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An autosomal dominant disorder caused by pathogenic variants in the BMPR1A gene characterized by gastrointestinal juvenile polyps and a predisposition to gastrointestinal cancer.
Diagnosis
Biomarker and diagnostic research for BMPR1A-related juvenile polyposis syndrome has been reported in the published literature.
Research Landscape
Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.
No clinical trials have been registered for BMPR1A-related juvenile polyposis syndrome.
53 publications have been identified in PubMed for BMPR1A-related juvenile polyposis syndrome. Research spans Case Report / Case Series (38%), Review / Meta-Analysis (17%), and Epidemiology / Natural History (15%).
Research Type
Count
% of Total
Patient case studies
20
38%
Data assembled from 2 of 12 sources · Last updated Sep 19, 2026, 11:59 PM UTC
Diseases are connected by shared genes, phenotypes, therapeutic targets, and MONDO disease hierarchy. The Rare badge reflects Kisho's rarity classification — scored from authoritative sources including OMIM, Orphanet, orphan drug designations, clinical trial activity, and published prevalence data.
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FAQ
Frequently Asked Questions
Common questions about BMPR1A-related juvenile polyposis syndrome
BMPR1A-related juvenile polyposis syndrome is an inherited disorder caused by changes in the BMPR1A gene. This condition is passed down in an autosomal dominant pattern, which means that having a change in just one copy of the gene is enough to be affected. People with this condition develop multiple juvenile polyps in the gastrointestinal tract. Juvenile polyps refer to non-cancerous growths that appear in the digestive system but may require monitoring over time.
The presence of these polyps carries an increased predisposition to gastrointestinal cancer. Because the polyps form in the digestive system, individuals with this condition are often monitored for any changes that might indicate a progression towards cancer. This summary is based on the available description of the disorder and reflects our current understanding as provided by trusted sources.
Information about symptoms is currently limited for this condition.
BMPR1A-related juvenile polyposis syndrome is caused by pathogenic variants in the BMPR1A gene. The disorder is hereditary and follows an autosomal dominant pattern, meaning that a change in one copy of the gene can lead to the condition. This genetic change leads to the development of gastrointestinal juvenile polyps and an increased risk of gastrointestinal cancer.
A case study highlights the association of juvenile polyposis syndrome with tetralogy of Fallot in a post-Fontan adolescent, emphasizing significant cancer risks and developmental overlaps. This rare combination underscores the need for heightened surveillance in affected individuals.
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