Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome: genes and variants
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome is linked to 1 analyzed protein (COL3A1). 6 DNA variants are known to cause it; 69 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 Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
COL3A1: Collagen alpha-1(III) chain
Its type III collagen fibrils provide tensile support in arteries, bowel, uterus, skin, and other distensible connective tissues. Pathogenic variants cause vascular Ehlers-Danlos syndrome with marked arterial and hollow-organ fragility.
6 disease-causing and 69 uncertain variants in COL3A1 are linked to Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome.
Known disease-causing variants in Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| COL3A1 G405R | 405 | Triple-helical region | Disease-causing (★★) |
| COL3A1 G666S | 666 | Triple-helical region | Disease-causing (★★) |
| COL3A1 G195R | 195 | Triple-helical region | Disease-causing (★★) |
| COL3A1 G855C | 855 | Triple-helical region | Disease-causing (★★) |
| COL3A1 P49A | 49 | VWFC | Disease-causing (★★) |
| COL3A1 G489W | 489 | Triple-helical region | Disease-causing (★) |
Same protein, different disease
- Ehlers-Danlos syndrome is also caused by COL3A1 variants; they fall mostly in different places as the Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome variants (196 disease-causing).
- Familial thoracic aortic aneurysm and aortic dissection is also caused by COL3A1 variants; they fall mostly in different places as the Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome variants (57 disease-causing).
- Familial aortopathy is also caused by COL3A1 variants; they fall mostly in different places as the Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome variants (5 disease-causing).
Diseases related to Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
- Familial thoracic aortic aneurysm and aortic dissection, also linked to COL3A1
- Ehlers-Danlos syndrome, also linked to COL3A1
- Connective tissue disorder, also linked to COL3A1
- Familial aortopathy, also linked to COL3A1
- Familial hemophagocytic lymphohistiocytosis, also linked to COL3A1
Frequently asked questions
Which genes are linked to Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome?
In CATVariant, Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome is linked to 1 analyzed protein: COL3A1 (Collagen alpha-1(III) chain).
How many genetic variants are linked to Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome?
86 variants: 6 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 69 are of uncertain significance or have conflicting reports.
Which uncertain variants in Polymicrogyria with or without vascular-type Ehlers-Danlos 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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