GENETIC ENCYCLOPEDIA
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disease: Cystinuria

id1217
nameCystinuria
descriptionCystinuria is an autosomal disorder characterized by impaired epithelial cell transport of cystine and dibasic amino acids (lysine, ornithine, and arginine) in the proximal renal tubule and gastrointestinal tract. The impaired renal reabsorption of cystine and its low solubility causes the formation of calculi in the urinary tract, resulting in obstructive uropathy, pyelonephritis, and, rarely, renal failure (summary by Barbosa et al., 2012).
variant-disease NM_014270.5(SLC7A9):c.*20C>T AND Cystinuria
NM_014270.5(SLC7A9):c.526G>A (p.Val176Ile) AND Cystinuria
NM_000341.4(SLC3A1):c.1354C>T (p.Arg452Trp) AND Cystinuria
NM_014270.5(SLC7A9):c.228G>C (p.Ala76=) AND Cystinuria
NM_014270.5(SLC7A9):c.1074+14C>A AND Cystinuria
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