MCID: CYS013
MIFTS: 63

Cystinuria

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

Aliases & Classifications for Cystinuria

MalaCards integrated aliases for Cystinuria:

Name: Cystinuria 57 38 12 76 53 25 59 75 37 29 13 55 6 44 15 40 73
Csnu 57 53 25 75
Cystinuria Type B 59 75
Cystinuria Type a 59 75
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 75
Cystinuria-Lysinuria 53
Cystinuria Type a/b 75
Cystinuria Type Iii 75
Cystinuria Type Ii 75
Cystinuria Type I 75
Cystinuria Type 1 73
Csnu1, Formerly 57
Csnu3, Formerly 57
Cystinuria 1 75
Csnu1 75
Csnu3 75

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:

OMIM 57 220100
Disease Ontology 12 DOID:9266
ICD10 33 E72.01
MeSH 44 D003555
NCIt 50 C84664
ICD10 via Orphanet 34 E72.0
MESH via Orphanet 45 D003555
UMLS via Orphanet 74 C0010691 C0268646 C1857389 more
KEGG 37 H00901

Summaries for Cystinuria

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.

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 SLC7A9 (Solute Carrier Family 7 Member 9), 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 renal insufficiency and nephrolithiasis

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 : 75 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 : 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.

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

Wikipedia : 76 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 68)
# Related Disease Score Top Affiliating Genes
1 2p21 microdeletion syndrome without cystinuria 33.5 CAMKMT PREPL
2 hypotonia-cystinuria syndrome 33.4 CAMKMT PREPL SLC3A1 SLC7A9
3 aminoaciduria 29.6 SLC3A1 SLC7A9
4 lysinuric protein intolerance 29.2 SLC3A1 SLC3A2 SLC7A7
5 hartnup disorder 29.1 SLC1A4 SLC6A18
6 gyrate atrophy of choroid and retina 28.6 OAT SLC6A18
7 nephrolithiasis, calcium oxalate 11.3
8 type i 10.3
9 hypotonia 10.1
10 nephrolithiasis 10.1
11 fanconi syndrome 9.9
12 cystinosis 9.9
13 nephrotic syndrome 9.9
14 hyperuricemia 9.9
15 amino acid metabolic disorder 9.9 SLC3A1 SLC7A7 SLC7A9
16 rheumatoid arthritis 9.8
17 short-rib thoracic dysplasia 1 with or without polydactyly 9.8
18 cystathioninuria 9.8
19 arthritis 9.8
20 choroiditis 9.8
21 homocystinuria 9.8
22 beckwith-wiedemann syndrome 9.6
23 protoporphyria, erythropoietic 9.6
24 muckle-wells syndrome 9.6
25 alkaptonuria 9.6
26 pentosuria 9.6
27 phenylketonuria 9.6
28 pyruvate carboxylase deficiency 9.6
29 saccharopinuria 9.6
30 aging 9.6
31 aceruloplasminemia 9.6
32 nephrolithiasis, uric acid 9.6
33 propionic acidemia 9.6
34 leukemia, acute lymphoblastic 9.6
35 ataxia-oculomotor apraxia 3 9.6
36 bardet-biedl syndrome 2 9.6
37 bardet-biedl syndrome 10 9.6
38 bardet-biedl syndrome 11 9.6
39 bardet-biedl syndrome 12 9.6
40 myasthenic syndrome, congenital, 22 9.6
41 leukemia 9.6
42 renal tubular acidosis 9.6
43 spinal muscular atrophy 9.6
44 dermatomyositis 9.6
45 lymphoblastic leukemia 9.6
46 primary hyperparathyroidism 9.6
47 pyelonephritis 9.6
48 xanthogranulomatous pyelonephritis 9.6
49 dementia 9.6
50 hyperparathyroidism 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:

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

Human phenotypes related to Cystinuria:

59 32 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0000083
2 nephrolithiasis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000787
3 hematuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0000790
4 hyperuricemia 59 32 frequent (33%) Frequent (79-30%) HP:0002149
5 abnormality of amino acid metabolism 59 32 hallmark (90%) Very frequent (99-80%) HP:0004337
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

