Epidermolysis Bullosa, Junctional 7, with Interstitial Lung Disease and Nephrotic Syndrome (JEB7)

单纯性大疱性表皮松解症交界区7型伴有间质性肺病和肾病综合征(来自ICD-11)

别称:

Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital

Ilneb

Jeb7

Pidermolysis Bullosa, Junctional 7, with Interstitial Lung Disease and Nephrotic Syndrome

Junctional Epidermolysis Bullosa with Interstitial Lung Disease and Nephrotic Syndrome

Lung Disease, Interstitial, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital

Interstitial Lung Disease-Nephrotic Syndrome-Epidermolysis Bullosa Syndrome

Jeb with Interstitial Lung Disease and Nephrotic Syndrome

Ilneb Syndrome

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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，连接性 7 型，伴有间质性肺病和肾病综合征，又称间质性肺病、肾病综合征和先天性表皮松解性水疱病，与表皮松解性水疱病和肾病综合征有关。与表皮松解性水疱病，连接性 7 型，伴有间质性肺病和肾病综合征相关的基因是 ITGA3（整合素亚基 alpha 3）。相关组织包括肺和皮肤，相关表型为肾病综合征和稀疏的头皮毛发。

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