Juvenile polyposis syndrome

A hereditary form of intestinal polyposis where POLYPS first appear by age 20. Diagnosis is based on the presence of HARMATOMA - like gastrointestinal polyps that become malignant lesions by age 35 in 20% of cases. Germline mutations in the SMAD4 and BMPR1A genes have been identified. OMIM: 174900

Also Known As:

Bmpr1a-Related Juvenile Polyposis; Juvenile Polyposis Coli; Juvenile Polyposis Of Infancy; Juvenile Polyposis Of Stomach; Juvenile Polyposis, Infantile; Juvenile intestinal polyposis; Polyposis, familial, of entire gastrointestinal tract; Polyposis, juvenile intestinal; Smad4-Related Juvenile Polyposis

Neoplasms: 1361496
- Hereditary Neoplastic Syndromes: 115
  - Juvenile polyposis syndrome: 43
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Hereditary Neoplastic Syndromes: 115
    - Juvenile polyposis syndrome: 43
Digestive System Diseases: 1068
- Gastrointestinal Diseases: 6062
  - Intestinal Diseases: 1640
    - Intestinal Polyposis: 139
      - Juvenile polyposis syndrome: 43

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Disease

Drug/Important Bio-Agent (IBA)