Details of Disease

General Information of Disease (ID: DISXDCXB)

Disease Name Porencephaly 2
Synonyms POREN2; porencephaly caused by mutation in COL4A2; brain small vessel disease 2; porencephaly 2; porencephaly type 2; COL4A2 porencephaly
Definition Any porencephaly in which the cause of the disease is a mutation in the COL4A2 gene.
Disease Hierarchy
DISTLT56: Familial porencephaly
DISXDCXB: Porencephaly 2
Disease Identifiers
MONDO ID
MONDO_0013773
UMLS CUI
C3280970
OMIM ID
614483
MedGen ID
482600

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
COL4A2 OTJK1LKN Strong Autosomal dominant [1]
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References

1 De novo and inherited mutations in COL4A2, encoding the type IV collagen 2 chain cause porencephaly. Am J Hum Genet. 2012 Jan 13;90(1):86-90. doi: 10.1016/j.ajhg.2011.11.016. Epub 2011 Dec 29.