MGI Mouse Phenotypes related to Cystinuria:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.61 SLC7A10 SLC7A11 SLC7A7 SLC7A9 CAMKMT OAT
2 renal/urinary system MP:0005367 9.1 CAMKMT OAT SLC3A1 SLC6A18 SLC7A7 SLC7A9

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 5852 4727
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 Not Applicable 150683-30-0 216237
26 Anesthetics Not Applicable
27 Hormones Not Applicable
28 Arginine Vasopressin Not Applicable
29 Natriuretic Agents Not Applicable
30 Vasopressins Not Applicable
31 Noni Nutraceutical

Interventional clinical trials:

(show all 16)
# 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 Not Applicable
7 Cystine Capacity Clinical Study (CysCap) Completed NCT02120105
8 TCUPS- Tolvaptan Use in Cyctinuria and Urolithiasis: A Pilot Study Recruiting NCT02538016 Not Applicable Tolvaptan
9 This Study Evaluates the Superiority of Daily Self-pH Monitorization of Lit-control®pH Meter Compared to the Monitorization of Reactive Strips (Standard of Care). Recruiting NCT03539926 Not Applicable
10 Rare Kidney Stone Consortium Patient Registry Recruiting NCT00588562
11 Rare Kidney Stone Consortium Biobank Recruiting NCT02026388
12 Prospective Research Rare Kidney Stones (ProRKS) Recruiting NCT02780297
13 Health-related Quality of Life in Rare Kidney Stone Recruiting NCT02124395
14 Randall's Plaque Study: Pathogenesis and Relationship to Nephrolithiasis Recruiting NCT00169806 Not Applicable
15 Monogenic Kidney Stone - Genetic Testing Recruiting NCT03305835
16 Genetic Study of Nephrolithiasis in Gouty Diathesis Terminated NCT00149305

Search NIH Clinical Center for Cystinuria

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: cystinuria

Genetic Tests for Cystinuria

Genetic tests related to Cystinuria:

# Genetic test Affiliating Genes
1 Cystinuria 29 SLC3A1 SLC7A9

Anatomical Context for Cystinuria

MalaCards organs/tissues related to Cystinuria:

