posterior amorphous corneal dystrophy

Summary
Synonym
  • PACD
  • chromosome 12q21.33 deletion syndrome
Definition
A stromal dystrophy that is characterized by irregular sheetlike areas of opacification with involvement of the Descemet membrane and, in some instances, alterations of the normal endothelial mosaic and that has_material_basis_in a chromosome 12q21.33 contiguous gene deletion syndrome.
Super Class
autosomal dominant disease chromosomal deletion syndrome stromal dystrophy
External Links
Disease Ontology
DOID:0060452
Mondo Disease Ontology
MeSH
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1634 DCN decorin
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P07585 Decorin

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024