Vohwinkel Syndrome (VOWNKL)

Vohwinkel Syndrome(来自ICD-11)

别称:

Keratoderma Hereditarium Mutilans

Mutilating Keratoderma

Khm

Mutilating Keratoderma Plus Deafness

Mutilating Keratoderma of Vohwinkel

Ppk Mutilans and Deafness

Vownkl

Congenital Deafness with Keratopachydermia and Constrictions of Fingers and Toes

Mutilating Keratoderma Plus Hearing Loss

Ppk Mutilans and Hearing Loss

Deafness, Congenital, with Keratopachydermia and Constrictions of Fingers and Toes

Congenital Deafness with Keratopachydermia and Constrictions Fo Fingers and Toes

Palmoplantar Keratoderma Mutilans Vohwinkel

Palmoplantar Keratoderma Mutilans

Ppk Mutilans Vohwinkel

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Vohwinkel Syndrome, also known as keratoderma hereditarium mutilans, is related to keratitis-ichthyosis-deafness syndrome, autosomal dominant and keratoderma, palmoplantar, with deafness. An important gene associated with Vohwinkel Syndrome is GJB2 (Gap Junction Protein Beta 2), and among its related pathways/superpathways are Vesicle-mediated transport and G-protein signaling G-Protein alpha-i signaling cascades. Affiliated tissues include skin and spinal cord, and related phenotypes are sensorineural hearing impairment and hyperkeratosis

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