RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:980

Absence of the pulmonary artery

medium confidenceDisorder

Also known as: Aplasia of pulmonary artery · UAPA · Unilateral Pulmonary Artery Absence · Unilateral pulmonary artery agenesis

Publications

883

81th percentile

Trials

0

Interventional, condition-specific

Researchers

889

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare vascular anomaly characterized by absence of the right or left pulmonary artery, usually ending within 2 cm of its expected origin from the pulmonary trunk. Patients often also have other cardiovascular abnormalities and respective symptoms and are then typically diagnosed in infancy or childhood, while isolated cases generally present with a mild clinical course and may go undiagnosed until adulthood. Presenting clinical features in isolated cases include hemoptysis, exertional dyspnea, and recurrent respiratory infections. The condition is typically accompanied by marked changes of lung tissue and may, if unrecognized, result in massive hemoptysis and pulmonary hypertension.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (6)

agenesis of pulmonary artery · aplasia of pulmonary artery · pulmonary artery absent · pulmonary artery agenesis · unilateral pulmonary artery absence · unilateral pulmonary artery agenesis

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.”

2/6 stages with a signal

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    883 matched papers (406 in last 10 years) Source

  3. Phenotype characterisedPresent

    37 HPO annotations (e.g. Pulmonary arterial hypertension; Exercise intolerance; Recurrent pneumonia) 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 trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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)

37

Associated phenotypes · MONDO:0020007

  • Pulmonary arterial hypertension
  • Exercise intolerance
  • Recurrent pneumonia
  • Patent ductus arteriosus
  • Bronchiectasis

Showing 5 of 37 — 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?

883

883 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.

883 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).

406 in the last 10 years · medium confidence · 81th percentile (publications denominator)

Phrase hits: 883 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

889

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

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Kumar S4 papers · 2023

    Department of Cardiology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226014, India. sudeep@sgpgi.ac.in

    Papers in Europe PMC
  2. 02
    Gangopadhyay D2 papers · 2025

    Department of Pediatric Cardiology, Rabindranath Tagore International Institute of Cardiac Sciences, Kolkata, West Bengal, India.

    Papers in Europe PMC
  3. 03
    Kobayashi K2 papers · 2025

    Department of Cardiac Surgery, Daiyukai General Hospital, Ichinomiya, Aichi, Japan.

    Papers in Europe PMC
  4. 04
    Mehta K2 papers · 2023

    Nepalgunj Medical College, Nepalgunj Banke, Nepal.

    Papers in Europe PMC
  5. 05
    Miyoshi K2 papers · 2026

    Department of General Thoracic Surgery and Breast and Endocrinological Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Okayama, Japan.

    Papers in Europe PMC
  6. 06
    Okazaki M2 papers · 2026

    Department of General Thoracic Surgery and Breast and Endocrinological Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Okayama, Japan.

    Papers in Europe PMC
  7. 07
    Raymond A2 papers · 2018

    Paediatrics & Neonatology Unit, "Guglielmo da Saliceto" City Hospital, Cantone del Cristo, 50, 29121, Piacenza, Italy.

    Papers in Europe PMC
  8. 08
    Redmond KC2 papers · 2017

    Professor Eoin O'Malley National Cardiothoracic & Transplant Unit, Mater Misericordiae University Hospital, Eccles Street, Dublin 7, Ireland.

    Papers in Europe PMC
  9. 09
    Roy M2 papers · 2025

    Department of Pediatric Cardiology, Rabindranath Tagore International Institute of Cardiac Sciences, Kolkata, West Bengal, India.

    Papers in Europe PMC
  10. 10
    Saedi S2 papers · 2024

    Rajaie Cardiovascular Medical and Research Center Iran University of Medical Sciences Tehran Iran.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

medium confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 38 · after dedupe 38 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 38 · 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 (38)

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 Absence of the pulmonary artery — 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.

"Absence of the pulmonary artery" OR "Absence of pulmonary artery" OR "Aplasia of pulmonary artery" OR "Aplasia of the pulmonary artery" OR "Unilateral Pulmonary Artery Absence" OR "Unilateral pulmonary artery agenesis" OR "agenesis of pulmonary artery" OR "agenesis of the pulmonary artery" OR "pulmonary artery absent" OR "pulmonary artery agenesis"

Run this search on Europe PMC

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

"Absence of the pulmonary artery" OR "Absence of pulmonary artery" OR "Aplasia of pulmonary artery" OR "Aplasia of the pulmonary artery" OR "Unilateral Pulmonary Artery Absence" OR "Unilateral pulmonary artery agenesis" OR "agenesis of pulmonary artery" OR "agenesis of the pulmonary artery" OR "pulmonary artery absent" OR "pulmonary artery agenesis"

Study-type breakdown: 0 interventional · 0 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: UAPA

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 2026-07-26T16:05:34.934Z