ORPHA:99084
Peripheral pulmonary stenosis
Also known as: Branch pulmonary artery stenosis · Pulmonary branch stenosis
Publications
1,172
Trials
1
Interventional, condition-specific
Researchers
1,174
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Peripheral pulmonary stenosis is a rare anomaly of the great arteries that may occur at single or multiple sites, in isolation or in association with other heart defects (valvular pulmonary stenosis, atrial, or ventricular septal defects or tetralogy of Fallot) and genetic syndromes (Williams, Alagile syndrome). Clinical presentation is variable and includes heart murmurs, dyspnea, syncope, chest pain and pulmonary hypertension-associated symptoms.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0020420
- UMLS:C3531782
- NCIT:C99144
Additional Mondo synonyms (2)
branch pulmonary artery stenosis · pulmonary artery stenosis, branch (not PPS)
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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
1,172 matched papers (571 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 trialPresent
1 matched on ClinicalTrials.gov
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?
1,172
1,172 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.
1,172 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).
571 in the last 10 years · low confidence
Phrase hits: 1,172 · MeSH hits: 0
Who's working on it?
1,174
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.
- 01Lamers L4 papers · 2022
Pediatrics, Division of Cardiology, University of Wisconsin - Madison, Madison, WI, USA.
Papers in Europe PMC - 02Pewowaruk R4 papers · 2022
Biomedical Engineering, University of Wisconsin - Madison, Madison, WI, USA.
Papers in Europe PMC - 03Roldán-Alzate A4 papers · 2022
Biomedical Engineering, University of Wisconsin - Madison, Madison, WI, USA. roldan@wisc.edu.
Papers in Europe PMC - 04Zhang X4 papers · 2025
Department of Cardiac Surgery, Zhejiang University Sir Run Run Shaw Hospital, Zhejiang, China. drzhangxiaojie@zju.edu.cn.
Papers in Europe PMC - 05Alwi M3 papers · 2023
Department of Pediatric Cardiology, Institut Jantung Negara (National Heart Institute) 50400 Kuala Lumpur, Malaysia.
Papers in Europe PMC - 06Çiçek M3 papers · 2025
Department of Pediatric Cardiovascular Surgery, University of Health Sciences Dr. Siyami Ersek Thoracic and Cardiovascular Surgery Training and Research Hospital, Istanbul, Turkey.
Papers in Europe PMC - 07Hekim Yılmaz E3 papers · 2025
Department of Pediatric Cardiology, University of Health Sciences Dr. Siyami Ersek Thoracic and Cardiovascular Surgery Training and Research Hospital, Istanbul, Turkey.
Papers in Europe PMC - 08Hiremath G3 papers · 2024
Department of Pediatrics, Masonic Children's Hospital, University of Minnesota, Minneapolis, Minnesota. Electronic address: hiremath@umn.edu.
Papers in Europe PMC - 09Huang Y3 papers · 2024
Department of Cardiovascular Pediatrics, Guangdong Cardiovascular Institute, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, 510080, P.R. China.
Papers in Europe PMC - 10Korun O3 papers · 2025
Department of Pediatric Cardiovascular Surgery, University of Health Sciences Dr. Siyami Ersek Thoracic and Cardiovascular Surgery Training and Research Hospital, Istanbul, Turkey.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
low confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same 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 2026-07-26This 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.
"Peripheral pulmonary stenosis" OR "Branch pulmonary artery stenosis" OR "Pulmonary branch stenosis" OR "pulmonary artery stenosis, branch (not PPS)"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Peripheral pulmonary stenosis" OR "Branch pulmonary artery stenosis" OR "Pulmonary branch stenosis" OR "pulmonary artery stenosis, branch (not PPS)"
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: 1 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
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (1172) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-27T05:59:42.541Z