Condition

Juvenile polyposis syndrome

Diseases of the Digestive System

Juvenile polyposis syndrome is an inherited condition, passed on in an autosomal dominant way, marked by multiple juvenile polyps in the gastrointestinal tract. Polyps are abnormal growths arising from a mucous membrane. They usually begin to appear before the age of twenty, but the word juvenile describes the type of polyp, a benign hamartoma rather than an adenoma, and not the age of the patient. Most of the polyps are non-neoplastic, self-limiting and benign, though the risk of adenocarcinoma is raised. A single juvenile polyp most often occurs in the rectum and presents with rectal bleeding. World Health Organization criteria require more than five juvenile polyps in the colon or rectum, or juvenile polyps throughout the gastrointestinal tract, or any number of such polyps in a person with a family history of the syndrome.

Facts
Classification
Body System
Digestive System 1
ICD-10 Chapter
II: Neoplasms 2
Communicable or Non-communicable
Non-Communicable 3
Transmission Route
Non-Transmissible 4
Causative Agent
Causative Agent (category)
Genetic / Hereditary 1
Prevalence Band
Rare (Under 1 in 2000) 5
Sources
1. Juvenile polyposis syndrome (Wikipedia)
  • Lead
    is an autosomal dominant genetic condition
  • Lead [body-system]
    characterized by the appearance of multiple juvenile polyps in the gastrointestinal tract
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2. Orphadata (Orphanet): Orphadata cross-references, ORPHAcode 2929
Orphadata (Orphanet)Orphanet cross-reference to ICD-10, chapter derived from the code
Quote, Orphanet cross-reference to ICD-10, chapter derived from the code
"Reference": "D12.6", "Source": "ICD-10"
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3. National Cancer Institute (NCI Thesaurus): Juvenile polyposis syndrome - NCI Thesaurus concept C7754
National Cancer Institute (NCI Thesaurus)Definition
Quote, Definition
An autosomal dominant hereditary neoplastic syndrome.
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4. MedlinePlus Genetics (U.S. National Library of Medicine): Juvenile polyposis syndrome - MedlinePlus Genetics
MedlinePlus Genetics (U.S. National Library of Medicine)Description and Inheritance
Quote, Description and Inheritance
Mutations in the BMPR1A and SMAD4 genes cause juvenile polyposis syndrome.
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5. Orphadata (Orphanet): Orphadata epidemiology, ORPHAcode 2929
Orphadata (Orphanet)Orphanet epidemiology, ORPHAcode 2929
Quote, Orphanet epidemiology, ORPHAcode 2929
"PrevalenceClass": "1-9 / 100 000", "PrevalenceGeographic": "Europe", "PrevalenceQualification": "Value and class", "PrevalenceType": "Annual incidence"
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