Macular Dystrophy, Corneal (MCD)

Alias:
Macular Corneal Dystrophy
Mcd
Fehr Corneal Dystrophy
Groenouw Type Ii Corneal Dystrophy
Corneal Dystrophy Groenouw Type Ii
Macular Corneal Dystrophy, Type Ii
Macular Corneal Dystrophy Type Ii
Corneal Dystrophy, Macular Type
Macular Corneal Dystrophy, Type I
Macular Dystrophy, Corneal Type 1
Macular Corneal Dystrophy Type I
Corneal Dystrophy Macular Type
Macular Dystrophy, Corneal, 1
Dystrophy, Macular, Corneal
Mcdc1, Formerly
Mcdc1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Macular Dystrophy, Corneal, also known as macular corneal dystrophy, is related to corneal dystrophy, meesmann, 1 and ehlers-danlos syndrome, spondylodysplastic type, 1. An important gene associated with Macular Dystrophy, Corneal is CHST6 (Carbohydrate Sulfotransferase 6), and among its related pathways/superpathways are Metabolism and Metapathway biotransformation Phase I and II. The drugs Fomepizole and Protective Agents have been mentioned in the context of this disorder. Affiliated tissues include eye and endothelial, and related phenotypes are opacification of the corneal stroma and corneal crystals
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
All ages
--
15
76
43

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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