MCID: CYS013
MIFTS: 64

Cystinuria

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

Aliases & Classifications for Cystinuria

MalaCards integrated aliases for Cystinuria:

Name: Cystinuria 53 37 12 72 49 24 55 71 36 28 13 51 41 14 69
Csnu 53 49 24 71
Cystinuria Type B 55 71
Cystinuria Type a 55 71
Cystinuria, Type Iii, Formerly; Csnu3, Formerly 53
Cystinuria, Type I, Formerly; Csnu1, Formerly 53
Cystinuria, Type Non-I, Formerly 53
Cystinuria, Type Iii, Formerly 53
Cystinuria, Type Ii, Formerly 53
Cystinuria-Lysinuria Syndrome 55
Cystinuria, Type I, Formerly 53
Cystinuria Type Non-I 71
Cystinuria-Lysinuria 49
Cystinuria Type a/b 71
Cystinuria Type Iii 71
Cystinuria Type Ii 71
Cystinuria Type I 71
Cystinuria Type 1 69
Csnu1, Formerly 53
Csnu3, Formerly 53
Cystinuria 1 71
Csnu1 71
Csnu3 71

Characteristics:

Orphanet epidemiological data:

55
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:

53
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:



External Ids:

OMIM 53 220100
Disease Ontology 12 DOID:9266
ICD10 32 E72.01
MeSH 41 D003555
NCIt 46 C84664
MESH via Orphanet 42 D003555
UMLS via Orphanet 70 C0010691 C0268646 C1857389 more
ICD10 via Orphanet 33 E72.0
KEGG 36 H00901

Summaries for Cystinuria

NIH Rare Diseases : 49 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 Protein digestion and absorption and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. The drugs Penicillamine and Antidotes have been mentioned in the context of this disorder. Affiliated tissues include Kidney, kidney and testes, and related phenotypes are homeostasis/metabolism and renal/urinary system

OMIM : 53 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 : 71 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.

Genetics Home Reference : 24 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.

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

Wikipedia : 72 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 69)
# Related Disease Score Top Affiliating Genes
1 hypotonia-cystinuria syndrome 33.5 CAMKMT PREPL SLC3A1 SLC7A9
2 2p21 microdeletion syndrome without cystinuria 33.3 CAMKMT PREPL
3 aminoaciduria 29.6 SLC3A1 SLC7A9
4 lysinuric protein intolerance 29.3 SLC3A1 SLC3A2 SLC7A7
5 hartnup disorder 29.3 SLC1A4 SLC6A18
6 gyrate atrophy of choroid and retina 29.1 OAT SLC6A18
7 nephrolithiasis, calcium oxalate 11.3
8 nephrolithiasis 10.1
9 hypotonia 10.1
10 fanconi syndrome 9.9
11 cystinosis 9.9
12 nephrotic syndrome 9.9
13 hyperuricemia 9.9
14 amino acid metabolic disorder 9.9 SLC3A1 SLC7A7 SLC7A9
15 blood group, i system 9.8
16 hypercalciuria, absorptive, 2 9.8
17 rheumatoid arthritis 9.8
18 short-rib thoracic dysplasia 1 with or without polydactyly 9.8
19 cystathioninuria 9.8
20 ataxia and polyneuropathy, adult-onset 9.8
21 arthritis 9.8
22 choroiditis 9.8
23 homocystinuria 9.8
24 beckwith-wiedemann syndrome 9.6
25 protoporphyria, erythropoietic 9.6
26 muckle-wells syndrome 9.6
27 alkaptonuria 9.6
28 diaminopentanuria 9.6
29 hyperlysinemia, type i 9.6
30 pentosuria 9.6
31 phenylketonuria 9.6
32 pyruvate carboxylase deficiency 9.6
33 saccharopinuria 9.6
34 aging 9.6
35 aceruloplasminemia 9.6
36 nephrolithiasis, uric acid 9.6
37 propionic acidemia 9.6
38 ataxia-oculomotor apraxia 3 9.6
39 bardet-biedl syndrome 2 9.6
40 bardet-biedl syndrome 10 9.6
41 bardet-biedl syndrome 11 9.6
42 bardet-biedl syndrome 12 9.6
43 myasthenic syndrome, congenital, 22 9.6
44 leukemia 9.6
45 renal tubular acidosis 9.6
46 spinal muscular atrophy 9.6
47 dermatomyositis 9.6
48 lymphoblastic leukemia 9.6
49 primary hyperparathyroidism 9.6
50 pyelonephritis 9.6

