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
Disease Ontology
DOID:0060455
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
7045 TGFBI transforming growth factor beta induced
Displaying 1 entry
Gene ID Gene Symbol Description Source
850687 YLR001C uncharacterized protein

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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: December 9, 2024