Epidermolysis Bullosa Simplex 3, Localized or Generalized Intermediate, with Bp230 Deficiency (EBS3)

Alias:
Epidermolysis Bullosa Simplex, Autosomal Recessive 2
Ebs3
Epidermolysis Bullosa Simplex, Autosomal Recessive, Type 2
Epidermolysis Bullosa Simplex Due to Bp230 Deficiency
Dst-Related Epidermolysis Bullosa Simplex
Ebs Due to Bp230 Deficiency
Ebsb2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Epidermolysis Bullosa Simplex 3, Localized or Generalized Intermediate, with Bp230 Deficiency, also known as epidermolysis bullosa simplex, autosomal recessive 2, is related to neuropathy, hereditary sensory and autonomic, type vi. An important gene associated with Epidermolysis Bullosa Simplex 3, Localized or Generalized Intermediate, with Bp230 Deficiency is DST (Dystonin). Affiliated tissues include skin, and related phenotypes are dystrophic toenail and abnormal blistering of the skin
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Adult
<1/1000000
1
35
7

Medical Symptom

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

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
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
Journal
Year
IF
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