Related MeSH Hierarchy (4)
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Renal Tubular Transport, Inborn Errors » Renal Aminoacidurias » Cystinuria
Diseases [C] » Urogenital Diseases [C12] » Female Urogenital Diseases and Pregnancy Complications » Female Urogenital Diseases » Urologic Diseases » Kidney Diseases » Renal Tubular Transport, Inborn Errors » Renal Aminoacidurias » Cystinuria
Diseases [C] » Urogenital Diseases [C12] » Male Urogenital Diseases » Urologic Diseases » Kidney Diseases » Renal Tubular Transport, Inborn Errors » Renal Aminoacidurias » Cystinuria
Diseases [C] » Urogenital Diseases [C12] » Urologic Diseases » Kidney Diseases » Renal Tubular Transport, Inborn Errors » Renal Aminoacidurias » Cystinuria
Description
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. MeSH
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Approved Indicated Drugs (2)
Phase 2 Indicated Drugs (3)
Other Experimental Indicated Drugs (1)
Organization Involved with Phase 3 Indications (1)
Organization Involved with Phase 2 Indications (8)
Organization Involved with Other Experimental Indications (2)
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UMLS Data
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