{"orpha":631,"name":"Non-acquired isolated growth hormone deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital IGHD","Congenital isolated GH deficiency","Congenital isolated growth hormone deficiency"],"definition":"A rare non-acquired pituitary hormone deficiency characterized by growth deficiency, delayed bone age, and short stature of variable severity and age of onset, and with variable response to treatment with recombinant human growth hormone, depending on the respective subtype of the disease. Hormone deficiency may be quantitative or qualitative in nature.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-631/","orphanet_url":"https://www.orpha.net/en/disease/detail/631","names":{"fr":{"name":"Insuffisance somatotrope non acquise isolée","synonyms":["Déficit congénital isolé en STH","Déficit congénital isolé en hormone de croissance"],"definition":"Insuffisance hypophysaire non acquise rare, caractérisée par un retard de croissance, un retard de l'âge osseux et une petite taille de sévérité et de survenue variables. La réponse au traitement par hormone de croissance humaine recombinante est variable car elle dépend du sous-type de la maladie. L'insuffisance somatotrope peut être de nature quantitative ou qualitative."},"de":{"name":"Wachstumshormonmangel, isolierter, nicht erworbener","synonyms":["GH-Mangel, isolierter kongenitaler","IGHD, kongenital","Wachstumshormonmangel, isolierter kongenitaler"],"definition":"Ein seltener, nicht erworbener Hypophysenhormonmangel, der durch Wachstumsretardierung, verzögertes Knochenalter und Kleinwuchs gekennzeichnet ist, wobei der Schweregrad und das Erkrankungsalter variieren und das Ansprechen auf eine Behandlung mit rekombinantem humanem Wachstumshormon je nach Subtyp der Erkrankung unterschiedlich ist. Der Hormonmangel kann quantitativer oder qualitativer Art sein."},"es":{"name":"Deficiencia aislada no adquirida de la hormona de crecimiento","synonyms":["Deficiencia aislada congénita de la GH","Deficiencia aislada congénita de la hormona de crecimiento","IGHD congénito"],"definition":"Es una deficiencia no adquirida y poco frecuente de la hormona hipofisaria caracterizada por deficiencia del crecimiento, retraso de la edad ósea y talla baja de gravedad y edad de inicio variables, y con una respuesta variable al tratamiento con hormona de crecimiento humana recombinante, según el respectivo subtipo de la enfermedad. La deficiencia hormonal puede ser de naturaleza cuantitativa o cualitativa."},"it":{"name":"Deficit isolato dell'ormone della crescita non acquisito","synonyms":["Deficit congenito isolato dell'ormone della crescita","Deficiti congenito di GH isolato","IGHD congenito"],"definition":"Si tratta di un deficit raro non acquisito degli ormoni ipofisari, caratterizzato da ritardo della crescita e dell'età ossea e bassa statura di gravità ed età d'esordio variabili. La risposta al trattamento con l'ormone della crescita umano ricombinante è variabile, a seconda del sottotipo della malattia. Il deficit ormonale può essere quantitativo o qualitativo."},"nl":{"name":"Niet-verworven geïsoleerde groeihormoondeficiëntie","synonyms":["Congenitale IGHD","Congenitale geïsoleerde GH-deficiëntie","Congenitale geïsoleerde groeihormoondeficiëntie"],"definition":"Een zeldzame, niet-verworven deficiëntie van hypofysehormoon, gekenmerkt door groeideficiëntie, vertraagde botmaturatie, en kleine gestalte met variabele ernst en aanvangsleeftijd, en met variabele respons op behandeling met recombinant humaan groeihormoon, afhankelijk van het subtype van de ziekte. Hormoondeficiëntie kan kwantitatief of kwalitatief van aard zijn."},"pt":{"name":"Deficiência de hormona do crescimento isolada não-adquirida","synonyms":["Nanismo hipofisário","Nanismo por deficiência isolada de hormona do crescimento","Nanismo primário"]},"pl":{"name":"Izolowany Niedobór hormonu wzrostu","synonyms":["Wrodzony IGHD","Wrodzony izolowany Niedobór GH","Wrodzony izolowany Niedobór hormonu wzrostu"]},"cs":{"name":"Nezískaný izolovaný deficit růstového hormonu","synonyms":["Vrozený IGHD","Vrozený izolovaný deficit GH","Vrozený izolovaný deficit růstového hormonu"]},"uk":{"name":"Ненабутий ізольований дефіцит гормону росту","synonyms":["Вроджений IGHD","Вроджений ізольований дефіцит ГР","Вроджений ізольований дефіцит гормону росту"],"definition":"A rare non-acquired pituitary hormone deficiency characterized by growth deficiency, delayed bone age, and short stature of variable severity and age of onset, and with variable response to treatment with recombinant human growth hormone, depending on the respective subtype of the disease. Hormone deficiency may be quantitative or qualitative in nature."