Epidermolysis Bullosa Dystrophica, Autosomal Dominant (DDEB)

Alias:
Autosomal Dominant Dystrophic Epidermolysis Bullosa
Epidermolysis Bullosa Dystrophica, Cockayne-Touraine Type
Albopapuloid Dominant Dystrophic Epidermolysis Bullosa
Epidermolysis Bullosa Dystrophica, Pasini Type
Ebdct
Ddeb
Ebdd
Epidermolysis Bullosa Dystrophica, with Subcorneal Cleavage
Epidermolysis Bullosa Dystrophica with Subcorneal Cleavage
Generalized Dominant Dystrophic Epidermolysis Bullosa
Dystrophic Epidermolysis Bullosa, Autosomal Dominant
Epidermolysis Bullosa Dystrophica, Ad
Cockayne-Touraine Disease
Ebdsc
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Epidermolysis Bullosa Dystrophica, Autosomal Dominant, also known as autosomal dominant dystrophic epidermolysis bullosa, is related to glomerulonephritis and epidermolysis bullosa. An important gene associated with Epidermolysis Bullosa Dystrophica, Autosomal Dominant is COL7A1 (Collagen Type VII Alpha 1 Chain), and among its related pathways/superpathways are Complement cascade and Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs). Affiliated tissues include skin and liver, and related phenotypes are abnormal blistering of the skin and sub-lamina densa cleavage
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
--
3
40
44

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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