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brain small vessel disease 1 with or without ocular anomalies

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any porencephaly in which the cause of the disease is a mutation in the COL4A1 gene.
Uniprot Description A neurologic disorder characterized by a fluid-filled cysts or cavities within the cerebral hemispheres, neurologic manifestations, facial paresis, and visual defects. Affected individuals typically have hemiplegia, seizures, and intellectual disability. Porencephaly type 1 is usually unilateral and results from focal destructive lesions such as fetal vascular occlusion or birth trauma.
Disease Ontology Description A brain disease characterized by autosomal dominant inheritance of fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has_material_basis_in heterozygous mutation in the COL4A1 gene on chromosome 13q34.
Mondo Term and Equivalent IDs
MONDO:0008289:  brain small vessel disease 1 with or without ocular anomalies
MESH:C531642: 
MESH:C564372: 
Orphanet:36383: 
UMLS:CN032791: