Cerebral vascular malformations

Gene: COL4A1

Red List (low evidence)

Comment on list classification: small vessel disease rather than cerebral vascular malformations

Created: 12 Dec 2016, 12:40 p.m.

GeneReviews: small-vessel brain disease is manifest as diffuse periventricular leukoencephalopathy, lacunar infarcts, microhemorrhage, dilated perivascular spaces, and deep intracerebral hemorrhages. Clinically, small-vessel brain disease manifests as infantile hemiparesis, seizures, single or recurrent hemorrhagic stroke, ischemic stroke, and isolated migraine with aura. May be dominant negative mutations

ie small vessel disease rather than cerebral vascular malformations

Created: 12 Dec 2016, 12:39 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Brain small vessel disease with or without ocular anomalies 607595, Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773, Hemorrhage, intracerebral, susceptibility to 614519

Publications

• 20301768, 16598045

Mode of pathogenicity
Other