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cystinuria

Disease Summary
Associated Targets (3)
Tbio

2

Tchem

1


Uniprot Description 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.
Disease Ontology Description An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder.
DataSource References
JensenLab Text Mining:  DOID:9266
CTD:  DOID:9266
JensenLab Knowledge MedlinePlus:  DOID:9266
JensenLab Knowledge UniProtKB-KW:  DOID:9266
eRAM:  DOID:9266
UniProt Disease:  MIM:220100
Monarch:  OMIM:220100
DisGeNET:  UMLS:C0010691
Target Novelty (Tin-x)