Epidermolysis Bullosa Dystrophica, Autosomal Recessive (RDEB)

Alias:
Epidermolysis Bullosa Dystrophica, Generalized Severe, Autosomal Recessive
Epidermolysis Bullosa Dystrophica, Hallopeau-Siemens Type
Rdeb
Ebr1
Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Modifier of
Dystrophic Epidermolysis Bullosa, Autosomal Recessive
Epidermolysis Bullosa Dystrophica, Localisata Variant
Autosomal Recessive Dystrophic Epidermolysis Bullosa
Recessive Dystrophic Epidermolysis Bullosa Inversa
Recessive Dystrophic Epidermolysis Bullosa
Epidermolysis Bullosa Dystrophica Inversa
Epidermolysis Bullosa Inversa Dystrophica
Hallopeau-Siemens Disease
Rdeb Inversa
Rdeb-I
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Epidermolysis Bullosa Dystrophica, Autosomal Recessive, also known as epidermolysis bullosa dystrophica, generalized severe, autosomal recessive, is related to epidermolysis bullosa dystrophica and autosomal recessive generalized dystrophic epidermolysis bullosa, severe form, and has symptoms including constipation and onychomadesis. An important gene associated with Epidermolysis Bullosa Dystrophica, Autosomal Recessive is COL7A1 (Collagen Type VII Alpha 1 Chain), and among its related pathways/superpathways are Integrin Pathway and Collagen chain trimerization. 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 fragile skin and carious teeth
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
2
17
93

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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