ZFIN Human Disease: brain small vessel disease 1

OBO ID: DOID:0090125

Term Name:	brain small vessel disease 1		Search Ontology:
Synonyms:	autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy brain small vessel disease with Axenfeld-Riegar anomaly brain small vessel disease with hemorrhage brain small vessel disease with or without ocular anomalies BSVD1 COL4A1-related brain small vessel disease with hemorrhage COL4A1-related familial vascular leukoencephalopathy COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome infantile hemiparesis leukoencephalopathy with Axenfeld-Riegar anomaly
Definition:	A brain small vessel disease that is characterized by 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 autosomal dominant inheritance of heterozygous mutation in the collagen type IV alpha 1 chain gene (COL4A1) on chromosome 13q34. (3)
References:	OMIM:175780 ORDO:36383
Ontology:	Human Disease ( DOID:0090125 )

Relationships

is a type of:	autosomal dominant disease brain small vessel disease autosomal dominant disease brain small vessel disease Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
COL4A1	col4a1	Brain small vessel disease with or without ocular anomalies	175780

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None