Disorder "Moyamoya Disease"
Found 1 record
Disorder information
Disorder name:
Moyamoya Disease 
Disoder ID:
OMIM entry:
Synonyms:
progressive intracranial arterial occlusion 
Definition:
A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots. 
Modifier statisitcs
Record:
Gene:
Variant:
Reference:
Effect type:
Expressivity(1)  
Modifier effect:
Altered severity(1)  
Modifier gene Variant Effect type Modifier effect Evidence Effect PubMed ID
RNF213 RNF213:c.14429G>A(p.Arg4810Lys) Expressivity  Altered severity  From clinical report  The RNF213 risk variant has a modifier effect in steno-occlusive vasculopathymore more
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