Moyamoya disease

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Moyamoya disease

ORPHA:2573Disease

Also called Idiopathic Moyamoya disease

What it is

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.

Key facts

Prevalence
1-9 / 100 000 (China)
Age of onset
All ages
Inheritance
Autosomal dominant, Autosomal recessive, Multigenic/multifactorial, X-linked recessive
Classified as
Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Genes

ACTA2Major susceptibility factor
ANO1Major susceptibility factor
DIAPH1Disease-causing germline mutation(s)
RNF213Major susceptibility factor

ICD-10 codes

I67.5ICD-10 names this disease exactly

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

GARD 7064MEDDRA 10028047MESH D009072MONDO 0016820OMIM 252350OMIM 607151OMIM 608796OMIM 614042OMIM 620687OMIM 621469UMLS C0026654

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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