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GENATLAS PHENOTYPE
last update : 19/06/2006
Symbol CLOJ
Location 17p13.3
Name cystinosis, late-onset juvenile or adolescent nephropathic type
Other name(s) cystinosis, intermediate
Corresponding gene CTNS
Main clinical features
  • proteinuria due to glomerular damage rather than with the manifestations of tubular damage that occur first in infantile cystinosis, no excess amino aciduria and stature is normal, photophobia, late development of pigmentary retinopathy, and chronic headaches are features
  • Genetic determination autosomal recessive
    Function/system disorder kidney and urinary tract
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function an intronic mutation, C-to-G transversion at nucleotide 801 -10, resulting in the formation of an alternative splice site upstream of the normal site