| H01024 | |
| H number | H01024 |
| 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 |
| Network | - |
| Gene | BMPR1A [HSA:657] [KO:K04673] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| 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 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 |