Cole Disease (COLED)

Alias:

Hypopigmentation-Punctate Palmoplantar Keratoderma Syndrome

Guttate Hypopigmentation and Punctate Palmoplantar Keratoderma with or Without Ectopic Calcification

Guttate Hypopigmentation and Punctate Palmoplantar Keratoderma

Hypopigmentation and Punctate Keratosis of the Palms and Soles

Coled

Albinoidism, Oculocutaneous, Autosomal Dominant

Hypopigmentation Disorder

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Cole Disease, also known as hypopigmentation-punctate palmoplantar keratoderma syndrome, is related to dilution, pigmentary and skin disease, and has symptoms including achromia of skin An important gene associated with Cole Disease is ENPP1 (Ectonucleotide Pyrophosphatase/Phosphodiesterase 1). Affiliated tissues include skin and breast, and related phenotypes are palmoplantar keratoderma and hypopigmented macule

Related ID：

MALACARDS：CLD014

OMIM：615522

MESH：D007645