<unk>  has an autosomal recessive pattern of inheritance.<unk>  occurs due to a mutation in the gene CTNS, located on chromosome 17, which codes for<unk> , the lysosomal cystine transporter. Symptoms are first seen at about 3 to 18 months of age with profound polyuria (excessive urination), followed by poor growth, photophobia, and ultimately kidney failure by age 6 years in the nephropathic form. All forms of<unk>  (nephropathic, juvenile and ocular) are autosomal recessive, which means that the trait is located on an autosomal chromosome, and an individual who inherits two copies of the gene – one from both parents – will have the disorder. There is a 25% risk of having a child with the disorder, when both parents are carriers of an autosomal recessive trait.<unk>  affects approximately 1 in 100,000 to 200,000 newborns. and there are only around 2,000 known individuals with<unk>  in the world. The incidence is higher in the province of Brittany, France, where the disorder affects 1 in 26,000 individuals.
Cystinosis
Xanthinuria
Iminoglycinuria
Chalicosis
Saccharopinuria
Isosthenuria
Onychauxis
Median nail dystrophy