famililal cerebral cavernous malformations
Findings
No curated finding names famililal cerebral cavernous malformations yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare evolutive vascular malformation disorder characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages.
Definition from the Mondo Disease Ontology (MONDO:0031037), read 2026-09-29. CC BY 4.0.
Features
25 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.
- Cerebral cavernous malformationHPOHP:0033522
- Obligate (100% of cases)
- Cerebral hemorrhageHPOHP:0001342
- Very frequent (80% to 99% of cases)
- HeadacheHPOHP:0002315
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
- Cavernous hemangiomaHPOHP:0001048
- Frequent (30% to 79% of cases)
- Focal T2 hyperintense brainstem lesionHPOHP:0012748
- Frequent (30% to 79% of cases)
- Focal T2 hypointense brainstem lesion
Show the remaining 13
- ParesthesiaHPOHP:0003401
- Frequent (30% to 79% of cases)
- ScoliosisHPOHP:0002650
- Frequent (30% to 79% of cases)
- Choroidal hemangiomaHPOHP:0007872
- Occasional (5% to 29% of cases)
- Cognitive impairmentHPOHP:0100543
- Occasional (5% to 29% of cases)
- Episodic vomitingHPOHP:0002572
- Occasional (5% to 29% of cases)
- Retinal cavernous hemangiomaHPOHP:0011513
- Occasional (5% to 29% of cases)
Genes
3 genes
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.
Where it sits
Other names
8 names
Resolves to: famililal cerebral cavernous malformations
- Also called
- familial brain cavernous angiomafamilial brain cavernous hemangiomafamilial cerebral cavernomafamilial cerebral cavernous malformationhereditary brain cavernous angiomahereditary brain cavernous hemangiomahereditary cerebral cavernomahereditary cerebral cavernous malformation