CSNU
MCID: CYS013
MIFTS: 62

Cystinuria (CSNU)

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

Aliases & Classifications for Cystinuria

MalaCards integrated aliases for Cystinuria:

Name: Cystinuria 56 12 74 52 25 58 73 36 29 13 54 6 43 15 39 71
Csnu 56 52 25 73
Cystinuria Type B 58 73
Cystinuria Type a 58 73
Cystinuria, Type Iii, Formerly; Csnu3, Formerly 56
Cystinuria, Type I, Formerly; Csnu1, Formerly 56
Cystinuria, Type Non-I, Formerly 56
Cystinuria, Type Iii, Formerly 56
Cystinuria, Type Ii, Formerly 56
Cystinuria-Lysinuria Syndrome 58
Cystinuria, Type I, Formerly 56
Cystinuria Type Non-I 73
Cystinuria-Lysinuria 52
Cystinuria, Type a/b 29
Cystinuria Type a/b 73
Cystinuria Type Iii 73
Cystinuria Type Ii 73
Cystinuria, Type B 29
Cystinuria, Type a 29
Cystinuria Type I 73
Cystinuria Type 1 71
Csnu1, Formerly 56
Csnu3, Formerly 56
Cystinuria 1 73
Csnu1 73
Csnu3 73

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:

56
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 56 220100
KEGG 36 H00901
MeSH 43 D003555
NCIt 49 C84664
SNOMED-CT 67 85020001
ICD10 32 E72.01
MESH via Orphanet 44 D003555
ICD10 via Orphanet 33 E72.0
UMLS via Orphanet 72 C0010691 C0268646 C1857388 more
UMLS 71 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 2p21 microdeletion syndrome without cystinuria and hypotonia-cystinuria syndrome. 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 Chelating Agents have been mentioned in the context of this disorder. Affiliated tissues include Kidney, small intestine and testes, 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.

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. 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.

NIH Rare Diseases : 52 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 : 56 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)

UniProtKB/Swiss-Prot : 73 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 : 74 Cystinuria is an inherited autosomal recessive disease that is characterized by high concentrations of... more...

Related Diseases for Cystinuria

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

(show top 50) (show all 159)
# Related Disease Score Top Affiliating Genes
1 2p21 microdeletion syndrome without cystinuria 34.1 PREPL CAMKMT
2 hypotonia-cystinuria syndrome 33.8 SLC7A9 SLC7A10 SLC3A1 SLC1A7 PREPL PPM1B
3 nephrolithiasis, calcium oxalate 32.6 SLC7A9 SLC3A1 PRODH GRHPR
4 aminoaciduria 31.4 SLC7A9 SLC3A1
5 myasthenic syndrome, congenital, 22 30.7 SLC3A1 PREPL
6 argininemia 30.0 SLC7A7 PRODH
7 hartnup disorder 30.0 SLC3A2 SLC3A1 SLC1A7 SLC1A5 SLC1A4
8 lysinuric protein intolerance 29.2 SLC7A8 SLC7A7 SLC7A11 SLC3A2 SLC3A1 SLC1A7
9 hypotonia-cystinuria type 1 syndrome 12.2
10 autosomal recessive disease 10.6
11 cystinosis 10.5
12 hypotonia 10.5
13 nephrotic syndrome 10.3
14 adenine phosphoribosyltransferase deficiency 10.3 SLC7A9 GRHPR
15 pyrimidine metabolic disorder 10.3 SLC7A7 PRODH
16 acute cystitis 10.3
17 hyperuricemia 10.3
18 late congenital syphilis 10.3 SLC1A7 PRODH
19 early congenital syphilis 10.3 SLC1A7 PRODH
20 inherited metabolic disorder 10.2
21 allan-herndon-dudley syndrome 10.2 SLC7A8 SLC1A7
22 citrullinemia, classic 10.2 SLC7A7 OAT
23 kidney disease 10.2
24 orotic aciduria 10.2 SLC7A7 PRODH OAT
25 dicarboxylic aminoaciduria 10.2 SLC1A7 PRODH
26 xanthinuria 10.2 SLC7A9 PRODH GRHPR
27 fanconi syndrome 10.2
28 myopathy 10.2
29 homocystinuria 10.2
30 growth hormone deficiency 10.2
31 ureteral disease 10.1 SLC7A9 SLC3A2 SLC3A1 SLC1A7 PREPL
32 diaminopentanuria 10.1
33 gyrate atrophy of choroid and retina 10.1
34 ataxia and polyneuropathy, adult-onset 10.1
35 pyelonephritis 10.1
36 acute kidney failure 10.1
37 paraplegia 10.1
38 dwarfism 10.1
39 primary hyperoxaluria 10.1 PRODH OAT GRHPR
40 urea cycle disorder 10.1 SLC7A7 PRODH
41 alkaptonuria 10.0
42 short-rib thoracic dysplasia 1 with or without polydactyly 10.0
43 cystathioninuria 10.0
44 histidinemia 10.0
45 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 10.0
46 yemenite deaf-blind hypopigmentation syndrome 10.0
47 exanthem 10.0
48 polycystic kidney disease 10.0
49 rickets 10.0
50 hydronephrosis 10.0

