cerebral cavernous malformation 3
Findings
No curated finding names cerebral cavernous malformation 3 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 PDCD10 gene.
Definition from the Mondo Disease Ontology (MONDO:0011305), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
4 features
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.
- HeadacheHPOHP:0002315
- Frequent (30% to 79% of cases)
- Cerebral hemorrhageHPOHP:0001342
- 15 of 28 reported patients
- SeizureHPOHP:0001250
- 10 of 28 reported patients
- Cerebral cavernous malformationHPOHP:0033522
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.
- PDCD10HGNC:8761
- Definitive · G2P · Autosomal dominant · 2022
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
7 names
Resolves to: cerebral cavernous malformation 3
- Also called
- CCM3cerebral cavernous malformation type 3cerebral cavernous malformations 3cerebral cavernous malformations type 3cerebral cavernous malformations-3familial cerebral cavernous malformation caused by mutation in PDCD10PDCD10 familial cerebral cavernous malformation