COL4A1/A2-related disorder
MONDO:1010150A 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.
Also known as: COL4A1/A2 syndrome, Gould syndrome
5 clinical trials for this condition and its sub-types, 2 tagged with COL4A1/A2-related disorder itself.
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Sub-types of COL4A1/A2-related disorder
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COL4A1-related disorder 1 trial · 4 incl. sub-types
5 sub-types
- Brain small vessel disease 1 with or without ocular anomalies 3 trials
- Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome 0 trials
- Familial schizencephaly 0 trials
- Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 0 trials
- Retinal arterial tortuosity 0 trials