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 75 53 25 59 74 37 29 13 55 6 44 15 40 72
Csnu 57 53 25 74
Cystinuria Type B 59 74
Cystinuria Type a 59 74
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 59
Cystinuria, Type I, Formerly 57
Cystinuria Type Non-I 74
Cystinuria-Lysinuria 53
Cystinuria, Type a/b 29
Cystinuria Type a/b 74
Cystinuria Type Iii 74
Cystinuria Type Ii 74
Cystinuria, Type B 29
Cystinuria, Type a 29
Cystinuria Type I 74
Cystinuria Type 1 72
Csnu1, Formerly 57
Csnu3, Formerly 57
Cystinuria 1 74
Csnu1 74
Csnu3 74

Characteristics:

Orphanet epidemiological data:

59
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
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:

32

Classifications:



External Ids:

Disease Ontology 12 DOID:9266
OMIM 57 220100
KEGG 37 H00901
MeSH 44 D003555
NCIt 50 C84664
SNOMED-CT 68 85020001
ICD10 33 E72.01
MESH via Orphanet 45 D003555
ICD10 via Orphanet 34 E72.0
UMLS via Orphanet 73 C0010691 C0268646 C1857388 more
UMLS 72 C0010691 C0268643

Summaries for Cystinuria

KEGG : 37
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 Chelating Agents have been mentioned in the context of this disorder. Affiliated tissues include Kidney, kidney and small intestine, 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 : 53 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)

UniProtKB/Swiss-Prot : 74 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 : 75 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 151)
# Related Disease Score Top Affiliating Genes
1 hypotonia-cystinuria syndrome 33.9 SLC7A9 SLC3A1 PREPL CAMKMT
2 2p21 microdeletion syndrome without cystinuria 33.8 PREPL CAMKMT
3 aminoaciduria 31.0 SLC7A9 SLC3A1
4 myasthenic syndrome, congenital, 22 30.2 PREPL CAMKMT
5 lysinuric protein intolerance 29.5 SLC7A7 SLC3A2 SLC3A1
6 hypotonia-cystinuria type 1 syndrome 12.2
7 nephrolithiasis, calcium oxalate 11.7
8 autosomal recessive disease 10.6
9 cystinosis 10.5
10 hypotonia 10.5
11 nephrotic syndrome 10.3
12 acute cystitis 10.3
13 hyperuricemia 10.3
14 inherited metabolic disorder 10.2
15 kidney disease 10.2
16 fanconi syndrome 10.2
17 myopathy 10.2
18 homocystinuria 10.2
19 growth hormone deficiency 10.2
20 diaminopentanuria 10.1
21 gyrate atrophy of choroid and retina 10.1
22 ataxia and polyneuropathy, adult-onset 10.1
23 pyelonephritis 10.1
24 acute kidney failure 10.1
25 paraplegia 10.1
26 dwarfism 10.1
27 alkaptonuria 10.0
28 short-rib thoracic dysplasia 1 with or without polydactyly 10.0
29 cystathioninuria 10.0
30 hartnup disorder 10.0
31 histidinemia 10.0
32 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 10.0
33 yemenite deaf-blind hypopigmentation syndrome 10.0
34 exanthem 10.0
35 polycystic kidney disease 10.0
36 rickets 10.0
37 hydronephrosis 10.0
38 gout 10.0
39 renal tubular acidosis 10.0
40 urinary tract obstruction 10.0
41 intestinal disease 10.0
42 end stage renal failure 10.0
43 chronic kidney disease 10.0
44 night blindness 10.0
45 muscular dystrophy 10.0
46 paroxysmal dyskinesia 10.0
47 bladder disease 9.9 SLC7A9 SLC3A1
48 cleft palate, isolated 9.9
49 diabetes insipidus, nephrogenic, autosomal 9.9
50 beckwith-wiedemann syndrome 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:

59 32 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of amino acid metabolism 59 32 hallmark (90%) Very frequent (99-80%) HP:0004337
2 hematuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0000790
3 nephrolithiasis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000787
4 renal insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0000083
5 hyperuricemia 59 32 frequent (33%) Frequent (79-30%) HP:0002149
6 recurrent urinary tract infections 32 HP:0000010
7 abnormality of the nervous system 32 HP:0000707
8 cystinuria 32 HP:0003131
9 argininuria 32 HP:0003268
10 hyperlysinuria 32 HP:0003297
11 ornithinuria 32 HP:0003532

Symptoms via clinical synopsis from OMIM:

57
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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased HPV16-GFP infection GR00350-A 8.8 OAT PREPL SLC7A13

MGI Mouse Phenotypes related to Cystinuria:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.81 CAMKMT OAT SLC3A1 SLC3A2 SLC7A10 SLC7A11
2 muscle MP:0005369 9.35 CAMKMT PREPL SLC3A1 SLC7A10 SLC7A7
3 renal/urinary system MP:0005367 9.02 CAMKMT OAT SLC3A1 SLC7A7 SLC7A9

Drugs & Therapeutics for Cystinuria

DrugBank drugs 16 :

# Drug Name Indication DrugBank ID
1 Acetazolamide For adjunctive treatment of: edema due to congestive heart failure; drug-induced edema; centrencephalic epilepsies; chronic simple (open-angle) glaucoma DB00819
2 Penicillamine For treatment of Wilson's disease, cystinuria and active rheumatoid arthritis. DB00859

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

(show top 50) (show all 53)
# 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 Antidotes Phase 4
5 Antirheumatic Agents Phase 4
6
Sulfamethoxazole Approved Phase 2 723-46-6 5329
7
acetic acid Approved Phase 2 64-19-7 176
8
Glycine Approved, Nutraceutical, Vet_approved Phase 2 56-40-6 750
9
Vitamin A Approved, Nutraceutical, Vet_approved Phase 2 22737-96-8, 11103-57-4, 68-26-8 9904001 445354
10
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
11 Bucillamine Investigational Phase 2 65002-17-7
12 Analgesics, Non-Narcotic Phase 2
13 Peripheral Nervous System Agents Phase 2
14 Analgesics Phase 2
15 Anti-Inflammatory Agents, Non-Steroidal Phase 2
16 cysteine Phase 2
17 Anti-Inflammatory Agents Phase 2
18 Anti-Infective Agents Phase 2
19 Adjuvants, Immunologic Phase 2
20 Retinol palmitate Phase 2
21 Neurotransmitter Agents Phase 2
22 Anti-Bacterial Agents Phase 2
23
Retinol acetate Phase 2 127-47-9 10245972
24 retinol Phase 2
25 Immunologic Factors Phase 2
26 Micronutrients Phase 2
27 Trace Elements Phase 2
28 Antioxidants Phase 2
29 Alpha-lipoic Acid Phase 2
30 Vitamins Phase 2
31 Vitamin B9 Phase 2
32 Folate Phase 2
33 Nutrients Phase 2
34 Vitamin B Complex Phase 2
35 Thioctic Acid Phase 2
36
Tolvaptan Approved 150683-30-0 216237
37
Sodium citrate Approved, Investigational 68-04-2
38
Potassium Citrate Approved, Investigational, Vet_approved
39
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
40
Calcium Approved, Nutraceutical 7440-70-2 271
41 Anesthetics
42 Hormones
43 Antidiuretic Hormone Receptor Antagonists
44 Vasopressins
45 Arginine Vasopressin
46 Natriuretic Agents
47 Citrate
48 Respiratory System Agents
49 diuretics
50 Expectorants

Interventional clinical trials:

(show all 22)
# 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 Sulfamethoxazole for the Treatment of Primary PREPL Deficiency (In Dutch: Sulfamethoxazole Ter Behandeling Van Primaire PREPL deficiëntie) Unknown status NCT02640443 Phase 2 Sulfamethoxazole
3 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
4 Cystone for Treatment of Nephrolithiasis Completed NCT00381849 Phase 1, Phase 2 Cystone;Sugar Pill (Placebo)
5 Phase II Study of the Effects of Tiopronin on 3-Aminopropanal Level & Neurologic Outcome After Aneurysmal Subarachnoid Hemorrhage Completed NCT01095731 Phase 2 Tiopronin;Placebo
6 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
7 The Effect of Lipoic Acid Natural Supplement on Cystine Stone Formation Recruiting NCT02910531 Phase 2 Placebo
8 PREPL in Health and Disease Unknown status NCT02263781
9 Influence of Hypocaloric Diet on Urinary Lithogenic Factors of Obese Patients With Kidney Stones Unknown status NCT02690662
10 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
11 Cystine Capacity Clinical Study (CysCap) Completed NCT02120105
12 Salivary Proteomics in Disease and Health Completed NCT00100204
13 Effect of Urine Alkalinazation on Urinary Inflammatory Markers Analyzed Using Mass Spectrometry in Patients With Cystinuria Recruiting NCT03836144
14 Rare Kidney Stone Consortium Biobank, Rare Diseases Clinical Research Network Recruiting NCT02026388
15 Rare Kidney Stone Consortium Registry for Hereditary Kidney Stone Diseases Recruiting NCT00588562
16 Prospective Research Rare Kidney Stones (ProRKS) Recruiting NCT02780297
17 Assessment of Health-related Quality of Life in Rare Kidney Stone Formers in the Rare Kidney Stone Consortium Recruiting NCT02124395
18 Characterization of Monogenic Kidney Stone Diseases Recruiting NCT03305835
19 Randall's Plaques: Pathogenesis and Relationship to Nephrolithiasis Recruiting NCT00169806
20 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
21 Stone Disease in Children and Their Families Available NCT00765531
22 Genetic Study of Nephrolithiasis in Gouty Diathesis Terminated NCT00149305

Search NIH Clinical Center for Cystinuria

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Acetazolamide
Iodoquinol
Penicillamine
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 B 29
3 Cystinuria, Type a/b 29
4 Cystinuria, Type a 29

Anatomical Context for Cystinuria

MalaCards organs/tissues related to Cystinuria:

41
Kidney, Small Intestine, Testes, Colon, Skin, Lung, Retina
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 1246)
# 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. 9 38 8 71
17539912 2007
2
New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype. 9 38 8 71
15635077 2005
3
Significant contribution of genomic rearrangements in SLC3A1 and SLC7A9 to the etiology of cystinuria. 9 38 8 71
14531788 2003
4
Mutation analysis of SLC7A9 in cystinuria patients in Sweden. 9 38 8 71
12820697 2003
5
SLC7A9 mutations in all three cystinuria subtypes. 9 38 8 71
12371955 2002
6
Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients. 9 38 8 71
11748844 2001
7
Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria. 9 38 8 71
11157794 2001
8
Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT. 9 38 8 71
10471498 1999
9
Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine. 9 38 8 71
8054986 1994
10
Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients. 38 8 71
21255007 2012
11
[An isolated defect of the tubular cystine reabsorption in a family with idiopathic hypoparathyroidism]. 8 71
6031738 1967
12
Distinct classes of trafficking rBAT mutants cause the type I cystinuria phenotype. 9 38 8
18332091 2008
13
Functional analysis of a new splice site mutation, c.605-3C>A, in the cystinuria gene SLC7A9 leading to exon skipping. 9 38 71
15670723 2005
14
Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification. 9 38 8
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. 9 38 71
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. 9 38 8
10449648 1999
17
Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1. 9 38 8
9042921 1997
18
Molecular analysis of cystinuria in Libyan Jews: exclusion of the SLC3A1 gene and mapping of a new locus on 19q. 9 38 8
9042922 1997
19
Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism. 9 38 71
8792820 1996
20
Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity. 9 38 8
7573036 1995
21
Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria. 9 38 8
7568194 1995
22
Clinical utility gene card for: Cystinuria. 38 71
21863055 2012
23
A mouse model for cystinuria type I. 38 8
12923163 2003
24
Biochemical and clinical studies in Libyan Jewish cystinuria patients and their relatives. 38 8
9805137 1998
25
Localization of a gene causing cystinuria to chromosome 2p. 38 8
8054985 1994
26
Prospective analysis and classification of patients with cystinuria identified in a newborn screening program. 38 8
8463902 1993
27
Balanced translocation (14;20) in a mentally handicapped child with cystinuria. 38 8
1640435 1992
28
Cystinuria in dogs: comparison of the cystinuric component of the Fanconi syndrome in basenji dogs to isolated cystinuria. 38 8
2909832 1989
29
Cystinuria and its treatment: 25 years experience at St. Bartholomew's Hospital. 38 8
2502678 1989
30
Heterozygous cystinuria and urinary lithiasis. 38 8
3934971 1985
31
Cystinuria genotypes predicted from excretion patterns. 38 8
263436 1978
32
Cystinuria and mental deficiency. 38 8
589855 1977
33
High frequency of cystinuria among Jews of Libyan origin. 38 8
4465285 1974
34
Cystinuria: increased prevalence in patients with mental disease. 38 8
5456234 1970
35
Factors involved in crystal formation in cystinuria. Reduction of cystine crystalluria with chlordiazepoxide and during nephrotic syndrome. 38 8
5695507 1968
36
Cystinuria: genetic heterogeneity and allelism. 38 8
5925065 1966
37
Cystinuria: biochemical evidence for three genetically distinct diseases. 38 8
5904553 1966
38
Intestinal absorption and renal extraction of cystine and cysteine in cystinuria. 38 8
5841926 1965
39
Cystinuria in Sweden. II. The incidence of homozygous cystinuria in Swedish schoolchildren. 38 8
13803097 1959
40
Cystinuria in Sweden. III. The prognosis of homozygous cystinuria. 38 8
13649164 1959
41
Sir Archibald Garrod's inborn errors of metabolism. I. Cystinuria. 38 8
13520695 1958
42
Phenotypes and genotypes in cystinuria. 38 8
13249226 1955
43
Filter paper saturated by urine sample in metabolic disorders detection by proton magnetic resonance spectroscopy. 9 38
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. 9 38
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. 9 38
19782624 2010
46
An overview of SLC3A1 and SLC7A9 mutations in Greek cystinuria patients. 9 38
18778962 2008
47
Twenty-four novel mutations identified in a cohort of 85 patients by direct sequencing of the SLC3A1 and SLC7A9 cystinuria genes. 9 38
18752446 2008
48
Multi-system disorder syndromes associated with cystinuria type I. 9 38
18781961 2008
49
Cystinuria. 9 38
18359399 2008
50
Evaluation of cystine transport in cultured human kidney cells and establishment of cystinuria type I phenotype by antisense technology. 9 38
18074125 2008

Variations for Cystinuria

ClinVar genetic disease variations for Cystinuria:

6 (show top 50) (show all 115)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SLC3A1 NM_000341.4(SLC3A1): c.1069_1084dup (p.Arg362fs) duplication Pathogenic rs1553344107 2:44528199-44528214 2:44301060-44301075
2 SLC7A9 SLC7A9, 1-BP INS, 520T insertion Pathogenic
3 SLC7A9 NM_014270.5(SLC7A9): c.508G> A (p.Val170Met) single nucleotide variant Pathogenic rs121908479 19:33353463-33353463 19:32862557-32862557
4 SLC7A9 NM_014270.5(SLC7A9): c.313G> A (p.Gly105Arg) single nucleotide variant Pathogenic rs121908480 19:33355167-33355167 19:32864261-32864261
5 SLC7A9 NM_014270.5(SLC7A9): c.583G> A (p.Gly195Arg) single nucleotide variant Pathogenic rs121908482 19:33353388-33353388 19:32862482-32862482
6 SLC7A9 NM_014270.5(SLC7A9): c.131T> C (p.Ile44Thr) single nucleotide variant Pathogenic rs121908485 19:33355639-33355639 19:32864733-32864733
7 SLC7A9 NM_014270.5(SLC7A9): c.782C> T (p.Pro261Leu) single nucleotide variant Pathogenic rs121908486 19:33350838-33350838 19:32859932-32859932
8 SLC7A9 SLC7A9, 1-BP INS, 799A insertion Pathogenic
9 SLC7A9 NM_014270.5(SLC7A9): c.695A> G (p.Tyr232Cys) single nucleotide variant Pathogenic rs121908487 19:33353033-33353033 19:32862127-32862127
10 SLC7A9 SLC7A9, 789+2T-C single nucleotide variant Pathogenic
11 SLC7A9 NM_014270.5(SLC7A9): c.368C> T (p.Thr123Met) single nucleotide variant Pathogenic rs79987078 19:33355112-33355112 19:32864206-32864206
12 SLC3A1 NM_000341.4(SLC3A1): c.1400T> C (p.Met467Thr) single nucleotide variant Pathogenic rs121912691 2:44539792-44539792 2:44312653-44312653
13 SLC3A1 NM_000341.4(SLC3A1): c.2033T> C (p.Leu678Pro) single nucleotide variant Pathogenic rs121912693 2:44547753-44547753 2:44320614-44320614
14 SLC3A1 NM_000341.4(SLC3A1): c.542G> A (p.Arg181Gln) single nucleotide variant Pathogenic rs121912694 2:44507966-44507966 2:44280827-44280827
15 SLC3A1 NM_000341.4(SLC3A1): c.1955C> G (p.Thr652Arg) single nucleotide variant Pathogenic rs121912695 2:44547675-44547675 2:44320536-44320536
16 SLC3A1 NM_000341.4(SLC3A1): c.1843C> A (p.Pro615Thr) single nucleotide variant Pathogenic rs121912696 2:44547563-44547563 2:44320424-44320424
17 SLC3A1 SLC3A1, EX5-9DUP duplication Pathogenic
18 SLC3A1 NM_000341.4(SLC3A1): c.1085G> A (p.Arg362His) single nucleotide variant Pathogenic rs121912697 2:44528215-44528215 2:44301076-44301076
19 SLC3A1 NM_000341.4(SLC3A1): c.1597T> A (p.Tyr533Asn) single nucleotide variant Pathogenic rs387907276 2:44541070-44541070 2:44313931-44313931
20 SLC7A9 SLC7A9, 2-BP DEL, 596TG deletion Pathogenic
21 SLC7A9 NM_001243036.1(SLC7A9): c.1225-4678_1324del deletion Pathogenic 19:33324130-33328907 19:32833224-32838001
22 SLC7A9 NM_014270.5(SLC7A9): c.614dup (p.Asn206fs) duplication Pathogenic rs745319034 19:33353114-33353114 19:32862208-32862208
23 SLC3A1 NM_000341.4(SLC3A1): c.808C> T (p.Arg270Ter) single nucleotide variant Pathogenic rs200483989 2:44513213-44513213 2:44286074-44286074
24 SLC3A1 NM_000341.4(SLC3A1): c.1354C> T (p.Arg452Trp) single nucleotide variant Pathogenic rs201502095 2:44539746-44539746 2:44312607-44312607
25 SLC7A9 NM_014270.5(SLC7A9): c.671C> T (p.Ala224Val) single nucleotide variant Pathogenic 19:33353057-33353057 19:32862151-32862151
26 SLC3A1 NM_000341.4(SLC3A1): c.2020dup (p.Tyr674fs) duplication Pathogenic 2:44547740-44547740 2:44320601-44320601
27 SLC3A1 NC_000002.11: g.(?_44527090)_(44541110_?)dup duplication Pathogenic 2:44527090-44541110 2:44299951-44313971
