Short stature due to partial GHR deficiency
Synonyms: Short stature due to partial growth hormone receptor deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Childhood
- Status
- active
Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Short stature due to partial GHR deficiency | Short stature due to partial growth hormone receptor deficiency |
| fr | Petite taille par déficit en GHR | Petite taille par déficit en récepteur de l'hormone de croissance |
| de | Kleinwuchs durch partiellen GHR-Mangel | Kleinwuchs durch partiellen Wachtumshormon-Mangel |
| es | Talla baja por deficiencia parcial de GHR | Talla baja por deficiencia parcial del receptor de la hormona de crecimiento |
| it | Bassa statura da deficit parziale di GHR | Bassa statura da deficit parziale del recettore dell'ormone della crescita |
| nl | Kleine gestalte door partiële GHR-deficiëntie | Kleine gestalte door partiële groeihormoonreceptordeficiëntie |
| pt | Baixa estatura devido à deficiência parcial de GHR | Baixa estatura devido à deficiência parcial do receptor da hormona de crescimento |
| pl | Niski wzrost związany z częściowym niedoborem GHR | Niski wzrost związany z częściowym niedoborem receptora hormonu wzrostu |
| cs | Malý vzrůst způsobený částečným deficitem receptoru pro růstový hormon | = en |
| uk | Низькорослість, зумовлена частковим дефіцитом GHR | Низький зріст через частковий дефіцит рецепторів гормону росту |
| zh | GHR基因部分缺陷所致身材矮小 | 生长激素受体部分缺陷所致身材矮小 |
| tr | Kısmi GHR eksikliği nedeniyle kısa boy | Kısmi büyüme hormonu reseptör eksikliğine bağlı kısa boy |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604271 | E | validated | |
| ICD-10 | E34.3 | NTBT | attributed | validated |
| MONDO | 0011420 | E | validated | |
| UMLS | C5190814 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:181393Growth hormone insensitivity syndrome
rare genetic diseases; rare endocrine diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GHR | Disease-causing germline mutation(s) in | Assessed | HGNC:4263 | ENSG00000112964 | 600946 | 5p13.1-p12 | growth hormone receptor |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
7 annotations · validated 2016-01-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030353 | Decreased serum insulin-like growth factor 1 | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0001510 | Growth delay | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0000823 | Delayed puberty | |
| HP:0001943 | Hypoglycemia | |
| HP:0011800 | Midface retrusion | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 9140387[PMID]_9814495[PMID]_9140387[PMID]_7568946[PMID]_21525302[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/314802
- This record as JSON: /data/d/314802.json