KEGG   DISEASE: Multiple cutaneous and uterine leiomyomata
H00804                      Disease                                

Multiple cutaneous and uterine leiomyomata
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.
Human diseases [BR:br08402]
 Other diseases
   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
hsa00020  Citrate cycle (TCA cycle)
hsa01100  Metabolic pathways
FH [HSA:2271] [KO:K01679]
Other DBs
ICD-11: 2E8Z
ICD-10: D21.9
MeSH: C535516
OMIM: 150800
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
Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency.
Hum Mol Genet 12:1241-52 (2003)
Makino T, Nagasaki A, Furuichi M, Matsui K, Watanabe H, Sawamura D, Shimizu H, Shimizu T
Novel mutation in a fumalate hydratase gene of a Japanese patient with multiple cutaneous and uterine leiomyomatosis.
J Dermatol Sci 48:151-3 (2007)
Rongioletti F, Fausti V, Ferrando B, Parodi A, Mandich P, Pasini B
A novel missense mutation in fumarate hydratase in an Italian patient with a diffuse variant of cutaneous leiomyomatosis (Reed's syndrome).
Dermatology 221:378-80 (2010)

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