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juvenile polyposis with hereditary hemorrhagic telangiectasia (JPHT)
Pathology:
- coexistence of:
1) hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome)
2) juvenile polyposis
Genetics:
- autosomal dominant (both components are autosomal dominant)
- juvenile polyposis is associated with defects SMAD4 or BMPR1A
- hereditary hemorrhagic telangiectasia is associates with defects in ENG or ACVRL1
- all 4 genes encode proteins involved in the transforming-growth-factor signaling pathway
Clinical manifestations:
- juvenile polyposis & hereditary hemorrhagic telangiectasia are disorders with distinct & non-overlapping clinical features
Complications:
- juvenile polyposis is an inherited gastrointestinal malignancy predisposition syndrome
General
juvenile polyposis coli
Osler-Weber-Rendu syndrome (hereditary hemorrhagic telangiectasia type 1)
Database Correlations
OMIM 175050
References
- Howe JR et al.
Mutations in the SMAD4/DPC4 gene in juvenile polyposis.
Science 280:1086-8, 1998
PMID: 9582123
- OMIM :accession 175050
- UniProt :accession Q13485