COL4A1-related disorder
Findings
No curated finding names COL4A1-related disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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).
Definition from the Mondo Disease Ontology (MONDO:0800461), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- COL4A1HGNC:2202
- Definitive · ClinGen · Autosomal dominant · 2024
Where it sits
- A kind of
Other names
1 name
Resolves to: COL4A1-related disorder
- Also called
- COL4A1-related disorders