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last update : 05-12-2012
Symbol CTNS
Location 17p13.3
Name cystinosis, infantile, nephropathic
Corresponding gene CTNS
Other symbol(s) CSTS1
Main clinical features
  • onset in the first year of live, tubular dysfunction (renal Fanconi syndrome) without glomerular changes, progressing throughout the first decade of life resulting in end stage renal failure
  • three phenotypic forms have been described: infantile, intermediate, and ocular non-nephropathic cystinosis (PMID: 21553323))
  • Genetic determination autosomal recessive
    Function/system disorder kidney and urinary tract
    metabolism/membrane transport
    Type disease
    Gene product
    Name cystinosin
    Gene mutationChromosome rearrangementEffectComments
    deletion   abnormal protein/loss of function  
    missense   abnormal protein/loss of function  
    Genotype/Phenotype correlations
  • 24 missense mutations, seven in-frame deletions or insertions, associated with loss of function
  • may be a modifier for the cystinosis phenotype (deletion of 57kb have elevated concentrations of sedoheptulose an decreased SHPK activity in fibroblasts due to deficiency of the SHPK gene)
  • also point mutations i-e G339R in the SW Ontario Amisth Mennonite population
  • a 21-bp in-frame deletion in exon 5 (c. 198_218del21), resulting in an in-frame deletion of 7 AAs from the N-terminal domain of the cystinosin protein, is associated with relatively mild extra-renal disease (PMID: 21553323))