},"zh":{"name":"非获得性孤立型生长激素缺乏症","synonyms":["先天性孤立型生长激素缺乏症"]},"tr":{"name":"Edinsel olmayan izole büyüme hormonu eksikliği","synonyms":["Doğumsal IGHD","Doğumsal izole GH eksikliği","Doğumsal izole büyüme hormonu eksikliği"]}},"xrefs":[{"source":"OMIM","code":"173100","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"262400","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"262650","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"300123","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"307200","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612781","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E23.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5A61.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"936501166"},{"source":"MONDO","code":"0000050","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679572","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12556","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10035083","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":95488,"name":"Non-acquired pituitary hormone deficiency","classifications":[156,193]}],"children":[{"orpha":231662,"name":"Isolated growth hormone deficiency type IA","type":"Clinical subtype"},{"orpha":231671,"name":"Isolated growth hormone deficiency type IB","type":"Clinical subtype"},{"orpha":231679,"name":"Isolated growth hormone deficiency type II","type":"Clinical subtype"},{"orpha":231692,"name":"Isolated growth hormone deficiency type III","type":"Clinical subtype"},{"orpha":684247,"name":"Isolated growth hormone deficiency type IV","type":"Clinical subtype"},{"orpha":629,"name":"Short stature due to growth hormone qualitative anomaly","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"POU1F1","name":"POU class 1 homeobox 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"26612202[PMID]","hgnc":"9210","ensembl":"ENSG00000064835","omim":"173110","loci":["3p11.2"],"via":{"orpha":231679,"name":"Isolated growth hormone deficiency type II"}},{"symbol":"GH1","name":"growth hormone 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"8552145[PMID]_9276733[PMID]_15713716[PMID]","hgnc":"4261","ensembl":"ENSG00000259384","omim":"139250","loci":["17q23.3"],"via":{"orpha":629,"name":"Short stature due to growth hormone qualitative anomaly"}},{"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"],"via":{"orpha":231662,"name":"Isolated growth hormone deficiency type IA"}},{"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"],"via":{"orpha":231671,"name":"Isolated growth hormone deficiency type IB"}},{"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"],"via":{"orpha":231679,"name":"Isolated growth hormone deficiency type II"}},{"symbol":"GHRHR","name":"growth hormone releasing hormone receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"36960394[PMID]","hgnc":"4266","ensembl":"ENSG00000106128","omim":"139191","loci":["7p14.3"],"via":{"orpha":684247,"name":"Isolated growth hormone deficiency type IV"}},{"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"],"via":{"orpha":231662,"name":"Isolated growth hormone deficiency type IA"}}],"inheritance":["Autosomal dominant","Autosomal recessive","X-linked recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"22851490[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-09-26","source":"30576428[PMID]_27974187[PMID]_24450934[PMID]","terms":[{"hpo":"HP:0000830","label":"Anterior hypopituitarism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012743","label":"Abdominal obesity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001620","label":"Abnormally high-pitched voice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003199","label":"Decreased muscle mass","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000824","label":"Decreased response to growth hormone stimulation test","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030353","label":"Decreased serum insulin-like growth factor 1","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000295","label":"Doll-like facies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001998","label":"Neonatal hypoglycemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100678","label":"Premature skin wrinkling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006579","label":"Prolonged neonatal jaundice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030260","label":"Microphallus","frequency":"Occasional (29-5%)","criteria":null}]}}