H00804 | |
H number | H00804 |
Name | Multiple cutaneous and uterine leiomyomata |
Description | 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. |
Category | Neoplasm |
Network | - |
Gene | FH [HSA:2271] [KO:K01679] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 2E8Z ICD-10: D21.9 MeSH: C535516 OMIM: 150800 |
Reference | PMID:12761039 AUTHORS 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 TITLE Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency. JOURNAL Hum Mol Genet 12:1241-52 (2003) DOI:10.1093/hmg/ddg148 PMID:17768033 AUTHORS Makino T, Nagasaki A, Furuichi M, Matsui K, Watanabe H, Sawamura D, Shimizu H, Shimizu T TITLE Novel mutation in a fumalate hydratase gene of a Japanese patient with multiple cutaneous and uterine leiomyomatosis. JOURNAL J Dermatol Sci 48:151-3 (2007) DOI:10.1016/j.jdermsci.2007.07.009 PMID:21051878 AUTHORS Rongioletti F, Fausti V, Ferrando B, Parodi A, Mandich P, Pasini B TITLE A novel missense mutation in fumarate hydratase in an Italian patient with a diffuse variant of cutaneous leiomyomatosis (Reed's syndrome). JOURNAL Dermatology 221:378-80 (2010) DOI:10.1159/000321336 |