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ORPHA:2038

Pulmonary arteriovenous malformation

medium confidenceDisorder

Also known as: PAVM

Publications

3,551

90.1th percentile

Trials

2

Interventional, condition-specific

Researchers

1,009

Distinct authors in sample

Gene link

CIAO3

Limited

Readiness

4/6

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.”

4/6 stages with a signal

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

  1. Gene identifiedPresent

    Limited — CIAO3

  2. LiteraturePresent

    3,551 matched papers (1,782 in last 10 years) Source

  3. Phenotype characterisedPresent

    32 HPO annotations (e.g. Pulmonary arteriovenous fistulas; Clubbing of fingers; Cyanosis) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

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

  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)

32

Associated phenotypes · MONDO:0009930

  • Pulmonary arteriovenous fistulas
  • Clubbing of fingers
  • Cyanosis
  • Clubbing of toes
  • Telangiectasia

Showing 5 of 32 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

3,551

3,551 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.

3,551 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).

1,782 in the last 10 years · medium confidence · 90.1th 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 11 September 2026 · last trial check 28 July 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

medium confidence · 84.5th 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

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 6 · after dedupe 6 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 6 · 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 (6)

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 Pulmonary arteriovenous malformation — 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.

("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" OR "CIAO3 syndrome" OR "CIAO3-related")

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)"

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: ok — strategies attempted: phrase; 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