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 abnormality of the nervous system 31 HP:0000707
7 recurrent urinary tract infections 31 HP:0000010
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:

56
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

Drugs & Therapeutics for Cystinuria

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

(show top 50) (show all 51)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Penicillamine Approved Phase 4 52-67-5 5852 4727
2 Chelating Agents Phase 4
3 Protective Agents Phase 4
4 Antirheumatic Agents Phase 4
5 Antidotes Phase 4
6
Potassium citrate Approved, Investigational, Vet_approved Phase 2, Phase 3
7
Sodium citrate Approved, Investigational Phase 2, Phase 3 68-04-2
8
Citric acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 77-92-9 311
9
Calcium Approved, Nutraceutical Phase 2, Phase 3 7440-70-2 271
10 Natriuretic Agents Phase 2, Phase 3
11 Respiratory System Agents Phase 2, Phase 3
12 Citrate Phase 2, Phase 3
13 Anticoagulants Phase 2, Phase 3
14 Calcium, Dietary Phase 2, Phase 3
15 diuretics Phase 2, Phase 3
16 Expectorants Phase 2, Phase 3
17
Sulfamethoxazole Approved Phase 2 723-46-6 5329
18
acetic acid Approved Phase 2 64-19-7 176
19
Cysteine Approved, Nutraceutical Phase 2 52-90-4 5862
20
Vitamin A Approved, Nutraceutical, Vet_approved Phase 2 68-26-8, 11103-57-4, 22737-96-8 445354 9904001
21
Glycine Approved, Nutraceutical, Vet_approved Phase 2 56-40-6 750
22
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
23
Bucillamine Investigational Phase 2 65002-17-7
24 Anti-Inflammatory Agents Phase 2
25 Analgesics, Non-Narcotic Phase 2
26 Anti-Inflammatory Agents, Non-Steroidal Phase 2
27 Analgesics Phase 2
28 Anti-Infective Agents Phase 2
29 Neurotransmitter Agents Phase 2
30 retinol Phase 2
31 Immunologic Factors Phase 2
32
Retinol acetate Phase 2 127-47-9 10245972
33 Retinol palmitate Phase 2
34 Adjuvants, Immunologic Phase 2
35 Anti-Bacterial Agents Phase 2
36 Trace Elements Phase 2
37 Micronutrients Phase 2
38 Vitamins Phase 2
39 Antioxidants Phase 2
40 Nutrients Phase 2
41 Vitamin B Complex Phase 2
42 Vitamin B9 Phase 2
43 Alpha-lipoic Acid Phase 2
44 Folate Phase 2
45 Thioctic Acid Phase 2
46
Tolvaptan Approved 150683-30-0 216237
47 Anesthetics
48 Arginine Vasopressin
49 Hormones
50 Vasopressins

Interventional clinical trials:

(show all 24)
# 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 Sulfamethoxazole for the Treatment of Primary PREPL Deficiency (In Dutch: Sulfamethoxazole Ter Behandeling Van Primaire PREPL deficiëntie) Unknown status NCT02640443 Phase 2 Sulfamethoxazole
5 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
6 Cystone for Treatment of Nephrolithiasis Completed NCT00381849 Phase 1, Phase 2 Cystone;Sugar Pill (Placebo)
7 Phase II Study of the Effects of Tiopronin on 3-Aminopropanal Level & Neurologic Outcome After Aneurysmal Subarachnoid Hemorrhage Completed NCT01095731 Phase 2 Tiopronin;Placebo
8 Effect of Increasing Doses of Tiopronin on Cystine Capacity in Patients With Cystinuria Recruiting NCT03663855 Phase 2 7 Days Tiopronin;500 mg Tiopronin;1 grams per day of Tiopronin;2 grams per day of Tiopronin
9 The Effect of Lipoic Acid Natural Supplement on Cystine Stone Formation Recruiting NCT02910531 Phase 2 Placebo
10 PREPL in Health and Disease Unknown status NCT02263781
11 Influence of Hypocaloric Diet on Urinary Lithogenic Factors of Obese Patients With Kidney Stones Unknown status NCT02690662
12 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
13 Cystine Capacity Clinical Study (CysCap) Completed NCT02120105
14 Salivary Proteomics in Disease and Health Completed NCT00100204
15 Effect of Urine Alkalinazation on Urinary Inflammatory Markers Analyzed Using Mass Spectrometry in Patients With Cystinuria Recruiting NCT03836144
16 Rare Kidney Stone Consortium Biobank, Rare Diseases Clinical Research Network Recruiting NCT02026388
17 Rare Kidney Stone Consortium Registry for Hereditary Kidney Stone Diseases Recruiting NCT00588562
18 Prospective Research Rare Kidney Stones (ProRKS) Recruiting NCT02780297
19 Assessment of Health-related Quality of Life in Rare Kidney Stone Formers in the Rare Kidney Stone Consortium Recruiting NCT02124395
20 Characterization of Monogenic Kidney Stone Diseases Recruiting NCT03305835
21 Randall's Plaques: Pathogenesis and Relationship to Nephrolithiasis Recruiting NCT00169806
22 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 Active, not recruiting NCT03539926
23 Stone Disease in Children and Their Families Available NCT00765531
24 Genetic Study of Nephrolithiasis in Gouty Diathesis Terminated NCT00149305

Search NIH Clinical Center for Cystinuria

Inferred drug relations via UMLS 71 / NDF-RT 50 :


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/b 29
3 Cystinuria, Type B 29
4 Cystinuria, Type a 29

Anatomical Context for Cystinuria

MalaCards organs/tissues related to Cystinuria:

40
Kidney, Small Intestine, Testes, Retina, Colon, Skin, Lung
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 1261)
# Title Authors PMID Year
1
Isolated cystinuria (OMIM 238200) is not a separate entity but is caused by a mutation in the cystinuria gene SLC7A9. 54 61 56 6
17539912 2007
2
New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype. 54 61 56 6
15635077 2005
3
Significant contribution of genomic rearrangements in SLC3A1 and SLC7A9 to the etiology of cystinuria. 54 61 56 6
14531788 2003
4
Mutation analysis of SLC7A9 in cystinuria patients in Sweden. 54 61 56 6
12820697 2003
5
SLC7A9 mutations in all three cystinuria subtypes. 54 61 56 6
12371955 2002
6
Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients. 54 61 56 6
11748844 2001
7
Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria. 54 61 56 6
11157794 2001
8
Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT. 54 61 56 6
10471498 1999
9
Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine. 54 61 56 6
8054986 1994
10
Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients. 61 56 6
21255007 2012
11
[An isolated defect of the tubular cystine reabsorption in a family with idiopathic hypoparathyroidism]. 56 6
6031738 1967
12
Distinct classes of trafficking rBAT mutants cause the type I cystinuria phenotype. 54 61 56
18332091 2008
13
Functional analysis of a new splice site mutation, c.605-3C>A, in the cystinuria gene SLC7A9 leading to exon skipping. 54 61 6
15670723 2005
14
Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification. 54 61 56
12239244 2002
15
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
16
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. 54 61 56
10449648 1999
17
Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1. 54 61 56
9042921 1997
18
Molecular analysis of cystinuria in Libyan Jews: exclusion of the SLC3A1 gene and mapping of a new locus on 19q. 54 61 56
9042922 1997
19
Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism. 54 61 6
8792820 1996
20
Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity. 54 61 56
7573036 1995
21
Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria. 54 61 56
7568194 1995
22
Clinical utility gene card for: Cystinuria. 61 6
21863055 2012
23
A mouse model for cystinuria type I. 61 56
12923163 2003
24
Biochemical and clinical studies in Libyan Jewish cystinuria patients and their relatives. 61 56
9805137 1998
25
Localization of a gene causing cystinuria to chromosome 2p. 61 56
8054985 1994
26
Prospective analysis and classification of patients with cystinuria identified in a newborn screening program. 61 56
8463902 1993
27
Balanced translocation (14;20) in a mentally handicapped child with cystinuria. 61 56
1640435 1992
28
Cystinuria in dogs: comparison of the cystinuric component of the Fanconi syndrome in basenji dogs to isolated cystinuria. 61 56
2909832 1989
29
Cystinuria and its treatment: 25 years experience at St. Bartholomew's Hospital. 61 56
2502678 1989
30
Heterozygous cystinuria and urinary lithiasis. 61 56
3934971 1985
31
Cystinuria genotypes predicted from excretion patterns. 61 56
263436 1978
32
Cystinuria and mental deficiency. 61 56
589855 1977
33
High frequency of cystinuria among Jews of Libyan origin. 61 56
4465285 1974
34
Cystinuria: increased prevalence in patients with mental disease. 61 56
5456234 1970
35
Factors involved in crystal formation in cystinuria. Reduction of cystine crystalluria with chlordiazepoxide and during nephrotic syndrome. 61 56
5695507 1968
36
Cystinuria: genetic heterogeneity and allelism. 61 56
5925065 1966
37
Cystinuria: biochemical evidence for three genetically distinct diseases. 61 56
5904553 1966
38
Intestinal absorption and renal extraction of cystine and cysteine in cystinuria. 61 56
5841926 1965
39
Cystinuria in Sweden. II. The incidence of homozygous cystinuria in Swedish schoolchildren. 61 56
13803097 1959
40
Cystinuria in Sweden. III. The prognosis of homozygous cystinuria. 61 56
13649164 1959
41
Sir Archibald Garrod's inborn errors of metabolism. I. Cystinuria. 61 56
13520695 1958
42
Phenotypes and genotypes in cystinuria. 61 56
13249226 1955
43
Filter paper saturated by urine sample in metabolic disorders detection by proton magnetic resonance spectroscopy. 54 61
19937432 2010
44
Non-type I cystinuria associated with mental retardation and ataxia in a Korean boy with a new missence mutation(G173R) in the SLC7A9 gene. 54 61
20052367 2010
45
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 61
19782624 2010
46
An overview of SLC3A1 and SLC7A9 mutations in Greek cystinuria patients. 54 61
18778962 2008
47
Multi-system disorder syndromes associated with cystinuria type I. 54 61
18781961 2008
48
Twenty-four novel mutations identified in a cohort of 85 patients by direct sequencing of the SLC3A1 and SLC7A9 cystinuria genes. 54 61
18752446 2008
49
Cystinuria. 54 61
18359399 2008
50
Evaluation of cystine transport in cultured human kidney cells and establishment of cystinuria type I phenotype by antisense technology. 54 61
18074125 2008

Variations for Cystinuria

ClinVar genetic disease variations for Cystinuria:

6 (show top 50) (show all 114) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC7A9 NM_014270.5(SLC7A9):c.508G>A (p.Val170Met)SNV Pathogenic 5780 rs121908479 19:33353463-33353463 19:32862557-32862557
2 SLC7A9 NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg)SNV Pathogenic 5781 rs121908480 19:33355167-33355167 19:32864261-32864261
3 SLC7A9 NM_014270.5(SLC7A9):c.583G>A (p.Gly195Arg)SNV Pathogenic 5783 rs121908482 19:33353388-33353388 19:32862482-32862482
4 SLC7A9 NM_014270.5(SLC7A9):c.131T>C (p.Ile44Thr)SNV Pathogenic 5788 rs121908485 19:33355639-33355639 19:32864733-32864733
5 SLC7A9 NM_014270.5(SLC7A9):c.782C>T (p.Pro261Leu)SNV Pathogenic 5789 rs121908486 19:33350838-33350838 19:32859932-32859932
6 SLC7A9 SLC7A9, 1-BP INS, 799Ainsertion Pathogenic 5790
7 SLC7A9 NM_014270.5(SLC7A9):c.695A>G (p.Tyr232Cys)SNV Pathogenic 5791 rs121908487 19:33353033-33353033 19:32862127-32862127
8 SLC7A9 SLC7A9, 789+2T-CSNV Pathogenic 5792
9 SLC7A9 NM_014270.5(SLC7A9):c.368C>T (p.Thr123Met)SNV Pathogenic 5793 rs79987078 19:33355112-33355112 19:32864206-32864206
10 SLC3A1 SLC3A1, EX5-9DUPduplication Pathogenic 18121
11 SLC3A1 NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr)SNV Pathogenic 18115 rs121912691 2:44539792-44539792 2:44312653-44312653
12 SLC3A1 NM_000341.4(SLC3A1):c.2033T>C (p.Leu678Pro)SNV Pathogenic 18117 rs121912693 2:44547753-44547753 2:44320614-44320614
13 SLC3A1 NM_000341.4(SLC3A1):c.542G>A (p.Arg181Gln)SNV Pathogenic 18118 rs121912694 2:44507966-44507966 2:44280827-44280827
14 SLC3A1 NM_000341.4(SLC3A1):c.1955C>G (p.Thr652Arg)SNV Pathogenic 18119 rs121912695 2:44547675-44547675 2:44320536-44320536
15 SLC3A1 NM_000341.4(SLC3A1):c.1843C>A (p.Pro615Thr)SNV Pathogenic 18120 rs121912696 2:44547563-44547563 2:44320424-44320424
16 SLC3A1 NM_000341.4(SLC3A1):c.1085G>A (p.Arg362His)SNV Pathogenic 18122 rs121912697 2:44528215-44528215 2:44301076-44301076
17 SLC3A1 NM_000341.4(SLC3A1):c.1597T>A (p.Tyr533Asn)SNV Pathogenic 37080 rs387907276 2:44541070-44541070 2:44313931-44313931
18 SLC7A9 NM_001243036.1(SLC7A9):c.1225-4678_1324deldeletion Pathogenic 242913 19:33324130-33328907 19:32833224-32838001
19 SLC7A9 NM_014270.5(SLC7A9):c.614dup (p.Asn206fs)duplication Pathogenic 288197 rs745319034 19:33353113-33353114 19:32862207-32862208
20 SLC7A9 SLC7A9, 2-BP DEL, 596TGdeletion Pathogenic 5785
21 SLC7A9 SLC7A9, 1-BP INS, 520Tinsertion Pathogenic 5786
22 SLC3A1 NM_000341.4(SLC3A1):c.808C>T (p.Arg270Ter)SNV Pathogenic 336195 rs200483989 2:44513213-44513213 2:44286074-44286074
23 SLC3A1 NM_000341.4(SLC3A1):c.1354C>T (p.Arg452Trp)SNV Pathogenic 336205 rs201502095 2:44539746-44539746 2:44312607-44312607
24 SLC3A1 NM_000341.4(SLC3A1):c.1069_1084dup (p.Arg362fs)duplication Pathogenic 431486 rs1553344107 2:44528198-44528199 2:44301059-44301060
25 SLC7A9 NM_014270.5(SLC7A9):c.671C>T (p.Ala224Val)SNV Pathogenic 631809 rs140873167 19:33353057-33353057 19:32862151-32862151
26 SLC3A1 NM_000341.4(SLC3A1):c.2020dup (p.Tyr674fs)duplication Pathogenic 642723 2:44547739-44547740 2:44320600-44320601
27 SLC3A1 NC_000002.11:g.(?_44527090)_(44541110_?)dupduplication Pathogenic 648524 2:44527090-44541110 2:44299951-44313971
