CSNU
MCID: CYS013
MIFTS: 63

Cystinuria (CSNU) malady

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

Aliases & Classifications for Cystinuria

Aliases & Descriptions for Cystinuria:

Name: Cystinuria 54 38 12 50 24 25 56 66 29 13 52 42 14 69
Csnu 50 25 66
Cystinuria Type B 56 66
Cystinuria Type a 56 66
Csnu1 24 66
Csnu3 24 66
Cystinuria-Lysinuria Syndrome 56
Cystinuria Type Non-I 66
Cystinuria-Lysinuria 50
Cystinuria, Type Iii 24
Cystinuria, Type Ii 24
Cystinuria Type a/b 66
Cystinuria Type Iii 66
Cystinuria, Type I 24
Cystinuria Type Ii 66
Cystinuria Type I 66
Cystinuria Type 1 69
Cystinuria 1 66

Characteristics:

Orphanet epidemiological data:

56
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;

HPO:

32

Classifications:



External Ids:

OMIM 54 220100
Disease Ontology 12 DOID:9266
ICD10 33 E72.01
MeSH 42 D003555
NCIt 47 C84664
ICD10 via Orphanet 34 E72.0
MESH via Orphanet 43 D003555
UMLS via Orphanet 70 C0010691 C0268646
UMLS 69 C0010691

Summaries for Cystinuria

NIH Rare Diseases : 50 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. last updated: 5/12/2015

MalaCards based summary : Cystinuria, also known as csnu, is related to hypotonia-cystinuria syndrome and 2p21 microdeletion syndrome without cystinuria, and has symptoms including abnormality of amino acid metabolism, renal insufficiency and hyperuricemia. An important gene associated with Cystinuria is SLC3A1 (Solute Carrier Family 3 Member 1), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Response to elevated platelet cytosolic Ca2+. The drugs Sulfamethoxazole and Folic Acid have been mentioned in the context of this disorder. Affiliated tissues include Kidney, kidney and testes, and related phenotypes are homeostasis/metabolism and renal/urinary system

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.

OMIM : 54 Cystinuria is an autosomal disorder characterized by impaired epithelial cell transport of cystine and dibasic amino... (220100) more...

UniProtKB/Swiss-Prot : 66 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 : 71 Cystinuria is an inherited autosomal recessivedisease 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 60)
id Related Disease Score Top Affiliating Genes
1 hypotonia-cystinuria syndrome 12.3
2 2p21 microdeletion syndrome without cystinuria 11.8
3 nephrolithiasis 11.2
4 hypotonia-homocystinuria syndrome 10.8
5 alexander disease type i 10.2 CAMKMT PREPL
6 amyloidosis bronchopulmonary 10.1 SLC3A1 SLC7A9
7 meningitis and encephalitis 10.1 CAMKMT PREPL SLC3A1
8 borderline glaucoma 10.0 SLC3A1 SLC7A7 SLC7A9
9 ichthyosis, congenital, autosomal recessive 1 10.0 SLC3A1 SLC3A2 SLC7A7
10 hypotonia 10.0
11 ossicular malformations, familial 10.0 OAT SLC6A18
12 pancreatic lipase deficiency 10.0 OAT SLC6A18
13 dyskeratosis congenita, autosomal dominant 2 9.9 SLC1A4 SLC6A18
14 hyperuricemia 9.9
15 fanconi syndrome 9.9
16 cystinosis 9.9
17 nephrotic syndrome 9.9
18 congenital hypogammaglobulinemia 9.8 OAT SLC6A18
19 aminoaciduria 9.7
20 arthritis 9.7
21 ataxia 9.7
22 rheumatoid arthritis 9.7
23 cystathioninuria 9.7
24 homocystinuria 9.7
25 choroiditis 9.7
26 diarrhea 5, with tufting enteropathy, congenital 9.7 CAMKMT PPM1B PREPL SLC3A1 SLC7A9
27 phenylketonuria 9.6
28 dementia 9.6
29 lysinuric protein intolerance 9.6
30 hyperparathyroidism 9.6
31 growth hormone deficiency 9.6
32 pentosuria 9.6
33 ureterolithiasis 9.6
34 wells syndrome 9.6
35 ichthyosis 9.6
36 leukemia 9.6
37 squamous cell carcinoma 9.6
38 renal tubular acidosis 9.6
39 bardet-biedl syndrome 9.6
40 spinal muscular atrophy 9.6
41 retinitis 9.6
42 muckle-wells syndrome 9.6
43 dermatomyositis 9.6
44 kidney disease 9.6
45 lymphoblastic leukemia 9.6
46 paraplegia 9.6
47 alkaptonuria 9.6
48 muscular atrophy 9.6
49 cerebellar ataxia 9.6
50 duodenitis 9.6

