Microvascular complications of diabetes, susceptibility to, 3: genes and variants
Microvascular complications of diabetes, susceptibility to, 3 is linked to 2 analyzed proteins (ACE and HFE). 2 DNA variants are known to cause it; 187 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: Microvascular complications of diabetes, susceptibility to, 4; Microvascular complications of diabetes, susceptibility to, 7
Genes linked to Microvascular complications of diabetes, susceptibility to, 3
ACE: Angiotensin-converting enzyme
A membrane-associated enzyme that removes terminal dipeptides from hormones and signaling peptides, including angiotensin I and bradykinin. By generating angiotensin II and inactivating vasodilators, it helps regulate blood pressure, fluid balance, and aspects of nervous-system signaling.
1 disease-causing and 179 uncertain variants in ACE are linked to Microvascular complications of diabetes, susceptibility to, 3.
HFE: Hereditary hemochromatosis protein
It helps the liver sense circulating iron availability and regulate hepcidin, thereby controlling intestinal iron absorption and systemic iron distribution. The C282Y variant is the major genetic cause of HFE-related hereditary hemochromatosis and progressive iron overload.
1 disease-causing and 5 uncertain variants in HFE are linked to Microvascular complications of diabetes, susceptibility to, 3.
Weakly linked (only a few uncertain records): IL1RN.
Known disease-causing variants in Microvascular complications of diabetes, susceptibility to, 3
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ACE M1T | 1 | Disease-causing (★) | |
| HFE C282Y | 282 | Ig-like C1-type | Disease-causing |
Same protein, different disease
- Hemochromatosis is also caused by HFE variants; they fall mostly in different places as the Microvascular complications of diabetes, susceptibility to, 3 variants (5 disease-causing).
Diseases related to Microvascular complications of diabetes, susceptibility to, 3
- Alzheimer disease, also linked to ACE and HFE
- Type 2 diabetes mellitus, also linked to ACE
- Hemochromatosis, also linked to HFE
- Diabetes mellitus, also linked to ACE
- Myocardial infarction, also linked to ACE
- Renal tubular dysgenesis, also linked to ACE
- Renal tubular dysgenesis of genetic origin, also linked to ACE
- Hereditary hemochromatosis, also linked to HFE
- Hemorrhage, intracerebral, susceptibility to, also linked to ACE
- Familial porphyria cutanea tarda, also linked to HFE
Frequently asked questions
Which genes are linked to Microvascular complications of diabetes, susceptibility to, 3?
In CATVariant, Microvascular complications of diabetes, susceptibility to, 3 is linked to 2 analyzed proteins: ACE (Angiotensin-converting enzyme) and HFE (Hereditary hemochromatosis protein).
How many genetic variants are linked to Microvascular complications of diabetes, susceptibility to, 3?
191 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 187 are of uncertain significance or have conflicting reports.
Which uncertain variants in Microvascular complications of diabetes, susceptibility to, 3 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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