Details of Disease

General Information of Disease (ID: DISHAV0P)

Disease Name Cerebral cavernous malformation 3
Synonyms
cerebral cavernous malformations-3; cerebral cavernous malformation 3; cerebral cavernous malformation type 3; CCM3; cerebral cavernous malformations 3; familial cerebral cavernous malformation caused by mutation in PDCD10; cerebral cavernous malformations type 3; PDCD10 familial cerebral cavernous malformation
Definition Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the PDCD10 gene.
Disease Hierarchy
DISP72I1: Famililal cerebral cavernous malformations
DISHAV0P: Cerebral cavernous malformation 3
Disease Identifiers
MONDO ID
MONDO_0011305
MESH ID
C566393
UMLS CUI
C1864040
OMIM ID
603285
MedGen ID
355121

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CCM2 OT2I5DOW Strong Genetic Variation [1]
KRIT1 OT58AP1I Strong Genetic Variation [2]
RAP1B OTHEIIMM Strong Biomarker [3]
RAP2A OT0JB5S4 Strong Biomarker [3]
PDCD10 OTCHJTSF Definitive Autosomal dominant [4]
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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 Emerging Pharmacologic Targets in Cerebral Cavernous Malformation and Potential Strategies to Alter the Natural History of a Difficult Disease: A Review.JAMA Neurol. 2019 Apr 1;76(4):492-500. doi: 10.1001/jamaneurol.2018.3634.
3 Sporadic cerebral cavernous malformations: report of further mutations of CCM genes in 40 Italian patients.Biomed Res Int. 2013;2013:459253. doi: 10.1155/2013/459253. Epub 2013 Aug 22.
4 Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations. Am J Hum Genet. 2005 Jan;76(1):42-51. doi: 10.1086/426952. Epub 2004 Nov 12.