MCID: CYS013
MIFTS: 67

Cystinuria malady

Genetic diseases, Rare diseases, Nephrological diseases, Metabolic diseases categories

Aliases & Classifications for Cystinuria

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Sources:
45OMIM, 30LifeMap Discovery®, 9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 38NCIt, 55SNOMED-CT, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Cystinuria, Aliases & Descriptions:

Name: Cystinuria 45 30 9 10 41 20 21 11 43 47 22 60
Cystinuria - Lysinuria 41 47
 
Csnu 41 21
Cystinuria-Lysinuria 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
cystinuria:
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


External Ids:

OMIM45 220100
Disease Ontology9 DOID:9266
NCIt38 C84664
MeSH33 D003555
Orphanet47 214
MESH via Orphanet34 D003555
ICD10 via Orphanet26 E72.0
UMLS via Orphanet61 C0010691, C0268646

Summaries for Cystinuria

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NIH Rare Diseases:41 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 based summary: Cystinuria, also known as cystinuria - lysinuria, is related to nephrolithiasis and aminoaciduria, and has symptoms including nephrolithiasis, hematuria and aminoaciduria. 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 Glucose / Energy Metabolism. 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 kidney, testes and colon, and related mouse phenotypes are renal/urinary system and homeostasis/metabolism.

Disease Ontology:9 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 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:45 Cystinuria is an autosomal disorder characterized by impaired epithelial cell transport of cystine and dibasic amino... (220100) more...

Wikipedia:63 Cystinuria is an inherited autosomal recessivedisease that is characterized by the formation of cystine... more...

Related Diseases for Cystinuria

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Diseases in the Cystinuria family:

Cystinuria Type B Cystinuria Type a

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

(show top 50)    (show all 53)
idRelated DiseaseScoreTop Affiliating Genes
1nephrolithiasis31.0SLC3A1, SLC7A9
2aminoaciduria30.6SLC7A9, SLC3A1
3hyperlysinemia30.1OTC, SCCPDH
4lysinuric protein intolerance30.0SLC7A7, SLC3A2, SLC3A1, OTC
5hypotonia-cystinuria syndrome10.5
6hypotonia10.4
7hartnup disorder10.3SLC1A5
8orotic aciduria10.3OTC
9atypical hypotonia - cystinuria syndrome10.3
10hyperuricemia10.2
11fanconi syndrome10.2
12cystinosis10.2
132p21 microdeletion syndrome without cystinuria10.2
14cystinuria type b10.2
15nephrotic syndrome10.2
16mental retardation10.2
17cystinuria type a10.2
18rheumatoid arthritis10.1
19cystathioninuria10.1
20arthritis10.1
21homocystinuria10.1
22choroiditis10.1
23hyperammonemia multi-gene panels10.1OTC, SLC7A7, OAT
24spiradenoma10.0OTC, OAT
25metabolic syndrome x10.0OAT, SLC3A1, OTC
26muckle-wells syndrome9.9
27alkaptonuria9.9
28beckwith-wiedemann syndrome9.9
29saccharopinuria9.9
30pyruvate carboxylase deficiency9.9
31phenylketonuria9.9
32leukemia9.9
33renal tubular acidosis9.9
34spinal muscular atrophy9.9
35bardet-biedl syndrome9.9
36muscular atrophy9.9
37duodenitis9.9
38xanthogranulomatous pyelonephritis9.9
39primary hyperparathyroidism9.9
40ureterolithiasis9.9
41dermatomyositis9.9
42hyperparathyroidism9.9
43lymphoblastic leukemia9.9
44paraplegia9.9
45pyelonephritis9.9
46retinitis9.9
47albinism9.9
48myotonic dystrophy9.9
49growth hormone deficiency9.9
50pentosuria9.9

Graphical network of the top 20 diseases related to Cystinuria:



Diseases related to cystinuria

Symptoms for Cystinuria

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Symptoms by clinical synopsis from OMIM:

220100

Clinical features from OMIM:

220100

Symptoms:

 47
  • urinary/renal lithiasis/kidney stones/nephritic colic
  • hematuria/microhematuria
  • aminoacid metabolism anomalies/aminoaciduria
  • autosomal recessive inheritance
  • renal failure
  • hyperuricemia

HPO human phenotypes related to Cystinuria:

(show all 16)
id Description Frequency HPO Source Accession
1 nephrolithiasis hallmark (90%) HP:0000787
2 hematuria hallmark (90%) HP:0000790
3 aminoaciduria hallmark (90%) HP:0003355
4 renal insufficiency typical (50%) HP:0000083
5 hyperuricemia typical (50%) HP:0002149
6 autosomal dominant inheritance HP:0000006
7 autosomal recessive inheritance HP:0000007
8 recurrent urinary tract infections HP:0000010
9 renal insufficiency HP:0000083
10 abnormality of the nervous system HP:0000707
11 nephrolithiasis HP:0000787
12 cystinuria HP:0003131
13 argininuria HP:0003268
14 hyperlysinuria HP:0003297
15 ornithinuria HP:0003532
16 variable expressivity HP:0003828

Drugs & Therapeutics for Cystinuria

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Drug clinical trials:

Search ClinicalTrials for Cystinuria

Search NIH Clinical Center for Cystinuria

Inferred drug relations via UMLS60/NDF-RT39:

Genetic Tests for Cystinuria

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Genetic tests related to Cystinuria:

id Genetic test Affiliating Genes
1 Cystinuria20 22 SLC7A9

Anatomical Context for Cystinuria

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MalaCards organs/tissues related to Cystinuria:

31
Kidney, Testes, Colon, Retina, Bone, Spinal cord, Breast, Skin

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

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

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MGI Mouse Phenotypes related to Cystinuria:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.3OTC, SLC7A9, SLC3A1, SLC7A7, OAT
2MP:00053768.0OTC, OAT, SLC7A11, SLC7A7, SLC7A10, SLC3A2

Publications for Cystinuria

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Articles related to Cystinuria:

(show top 50)    (show all 518)
idTitleAuthorsYear
1
CKD and Its Risk Factors among Patients with Cystinuria. (25717071)
2015
2
Cystinuria-a urologist's perspective. (24662732)
2014
3
Nephrotic syndrome occurring during tiopronin treatment for cystinuria. (20924604)
2011
4
Impact of a metabolic stone clinic on management of patients with cystinuria: 5 years follow-up. (20931157)
2010
5
Human gene mutations. Gene symbol: SLC3A1. Disease: cystinuria. (18386351)
2007
6
LC-MS/MS determination of dibasic amino acids for the diagnosis of cystinuria. Application in a family affected by a novel splice-acceptor site mutation in the SLC7A9 gene. (17701443)
2007
7
Novel human pathological mutations. Gene symbol: SLC7A9. Disease: cystinuria. (18383602)
2007
8
Human gene mutations. Gene symbol: SLC3A1. Disease: cystinuria. (18386348)
2007
9
Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria. (18386361)
2007
10
Cystinuria: from diagnosis to follow-up]. (17913667)
2007
11
Efficient screening of the cystinuria-related C663T Slc3a1 nonsense mutation in Newfoundland dogs by denaturing high-performance liquid chromatography. (16566266)
2006
12
SLC7A9 gene variation: impact of 13 frequent mutations in the etiology of cystinuria in a Spanish Mediterranean population]. (16834950)
2006
13
Gene symbol: SLC7A9. Disease: cystinuria, type non-I. (15818819)
2005
14
Identification of novel cystinuria mutations and polymorphisms in SLC3A1 and SLC7A9 genes: absence of SLC7A10 gene mutations in cystinuric patients. (16225397)
2005
15
Detection of the major mutation M467T causing cystinuria by single-strand conformation polymorphism analysis using capillary electrophoresis. (14730569)
2004
16
The amino acid transporter asc-1 is not involved in cystinuria. (15458438)
2004
17
From gene to disease; SLC3A1, SLC7A9 and cystinuria]. (12621979)
2003
18
SLC7A9 mutations in all three cystinuria subtypes. (12371955)
2002
19
Cystinuria at the turn of the millennium: clinical aspects and new molecular developments. (11156709)
2000
20
The molecular basis of cystinuria: an update. (10810228)
2000
21
Advances in genetic aspects of cystinuria. (11156708)
2000
22
Medical treatment of cystinuria: critical reappraisal of long-term results. (10751848)
2000
23
Cystinuria calls for heteromultimeric amino acid transporters. (9719865)
1998
24
Pathogenesis and medical management of cystinuria. (8890399)
1996
25
Medical treatment of cystinuria: results of contemporary clinical practice. (8863541)
1996
26
The molecular basis of cystinuria: the role of the rBAT gene. (24178689)
1996
27
Molecular screening of genetic defects with RNA-SSCP analysis: the PKU and cystinuria model. (7477014)
1995
28
Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria. (7568194)
1995
29
Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S177 to 2p16 by fluorescence in situ hybridization. (7789946)
1995
30
Urinary excretion of free cystine and the tiopronin-cysteine-mixed disulfide during long term tiopronin treatment of cystinuria. (8569983)
1995
31
Mutations in the SLC3A1 transporter gene in cystinuria. (7539209)
1995
32
Assignment of the gene for cystinuria (SLC3A1) to human chromosome 2p21 by fluorescence in situ hybridization. (7698775)
1994
33
Squamous cell carcinoma of the renal pelvis associated with cystinuria. (8067706)
1994
34
Late onset of cystinuria in a case of gyrate atrophy. (8295414)
1993
35
Successful treatment of cystinuria with captopril. (8488818)
1993
36
Cystinuria in a cat. (1995560)
1991
37
Sulfur amino acid metabolism in cystinuria: a biochemical and clinical study of patients. (2299801)
1990
38
Jeune syndrome associated with cystinuria: report of two sisters. (2260554)
1990
39
Cystinuria: failure of captopril to reduce cystine excretion. (2645847)
1989
40
Studies on the metabolism of D-penicillamine and its interaction with probenecid in cystinuria and rheumatoid arthritis. (6481720)
1984
41
Alternative treatment of cystinuria with alpha-merkaptopropionylglycine, Thiola. (6657666)
1983
42
Familial cystinuria in Ioannina District (Greece). Diagnosis and treatment. (6659226)
1983
43
Cystinuria: the disease and its models. (6783799)
1981
44
The use of D-penicillamine in cystinuria: efficacy and untoward reactions. (7342491)
1981
45
Subacute combined degeneration of the spinal cord with cystinuria. (1237110)
1975
46
Cystinuria: increased prevalence in patients with mental disease. (5456234)
1970
47
Cystathioninuria in a patient with cystinuria. (5788464)
1969
48
Cystinuria. (5738296)
1968
49
Treatment of cystinuria with alpha-mercaptopropionylglycine: a preliminary report with some notes on column chromatography of mercaptans. (5725122)
1968
50
Quantitative determination of thiols and disulphides in urine by means of Ellman's reagent and thiolated Sephadex and its application in cystinuria. (6051926)
1967

Variations for Cystinuria

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UniProtKB/Swiss-Prot genetic disease variations for Cystinuria:

62 (show all 83)
id Symbol AA change Variation ID 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
29SLC3A1p.Leu89ProVAR_072283
30SLC3A1p.Met123ArgVAR_072284
31SLC3A1p.Tyr124CysVAR_072285
32SLC3A1p.Ser130ProVAR_072286
33SLC3A1p.Asp137GlyVAR_072287
34SLC3A1p.Gly140ArgVAR_072288
35SLC3A1p.Leu149GlnVAR_072289
36SLC3A1p.Asp179TyrVAR_072290
37SLC3A1p.Thr189MetVAR_072292
38SLC3A1p.His348ProVAR_072294
39SLC3A1p.Arg365ProVAR_072295
40SLC3A1p.Asn410LysVAR_072296
41SLC3A1p.Pro441ArgVAR_072297
42SLC3A1p.Arg452GlnVAR_072299
43SLC3A1p.Ser455LeuVAR_072300
44SLC3A1p.Arg456CysVAR_072301
45SLC3A1p.Arg456HisVAR_072302
46SLC3A1p.Ser507LeuVAR_072303
47SLC3A1p.Ser547TrpVAR_072304
48SLC3A1p.Gly568SerVAR_072305
49SLC3A1p.Cys666TrpVAR_072306
50SLC7A9p.Gly105ArgVAR_010256rs121908480
51SLC7A9p.Val170MetVAR_010257
52SLC7A9p.Ala182ThrVAR_010258rs79389353
53SLC7A9p.Gly195ArgVAR_010259
54SLC7A9p.Gly259ArgVAR_010260
55SLC7A9p.Ile44ThrVAR_014363
56SLC7A9p.Pro261LeuVAR_014364
57SLC7A9p.Ala354ThrVAR_014365
58SLC7A9p.Val330MetVAR_015885
59SLC7A9p.Pro52LeuVAR_018998
60SLC7A9p.Gly63ArgVAR_018999
61SLC7A9p.Trp69LeuVAR_019000
62SLC7A9p.Ala70ValVAR_019001
63SLC7A9p.Thr123MetVAR_019002rs79987078
64SLC7A9p.Ala126ThrVAR_019003
65SLC7A9p.Ile187PheVAR_019005
66SLC7A9p.Trp230ArgVAR_019008
67SLC7A9p.Ile241ThrVAR_019009
68SLC7A9p.Arg333TrpVAR_019011
69SLC7A9p.Ser379ArgVAR_019012
70SLC7A9p.Ala382ThrVAR_019013
71SLC7A9p.Ala224ValVAR_022603
72SLC7A9p.Ala331ValVAR_022604
73SLC7A9p.Val62MetVAR_072310
74SLC7A9p.Gly105GluVAR_072312
75SLC7A9p.Val188MetVAR_072315
76SLC7A9p.Asn227AspVAR_072316
77SLC7A9p.Tyr232CysVAR_072317
78SLC7A9p.Arg250LysVAR_072318
79SLC7A9p.Leu283PheVAR_072319
80SLC7A9p.Ala316ValVAR_072321
81SLC7A9p.Gly319ArgVAR_072322
82SLC7A9p.Arg333GlnVAR_072324
83SLC7A9p.Pro482LeuVAR_072327

Clinvar genetic disease variations for Cystinuria:

6 (show all 24)
id Gene Variation Type Significance SNP ID Assembly Location
1SLC3A1NM_000341.3(SLC3A1): c.1400T> C (p.Met467Thr)single nucleotide variantPathogenicrs121912691GRCh37Chr 2, 44539792: 44539792
2SLC3A1NM_000341.3(SLC3A1): c.1400T> A (p.Met467Lys)single nucleotide variantPathogenicrs121912691GRCh37Chr 2, 44539792: 44539792
3NM_000341.3(SLC3A1): c.2033T> C (p.Leu678Pro)single nucleotide variantPathogenicrs121912693GRCh37Chr 2, 44547753: 44547753
4SLC3A1NM_000341.3(SLC3A1): c.542G> A (p.Arg181Gln)single nucleotide variantPathogenicrs121912694GRCh37Chr 2, 44507966: 44507966
5NM_000341.3(SLC3A1): c.1955C> G (p.Thr652Arg)single nucleotide variantPathogenicrs121912695GRCh37Chr 2, 44547675: 44547675
6NM_000341.3(SLC3A1): c.1843C> A (p.Pro615Thr)single nucleotide variantPathogenicrs121912696GRCh37Chr 2, 44547563: 44547563
7SLC3A1SLC3A1, EX5-9DUPduplicationPathogenic
8SLC3A1NM_000341.3(SLC3A1): c.1085G> A (p.Arg362His)single nucleotide variantPathogenicrs121912697GRCh37Chr 2, 44528215: 44528215
9SLC3A1NM_000341.3(SLC3A1): c.1597T> A (p.Tyr533Asn)single nucleotide variantPathogenicrs387907276GRCh37Chr 2, 44541070: 44541070
10SLC7A9NM_014270.4(SLC7A9): c.508G> A (p.Val170Met)single nucleotide variantPathogenicrs121908479GRCh37Chr 19, 33353463: 33353463
11SLC7A9NM_014270.4(SLC7A9): c.313G> A (p.Gly105Arg)single nucleotide variantPathogenicrs121908480GRCh37Chr 19, 33355167: 33355167
12SLC7A9NM_014270.4(SLC7A9): c.544G> A (p.Ala182Thr)single nucleotide variantPathogenicrs79389353GRCh37Chr 19, 33353427: 33353427
13SLC7A9NM_014270.4(SLC7A9): c.583G> A (p.Gly195Arg)single nucleotide variantPathogenicrs121908482GRCh37Chr 19, 33353388: 33353388
14SLC7A9NM_014270.4(SLC7A9): c.775G> A (p.Gly259Arg)single nucleotide variantPathogenicrs121908483GRCh37Chr 19, 33350845: 33350845
15SLC7A9SLC7A9, 2-BP DEL, 596TGdeletionPathogenic
16SLC7A9SLC7A9, 1-BP INS, 520TinsertionPathogenic
17SLC7A9NM_014270.4(SLC7A9): c.997C> T (p.Arg333Trp)single nucleotide variantPathogenicrs121908484GRCh37Chr 19, 33334838: 33334838
18SLC7A9NM_014270.4(SLC7A9): c.131T> C (p.Ile44Thr)single nucleotide variantPathogenicrs121908485GRCh37Chr 19, 33355639: 33355639
19SLC7A9NM_014270.4(SLC7A9): c.782C> T (p.Pro261Leu)single nucleotide variantPathogenicrs121908486GRCh37Chr 19, 33350838: 33350838
20SLC7A9SLC7A9, 1-BP INS, 799AinsertionPathogenic
21SLC7A9NM_014270.4(SLC7A9): c.695A> G (p.Tyr232Cys)single nucleotide variantPathogenicrs121908487GRCh37Chr 19, 33353033: 33353033
22SLC7A9SLC7A9, 789+2T-Csingle nucleotide variantPathogenic
23SLC7A9NM_014270.4(SLC7A9): c.368C> T (p.Thr123Met)single nucleotide variantPathogenicrs79987078GRCh37Chr 19, 33355112: 33355112
24SLC7A9SLC7A9, IVS5AS, C-A, -3single nucleotide variantPathogenic

