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granular corneal dystrophy 2
Summary
- Synonym
-
- CGD2
- avellino corneal dystrophy
- combined granular-lattice corneal dystrophy
- corneal dystrophy, Avellino type
- granular corneal dystrophy type 2
- Definition
- An corneal granular dystrophy that is characterized by recurrent erosions and stellate or thorn-like opacification located_in the cornea, hyaline and amyloid deposits in the stroma, and progressive vision loss later in life, and has_material_basis_in autosomal dominant inheritance of mutation of transforming growth factor beta-induced gene on chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased hyaline and amyloid protein deposition and disruption of the corneal surface.
- Super Class
- granular corneal dystrophy
External Links
- Disease Ontology
- DOID:0060444
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04040 | Catalase | |
| P09874 | Poly [ADP-ribose] polymerase 1 | |
| P12821 | Angiotensin-converting enzyme | |
| P15813 | Antigen-presenting glycoprotein CD1d | |
| P18827 | Syndecan-1 |
