Epidermolysis Bullosa, Junctional 1a, Intermediate (JEB1A)

中度单纯性大疱性表皮松解症交界区1A型(来自ICD-11)

别称:

Jeb-I

Junctional Epidermolysis Bullosa Inversa

Jeb1a

Epidermolysis Bullosa, Junctional 1a, Generalized Intermediate

Junctional Epidermolysis Bullosa, Non-Herlitz Localized Type

Epidermolysis Bullosa, Junctional 1a, Non-Herlitz Type

Epidermolysis Bullosa Junctionalis, Non-Herlitz Type

Epidermolysis Bullosa Junctionalis, Severe Nonlethal

Epidermolysis Bullosa Atrophicans Generalisata Mitis

Epidermolysis Bullosa Junctionalis Severe Non-Lethal

Epidermolysis Bullosa, Junctional, Non-Herlitz Type

Generalized Junctional Epidermolysis Bullosa Mitis

Junctional Epidermolysis Bullosa, Non-Herlitz Type

Epidermolysis Bullosa Junctionalis, Disentis Type

Generalized Atrophic Benign Epidermolysis Bullosa

Epidermolysis Bullosa Junctionalis Disentis Type

Epidermolysis Bullosa Junctionalis, Progressive

Epidermolysis Bullosa Junctionalis Progressive

Non-Herlitz Junctional Epidermolysis Bullosa

Localized Junctional Epidermolysis Bullosa

Epidermolysis Bullosa Inversa Dystrophica

Localized Jeb

Jeb Inversa

Jeb-Nh Loc

Gabeb

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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

表皮松解性水疱病，联合型1a，中间型，也称为jeb-i，与表皮松解性水疱病，联合型4，中间型和中间型泛发性联合型表皮松解性水疱病有关。与表皮松解性水疱病，联合型1a，中间型相关的重要的基因是LAMB3（层粘连蛋白亚基β3），其相关通路/超级通路包括ERK信号通路和整合素通路。相关组织包括皮肤和眼睛，相关表型包括蛀牙和皮肤异常起泡。

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