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Reference

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A reference for what the literature reports. Not medical advice.

Disease

COL4A1/A2-related disorder

MONDO:1010150Mondo

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Findings

No curated finding names COL4A1/A2-related disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

A rare genetic disorder characterized by abnormal blood vessels in the brain (cerebral vasculature defects), eye development defects (ocular dysgenesis), muscle disease (myopathy) and kidney abnormalities (renal pathology) due to a variation in the COL4A1 or COL4A2 gene.

Definition from the Mondo Disease Ontology (MONDO:1010150), read 2026-09-29. CC BY 4.0.

Where it sits

A kind of: hereditary disease
Narrower terms (3): brain small vessel disease 2A, autosomal dominant
COL4A1-related disorder
hemorrhage, intracerebral, susceptibility to

Other names

2 names

Resolves to: COL4A1/A2-related disorder

Also called: COL4A1/A2 syndromeGould syndrome