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ORPHA:2038

Pulmonary arteriovenous malformation

medium confidenceDisorder

Also known as: PAVM

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

Publications

3,504

95.2th percentile

Trials

2

Interventional, condition-specific

Researchers

1,009

Distinct authors in sample

Gene link

CIAO3

Limited

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

An aberrant communication between one or more pulmonary arteries and one or more pulmonary veins leading to an anatomic intrapulmonary right-to-left shunt.

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 (5)

arteriovenous fistula of pulmonary vessels · pulmonary AV fistula · pulmonary arteriovenous fistula · pulmonary arteriovenous malformation · pulmonary arteriovenous malformation (disease)

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

    Limited — CIAO3

  2. LiteraturePresent

    3,504 matched papers (1,742 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

    2 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?

Possibly — only limited evidence so far for CIAO3.

GenCC classification: Limited.

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?

3,504

3,504 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=5449) is 41.

3,504 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).

1,742 in the last 10 years · medium confidence · 95.2th percentile (publications denominator)

Phrase hits: 3,504 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,009

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
    Ma X5 papers · 2026

    Department of Radiology, Shanghai Pulmonary Hospital, School of Medicine, Tongji University, No. 507 Zhengmin Road, Shanghai, 200433, China.

    Papers in Europe PMC
  2. 02
    Li X4 papers · 2026

    Department of Cardiology, Zhongshan Hospital of Traditional Chinese Medicine, Zhongshan, 528400, Guangdong, China.

    Papers in Europe PMC
  3. 03
    Suzuki T4 papers · 2026

    Department of Respirology, Graduate School of Medicine, Chiba University, Chiba, 260-8670, Japan.

    Papers in Europe PMC
  4. 04
    Chen H3 papers · 2026

    Department of Neurology, University of Maryland Medical Center, Baltimore, MD 21201, USA; Neurosurgery, University of Maryland Medical Center, Baltimore, MD 21201, USA.

    Papers in Europe PMC
  5. 05
    Chen J3 papers · 2026

    Department of Infectious Diseases, The Fifth Affiliated Hospital of Wenzhou Medical University, Lishui Central Hospital, Lishui, 323000, China.

    Papers in Europe PMC
  6. 06
    Chen S3 papers · 2026

    Department of Pediatric Cardiology, Xinhua Hospital, Affiliated to Shanghai Jiao Tong University School of Medicine, 1665 Kongjiang Road, Shanghai 200092, China.

    Papers in Europe PMC
  7. 07
    Hessels J3 papers · 2026

    Department of Pulmonology, St. Antonius Hospital, Nieuwegein, the Netherlands. Electronic address: j.hessels@antoniusziekenhuis.nl.

    Papers in Europe PMC
  8. 08
    Li J3 papers · 2026

    Cardiac Ultrasound Room of Cardiac Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.

    Papers in Europe PMC
  9. 09
    Post MC3 papers · 2026

    Department of Cardiology, University Medical Centre Utrecht, Utrecht, The Netherlands; Department of Cardiology, St. Antonius Hospital, Nieuwegein, the Netherlands.

    Papers in Europe PMC
  10. 10
    Sugiura T3 papers · 2026

    Department of Respiratory Medicine, Graduate School of Medicine, Chiba University, Japan.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

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

Data as of 27 July 2026

2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).

medium confidence · 82.4th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

7 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

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.

"Pulmonary arteriovenous malformation" OR "arteriovenous fistula of pulmonary vessels" OR "arteriovenous fistula of the pulmonary vessels" OR "pulmonary AV fistula" OR "pulmonary arteriovenous fistula" OR "pulmonary arteriovenous malformation (disease)"

Run this search on Europe PMC

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

"Pulmonary arteriovenous malformation" OR "arteriovenous fistula of pulmonary vessels" OR "arteriovenous fistula of the pulmonary vessels" OR "pulmonary AV fistula" OR "pulmonary arteriovenous fistula" OR "pulmonary arteriovenous malformation (disease)" OR "CIAO3"

Recall-expansion terms: CIAO3

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: 2 interventional · 7 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

Synonyms dropped by stoplist: PAVM

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T18:50:56.784Z