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ENVohwinkel Syndrome (VOWNKL)
Alias:
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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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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