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References OMIM Gene GeneReviews HGMD HGNC
last update : 26-10-2018
Symbol CTRCT38
Location 7q34
Name cataract 38, autosomal recessive
Corresponding gene AGK
Main clinical features
  • bilateral and total cataract in the first weeks of life, with nystagmus and strabismus
  • nonsyndromic congenital cataract
  • Genetic determination autosomal recessive
    Function/system disorder eye
    Type disease
  • loss of AGK led to a decrease of the adenine nucleotide translocator in the inner mitochondrial membrane in muscle (PMID: 22284826))