Recessive Dystrophic Epidermolysis Bullosa

Alias:
Autosomal Recessive Dystrophic Epidermolysis Bullosa, Hallopeau-Siemens Type
Autosomal Recessive Dystrophic Epidermolysis Bullosa Generalisata Gravis
Severe Generalized Recessive Dystrophic Epidermolysis Bullosa
Rdeb, Hallopeau-Siemens Type
Hallopeau-Siemens Disease
Severe Generalized Rdeb
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Basic Information
Medical Symptom
Gene & Mutation
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Disease Model
References Literature
Recessive Dystrophic Epidermolysis Bullosa, also known as autosomal recessive dystrophic epidermolysis bullosa, hallopeau-siemens type, is related to epidermolysis bullosa dystrophica, autosomal recessive and autosomal recessive generalized dystrophic epidermolysis bullosa, severe form, and has symptoms including constipation and onychomadesis. An important gene associated with Recessive Dystrophic Epidermolysis Bullosa is COL7A1 (Collagen Type VII Alpha 1 Chain), and among its related pathways/superpathways are Integrin Pathway and Phospholipase-C Pathway. The drugs Pregabalin and Anti-Anxiety Agents have been mentioned in the context of this disorder. Affiliated tissues include skin and bone marrow, and related phenotypes are growth/size/body region and digestive/alimentary
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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30
236
52

Medical Symptom

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Gene & Mutation

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References Literature

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