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GTR Home > Conditions/Phenotypes > Cystinuria

Cystinuria

Synonyms
CYSTINURIA, TYPE I; CYSTINURIA, TYPE II; CYSTINURIA, TYPE III; Cystinuria, non-type I
Modes of inheritance
Autosomal recessive inheritance (Orphanet)
Semidominant inheritance (Orphanet)

Summary

Cystinuria 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). [from OMIM]

Available tests

62 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (60 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: ATR1, CSNU1, D2H, NBAT, RBAT, SLC3A1
    Summary: solute carrier family 3 member 1

  • Also known as: BAT1, CSNU3, SLC7A9
    Summary: solute carrier family 7 member 9

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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