28 SLC7A9 NM_014270.5(SLC7A9): c.544G> A (p.Ala182Thr) single nucleotide variant Pathogenic/Likely pathogenic rs79389353 19:33353427-33353427 19:32862521-32862521
29 SLC7A9 NM_014270.5(SLC7A9): c.775G> A (p.Gly259Arg) single nucleotide variant Likely pathogenic rs121908483 19:33350845-33350845 19:32859939-32859939
30 CEP89 ; SLC7A9 deletion Likely pathogenic 19:33321553-33390958 19:32830647-32900052
31 SLC3A1 NC_000002.11: g.(?_44507835)_(44573549_?)del deletion Likely pathogenic 2:44507835-44573549 2:44280696-44346410
32 SLC3A1 NM_000341.4(SLC3A1): c.1750del (p.Arg584fs) deletion Likely pathogenic rs775827496 2:44547470-44547470 2:44320331-44320331
33 SLC7A9 NM_014270.5(SLC7A9): c.749+1G> C single nucleotide variant Likely pathogenic rs1060499787 19:33351511-33351511 19:32860605-32860605
34 SLC7A9 NM_014270.5(SLC7A9): c.997C> T (p.Arg333Trp) single nucleotide variant Likely pathogenic rs121908484 19:33334838-33334838 19:32843932-32843932
35 SLC3A1 NM_000341.4(SLC3A1): c.1275_1276dup (p.Glu426fs) duplication Likely pathogenic rs797044609 2:44531420-44531421 2:44304281-44304282
36 SLC3A1 NM_000341.4(SLC3A1): c.1744T> C (p.Tyr582His) single nucleotide variant Likely pathogenic 2:44547464-44547464 2:44320325-44320325
37 SLC7A9 NM_014270.5(SLC7A9): c.88-2A> G single nucleotide variant Likely pathogenic rs1085307095 19:33355684-33355684 19:32864778-32864778
38 SLC3A1 NM_000341.4(SLC3A1): c.430+2T> G single nucleotide variant Likely pathogenic 2:44503106-44503106 2:44275967-44275967
39 SLC3A1 NM_000341.4(SLC3A1): c.1400T> A (p.Met467Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs121912691 2:44539792-44539792 2:44312653-44312653
40 SLC7A9 NM_014270.5(SLC7A9): c.605-3C> A single nucleotide variant Uncertain significance rs749913021 19:33353126-33353126 19:32862220-32862220
41 SLC7A9 NM_014270.5(SLC7A9): c.526G> A (p.Val176Ile) single nucleotide variant Uncertain significance rs138744722 19:33353445-33353445 19:32862539-32862539
42 SLC7A9 NM_014270.5(SLC7A9): c.324C> T (p.Pro108=) single nucleotide variant Uncertain significance rs375773222 19:33355156-33355156 19:32864250-32864250
43 SLC7A9 NM_014270.5(SLC7A9): c.183T> A (p.Ala61=) single nucleotide variant Uncertain significance rs142721539 19:33355587-33355587 19:32864681-32864681
44 SLC7A9 NM_014270.5(SLC7A9): c.30A> G (p.Arg10=) single nucleotide variant Uncertain significance rs765983557 19:33359411-33359411 19:32868505-32868505
45 SLC7A9 NM_014270.5(SLC7A9): c.1074+14C> A single nucleotide variant Uncertain significance rs367844535 19:33334747-33334747 19:32843841-32843841
46 SLC7A9 NM_014270.5(SLC7A9): c.827C> T (p.Thr276Ile) single nucleotide variant Uncertain significance rs886054328 19:33350793-33350793 19:32859887-32859887
47 SLC7A9 NM_014270.5(SLC7A9): c.522C> T (p.Ser174=) single nucleotide variant Uncertain significance rs142766345 19:33353449-33353449 19:32862543-32862543
48 SLC7A9 NM_014270.5(SLC7A9): c.-90G> A single nucleotide variant Uncertain significance rs886054330 19:33359530-33359530 19:32868624-32868624
49 SLC7A9 NM_014270.5(SLC7A9): c.-159G> A single nucleotide variant Uncertain significance rs768949145 19:33360639-33360639 19:32869733-32869733
50 SLC7A9 NM_014270.5(SLC7A9): c.*82C> T single nucleotide variant Uncertain significance rs537630298 19:33321444-33321444 19:32830538-32830538

