{"orpha":325524,"name":"Classic congenital lipoid adrenal hyperplasia due to STAR deficency","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Classic CLAH"],"definition":null,"note":"This disease is described under Congenital lipoid adrenal hyperplasia due to STAR deficency","url":"https://raremap.alftech.space/d/ORPHA-325524/","orphanet_url":"https://www.orpha.net/en/disease/detail/325524","names":{"fr":{"name":"Hyperplasie congénitale lipoïde classique des surrénales par déficit en STAR","synonyms":["CLAH classique"]},"de":{"name":"Nebennierenhyperplasie, kongenitale lipoide, durch STAR-Mangel, klassische Form","synonyms":["CLAH, klassische"]},"es":{"name":"Hiperplasia suprarrenal congénita lipoide clásica por deficiencia de STAR","synonyms":["CLAH clásica","HSCL clásica"]},"it":{"name":"Iperplasia surrenalica lipoide congenita classica da deficit di STAR","synonyms":["CLAH classica"]},"nl":{"name":"Klassieke congenitale lipoïde adrenale hyperplasie door STAR-deficiëntie","synonyms":["Klassieke CLAH","Klassieke congenitale lipoïde bijnierhyperplasie door STAR-deficiëntie"]},"pt":{"name":"Hiperplasia supra-renal lipoide congénita clássica por deficiência de STAR","synonyms":["CLAH clássica"]},"pl":{"name":"Klasyczny wrodzony przerost nadnerczy z powodu niedoboru STAR","synonyms":["Klasyczny CLAH"]},"cs":{"name":"Klasická vrozená lipoidní adrenální hyperplázie způsobená STAR deficitem","synonyms":["Klasická CLAH"]},"uk":{"name":"Класична вроджена ліпоїдна гіперплазія надниркових залоз, зумовлена дефіцитом STAR","synonyms":["Класичний CLAH"]},"zh":{"name":"经典STAR缺乏所致先天性类脂性肾上腺增生症","synonyms":["经典型CLAH"]},"tr":{"name":"STAR eksikliğine bağlı klasik doğumsal lipoid adrenal hiperplazi","synonyms":["Klasik CLAH"]}},"xrefs":[{"source":"ICD-10","code":"E25.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A71.01","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1682266795"},{"source":"MONDO","code":"0017972","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679869","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":90790,"name":"Congenital lipoid adrenal hyperplasia due to STAR deficency","classifications":[147,156,185,193,201,205,233]}],"children":[],"genes":[{"symbol":"STAR","name":"steroidogenic acute regulatory protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20444910[PMID]","hgnc":"11359","ensembl":"ENSG00000147465","omim":"600617","loci":["8p11.23"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}