CSNU
MCID: CYS013
MIFTS: 66

Cystinuria (CSNU)

Categories: Gastrointestinal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Cystinuria

MalaCards integrated aliases for Cystinuria:

Name: Cystinuria 57 12 73 20 43 58 72 36 29 13 54 6 44 15 39 70
Csnu 57 20 43 72
Cystinuria Type B 58 72 29
Cystinuria Type a 58 72 29
Cystinuria, Type Iii, Formerly; Csnu3, Formerly 57
Cystinuria, Type I, Formerly; Csnu1, Formerly 57
Cystinuria, Type Non-I, Formerly 57
Cystinuria, Type Iii, Formerly 57
Cystinuria, Type Ii, Formerly 57
Cystinuria-Lysinuria Syndrome 58
Cystinuria, Type I, Formerly 57
Cystinuria Type Non-I 72
Cystinuria-Lysinuria 20
Cystinuria, Type a/b 29
Cystinuria Type a/b 72
Cystinuria Type Iii 72
Cystinuria Type Ii 72
Cystinuria Type I 72
Cystinuria Type 1 70
Csnu1, Formerly 57
Csnu3, Formerly 57
Cystinuria 1 72
Csnu1 72
Csnu3 72

Characteristics:

Orphanet epidemiological data:

58
cystinuria
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;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
variable severity
onset in first or second decade
both recessive and dominant inheritance have been reported
some heterozygotes may have increased urinary excretion of cystine and may develop stones


HPO:

31

Classifications:

Orphanet: 58  
Rare renal diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:9266
OMIM® 57 220100
KEGG 36 H00901
MeSH 44 D003555
NCIt 50 C84664
SNOMED-CT 67 154738008
ICD10 32 E72.01
MESH via Orphanet 45 D003555
ICD10 via Orphanet 33 E72.0
UMLS via Orphanet 71 C0010691 C0268646 C1857388 more
UMLS 70 C0010691 C0268643

Summaries for Cystinuria

KEGG : 36 Cystinuria is a inherited disorder of re-absorptive transport of cystine and the dibasic amino acids ornithine, arginine and lysine in the proximal tubule and small intestine. Diagnostically, urinary levels of dibasic amino acids lysine, arginine, and ornithine, and most prominently, of cystine are constantly elevated. Plasma levels of these amino acids in general are at the lower end of the normal range. Patients with cystinuria often present with nephro- or urolithiasis at almost at any age with a clear preference in childhood due to elevated urinary cystine. Early diagnosis is important, as it allows prevention or diminution of kidney stones. Mutations in either interacting subunit SLC3A1 (rBAT) or SLC7A9 (b0,+AT) cause cystinuria. Cystinuria due to mutations in SLC3A1 is an autosomal recessive trait, whereas mutations in SLC7A9 can be seen as an autosomal dominant trait.

MalaCards based summary : Cystinuria, also known as csnu, is related to hypotonia-cystinuria syndrome and 2p21 microdeletion syndrome without cystinuria. An important gene associated with Cystinuria is SLC3A1 (Solute Carrier Family 3 Member 1), and among its related pathways/superpathways are Protein digestion and absorption and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. The drugs Penicillamine and Antidotes have been mentioned in the context of this disorder. Affiliated tissues include Kidney, small intestine and retina, and related phenotypes are abnormality of amino acid metabolism and hematuria

Disease Ontology : 12 An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder.

MedlinePlus Genetics : 43 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.As urine becomes more concentrated in the kidneys, the excess cystine forms crystals. Larger crystals become stones that may lodge in the kidneys or in the bladder. Sometimes cystine crystals combine with calcium molecules in the kidneys to form large 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.

GARD : 20 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.

OMIM® : 57 Cystinuria is 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 (summary by Barbosa et al., 2012). (220100) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 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.

Wikipedia : 73 Cystinuria is an inherited autosomal recessive disease characterized by high concentrations of the amino... more...

