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GENATLAS PHENOTYPE

last update : 12-05-2015

Symbol	MYMY2
Location	17q25.3
Name	Moyamoya disease, susceptibility 2
Corresponding gene	RNF213
Main clinical features	progressive cerebral angiopathy characterized by bilateral internal carotid artery stenosis and abnormal collateral vessels, with transient ischemic attacks and/or cerebral infarction, and rupture of the collateral vessels can cause intracranial hemorrhage bilateral stenosis and/or occlusion of the terminal portion of the internal carotid artery, presenting in young patients with transient motor disturbances and in adult with intracranial hemorrhage
Genetic determination	not applicable
Function/system disorder	cardiovascular
Type	susceptibility factor

Remark(s)

association between disease and a variant in the RNF213 gene sequestration of MAD2L1 by RNF213 R4810K during mitosis., and resultant defects including mitotic abnormalities were considered to increase genomic instability and thus be risk factors for MYMY2