Corneal Dystrophy, Posterior Polymorphous, 1 (PPCD1)

Alias:
Posterior Polymorphous Corneal Dystrophy
Maumenee Corneal Dystrophy
Posterior Polymorphous Corneal Dystrophy 1
Ppcd
Corneal Dystrophy, Hereditary Polymorphous Posterior
Corneal Endothelial Dystrophy 1, Autosomal Dominant
Ppcd1
Ched1
Autosomal Recessive Congenital Hereditary Endothelial Dystrophy
Congenital Hereditary Endothelial Dystrophy Type Ii
Congenital Hereditary Endothelial Dystrophy Type 2
Infantile Hereditary Endothelial Dystrophy
Autosomal Recessive Ched
Schlichting Dystrophy
Chedii
Ched2
Autosomal Dominant Congenital Hereditary Endothelial Dystrophy
Corneal Endothelial Dystrophy 1, Autosomal Dominant, Formerly
Hereditary Polymorphous Posterior Corneal Dystrophy
Hereditary Polymorphus Posterior Corneal Dystrophy
Congenital Hereditary Endothelial Dystrophy Type I
Congenital Hereditary Endothelial Dystrophy Type 1
Dystrophy, Corneal, Posterior Polymorphous, Type 1
Dystrophy, Corneal, Posterior Polymorphous
Posterior Polymorphous Dystrophy
Corneal Endothelial Dystrophy 2
Polymorphous Corneal Dystrophy
Autosomal Dominant Ched
Ched1, Formerly
Chedi
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Corneal Dystrophy, Posterior Polymorphous, 1, also known as posterior polymorphous corneal dystrophy, is related to corneal dystrophy, posterior polymorphous, 4 and corneal dystrophy, posterior polymorphous, 2. An important gene associated with Corneal Dystrophy, Posterior Polymorphous, 1 is OVOL2 (Ovo Like Zinc Finger 2), and among its related pathways/superpathways are Extracellular matrix organization and Epithelial to mesenchymal transition in colorectal cancer. Affiliated tissues include endothelial and eye, and related phenotypes are corneal opacity and corneal stromal edema
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Child
1-9/100000
45
214
33

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

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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