Related Diseases for Cystinuria

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

(show top 50) (show all 151)
# Related Disease Score Top Affiliating Genes
1 hypotonia-cystinuria syndrome 32.6 SLC7A9 SLC7A10 SLC3A1 SLC1A7 PREPL PPM1B
2 2p21 microdeletion syndrome without cystinuria 32.2 PREPL CAMKMT
3 urolithiasis 31.4 SLC7A9 SLC3A1 PREPL
4 aminoaciduria 30.9 SLC7A9 SLC3A1
5 myasthenic syndrome, congenital, 22 30.5 SLC3A1 PREPL CAMKMT
6 argininemia 29.9 SLC7A7 PRODH OAT
7 hartnup disorder 29.9 SLC7A8 SLC7A7 SLC3A2 SLC3A1 SLC1A7 SLC1A5
8 lysinuric protein intolerance 29.6 SLC7A8 SLC7A7 SLC7A11 SLC3A2 SLC3A1 SLC1A7
9 nephrolithiasis, calcium oxalate 11.1
10 hypotonia-cystinuria type 1 syndrome 10.9
11 nephrolithiasis 10.7
12 autosomal recessive disease 10.5
13 cystinosis 10.4
14 hypotonia 10.4
15 extrahepatic bile duct adenocarcinoma 10.3 SLC7A8 SLC1A7
16 b-lymphoblastic leukemia/lymphoma with hyperdiploidy 10.3 PBX1 BRCA1
17 urinary tract infection 10.3
18 waisman syndrome 10.2 SLC9A7 PRODH
19 nephrotic syndrome 10.2
20 hyperprolinemia, type i 10.2 PRODH OAT
21 purine-pyrimidine metabolic disorder 10.2 SLC7A9 PRODH
22 ureteral disease 10.2 SLC7A9 SLC3A2 SLC3A1 SLC1A7 PREPL
23 hyperuricemia 10.2
24 amino acid metabolic disorder 10.1 SLC7A9 SLC7A7 SLC3A1 SLC1A7 PRODH
25 proteinuria, chronic benign 10.1
26 inherited metabolic disorder 10.1
27 kidney disease 10.1
28 fanconi syndrome 10.0
29 acute cystitis 10.0
30 myopathy 10.0
31 homocystinuria 10.0
32 growth hormone deficiency 10.0
33 allan-herndon-dudley syndrome 10.0 SLC7A8 SLC1A7
34 diaminopentanuria 10.0
35 gyrate atrophy of choroid and retina 10.0
36 ataxia and polyneuropathy, adult-onset 10.0
37 pyelonephritis 10.0
38 acute kidney failure 10.0
39 paraplegia 10.0
40 dwarfism 10.0
41 alkaptonuria 9.9
42 short-rib thoracic dysplasia 1 with or without polydactyly 9.9
43 cystathioninuria 9.9
44 histidinemia 9.9
45 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 9.9
46 yemenite deaf-blind hypopigmentation syndrome 9.9
47 autoimmune polyendocrine syndrome type 1 9.9
48 exanthem 9.9
49 polycystic kidney disease 9.9
50 rickets 9.9

Graphical network of the top 20 diseases related to Cystinuria:



Diseases related to Cystinuria

Symptoms & Phenotypes for Cystinuria

Human phenotypes related to Cystinuria:

58 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of amino acid metabolism 58 31 hallmark (90%) Very frequent (99-80%) HP:0004337
2 hematuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0000790
3 nephrolithiasis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000787
4 renal insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0000083
5 hyperuricemia 58 31 frequent (33%) Frequent (79-30%) HP:0002149
6 recurrent urinary tract infections 31 HP:0000010
7 abnormality of the nervous system 31 HP:0000707
8 cystinuria 31 HP:0003131
9 argininuria 31 HP:0003268
10 hyperlysinuria 31 HP:0003297
11 ornithinuria 31 HP:0003532

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary Kidneys:
nephrolithiasis
renal failure

Genitourinary Bladder:
nephrolithiasis

Laboratory Abnormalities:
increased urinary excretion of cystine
increase urinary excretion of lysine, arginine, and ornithine

Genitourinary Ureters:
nephrolithiasis

Genitourinary:
urinary tract infections

Clinical features from OMIM®:

220100 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Cystinuria according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-2 9.93 BRCA1
2 Decreased viability GR00221-A-3 9.93 BRCA1
3 Decreased viability GR00249-S 9.93 PBX1 PPM1B PRODH SLC7A7
4 Decreased viability GR00301-A 9.93 BRCA1
5 Decreased viability GR00381-A-1 9.93 OAT PRODH SLC7A7
6 Decreased viability GR00381-A-2 9.93 SLC7A7
7 Decreased viability GR00386-A-1 9.93 SLC1A5 SLC7A10 SLC7A11 SLC9A7
8 Decreased viability GR00402-S-2 9.93 PREPL SLC1A4 SLC7A7 SLC9A7
9 Resistant to vaccinia virus (VACV-A4L) infection GR00351-A-1 9.17 BRCA1 OAT SLC1A4 SLC3A1 SLC7A11 SLC7A9

MGI Mouse Phenotypes related to Cystinuria:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.07 BRCA1 CAMKMT CENPF OAT PBX1 PREPL
2 homeostasis/metabolism MP:0005376 9.97 BRCA1 CAMKMT OAT PBX1 PRODH SLC1A4
3 muscle MP:0005369 9.56 BRCA1 CAMKMT CENPF PBX1 PREPL SLC3A1
4 renal/urinary system MP:0005367 9.17 BRCA1 CAMKMT OAT PBX1 SLC3A1 SLC7A7