Graphical network of the top 20 diseases related to Cystinuria:



Diseases related to Cystinuria

Symptoms & Phenotypes for Cystinuria

Symptoms by clinical synopsis from OMIM:

220100

Clinical features from OMIM:

220100

Human phenotypes related to Cystinuria:

56 32 (show all 11)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of amino acid metabolism 56 32 Very frequent (99-80%) HP:0004337
2 renal insufficiency 56 32 Frequent (79-30%) HP:0000083
3 hyperuricemia 56 32 Frequent (79-30%) HP:0002149
4 hematuria 56 32 Very frequent (99-80%) HP:0000790
5 nephrolithiasis 56 32 Very frequent (99-80%) HP:0000787
6 abnormality of the nervous system 32 HP:0000707
7 recurrent urinary tract infections 32 HP:0000010
8 cystinuria 32 HP:0003131
9 argininuria 32 HP:0003268
10 hyperlysinuria 32 HP:0003297
11 ornithinuria 32 HP:0003532

MGI Mouse Phenotypes related to Cystinuria:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.61 CAMKMT OAT SLC3A1 SLC3A2 SLC6A18 SLC7A10
2 renal/urinary system MP:0005367 9.1 SLC7A7 SLC7A9 CAMKMT OAT SLC3A1 SLC6A18

Drugs & Therapeutics for Cystinuria

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

(show all 31)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sulfamethoxazole Approved Phase 2 723-46-6 5329
2
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
3 Analgesics Phase 2
4 Analgesics, Non-Narcotic Phase 2
5 Anti-Inflammatory Agents Phase 2
6 Anti-Inflammatory Agents, Non-Steroidal Phase 2
7 Antioxidants Phase 2
8 Antirheumatic Agents Phase 2
9 bucillamine Phase 2
10 Peripheral Nervous System Agents Phase 2
11 Protective Agents Phase 2
12 Anti-Infective Agents Phase 2
13 Micronutrients Phase 2
14 Thioctic Acid Phase 2
15 Trace Elements Phase 2
16 Vitamin B Complex Phase 2
17 Vitamins Phase 2
18 cysteine Nutraceutical Phase 2
19 Alpha-lipoic Acid Nutraceutical Phase 2
20 Folate Nutraceutical Phase 2
21 Vitamin B9 Nutraceutical Phase 2
22
Penicillamine Approved 52-67-5 5852 4727
23
Tolvaptan Approved 150683-30-0 216237
24 Anesthetics
25 Hormones
26 Antidotes
27 Chelating Agents
28 Arginine Vasopressin
29 Natriuretic Agents
30 Vasopressins
31 Noni Nutraceutical

Interventional clinical trials:

(show all 14)
id Name Status NCT ID Phase
1 Use of an Herbal Preparation to Prevent and Dissolve Kidney Stones Completed NCT00381849 Phase 1, Phase 2
2 Bucillamine Phase 2 Trial in Patients With Cystinuria Recruiting NCT02942420 Phase 2
3 Sulfamethoxazole for the Treatment of Primary PREPL Deficiency Enrolling by invitation NCT02640443 Phase 2
4 Lipoic Acid Supplement for Cystine Stone Not yet recruiting NCT02910531 Phase 2
5 PREPL in Health and Disease Unknown status NCT02263781
6 Rare Kidney Stone Consortium Patient Registry Recruiting NCT00588562
7 Rare Kidney Stone Consortium Biobank Recruiting NCT02026388
8 Prospective Research Rare Kidney Stones (ProRKS) Recruiting NCT02780297
9 Health-related Quality of Life in Rare Kidney Stone Recruiting NCT02124395
10 Randall's Plaque Study: Pathogenesis and Relationship to Nephrolithiasis Recruiting NCT00169806
11 Effect of Increasing Doses of Cystine Binding Thiol Drugs on Cystine Capacity in Patients With Cystinuria Active, not recruiting NCT02125721
12 Cystine Capacity Clinical Study (CysCap) Active, not recruiting NCT02120105
13 TCUPS- Tolvaptan Use in Cyctinuria and Urolithiasis: A Pilot Study Not yet recruiting NCT02538016
14 Genetic Study of Nephrolithiasis in Gouty Diathesis Terminated NCT00149305

