Trait

Cerebral cavernous malformation

A cerebral cavernous malformation (also known as cavernoma, cavernous angioma, cavernous hemangioma) is a collection of structurally abnormal slow-flow capillaries predominantly in the central nervous system. These are multiple mulberry-like distended caverns of dilated thin-walled capillaries without the normal intervening brain parenchymal architecture. Often, individual cavernomas are surrounded by hemosiderin representing remote oozing due to the abnormal capillaries.

HPO HP:0033522

Body system: Abnormality of the cardiovascular system Abnormality of the nervous system Abnormal tissue mass

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6 genes linked to Cerebral cavernous malformation

Changes in these genes cause rare conditions in which Cerebral cavernous malformation is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

Gene	How often it is seen	Conditions
CCM2CCM2 scaffold protein	Always	In 3 conditions
KRIT1KRIT1 ankyrin repeat containing	Always	In 2 conditions
MAP3K3mitogen-activated protein kinase kinase kinase 3	Always	In 1 condition
PDCD10programmed cell death 10	Always	In 3 conditions
PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	Always	In 2 conditions
ATP2B1ATPase plasma membrane Ca2+ transporting 1	Sometimes (5–29%)	In 1 condition

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Broader traits

Abnormality of the cerebral blood vessels Collection of dilated blood vessels that forms mass

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
Data release 2026.10.16-c6eea6bf.

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