Graphical network of the top 20 diseases related to Cystinuria:



Diseases related to Cystinuria

Symptoms & Phenotypes for Cystinuria

Symptoms via clinical synopsis from OMIM:

53
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

Human phenotypes related to Cystinuria:

55 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of amino acid metabolism 55 31 hallmark (90%) Very frequent (99-80%) HP:0004337
2 renal insufficiency 55 31 frequent (33%) Frequent (79-30%) HP:0000083
3 hyperuricemia 55 31 frequent (33%) Frequent (79-30%) HP:0002149
4 hematuria 55 31 hallmark (90%) Very frequent (99-80%) HP:0000790
5 nephrolithiasis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000787
6 abnormality of the nervous system 31 HP:0000707
7 recurrent urinary tract infections 31 HP:0000010
8 cystinuria 31 HP:0003131
9 ornithinuria 31 HP:0003532
10 argininuria 31 HP:0003268
11 hyperlysinuria 31 HP:0003297

MGI Mouse Phenotypes related to Cystinuria:

43
# 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 SLC6A18 SLC7A7 SLC7A9 CAMKMT OAT SLC3A1

Drugs & Therapeutics for Cystinuria

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

(show all 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Penicillamine Approved Phase 4 52-67-5 4727 5852
2 Antidotes Phase 4
3 Antirheumatic Agents Phase 4,Phase 2
4 Chelating Agents Phase 4
5 Protective Agents Phase 4,Phase 2
6
Sulfamethoxazole Approved Phase 2 723-46-6 5329
7
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
8 Bucillamine Investigational Phase 2 65002-17-7
9 Anti-Infective Agents Phase 2
10 Analgesics Phase 2
11 Analgesics, Non-Narcotic Phase 2
12 Anti-Inflammatory Agents Phase 2
13 Anti-Inflammatory Agents, Non-Steroidal Phase 2
14 Antioxidants Phase 2
15 Peripheral Nervous System Agents Phase 2
16 Micronutrients Phase 2
17 Thioctic Acid Phase 2
18 Trace Elements Phase 2
19 Vitamin B Complex Phase 2
20 Vitamins Phase 2
21 cysteine Nutraceutical Phase 2
22 Alpha-lipoic Acid Nutraceutical Phase 2
23 Folate Nutraceutical Phase 2
24 Vitamin B9 Nutraceutical Phase 2
25
Tolvaptan Approved 150683-30-0 216237
26 Anesthetics
27 Hormones
28 Arginine Vasopressin
29 Natriuretic Agents
30 Vasopressins
31 Noni Nutraceutical

Interventional clinical trials:

(show all 15)

# 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 Unknown status NCT02640443 Phase 2 Sulfamethoxazole
3 Use of an Herbal Preparation to Prevent and Dissolve Kidney Stones Completed NCT00381849 Phase 1, Phase 2 Cystone;Sugar Pill (Placebo)
4 Bucillamine Phase 2 Trial in Patients With Cystinuria Recruiting NCT02942420 Phase 2 Bucillamine
5 Lipoic Acid Supplement for Cystine Stone Recruiting NCT02910531 Phase 2 Placebo
6 PREPL in Health and Disease Unknown status NCT02263781
7 TCUPS- Tolvaptan Use in Cyctinuria and Urolithiasis: A Pilot Study Recruiting NCT02538016 Tolvaptan
8 Rare Kidney Stone Consortium Patient Registry Recruiting NCT00588562
9 Rare Kidney Stone Consortium Biobank Recruiting NCT02026388
10 Prospective Research Rare Kidney Stones (ProRKS) Recruiting NCT02780297
11 Health-related Quality of Life in Rare Kidney Stone Recruiting NCT02124395
12 Randall's Plaque Study: Pathogenesis and Relationship to Nephrolithiasis Recruiting NCT00169806
13 Monogenic Kidney Stone - Genetic Testing Recruiting NCT03305835
14 Cystine Capacity Clinical Study (CysCap) Active, not recruiting NCT02120105
15 Genetic Study of Nephrolithiasis in Gouty Diathesis Terminated NCT00149305

Search NIH Clinical Center for Cystinuria

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Cochrane evidence based reviews: cystinuria

Genetic Tests for Cystinuria

Genetic tests related to Cystinuria:

# Genetic test Affiliating Genes
1 Cystinuria 28 SLC3A1 SLC7A9

Anatomical Context for Cystinuria

MalaCards organs/tissues related to Cystinuria:

38
Kidney, Testes, Colon, Retina, Skin, Spinal Cord, Salivary Gland
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 Potential therapeutic candidate, affected by disease

