Corneal Dystrophy, Reis-Bucklers Type (CDRB)

Alias:
Reis-Bucklers Corneal Dystrophy
Rbcd
Corneal Dystrophy of Bowman Layer Type I
Granular Corneal Dystrophy Type Iii
Geographic Corneal Dystrophy
Anterior Limiting Membrane Dystrophy Type I
Reis-Bucklers' Corneal Dystrophy
Anterior Limiting Membrane Dystrophy Type 1
Corneal Dystrophy of Bowman Layer Type 1
Superficial Granular Corneal Dystrophy
Atypical Granular Corneal Dystrophy
Granular Corneal Dystrophy Type 3
Cdrb
Cdb1
Corneal Dystrophy of Bowman Layer, Type I
Corneal Dystrophy of Bowman Layer, Type 1
Dystrophy, Corneal, Reis-Bucklers Type
Granular Corneal Dystrophy, Type Iii
Reis-Bücklers Corneal Dystrophy
Corneal Dystrophy, Geographic
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Corneal Dystrophy, Reis-Bucklers Type, also known as reis-bucklers corneal dystrophy, is related to lattice corneal dystrophy and epithelial recurrent erosion dystrophy. An important gene associated with Corneal Dystrophy, Reis-Bucklers Type is TGFBI (Transforming Growth Factor Beta Induced), and among its related pathways/superpathways is 7q11.23 copy number variation syndrome. Affiliated tissues include eye and bone marrow, and related phenotypes are corneal opacity and opacification of the corneal stroma
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Child
<1/1000000
9
62
18

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
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IF
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