KEGG   DISEASE: Hereditary mixed polyposis syndrome
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
Digestive system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 02 Neoplasms
  Benign neoplasms, except of lymphoid, haematopoietic, central nervous system or related tissues
   Benign non-mesenchymal neoplasms
    2E92  Benign neoplasm of digestive organs
     H01024  Hereditary mixed polyposis syndrome
Pathway-based classification of diseases [BR:br08402]
 Signal transduction
  nt06507  TGFB signaling
   H01024  Hereditary mixed polyposis syndrome
Pathway
hsa04390  Hippo signaling pathway
hsa04060  Cytokine-cytokine receptor interaction
hsa04350  TGF-beta signaling pathway
Network
nt06507 TGFB signaling
Gene
BMPR1A [HSA:657] [KO:K04673]
Other DBs
ICD-11: 2E92.40
MeSH: C563365 C566451
OMIM: 610069
Reference
PMID:19438883
  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)
DOI:10.1111/j.1463-1318.2009.01931.x
Reference
PMID:16525031
  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)
DOI:10.1136/jmg.2005.034827

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Network (2)   
   KEGG NETWORK (1)   
   KEGG VARIANT (1)   
Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (2)   
   PubMed (2)   
All databases (7)   

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