Publications for Cystinuria

Articles related to Cystinuria:

(show top 50) (show all 567)
# Title Authors Year
1
Re: Stone Growth Patterns and Risk for Surgery among Children Presenting with Hypercalciuria, Hypocitraturia and Cystinuria as Underlying Metabolic Causes of Urolithiasis. ( 29357553 )
2018
2
Clinical Outcomes for Cystinuria Patients with Unilateral Versus Bilateral Cystine Stone Disease. ( 29179563 )
2018
3
Renal Calculi (Cystinuria, Cystine Stones) ( 29262245 )
2017
4
Stones: Cystinuria - supplement supports solubilization. ( 28248950 )
2017
5
A Novel Mutation in SLC7A9 Gene in Cystinuria. ( 28270646 )
2017
6
Genotype and Phenotype Analysis in Pediatric Patients with Cystinuria. ( 28049243 )
2017
7
I+-Lipoic acid treatment prevents cystine urolithiasis in a mouse model of cystinuria. ( 28165480 )
2017
8
Re: Can the Presence of Crystalluria Predict Stone Formation in Patients with Cystinuria? ( 27979524 )
2017
9
Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants. ( 28717662 )
2017
10
Report of SLC3A1/rBAT gene mutations in Iranian cystinuria patients: A direct sequencing study. ( 28461819 )
2017
11
Delineation of cystinuria in Saudi Arabia: A case series. ( 28166740 )
2017
12
Case Study - Case Studies in Cystinuria. ( 29240374 )
2017
13
Spectrum of mutations in cystinuria patients presenting with prenatal hyperechoic colon. ( 28646536 )
2017
14
Stones: A novel approach to stone prevention in cystinuria. ( 28239172 )
2017
15
Medical Nutrition Therapy for Pediatric Kidney Stone Prevention, Part 3: Cystinuria. ( 28411956 )
2017
16
Cystinuria: One Possible Reason for Kidney and Salivary Gland Lithiasis Relationship. ( 29223310 )
2017
17
Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine. ( 28812535 )
2017
18
Stone growth patterns and risk for surgery among children presenting with hypercalciuria, hypocitraturia and cystinuria as underlying metabolic causes of urolithiasis. ( 28865885 )
2017
19
CYSTINURIA: Crystals that Make a Baby Cry. ( 28811699 )
2017
20
Re: I+-Lipoic Acid Treatment Prevents Cystine Urolithiasis in a Mouse Model of Cystinuria. ( 29059768 )
2017
21
PREVALENCE OF CYSTINURIA IN SERVALS ( LEPTAILURUS SERVAL) IN THE UNITED STATES. ( 29297813 )
2017
22
Infrared vibrational spectroscopy: a rapid and novel diagnostic and monitoring tool for cystinuria. ( 27721432 )
2016
23
A Novel Mutation in SLC3A1 Gene in Patients With Cystinuria. ( 26837681 )
2016
24
Re: Imaging and Surgical Utilization for Pediatric Cystinuria Patients: A Single-Institution Cohort Study. ( 27186779 )
2016
25
Cystinuria in a patient with 19q12q13.1 deletion. ( 28509170 )
2016
26
Case Report: Cystinuria and Polycystic Kidney Disease. ( 27940671 )
2016
27
Imaging and surgical utilization for pediatric cystinuria patients: AA single-institution cohort study. ( 26597229 )
2016
28
A case of cystinuria presenting with cerebellar ataxia and dementia. ( 26929440 )
2016
29
Commentary to "Imaging and surgical utilization for pediatric cystinuria patients: A single-institution cohort study". ( 26683112 )
2016
30
l-Cystine Diamides as l-Cystine Crystallization Inhibitors for Cystinuria. ( 27409142 )
2016
31
Novel cystine transporter in renal proximal tubule identified as a missing partner of cystinuria-related plasma membrane protein rBAT/SLC3A1. ( 26739563 )
2016
32
Cystinuria Associated with Different SLC7A9 Gene Variants in the Cat. ( 27404572 )
2016
33
The Role of Protein Modelling in Predicting the Disease Severity of Cystinuria. ( 26589650 )
2016
34
Can the Presence of Crystalluria Predict Stone Formation in Patients with Cystinuria? ( 26781171 )
2016
35
Cystinuria: current concepts and future directions. ( 25685869 )
2015
36
The role of N-glycans and the C-terminal loop of the subunit rBAT in the biogenesis of the cystinuria associated transporter. ( 26537754 )
2015
37
Digenic Inheritance in Cystinuria Mouse Model. ( 26359869 )
2015
38
Molecular and Clinical Investigation of Cystinuria in the Greek-Cypriot Population. ( 26540609 )
2015
39
A diagnostic dilemma in a family with cystinuria type B resolved by muscle magnetic resonance. ( 25882082 )
2015
40
Feline cystinuria caused by a missense mutation in the SLC3A1 gene. ( 25417848 )
2015
41
CKD and Its Risk Factors among Patients with Cystinuria. ( 25717071 )
2015
42
Clinical and genetic analysis of patients with cystinuria in the United Kingdom. ( 25964309 )
2015
43
Urinary stone composition in Oman: with high incidence of cystinuria. ( 25805105 )
2015
44
Re: CKD and its Risk Factors among Patients with Cystinuria. ( 26478036 )
2015
45
Cystinuria in a patient with a novel mutation in SLC7A9 gene. ( 25599739 )
2015
46
Mutation analysis of SLC3A1 and SLC7A9 genes in patients with cystinuria. ( 26123750 )
2015
47
Re: further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria. ( 24522044 )
2014
48
Autosomal recessive cystinuria caused by genome-wide paternal uniparental isodisomy in a patient with Beckwith-Wiedemann syndrome. ( 25171146 )
2014
49
Novel cystine ester mimics for the treatment of cystinuria-induced urolithiasis in a knockout mouse model. ( 25443947 )
2014
50
Cystinuria in a Girl Presenting with a Hyperechogenic Colon Detected by Prenatal Ultrasonography and a New SLC3A1 Gene Mutation (p.Phe278Ser). ( 24824759 )
2014

