135443","omim":"602767","loci":["12q13.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"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":null}