Categories: Genetic diseases, Rare diseases, Nephrological diseases, Metabolic diseases
49OMIM, 32LifeMap Discovery®, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 24GTR, 65UMLS, 27ICD10, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
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Aliases & Descriptions for Cystinuria:
Orphanet epidemiological data:51
Inheritance: 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
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Nephrological diseases
ICD10: 28 27
NIH Rare Diseases:45 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 atypical hypotonia-cystinuria syndrome, and has symptoms including hematuria, nephrolithiasis and hyperuricemia. An important gene associated with Cystinuria is SLC7A9 (Solute Carrier Family 7 Member 9), and among its related pathways are Platelet activation, signaling and aggregation and Basigin interactions. The drugs penicillamine and iodoquinol have been mentioned in the context of this disorder. Affiliated tissues include kidney, prostate and bone, and related mouse phenotype homeostasis/metabolism.
Disease Ontology:10 An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder.
UniProtKB/Swiss-Prot:67 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:23 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:49 Cystinuria is an autosomal disorder characterized by impaired epithelial cell transport of cystine and dibasic amino... (220100) more...
Wikipedia:68 Cystinuria is an inherited autosomal recessivedisease that is characterized by the formation of cystine... more...
Symptoms by clinical synopsis from OMIM:220100
Clinical features from OMIM:220100
HPO human phenotypes related to Cystinuria:(show all 12)
UMLS symptoms related to Cystinuria:traumatic hematuria, pneumatouria, chyluria
Drugs for Cystinuria (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 15)
Interventional clinical trials:(show all 12)
Search NIH Clinical Center for Cystinuria
Inferred drug relations via UMLS65/NDF-RT43:
MalaCards organs/tissues related to Cystinuria:33
Kidney, Prostate, Bone, T cells, Liver, Monocytes, Thyroid
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 544)
UniProtKB/Swiss-Prot genetic disease variations for Cystinuria:67 (show all 83)
Clinvar genetic disease variations for Cystinuria:5 (show all 25)
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:
Molecular functions related to Cystinuria according to GeneCards Suite gene sharing:
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet