KEGG   DISEASE: Multiple cutaneous and uterine leiomyomata
Entry
H00804                      Disease                                

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
Cancer
Brite
Human diseases [BR:br08402]
 Other diseases
  Others
   H00804  Multiple cutaneous and uterine leiomyomata
Human diseases in ICD-11 classification [BR:br08403]
 02 Neoplasms
  Benign neoplasms, except of lymphoid, haematopoietic, central nervous system or related tissues
   Benign mesenchymal neoplasms
    2E8Z  Benign mesenchymal neoplasms, unspecified
     H00804  Multiple cutaneous and uterine leiomyomata
Pathway
hsa00020  Citrate cycle (TCA cycle)
hsa01100  Metabolic pathways
Gene
FH [HSA:2271] [KO:K01679]
Other DBs
ICD-11: 2E8Z
ICD-10: D21.9
MeSH: C535516
OMIM: 150800
Reference
  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
Reference
  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
Reference
  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
LinkDB

» Japanese version

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