Drugs & Therapeutics for Cystinuria

Drugs for Cystinuria (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 40)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Penicillamine Approved Phase 4 52-67-5 5852 4727
2 Antidotes Phase 4
3 Antirheumatic Agents Phase 4
4 Chelating Agents Phase 4
5
Sodium citrate Approved, Investigational Phase 2, Phase 3 68-04-2
6
Potassium citrate Approved, Investigational, Vet_approved Phase 2, Phase 3 866-84-2
7
Citric acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 77-92-9 311
8 Respiratory System Agents Phase 2, Phase 3
9 Citrate Phase 2, Phase 3
10 diuretics Phase 2, Phase 3
11 Expectorants Phase 2, Phase 3
12
Sulfamethoxazole Approved Phase 2 723-46-6 5329
13
Cysteine Approved, Nutraceutical Phase 2 52-90-4 5862
14
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
15
Bucillamine Investigational Phase 2 65002-17-7
16 Anti-Inflammatory Agents Phase 2
17 Analgesics Phase 2
18 Anti-Inflammatory Agents, Non-Steroidal Phase 2
19 Analgesics, Non-Narcotic Phase 2
20 Anti-Infective Agents Phase 2
21 Protective Agents Phase 2
22 Antioxidants Phase 2
23 Micronutrients Phase 2
24 Trace Elements Phase 2
25 Nutrients Phase 2
26 Vitamin B9 Phase 2
27 Vitamin B Complex Phase 2
28 Folate Phase 2
29 Alpha-lipoic Acid Phase 2
30 Thioctic Acid Phase 2
31 Vitamins Phase 2
32 2-(3-(4-ethoxybenzyl)-4-chlorophenyl)-6-hydroxymethyltetrahydro-2H-pyran-3,4,... Phase 2
33 Sodium-Glucose Transporter 2 Inhibitors Phase 2
34 Hypoglycemic Agents Phase 2
35
Tolvaptan Approved 150683-30-0 216237
36 Anesthetics
37 Hormones
38 Vasopressins
39 Arginine Vasopressin
40 Noni

Interventional clinical trials:

(show all 19)
# Name Status NCT ID Phase Drugs
1 Effect of Increasing Doses of Cystine Binding Thiol Drugs on Cystine Capacity in Patients With Cystinuria Completed NCT02125721 Phase 4 CBTD 0-3 gm
2 Open Label, Multicentre Study, Evaluating the Safety, Tolerability, Efficacy, Compliance and Acceptability of Alkalising Treatments at Long-term in Patients With Cystinuria Recruiting NCT04137978 Phase 2, Phase 3 ADV7103;Standard of Care
3 A Multicentre, Randomized, Controlled Versus Placebo, Double-blinded, 4 Parallel Arms, Dose-ranging Main Study, to Evaluate the Efficacy, Safety and Tolerability and Acceptability of Repeated Doses of ADV7103, After 7 Days of Treatment, in Patients With Cystinuria, and an Efficacy and Safety Exploratory Study in the Youngest Children. Recruiting NCT04147871 Phase 2, Phase 3 ADV7103;Placebo
4 Phase 2 Multi-Center, Dose Escalation Trial To Assess The Safety And Effectiveness Of Bucillamine On Urinary Cystine Excretion And Cystine Capacity In Patients With Cystinuria Unknown status NCT02942420 Phase 2 Bucillamine
5 Sulfamethoxazole for the Treatment of Primary PREPL Deficiency (In Dutch: Sulfamethoxazole Ter Behandeling Van Primaire PREPL deficiëntie) Unknown status NCT02640443 Phase 2 Sulfamethoxazole
6 Effect of Increasing Doses of Tiopronin on Cystine Capacity in Patients With Cystinuria Completed NCT03663855 Phase 2 7 Days Tiopronin;500 mg Tiopronin;1 grams per day of Tiopronin;2 grams per day of Tiopronin
7 Cystone for Treatment of Nephrolithiasis Completed NCT00381849 Phase 1, Phase 2 Cystone;Sugar Pill (Placebo)
8 The Effect of Lipoic Acid Natural Supplement on Cystine Stone Formation Recruiting NCT02910531 Phase 2 Placebo
9 The Effect of Sodium-glucose Cotransporter (SGLT) 2 Inhibitors on Cystine Stone Formation: A Preliminary Study Not yet recruiting NCT04818034 Phase 2 Dapagliflozin
10 Randomized, Controlled and Opened Trial on the Impact of the Use of a pH-Meter on the Domiciliary Control of the Urinary pH as Adjuvant to the Treatment of Cystinuric Patients Unknown status NCT03539926
11 PREPL in Health and Disease Unknown status NCT02263781
12 Cystine Capacity Clinical Study (CysCap) Completed NCT02120105
13 Use of Tolvaptan, a Vasopressin Antagonist, to Increase Urine Dilution and Reduce Cystine Urolithiasis Among Patients With Homozygous Cystinuria: a Pilot Investigation Completed NCT02538016 Tolvaptan
14 Prospective Research Rare Kidney Stones (ProRKS) Recruiting NCT02780297
15 Effect of Urine Alkalinazation on Urinary Inflammatory Markers Analyzed Using Mass Spectrometry in Patients With Cystinuria Recruiting NCT03836144
16 Rare Kidney Stone Consortium Registry for Hereditary Kidney Stone Diseases Recruiting NCT00588562
17 Randall's Plaques: Pathogenesis and Relationship to Nephrolithiasis Recruiting NCT00169806
18 Assessment of Health-related Quality of Life in Rare Kidney Stone Formers in the Rare Kidney Stone Consortium Recruiting NCT02124395
19 Rare Kidney Stone Consortium Biobank, Rare Diseases Clinical Research Network Recruiting NCT02026388

Search NIH Clinical Center for Cystinuria

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Iodoquinol
Penicillamine

Cochrane evidence based reviews: cystinuria

Genetic Tests for Cystinuria

Genetic tests related to Cystinuria:

# Genetic test Affiliating Genes
1 Cystinuria 29 SLC3A1 SLC7A9
2 Cystinuria Type a 29
3 Cystinuria Type B 29
4 Cystinuria, Type a/b 29

Anatomical Context for Cystinuria

MalaCards organs/tissues related to Cystinuria:

