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Juvenile polyposis syndrome

Synonyms
Polyposis familial of entire gastrointestinal tract; Polyposis juvenile intestinal
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Juvenile Polyposis Syndrome
Juvenile polyposis syndrome (JPS) is characterized by predisposition to hamartomatous polyps in the gastrointestinal (GI) tract, specifically in the stomach, small intestine, colon, and rectum. The term "juvenile" refers to the type of polyp rather than to the age of onset of polyps. Most individuals with JPS have some polyps by age 20 years; some may have only four or five polyps over their lifetime, whereas others in the same family may have more than 100. If the polyps are left untreated, they may cause bleeding and anemia. Most juvenile polyps are benign; however, malignant transformation can occur. Risk for GI cancers ranges from 11% to 86%. Most of this increased risk is attributed to colon cancer, but cancers of the stomach, upper GI tract, and pancreas have also been reported. A combined syndrome of JPS and hereditary hemorrhagic telangiectasia (HHT) is present in most individuals with an SMAD4 pathogenic variant.
Full text of GeneReview (by section):
Summary
GeneReview Scope
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Joy Larsen Haidle
Suzanne P MacFarland
James R Howe
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Available tests

68 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (68 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: 10q23del, ACVRLK3, ALK-3, ALK3, BMPR-1A, CD292, SKR5, BMPR1A
    Summary: bone morphogenetic protein receptor type 1A

  • Also known as: DPC4, JIP, MADH4, MYHRS, SMAD4
    Summary: SMAD family member 4

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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