Familial cerebral cavernous malformation

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Familial cerebral cavernous malformation

ORPHA:221061Malformation syndrome

Also called Familial brain cavernous angioma · Familial cerebral cavernoma · Hereditary brain cavernous angioma · Hereditary cerebral cavernoma · Hereditary cerebral cavernous malformation

What it is

A rare, capillary-venous malformations 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.

Key facts

Prevalence
1-5 / 10 000
Age of onset
All ages
Inheritance
Autosomal dominant
Classified as
Malformation syndrome

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Genes

CCM2Disease-causing germline mutation(s) (loss of function)
KRIT1Disease-causing germline mutation(s) (loss of function)
PDCD10Disease-causing germline mutation(s)
PIK3CADisease-causing somatic mutation(s)

ICD-10 codes

Q28.3filed under a broader ICD-10 category — shared with 2 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

GARD 13641MESH C536610MONDO 0031037OMIM 116860OMIM 603284OMIM 603285OMIM 619538UMLS C2931263

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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