ORPHA:231671
Isolated growth hormone deficiency type IB
Synonyms: Congenital IGHD type IB · Congenital isolated GH deficiency type IB · Congenital isolated growth hormone deficiency type IB
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated growth hormone deficiency type IB | Congenital IGHD type IB · Congenital isolated GH deficiency type IB · Congenital isolated growth hormone deficiency type IB |
| fr | Insuffisance somatotrope isolée type IB | Déficit congénital isolé en STH type IB · Déficit congénital isolé en hormone de croissance type IB |
| de | Wachstumshormonmangel, isolierter, Typ IB | GH-Mangel, isolierter kongenitaler, Typ IB · IGHD, kongenitaler, Typ IB · Wachstumshormonmangel, isolierter kongenitaler, Typ IB |
| es | Deficiencia aislada de hormona de crecimiento tipo IB | Deficiencia congénita aislada de GH tipo IB · Deficiencia congénita aislada de hormona de crecimiento tipo IB · IGHD congénito tipo IB |
| it | Deficit isolato dell'ormone della crescita, tipo 1B | Deficit isolato congenito dell'ormone della crescita, tipo 1B · Deficit isolato congenito di GH, tipo 1B · IGHD congenito, tipo 1B |
| nl | Geïsoleerde groeihormoondeficiëntie type IB | Congenitale IGHD type IB · Congenitale geïsoleerde GH-deficiëntie type IB · Congenitale geïsoleerde groeihormoondeficiëntie type IB |
| pt | Deficiência de hormona de crescimento tipo IB isolada | |
| pl | Izolowany Niedobór hormonu wzrostu typu IB | Wrodzony IGHD typu IB · Wrodzony izolowany Niedobór GH typu IB · Wrodzony izolowany Niedobór hormonu wzrostu typu IB |
| cs | Izolovaný deficit růstového hormonu, typ IB | Vrozený IGHD, typ 1B · Vrozený izolovaný GH deficit, typ IB · Vrozený izolovaný deficit růstového hormonu, typ IB |
| uk | Ізольований дефіцит гормону росту, тип IB | Вроджений IGHD типу IB · Вроджений ізольований дефіцит гормону росту типу IB · Вроджений ізольований дефіцит гормону росту типу IB |
| zh | 孤立性生长激素缺乏症IB型 | 先天性孤立性生长激素缺乏症IB型 |
| tr | İzole büyüme hormonu eksikliği tip IB | Doğumsal IGHD tip IB · Doğumsal izole GH eksikliği tip IB · Doğumsal izole büyüme hormonu eksikliği tip IB |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612781 | E | validated | |
| ICD-10 | E23.0 | NTBT | attributed | validated |
| ICD-11 | 5A61.3 | NTBT | attributed | validated |
| MONDO | 0013006 | E | validated | |
| MeSH | C567564 | E | validated | |
| UMLS | C2748571 | E | validated | |
| GARD | 3919 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:631Non-acquired isolated growth hormone deficiency
rare genetic diseases; rare endocrine diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GH1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4261 | ENSG00000259384 | 139250 | 17q23.3 | growth hormone 1 | 19762173[PMID]_22139958[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/231671
- This record as JSON: /data/d/231671.json