28 SLC7A9 NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr)SNV Pathogenic/Likely pathogenic 5782 rs79389353 19:33353427-33353427 19:32862521-32862521
29 SLC7A9 NM_014270.5(SLC7A9):c.775G>A (p.Gly259Arg)SNV Likely pathogenic 5784 rs121908483 19:33350845-33350845 19:32859939-32859939
30 SLC3A1 NM_000341.4(SLC3A1):c.1275_1276dup (p.Glu426fs)duplication Likely pathogenic 212741 rs797044609 2:44531419-44531420 2:44304280-44304281
31 SLC7A9 NM_014270.5(SLC7A9):c.997C>T (p.Arg333Trp)SNV Likely pathogenic 5787 rs121908484 19:33334838-33334838 19:32843932-32843932
32 SLC7A9 NM_014270.5(SLC7A9):c.88-2A>GSNV Likely pathogenic 225476 rs1085307095 19:33355684-33355684 19:32864778-32864778
33 SLC3A1 NM_000341.4(SLC3A1):c.1744T>C (p.Tyr582His)SNV Likely pathogenic 644169 2:44547464-44547464 2:44320325-44320325
34 CEP89 , SLC7A9 deletion Likely pathogenic 560031 19:33321553-33390958 19:32830647-32900052
35 SLC3A1 NM_000341.4(SLC3A1):c.430+2T>GSNV Likely pathogenic 568132 rs1558450604 2:44503106-44503106 2:44275967-44275967
36 SLC3A1 NC_000002.11:g.(?_44507835)_(44573549_?)deldeletion Likely pathogenic 526035 2:44507835-44573549 2:44280696-44346410
37 SLC3A1 NM_000341.4(SLC3A1):c.1750del (p.Arg584fs)deletion Likely pathogenic 375410 rs775827496 2:44547469-44547469 2:44320330-44320330
38 SLC7A9 NM_014270.5(SLC7A9):c.749+1G>CSNV Likely pathogenic 402239 rs1060499787 19:33351511-33351511 19:32860605-32860605
39 SLC7A9 NM_014270.5(SLC7A9):c.1059C>T (p.Pro353=)SNV Conflicting interpretations of pathogenicity 328749 rs139388814 19:33334776-33334776 19:32843870-32843870
40 SLC7A9 NM_014270.5(SLC7A9):c.228G>C (p.Ala76=)SNV Conflicting interpretations of pathogenicity 328766 rs34310174 19:33355542-33355542 19:32864636-32864636
41 SLC7A9 NM_014270.5(SLC7A9):c.1403C>T (p.Pro468Leu)SNV Conflicting interpretations of pathogenicity 328743 rs80283711 19:33321587-33321587 19:32830681-32830681
42 SLC3A1 NM_000341.4(SLC3A1):c.1137-3T>CSNV Conflicting interpretations of pathogenicity 336200 rs555017366 2:44531279-44531279 2:44304140-44304140
43 SLC3A1 NM_000341.4(SLC3A1):c.1767C>T (p.Ile589=)SNV Conflicting interpretations of pathogenicity 336211 rs142141929 2:44547487-44547487 2:44320348-44320348
44 SLC3A1 NM_000341.4(SLC3A1):c.417C>T (p.Asn139=)SNV Conflicting interpretations of pathogenicity 336189 rs150870922 2:44503091-44503091 2:44275952-44275952
45 SLC3A1 NM_000341.4(SLC3A1):c.892-6C>GSNV Conflicting interpretations of pathogenicity 336196 rs114640930 2:44527104-44527104 2:44299965-44299965
46 SLC3A1 NM_000341.4(SLC3A1):c.1400T>A (p.Met467Lys)SNV Conflicting interpretations of pathogenicity 18116 rs121912691 2:44539792-44539792 2:44312653-44312653
47 SLC3A1 NM_000341.4(SLC3A1):c.1334T>C (p.Ile445Thr)SNV Uncertain significance 225474 rs187962930 2:44539726-44539726 2:44312587-44312587
48 SLC7A9 NM_014270.5(SLC7A9):c.988G>A (p.Val330Met)SNV Uncertain significance 161392 rs201618022 19:33334847-33334847 19:32843941-32843941
49 SLC7A9 NM_014270.5(SLC7A9):c.1399+4_1399+7delshort repeat Uncertain significance 208614 rs747593886 19:33324048-33324051 19:32833142-32833145
50 SLC3A1 NM_000341.4(SLC3A1):c.478G>C (p.Val160Leu)SNV Uncertain significance 336191 rs886056068 2:44507902-44507902 2:44280763-44280763

