Growth hormone insensitivity syndrome
Synonyms: GHIS · Short stature due to a defect in growth hormone receptor or post-receptor pathway
- Type
- Category
- Group
- Group of disorders
- Status
- active
Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS comprises growth delay due to IGF-1 deficiency, growth delay due to IGF-1 resistance, Laron syndrome, short stature due to STAT5b deficiency and primary acid-labile subunit (ALS) deficiency.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Growth hormone insensitivity syndrome | GHIS · Short stature due to a defect in growth hormone receptor or post-receptor pathway |
| fr | Syndrome d'insensibilité à l'hormone de croissance | Petite taille par défaut du récepteur ou de la voie post-récepteur de l'hormone de croissance |
| de | Syndrom der Wachstumshormoninsensivität | GHIS · Kleinwuchs durch Wachstumshormonrezeptor-Defekt oder Störung im nachfolgenden Stoffwechselweg |
| es | Síndrome de insensibilidad a la hormona de crecimiento | GHIS · Talla baja por un defecto en la vía del receptor o post-receptor de la hormona de crecimiento |
| it | Sindrome da resistenza all'ormone della crescita | Bassa statura da difetto del recettore o del pathway post-recettoriale dell'ormone della crescita · GHIS |
| nl | Groeihormoonongevoeligheidsyndroom | GHIS · Kleine gestalte door een defect in groeihormoonreceptor of postreceptorroute |
| pt | Baixa estatura por defeito do recetor da hormona de crescimento ou na via pós-recetor | |
| pl | Zespół niewrażliwośći na hormon wzrostu | GHIS · Niski wzrost z powodu defektu receptora dla hormonu wzrostu lub szlaku poreceptorowego |
| cs | Syndrom necitlivosti k růstovému hormonu | GHIS · Malý vzrůst způsobený poruchou receptoru pro růstový hormon nebo defektem v post-receptorové dráze |
| uk | Синдром нечутливості до гормону росту | GHIS · Низький зріст через дефект рецептора гормону росту або пострецепторного шляху |
| zh | 生长激素不反应性综合征 | 生长激素或受体后通路缺乏所致身材矮小症 |
| tr | Büyüme hormonu duyarsızlığı sendromu | GHIS · Büyüme hormonu reseptöründe veya reseptör sonrası yolaktaki bir defektine bağlı kısa boyluluk |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0015892 | E | validated | |
| MONDO | 15892 | E | validated | |
| UMLS | C4318479 | E | validated | |
| GARD | 3924 | 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 (3):
- ORPHA:156643Genetic endocrine growth disease
rare genetic diseases - ORPHA:90692Rare endocrine growth disease
rare endocrine diseases - ORPHA:183628Rare genetic hypothalamic or pituitary disease
rare genetic diseases
Children (6):
- ORPHA:73273Growth delay due to insulin-like growth factor I resistance
- ORPHA:73272Growth delay due to insulin-like growth factor type 1 deficiency
- ORPHA:633Laron syndrome
- ORPHA:220465Laron syndrome with immunodeficiency
- ORPHA:314802Short stature due to partial GHR deficiency
- ORPHA:140941Short stature due to primary acid-labile subunit deficiency
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/181393
- This record as JSON: /data/d/181393.json