40
Kidney, Small Intestine, Retina, Colon, Bone, Skin, Breast
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Cystinuria:
# Tissue Anatomical CompartmentCell Relevance
1 Kidney Proximal Tubule Proximal Tubule Cells Affected by disease, potential therapeutic candidate

Publications for Cystinuria

Articles related to Cystinuria:

(show top 50) (show all 1309)
# Title Authors PMID Year
1
Distinct classes of trafficking rBAT mutants cause the type I cystinuria phenotype. 61 54 57 6
18332091 2008
2
Isolated cystinuria (OMIM 238200) is not a separate entity but is caused by a mutation in the cystinuria gene SLC7A9. 61 54 6 57
17539912 2007
3
New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype. 61 54 6 57
15635077 2005
4
Significant contribution of genomic rearrangements in SLC3A1 and SLC7A9 to the etiology of cystinuria. 54 57 6 61
14531788 2003
5
Mutation analysis of SLC7A9 in cystinuria patients in Sweden. 54 61 57 6
12820697 2003
6
SLC7A9 mutations in all three cystinuria subtypes. 54 57 6 61
12371955 2002
7
Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification. 57 6 61 54
12239244 2002
8
Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients. 61 6 54 57
11748844 2001
9
Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria. 57 54 6 61
11157794 2001
10
Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT. 6 54 57 61
10471498 1999
11
Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity. 57 6 54 61
7573036 1995
12
Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine. 6 57 54 61
8054986 1994
13
Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients. 61 6 57
21255007 2012
14
[An isolated defect of the tubular cystine reabsorption in a family with idiopathic hypoparathyroidism]. 6 57
6031738 1967
15
Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients. 54 6 61
19782624 2010
16
Type I cystinuria and its genetic basis in a population of Turkish school children. 61 6 54
17880288 2007
17
Identification of novel cystinuria mutations in pediatric patients. 61 6 54
18947684 2006
18
Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients. 6 61 54
16138908 2005
19
Identification of novel SLC3A1 gene mutations in Spanish cystinuria families and association with clinical phenotypes. 6 54 61
15691362 2005
20
Functional analysis of a new splice site mutation, c.605-3C>A, in the cystinuria gene SLC7A9 leading to exon skipping. 6 61 54
15670723 2005
21
Identification of novel cystinuria mutations and polymorphisms in SLC3A1 and SLC7A9 genes: absence of SLC7A10 gene mutations in cystinuric patients. 61 6 54
16225397 2005
22
The population-specific distribution and frequencies of genomic variants in the SLC3A1 and SLC7A9 genes and their application in molecular genetic testing of cystinuria. 61 54 6
14991253 2004
23
Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes. 6 54 61
12234283 2002
24
The light subunit of system b(o,+) is fully functional in the absence of the heavy subunit. 54 61 6
12234930 2002
25
Cystinuria type I: identification of eight new mutations in SLC3A1. 6 61 54
11260385 2001
26
Dating the origin of the V170M mutation causing non-type I cystinuria in Libyan Jews by linkage disequilibrium and physical mapping of the SLC7A9 gene. 54 61 6
11013083 2000
27
Linkage of type II and type III cystinuria to 19q13.1: codominant inheritance of two cystinuric alleles at 19q13.1 produces an extreme stone-forming phenotype. 57 54 61
10449648 1999
28
Mutations in the genomic deoxyribonucleic acid for SLC3A1 in patients with cystinuria. 61 54 6
9768685 1998
29
Molecular genetics of cystinuria: mutation analysis of SLC3A1 and evidence for another gene in type I (silent) phenotype. 54 6 61
9648062 1998
30
Genomic organization of a human cystine transporter gene (SLC3A1) and identification of novel mutations causing cystinuria. 6 61 54
9186880 1997
31
An intracellular trafficking defect in type I cystinuria rBAT mutants M467T and M467K. 6 61 54
9083097 1997
32
Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1. 61 54 57
9042921 1997
33
Molecular analysis of cystinuria in Libyan Jews: exclusion of the SLC3A1 gene and mapping of a new locus on 19q. 57 54 61
9042922 1997
34
Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism. 6 61 54
8792820 1996
35
Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria. 57 61 54
7568194 1995
36
Mutations in the SLC3A1 transporter gene in cystinuria. 6 61 54
7539209 1995
37
Clinical, Biochemical, and Genetic Findings of Cystinuria in Chinese Children. 61 6
30146843 2018
38
Spectrum of mutations in cystinuria patients presenting with prenatal hyperechoic colon. 61 6
28646536 2017
39
Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine. 61 6
28812535 2017
40
Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants. 6 61
28717662 2017
41
Delineation of cystinuria in Saudi Arabia: A case series. 6 61
28166740 2017
42
The role of N-glycans and the C-terminal loop of the subunit rBAT in the biogenesis of the cystinuria-associated transporter. 61 6
26537754 2016
43
Mutation analysis of SLC3A1 and SLC7A9 genes in patients with cystinuria. 6 61
26123750 2015
44
The genetic diversity of cystinuria in a UK population of patients. 6 61
25109415 2015
45
Clinical and genetic analysis of patients with cystinuria in the United Kingdom. 61 6
25964309 2015
46
Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis. 61 6
25296721 2015
47
PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome. 61 6
24610330 2014
48
Molecular characterization of cystinuria in south-eastern European countries. 6 61
23532419 2013
49
Two novel deletions in hypotonia-cystinuria syndrome. 6 61
22796000 2012
50
Carrier subunit of plasma membrane transporter is required for oxidative folding of its helper subunit. 61 6
22493502 2012

Variations for Cystinuria

ClinVar genetic disease variations for Cystinuria:

6 (show top 50) (show all 223)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC3A1 NM_000341.4(SLC3A1):c.1597T>A (p.Tyr533Asn) SNV Pathogenic 37080 rs387907276 GRCh37: 2:44541070-44541070
GRCh38: 2:44313931-44313931
2 SLC7A9 NM_014270.5(SLC7A9):c.671C>T (p.Ala224Val) SNV Pathogenic 631809 rs140873167 GRCh37: 19:33353057-33353057
GRCh38: 19:32862151-32862151
3 SLC3A1 NC_000002.11:g.(?_44527090)_(44541110_?)dup Duplication Pathogenic 648524 GRCh37: 2:44527090-44541110
GRCh38: 2:44299951-44313971
4 SLC3A1 and overlap with 1 gene(s) NC_000002.12:g.(?_44299971)_(44318104_?)del Deletion Pathogenic 832151 GRCh37: 2:44527110-44545243
GRCh38:
5 SLC3A1 NC_000002.12:g.(?_44280696)_(44286177_?)del Deletion Pathogenic 832572 GRCh37: 2:44507835-44513316
GRCh38:
6 SLC3A1 SLC3A1, EX5-9DUP Duplication Pathogenic 18121 GRCh37:
GRCh38:
7 PREPL , SLC3A1 NM_000341.4(SLC3A1):c.1955C>G (p.Thr652Arg) SNV Pathogenic 18119 rs121912695 GRCh37: 2:44547675-44547675
GRCh38: 2:44320536-44320536
8 SLC3A1 NM_000341.4(SLC3A1):c.542G>A (p.Arg181Gln) SNV Pathogenic 18118 rs121912694 GRCh37: 2:44507966-44507966
GRCh38: 2:44280827-44280827
9 PREPL , SLC3A1 NM_000341.4(SLC3A1):c.2033T>C (p.Leu678Pro) SNV Pathogenic 18117 rs121912693 GRCh37: 2:44547753-44547753
GRCh38: 2:44320614-44320614
10 SLC7A9 SLC7A9, 789+2T-C SNV Pathogenic 5792 GRCh37:
GRCh38:
11 SLC7A9 SLC7A9, 1-BP INS, 799A Insertion Pathogenic 5790 GRCh37:
GRCh38:
12 SLC7A9 NM_014270.5(SLC7A9):c.782C>T (p.Pro261Leu) SNV Pathogenic 5789 rs121908486 GRCh37: 19:33350838-33350838
GRCh38: 19:32859932-32859932
13 SLC7A9 NM_014270.5(SLC7A9):c.131T>C (p.Ile44Thr) SNV Pathogenic 5788 rs121908485 GRCh37: 19:33355639-33355639
GRCh38: 19:32864733-32864733
14 SLC7A9 SLC7A9, 1-BP INS, 520T Insertion Pathogenic 5786 GRCh37:
GRCh38:
15 SLC7A9 SLC7A9, 2-BP DEL, 596TG Deletion Pathogenic 5785 GRCh37:
GRCh38:
16 SLC7A9 NM_014270.5(SLC7A9):c.775G>A (p.Gly259Arg) SNV Pathogenic 5784 rs121908483 GRCh37: 19:33350845-33350845
GRCh38: 19:32859939-32859939
17 SLC7A9 NM_014270.5(SLC7A9):c.583G>A (p.Gly195Arg) SNV Pathogenic 5783 rs121908482 GRCh37: 19:33353388-33353388
GRCh38: 19:32862482-32862482
18 SLC7A9 NM_014270.5(SLC7A9):c.508G>A (p.Val170Met) SNV Pathogenic 5780 rs121908479 GRCh37: 19:33353463-33353463
GRCh38: 19:32862557-32862557
19 PREPL , SLC3A1 NM_000341.4(SLC3A1):c.1843C>A (p.Pro615Thr) SNV Pathogenic 18120 rs121912696 GRCh37: 2:44547563-44547563
GRCh38: 2:44320424-44320424
20 SLC3A1 NM_000341.4(SLC3A1):c.1354C>T (p.Arg452Trp) SNV Pathogenic 336205 rs201502095 GRCh37: 2:44539746-44539746
GRCh38: 2:44312607-44312607
21 SLC3A1 NM_000341.4(SLC3A1):c.782_804del (p.Asn261fs) Deletion Pathogenic 945849 GRCh37: 2:44513184-44513206
GRCh38: 2:44286045-44286067
22 PREPL , SLC3A1 NM_000341.4(SLC3A1):c.1749_1750del (p.Glu585fs) Deletion Pathogenic 953279 GRCh37: 2:44547469-44547470
GRCh38: 2:44320330-44320331
23 SLC3A1 NM_000341.4(SLC3A1):c.1069_1084dup (p.Arg362fs) Duplication Pathogenic 431486 rs1553344107 GRCh37: 2:44528198-44528199
GRCh38: 2:44301059-44301060
24 PREPL , SLC3A1 NM_000341.4(SLC3A1):c.2020dup (p.Tyr674fs) Duplication Pathogenic 642723 rs777149216 GRCh37: 2:44547739-44547740
GRCh38: 2:44320600-44320601
25 SLC3A1 NM_000341.4(SLC3A1):c.1601_1602AC[1] (p.Thr535fs) Microsatellite Pathogenic 858369 GRCh37: 2:44541073-44541074
GRCh38: 2:44313934-44313935
26 SLC7A9 NM_014270.5(SLC7A9):c.614dup (p.Asn206fs) Duplication Pathogenic 288197 rs745319034 GRCh37: 19:33353113-33353114
