Epidermolysis Bullosa, Junctional 7, with Interstitial Lung Disease and Nephrotic Syndrome (JEB7)

Alias:
Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital
Ilneb
Jeb7
Pidermolysis Bullosa, Junctional 7, with Interstitial Lung Disease and Nephrotic Syndrome
Junctional Epidermolysis Bullosa with Interstitial Lung Disease and Nephrotic Syndrome
Lung Disease, Interstitial, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital
Interstitial Lung Disease-Nephrotic Syndrome-Epidermolysis Bullosa Syndrome
Jeb with Interstitial Lung Disease and Nephrotic Syndrome
Ilneb Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Epidermolysis Bullosa, Junctional 7, with Interstitial Lung Disease and Nephrotic Syndrome, also known as interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, is related to epidermolysis bullosa and nephrotic syndrome. An important gene associated with Epidermolysis Bullosa, Junctional 7, with Interstitial Lung Disease and Nephrotic Syndrome is ITGA3 (Integrin Subunit Alpha 3). Affiliated tissues include lung and skin, and related phenotypes are nephrotic syndrome and sparse scalp hair
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
1
6
3

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

Title
PMID
Journal
Year
IF
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