Details of Disease

General Information of Disease (ID: DISJKAHD)

Disease Name Brain small vessel disease 1 with or without ocular anomalies
Synonyms
hemiplegia, infantile, with porencephaly porencephaly, type 1; porencephaly, type 1, autosomal dominant; POREN1; infantile hemiparesis; brain small vessel disease with Axenfeld-Riegar anomaly; autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy; COL4A1-related familial vascular leukoencephalopathy; brain small vessel disease with haemorrhage; porencephaly caused by mutation in COL4A1; hemiplegia, infantile, with porencephaly; BSVD1; COL4A1 porencephaly; porencephaly type 1; brain small vessel disease with axenfeld-rieger anomaly; porencephaly 1; ADT1P; COL4A1-related brain small vessel disease with haemorrhage; BSVD; leukoencephalopathy with axenfeld-rieger anomaly; brain small vessel disease with hemorrhage; COL4A1-related brain small vessel disease with hemorrhage; COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome; T1P; retinal arteriolar tortuosity, infantile hemiparesis, and leukoencephalopathy, autosomal dominant; brain small vessel disease with or without ocular anomalies
Definition Any porencephaly in which the cause of the disease is a mutation in the COL4A1 gene.
Disease Hierarchy
DIS1NE6J: COL4A1-related disorder
DISTLT56: Familial porencephaly
DISJKAHD: Brain small vessel disease 1 with or without ocular anomalies
Disease Identifiers
MONDO ID
MONDO_0008289
MESH ID
D065708
UMLS CUI
C4551998
OMIM ID
175780
MedGen ID
1647320
Orphanet ID
36383

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
COL4A1 OTL6D1YE Definitive Autosomal dominant [1]
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References

1 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.