DISEASE: Cole disease
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.
Skin and connective tissue disease
Human diseases [BR:
Skin and soft tissue diseases
H01394 Cole disease
Starch and sucrose metabolism
Nicotinate and nicotinamide metabolism
Pantothenate and CoA biosynthesis
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
Cole Disease Results from Mutations in ENPP1.
Am J Hum Genet 93:752-7 (2013)
Moore MM, Orlow SJ, Kamino H, Wang N, Schaffer JV
Cole disease: guttate hypopigmentation and punctate palmoplantar keratoderma.
Arch Dermatol 145:495-7 (2009)
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