Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma (DCWHK)

扩张型心肌病伴头发卷曲和皮肤角化(来自ICD-11)

别称:

Carvajal Syndrome

Palmoplantar Keratoderma with Left Ventricular Cardiomyopathy and Woolly Hair

Dcwhk

Woolly Hair-Palmoplantar Hyperkeratosis-Dilated Cardiomyopathy Syndrome

Wooly Hair-Palmoplantar Hyperkeratosis-Dilated Cardiomyopathy Syndrome

Woolly Hair-Palmoplantar Keratoderma-Dilated Cardiomyopathy Syndrome

Wooly Hair-Palmoplantar Keratoderma-Dilated Cardiomyopathy Syndrome

Dilated Cardiomyopathy with Woolly Hair and Keratoderma

Cardiomyopathy Dilated with Woolly Hair and Keratoderma

Keratoderma with Woolly Hair Type Ii

Kwwh Type Ii

Arrhythmogenic Cardiomyopathy with Wooly Hair and Keratoderma

Cardiomyopathy, Dilated with Woolly Hair and Keratoderma

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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

扩张型心肌病，伴有卷曲毛发和角化病，也称为卡瓦哈尔综合症，与角化病和表皮松解性水疱病有关，其症状包括指甲的杵状。与扩张型心肌病，伴有卷曲毛发和角化病有关的重要基因是DSP（Desmoplakin），其相关通路/超级通路包括神经系统发育和程序性细胞死亡。相关组织包括皮肤和心脏，相关表型为扩张型心肌病和卷曲毛发

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