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ORPHA:46724

Brain arteriovenous malformation, nidus type

high confidenceDisorder

Also known as: Cerebral arteriovenous malformation

Publications

2,549

87.7th percentile

Trials

3

Interventional, condition-specific

Researchers

1,131

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Cerebral arteriovenous (AVM) is a malformative communication between the veins and the arteries in the brain in the form of a nidus, an anatomical structure composed of dilated and tangled supplying arterioles and drainage veins with no intervening capillary bed, that can be asymptomatic or cause, depending on the location and the size of the AVM, headaches of varying severity, generalized or focal , focalneurological defects (weakness, numbness, speech difficulties, vision loss) or potentially fatal intracranial hemorrhage in case the AVM ruptures.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (6)

arteriovenous malformation of the brain, somatic · arteriovenous malformations of the brain · cerebral arteriovenous malformation · intracranial arteriovenous malformation · intracranial haemorrhage in brain cerebrovascular malformations, susceptibility to, somatic mutation · intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to, somatic mutation

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.”

4/6 stages with a signal

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

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    2,549 matched papers (1,095 in last 10 years) Source

  3. Phenotype characterisedPresent

    12 HPO annotations (e.g. Cerebral arteriovenous malformation; Abnormal cerebral vascular morphology; Cerebral hemorrhage) Source

  4. Animal modelPresent

    12 genotype models (Danio rerio, Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    3 matched on ClinicalTrials.gov (1 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

12

Associated phenotypes · MONDO:0007154

  • Cerebral arteriovenous malformation
  • Abnormal cerebral vascular morphology
  • Cerebral hemorrhage
  • Memory impairment
  • Visceral angiomatosis

Showing 5 of 12 — open Monarch for the full list.

Animal models (Monarch / Alliance)

12

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

3

Drugs / clinical candidates · MONDO_0007154

CTD chemicals (MyDisease.info)

2 associated chemicals · 215 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Enbucrilate · therapeutic
  • Carbamazepine · marker/mechanism

Pathways: EGFR tyrosine kinase inhibitor resistance; Endocrine resistance; Antifolate resistance; MAPK signaling pathway; ErbB signaling pathway; Ras signaling pathway; Rap1 signaling pathway; Cytokine-cytokine receptor interaction

MyDisease.info · MONDO:0007154

Literature

Is anyone studying this?

2,549

2,549 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

2,549 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

1,095 in the last 10 years · high confidence · 87.7th percentile (publications denominator)

Phrase hits: 2,549 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,131

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
    Zhao Y12 papers · 2026

    Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China. Electronic address: zhaoyuanli@126.com.

    Papers in Europe PMC
  2. 02
    Li R11 papers · 2026

    Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.

    Papers in Europe PMC
  3. 03
    Chen X10 papers · 2026

    Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China. Electronic address: chenxiaolin@bjtth.org.

    Papers in Europe PMC
  4. 04
    Chen Y10 papers · 2026

    Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.

    Papers in Europe PMC
  5. 05
    Zhang H10 papers · 2026

    Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.

    Papers in Europe PMC
  6. 06
    Li Z9 papers · 2026

    Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.

    Papers in Europe PMC
  7. 07
    Li Y7 papers · 2026

    Department of Cerebrovascular Surgery, Saitama Medical University International Medical Center, Hidaka-shi, Saitama, Japan.

    Papers in Europe PMC
  8. 08
    Ma L7 papers · 2026

    Department of Neurosurgery, General Hospital of Central Theater Command, Wuhan, China.

    Papers in Europe PMC
  9. 09
    Wang C7 papers · 2026

    Neurovascular Center, Changhai Hospital, Naval Medical University, Shanghai, China.

    Papers in Europe PMC
  10. 10
    Wang H7 papers · 2026

    Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

3

interventional trials for this specific condition

3 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 11 September 2026

3 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 86.7th percentile).

high confidence · 86.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

12 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

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 73 · after dedupe 72 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 72 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (72)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Brain arteriovenous malformation, nidus type — check Associations / patient organisations on that page.

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.

"Brain arteriovenous malformation, nidus type" OR "Cerebral arteriovenous malformation" OR "arteriovenous malformation of the brain, somatic" OR "arteriovenous malformation of brain, somatic" OR "arteriovenous malformations of the brain" OR "arteriovenous malformations of brain" OR "intracranial arteriovenous malformation" OR "intracranial haemorrhage in brain cerebrovascular malformations, susceptibility to, somatic mutation" OR "intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to, somatic mutation"

Run this search on Europe PMC

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

"Brain arteriovenous malformation, nidus type" OR "Cerebral arteriovenous malformation" OR "arteriovenous malformation of the brain, somatic" OR "arteriovenous malformation of brain, somatic" OR "arteriovenous malformations of the brain" OR "arteriovenous malformations of brain" OR "intracranial arteriovenous malformation" OR "intracranial haemorrhage in brain cerebrovascular malformations, susceptibility to, somatic mutation" OR "intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to, somatic mutation"

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: 3 interventional · 12 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T00:11:40.508Z