cerebral cavernous malformation 2
Findings
No curated finding names cerebral cavernous malformation 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the CCM2 gene.
Definition from the Mondo Disease Ontology (MONDO:0011304), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
1 feature
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cerebral cavernous malformationHPOHP:0033522
- 3 of 3 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CCM2HGNC:21708
- Definitive · ClinGen · Autosomal dominant · 2025
- Definitive · G2P · Autosomal dominant · 2018
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
Where it sits
Other names
6 names
Resolves to: cerebral cavernous malformation 2
- Also called
- CCM2CCM2 familial cerebral cavernous malformationcerebral cavernous malformation type 2cerebral cavernous malformations type 2cerebral cavernous malformations-2familial cerebral cavernous malformation caused by mutation in CCM2