Categories: Genetic diseases, Rare diseases, Nephrological diseases, Metabolic diseases
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Aliases & Descriptions for Cystinuria:
Orphanet epidemiological data:53
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000,1-5/10000 (Worldwide),1-9/100000 (Sweden); Age of onset: All ages; Age of death: normal life expectancy
cystinuria type b:
Inheritance: Autosomal dominant,Autosomal recessive
cystinuria type a:
Inheritance: Autosomal recessive
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Nephrological diseases
ICD10: 30 29
NIH Rare Diseases:47 Cystinuria is an inherited condition characterized by a buildup of the amino acid, cystine, in the kidneys and bladder. This leads to the formation of cystine crystals and/or stones which may block the urinary tract. Signs and symptoms of the condition are related to the presence of stones and may include nausea, hematuria, flank pain, and/or frequent urinary tract infections. Cystinuria is caused by changes (mutations) in the SLC3A1 and SLC7A9 genes and is inherited in an autosomal recessive manner. The goal of treatment is to relieve symptoms and prevent the formation of stones. Last updated: 5/12/2015
MalaCards based summary: Cystinuria, also known as csnu, is related to hypotonia-cystinuria syndrome and 2p21 microdeletion syndrome without cystinuria, and has symptoms including nephrolithiasis, hematuria and renal insufficiency. An important gene associated with Cystinuria is SLC7A9 (Solute Carrier Family 7 Member 9), and among its related pathways are Protein digestion and absorption and Cell surface interactions at the vascular wall. The drugs penicillamine and iodoquinol have been mentioned in the context of this disorder. Affiliated tissues include kidney, testes and colon, and related mouse phenotypes are renal/urinary system and homeostasis/metabolism.
UniProtKB/Swiss-Prot:69 Cystinuria: 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.
Genetics Home Reference:25 Cystinuria is a condition characterized by the buildup of the amino acid cystine, a building block of most proteins, in the kidneys and bladder. As the kidneys filter blood to create urine, cystine is normally absorbed back into the bloodstream. People with cystinuria cannot properly reabsorb cystine into their bloodstream, so the amino acid accumulates in their urine.
OMIM:51 Cystinuria is an autosomal disorder characterized by impaired epithelial cell transport of cystine and dibasic amino... (220100) more...
Disease Ontology:11 An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder.
Wikipedia:70 Cystinuria is an inherited autosomal recessivedisease that is characterized by high concentrations of... more...
Human phenotypes related to Cystinuria:63 53 (show all 11)
UMLS symptoms related to Cystinuria:traumatic hematuria, pneumatouria, chyluria
Drugs for Cystinuria (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 31)
Interventional clinical trials:(show all 14)
Search NIH Clinical Center for Cystinuria
Inferred drug relations via UMLS67/NDF-RT45:
MalaCards organs/tissues related to Cystinuria:35
Kidney, Testes, Colon, Retina, Skin, Breast, Spinal cord
Data from LifeMap, the Embryonic Development and Stem Cells Database
Cells/anatomical compartments in embryo or adult related to Cystinuria:
Articles related to Cystinuria:(show top 50) (show all 546)
UniProtKB/Swiss-Prot genetic disease variations for Cystinuria:69 (show all 83)
Clinvar genetic disease variations for Cystinuria:5 (show all 30)
Copy number variations for Cystinuria from CNVD:6
Search GEO for disease gene expression data for Cystinuria.
Pathways related to Cystinuria according to GeneCards Suite gene sharing:
Cellular components related to Cystinuria according to GeneCards Suite gene sharing:
Biological processes related to Cystinuria according to GeneCards Suite gene sharing:(show all 8)
Molecular functions related to Cystinuria according to GeneCards Suite gene sharing:(show all 7)
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet