Details of Disease

General Information of Disease (ID: DISTLT56)

Disease Name Familial porencephaly
Synonyms familial porencephalic white matter disease; hereditary porencephaly
Definition
An instance of porencephaly that is caused by an inherited modification of the individual's genome.|This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'cardiovascular disorder' (MONDO:0004995) ontology branch (https://orcid.org/0000-0001-9310-0163, https://orcid.org/0000-0001-6718-3559)
Disease Hierarchy
DISD715V: Hereditary neurological disease
DISAB237: Cerebrovascular disease
DISXBWXN: Porencephaly
DISTLT56: Familial porencephaly
Disease Identifiers
MONDO ID
MONDO_0020496
UMLS CUI
C1867983
MedGen ID
401353
Orphanet ID
99810
SNOMED CT ID
1162864000

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 Supportive Autosomal dominant [1]
COL4A2 OTJK1LKN Supportive Autosomal dominant [1]
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References

1 Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.