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... > Urogenital Diseases > Female Urogenital Diseases and Pregnancy Complications > Female Urogenital Diseases > Urologic Diseases > Kidney Diseases > Renal Tubular Transport, Inborn Errors > Renal Aminoacidurias > Cystinuria
... > Urogenital Diseases > Male Urogenital Diseases > Urologic Diseases > Kidney Diseases > Renal Tubular Transport, Inborn Errors > Renal Aminoacidurias > Cystinuria
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Renal Tubular Transport, Inborn Errors > Renal Aminoacidurias > Cystinuria
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Renal Tubular Transport, Inborn Errors > Renal Aminoacidurias > Cystinuria

Preferred term

Cystinuria  

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  • Topical Descriptor

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Scope note

  • An inherited disorder due to defective reabsorption of CYSTINE and other BASIC AMINO ACIDS by the PROXIMAL RENAL TUBULES. This form of aminoaciduria is characterized by the abnormally high urinary levels of cystine; LYSINE; ARGININE; and ORNITHINE. Mutations involve the amino acid transport protein gene SLC3A1.

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URI

http://www.yso.fi/onto/mesh/D003555

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