{"orpha":181,"name":"X-linked hypohidrotic ectodermal dysplasia","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Christ-Siemens-Touraine syndrome","XHED"],"definition":null,"note":"This disease is described under Hypohidrotic ectodermal dysplasia","url":"https://raremap.alftech.space/d/ORPHA-181/","orphanet_url":"https://www.orpha.net/en/disease/detail/181","names":{"fr":{"name":"Dysplasie ectodermique hypohidrotique liée à l'X","synonyms":["Syndrome de Christ-Siemens-Touraine","XDEH","XHED"]},"de":{"name":"Dysplasie, ektodermale hypohidrotische, X-chromosomale","synonyms":["Christ-Siemens-Touraine-Syndrom","XHED"]},"es":{"name":"Displasia ectodérmica hipohidrótica ligada al cromosoma X","synonyms":["DEHX","Síndrome de Christ-Siemens-Touraine"]},"it":{"name":"Displasia ectodermica ipoidrotica legata all'X","synonyms":["Displasia ectodermica anidrotica legata all'X","Sindrome di Christ-Siemens-Touraine","XHED"]},"nl":{"name":"X-gebonden hypohidrotische ectodermale dysplasie","synonyms":["Syndroom van Christ-Siemens-Touraine","XHED"]},"pt":{"name":"Displasia ectodérmica hipohidrótica ligada ao X","synonyms":["Síndrome Christ-Siemens-Touraine","XHED"]},"pl":{"name":"Hipohydrotyczna dysplazja ektodermalna sprzężona z chromosomem X","synonyms":["Anhydrotyczna dysplazja ektodermalna sprzężona z chromosomem X","XHED","Zespół Christa, Siemensa i Touraine'a"]},"cs":{"name":"X-vázaná hypohidrotická ektodermální dysplázie","synonyms":["X-vázaná anhidrotická ektodermální dysplázie","XHED","Syndrom Christův-Siemensův-Tourainův","Syndrom Christ-Siemens-Tourainův"]},"uk":{"name":"Х-зчеплена гіпогідротична ектодермальна дисплазія","synonyms":["Синдром Кріста-Сіменса-Турена","XHED","Х-зчеплена ангідротична ектодермальна дисплазія"]},"zh":{"name":"X连锁少汗性外胚层发育不良","synonyms":["X连锁无汗性外胚层发育不良"]},"tr":{"name":"X'e bağlı hipohidrotik ektodermal displazi","synonyms":["XHED","Christ-Siemens-Touraine sendromu","X'e bağlı anhidrotik ektodermal displazi"]}},"xrefs":[{"source":"OMIM","code":"305100","qualifier":"E","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":"941793098"},{"source":"MONDO","code":"0010585","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D053358","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0162359","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10427","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":"EDA","name":"ectodysplasin A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"3157","ensembl":"ENSG00000158813","omim":"300451","loci":["Xq13.1"]},{"symbol":"EDA2R","name":"ectodysplasin A2 receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22889853[PMID]","hgnc":"17756","ensembl":"ENSG00000131080","omim":"300276","loci":["Xq12"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.75,"area":"Europe","status":"Validated","source":"[EXPERT]_ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"[EXPERT]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":12.7,"area":"Denmark","status":"Not yet validated","source":"23416623[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100840","label":"Aplasia/Hypoplasia of the eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000457","label":"Depressed nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010803","label":"Everted upper lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000966","label":"Hypohidrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","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:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000830","label":"Anterior hypopituitarism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100651","label":"Type I diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null}]}}