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References OMIM Gene GeneReviews HGMD HGNC
last update : 17/07/2006
Symbol COATS
Location Xp11.3
HGNC id 2497
Name Coats disease
Other name(s) retinal telangiectasia
Corresponding gene NDP
Other symbol(s) CTD
Main clinical features
  • abnormal retinal development which results in massive subretinal lipid accumulation (exudative retinal detachment), almost invariably isolated, unilateral and seen in males, a female with a variant giving birth to a son affected with Norrie disease
  • Genetic determination sex linked
    Function/system disorder eye
    Type disease
    Gene product
    Name NDP, norrin, somatic mutations