Short stature due to growth hormone qualitative anomaly
Synonyms: Kowarski syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Short stature due to growth hormone qualitative anomaly is characterised by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the <i>GH1</i> gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Short stature due to growth hormone qualitative anomaly | Kowarski syndrome |
| fr | Petite taille par anomalie qualitative de l'hormone de croissance | Syndrome de Kowarski |
| de | Kleinwuchs durch qualitative Wachstumshormonanomalien | Kowarski-Syndrom · Wachstumshormonmangel Typ 1 |
| es | Talla baja por anomalía cualitativa de hormona de crecimiento | Síndrome de Kowarski |
| it | Bassa statura da difetto quantitativo dell'ormone della crescita | Sindrome di Kowarski |
| nl | Kleine gestalte door kwalitatieve anomalie van groeihormoon | Syndroom van Kowarski |
| pt | Baixa estatura por anomalia qualitativa da hormona de crescimento | Síndrome Kowarski |
| pl | Niski wzrost spowodowany anomalią jakościową hormonu wzrostu | Zespół Kowarskiego |
| cs | Malý vzrůst způsobený kvalitativní anomálií růstového hormonu | Kowarského syndrom |
| uk | Низькорослість внаслідок аномального гормону росту | Синдром Коварського |
| zh | 生长激素结构异常所致身材矮小 | Kowarski综合征 |
| tr | Büyüme hormonu kalitatif anomali -ilişkili kısa boy | Kowarski sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 262650 | E | validated | |
| ICD-10 | E23.0 | NTBT | attributed | validated |
| ICD-11 | 5A61.0 | NTBT | index | validated |
| MONDO | 0009879 | E | validated | |
| MeSH | C537505 | E | validated | |
| UMLS | C1849779 | E | validated | |
| GARD | 408 | 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:631Non-acquired isolated growth hormone deficiency
rare genetic diseases; rare endocrine diseases
No children.
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 | 8552145[PMID]_9276733[PMID]_15713716[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 263308[PMID]_3965948[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_263308[PMID]_3965948[PMID] |
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/629
- This record as JSON: /data/d/629.json