Search NIH Clinical Center for Cystinuria

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: cystinuria

Genetic Tests for Cystinuria

Genetic tests related to Cystinuria:

id Genetic test Affiliating Genes
1 Cystinuria 29 24 SLC7A9 SLC3A1

Anatomical Context for Cystinuria

MalaCards organs/tissues related to Cystinuria:

39
Kidney, Testes, Colon, Retina, Skin, Breast, Spinal Cord
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

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

Publications for Cystinuria

Articles related to Cystinuria:

(show top 50) (show all 554)
id Title Authors Year
1
Re: Can the Presence of Crystalluria Predict Stone Formation in Patients with Cystinuria? ( 27979524 )
2017
2
Medical Nutrition Therapy for Pediatric Kidney Stone Prevention, Part 3: Cystinuria. ( 28411956 )
2017
3
Genotype and Phenotype Analysis in Pediatric Patients with Cystinuria. ( 28049243 )
2017
4
I+-Lipoic acid treatment prevents cystine urolithiasis in a mouse model of cystinuria. ( 28165480 )
2017
5
Stones: Cystinuria - supplement supports solubilization. ( 28248950 )
2017
6
A Novel Mutation in SLC7A9 Gene in Cystinuria. ( 28270646 )
2017
7
Report of SLC3A1/rBAT gene mutations in Iranian cystinuria patients: A direct sequencing study. ( 28461819 )
2017
8
Stones: A novel approach to stone prevention in cystinuria. ( 28239172 )
2017
9
Delineation of cystinuria in Saudi Arabia: A case series. ( 28166740 )
2017
10
Commentary to "Imaging and surgical utilization for pediatric cystinuria patients: A single-institution cohort study". ( 26683112 )
2016
11
Cystinuria in a patient with 19q12q13.1 deletion. ( 28509170 )
2016
12
The Role of Protein Modelling in Predicting the Disease Severity of Cystinuria. ( 26589650 )
2016
13
Novel cystine transporter in renal proximal tubule identified as a missing partner of cystinuria-related plasma membrane protein rBAT/SLC3A1. ( 26739563 )
2016
14
Cystinuria Associated with Different SLC7A9 Gene Variants in the Cat. ( 27404572 )
2016
15
A case of cystinuria presenting with cerebellar ataxia and dementia. ( 26929440 )
2016
16
Re: Imaging and Surgical Utilization for Pediatric Cystinuria Patients: A Single-Institution Cohort Study. ( 27186779 )
2016
17
Case Report: Cystinuria and Polycystic Kidney Disease. ( 27940671 )
2016
18
l-Cystine Diamides as l-Cystine Crystallization Inhibitors for Cystinuria. ( 27409142 )
2016
19
Imaging and surgical utilization for pediatric cystinuria patients: AA single-institution cohort study. ( 26597229 )
2016
20
Infrared vibrational spectroscopy: a rapid and novel diagnostic and monitoring tool for cystinuria. ( 27721432 )
2016
21
A Novel Mutation in SLC3A1 Gene in Patients With Cystinuria. ( 26837681 )
2016
22
Can the Presence of Crystalluria Predict Stone Formation in Patients with Cystinuria? ( 26781171 )
2016
23
Feline cystinuria caused by a missense mutation in the SLC3A1 gene. ( 25417848 )
2015
24
Clinical and genetic analysis of patients with cystinuria in the United Kingdom. ( 25964309 )
2015
25
Urinary stone composition in Oman: with high incidence of cystinuria. ( 25805105 )
2015
26
