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Article

RNF213-Related Vasculopathy: An Entity with Diverse Phenotypic Expressions.

Genes - 7 Aug 2025

Yoshimoto Takeshi, Okune Sho, Tanaka Shun, Yamagami Hiroshi, Matsumaru Yuji

Abstract excerpt

Moyamoya disease (MMD) is primarily associated with genetic variants in RNF213. RNF213 p.R4810K (c.14429G>A, p.Arg4810Lys) is a founder variant predominantly found in East Asian populations and is strongly associated with MMD, a rare cerebrovascular condition characterized by progressive stenosis of intracranial arteries and the development of abnormal collateral networks. Recent evidence suggests that RNF213...

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Source

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Identifiers

PMID: 40869987
DOI: 10.3390/genes16080939
PMCID: PMC12385330

Genes

RNF213
MMD

Variants

Provenance

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