UniProtKB/Swiss-Prot genetic disease variations for Cystinuria:

73 (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 C2orf34 Cystinuria
3 145638 2 41600000 47600000 Microdeletion PP2Cb 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
13.06 SLC9A7 SLC7A9 SLC7A8 SLC7A7 SLC7A11 SLC7A10
2
Show member pathways
12.92 SLC7A9 SLC7A8 SLC7A7 SLC7A11 SLC7A10 SLC3A2
3
Show member pathways
12.52 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 10.1 SLC9A7 SLC7A9 SLC7A8 SLC7A7 SLC7A11 SLC7A10
2 integral component of plasma membrane GO:0005887 9.8 SLC7A9 SLC7A8 SLC7A7 SLC7A10 SLC3A1 SLC1A5
3 plasma membrane GO:0005886 9.77 SLC9A7 SLC7A9 SLC7A8 SLC7A7 SLC7A11 SLC7A10
4 melanosome GO:0042470 9.33 SLC3A2 SLC1A5 SLC1A4
5 brush border membrane GO:0031526 8.8 SLC7A9 SLC7A11 SLC3A1

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

# Name GO ID Score Top Affiliating Genes
1 leukocyte migration GO:0050900 9.88 SLC7A9 SLC7A8 SLC7A7 SLC7A11 SLC7A10 SLC3A2
2 transmembrane transport GO:0055085 9.85 SLC9A7 SLC7A9 SLC7A8 SLC7A7 SLC7A11 SLC7A10
3 amino acid transmembrane transport GO:0003333 9.65 SLC7A9 SLC7A8 SLC7A7 SLC7A11 SLC7A10
4 neutral amino acid transport GO:0015804 9.62 SLC7A9 SLC7A8 SLC7A10 SLC1A5
5 L-serine transport GO:0015825 9.61 SLC7A10 SLC1A5 SLC1A4
6 L-cystine transport GO:0015811 9.54 SLC7A9 SLC3A1 SLC1A4
7 glutamine transport GO:0006868 9.48 SLC1A5 SLC1A4
8 basic amino acid transmembrane transport GO:1990822 9.46 SLC7A7 SLC3A1
9 L-alpha-amino acid transmembrane transport GO:1902475 9.35 SLC7A9 SLC7A8 SLC7A7 SLC7A10 SLC3A2
10 amino acid transport GO:0006865 9.28 SLC7A9 SLC7A8 SLC7A7 SLC7A11 SLC7A10 SLC3A2

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane transporter activity GO:0022857 9.77 SLC7A9 SLC7A8 SLC7A7 SLC7A11 SLC7A10
2 symporter activity GO:0015293 9.63 SLC1A7 SLC1A5 SLC1A4
3 amino acid transmembrane transporter activity GO:0015171 9.55 SLC7A9 SLC7A8 SLC3A1 SLC1A5 SLC1A4
4 L-serine transmembrane transporter activity GO:0015194 9.5 SLC7A10 SLC1A5 SLC1A4
5 peptide antigen binding GO:0042605 9.48 SLC7A9 SLC7A8
6 basic amino acid transmembrane transporter activity GO:0015174 9.43 SLC7A7 SLC3A1
7 L-cystine transmembrane transporter activity GO:0015184 9.43 SLC7A9 SLC3A1 SLC1A4
8 L-glutamine transmembrane transporter activity GO:0015186 9.4 SLC1A5 SLC1A4
9 L-amino acid transmembrane transporter activity GO:0015179 9.35 SLC7A9 SLC7A8 SLC7A7 SLC7A11 SLC7A10
10 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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