UniProtKB/Swiss-Prot genetic disease variations for Cystinuria:

74 (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 Chromosom 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 rearrangemen t SLC3A1 Cystinuria

Expression for Cystinuria

Search GEO for disease gene expression data for Cystinuria.

Pathways for Cystinuria

Pathways related to Cystinuria according to KEGG:

37
# 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
12.93 SLC7A9 SLC7A7 SLC7A11 SLC7A10 SLC3A2 SLC3A1
2
Show member pathways
12.84 SLC7A9 SLC7A7 SLC7A11 SLC7A10 SLC3A2
3
Show member pathways
12.35 SLC7A9 SLC7A7 SLC3A2 SLC3A1
4
Show member pathways
11.8 SLC7A9 SLC7A7 SLC7A11 SLC7A10 SLC3A2
5 11.01 SLC7A11 SLC3A2
6 10.77 SLC7A9 SLC7A7 SLC7A11 SLC7A10 SLC3A2
7
Show member pathways
10.69 SLC7A9 SLC7A7 SLC7A11 SLC7A10 SLC3A2 SLC3A1

GO Terms for Cystinuria

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

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.76 SLC7A9 SLC7A7 SLC7A11 SLC7A10 SLC3A2 SLC3A1
2 integral component of plasma membrane GO:0005887 9.35 SLC7A9 SLC7A7 SLC7A10 SLC3A1 SLC1A4
3 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 transmembrane transport GO:0055085 9.85 SLC7A9 SLC7A7 SLC7A13 SLC7A11 SLC7A10 SLC1A4
2 leukocyte migration GO:0050900 9.72 SLC7A9 SLC7A7 SLC7A11 SLC7A10 SLC3A2
3 amino acid transmembrane transport GO:0003333 9.55 SLC7A9 SLC7A7 SLC7A13 SLC7A11 SLC7A10
4 amino acid transport GO:0006865 9.5 SLC7A9 SLC7A7 SLC7A11 SLC7A10 SLC3A2 SLC3A1
5 cellular amino acid metabolic process GO:0006520 9.48 SLC7A7 SLC3A1
6 neutral amino acid transport GO:0015804 9.46 SLC7A9 SLC7A10
7 L-serine transport GO:0015825 9.43 SLC7A10 SLC1A4
8 L-cystine transport GO:0015811 9.43 SLC7A9 SLC3A1 SLC1A4
9 basic amino acid transmembrane transport GO:1990822 9.4 SLC7A7 SLC3A1
10 L-alpha-amino acid transmembrane transport GO:1902475 8.92 SLC7A9 SLC7A7 SLC7A13 SLC7A10

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane transporter activity GO:0022857 9.65 SLC7A9 SLC7A7 SLC7A13 SLC7A11 SLC7A10
2 amino acid transmembrane transporter activity GO:0015171 9.5 SLC7A9 SLC3A1 SLC1A4
3 basic amino acid transmembrane transporter activity GO:0015174 9.4 SLC7A7 SLC3A1
4 L-serine transmembrane transporter activity GO:0015194 9.37 SLC7A10 SLC1A4
5 L-cystine transmembrane transporter activity GO:0015184 9.33 SLC7A9 SLC3A1 SLC1A4
6 neutral amino acid transmembrane transporter activity GO:0015175 9.26 SLC7A9 SLC7A10 SLC3A2 SLC1A4
7 L-amino acid transmembrane transporter activity GO:0015179 9.02 SLC7A9 SLC7A7 SLC7A13 SLC7A11 SLC7A10

Sources for Cystinuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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