Corneal Dystrophy, Posterior Amorphous (PACD)

Alias:
Posterior Amorphous Corneal Dystrophy
Pacd
Chromosome 12q21.33 Deletion Syndrome
Posterior Amorphous Stromal Dystrophy
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Corneal Dystrophy, Posterior Amorphous, also known as posterior amorphous corneal dystrophy, is related to corneal dystrophy and corneal disease. An important gene associated with Corneal Dystrophy, Posterior Amorphous is PACD (Corneal Dystrophy, Posterior Amorphous), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Diseases of glycosylation. Affiliated tissues include eye and endothelial, and related phenotypes are iris coloboma and ectopia pupillae
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
<1/1000000
11
51
7

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Mutations
No data available

Related Drugs

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CAS Number
Status
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No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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