KEGG DISEASE: Tylosis with esophageal cancer

KEGG

DISEASE: Tylosis with esophageal cancer

Entry

H02702                      Disease

Name

Tylosis with esophageal cancer

Description

Tylosis with esophageal cancer (TOC) is an autosomal-dominant syndrome characterized by palmoplantar keratoderma, oral precursor lesions, and a high lifetime risk of esophageal cancer. It has been reported that mutations in RHBDF2 cause this disease. RHBDF2 is an inactive rhomboid protease, which has recently been shown to regulate the maturation of the multi-substrate ectodomain sheddase enzyme ADAM17 in macrophages.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
14 Diseases of the skin
  Genetic or developmental disorders affecting the skin
   EC20  Genetic disorders of keratinisation
    H02702  Tylosis with esophageal cancer

Gene

RHBDF2 [HSA:79651] [KO:K27588]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Blaydon DC, Etheridge SL, Risk JM, Hennies HC, Gay LJ, Carroll R, Plagnol V, McRonald FE, Stevens HP, Spurr NK, Bishop DT, Ellis A, Jankowski J, Field JK, Leigh IM, South AP, Kelsell DP

Title

RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome.

Journal

Am J Hum Genet 90:340-6 (2012)
DOI:10.1016/j.ajhg.2011.12.008

Reference

Authors

Brooke MA, Etheridge SL, Kaplan N, Simpson C, O'Toole EA, Ishida-Yamamoto A, Marches O, Getsios S, Kelsell DP

Title

iRHOM2-dependent regulation of ADAM17 in cutaneous disease and epidermal barrier function.

Journal

Hum Mol Genet 23:4064-76 (2014)
DOI:10.1093/hmg/ddu120

LinkDB

» Japanese version

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