Erythrokeratodermia Variabilis Et Progressiva 1 (EKVP1)

进行性多变性红斑皮肤角化症1型(来自ICD-11)

别称:

Erythrokeratodermia Variabilis

Erythrokeratodermia Variabilis Et Progressiva

Ekv

Greither Disease

Ekvp

Erythrokeratodermia Variabilis with Erythema Gyratum Repens

Erythrokeratodermia Variabilis, Mendes Da Costa Type

Erythrokeratodermia, Progressive Symmetric

Progressive Symmetric Erythrokeratodermia

Ekvp1

Psek

Erythrokeratodermia Figurata, Congenital Familial, in Plaques

Congenital Familial Erythrokeratodermia Figurata in Plaques

Progressive Symmetric Erythrokeratodermia, Gottron Type

Transgrediens Et Progrediens Palmoplantar Keratoderma

Keratosis Palmoplantaris Transgrediens Et Progrediens

Progressive Symmetrical Erythrokeratoderma of Gottron

Erythrokeratodermia Variabilis Mendes Da Costa Type

Erythrokeratodermia Variabilis of Mendes Da Costa

Erythrokeratodermia Progressiva Symmetrica

Erythrokeratodermia Symmetrica Progressiva

Erythrokeratodermia Progressive Symmetric

Keratoderma Palmoplantaris Transgrediens

Erythrokeratodermia Figurata Variabilis

Darier-Gottron Disease

Ekv-P

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

Erythrokeratodermia Variabilis Et Progressiva 1，也被称为可变性红斑角化病，与红斑角化病和掌跖角化病有关。与Erythrokeratodermia Variabilis Et Progressiva 1相关的基因是GJB3（间隙连接蛋白β3），其相关通路/超级通路包括囊泡介导的运输和G蛋白信号通路G蛋白α-i信号级联。相关组织包括皮肤和眼睛，相关表型包括小头和矮小。

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