GRCh38: 19:32862207-32862208
27 SLC3A1 NM_000341.4(SLC3A1):c.1500+1G>T SNV Pathogenic 284275 rs886042834 GRCh37: 2:44539893-44539893
GRCh38: 2:44312754-44312754
28 SLC7A9 NM_001243036.1(SLC7A9):c.1225-4678_1324del Deletion Pathogenic 242913 GRCh37: 19:33324130-33328907
GRCh38: 19:32833224-32838001
29 SLC3A1 NM_000341.4(SLC3A1):c.1011+1G>A SNV Pathogenic 1034172 GRCh37: 2:44527230-44527230
GRCh38: 2:44300091-44300091
30 SLC7A9 NM_014270.5(SLC7A9):c.1397C>A (p.Ser466Ter) SNV Pathogenic 974507 GRCh37: 19:33324057-33324057
GRCh38: 19:32833151-32833151
31 overlap with 2 genes GRCh37/hg19 2p21(chr2:44494834-44571747) copy number loss Pathogenic 915960 GRCh37: 2:44494834-44571747
GRCh38:
32 SLC3A1 NM_000341.4(SLC3A1):c.163del (p.Gln55fs) Deletion Pathogenic 502014 rs779932118 GRCh37: 2:44502835-44502835
GRCh38: 2:44275696-44275696
33 SLC3A1 NM_000341.4(SLC3A1):c.592del (p.Ala198fs) Deletion Pathogenic 548674 rs778000327 GRCh37: 2:44508016-44508016
GRCh38: 2:44280877-44280877
34 BRCA1 NM_007294.4(BRCA1):c.34C>T (p.Gln12Ter) SNV Pathogenic 54902 rs80357134 GRCh37: 17:41276080-41276080
GRCh38: 17:43124063-43124063
35 SLC3A1 NM_000341.4(SLC3A1):c.342_346dup (p.Asp116delinsAlaTer) Duplication Pathogenic 1064450 GRCh37: 2:44503014-44503015
GRCh38: 2:44275875-44275876
36 SLC3A1 NM_000341.4(SLC3A1):c.916A>T (p.Lys306Ter) SNV Pathogenic 1064456 GRCh37: 2:44527134-44527134
GRCh38: 2:44299995-44299995
37 PREPL , SLC3A1 NM_000341.4(SLC3A1):c.1370dup (p.Leu457fs) Duplication Pathogenic 1064457 GRCh37: 2:44539759-44539760
GRCh38: 2:44312620-44312621
38 SLC7A9 NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg) SNV Pathogenic 5781 rs121908480 GRCh37: 19:33355167-33355167
GRCh38: 19:32864261-32864261
39 SLC3A1 NM_000341.4(SLC3A1):c.808C>T (p.Arg270Ter) SNV Pathogenic 336195 rs200483989 GRCh37: 2:44513213-44513213
GRCh38: 2:44286074-44286074
40 SLC7A9 NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) SNV Pathogenic/Likely pathogenic 5782 rs79389353 GRCh37: 19:33353427-33353427
GRCh38: 19:32862521-32862521
41 SLC7A9 NM_014270.5(SLC7A9):c.368C>T (p.Thr123Met) SNV Pathogenic/Likely pathogenic 5793 rs79987078 GRCh37: 19:33355112-33355112
GRCh38: 19:32864206-32864206
42 SLC3A1 NM_000341.4(SLC3A1):c.647C>T (p.Thr216Met) SNV Pathogenic/Likely pathogenic 943110 GRCh37: 2:44508562-44508562
GRCh38: 2:44281423-44281423
43 SLC3A1 NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) SNV Pathogenic/Likely pathogenic 18115 rs121912691 GRCh37: 2:44539792-44539792
GRCh38: 2:44312653-44312653
44 PREPL , SLC3A1 NM_000341.4(SLC3A1):c.1750del (p.Arg584fs) Deletion Likely pathogenic 375410 rs775827496 GRCh37: 2:44547469-44547469
GRCh38: 2:44320330-44320330
45 SLC7A9 NM_014270.5(SLC7A9):c.450_452del (p.Val151del) Deletion Likely pathogenic 932013 GRCh37: 19:33355028-33355030
GRCh38: 19:32864122-32864124
46 SLC7A9 NM_014270.5(SLC7A9):c.997C>T (p.Arg333Trp) SNV Likely pathogenic 5787 rs121908484 GRCh37: 19:33334838-33334838
GRCh38: 19:32843932-32843932
47 CENPF NM_016343.4(CENPF):c.997_1012del (p.Glu333fs) Deletion Likely pathogenic 978423 GRCh37: 1:214795552-214795567
GRCh38: 1:214622209-214622224
48 overlap with 2 genes NC_000002.12:g.(?_44280696)_(44346410_?)del Deletion Likely pathogenic 526035 GRCh37: 2:44507835-44573549
GRCh38: 2:44280696-44346410
49 overlap with 2 genes Deletion Likely pathogenic 560031 GRCh37: 19:33321553-33390958
GRCh38: 19:32830647-32900052
50 SLC3A1 NM_000341.4(SLC3A1):c.1230C>A (p.Asn410Lys) SNV Likely pathogenic 978421 GRCh37: 2:44531375-44531375
GRCh38: 2:44304236-44304236

