Moyamoya disease 2
MONDO:0011784Mondo
Findings
No curated finding names Moyamoya disease 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Moyamoya disease in which the cause of the disease is a mutation in the RNF213 gene.
Definition from the Mondo Disease Ontology (MONDO:0011784), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
2 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Moyamoya phenomenonHPOHP:0011834
- 4 of 4 reported patients · Juvenile onset
- Transient ischemic attackHPOHP:0002326
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- RNF213HGNC:14539
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · G2P · Autosomal dominant · 2026
Where it sits
- A kind of
Other names
4 names
Resolves to: Moyamoya disease 2
- Also called
- moyamoya disease 2, susceptibility toMoyamoya disease caused by mutation in RNF213Moyamoya disease type 2RNF213 Moyamoya disease