ORPHA:329971
Generalized juvenile polyposis/juvenile polyposis coli
Publications
4
17.7th percentile
Trials
2
Interventional, condition-specific
Researchers
50
Distinct authors in sample
Gene link
BMPR1A, SMAD4
Definitive
Readiness
3/6
Stages with a signal
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:0008276
- UMLS:C1868081
Additional Mondo synonyms (1)
generalized juvenile polyposis/juvenile polyposis coli
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, SMAD4
- LiteraturePresent
4 matched papers (4 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, 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?
4
4 papers have ever been indexed 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.
4 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).
4 in the last 10 years · high confidence · 17.7th percentile (publications denominator)
Phrase hits: 4 · MeSH hits: 0
Who's working on it?
50
Distinct author names in 4 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.
- 01Umeno J2 papers · 2023
Department of Medicine and Clinical Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Papers in Europe PMC - 02Akiyama T1 paper · 2023
Department of Pediatric Surgery, Chuden Hospital, Hiroshima, Japan.
Papers in Europe PMC - 03Arai M1 paper · 2023
Department of Clinical Genetics, Juntendo University, Graduate School of Medicine, Tokyo, Japan.
Papers in Europe PMC - 04Benedicenti F1 paper · 2025
Gastroenterology and Digestive Endoscopy Unit, Fondazione IRCCS Istituto Nazionale dei Tumori, Via Venezian 1, 20133 Milan, Italy.
Papers in Europe PMC - 05Borsotti E1 paper · 2025
Gastroenterology and Digestive Endoscopy Unit, Fondazione IRCCS Istituto Nazionale dei Tumori, Via Venezian 1, 20133 Milan, Italy.
Papers in Europe PMC - 06Botti G1 paper · 2022
Scientific Directorate, National Cancer Institute, Istituti di Ricovero e Cura a Carattere Scientifico (IRCCS) "Fondazione G. Pascale," Naples, Italy.
Papers in Europe PMC - 07Calabrese A1 paper · 2022
Division of Breast Surgery, Department of Breast Disease, National Cancer Institute, Istituti di Ricovero e Cura a Carattere Scientifico (IRCCS) "Fondazione G. Pascale," Naples, Italy.
Papers in Europe PMC - 08Cantù P1 paper · 2025
Gastroenterology and Digestive Endoscopy Unit, Fondazione IRCCS Istituto Nazionale dei Tumori, Via Venezian 1, 20133 Milan, Italy.
Papers in Europe PMC - 09Cavalcoli F1 paper · 2025
Gastroenterology and Digestive Endoscopy Unit, Fondazione IRCCS Istituto Nazionale dei Tumori, Via Venezian 1, 20133 Milan, Italy.
Papers in Europe PMC - 10Cini L1 paper · 2025
Gastroenterology and Digestive Endoscopy Unit, Fondazione IRCCS Istituto Nazionale dei Tumori, Via Venezian 1, 20133 Milan, Italy.
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).
high 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
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.
"Generalized juvenile polyposis/juvenile polyposis coli"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Generalized juvenile polyposis/juvenile polyposis coli" OR "BMPR1A"
Recall-expansion terms: BMPR1A
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 · 0 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
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T13:58:19.335Z