Epidermolysis Bullosa Simplex 6, Generalized Intermediate, with or Without Cardiomyopathy (EBS6)

全身中度单纯性大疱性表皮松解症6型伴有或不伴有心肌病(来自ICD-11)

别称:

Epidermolysis Bullosa Simplex, Generalized, with Scarring and Hair Loss

Ebssh

Ebs6

Epidermolysis Bullosa Simplex 6, Generalized Intermediate, with Scarring and Hair Loss, with or Without Dilated Cardiomyopathy

Epidermolysis Bullosa Simplex 6, Generalized, with Scarring and Hair Loss, with or Without Cardiomyopathy

Epidermolysis Bullosa Simplex 6, Generalized, with Scarring and Hair Loss

Intermediate Epidermolysis Bullosa Simplex with Cardiomyopathy

Intermediate Ebs with Cardiomyopathy

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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

单纯性大疱性表皮松解症6型，泛发性中间型，伴有或不伴有心肌病，也称为单纯性大疱性表皮松解症，泛发性，伴有疤痕和脱发。与单纯性大疱性表皮松解症6型，泛发性中间型，伴有或不伴有心肌病有关的重要基因是KLHL24（Kelch Like Family Member 24）。相关组织包括皮肤和心脏，相关表型为皮肤异常起泡和皮肤色素减退。

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