Details of Disease
General Information of Disease (ID: DIS1NE6J)
| Disease Name | COL4A1-related disorder | ||||
|---|---|---|---|---|---|
| Synonyms | COL4A1-related disorders | ||||
| Definition |
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).
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