Lisch epithelial corneal dystrophy

Summary
Synonym
  • LECD
  • band-shaped and whorled microcystic
Definition
An epithelial and subepithelial dystrophy that is characterized by bilateral or unilateral, gray, band-shaped, and feathery opacities that sometimes appeared in whorled patterns and that has_material_basis_in the MCOLN1 gene on Chr. 19.
Super Class
X-linked dominant disease epithelial and subepithelial dystrophy
Disease Ontology
DOID:0060450
Mondo Disease Ontology
MeSH
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
57192 MCOLN1 mucolipin TRP cation channel 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
94178 Mcoln1 mucolipin 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
176074 cup-5 Polycystin cation channel PKD1/PKD2 domain-containing 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