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Disease Cystinuria

Name Cystinuria
Synonyms CSNU | CSNU1, FORMERLY | CSNU3, FORMERLY | Cystinurias | CYSTINURIA, TYPE A/B, INCLUDED | CYSTINURIA, TYPE B, INCLUDED | CYSTINURIA, TYPE I, FORMERLY | CYSTINURIA, TYPE II, FORMERLY | CYSTINURIA, TYPE III, FORMERLY | CYSTINURIA, TYPE NON-I, FORMERLY CYSTINURIA, TYPE A, INCLUDED
Definition 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.
Categories Genetic disease (inborn) | Metabolic disease | Urogenital disease (female) | Urogenital disease (male)
MeSH® ID D003555
OMIM® ID 220100
External Links

Top ↑ Ancestors

1. DiseasesMale Urogenital Diseases Has associated chemicals Has associated genes Has associated exposure references Urologic Diseases Has associated chemicals Has associated genes Has associated exposure references Kidney Diseases Has associated chemicals Has associated genes Has associated exposure references Renal Tubular Transport, Inborn Errors Has associated chemicals Has associated genes Renal Aminoacidurias Has associated chemicals Has associated genes Cystinuria Has associated chemicals Has associated genes
2. DiseasesFemale Urogenital Diseases and Pregnancy Complications Has associated chemicals Has associated genes Has associated exposure references Female Urogenital Diseases Has associated chemicals Has associated genes Has associated exposure references Urologic Diseases Has associated chemicals Has associated genes Has associated exposure references Kidney Diseases Has associated chemicals Has associated genes Has associated exposure references Renal Tubular Transport, Inborn Errors Has associated chemicals Has associated genes Renal Aminoacidurias Has associated chemicals Has associated genes Cystinuria Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Renal Tubular Transport, Inborn Errors Has associated chemicals Has associated genes Renal Aminoacidurias Has associated chemicals Has associated genes Cystinuria Has associated chemicals Has associated genes
4. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Renal Tubular Transport, Inborn Errors Has associated chemicals Has associated genes Renal Aminoacidurias Has associated chemicals Has associated genes Cystinuria Has associated chemicals Has associated genes

Top ↑ Descendants

Cystinuria Has associated chemicals Has associated genes
  Cystinuria type 1
  Cystinuria, Type A
  Hypotonia-Cystinuria Syndrome Has associated chemicals Has associated genes