CSNU
MCID: CYS013
MIFTS: 67

Cystinuria (CSNU) malady

Nephrological, Metabolic categories

Summaries for Cystinuria

Sources:
8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Cystinuria is an inherited condition characterized by the buildup of cystine crystals or stones in the kidneys and bladder. cystine is an amino acid, one of the building blocks of proteins. 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 and the amino acid accumulates in their urine, eventually forming crystals. as these crystals become larger, they form stones that may lodge in the kidneys or in the bladder. sometimes cystine crystals combine with calcium molecules in the kidneys to form larger stones. these crystals and stones can create blockages in the urinary tract and reduce the ability of the kidneys to eliminate waste through urine. the stones also provide sites where bacteria may cause infections. cystinuria is caused by mutations in the slc3a1 and slc7a9 genes. it is inherited in an autosomal recessive pattern. the goal of treatment is to relieve symptoms and prevent more stones. last updated: 7/15/2013

MalaCards: Cystinuria, also known as CSNU, is related to nephrolithiasis and hartnup disease, and has symptoms including autosomal recessive inheritance, aminoacid metabolism anomalies/aminoaciduria and renal failure. An important gene associated with Cystinuria is SLC3A1 (solute carrier family 3 (amino acid transporter heavy chain), member 1), and among its related pathways are glutamate degradation X and proline biosynthesis II (from arginine). The drugs penicillamine and iodoquinol and the compounds delta(1)pyrroline-5-carboxylate and orotic acid have been mentioned in the context of this disorder. Affiliated tissues include skin, spinal cord and kidney, and related mouse phenotypes are renal/urinary system and homeostasis/metabolism.

Disease Ontology:8 An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder.

Genetics Home Reference:21 Cystinuria is a condition characterized by the buildup of cystine crystals or stones in the kidneys and bladder. Cystine is an amino acid, one of the building blocks of proteins. 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 and the amino acid accumulates in their urine.

Wikipedia:64 Cystinuria is an inherited autosomal recessivedisease that is characterized by the formation of cystine... more...

Description from OMIM:47 220100

Aliases & Classifications for Cystinuria

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 57SNOMED-CT, 40NCIt, 35MeSH, 62UMLS via Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Nephrological, Metabolic


Characteristics (Orphanet epidemiological data):

49
cystinuria:
Inheritance: Autosomal recessive; Prevalence: 1-5/10000; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

cystinuria 8 9 43 20 22 21 47 10 45 49 61
csnu 43 21
cystinuria - lysinuria 49
cystinuria-lysinuria 43
cystinuria type b 49
cystinuria type a 49


External Ids:

Disease Ontology8 DOID:9266
OMIM47 220100
NCIt40 C84664
MeSH35 D003555
UMLS via Orphanet62 C0010691, C0268646
MESH via Orphanet36 D003555
ICD10 via Orphanet26 E72.0
SNOMED-CT via Orphanet58 25646005, 85020001

Related Diseases for Cystinuria

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Cystinuria via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 53)
idRelated DiseaseScoreTop Affiliating Genes
1nephrolithiasis30.5SLC3A1, SLC7A9
2hartnup disease30.0SLC1A5, SLC6A19
3aminoaciduria30.0SLC3A1, SLC7A9, SLC6A19
4hyperlysinemia29.8OTC, SCCPDH
5phenylketonuria29.8SLC7A5, OTC
6lysinuric protein intolerance29.8SLC7A5, SLC3A1, SLC3A2, SLC7A7, OTC
7hypotonia-cystinuria syndrome10.4
8hypotonia10.3
9n syndrome10.3
10atypical hypotonia - cystinuria syndrome10.3
11hyperuricemia10.2
12fanconi syndrome10.2
13cystinosis10.2
14gyrate atrophy10.1
15mental retardation10.1
162p21 microdeletion syndrome without cystinuria10.1
17homocystinuria10.1
18arthritis10.1
19orotic aciduria10.0OTC
20reye syndrome10.0OTC
21maple syrup urine disease10.0OTC
22pellagra10.0SLC1A5, SLC6A19
23choriocarcinoma10.0SLC7A5
24hyperammonemia multi-gene panels10.0SLC7A7, OTC, OAT
25metabolic syndrome x10.0OAT, OTC, SLC3A1
26eye disease10.0OAT, OTC
27familial nephrotic syndrome9.9
28bardet-biedl syndrome9.9
29xanthogranulomatous pyelonephritis9.9
30primary hyperparathyroidism9.9
31alkaptonuria9.9
32renal pelvis squamous cell carcinoma9.9
33muscular atrophy9.9
34erythropoietic protoporphyria9.9
35ureterolithiasis9.9
36down syndrome9.9
37renal tubular acidosis9.9
38acute leukemia9.9
39propionic acidemia9.9
40spinal muscular atrophy9.9
41squamous cell carcinoma9.9
42albinism9.9
4322q11.2 duplication9.9
44wells syndrome9.9
45chromosome 2p deletion9.9
46congenital myotonic dystrophy9.9
47pentosuria9.9
48muckle-wells syndrome9.9
49saccharopinuria9.9
50ataxia9.9

Graphical network of the top 20 diseases related to Cystinuria:



Diseases related to cystinuria

Clinical Features for Cystinuria

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

220100

Clinical synopsis from OMIM:

220100

Symptoms:

49 (show all 6)
  • autosomal recessive inheritance
  • aminoacid metabolism anomalies/aminoaciduria
  • renal failure
  • hyperuricemia
  • hematuria/microhematuria
  • urinary/renal lithiasis/kidney stones/nephritic colic

Drugs & Therapeutics for Cystinuria

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Cystinuria

Drug clinical trials:

Search ClinicalTrials for Cystinuria

Search NIH Clinical Center for Cystinuria

Search CenterWatch for Cystinuria

Inferred drug relations via UMLS61/NDF-RT41:

Genetic Tests for Cystinuria

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Cystinuria:

id Genetic test Affiliating Genes
1 Cystinuria20 22 SLC7A9

Anatomical Context for Cystinuria

Sources:
31LifeMap Discovery™, 33MalaCards
See all sources

MalaCards organs/tissues related to Cystinuria:

33
Skin, Spinal cord, Kidney, Retina, Small intestine, Colon, Breast, T cells, B lymphoblasts, B cells

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Cystinuria:
id TissueAnatomical CompartmentCell Relevance
1 KidneyProximal TubuleProximal Tubule Cells Potential therapeutic candidate, affected by disease

Animal Models for Cystinuria or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Cystinuria:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.3SLC7A9, SLC3A1, SLC7A7, OTC, OAT, SLC6A19
2MP:00053767.9OAT, PYCARD, SLC6A19, SLC7A9, SLC7A10, SLC3A1

Publications for Cystinuria

Sources:
51PubMed
See all sources

Articles related to Cystinuria:

(show top 50)    (show all 509)
idTitleAuthorsYear
1
Synergistic mutations in SLC3A1 and SLC7A9 leading to heterogeneous cystinuria phenotypes: pitfalls in the diagnostic workup. (24045899)
2014
2
Clinical utility gene card for: Cystinuria. (21863055)
2012
3
Cystinuria. (18359399)
2008
4
Human gene mutations. Gene symbol: SLC3A1. Disease: cystinuria. (18386351)
2007
5
Cystinuria: from diagnosis to follow-up]. (17913667)
2007
6
Human gene mutations. Gene symbol: SLC3A1. Disease: cystinuria. (18386386)
2007
7
Novel human pathological mutations. Gene symbol: SLC3A1. Disease: cystinuria. (18383599)
2007
8
The real diagnosis of cystinuria. (17495497)
2007
9
Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome. (16385448)
2006
10
Gene symbol: SLC3A1. Disease: cystinuria. (15818834)
2005
11
Gene symbol: SLC7A9. Disease: cystinuria, type non-I. (15818837)
2005
12
Gene symbol: SLC7A9. Disease: cystinuria, untyped. (15818820)
2005
13
Transient neonatal cystinuria. (15673291)
2005
14
Gene symbol: SLC7A9. Disease: cystinuria, type non-I. (15818818)
2005
15
In vitro and ex vivo gene delivery into proximal tubular cells by means of laser energy--a potential approach for curing cystinuria? (14722697)
2004
16
Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes. (12234283)
2002
17
Necessary practical treatment of cystinuria at night. (11045403)
2000
18
Clinical aspects of cystinuria. (9399060)
1997
19
Medical treatment of cystinuria: results of contemporary clinical practice. (8863541)
1996
20
Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism. (8792820)
1996
21
Recent advances in the biochemical and molecular biological basis of cystinuria. (8911353)
1996
22
Urinary excretion of free cystine and the tiopronin-cysteine-mixed disulfide during long term tiopronin treatment of cystinuria. (8569983)
1995
23
The effect of sodium intake on cystinuria with and without tiopronin treatment. (8587620)
1995
24
Prospective analysis and classification of patients with cystinuria identified in a newborn screening program. (8463902)
1993
25
Hyperlipidemia associated with alpha-mercaptopropionylglycine therapy for cystinuria. (1739102)
1992
26
Captopril is not clinically useful in reducing the cystine load in cystinuria or cystinosis. (2025551)
1991
27
Cystinuria: a review of the pathophysiology and management. (2671407)
1989
28
Cystinuria. (3077031)
1988
29
Investigations on the early diagnosis of cystinuria in children. (3141195)
1988
30
Cystinuria--an experience in management over 18 years. (3627053)
1987
31
5-Hydroxy-L-lysine excretion in cystinuria. (3939588)
1985
32
Studies on the metabolism of D-penicillamine and its interaction with probenecid in cystinuria and rheumatoid arthritis. (6481720)
1984
33
Disappearance of cystinuria after kidney transplantation. (6414569)
1983
34
Metabolic disturbances in cystinuria. (6183121)
1982
35
A new screening method for cystinuria. A simple and safe screening kit. (494439)
1979
36
Evaluation of the nitroprusside test for the diagnosis of cystinuria. (895650)
1977
37
Homozygous cystinuria and the oculo-cerebro-renal dystrophy of Lowe in same family. (962366)
1976
38
The long-term management of cystinuria. (828494)
1976
39
Cystinuria: a surgical challenge. (1136082)
1975
40
A study of the renal handling and intestinal absorption of dibasic amino acids in a patient with genotype +/11 heterozygous cystinuria and idiopathic hypercalcuria. (1120363)
1975
41
Canine cystinuria: intestinal and renal amino acid transport. (4641204)
1972
42
Observations during treatment of cystinuria with D-penicillamine. (5578487)
1971
43
Cystathioninuria in a patient with cystinuria. (5788464)
1969
44
D-penicillamine therapy in cystinuria. (5903040)
1966
45
Cystinuria: biochemical evidence for three genetically distinct diseases. (5904553)
1966
46
Cystinuria and cystine urolithiasis in childhood. (5919477)
1966
47
Two cases of cystinuria. (5851538)
1965
48
DEFECTIVE UPTAKE OF BASIC AMINO ACIDS AND L-CYSTINE BY INTESTINAL MUCOSA OF PATIENTS WITH CYSTINURIA. (14201536)
1964
49
The aetiology of canine cystinuria. (5890836)
1964
50
A rapid spot test for the determination of cystinuria and aminoaciduria. (13893181)
1961

Genetic Variations for Cystinuria

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Cystinuria:

63 (show all 51)
id Symbol AA change Variation SNP ID
1SLC3A1p.Pro128GlnVAR_011420
2SLC3A1p.Arg181GlnVAR_011421
3SLC3A1p.Glu268LysVAR_011422
4SLC3A1p.Thr341AlaVAR_011423
5SLC3A1p.Arg365TrpVAR_011424
6SLC3A1p.Arg452TrpVAR_011425
7SLC3A1p.Tyr461HisVAR_011426rs144162964
8SLC3A1p.Met467ThrVAR_011427
9SLC3A1p.Met467LysVAR_011428
10SLC3A1p.Tyr582HisVAR_011429
11SLC3A1p.Pro615ThrVAR_011430
12SLC3A1p.Phe648SerVAR_011432
13SLC3A1p.Thr652ArgVAR_011433
14SLC3A1p.Leu678ProVAR_011434
15SLC3A1p.Thr216MetVAR_022600
16SLC3A1p.Arg362CysVAR_022601
17SLC3A1p.Pro508AlaVAR_022602
18SLC3A1p.Tyr151CysVAR_038200
19SLC3A1p.Asn253LysVAR_038201
20SLC3A1p.Arg362HisVAR_038202
21SLC3A1p.Gly398ArgVAR_038203
22SLC3A1p.Gly481ValVAR_038204
23SLC3A1p.Glu482LysVAR_038205
24SLC3A1p.Gln510ArgVAR_038206
25SLC3A1p.Arg584ThrVAR_038207
26SLC3A1p.Phe599SerVAR_038208
27SLC3A1p.Gly600GluVAR_038209
28SLC3A1p.Pro122SerVAR_064040
29SLC7A9p.Gly105ArgVAR_010256rs121908480
30SLC7A9p.Val170MetVAR_010257
31SLC7A9p.Ala182ThrVAR_010258rs79389353
32SLC7A9p.Gly195ArgVAR_010259
33SLC7A9p.Gly259ArgVAR_010260
34SLC7A9p.Ile44ThrVAR_014363
35SLC7A9p.Pro261LeuVAR_014364
36SLC7A9p.Ala354ThrVAR_014365
37SLC7A9p.Val330MetVAR_015885
38SLC7A9p.Pro52LeuVAR_018998
39SLC7A9p.Gly63ArgVAR_018999
40SLC7A9p.Trp69LeuVAR_019000
41SLC7A9p.Ala70ValVAR_019001
42SLC7A9p.Thr123MetVAR_019002rs79987078
43SLC7A9p.Ala126ThrVAR_019003
44SLC7A9p.Ile187PheVAR_019005
45SLC7A9p.Trp230ArgVAR_019008
46SLC7A9p.Ile241ThrVAR_019009
47SLC7A9p.Arg333TrpVAR_019011
48SLC7A9p.Ser379ArgVAR_019012
49SLC7A9p.Ala382ThrVAR_019013
50SLC7A9p.Ala224ValVAR_022603
51SLC7A9p.Ala331ValVAR_022604

Expression for genes affiliated with Cystinuria

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Cystinuria

Search GEO for disease gene expression data for Cystinuria.

Pathways for genes affiliated with Cystinuria

Sources:
38NCBI BioSystems Database, 54Reactome, 4Cell Signaling Technology, 30KEGG
See all sources

Compounds for genes affiliated with Cystinuria

Sources:
45Novoseek, 11DrugBank, 24HMDB, 29IUPHAR, 60Tocris Bioscience
See all sources

Compounds related to Cystinuria according to GeneCards/GeneDecks:

(show all 25)
idCompoundScoreTop Affiliating Genes
1delta(1)pyrroline-5-carboxylate4510.3OAT, OTC
2orotic acid45 11 2412.3OAT, OTC
3l-ornithine29 1111.3OAT, OTC
4carbamoyl phosphate4510.2OAT, OTC
52-aminobicyclo(2,2,1)heptane-2-carboxylic acid4510.1SLC7A8, SLC7A5
6S-(Methylmercury)-L-Cysteine1110.1SLC7A8, SLC7A5
7diethylmaleate4510.0SLC3A2, SLC7A11
8l-arginine29 11 2412.0SLC7A7, SLC3A2
9L-Leucine11 2411.0SLC7A8, SLC3A2
10ecori4510.0OAT, OTC
11L-Cysteine11 2410.9SLC7A8, SLC3A2
12ornithine45 2410.8SLC7A5, SLC3A1, SLC7A7, OTC, OAT
13L-Cystine11 2410.7SLC1A4, SLC7A9, SLC3A1, SLC7A11
14l-alanine29 60 11 2412.7SLC7A8, SLC1A4
15arginine459.5SLC7A5, SLC3A1, SLC3A2, SLC7A7, OTC, OAT
16glutamine459.5SLC7A5, SLC1A4, SLC1A5, OTC, OAT
17l-glutamine29 11 2411.4SLC1A5, SLC7A8
18cystine459.4SLC7A11, SLC3A2, SLC3A1, SLC7A8, SLC7A9
19phenylalanine459.3SLC7A5, SLC1A4, SLC7A8, SLC3A1, SLC3A2
20leucine459.1SLC7A5, SLC1A4, SLC7A8, SLC3A1, SLC3A2, OTC
21alanine459.0SLC7A5, SLC1A4, SLC7A8, SLC3A1, SLC3A2, SLC1A5
22threonine458.8PPM1B, SLC1A4, SLC7A8, SLC3A2, OTC
23serine458.8PPM1B, SLC7A5, SLC1A4, SLC7A10, SLC3A1, SLC3A2
24glutamate458.7SLC1A4, SLC6A19, SLC3A1, SLC3A2, SLC1A5, SLC7A11
25sodium45 248.7OTC, SLC7A5, SLC1A4, SLC6A19, SLC7A9, SLC7A10

