ORPHA:231679
Isolated growth hormone deficiency type II
Synonyms: Congenital IGHD type II · Congenital isolated GH deficiency type II · Congenital isolated growth hormone deficiency type II
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- 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 II | Congenital IGHD type II · Congenital isolated GH deficiency type II · Congenital isolated growth hormone deficiency type II |
| fr | Insuffisance somatotrope isolée type II | Déficit congénital isolé en STH type II · Déficit congénital isolé en hormone de croissance type II |
| de | Wachstumshormonmangel, isolierter, Typ II | GH-Mangel, isolierter kongenitaler, Typ II · IGHD, kongenitaler, Typ II · Wachstumshormonmangel, isolierter kongenitaler, Typ II |
| es | Deficiencia aislada de hormona de crecimiento tipo II | Deficiencia congénita aislada de GH tipo II · Deficiencia congénita aislada de hormona de crecimiento tipo II · IGHD congénito tipo II |
| it | Deficit isolato dell'ormone della crescita, tipo 2 | Deficit isolato congenito dell'ormone della crescita, tipo 2 · Deficit isolato congenito di GH, tipo 2 · IGHD congenito, tipo 2 |
| nl | Geïsoleerde groeihormoondeficiëntie type II | Congenitale IGHD type II · Congenitale geïsoleerde GH-deficiëntie type II · Congenitale geïsoleerde groeihormoondeficiëntie type II |
| pt | Deficiência de hormona de crescimento tipo II isolada | |
| pl | Izolowany Niedobór hormonu wzrostu typu II | Wrodzony IGHD typu II · Wrodzony izolowany Niedobór GH typu II · Wrodzony izolowany Niedobór hormonu wzrostu typu II |
| cs | Izolovaný deficit růstového hormonu, typ II | Vrozený IGHD, typ II · Vrozený izolovaný GH deficit, typ II · Vrozený izolovaný deficit růstového hormonu, typ II |
| uk | Ізольований дефіцит гормону росту, тип II | Вроджений IGHD типу II · Вроджений ізольований дефіцит гормону росту II типу · Вроджений ізольований дефіцит гормону росту II типу |
| zh | 孤立性生长激素缺乏症II型 | 先天性孤立性生长激素缺乏症II型 |
| tr | İzole büyüme hormonu eksikliği tip II | Doğumsal IGHD tip II · Doğumsal izole GH eksikliği tip II · Doğumsal izole büyüme hormonu eksikliği tip II |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 173100 | BTNT | validated | |
| OMIM | 613038 | NTBT | validated | |
| ICD-10 | E23.0 | NTBT | attributed | validated |
| ICD-11 | 5A61.3 | NTBT | attributed | validated |
| MONDO | 0008250 | E | validated | |
| MeSH | C562704 | E | validated | |
| UMLS | C0271567 | E | validated | |
| GARD | 1696 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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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
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| POU1F1 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:9210 | ENSG00000064835 | 173110 | 3p11.2 | POU class 1 homeobox 1 | 26612202[PMID] |
| 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/231679
- This record as JSON: /data/d/231679.json