Short stature due to partial GHR deficiency: genes and variants
Short stature due to partial GHR deficiency is linked to 1 analyzed protein (GHR). 1 DNA variants are known to cause it; 17 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Short stature due to partial GHR deficiency
GHR: Growth hormone receptor
Its activation by growth hormone triggers JAK2-STAT signaling that promotes IGF-1 production, linear growth, and metabolic effects. Biallelic or dominant-negative loss-of-function variants can cause growth-hormone insensitivity, while activating alterations are rare.
1 disease-causing and 17 uncertain variants in GHR are linked to Short stature due to partial GHR deficiency.
Known disease-causing variants in Short stature due to partial GHR deficiency
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| GHR W187R | 187 | Fibronectin type-III | Disease-causing |
Same protein, different disease
- Laron-type isolated somatotropin defect is also caused by GHR variants; they fall mostly in different places as the Short stature due to partial GHR deficiency variants (7 disease-causing).
Diseases related to Short stature due to partial GHR deficiency
- Hypercholesterolemia, familial, 1, also linked to GHR
- Monogenic short statue, also linked to GHR
- Laron-type isolated somatotropin defect, also linked to GHR
- Chronic kidney disease, also linked to GHR
Frequently asked questions
Which genes are linked to Short stature due to partial GHR deficiency?
In CATVariant, Short stature due to partial GHR deficiency is linked to 1 analyzed protein: GHR (Growth hormone receptor).
How many genetic variants are linked to Short stature due to partial GHR deficiency?
24 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 17 are of uncertain significance or have conflicting reports.
Which uncertain variants in Short stature due to partial GHR deficiency look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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