41
Kidney, Testes, Colon, Retina, Skin, Breast, 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 576)
# Title Authors Year
1
First cardiac manifestation of hypotonia-cystinuria syndrome. ( 29627929 )
2018
2
Causality between myopathic hypotonia-cystinuria syndrome (HCS) and noncompaction (LVHT) is not compelling. ( 29936637 )
2018
3
Clinical Outcomes for Cystinuria Patients with Unilateral Versus Bilateral Cystine Stone Disease. ( 29179563 )
2018
4
Re: Stone Growth Patterns and Risk for Surgery among Children Presenting with Hypercalciuria, Hypocitraturia and Cystinuria as Underlying Metabolic Causes of Urolithiasis. ( 29357553 )
2018
5
A Dynamic Chemical Network for Cystinuria Diagnosis. ( 29645320 )
2018
6
Cystinuria in a 13-month-old Girl with Absence of Mutations in the SLC3A1 and SLC7A9 Genes. ( 29515311 )
2018
7
Design, synthesis, and evaluation of l-cystine diamides as l-cystine crystallization inhibitors for cystinuria. ( 29571572 )
2018
8
The impact of surgical intervention on renal function in cystinuria. ( 29958305 )
2018
9
Re: Associating Mutations Causing Cystinuria with Disease Severity with the Aim of Providing Precision Medicine. ( 29642350 )
2018
10
Re: I+-Lipoic Acid Treatment Prevents Cystine Urolithiasis in a Mouse Model of Cystinuria. ( 29059768 )
2017
11
Renal Calculi (Cystinuria, Cystine Stones) ( 29262245 )
2017
12
I+-Lipoic acid treatment prevents cystine urolithiasis in a mouse model of cystinuria. ( 28165480 )
2017
13
Case Study - Case Studies in Cystinuria. ( 29240374 )
2017
14
Re: Can the Presence of Crystalluria Predict Stone Formation in Patients with Cystinuria? ( 27979524 )
2017
15
Spectrum of mutations in cystinuria patients presenting with prenatal hyperechoic colon. ( 28646536 )
2017
16
A Novel Mutation in SLC7A9 Gene in Cystinuria. ( 28270646 )
2017
17
Genotype and Phenotype Analysis in Pediatric Patients with Cystinuria. ( 28049243 )
2017
18
Stones: A novel approach to stone prevention in cystinuria. ( 28239172 )
2017
19
Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine. ( 28812535 )
2017
20
Medical Nutrition Therapy for Pediatric Kidney Stone Prevention, Part 3: Cystinuria. ( 28411956 )
2017
21
PREVALENCE OF CYSTINURIA IN SERVALS ( LEPTAILURUS SERVAL) IN THE UNITED STATES. ( 29297813 )
2017
22
Stones: Cystinuria - supplement supports solubilization. ( 28248950 )
2017
23
Delineation of cystinuria in Saudi Arabia: A case series. ( 28166740 )
2017
24
CYSTINURIA: Crystals that Make a Baby Cry. ( 28811699 )
2017
25
Stone growth patterns and risk for surgery among children presenting with hypercalciuria, hypocitraturia and cystinuria as underlying metabolic causes of urolithiasis. ( 28865885 )
2017
26
Cystinuria: One Possible Reason for Kidney and Salivary Gland Lithiasis Relationship. ( 29223310 )
2017
27
Report of SLC3A1/rBAT gene mutations in Iranian cystinuria patients: A direct sequencing study. ( 28461819 )
2017
28
Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants. ( 28717662 )
2017
29
The Role of Protein Modelling in Predicting the Disease Severity of Cystinuria. ( 26589650 )
2016
30
Cystinuria Associated with Different SLC7A9 Gene Variants in the Cat. ( 27404572 )
2016
31
Infrared vibrational spectroscopy: a rapid and novel diagnostic and monitoring tool for cystinuria. ( 27721432 )
2016
32
l-Cystine Diamides as l-Cystine Crystallization Inhibitors for Cystinuria. ( 27409142 )
2016
33
Can the Presence of Crystalluria Predict Stone Formation in Patients with Cystinuria? ( 26781171 )
2016
34
Imaging and surgical utilization for pediatric cystinuria patients: AA single-institution cohort study. ( 26597229 )
2016
35
Commentary to "Imaging and surgical utilization for pediatric cystinuria patients: A single-institution cohort study". ( 26683112 )
2016
36
Cystinuria in a patient with 19q12q13.1 deletion. ( 28509170 )
2016
37
Novel cystine transporter in renal proximal tubule identified as a missing partner of cystinuria-related plasma membrane protein rBAT/SLC3A1. ( 26739563 )
2016
38
A Novel Mutation in SLC3A1 Gene in Patients With Cystinuria. ( 26837681 )
2016
39
Re: Imaging and Surgical Utilization for Pediatric Cystinuria Patients: A Single-Institution Cohort Study. ( 27186779 )
2016
40
Case Report: Cystinuria and Polycystic Kidney Disease. ( 27940671 )
2016
41
A case of cystinuria presenting with cerebellar ataxia and dementia. ( 26929440 )
2016
42
Urinary stone composition in Oman: with high incidence of cystinuria. ( 25805105 )
2015
43
Feline cystinuria caused by a missense mutation in the SLC3A1 gene. ( 25417848 )
2015
44
Mutation analysis of SLC3A1 and SLC7A9 genes in patients with cystinuria. ( 26123750 )
2015
45
A diagnostic dilemma in a family with cystinuria type B resolved by muscle magnetic resonance. ( 25882082 )
2015
46
Re: CKD and its Risk Factors among Patients with Cystinuria. ( 26478036 )
2015
47
Molecular and Clinical Investigation of Cystinuria in the Greek-Cypriot Population. ( 26540609 )
2015
48
Cystinuria in a patient with a novel mutation in SLC7A9 gene. ( 25599739 )
2015
49
Cystinuria: current concepts and future directions. ( 25685869 )
2015
50
Clinical and genetic analysis of patients with cystinuria in the United Kingdom. ( 25964309 )
2015

Variations for Cystinuria

UniProtKB/Swiss-Prot genetic disease variations for Cystinuria:

75 (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 top 50) (show all 212)
# 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.508G> A (p.Val170Met) single nucleotide variant Pathogenic rs121908479 GRCh38 Chromosome 19, 32862557: 32862557
3 SLC7A9 NM_014270.4(SLC7A9): c.313G> A (p.Gly105Arg) single nucleotide variant Pathogenic rs121908480 GRCh37 Chromosome 19, 33355167: 33355167
4 SLC7A9 NM_014270.4(SLC7A9): c.313G> A (p.Gly105Arg) single nucleotide variant Pathogenic rs121908480 GRCh38 Chromosome 19, 32864261: 32864261
5 SLC7A9 NM_014270.4(SLC7A9): c.544G> A (p.Ala182Thr) single nucleotide variant Pathogenic/Likely pathogenic rs79389353 GRCh37 Chromosome 19, 33353427: 33353427
6 SLC7A9 NM_014270.4(SLC7A9): c.544G> A (p.Ala182Thr) single nucleotide variant Pathogenic/Likely pathogenic rs79389353 GRCh38 Chromosome 19, 32862521: 32862521
7 SLC7A9 NM_014270.4(SLC7A9): c.583G> A (p.Gly195Arg) single nucleotide variant Pathogenic rs121908482 GRCh37 Chromosome 19, 33353388: 33353388
8 SLC7A9 NM_014270.4(SLC7A9): c.583G> A (p.Gly195Arg) single nucleotide variant Pathogenic rs121908482 GRCh38 Chromosome 19, 32862482: 32862482
9 SLC7A9 NM_014270.4(SLC7A9): c.775G> A (p.Gly259Arg) single nucleotide variant Pathogenic rs121908483 GRCh37 Chromosome 19, 33350845: 33350845
10 SLC7A9 NM_014270.4(SLC7A9): c.775G> A (p.Gly259Arg) single nucleotide variant Pathogenic rs121908483 GRCh38 Chromosome 19, 32859939: 32859939
11 SLC7A9 SLC7A9, 2-BP DEL, 596TG deletion Pathogenic
12 SLC7A9 SLC7A9, 1-BP INS, 520T insertion Pathogenic
13 SLC7A9 NM_014270.4(SLC7A9): c.997C> T (p.Arg333Trp) single nucleotide variant Pathogenic rs121908484 GRCh37 Chromosome 19, 33334838: 33334838
14 SLC7A9 NM_014270.4(SLC7A9): c.997C> T (p.Arg333Trp) single nucleotide variant Pathogenic rs121908484 GRCh38 Chromosome 19, 32843932: 32843932
15 SLC7A9 NM_014270.4(SLC7A9): c.131T> C (p.Ile44Thr) single nucleotide variant Pathogenic rs121908485 GRCh37 Chromosome 19, 33355639: 33355639
16 SLC7A9 NM_014270.4(SLC7A9): c.131T> C (p.Ile44Thr) single nucleotide variant Pathogenic rs121908485 GRCh38 Chromosome 19, 32864733: 32864733
17 SLC7A9 NM_014270.4(SLC7A9): c.782C> T (p.Pro261Leu) single nucleotide variant Pathogenic rs121908486 GRCh37 Chromosome 19, 33350838: 33350838
18 SLC7A9 NM_014270.4(SLC7A9): c.782C> T (p.Pro261Leu) single nucleotide variant Pathogenic rs121908486 GRCh38 Chromosome 19, 32859932: 32859932
19 SLC7A9 SLC7A9, 1-BP INS, 799A insertion Pathogenic
20 SLC7A9 NM_014270.4(SLC7A9): c.695A> G (p.Tyr232Cys) single nucleotide variant Pathogenic rs121908487 GRCh37 Chromosome 19, 33353033: 33353033
21 SLC7A9 NM_014270.4(SLC7A9): c.695A> G (p.Tyr232Cys) single nucleotide variant Pathogenic rs121908487 GRCh38 Chromosome 19, 32862127: 32862127
22 SLC7A9 SLC7A9, 789+2T-C single nucleotide variant Pathogenic
23 SLC7A9 NM_014270.4(SLC7A9): c.368C> T (p.Thr123Met) single nucleotide variant Pathogenic rs79987078 GRCh37 Chromosome 19, 33355112: 33355112
24 SLC7A9 NM_014270.4(SLC7A9): c.368C> T (p.Thr123Met) single nucleotide variant Pathogenic rs79987078 GRCh38 Chromosome 19, 32864206: 32864206
25 SLC7A9 SLC7A9, IVS5AS, C-A, -3 single nucleotide variant Pathogenic
26 SLC3A1 NM_000341.3(SLC3A1): c.1400T> C (p.Met467Thr) single nucleotide variant Pathogenic rs121912691 GRCh37 Chromosome 2, 44539792: 44539792
