ORPHA:2929
Juvenile polyposis syndrome
Also known as: JIP · JPS · Juvenile gastrointestinal polyposis · Juvenile intestinal polyposis
Publications
2,949
Trials
2
Interventional, condition-specific
Researchers
1,230
Distinct authors in sample
Gene link
BMPR1A, ENG, SMAD4
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare inherited cancer-predisposing syndrome characterized by the presence of juvenile hamartomatous polyps in the gastrointestinal (GI) tract.
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:0017380
- OMIM:174900
- UMLS:C0345893
- NCIT:C7754
Additional Mondo synonyms (7)
jPS · juvenile gastrointestinal polyposis · juvenile intestinal polyposis · juvenile multiple polyps syndrome · juvenile polyposis · juvenile polyposis syndrome · polyposis, juvenile intestinal
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.
- Gene identifiedPresent
Definitive — BMPR1A, ENG, SMAD4
- LiteraturePresent
2,949 matched papers (1,468 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
2 matched on ClinicalTrials.gov (2 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?
Yes — we know a specific gene responsible (BMPR1A, ENG, SMAD4).
GenCC classification: Definitive.
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?
2,949
2,949 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.
2,949 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).
1,468 in the last 10 years · low confidence
Phrase hits: 2,949 · MeSH hits: 0
Who's working on it?
1,230
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.
- 01Burke CA7 papers · 2025
Department of Gastroenterology and Hepatology, Cleveland Clinic, Cleveland, Ohio, USA.
Papers in Europe PMC - 02Durno C6 papers · 2026
The Zane Cohen Centre for Digestive Diseases, Mount Sinai Hospital, Toronto, Ontario, Canada.
Papers in Europe PMC - 03Jelsig AM6 papers · 2024
Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark Anne.Marie.Jelsig@regionh.dk.
Papers in Europe PMC - 04Karstensen JG6 papers · 2024
Danish Polyposis Registry, Gastro Unit, Hvidovre Hospital, Hvidovre, Denmark.
Papers in Europe PMC - 05Ishida H5 papers · 2026
Department of Digestive Tract and General Surgery, Saitama Medical Center, Saitama Medical University, Kawagoe, Japan.
Papers in Europe PMC - 06MacFarland SP5 papers · 2026
Department of Pediatrics, Division of Oncology, Children's Hospital of Philadelphia;, University of Pennsylvania, Philadelphia, Pennsylvania
Papers in Europe PMC - 07Anderson JC4 papers · 2026
Department of Medicine, University of Connecticut, Farmington, Connecticut, USA.
Papers in Europe PMC - 08Gupta S4 papers · 2025
Veterans Affairs Medical Center, San Diego, California, USA.
Papers in Europe PMC - 09Iraqi FA4 papers · 2026
Department of Clinical Microbiology and Immunology, Faculty of Medicine and Health Sciences, Tel-Aviv University, Tel Aviv 6997801, Israel.
Papers in Europe PMC - 10Latchford A4 papers · 2025
The St Mark's Centre for Familial Intestinal Cancer, St Mark's Hospital, London North West University Healthcare NHS Trust, London, UK.
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; 2 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).
low 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.
- NCT06712095·RECRUITING·Video Capsule Examination in Patients With Lynch Syndrome
Conditions: Lynch Syndrome · Li Fraumeni Syndrome · PTEN Hamartoma Syndrome · FAP·Matched via recall expansion
- NCT05420064·RECRUITING·An Intervention to Increase Genetic Testing in Families Who May Share a Gene Mutation Related to Cancer Risk and An Intervention to Help Patients and Their Primary Care Providers Stay Up-to-date About Uncertain Genetic Test Results
Conditions: BRCA1 Mutation · POLD1 Gene Mutation · CDKN2A Mutation · BRCA2 Mutation·Matched via recall expansion
Observational and natural-history studies
2 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
- NCT03050268·RECRUITING·Familial Investigations of Childhood Cancer Predisposition
Conditions: Acute Leukemia · Adenomatous Polyposis · Adrenocortical Carcinoma · AML·Matched via name phrase
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.
"Juvenile polyposis syndrome" OR "Juvenile gastrointestinal polyposis" OR "Juvenile intestinal polyposis" OR "juvenile multiple polyps syndrome" OR "juvenile polyposis" OR "polyposis, juvenile intestinal"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Juvenile polyposis syndrome" OR "Juvenile gastrointestinal polyposis" OR "Juvenile intestinal polyposis" OR "juvenile multiple polyps syndrome" OR "juvenile polyposis" OR "polyposis, juvenile intestinal" OR "BMPR1A" OR "ENG"
Recall-expansion terms: BMPR1A, ENG
Interventional trials matched via: recall-expansion (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 · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: JIP; JPS
Confidence reasoning
- Preferred label is multi-word and distinctive
- 2 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
- Publication count (2949) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-26T21:42:14.301Z