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ORPHA:2573

Moyamoya disease

medium confidenceDisorder

Also known as: Idiopathic Moyamoya disease

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

10,428

98th percentile

Trials

28

Interventional, condition-specific

Researchers

1,115

Distinct authors in sample

Gene link

BRCC3, NF1, PCNT

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Moyamoya disease (MMD) is a rare intracranial arteriopathy involving stenosis of the cerebral vasculature located at the base of the brain causing transient ischemic attacks or strokes.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (2)

idiopathic Moyamoya disease · progressive intracranial arterial occlusion

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Strong — BRCC3, NF1, PCNT, SAMHD1

  2. LiteraturePresent

    10,428 matched papers (6,465 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    28 matched on ClinicalTrials.gov (10 recruiting in sample)

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (BRCC3, NF1, PCNT…).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

10,428

10,428 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

10,428 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

6,465 in the last 10 years · medium confidence · 98th percentile (publications denominator)

Phrase hits: 10,428 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,115

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Chen Y9 papers · 2026

    The First College of Clinical Medical Science, China Three Gorges University, Yichang Central People's Hospital, 443003, Yichang, Hubei, China.

    Papers in Europe PMC
  2. 02
    Wang R7 papers · 2026

    Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China. ronger090614@126.com.

    Papers in Europe PMC
  3. 03
    Zhao Y7 papers · 2026

    Department of Neurosurgery, Peking University International Hospital, Beijing, China. zhaoyuanli@126.com.

    Papers in Europe PMC
  4. 04
    Chen H6 papers · 2026

    Department of Radiology, Nanjing First Hospital, Nanjing Medical University, Nanjing, China.

    Papers in Europe PMC
  5. 05
    Fujimura M6 papers · 2026

    Department of Neurosurgery, Hokkaido University Graduate School of Medicine, Sapporo, Japan.

    Papers in Europe PMC
  6. 06
    Funaki T6 papers · 2026

    Department of Neurosurgery, Kyoto University Graduate School of Medicine, Kyoto, Japan.

    Papers in Europe PMC
  7. 07
    Duan L5 papers · 2026

    Department of Neurosurgery, the First Medical Centre, Chinese PLA General Hospital, Beijing, China.

    Papers in Europe PMC
  8. 08
    Lee S5 papers · 2026

    Department of Neurology, Stanford University, Palo Alto, California.

    Papers in Europe PMC
  9. 09
    Li C5 papers · 2026

    Department of Ophthalmology, Kunming Children's Hospital, Kunming, China.

    Papers in Europe PMC
  10. 10
    Liu Z5 papers · 2026

    Department of Ophthalmology, Kunming Children's Hospital, Kunming, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

28

interventional trials for this specific condition

28 interventional trials matched this specific condition name; 10 currently recruiting in our sample.

Data as of 27 July 2026

28 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 95.5th percentile).

medium confidence · 95.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

28 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

22 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

General rare disease registries you may be eligible for

These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"Moyamoya disease" OR "Idiopathic Moyamoya disease" OR "progressive intracranial arterial occlusion"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Moyamoya disease" OR "Idiopathic Moyamoya disease" OR "progressive intracranial arterial occlusion" OR "BRCC3" OR "PCNT" OR "SAMHD1"

Recall-expansion terms: BRCC3, PCNT, SAMHD1

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 28 interventional · 22 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T20:33:48.827Z