juvenile polyposis with hereditary hemorrhagic telangiectasia (JPHT)
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Pathology
- coexistence of:
- hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome)
- 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
More general terms
References
- ↑ Howe JR et al. Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science 280:1086-8, 1998 PMID: https://www.ncbi.nlm.nih.gov/pubmed/9582123
- ↑ OMIM https://mirror.omim.org/entry/175050
- ↑ UniProt http://www.uniprot.org/uniprot/Q13485.html