{"orpha":231662,"name":"Isolated growth hormone deficiency type IA","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Congenital IGHD type IA","Congenital isolated GH deficiency type IA","Congenital isolated growth hormone deficiency type IA"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-231662/","orphanet_url":"https://www.orpha.net/en/disease/detail/231662","names":{"fr":{"name":"Insuffisance somatotrope isolée type IA","synonyms":["Déficit congénital isolé en hormone de croissance type IA","Déficit congénital isolé en STH type IA"]},"de":{"name":"Wachstumshormonmangel, isolierter, Typ IA","synonyms":["GH-Mangel, isolierter kongenitaler, Typ IA","IGHD, kongenitaler, Typ IA","Wachstumshormonmangel, isolierter kongenitaler, Typ IA"]},"es":{"name":"Deficiencia aislada de hormona de crecimiento tipo IA","synonyms":["Deficiencia congénita aislada de GH tipo IA","Deficiencia congénita aislada de hormona de crecimiento tipo IA","IGHD congénito tipo IA"]},"it":{"name":"Deficit isolato dell'ormone della crescita, tipo 1A","synonyms":["Deficit isolato congenito dell'ormone della crescita, tipo 1A","Deficit isolato congenito di GH, tipo 1A","IGHD congenito, tipo 1A"]},"nl":{"name":"Geïsoleerde groeihormoondeficiëntie type IA","synonyms":["Congenitale IGHD type IA","Congenitale geïsoleerde GH-deficiëntie type IA","Congenitale geïsoleerde groeihormoondeficiëntie type IA"]},"pt":{"name":"Deficiência de hormona de crescimento tipo IA isolada"},"pl":{"name":"Izolowany Niedobór hormonu wzrostu typu IA","synonyms":["Wrodzony IGHD typu IA","Wrodzony izolowany Niedobór GH typu IA","Wrodzony izolowany Niedobór hormonu wzrostu typu IA"]},"cs":{"name":"Izolovaný deficit růstového hormonu, typ 1A","synonyms":["Vrozený IGHD, typ IA","Vrozený izolovaný GH deficit, typ IA","Vrozený izolovaný deficit růstového hormonu, typ IA"]},"uk":{"name":"Ізольований дефіцит гормону росту, тип IA","synonyms":["Вроджений IGHD тип IA","Вроджений ізольований дефіцит гормону росту типу IA","Вроджений ізольований дефіцит гормону росту типу IA"]},"zh":{"name":"孤立性生长激素缺乏症IA型","synonyms":["先天性孤立性生长激素缺乏症IA型"]},"tr":{"name":"İzole büyüme hormonu eksikliği tip IA","synonyms":["Doğumsal IGHD tip IA","Doğumsal izole GH eksikliği tip IA","Doğumsal izole büyüme hormonu eksikliği tip IA"]}},"xrefs":[{"source":"OMIM","code":"262400","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"618160","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E23.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A61.3","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0009876","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7399","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":631,"name":"Non-acquired isolated growth hormone deficiency","classifications":[156,193]}],"children":[],"genes":[{"symbol":"GH1","name":"growth hormone 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19762173[PMID]_22139958[PMID]","hgnc":"4261","ensembl":"ENSG00000259384","omim":"139250","loci":["17q23.3"]},{"symbol":"RNPC3","name":"RNA binding region (RNP1, RRM) containing 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24480542[PMID]","hgnc":"18666","ensembl":"ENSG00000185946","omim":"618016","loci":["1p21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":null}