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GENATLAS PHENOTYPE

last update : 27-04-2021

Symbol	CCM4
Location	17q23.3
Name	cerebral cavernous malformations 4
Corresponding gene	MAP3K3
Main clinical features	vascular dysplasia characterized by clusters of dilated capillaries and veins, leading to epileptic seizures, hemorrhagic strokes, headaches, or focal neurological deficits
Genetic determination	not applicable
Function/system disorder	neurology
	cardiovascular
Type	disease

Remark(s)

. somatic mutation (c.1323C>G [p.Ile441Met]) is detected in 37 p100 of the simplex CCM-affected individuals ( in 95.7p100 of the popcorn-like lesions but only 2.5 p100 of the subacute-bleeding or multifocal lesions)(PMID: 33891857))