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Hereditary cerebral cavernous malformation
3 OMIM references -
3 associated genes
33 connected diseases
No signs/symptoms info
Disease Type of connection
Fibronectin glomerulopathy
Autoimmune lymphoproliferative syndrome
Juvenile rheumatoid factor-negative polyarthritis
Oligoarticular juvenile arthritis
Adult-onset distal myopathy due to VCP mutation
Amyotrophic lateral sclerosis
B-cell chronic lymphocytic leukemia
Behavioral variant of frontotemporal dementia
Charcot-Marie-Tooth disease type 4G
Early infantile epileptic encephalopathy
Familial cortical myoclonus
Familial isolated dilated cardiomyopathy
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Malignant migrating partial seizures of infancy
Non-spherocytic hemolytic anemia due to hexokinase deficiency
Progressive non-fluent aphasia
Sandhoff disease, adult form
Sandhoff disease, infantile form
Sandhoff disease, juvenile form
Semantic dementia
Spastic paraplegia - Paget disease of bone
Tay-Sachs disease, B variant, adult form
Tay-Sachs disease, B variant, infantile form
Tay-Sachs disease, B variant, juvenile form
Tay-Sachs disease, B1 variant
Autosomal dominant Charcot-Marie-Tooth disease type 2C
Autosomal dominant brachyolmia
Autosomal dominant congenital benign spinal muscular atrophy
Familial digital arthropathy-brachydactyly
Metatropic dysplasia
Parastremmatic dwarfism
Spondyloepiphyseal dysplasia, Maroteaux type
Spondylometaphyseal dysplasia, Kozlowski type
- Familial brain cavernous angioma
- Familial brain cavernous hemangioma
- Familial cerebral cavernoma
- Familial cerebral cavernous malformation
- Hereditary brain cavernous angioma
- Hereditary brain cavernous hemangioma
- Hereditary cerebral cavernoma

Classification (Orphanet):
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
3 OMIM references -
No MeSH references

Gene symbol UniProt reference OMIM reference
CCM2 Q9BSQ5607929
KRIT1 O00522604214
PDCD10 Q9BUL8609118
No signs/symptoms info available.