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 |