KEGG   DISEASE: Cole disease
Entry
H01394                      Disease                                
Name
Cole disease
Description
Cole disease is a rare autosomal-dominant disorder characterized by congenital or early-onset punctate keratoderma associated with irregularly shaped hypopigmented macules, which are typically found over the arms and legs, but not the trunk or acral regions. Mutations in ENPP1, encoding ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), are associated with Cole disease. ENPP1 catalyzes the hydrolysis of ATP to AMP and generates extracellular inorganic pyrophosphate.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 14 Diseases of the skin
  Genetic and developmental disorders affecting the skin
   EC20  Genetic disorders of keratinisation
    H01394  Cole disease
Pathway
hsa00230  Purine metabolism
hsa00500  Starch and sucrose metabolism
hsa00740  Riboflavin metabolism
hsa00760  Nicotinate and nicotinamide metabolism
hsa00770  Pantothenate and CoA biosynthesis
Gene
ENPP1 [HSA:5167] [KO:K01513]
Other DBs
ICD-11: EC20.Y
OMIM: 615522
Reference
PMID:24075184
  Authors
Eytan O, Morice-Picard F, Sarig O, Ezzedine K, Isakov O, Li Q, Ishida-Yamamoto A, Shomron N, Goldsmith T, Fuchs-Telem D, Adir N, Uitto J, Orlow SJ, Taieb A, Sprecher E
  Title
Cole Disease Results from Mutations in ENPP1.
  Journal
Am J Hum Genet 93:752-7 (2013)
DOI:10.1016/j.ajhg.2013.08.007
Reference
PMID:19380683
  Authors
Moore MM, Orlow SJ, Kamino H, Wang N, Schaffer JV
  Title
Cole disease: guttate hypopigmentation and punctate palmoplantar keratoderma.
  Journal
Arch Dermatol 145:495-7 (2009)
DOI:10.1001/archdermatol.2009.54
LinkDB

» Japanese version

DBGET integrated database retrieval system