UniProtKB/Swiss-Prot genetic disease variations for Cystinuria:

72 (show top 50) (show all 83)
# Symbol AA change Variation ID SNP ID
1 SLC3A1 p.Pro128Gln VAR_011420 rs576810133
2 SLC3A1 p.Arg181Gln VAR_011421 rs121912694
3 SLC3A1 p.Glu268Lys VAR_011422 rs757239030
4 SLC3A1 p.Thr341Ala VAR_011423 rs200287661
5 SLC3A1 p.Arg365Trp VAR_011424 rs765828196
6 SLC3A1 p.Arg452Trp VAR_011425 rs201502095
7 SLC3A1 p.Tyr461His VAR_011426 rs144162964
8 SLC3A1 p.Met467Thr VAR_011427 rs121912691
9 SLC3A1 p.Met467Lys VAR_011428 rs121912691
10 SLC3A1 p.Tyr582His VAR_011429 rs776729515
11 SLC3A1 p.Pro615Thr VAR_011430 rs121912696
12 SLC3A1 p.Phe648Ser VAR_011432 rs127928921
13 SLC3A1 p.Thr652Arg VAR_011433 rs121912695
14 SLC3A1 p.Leu678Pro VAR_011434 rs121912693
15 SLC3A1 p.Thr216Met VAR_022600 rs369641941
16 SLC3A1 p.Arg362Cys VAR_022601 rs375399468
17 SLC3A1 p.Pro508Ala VAR_022602 rs103251339
18 SLC3A1 p.Tyr151Cys VAR_038200 rs778354350
19 SLC3A1 p.Asn253Lys VAR_038201
20 SLC3A1 p.Arg362His VAR_038202 rs121912697
21 SLC3A1 p.Gly398Arg VAR_038203 rs129780249
22 SLC3A1 p.Gly481Val VAR_038204
23 SLC3A1 p.Glu482Lys VAR_038205
24 SLC3A1 p.Gln510Arg VAR_038206 rs778925791
25 SLC3A1 p.Arg584Thr VAR_038207 rs759696513
26 SLC3A1 p.Phe599Ser VAR_038208 rs146963107
27 SLC3A1 p.Gly600Glu VAR_038209 rs141944551
28 SLC3A1 p.Pro122Ser VAR_064040
29 SLC3A1 p.Leu89Pro VAR_072283 rs145387130
30 SLC3A1 p.Met123Arg VAR_072284 rs126913935
31 SLC3A1 p.Tyr124Cys VAR_072285 rs766947722
32 SLC3A1 p.Ser130Pro VAR_072286
33 SLC3A1 p.Asp137Gly VAR_072287
34 SLC3A1 p.Gly140Arg VAR_072288 rs768848958
35 SLC3A1 p.Leu149Gln VAR_072289
36 SLC3A1 p.Asp179Tyr VAR_072290 rs747660493
37 SLC3A1 p.Thr189Met VAR_072292 rs140317484
38 SLC3A1 p.His348Pro VAR_072294 rs756887216
39 SLC3A1 p.Arg365Pro VAR_072295 rs567478582
40 SLC3A1 p.Asn410Lys VAR_072296
41 SLC3A1 p.Pro441Arg VAR_072297
42 SLC3A1 p.Arg452Gln VAR_072299 rs750912461
43 SLC3A1 p.Ser455Leu VAR_072300 rs949704245
44 SLC3A1 p.Arg456Cys VAR_072301 rs139251285
45 SLC3A1 p.Arg456His VAR_072302 rs373852467
46 SLC3A1 p.Ser507Leu VAR_072303
47 SLC3A1 p.Ser547Trp VAR_072304 rs368796166
48 SLC3A1 p.Gly568Ser VAR_072305 rs376639206
49 SLC3A1 p.Cys666Trp VAR_072306
50 SLC7A9 p.Gly105Arg VAR_010256 rs121908480

Copy number variations for Cystinuria from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 127881 19 38013258 38052523 Rearrangement SLC7A9 Cystinuria
2 145637 2 41600000 47600000 Microdeletion CAMKMT Cystinuria
3 145638 2 41600000 47600000 Microdeletion PPM1B Cystinuria
4 145995 2 44356100 44401466 Genomic rearrangement SLC3A1 Cystinuria

Expression for Cystinuria

Search GEO for disease gene expression data for Cystinuria.

