Moyamoya disease
Findings
No curated finding names Moyamoya disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Moyamoya disease (MMD) is a rare intracranial arteriopathy involving progressive stenosis of the cerebral vasculature located at the base of the brain causing transient ischemic attacks or strokes.
Definition from the Mondo Disease Ontology (MONDO:0016820), read 2026-09-29. CC BY 4.0.
Features
5 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.
- TelangiectasiaHPOHP:0001009
- Very frequent (80% to 99% of cases)
- Abnormal cerebral vascular morphologyHPOHP:0100659
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
- VentriculomegalyHPOHP:0002119
- Frequent (30% to 79% of cases)
Genes
4 genes
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.
- SAMHD1HGNC:15925
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- NF1HGNC:7765
- Moderate · Genomics England PanelApp · Autosomal dominant · 2021
- PCNTHGNC:16068
- Moderate · Genomics England PanelApp · Autosomal recessive · 2021
- BRCC3HGNC:24185
- Limited · Ambry Genetics · Autosomal dominant · 2018
- Limited · Ambry Genetics · X-linked · 2025
Where it sits
Other names
2 names
Resolves to: Moyamoya disease
- Also called
- idiopathic Moyamoya diseaseprogressive intracranial arterial occlusion