| H00804 | |
| H番号 | H00804 |
| 名称 | Multiple cutaneous and uterine leiomyomata |
| 概要 | Multiple cutaneous and uterine leiomyomatosis (MCUL) is a rare autosomal dominant disorder that affects both sexes. It is characterized by benign skin tumors arising from the arrector pili muscle, and from uterine fibroids in female patients. Some patients with MCUL develop renal cancer and this condition is called hereditary leiomyomatosis and renal cell cancer. |
| カテゴリ | 新生物 |
| ネットワーク | - |
| 病因遺伝子 | FH [HSA:2271] [KO:K01679] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 2E8Z ICD-10: D21.9 MeSH: C535516 OMIM: 150800 |
| 文献 | PMID:12761039 著者 Alam NA, Rowan AJ, Wortham NC, Pollard PJ, Mitchell M, Tyrer JP, Barclay E, Calonje E, Manek S, Adams SJ, Bowers PW, Burrows NP, Charles-Holmes R, Cook LJ, Daly BM, Ford GP, Fuller LC, Hadfield-Jones SE, Hardwick N, Highet AS, Keefe M, MacDonald-Hull SP, Potts ED, Crone M, Wilkinson S, Camacho-Martinez F, Jablonska S, Ratnavel R, MacDonald A, Mann RJ, Grice K, Guillet G, Lewis-Jones MS, McGrath H, Seukeran DC, Morrison PJ, Fleming S, Rahman S, Kelsell D, Leigh I, Olpin S, Tomlinson IP タイトル Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency. 雑誌 Hum Mol Genet 12:1241-52 (2003) DOI:10.1093/hmg/ddg148 PMID:17768033 著者 Makino T, Nagasaki A, Furuichi M, Matsui K, Watanabe H, Sawamura D, Shimizu H, Shimizu T タイトル Novel mutation in a fumalate hydratase gene of a Japanese patient with multiple cutaneous and uterine leiomyomatosis. 雑誌 J Dermatol Sci 48:151-3 (2007) DOI:10.1016/j.jdermsci.2007.07.009 PMID:21051878 著者 Rongioletti F, Fausti V, Ferrando B, Parodi A, Mandich P, Pasini B タイトル A novel missense mutation in fumarate hydratase in an Italian patient with a diffuse variant of cutaneous leiomyomatosis (Reed's syndrome). 雑誌 Dermatology 221:378-80 (2010) DOI:10.1159/000321336 |