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Thiel-Behnke corneal dystrophy
Summary
- Synonym
-
- TBCD
- Waardenburg-Jonker corneal dystrophy
- anterior limiting membrane dystrophy type II
- corneal dystrophy honeycomb-shaped
- corneal dystrophy of Bowman layer type II
- Definition
- An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and honeycomb-shaped opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea.
- Super Class
- autosomal dominant disease epithelial-stromal TGFBI dystrophy
External Links
- Disease Ontology
- DOID:0060455
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q15582 | Transforming growth factor-beta-induced protein ig-h3 |
