Details of Disease

General Information of Disease (ID: DISXBWXN)

Disease Name Porencephaly
Definition
Porencephaly is characterized by a circumscribed intracerebral cavity of variable size that may be bordered by abnormal polymicrogyric gray matter. In extreme cases, this cavity may result in a communication between the pial surface and the ventricle; this is termed schizencephaly.
Disease Hierarchy
DIS0P42Q: Encephaloclastic disorder
DISXBWXN: Porencephaly
Disease Identifiers
MONDO ID
MONDO_0017410
MESH ID
D065708
UMLS CUI
C4082173
MedGen ID
901502
Orphanet ID
2940

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
COL4A1 OTL6D1YE moderate Genetic Variation [1]
COLGALT1 OTVG0P58 Strong Genetic Variation [2]
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References

1 Cerebral small vessel disease with hemorrhagic stroke related to COL4A1 mutation: A case report.Neuropathology. 2020 Feb;40(1):93-98. doi: 10.1111/neup.12607. Epub 2019 Dec 5.
2 Collagen glycosylation.Curr Opin Struct Biol. 2019 Jun;56:131-138. doi: 10.1016/j.sbi.2019.01.015. Epub 2019 Feb 26.