Rabson-Mendenhall syndrome: genes and variants
Rabson-Mendenhall syndrome is linked to 1 analyzed protein (INSR). 8 DNA variants are known to cause it; 41 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 Rabson-Mendenhall syndrome
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.
8 disease-causing and 41 uncertain variants in INSR are linked to Rabson-Mendenhall syndrome.
Known disease-causing variants in Rabson-Mendenhall syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| INSR R1020Q | 1020 | Cytoplasmic | Disease-causing (★★) |
| INSR R145C | 145 | Extracellular | Disease-causing (★) |
| INSR R1119Q | 1119 | Protein kinase | Disease-causing (★) |
| INSR R256C | 256 | Extracellular | Disease-causing |
| INSR N42K | 42 | Extracellular | Disease-causing |
| INSR G132S | 132 | Extracellular | Disease-causing |
| INSR S835I | 835 | Fibronectin type-III 2 | Disease-causing |
| INSR A842V | 842 | Fibronectin type-III 2 | Disease-causing |
Same protein, different disease
- Leprechaunism syndrome is also caused by INSR variants; they fall mostly in different places as the Rabson-Mendenhall syndrome variants (14 disease-causing).
- Insulin-resistant diabetes mellitus AND acanthosis nigricans is also caused by INSR variants; they fall mostly in different places as the Rabson-Mendenhall syndrome variants (7 disease-causing).
Diseases related to Rabson-Mendenhall syndrome
- 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
- Insulin-resistant diabetes mellitus AND acanthosis nigricans, also linked to INSR
- Hyperinsulinism due to INSR deficiency, also linked to INSR
Frequently asked questions
Which genes are linked to Rabson-Mendenhall syndrome?
In CATVariant, Rabson-Mendenhall syndrome is linked to 1 analyzed protein: INSR (Insulin receptor).
How many genetic variants are linked to Rabson-Mendenhall syndrome?
55 variants: 8 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 41 are of uncertain significance or have conflicting reports.
Which uncertain variants in Rabson-Mendenhall syndrome 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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