Variations for Cystinuria

UniProtKB/Swiss-Prot genetic disease variations for Cystinuria:

71 (show top 50) (show all 83)
# 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 rs1032513393Cystinuria
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 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

ClinVar genetic disease variations for Cystinuria:

6 (show all 34)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC3A1 NM_000341.3(SLC3A1): c.1400T> C (p.Met467Thr) single nucleotide variant Pathogenic rs121912691 GRCh37 Chromosome 2, 44539792: 44539792
2 SLC3A1 NM_000341.3(SLC3A1): c.1400T> A (p.Met467Lys) single nucleotide variant Pathogenic rs121912691 GRCh37 Chromosome 2, 44539792: 44539792
3 SLC3A1 NM_000341.3(SLC3A1): c.2033T> C (p.Leu678Pro) single nucleotide variant Pathogenic rs121912693 GRCh37 Chromosome 2, 44547753: 44547753
4 SLC3A1 NM_000341.3(SLC3A1): c.542G> A (p.Arg181Gln) single nucleotide variant Pathogenic rs121912694 GRCh37 Chromosome 2, 44507966: 44507966
5 SLC3A1 NM_000341.3(SLC3A1): c.1955C> G (p.Thr652Arg) single nucleotide variant Pathogenic rs121912695 GRCh37 Chromosome 2, 44547675: 44547675
6 SLC3A1 NM_000341.3(SLC3A1): c.1843C> A (p.Pro615Thr) single nucleotide variant Pathogenic rs121912696 GRCh37 Chromosome 2, 44547563: 44547563
7 SLC3A1 SLC3A1, EX5-9DUP duplication Pathogenic
8 SLC3A1 NM_000341.3(SLC3A1): c.1085G> A (p.Arg362His) single nucleotide variant Pathogenic rs121912697 GRCh37 Chromosome 2, 44528215: 44528215
9 SLC3A1 NM_000341.3(SLC3A1): c.1597T> A (p.Tyr533Asn) single nucleotide variant Pathogenic rs387907276 GRCh37 Chromosome 2, 44541070: 44541070
10 SLC7A9 NM_014270.4(SLC7A9): c.508G> A (p.Val170Met) single nucleotide variant Pathogenic rs121908479 GRCh37 Chromosome 19, 33353463: 33353463
11 SLC7A9 NM_014270.4(SLC7A9): c.313G> A (p.Gly105Arg) single nucleotide variant Pathogenic rs121908480 GRCh37 Chromosome 19, 33355167: 33355167
12 SLC7A9 NM_014270.4(SLC7A9): c.544G> A (p.Ala182Thr) single nucleotide variant Pathogenic/Likely pathogenic rs79389353 GRCh37 Chromosome 19, 33353427: 33353427
13 SLC7A9 SLC7A9, IVS5AS, C-A, -3 single nucleotide variant Pathogenic
14 SLC7A9 NM_014270.4(SLC7A9): c.583G> A (p.Gly195Arg) single nucleotide variant Pathogenic rs121908482 GRCh37 Chromosome 19, 33353388: 33353388
15 SLC7A9 NM_014270.4(SLC7A9): c.775G> A (p.Gly259Arg) single nucleotide variant Pathogenic rs121908483 GRCh37 Chromosome 19, 33350845: 33350845
16 SLC7A9 SLC7A9, 2-BP DEL, 596TG deletion Pathogenic
17 SLC7A9 SLC7A9, 1-BP INS, 520T insertion Pathogenic
18 SLC7A9 NM_014270.4(SLC7A9): c.997C> T (p.Arg333Trp) single nucleotide variant Pathogenic rs121908484 GRCh37 Chromosome 19, 33334838: 33334838
19 SLC7A9 NM_014270.4(SLC7A9): c.131T> C (p.Ile44Thr) single nucleotide variant Pathogenic rs121908485 GRCh37 Chromosome 19, 33355639: 33355639