Mutation analysis of SLC3A1 and SLC7A9 genes in patients with cystinuria. ( 26123750 )
2015
27
Cystinuria in a patient with a novel mutation in SLC7A9 gene. ( 25599739 )
2015
28
Digenic Inheritance in Cystinuria Mouse Model. ( 26359869 )
2015
29
Re: CKD and its Risk Factors among Patients with Cystinuria. ( 26478036 )
2015
30
Cystinuria: current concepts and future directions. ( 25685869 )
2015
31
CKD and Its Risk Factors among Patients with Cystinuria. ( 25717071 )
2015
32
Molecular and Clinical Investigation of Cystinuria in the Greek-Cypriot Population. ( 26540609 )
2015
33
The role of N-glycans and the C-terminal loop of the subunit rBAT in the biogenesis of the cystinuria associated transporter. ( 26537754 )
2015
34
A diagnostic dilemma in a family with cystinuria type B resolved by muscle magnetic resonance. ( 25882082 )
2015
35
Autosomal recessive cystinuria caused by genome-wide paternal uniparental isodisomy in a patient with Beckwith-Wiedemann syndrome. ( 25171146 )
2014
36
A New Workflow for Proteomic Analysis of Urinary Exosomes and Assessment in Cystinuria Patients. ( 25365230 )
2014
37
Novel cystine ester mimics for the treatment of cystinuria-induced urolithiasis in a knockout mouse model. ( 25443947 )
2014
38
An animal model of type A cystinuria due to spontaneous mutation in 129S2/SvPasCrl mice. ( 25048459 )
2014
39
Cystinuria in a Girl Presenting with a Hyperechogenic Colon Detected by Prenatal Ultrasonography and a New SLC3A1 Gene Mutation (p.Phe278Ser). ( 24824759 )
2014
40
Synergistic mutations in SLC3A1 and SLC7A9 leading to heterogeneous cystinuria phenotypes: pitfalls in the diagnostic workup. ( 24045899 )
2014
41
Cystinuria-a urologist's perspective. ( 24662732 )
2014
42
Re: further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria. ( 24522044 )
2014
43
The Genetic Diversity of Cystinuria in a UK Population of Patients. ( 25109415 )
2014
44
Re: Saravakos et al.: Cystinuria: current diagnosis and management (Urology 2013;83:693-699). ( 24680465 )
2014
45
PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome. ( 24610330 )
2014
46
An uncommon cause of acute kidney injury in young children: cystinuria. ( 23099233 )
2013
47
Molecular characterization of cystinuria in south-eastern European countries. ( 23532419 )
2013
48
Words of wisdom: Re: The interaction of thiol drugs and urine pH in the treatment of cystinuria. ( 23915464 )
2013
49
Cystinuria crystals: an image from a 14-year-old girl with cystinuria. ( 23537763 )
2013
50
Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria. ( 23794250 )
2013

Variations for Cystinuria

UniProtKB/Swiss-Prot genetic disease variations for Cystinuria:

66 (show top 50) (show all 83)
id Symbol AA change Variation ID SNP ID
1 SLC3A1 p.Pro128Gln VAR_011420
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
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
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
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
30 SLC3A1 p.Met123Arg VAR_072284
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
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

ClinVar genetic disease variations for Cystinuria:

6 (show all 31)
id Gene Variation Type Significance SNP ID Assembly Location
1 SLC7A9 NM_014270.4(SLC7A9): c.508G> A (p.Val170Met) single nucleotide variant Pathogenic rs121908479 GRCh37 Chromosome 19, 33353463: 33353463
2 SLC7A9 NM_014270.4(SLC7A9): c.313G> A (p.Gly105Arg) single nucleotide variant Pathogenic rs121908480 GRCh37 Chromosome 19, 33355167: 33355167
3 SLC7A9 NM_014270.4(SLC7A9): c.583G> A (p.Gly195Arg) single nucleotide variant Pathogenic rs121908482 GRCh37 Chromosome 19, 33353388: 33353388
4 SLC7A9 NM_014270.4(SLC7A9): c.775G> A (p.Gly259Arg) single nucleotide variant Pathogenic rs121908483 GRCh37 Chromosome 19, 33350845: 33350845
5 SLC7A9 SLC7A9, 2-BP DEL, 596TG deletion Pathogenic
6 SLC7A9 SLC7A9, 1-BP INS, 520T insertion Pathogenic
7 SLC7A9 NM_014270.4(SLC7A9): c.997C> T (p.Arg333Trp) single nucleotide variant Pathogenic rs121908484 GRCh37 Chromosome 19, 33334838: 33334838
8 SLC7A9 NM_014270.4(SLC7A9): c.131T> C (p.Ile44Thr) single nucleotide variant Pathogenic rs121908485 GRCh37 Chromosome 19, 33355639: 33355639
9 SLC7A9 NM_014270.4(SLC7A9): c.782C> T (p.Pro261Leu) single nucleotide variant Pathogenic rs121908486 GRCh37 Chromosome 19, 33350838: 33350838
10 SLC7A9 SLC7A9, 1-BP INS, 799A insertion Pathogenic
11 SLC7A9 NM_014270.4(SLC7A9): c.695A> G (p.Tyr232Cys) single nucleotide variant Pathogenic rs121908487 GRCh37 Chromosome 19, 33353033: 33353033
12 SLC7A9 SLC7A9, 789+2T-C single nucleotide variant Pathogenic
13 SLC7A9 NM_014270.4(SLC7A9): c.368C> T (p.Thr123Met) single nucleotide variant Pathogenic rs79987078 GRCh37 Chromosome 19, 33355112: 33355112
14 SLC7A9 SLC7A9, IVS5AS, C-A, -3 single nucleotide variant Pathogenic
15 SLC3A1 NM_000341.3(SLC3A1): c.1400T> C (p.Met467Thr) single nucleotide variant Pathogenic rs121912691 GRCh37 Chromosome 2, 44539792: 44539792
16 SLC3A1 NM_000341.3(SLC3A1): c.1400T> A (p.Met467Lys) single nucleotide variant Pathogenic rs121912691 GRCh37 Chromosome 2, 44539792: 44539792
17 SLC3A1 NM_000341.3(SLC3A1): c.2033T> C (p.Leu678Pro) single nucleotide variant Pathogenic rs121912693 GRCh37 Chromosome 2, 44547753: 44547753
18 SLC3A1 NM_000341.3(SLC3A1): c.542G> A (p.Arg181Gln) single nucleotide variant Pathogenic rs121912694 GRCh37 Chromosome 2, 44507966: 44507966
19 SLC3A1 NM_000341.3(SLC3A1): c.1955C> G (p.Thr652Arg) single nucleotide variant Pathogenic rs121912695 GRCh37 Chromosome 2, 44547675: 44547675
20 SLC3A1 NM_000341.3(SLC3A1): c.1843C> A (p.Pro615Thr) single nucleotide variant Pathogenic rs121912696 GRCh37 Chromosome 2, 44547563: 44547563
21 SLC3A1 SLC3A1, EX5-9DUP duplication Pathogenic
22 SLC3A1 NM_000341.3(SLC3A1): c.1085G> A (p.Arg362His) single nucleotide variant Pathogenic rs121912697 GRCh37 Chromosome 2, 44528215: 44528215
23 SLC3A1 NM_000341.3(SLC3A1): c.1597T> A (p.Tyr533Asn) single nucleotide variant Pathogenic rs387907276 GRCh37 Chromosome 2, 44541070: 44541070
24 SLC3A1 NM_000341.3(SLC3A1): c.1275_1276dupTG (p.Glu426Valfs) duplication Likely pathogenic rs797044609 GRCh38 Chromosome 2, 44304281: 44304282
25 SLC7A9 NM_001243036.1(SLC7A9): c.1225-4678_1324del deletion Pathogenic GRCh37 Chromosome 19, 33324130: 33328907
26 SLC3A1 NM_000341.3(SLC3A1): c.1500+1G> T single nucleotide variant Pathogenic rs886042834 GRCh37 Chromosome 2, 44539893: 44539893
27 SLC7A9 NM_014270.4(SLC7A9): c.614dupA (p.Asn206Glufs) duplication Pathogenic rs886043827 GRCh37 Chromosome 19, 33353114: 33353114
28 SLC3A1 NM_000341.3(SLC3A1): c.808C> T (p.Arg270Ter) single nucleotide variant Pathogenic rs200483989 GRCh37 Chromosome 2, 44513213: 44513213
29 SLC3A1 NM_000341.3(SLC3A1): c.1354C> T (p.Arg452Trp) single nucleotide variant Likely pathogenic rs201502095 GRCh37 Chromosome 2, 44539746: 44539746
30 SLC3A1 NM_000341.3(SLC3A1): c.1750delA (p.Arg584Glufs) deletion Likely pathogenic rs1057519470 GRCh37 Chromosome 2, 44547470: 44547470
31 SLC7A9 NM_014270.4(SLC7A9): c.749+1G> C single nucleotide variant Likely pathogenic rs1060499787 GRCh38 Chromosome 19, 32860605: 32860605

