Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 02-02-2010
Symbol CCM1
Location 7q21.2
Name cerebral cavernous malformation 1
Corresponding gene KRIT1
Other symbol(s) CAF, CCM
Main clinical features
  • focal abnormalities in small intracranial blood vessels, presenting most often between the third and fifth decade of life with intracerebral hemorrhagic strokes, which may be fatal, intractable seizures, recurrent headaches and focal neurological defects, asymptomatic in 70/80% of affected individuals, treatment ranges from therapy with antiepileptic drugs to surgical excision of accessible lesions
  • disease associated with defective endothelial junctions
    • Genetic determination autosomal dominant
    Related entries . including hyperkeratotic cutaneous capillary-venous malformation, associated with cerebral capillary malformation.
    Function/system disorder cardiovascular
    neurology
    Type disease
    Gene product
    Name ankyrin repeat-containing protein
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    unknown   truncated protein  
    Remark(s)