Laron-type isolated somatotropin defect: genes and variants
Laron-type isolated somatotropin defect is linked to 1 analyzed protein (GHR). 7 DNA variants are known to cause it; 32 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 Laron-type isolated somatotropin defect
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.
7 disease-causing and 32 uncertain variants in GHR are linked to Laron-type isolated somatotropin defect.
Where Laron-type isolated somatotropin defect variants cluster
- GHR Extracellular (positions 19–264): 7 of 7 disease-causing changes, 2.6× more than its size predicts.
Known disease-causing variants in Laron-type isolated somatotropin defect
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| GHR C112F | 112 | Extracellular | Disease-causing (★★) |
| GHR N115T | 115 | Extracellular | Disease-causing (★★) |
| GHR V173G | 173 | Fibronectin type-III | Disease-causing (★) |
| GHR C112S | 112 | Extracellular | Disease-causing |
| GHR D170H | 170 | Fibronectin type-III | Disease-causing |
| GHR Q172P | 172 | Fibronectin type-III | Disease-causing |
| GHR F114S | 114 | Extracellular | Disease-causing |
Diseases related to Laron-type isolated somatotropin defect
- Hypercholesterolemia, familial, 1, also linked to GHR
- Monogenic short statue, also linked to GHR
- Chronic kidney disease, also linked to GHR
- Short stature due to partial GHR deficiency, also linked to GHR
Frequently asked questions
Which genes are linked to Laron-type isolated somatotropin defect?
In CATVariant, Laron-type isolated somatotropin defect is linked to 1 analyzed protein: GHR (Growth hormone receptor).
How many genetic variants are linked to Laron-type isolated somatotropin defect?
44 variants: 7 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 32 are of uncertain significance or have conflicting reports.
Which uncertain variants in Laron-type isolated somatotropin defect 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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