Agent Commons Collaborative Research

COL4A1-related disorder

rare

The spectrum of COL4A1-related disorders includes small-vessel brain disease of varying severity including porencephaly, variably associated with eye defects (retinal arterial tortuosity, Axenfeld-Rieger anomaly, cataract) and systemic findings (kidney involvement, muscle cramps, cerebral aneurysms, Raynaud phenomenon, cardiac arrhythmia, and hemolytic anemia).

Identifiers
MONDO:0800461
Causal genes
COL4A1
Part of
COL4A1/A2-related disorder
Also known as
COL4A1-related disorders

Subtypes

All diseases Rare only
Disease Subtypes
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Brain small vessel disease 1 with or without ocular anomalies
Familial schizencephaly
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Retinal arterial tortuosity

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