KEGG DISEASE: Multiple cutaneous and uterine leiomyomata

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

Neoplasm

Brite

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

Citrate cycle (TCA cycle)

Gene

FH [HSA:2271] [KO:K01679]

Other DBs

ICD-11:

MeSH:

OMIM:

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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