ORPHA:231662
Isolated growth hormone deficiency type IA
Synonyms: Congenital IGHD type IA · Congenital isolated GH deficiency type IA · Congenital isolated growth hormone deficiency type IA
- 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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated growth hormone deficiency type IA | Congenital IGHD type IA · Congenital isolated GH deficiency type IA · Congenital isolated growth hormone deficiency type IA |
| fr | Insuffisance somatotrope isolée type IA | Déficit congénital isolé en hormone de croissance type IA · Déficit congénital isolé en STH type IA |
| de | Wachstumshormonmangel, isolierter, Typ IA | GH-Mangel, isolierter kongenitaler, Typ IA · IGHD, kongenitaler, Typ IA · Wachstumshormonmangel, isolierter kongenitaler, Typ IA |
| es | Deficiencia aislada de hormona de crecimiento tipo IA | Deficiencia congénita aislada de GH tipo IA · Deficiencia congénita aislada de hormona de crecimiento tipo IA · IGHD congénito tipo IA |
| it | Deficit isolato dell'ormone della crescita, tipo 1A | Deficit isolato congenito dell'ormone della crescita, tipo 1A · Deficit isolato congenito di GH, tipo 1A · IGHD congenito, tipo 1A |
| nl | Geïsoleerde groeihormoondeficiëntie type IA | Congenitale IGHD type IA · Congenitale geïsoleerde GH-deficiëntie type IA · Congenitale geïsoleerde groeihormoondeficiëntie type IA |
| pt | Deficiência de hormona de crescimento tipo IA isolada | |
| pl | Izolowany Niedobór hormonu wzrostu typu IA | Wrodzony IGHD typu IA · Wrodzony izolowany Niedobór GH typu IA · Wrodzony izolowany Niedobór hormonu wzrostu typu IA |
| cs | Izolovaný deficit růstového hormonu, typ 1A | Vrozený IGHD, typ IA · Vrozený izolovaný GH deficit, typ IA · Vrozený izolovaný deficit růstového hormonu, typ IA |
| uk | Ізольований дефіцит гормону росту, тип IA | Вроджений IGHD тип IA · Вроджений ізольований дефіцит гормону росту типу IA · Вроджений ізольований дефіцит гормону росту типу IA |
| zh | 孤立性生长激素缺乏症IA型 | 先天性孤立性生长激素缺乏症IA型 |
| tr | İzole büyüme hormonu eksikliği tip IA | Doğumsal IGHD tip IA · Doğumsal izole GH eksikliği tip IA · Doğumsal izole büyüme hormonu eksikliği tip IA |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 262400 | E | validated | |
| OMIM | 618160 | NTBT | validated | |
| ICD-10 | E23.0 | NTBT | attributed | validated |
| ICD-11 | 5A61.3 | NTBT | attributed | validated |
| MONDO | 0009876 | E | validated | |
| GARD | 7399 | 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
2 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] |
| RNPC3 | Disease-causing germline mutation(s) in | Assessed | HGNC:18666 | ENSG00000185946 | 618016 | 1p21.1 | RNA binding region (RNP1, RRM) containing 3 | 24480542[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
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/231662
- This record as JSON: /data/d/231662.json