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GENATLAS PHENOTYPE
last update : 19/07/2006
Symbol MCDC1
Location 16q22
Name macular dystrophy, corneal 1
Other name(s) Groenouw type II corneal dystrophy
Corresponding gene CHST6
Other symbol(s) MCD
Main clinical features
  • characterized by progressive punctate opacities in the cornea resulting in bilateral loss of vision, eventually necessiting corneal transplantation, types I and II (Groenouw, type II) differing by the respective absence and presence of sulfated keratan sulfate in the patient serum, but indistinguishable clinical phenotypes
    • Genetic determination autosomal recessive
    Function/system disorder eye
    Type disease
    Gene product
    Name carbohydrate (N-Acetylglucosamine 6-0) sulfotransferase, point mutations in type I, deletions in type II
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function