Hypoinsulinemic hypoglycemia and body hemihypertrophy: genes and variants
Hypoinsulinemic hypoglycemia and body hemihypertrophy is linked to 1 analyzed protein (AKT2). 1 DNA variants are known to cause it; 38 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 Hypoinsulinemic hypoglycemia and body hemihypertrophy
AKT2: RAC-beta serine/threonine-protein kinase
Downstream of insulin and PI3K signaling, it promotes glucose uptake, glycogen synthesis, and metabolic homeostasis in insulin-responsive tissues. Loss-of-function variants can cause severe insulin resistance, whereas activating variants can produce hypoglycemia and asymmetric overgrowth.
1 disease-causing and 38 uncertain variants in AKT2 are linked to Hypoinsulinemic hypoglycemia and body hemihypertrophy.
Known disease-causing variants in Hypoinsulinemic hypoglycemia and body hemihypertrophy
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| AKT2 E17K | 17 | PH | Disease-causing (★) |
Diseases related to Hypoinsulinemic hypoglycemia and body hemihypertrophy
- Type 2 diabetes mellitus, also linked to AKT2
- Diabetes mellitus, also linked to AKT2
Frequently asked questions
Which genes are linked to Hypoinsulinemic hypoglycemia and body hemihypertrophy?
In CATVariant, Hypoinsulinemic hypoglycemia and body hemihypertrophy is linked to 1 analyzed protein: AKT2 (RAC-beta serine/threonine-protein kinase).
How many genetic variants are linked to Hypoinsulinemic hypoglycemia and body hemihypertrophy?
53 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 38 are of uncertain significance or have conflicting reports.
Which uncertain variants in Hypoinsulinemic hypoglycemia and body hemihypertrophy 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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