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中文Vohwinkel 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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沃辛克尔综合症，又名角化病遗传性多发性，与角膜-鱼鳞病-耳聋综合症、常染色体显性遗传和掌跖角化病、耳聋有关。沃辛克尔综合症相关的重要基因是GJB2（间隙连接蛋白β2），其相关通路/超级通路包括囊泡介导运输和G蛋白信号通路G蛋白α-i信号级联反应。相关组织包括皮肤和脊髓，相关表型包括感觉神经性听力障碍和过度角化。
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MALACARDS
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