Epidermolysis Bullosa Simplex 7, with Nephropathy and Deafness (EBS7)

Alias:
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness
Ebs7
Nephrotic Syndrome-Epidermolysis Bullosa-Sensorineural Deafness Syndrome
Nephrotic Syndrome - Deafness - Pretibial Epidermolysis Bullosa Syndrome
Nephrotic Syndrome-Hearing Loss-Epidermolysis Bullosa Syndrome
Epidermolysis Bullosa Simplex with Nephropathy
Ebs with Nephropathy
Npebd
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Epidermolysis Bullosa Simplex 7, with Nephropathy and Deafness, also known as nephropathy with pretibial epidermolysis bullosa and deafness, is related to epilepsy and epidermolysis bullosa. An important gene associated with Epidermolysis Bullosa Simplex 7, with Nephropathy and Deafness is CD151 (CD151 Molecule (Raph Blood Group)). Affiliated tissues include skin and kidney, and related phenotypes are sensorineural hearing impairment and stage 5 chronic kidney disease
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Adolescent
<1/1000000
1
9
3

Medical Symptom

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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

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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
Journal
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IF
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