Hyperinsulinism due to INSR deficiency: genes and variants
Hyperinsulinism due to INSR deficiency is linked to 1 analyzed protein (INSR). 2 DNA variants are known to cause it; 15 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 Hyperinsulinism due to INSR deficiency
INSR: Insulin receptor
Its activation by insulin coordinates glucose uptake, metabolism, growth, and gene expression through PI3K-AKT and MAPK pathways. Biallelic severe loss-of-function variants cause Donohue or Rabson-Mendenhall syndromes, while heterozygous variants can cause severe insulin resistance.
2 disease-causing and 15 uncertain variants in INSR are linked to Hyperinsulinism due to INSR deficiency.
Known disease-causing variants in Hyperinsulinism due to INSR deficiency
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| INSR R1020Q | 1020 | Cytoplasmic | Disease-causing (★★) |
| INSR A1204T | 1204 | Protein kinase | Disease-causing (★) |
Same protein, different disease
- Leprechaunism syndrome is also caused by INSR variants; they fall mostly in different places as the Hyperinsulinism due to INSR deficiency variants (14 disease-causing).
- Rabson-Mendenhall syndrome is also caused by INSR variants; they fall mostly in different places as the Hyperinsulinism due to INSR deficiency variants (8 disease-causing).
- Insulin-resistant diabetes mellitus AND acanthosis nigricans is also caused by INSR variants; they fall mostly in different places as the Hyperinsulinism due to INSR deficiency variants (7 disease-causing).
Diseases related to Hyperinsulinism due to INSR deficiency
- Monogenic diabetes, also linked to INSR
- Type 2 diabetes mellitus, also linked to INSR
- Leprechaunism syndrome, also linked to INSR
- Diabetes mellitus, also linked to INSR
- Type 1 diabetes mellitus, also linked to INSR
- Rabson-Mendenhall syndrome, also linked to INSR
- Insulin-resistant diabetes mellitus AND acanthosis nigricans, also linked to INSR
Frequently asked questions
Which genes are linked to Hyperinsulinism due to INSR deficiency?
In CATVariant, Hyperinsulinism due to INSR deficiency is linked to 1 analyzed protein: INSR (Insulin receptor).
How many genetic variants are linked to Hyperinsulinism due to INSR deficiency?
18 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 15 are of uncertain significance or have conflicting reports.
Which uncertain variants in Hyperinsulinism due to INSR 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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