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GENATLAS PHENOTYPE
last update : 15/04/2010
Symbol CHED2
Location 20p13
HGNC id 1924
Name congenital hereditary endothelial dystrophy of the cornea 2
Other name(s) Maumenee corneal dystrophy
Corresponding gene SLC4A11
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
  • severe reduced vision due to failure in growth regulation during the terminal differentiation and reorganization of the endothelium
  • rarely associated with deafness
    • Genetic determination autosomal recessive
    Function/system disorder eye
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/loss of function loss of function of the protein either by blocking its membrane targeting or nonsense-mediated decay
    Remark(s)