27 SLC3A1 NM_000341.3(SLC3A1): c.1400T> C (p.Met467Thr) single nucleotide variant Pathogenic rs121912691 GRCh38 Chromosome 2, 44312653: 44312653
28 SLC3A1 NM_000341.3(SLC3A1): c.1400T> A (p.Met467Lys) single nucleotide variant Pathogenic rs121912691 GRCh37 Chromosome 2, 44539792: 44539792
29 SLC3A1 NM_000341.3(SLC3A1): c.1400T> A (p.Met467Lys) single nucleotide variant Pathogenic rs121912691 GRCh38 Chromosome 2, 44312653: 44312653
30 SLC3A1 NM_000341.3(SLC3A1): c.2033T> C (p.Leu678Pro) single nucleotide variant Pathogenic rs121912693 GRCh37 Chromosome 2, 44547753: 44547753
31 SLC3A1 NM_000341.3(SLC3A1): c.2033T> C (p.Leu678Pro) single nucleotide variant Pathogenic rs121912693 GRCh38 Chromosome 2, 44320614: 44320614
32 SLC3A1 NM_000341.3(SLC3A1): c.542G> A (p.Arg181Gln) single nucleotide variant Pathogenic rs121912694 GRCh37 Chromosome 2, 44507966: 44507966
33 SLC3A1 NM_000341.3(SLC3A1): c.542G> A (p.Arg181Gln) single nucleotide variant Pathogenic rs121912694 GRCh38 Chromosome 2, 44280827: 44280827
34 SLC3A1 NM_000341.3(SLC3A1): c.1955C> G (p.Thr652Arg) single nucleotide variant Pathogenic rs121912695 GRCh37 Chromosome 2, 44547675: 44547675
35 SLC3A1 NM_000341.3(SLC3A1): c.1955C> G (p.Thr652Arg) single nucleotide variant Pathogenic rs121912695 GRCh38 Chromosome 2, 44320536: 44320536
36 SLC3A1 NM_000341.3(SLC3A1): c.1843C> A (p.Pro615Thr) single nucleotide variant Pathogenic rs121912696 GRCh37 Chromosome 2, 44547563: 44547563
37 SLC3A1 NM_000341.3(SLC3A1): c.1843C> A (p.Pro615Thr) single nucleotide variant Pathogenic rs121912696 GRCh38 Chromosome 2, 44320424: 44320424
38 SLC3A1 SLC3A1, EX5-9DUP duplication Pathogenic
39 SLC3A1 NM_000341.3(SLC3A1): c.1085G> A (p.Arg362His) single nucleotide variant Pathogenic rs121912697 GRCh37 Chromosome 2, 44528215: 44528215
40 SLC3A1 NM_000341.3(SLC3A1): c.1085G> A (p.Arg362His) single nucleotide variant Pathogenic rs121912697 GRCh38 Chromosome 2, 44301076: 44301076
41 SLC3A1 NM_000341.3(SLC3A1): c.1597T> A (p.Tyr533Asn) single nucleotide variant Pathogenic rs387907276 GRCh37 Chromosome 2, 44541070: 44541070
42 SLC3A1 NM_000341.3(SLC3A1): c.1597T> A (p.Tyr533Asn) single nucleotide variant Pathogenic rs387907276 GRCh38 Chromosome 2, 44313931: 44313931
43 SLC7A9 NM_001126335.1(SLC7A9): c.988G> A (p.Val330Met) single nucleotide variant Uncertain significance rs201618022 GRCh37 Chromosome 19, 33334847: 33334847
44 SLC7A9 NM_001126335.1(SLC7A9): c.988G> A (p.Val330Met) single nucleotide variant Uncertain significance rs201618022 GRCh38 Chromosome 19, 32843941: 32843941
45 SLC7A9 NM_014270.4(SLC7A9): c.1399+4_1399+7delAGTA deletion Uncertain significance rs747593886 GRCh37 Chromosome 19, 33324048: 33324051
46 SLC7A9 NM_014270.4(SLC7A9): c.1399+4_1399+7delAGTA deletion Uncertain significance rs747593886 GRCh38 Chromosome 19, 32833142: 32833145
47 SLC3A1 NM_000341.3(SLC3A1): c.1275_1276dupTG (p.Glu426Valfs) duplication Likely pathogenic rs797044609 GRCh38 Chromosome 2, 44304281: 44304282
48 SLC3A1 NM_000341.3(SLC3A1): c.1275_1276dupTG (p.Glu426Valfs) duplication Likely pathogenic rs797044609 GRCh37 Chromosome 2, 44531420: 44531421
49 SLC3A1 NM_000341.3(SLC3A1): c.1334T> C (p.Ile445Thr) single nucleotide variant Uncertain significance rs187962930 GRCh37 Chromosome 2, 44539726: 44539726
50 SLC3A1 NM_000341.3(SLC3A1): c.1334T> C (p.Ile445Thr) single nucleotide variant Uncertain significance rs187962930 GRCh38 Chromosome 2, 44312587: 44312587

