ORPHA:99083
Pulmonary artery hypoplasia
Also known as: PAH · Unilateral Pulmonary Artery Hypoplasia
Publications
422
80.8th percentile
Trials
0
Interventional, condition-specific
Researchers
1,222
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare, anomaly of the great arteries characterized by various clinical signs and symptoms, including shortness of breath, recurrent lower respiratory tract infections, lung hypoplasia, pulmonary hypertension, and haemoptysis. The anomaly can be isolated or associated with heart disease, such as tetralogy of Fallot, atrial septal defect, coarctation of the aorta, right aortic arch, truncus arteriosus, patent ductus arteriosus and pulmonary atresia.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0020419
- UMLS:C0265910
Additional Mondo synonyms (2)
pulmonary artery hypoplasia · pulmonary artery hypoplasia (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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
422 matched papers (231 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
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?
422
422 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
422 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).
231 in the last 10 years · medium confidence · 80.8th percentile (publications denominator)
Phrase hits: 422 · MeSH hits: 0
Who's working on it?
1,222
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.
- 01Bhende VV3 papers · 2025
Pediatric Cardiac Surgery, Bhanubhai and Madhuben Patel Cardiac Centre, Shree Krishna Hospital, Anand, IND.
Papers in Europe PMC - 02Gewillig M3 papers · 2026
Division of Pediatric Cardiology, Department of Cardiovascular Sciences, University Hospitals Leuven, KU Leuven, Leuven, Belgium.
Papers in Europe PMC - 03Bo I2 papers · 2026
Division of Paediatric Cardiology, Royal Brompton Hospital, London, United Kingdom.
Papers in Europe PMC - 04Callahan R2 papers · 2025
Department of Cardiology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Papers in Europe PMC - 05Chai PJ2 papers · 2023
Department of Surgery, Columbia University Medical Center, New York, New York. Electronic address: pjc2164@cumc.columbia.edu.
Papers in Europe PMC - 06d'Udekem Y2 papers · 2022
Department of Cardiac Surgery, The Royal Children's Hospital, Melbourne, Victoria, Australia; Department of Paediatrics of the University of Melbourne, Melbourne, Victoria, Australia; Murdoch Childrens Research Institute, Parkville, Victoria, Australia. Electronic address: yves.dudekem@rch.org.au.
Papers in Europe PMC - 07Glatz AC2 papers · 2025
Division of Cardiology, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, Missouri, USA.
Papers in Europe PMC - 08Goldstein BH2 papers · 2023
Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA; University of Pittsburgh School of Medicine, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Papers in Europe PMC - 09He Y2 papers · 2026
Department of Respiratory and Critical Care Medicine, Ningbo Medical Center Lihuili Hospital, Ningbo, China.
Papers in Europe PMC - 10Hoashi T2 papers · 2026
Department of Pediatric Cardiac Surgery, Saitama Medical University International Medical Center, Hidaka, Saitama, 350-1298, Japan. thoashi@saitama-med.ac.jp.
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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th 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.
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 2026-07-26This 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 artery hypoplasia" OR "Unilateral Pulmonary Artery Hypoplasia" OR "pulmonary artery hypoplasia (disease)"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Pulmonary artery hypoplasia" OR "Unilateral Pulmonary Artery Hypoplasia" OR "pulmonary artery hypoplasia (disease)"
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: PAH
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 2026-07-27T05:59:32.239Z