Pathways for Cystinuria

Pathways related to Cystinuria according to KEGG:

36
# Name Kegg Source Accession
1 Protein digestion and absorption hsa04974

Pathways related to Cystinuria according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.02 SLC9A7 SLC7A9 SLC7A8 SLC7A7 SLC7A11 SLC7A10
2
Show member pathways
12.92 SLC7A9 SLC7A8 SLC7A7 SLC7A11 SLC7A10 SLC3A2
3
Show member pathways
12.53 SLC7A9 SLC7A8 SLC7A7 SLC3A2 SLC3A1 SLC1A5
4
Show member pathways
11.98 SLC7A9 SLC7A8 SLC7A7 SLC7A11 SLC7A10 SLC3A2
5 10.85 SLC7A9 SLC7A8 SLC7A7 SLC7A11 SLC7A10 SLC3A2
6
Show member pathways
10.79 SLC7A9 SLC7A8 SLC7A7 SLC7A11 SLC7A10 SLC3A2

GO Terms for Cystinuria

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

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10.18 SLC9A7 SLC7A9 SLC7A8 SLC7A7 SLC7A11 SLC7A10
2 plasma membrane GO:0005886 9.97 SLC9A7 SLC7A9 SLC7A8 SLC7A7 SLC7A11 SLC7A10
3 integral component of plasma membrane GO:0005887 9.87 SLC7A9 SLC7A8 SLC7A7 SLC7A10 SLC3A1 SLC1A5
4 melanosome GO:0042470 9.54 SLC3A2 SLC1A5 SLC1A4
5 ciliary transition fiber GO:0097539 9.26 CEP89 CENPF
6 brush border membrane GO:0031526 9.13 SLC7A9 SLC7A11 SLC3A1
7 basal plasma membrane GO:0009925 8.8 SLC7A8 SLC3A2 SLC1A5

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 10.03 SLC9A7 SLC7A9 SLC7A8 SLC7A7 SLC7A11 SLC7A10
2 leukocyte migration GO:0050900 9.88 SLC7A9 SLC7A8 SLC7A7 SLC7A11 SLC7A10 SLC3A2
3 L-amino acid transport GO:0015807 9.65 SLC7A8 SLC7A7 SLC7A10
4 L-serine transport GO:0015825 9.63 SLC7A10 SLC1A5 SLC1A4
5 ventricular system development GO:0021591 9.58 SLC7A11 CENPF
6 glutamine transport GO:0006868 9.57 SLC1A5 SLC1A4
7 basic amino acid transmembrane transport GO:1990822 9.56 SLC7A7 SLC3A1
8 L-alpha-amino acid transmembrane transport GO:1902475 9.56 SLC7A9 SLC7A7 SLC7A10 SLC3A2
9 proline transmembrane transport GO:0035524 9.55 SLC7A8 SLC1A4
10 L-aspartate import across plasma membrane GO:0140009 9.54 SLC1A5 SLC1A4
11 L-cystine transport GO:0015811 9.54 SLC7A9 SLC3A1 SLC1A4
12 tryptophan transport GO:0015827 9.52 SLC7A8 SLC3A2
13 L-leucine import across plasma membrane GO:1903801 9.51 SLC7A8 SLC3A2
14 L-alanine import across plasma membrane GO:1904273 9.5 SLC7A8 SLC3A2 SLC1A4
15 leucine import across plasma membrane GO:0098713 9.49 SLC7A8 SLC3A2
16 neutral amino acid transport GO:0015804 9.46 SLC7A9 SLC7A8 SLC7A10 SLC1A5
17 amino acid transmembrane transport GO:0003333 9.43 SLC7A9 SLC7A8 SLC7A7 SLC7A11 SLC7A10 SLC3A1
18 amino acid transport GO:0006865 9.28 SLC7A9 SLC7A8 SLC7A7 SLC7A11 SLC7A10 SLC3A2

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transporter activity GO:0022857 9.8 SLC7A9 SLC7A8 SLC7A7 SLC7A11 SLC7A10
2 symporter activity GO:0015293 9.69 SLC1A7 SLC1A5 SLC1A4
3 amino acid transmembrane transporter activity GO:0015171 9.55 SLC7A9 SLC7A8 SLC3A1 SLC1A5 SLC1A4
4 L-alanine transmembrane transporter activity GO:0015180 9.54 SLC7A8 SLC3A2 SLC1A4
5 L-serine transmembrane transporter activity GO:0015194 9.5 SLC7A10 SLC1A5 SLC1A4
6 basic amino acid transmembrane transporter activity GO:0015174 9.49 SLC7A7 SLC3A1
7 L-aspartate transmembrane transporter activity GO:0015183 9.48 SLC1A5 SLC1A4
8 L-glutamine transmembrane transporter activity GO:0015186 9.46 SLC1A5 SLC1A4
9 L-leucine transmembrane transporter activity GO:0015190 9.43 SLC7A8 SLC3A2
10 L-cystine transmembrane transporter activity GO:0015184 9.43 SLC7A9 SLC3A1 SLC1A4
11 L-amino acid transmembrane transporter activity GO:0015179 9.35 SLC7A9 SLC7A8 SLC7A7 SLC7A11 SLC7A10
12 neutral amino acid transmembrane transporter activity GO:0015175 9.1 SLC7A9 SLC7A8 SLC7A10 SLC3A2 SLC1A5 SLC1A4

Sources for Cystinuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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