Expression for genes affiliated with Cystinuria

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Search GEO for disease gene expression data for Cystinuria.

Pathways for genes affiliated with Cystinuria

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Pathways related to Cystinuria according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
glutamate biosynthesis II36
arginine biosynthesis IV36
10.0OAT, OTC
29.4SLC1A5, SLC3A2, SLC7A11
38.6SLC3A1, SLC3A2, SLC7A7, SLC7A8, SLC1A5, SLC7A9
4
Show member pathways
8.5SLC7A8, SLC7A11, SLC7A10, SLC3A2, SLC7A9, SLC7A7
5
Show member pathways
8.5SLC7A7, SLC3A2, SLC7A9, SLC7A8, SLC7A11, SLC7A10
68.5SLC7A7, SLC7A8, SLC7A11, SLC7A9, SLC3A2, SLC7A10
7
Show member pathways
7.2SLC7A8, SLC7A11, SLC1A4, SLC44A3, SLC7A7, SLC7A10

Compounds for genes affiliated with Cystinuria

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Sources:
43Novoseek, 24HMDB, 12DrugBank, 28IUPHAR, 59Tocris Bioscience
See all sources

Compounds related to Cystinuria according to GeneCards Suite gene sharing:

(show all 25)
idCompoundScoreTop Affiliating Genes
1delta(1)pyrroline-5-carboxylate4310.3OTC, OAT
2orotic acid43 24 1212.2OTC, OAT
3l-ornithine28 1211.2OTC, OAT
4carbamoyl phosphate4310.1OTC, OAT
5ecori4310.0OAT, OTC
6diethylmaleate4310.0SLC7A11, SLC3A2
7putrescine43 28 24 1213.0OTC, OAT
8L-Leucine24 1210.9SLC7A8, SLC3A2
9ornithine43 2410.9OTC, SLC3A1, SLC7A7, OAT
10l-arginine28 24 1211.8SLC3A2, SLC7A7
11L-Cysteine24 1210.8SLC7A8, SLC3A2
12l-alanine59 28 24 1212.7SLC1A4, SLC7A8
13l-glutamine28 24 1211.6SLC1A5, SLC7A8
14L-Cystine24 1210.6SLC7A11, SLC1A4, SLC3A1, SLC7A9
15arginine439.5OAT, SLC7A7, SLC3A2, SLC3A1, OTC
16glutamine439.4OAT, SLC1A4, SLC1A5, OTC
17phenylalanine439.4SLC7A8, SLC1A4, SLC3A2, SLC3A1
18gaba439.3OAT, SLC1A4, SLC3A1
19cystine439.1SLC7A8, SLC7A11, SLC3A2, SLC3A1, SLC7A9
20leucine439.1SLC7A8, SLC1A4, SLC3A2, SLC3A1, OTC
21alanine438.9SLC7A8, SLC1A4, SLC3A2, SLC3A1, SLC1A5
22glutamate438.6OAT, SLC7A11, SLC1A4, SLC3A2, SLC3A1, SLC1A5
23threonine438.4PPM1B, SLC7A8, SLC1A4, SLC3A2, OTC
24serine438.3PPM1B, SLC1A4, SLC7A10, SLC3A2, SLC3A1, SLC1A5
25sodium43 248.7OTC, SLC7A8, SLC7A11, SLC1A4, SLC7A7, SLC7A10

GO Terms for genes affiliated with Cystinuria

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Cellular components related to Cystinuria according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1brush border membraneGO:00315269.8SLC7A9, SLC3A1
2melanosomeGO:00424709.3SLC1A4, SLC3A2, SLC1A5
3membraneGO:00160208.9SLC1A5, SLC3A1, SLC7A10, PPM1B
4integral component of plasma membraneGO:00058878.4SLC7A9, SLC7A8, SLC1A4, SLC7A7, SLC7A10, SLC3A1
5plasma membraneGO:00058867.2SLC7A8, SLC7A11, SLC1A4, SLC44A3, SLC7A7, SLC7A10

Biological processes related to Cystinuria according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1L-cystine transportGO:00158119.8SLC7A9, SLC3A1, SLC1A4
2L-serine transportGO:00158259.7SLC1A4, SLC7A10
3transportGO:00068109.5SLC7A9, SLC7A7, SLC7A8
4glutamine transportGO:00068689.4SLC1A4, SLC1A5
5cellular amino acid metabolic processGO:00065209.4SLC7A8, SLC7A7, SLC3A1, SLC7A9
6neutral amino acid transportGO:00158049.3SLC7A8, SLC7A10, SLC1A5, SLC7A9
7leukocyte migrationGO:00509008.7SLC7A8, SLC7A11, SLC7A7, SLC7A10, SLC3A2, SLC7A9
8blood coagulationGO:00075968.5SLC7A8, SLC7A11, SLC7A7, SLC7A10, SLC3A2, SLC7A9
9ion transportGO:00068117.8SLC7A9, SLC7A8, SLC1A5, SLC3A1, SLC3A2, SLC7A10
10amino acid transportGO:00068657.8SLC7A8, SLC7A11, SLC1A4, SLC7A7, SLC7A10, SLC3A2
11transmembrane transportGO:00550857.4SLC7A8, SLC7A11, SLC1A4, SLC44A3, SLC7A7, SLC7A10

Molecular functions related to Cystinuria according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1cation bindingGO:004316910.0SLC3A1, SLC3A2
2L-cystine transmembrane transporter activityGO:00151849.8SLC1A4, SLC3A1, SLC7A9
3peptide antigen bindingGO:00426059.7SLC7A9, SLC7A8
4L-glutamine transmembrane transporter activityGO:00151869.6SLC1A4, SLC1A5
5L-serine transmembrane transporter activityGO:00151949.6SLC1A5, SLC7A10, SLC1A4
6sodium:dicarboxylate symporter activityGO:00171539.4SLC1A5, SLC1A4
7neutral amino acid transmembrane transporter activityGO:00151759.0SLC7A9, SLC1A5, SLC3A2, SLC7A10, SLC7A8
8amino acid transmembrane transporter activityGO:00151718.9SLC7A8, SLC7A14, SLC7A7, SLC3A1, SLC7A9

Products for genes affiliated with Cystinuria

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  • Antibodies
  • Proteins
  • Lysates
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  • Kits and Assays

Sources for Cystinuria

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet