{"orpha":189,"name":"Hidrotic ectodermal dysplasia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Clouston syndrome"],"definition":"Clouston syndrome (or hidrotic ectodermal dysplasia) is characterised by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-189/","orphanet_url":"https://www.orpha.net/en/disease/detail/189","names":{"fr":{"name":"Dysplasie ectodermique hidrotique","synonyms":["Syndrome de Clouston"],"definition":"Le syndrome de Clouston (ou dysplasie ectodermique hidrotique) est caractérisé par la triade clinique suivante : une dystrophie unguéale, une alopécie et une hyperkératose palmoplantaire."},"de":{"name":"Dysplasie, ektodermale hidrotische","synonyms":["Clouston-Syndrom"],"definition":"Das Clouston-Syndrom (auch Hidrotische ektodermale Dysplasie genannt) ist gekennzeichnet durch die Trias Nageldystrophie, Alopezie und palmoplantare Hyperkeratose."},"es":{"name":"Displasia ectodérmica hidrótica","synonyms":["Síndrome de Clouston"],"definition":"Es un síndrome caracterizado por la tríada clínica de distrofia ungueal, alopecia e hiperqueratosis palmoplantar."},"it":{"name":"Displasia ectodermica idrotica","synonyms":["Sindrome di Clouston"]},"nl":{"name":"Hidrotische ectodermale dysplasie","synonyms":["Syndroom van Clouston"],"definition":"Syndroom van Clouston (of hidrotische ectodermale dysplasie) wordt gekarakteriseerd door de klinische triade van nageldystrofie, alopecie, en palmoplantaire hyperkeratose."},"pt":{"name":"Displasia ectodérmica hidrótica","synonyms":["Síndrome Clouston"],"definition":"A síndrome de Clouston (displasia ectodérmica hidrótica) é caracterizada pela tríade clínica de distrofia das unhas, alopécia e hiperqueratose palmoplantar."},"pl":{"name":"Dysplazja ektodermalna typu hidrotycznego","synonyms":["Zespół Cloustona"]},"cs":{"name":"Hidrotická ektodermální dysplázie","synonyms":["Cloustonův syndrom"]},"uk":{"name":"Гідротична ектодермальна дисплазія","synonyms":["Синдром Клустона"],"definition":"Clouston syndrome (or hidrotic ectodermal dysplasia) is characterised by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis."},"zh":{"name":"有汗型外胚层发育不良","synonyms":["Clouston综合征"]},"tr":{"name":"Hidrotik ektodermal displazi","synonyms":["Clouston sendromu"]}},"xrefs":[{"source":"OMIM","code":"129500","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.03","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1811429982"},{"source":"MONDO","code":"0007510","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0162361","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2056","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98352,"name":"Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature","classifications":[156,187]},{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[{"symbol":"GJB6","name":"gap junction protein beta 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11017065[PMID]_11874494[PMID]","hgnc":"4288","ensembl":"ENSG00000121742","omim":"604418","loci":["13q12.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-12-03","source":"32843087[PMID]_20301379[PMID]","terms":[{"hpo":"HP:0001596","label":"Alopecia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000972","label":"Palmoplantar hyperkeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045075","label":"Sparse eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000653","label":"Sparse eyelashes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011911","label":"Abnormality of metacarpophalangeal joint","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002221","label":"Absent axillary hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002223","label":"Absent eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002555","label":"Absent pubic hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001798","label":"Anonychia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004779","label":"Brittle scalp hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100759","label":"Clubbing of fingers","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031288","label":"Cobblestone-like hyperkeratosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002213","label":"Fine hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004528","label":"Generalized hypotrichosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045059","label":"Hyperkeratotic papule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000953","label":"Hyperpigmentation of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005599","label":"Hypopigmentation of hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008383","label":"Slow-growing nails","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001792","label":"Small nail","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002215","label":"Sparse axillary hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002225","label":"Sparse pubic hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002209","label":"Sparse scalp hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Occasional (29-5%)","criteria":null}]}}