Details of Disease

General Information of Disease (ID: DIS7DG9B)

• Disease Name: Cerebral cavernous malformation 2
• Synonyms: cerebral cavernous malformations 2; cerebral cavernous malformation 2; cerebral cavernous malformation type 2; familial cerebral cavernous malformation caused by mutation in CCM2; cerebral cavernous malformations-2; cerebral cavernous malformations type 2; CCM2; CCM2 familial cerebral cavernous malformation
• Definition: Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the CCM2 gene.
• Disease Hierarchy:
  DISP72I1: Famililal cerebral cavernous malformations
  DIS7DG9B: Cerebral cavernous malformation 2
• Disease Identifiers:
  MONDO ID: MONDO_0011304
  UMLS CUI: C1864041
  OMIM ID: 603284
  MedGen ID: 400438

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KRIT1	OT58AP1I	Strong	Genetic Variation	[1]
PDCD10	OTCHJTSF	Strong	Biomarker	[2]
CCM2	OT2I5DOW	Definitive	Autosomal dominant	[3]

References

• [1] 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.
• [2] 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.
• [3] Large germline deletions and duplication in isolated cerebral cavernous malformation patients. Neurogenetics. 2007 Apr;8(2):149-53. doi: 10.1007/s10048-006-0076-7. Epub 2007 Jan 9.