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References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 27-01-2016
Symbol CHED1
Location 20p11.23
HGNC id 1923
Name congenital hereditary endothelial dystrophy of the cornea 1
Other name(s) Maumenee corneal dystrophy
Corresponding gene OVOL2
Other symbol(s) CHED
Main clinical features
  • characterized by diffuse bilateral haziness of the cornea of variable degree
  • at the histopathologic level degeneration and abnormal corneal endothelium with cornea edema
  • characterized by significantly reduced vision
  • Genetic determination autosomal dominant
    Function/system disorder eye
    Type disease
    Remark(s) . mutations are located within a transcriptionally active region of the promoter (PMID: 26749309))