| H01024 | |
| H番号 | H01024 |
| 名称 | 遺伝性混合ポリポーシス症候群 |
| 概要 | 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. |
| カテゴリ | 消化器系疾患 |
| ネットワーク | - |
| 病因遺伝子 | BMPR1A [HSA:657] [KO:K04673] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 2E92.40 MeSH: C563365 C566451 OMIM: 610069 |
| 文献 | PMID:19438883 著者 O'Riordan JM, O'Donoghue D, Green A, Keegan D, Hawkes LA, Payne SJ, Sheahan K, Winter DC タイトル Hereditary mixed polyposis syndrome due to a BMPR1A mutation. 雑誌 Colorectal Dis 12:570-3 (2010) DOI:10.1111/j.1463-1318.2009.01931.x PMID:16525031 著者 Cao X, Eu KW, Kumarasinghe MP, Li HH, Loi C, Cheah PY タイトル 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. 雑誌 J Med Genet 43:e13 (2006) DOI:10.1136/jmg.2005.034827 |