Olmsted Syndrome 1 (OLMS1)

Olmsted Syndrome 1(来自ICD-11)

别称:

Olms1

Autosomal Dominant Mutilating Palmoplantar Keratoderma with Periorificial Keratotic Plaques

Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques 1

Mutilating Palmoplantar Keratoderma with Periorificial Keratotic Plaques

Autosomal Dominant Olmsted Syndrome

Olmsted Syndrome

Ppkm1

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Olmsted Syndrome 1, also known as olms1, is related to mutilating palmoplantar keratoderma with periorificial keratotic plaques and vohwinkel syndrome. An important gene associated with Olmsted Syndrome 1 is TRPV3 (Transient Receptor Potential Cation Channel Subfamily V Member 3). Affiliated tissues include skin and tongue, and related phenotypes are hyperhidrosis and corneal opacity

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