Copy number variations for Cystinuria from CNVD:

7
id 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 GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.99 SLC1A4 SLC3A1 SLC3A2 SLC6A18 SLC7A10 SLC7A11
2
Show member pathways
12.88 SLC3A2 SLC7A10 SLC7A11 SLC7A7 SLC7A9
3
Show member pathways
12.34 SLC3A1 SLC3A2 SLC7A7 SLC7A9
4
Show member pathways
11.81 SLC3A2 SLC7A10 SLC7A11 SLC7A7 SLC7A9
5 10.97 SLC3A2 SLC7A11
6 10.79 SLC3A2 SLC7A10 SLC7A11 SLC7A7 SLC7A9
7
Show member pathways
10.74 SLC1A4 SLC3A1 SLC3A2 SLC6A18 SLC7A10 SLC7A11

GO Terms for Cystinuria

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

id Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.17 SLC1A4 SLC3A1 SLC6A18 SLC7A10 SLC7A11 SLC7A7
2 brush border membrane GO:0031526 9.13 SLC3A1 SLC6A18 SLC7A9

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

id Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.92 SLC1A4 SLC3A1 SLC3A2 SLC6A18 SLC7A10 SLC7A11
2 leukocyte migration GO:0050900 9.65 SLC3A2 SLC7A10 SLC7A11 SLC7A7 SLC7A9
3 cellular amino acid metabolic process GO:0006520 9.48 SLC3A1 SLC7A7
4 L-alpha-amino acid transmembrane transport GO:1902475 9.46 SLC3A2 SLC7A7
5 neutral amino acid transport GO:0015804 9.43 SLC7A10 SLC7A9
6 L-serine transport GO:0015825 9.4 SLC1A4 SLC7A10
7 basic amino acid transmembrane transport GO:1990822 9.37 SLC3A1 SLC7A7
8 L-cystine transport GO:0015811 9.33 SLC1A4 SLC3A1 SLC7A9
9 amino acid transmembrane transport GO:0003333 9.26 SLC6A18 SLC7A10 SLC7A7 SLC7A9
10 amino acid transport GO:0006865 9.23 SLC1A4 SLC3A1 SLC3A2 SLC6A18 SLC7A10 SLC7A11

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

id Name GO ID Score Top Affiliating Genes
1 antiporter activity GO:0015297 9.43 SLC7A10 SLC7A7 SLC7A9
2 L-serine transmembrane transporter activity GO:0015194 9.37 SLC1A4 SLC7A10
3 L-cystine transmembrane transporter activity GO:0015184 9.33 SLC1A4 SLC3A1 SLC7A9
4 basic amino acid transmembrane transporter activity GO:0015174 9.32 SLC3A1 SLC7A7
5 neutral amino acid transmembrane transporter activity GO:0015175 9.26 SLC1A4 SLC3A2 SLC7A10 SLC7A9
6 amino acid transmembrane transporter activity GO:0015171 9.17 SLC1A4 SLC3A1 SLC6A18 SLC7A10 SLC7A11 SLC7A7

Sources for Cystinuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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