Details of Disease

General Information of Disease (ID: DIST5TVM)

Disease Name Cerebral cavernous malformation 1
Synonyms
CCM; cerebral capillary malformations; cavernous angiomatous malformations; cerebral cavernous malformations 1; cavernous malformations of CNS and retina; cavernous angioma, familial; hyperkeratotic cutaneous capillary-Venous malformations associated with cerebral capillary malformations; cerebral cavernous malformations; cerebral cavernous malformation 1; familial cerebral cavernous malformation 1; cerebral cavernous malformations-1
Disease Hierarchy
DISP72I1: Famililal cerebral cavernous malformations
DIST5TVM: Cerebral cavernous malformation 1
Disease Identifiers
MONDO ID
MONDO_0020724
UMLS CUI
C1366911
MedGen ID
237128

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CCM2 OT2I5DOW Strong Genetic Variation [1]
PDCD10 OTCHJTSF Strong Genetic Variation [1]
KRIT1 OT58AP1I Definitive Autosomal dominant [2]
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References

1 A novel large deletion in CCM1 gene in a Tunisian family.Rev Neurol (Paris). 2019 Mar;175(3):194-197. doi: 10.1016/j.neurol.2018.04.013. Epub 2018 Oct 9.
2 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.