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last update : 18-01-2012
Symbol LCCH
Location 3q25
Name low copper and ceruloplasmin with congenital cataracts and hearing loss
Corresponding gene SLC33A1
Main clinical features
  • congenital cataracts, hearing loss, severe developmental delay, and cerebellar hypoplasia and is associated with low serum copper and ceruloplasmin
  • cortical and cerebellar hypoplasia and hypomyelination
  • Genetic determination autosomal recessive
    Function/system disorder ear
    Type disease
  • mutation severely impair the function of SLC33A1 by leading to a shortened or absent protein
  • treatment with copper did not result in an increase in copper or ceruloplasmin levels in serum (PMID: 22243965))