KEGG   DISEASE: H01024Help
Entry
H01024                      Disease                                

Name
Hereditary mixed polyposis syndrome
Description
Hereditary mixed polyposis syndrome (HMPS) is a rare condition characterized by mixed hyperplastic, adenomatous and juvenile polyps and is associated with an increased risk of colorectal carcinoma. HMPS is linked to mutations in the BMPR1A gene.
Category
Gastrointestinal disease
BRITE hierarchy
Pathway
Cytokine-cytokine receptor interaction
TGF-beta signaling pathway
Gene
BMPR1A [HSA:657] [KO:K04673]
Other DBs
MeSH: 
OMIM: 
Reference
PMID:19438883 (description, gene)
  Authors
O'Riordan JM, O'Donoghue D, Green A, Keegan D, Hawkes LA, Payne SJ, Sheahan K, Winter DC
  Title
Hereditary mixed polyposis syndrome due to a BMPR1A mutation.
  Journal
Colorectal Dis 12:570-3 (2010)
Reference
PMID:16525031 (description, gene)
  Authors
Cao X, Eu KW, Kumarasinghe MP, Li HH, Loi C, Cheah PY
  Title
Mapping of hereditary mixed polyposis syndrome (HMPS) to chromosome 10q23 by genomewide high-density single nucleotide polymorphism (SNP) scan and identification of BMPR1A loss of function.
  Journal
J Med Genet 43:e13 (2006)

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