Hyperproinsulinemia: genes and variants
Hyperproinsulinemia is linked to 1 analyzed protein (INS). 6 DNA variants are known to cause it; 4 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 Hyperproinsulinemia
INS: Insulin
After processing to insulin, it lowers blood glucose by promoting cellular glucose uptake, glycogen and lipid synthesis, and suppression of hepatic glucose production. Pathogenic variants can cause neonatal diabetes, maturity-onset diabetes of the young, or hyperproinsulinemia depending on their effect on folding and secretion.
6 disease-causing and 4 uncertain variants in INS are linked to Hyperproinsulinemia.
Known disease-causing variants in Hyperproinsulinemia
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| INS M1V | 1 | Disease-causing (★★) | |
| INS R89H | 89 | Disease-causing | |
| INS R89P | 89 | Disease-causing | |
| INS R89L | 89 | Disease-causing | |
| INS F49L | 49 | Disease-causing | |
| INS F48S | 48 | Disease-causing |
Same protein, different disease
- Diabetes mellitus, permanent neonatal 3 is also caused by INS variants; they fall partly in the same places as the Hyperproinsulinemia variants (11 disease-causing).
- Neonatal diabetes mellitus is also caused by INS variants; they fall mostly in different places as the Hyperproinsulinemia variants (11 disease-causing).
- Maturity-onset diabetes of the young is also caused by INS variants; they fall mostly in different places as the Hyperproinsulinemia variants (3 disease-causing).
Diseases related to Hyperproinsulinemia
- Monogenic diabetes, also linked to INS
- Maturity-onset diabetes of the young, also linked to INS
- Type 2 diabetes mellitus, also linked to INS
- Diabetes mellitus, permanent neonatal 3, also linked to INS
- Neonatal diabetes mellitus, also linked to INS
- Permanent neonatal diabetes mellitus, also linked to INS
- Diabetes mellitus, also linked to INS
- Type 1 diabetes mellitus, also linked to INS
Frequently asked questions
Which genes are linked to Hyperproinsulinemia?
In CATVariant, Hyperproinsulinemia is linked to 1 analyzed protein: INS (Insulin).
How many genetic variants are linked to Hyperproinsulinemia?
10 variants: 6 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 4 are of uncertain significance or have conflicting reports.
Which uncertain variants in Hyperproinsulinemia 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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