Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form

Alias:

Autosomal Recessive Dystrophic Epidermolysis Bullosa, Hallopeau-Siemens Type

Autosomal Recessive Dystrophic Epidermolysis Bullosa Generalisata Gravis

Generalized Rdeb, Severe Form

Rdeb, Hallopeau-Siemens Type

Rdeb Generalisata Gravis

Severe Generalized Rdeb

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Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form, also known as autosomal recessive dystrophic epidermolysis bullosa, hallopeau-siemens type, is related to recessive dystrophic epidermolysis bullosa and epidermolysis bullosa dystrophica. An important gene associated with Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form is COL7A1 (Collagen Type VII Alpha 1 Chain), and among its related pathways/superpathways are Integrin Pathway and Collagen chain trimerization. Affiliated tissues include skin and eye, and related phenotypes are carious teeth and flexion contracture

Related ID：

MALACARDS：ATS543