20 SLC7A9 NM_014270.4(SLC7A9): c.782C> T (p.Pro261Leu) single nucleotide variant Pathogenic rs121908486 GRCh37 Chromosome 19, 33350838: 33350838
21 SLC7A9 SLC7A9, 1-BP INS, 799A insertion Pathogenic
22 SLC7A9 NM_014270.4(SLC7A9): c.695A> G (p.Tyr232Cys) single nucleotide variant Pathogenic rs121908487 GRCh37 Chromosome 19, 33353033: 33353033
23 SLC7A9 SLC7A9, 789+2T-C single nucleotide variant Pathogenic
24 SLC7A9 NM_014270.4(SLC7A9): c.368C> T (p.Thr123Met) single nucleotide variant Pathogenic rs79987078 GRCh37 Chromosome 19, 33355112: 33355112
25 SLC3A1 NM_000341.3(SLC3A1): c.1275_1276dupTG (p.Glu426Valfs) duplication Likely pathogenic rs797044609 GRCh38 Chromosome 2, 44304281: 44304282
26 SLC7A9 NM_001126335.1(SLC7A9): c.88-2A> G single nucleotide variant Likely pathogenic rs1085307095 GRCh38 Chromosome 19, 32864778: 32864778
27 SLC7A9 NM_001243036.1(SLC7A9): c.1225-4678_1324del deletion Pathogenic GRCh37 Chromosome 19, 33324130: 33328907
28 SLC3A1 NM_000341.3(SLC3A1): c.1500+1G> T single nucleotide variant Pathogenic rs886042834 GRCh37 Chromosome 2, 44539893: 44539893
29 SLC7A9 NM_014270.4(SLC7A9): c.614dupA (p.Asn206Glufs) duplication Pathogenic rs745319034 GRCh37 Chromosome 19, 33353114: 33353114
30 SLC3A1 NM_000341.3(SLC3A1): c.808C> T (p.Arg270Ter) single nucleotide variant Pathogenic rs200483989 GRCh37 Chromosome 2, 44513213: 44513213
31 SLC3A1 NM_000341.3(SLC3A1): c.1354C> T (p.Arg452Trp) single nucleotide variant Likely pathogenic rs201502095 GRCh37 Chromosome 2, 44539746: 44539746
32 SLC3A1 NM_000341.3(SLC3A1): c.1750delA (p.Arg584Glufs) deletion Likely pathogenic rs1057519470 GRCh37 Chromosome 2, 44547470: 44547470
33 SLC7A9 NM_014270.4(SLC7A9): c.749+1G> C single nucleotide variant Likely pathogenic rs1060499787 GRCh38 Chromosome 19, 32860605: 32860605
34 SLC3A1 NM_000341.3(SLC3A1): c.1069_1084dup (p.Arg362Hisfs) duplication Pathogenic rs1135402757 GRCh37 Chromosome 2, 44528199: 44528214

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:

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
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:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.81 CEP89 SLC1A4 SLC3A1 SLC3A2 SLC6A18 SLC7A10
2 integral component of plasma membrane GO:0005887 9.17 SLC1A4 SLC3A1 SLC6A18 SLC7A10 SLC7A11 SLC7A7
3 brush border membrane GO:0031526 9.13 SLC3A1 SLC6A18 SLC7A9

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

# 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 neutral amino acid transport GO:0015804 9.46 SLC7A10 SLC7A9
5 L-alpha-amino acid transmembrane transport GO:1902475 9.43 SLC3A2 SLC7A7
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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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