{"orpha":1810,"name":"Autosomal dominant hypohidrotic ectodermal dysplasia","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["AD-HED"],"definition":null,"note":"This disease is described under Hypohidrotic ectodermal dysplasia","url":"https://raremap.alftech.space/d/ORPHA-1810/","orphanet_url":"https://www.orpha.net/en/disease/detail/1810","names":{"fr":{"name":"Dysplasie ectodermique hypohidrotique autosomique dominante","synonyms":["AD-HED","DEH-AD"]},"de":{"name":"Dysplasie, ektodermale hypohidrotische, autosomal-dominante","synonyms":["AD-HED"]},"es":{"name":"Displasia ectodérmica hipohidrótica autosómica dominante","synonyms":["DEH-AD"]},"it":{"name":"Displasia ectodermica ipoidrotica autosomica dominante","synonyms":["AD-HED","Displasia ectodermica anidrotica autosomica dominante"]},"nl":{"name":"Autosomaal dominante hypohidrotische ectodermale dysplasie","synonyms":["AD-HED"]},"pt":{"name":"Displasia ectodérmica hipohidrótica autossómica dominante","synonyms":["AD-HED"]},"pl":{"name":"Autosomalna dominująca hipohydrotyczna dysplazja ektodermalna","synonyms":["AD-HED","Autosomalna dominująca anhydrotyczna dysplazja ektodermalna"]},"cs":{"name":"Autozomálně dominantní hypohidrotická ektodermální dysplázie","synonyms":["AD-HED","Autozomálně dominantní anhidrotická ektodermální dysplázie"]},"uk":{"name":"Аутосомно-домінантна гіпогідротична ектодермальна дисплазія","synonyms":["AD-HED","Аутосомно-домінантна ангідротична ектодермальна дисплазія"]},"zh":{"name":"常染色体显性遗传少汗性外胚层发育不良","synonyms":["常染色体显性遗传无汗性外胚层发育不良"]},"tr":{"name":"Otozomal dominant hipohidrotik ektodermal displazi","synonyms":["AD-HED","Otozomal dominant anhidrotik ektodermal displazi"]}},"xrefs":[{"source":"OMIM","code":"129490","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614940","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617337","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.02","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"222258115"},{"source":"MONDO","code":"0015884","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265331","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2048","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":238468,"name":"Hypohidrotic ectodermal dysplasia","classifications":[147,156,187,189,197]}],"children":[],"genes":[{"symbol":"EDAR","name":"ectodysplasin A receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"2895","ensembl":"ENSG00000135960","omim":"604095","loci":["2q13"]},{"symbol":"EDARADD","name":"EDAR associated via death domain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"14341","ensembl":"ENSG00000186197","omim":"606603","loci":["1q42.3-q43"]},{"symbol":"KDF1","name":"keratinocyte differentiation factor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27838789[PMID]","hgnc":"26624","ensembl":"ENSG00000175707","omim":"616758","loci":["1p36.11"]},{"symbol":"LRP6","name":"LDL receptor related protein 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"36553593[PMID]","hgnc":"6698","ensembl":"ENSG00000070018","omim":"603507","loci":["12p13.2"]},{"symbol":"TRAF6","name":"TNF receptor associated factor 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"12036","ensembl":"ENSG00000175104","omim":"602355","loci":["11p12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":40.0,"area":"Worldwide","status":"Validated","source":"9375732[PMID]"},{"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":"2018-01-23","source":null,"terms":[{"hpo":"HP:0006482","label":"Abnormal dental morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000966","label":"Hypohidrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006323","label":"Premature loss of primary teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002231","label":"Sparse body hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000963","label":"Thin skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001231","label":"Abnormal fingernail morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001000","label":"Abnormality of skin pigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000457","label":"Depressed nasal ridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000964","label":"Eczematoid dermatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002047","label":"Malignant hyperthermia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Occasional (29-5%)","criteria":null}]}}