GO Terms for genes affiliated with Cystinuria

Sources:
16Gene Ontology
See all sources

Cellular components related to Cystinuria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1melanosomeGO:0424709.5SLC1A5, SLC3A2, SLC1A4
2integral to plasma membraneGO:0058878.3SLC1A5, SLC1A4, SLC6A19, SLC7A9, SLC7A10, SLC7A8
3plasma membraneGO:0058866.9SLC7A5, SLC1A4, SLC6A19, SLC7A9, SLC7A10, SLC44A3

Biological processes related to Cystinuria according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1L-serine transportGO:0158259.9SLC1A4, SLC7A10
2negative regulation of interferon-beta productionGO:0326889.9PYCARD, PPM1B
3L-cystine transportGO:0158119.9SLC3A1, SLC7A9, SLC1A4
4negative regulation of I-kappaB kinase/NF-kappaB cascadeGO:0431249.8PPM1B, PYCARD
5glutamine transportGO:0068689.7SLC1A4, SLC1A5
6cellular amino acid metabolic processGO:0065209.4SLC7A5, SLC7A9, SLC7A8, SLC3A1, SLC7A7
7neutral amino acid transportGO:0158049.4SLC7A5, SLC7A9, SLC7A10, SLC7A8, SLC1A5
8transportGO:0068109.1SLC7A7, SLC7A8, SLC7A9, SLC7A5
9leukocyte migrationGO:0509008.8SLC7A5, SLC7A9, SLC7A10, SLC7A8, SLC3A2, SLC7A7
10blood coagulationGO:0075968.7SLC7A5, SLC7A9, SLC7A10, SLC7A8, SLC3A2, SLC7A7
11ion transportGO:0068117.8SLC7A9, SLC6A19, SLC1A4, SLC7A5, SLC7A10, SLC7A8
12amino acid transportGO:0068657.7SLC7A11, SLC1A5, SLC7A7, SLC3A2, SLC3A1, SLC7A8
13transmembrane transportGO:0550857.5SLC7A11, SLC1A5, SLC7A7, SLC3A2, SLC3A1, SLC7A8

Molecular functions related to Cystinuria according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1cation bindingGO:04316910.1SLC3A2, SLC3A1
2L-serine transmembrane transporter activityGO:0151949.9SLC1A4, SLC7A10
3L-cystine transmembrane transporter activityGO:0151849.9SLC1A4, SLC7A9, SLC3A1
4sodium:dicarboxylate symporter activityGO:0171539.8SLC1A5, SLC1A4
5peptide antigen bindingGO:0426059.7SLC7A8, SLC7A9, SLC7A5
6L-amino acid transmembrane transporter activityGO:0151799.7SLC7A8, SLC7A5
7L-glutamine transmembrane transporter activityGO:0151869.5SLC1A5, SLC1A4
8amino acid transmembrane transporter activityGO:0151719.4SLC7A7, SLC3A1, SLC7A8, SLC7A9, SLC7A5
9neutral amino acid transmembrane transporter activityGO:0151758.9SLC1A5, SLC7A5, SLC6A19, SLC7A9, SLC7A10, SLC7A8

Products for genes affiliated with Cystinuria

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cystinuria

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet