ORPHA:684247
Isolated growth hormone deficiency type IV
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated growth hormone deficiency type IV | |
| fr | Insuffisance somatotrope isolée type IV | |
| de | Isolierter Wachstumshormonmangel Typ IV | |
| es | Deficiencia aislada de la hormona del crecimiento tipo IV | |
| it | Deficit isolato dellormone della crescita tipo IV | |
| nl | Geïsoleerde groeihormoondeficiëntie type IV | |
| pt | Deficiência isolada da hormona do crescimento tipo IV | |
| pl | Isolated growth hormone deficiency type IV | |
| cs | Izolovaný nedostatek růstového hormonu, typ IV |
2
Cross-references
qualifier = Orphanet mapping relationE 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 |
|---|---|---|---|---|---|---|---|---|
| GHRHR | Disease-causing germline mutation(s) in | Assessed | HGNC:4266 | ENSG00000106128 | 139191 | 7p14.3 | growth hormone releasing hormone receptor | 36960394[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.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/684247
- This record as JSON: /data/d/684247.json