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COL4A1-related disorder

MONDO:0800461

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).

Also known as: COL4A1-related disorders

4 clinical trials for this condition and its sub-types.

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Sub-types

Brain small vessel disease 1 with or without ocular anomalies (3) Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome (0) Familial schizencephaly (0) Microangiopathy and leukoencephalopathy, pontine, autosomal dominant (0) Retinal arterial tortuosity (0)

Broader categories

Disease (618) Hereditary disease (172) Human disease (14) COL4A1/A2-related disorder (2) Disease of genetic or genomic mechanism (2) Disease by etiologic mechanism (0)
Trials to join now! 3 Not yet recruiting 1
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