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:
1
Gene:
1
Variant:
1
Reference:
1
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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