Erythrokeratodermia Variabilis Et Progressiva 1 (EKVP1)
Alias:
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。