KEGG   DISEASE: Multiple cutaneous and uterine leiomyomata
エントリ  
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
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 02 腫瘍
  良性腫瘍, ただしリンパ, 造血, 中枢神経系または関連組織を除く
   良性間葉系腫瘍
    2E8Z  良性間葉系腫瘍, 詳細不明
     H00804  Multiple cutaneous and uterine leiomyomata
パスウェイ 
hsa00020  Citrate cycle (TCA cycle)
病因遺伝子 
FH [HSA:2271] [KO:K01679]
リンク   
ICD-11: 2E8Z
MeSH: C535516
OMIM: 150800
文献    
  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
文献    
  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
文献    
  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
LinkDB    

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