{"orpha":632,"name":"Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-632/","orphanet_url":"https://www.orpha.net/en/disease/detail/632","names":{"fr":{"name":"Petite taille par déficit isolé en hormone de croissance associé à une hypogammaglobulinémie liée à l'X"},"de":{"name":"Kleinwuchs durch isolierten Wachstumshormonmangel mit X-chromosomaler Hypogammaglobulinämie"},"es":{"name":"Talla baja por deficiencia aislada de hormona de crecimiento asociado a hipogammaglobulinemia ligada al cromosoma X"},"it":{"name":"Bassa statura da deficit isolato dell'ormone della crescita associato a ipogammaglobulinemia legata all'X"},"nl":{"name":"Kleine gestalte als gevolg van geïsoleerde groeihormoondeficiëntie met X-gebonden hypogammaglobulinemie"},"pt":{"name":"Baixa estatura por deficiência de hormona do crescimento isolada com hipogamaglobulinemia ligada ao X"},"pl":{"name":"Niski wzrost spowodowany izolowanymniedoborem hormonu wzrostu z hipogammaglobulinemią sprzeżoną z chromosomem X"},"cs":{"name":"Malý vzrůst způsobený izolovaným deficitem růstového hormonu s X-vázanou hypogamaglobulinémií"},"uk":{"name":"Низькорослість внаслідок ізольованого дефіциту гормону росту з Х-зчепленою гіпогаммаглобулінемією"},"zh":{"name":"孤立型生长激素缺乏伴X-连锁低丙球蛋白血症所致身材矮小"},"tr":{"name":"X'e bağlı hipogamaglobulinemi ile izole büyüme hormonu eksikliğine bağlı kısa boy"}},"xrefs":[{"source":"OMIM","code":"307200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E23.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1511046829"},{"source":"MONDO","code":"0018967","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0472813","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":231692,"name":"Isolated growth hormone deficiency type III","classifications":[156,193]},{"orpha":229720,"name":"Syndromic agammaglobulinemia","classifications":[156,195]}],"children":[],"genes":[{"symbol":"BTK","name":"Bruton tyrosine kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"8013627[PMID]_9554752[PMID]_22139958[PMID]","hgnc":"1133","ensembl":"ENSG00000010671","omim":"300300","loci":["Xq22.1"]},{"symbol":"ELF4","name":"E74 like ETS transcription factor 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18180883[PMID]","hgnc":"3319","ensembl":"ENSG00000102034","omim":"300775","loci":["Xq26.1"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":null}