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
12.99 SLC1A4 SLC3A1 SLC3A2 SLC6A18 SLC7A10 SLC7A11
2
Show member pathways
12.84 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 11.01 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 transmembrane transport GO:0055085 9.8 SLC1A4 SLC7A10 SLC7A11 SLC7A7 SLC7A9
2 leukocyte migration GO:0050900 9.65 SLC3A2 SLC7A10 SLC7A11 SLC7A7 SLC7A9
3 neutral amino acid transport GO:0015804 9.5 SLC6A18 SLC7A10 SLC7A9
4 cellular amino acid metabolic process GO:0006520 9.48 SLC3A1 SLC7A7
5 L-alpha-amino acid transmembrane transport GO:1902475 9.46 SLC3A2 SLC7A7
6 L-serine transport GO:0015825 9.43 SLC1A4 SLC7A10
7 basic amino acid transmembrane transport GO:1990822 9.37 SLC3A1 SLC7A7
8 amino acid transmembrane transport GO:0003333 9.35 SLC6A18 SLC7A10 SLC7A11 SLC7A7 SLC7A9
9 L-cystine transport GO:0015811 9.33 SLC1A4 SLC3A1 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 transmembrane transporter activity GO:0022857 9.62 SLC7A10 SLC7A11 SLC7A7 SLC7A9
2 amino acid transmembrane transporter activity GO:0015171 9.56 SLC1A4 SLC3A1 SLC6A18 SLC7A9
3 antiporter activity GO:0015297 9.54 SLC7A10 SLC7A7 SLC7A9
4 L-serine transmembrane transporter activity GO:0015194 9.43 SLC1A4 SLC7A10
5 basic amino acid transmembrane transporter activity GO:0015174 9.4 SLC3A1 SLC7A7
6 L-cystine transmembrane transporter activity GO:0015184 9.33 SLC1A4 SLC3A1 SLC7A9
7 L-amino acid transmembrane transporter activity GO:0015179 9.26 SLC7A10 SLC7A11 SLC7A7 SLC7A9
8 neutral amino acid transmembrane transporter activity GO:0015175 9.02 SLC1A4 SLC3A2 SLC6A18 SLC7A10 SLC7A9

Sources for Cystinuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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