MCID: CYS013
MIFTS: 63

Cystinuria malady

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

Aliases & Classifications for Cystinuria

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 35LifeMap Discovery®, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Cystinuria:

Name: Cystinuria 52 35 11 48 24 25 54 70 27 12 50 39 13 68
Csnu 48 25 70
Cystinuria Type a 54 70
Cystinuria Type B 54 70
Csnu1 24 70
Csnu3 24 70
Cystinuria-Lysinuria Syndrome 54
Cystinuria Type Non-I 70
Cystinuria-Lysinuria 48
 
Cystinuria, Type Iii 24
Cystinuria, Type Ii 24
Cystinuria Type a/b 70
Cystinuria Type Iii 70
Cystinuria Type Ii 70
Cystinuria, Type I 24
Cystinuria Type I 70
Cystinuria Type 1 68
Cystinuria 1 70

Characteristics:

Orphanet epidemiological data:

54
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:

64

Classifications:



External Ids:

OMIM52 220100
Disease Ontology11 DOID:9266
ICD1030 E72.01
MeSH39 D003555
NCIt45 C84664
ICD10 via Orphanet31 E72.0
MESH via Orphanet40 D003555
UMLS via Orphanet69 C0010691, C0268646

Summaries for Cystinuria

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NIH Rare Diseases:48 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 nephrolithiasis, hematuria and renal insufficiency. An important gene associated with Cystinuria is SLC7A9 (Solute Carrier Family 7 Member 9), and among its related pathways are Protein digestion and absorption and Cell surface interactions at the vascular wall. The drugs penicillamine and iodoquinol have been mentioned in the context of this disorder. Affiliated tissues include kidney, testes and colon, and related mouse phenotypes are renal/urinary system and homeostasis/metabolism.

UniProtKB/Swiss-Prot:70 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.

OMIM:52 Cystinuria is an autosomal disorder characterized by impaired epithelial cell transport of cystine and dibasic amino... (220100) more...

Disease Ontology:11 An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder.

Wikipedia:71 Cystinuria is an inherited autosomal recessivedisease that is characterized by high concentrations of... more...

Related Diseases for Cystinuria

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Graphical network of the top 20 diseases related to Cystinuria:



Diseases related to cystinuria

Symptoms & Phenotypes for Cystinuria

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Symptoms by clinical synopsis from OMIM:

220100

Clinical features from OMIM:

220100

Human phenotypes related to Cystinuria:

 64 54 (show all 11)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nephrolithiasis64 54 hallmark (90%) Very frequent (99-80%) HP:0000787
2 hematuria64 54 hallmark (90%) Very frequent (99-80%) HP:0000790
3 renal insufficiency64 54 typical (50%) Frequent (79-30%) HP:0000083
4 hyperuricemia64 54 typical (50%) Frequent (79-30%) HP:0002149
5 recurrent urinary tract infections64 HP:0000010
6 abnormality of the nervous system64 HP:0000707
7 cystinuria64 HP:0003131
8 argininuria64 HP:0003268
9 hyperlysinuria64 HP:0003297
10 ornithinuria64 HP:0003532
11 abnormality of amino acid metabolism54 Very frequent (99-80%)

UMLS symptoms related to Cystinuria:


traumatic hematuria, pneumatouria, chyluria

MGI Mouse Phenotypes related to Cystinuria according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.1OAT, SLC3A1, SLC6A18, SLC7A7, SLC7A9
2MP:00053767.3CAMKMT, OAT, SLC3A1, SLC3A2, SLC6A18, SLC7A10

Drugs & Therapeutics for Cystinuria

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

(show all 31)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
SulfamethoxazoleapprovedPhase 2158723-46-65329
Synonyms:
129378-89-8
3-(Para-Aminophenylsulphonamido)-5-methylisoxazole
3-(p-Aminobenzenesulfonamido)-5-methylisoxazole
3-(p-Aminophenylsulfonamido)-5-methylisoxazole
3-(para-Aminophenylsulphonamido)-5-methylisoxazole
3-Sulfanilamido-5-methylisoxazole
3-Sulphanilamido-5-methylisoxazole
4-Amino-N-(5-methyl-1,2-oxazol-3-yl)benzenesulfonamide
4-Amino-N-(5-methyl-3-isoxazolyl)-Benzenesulfonamide
4-Amino-N-(5-methyl-3-isoxazolyl)benzenesulfonamide
4-Amino-N-(5-methyl-isoxazol-3-yl)-benzenesulfonamide
4-Amino-N-[5-methyl-3- isoxazolyl]benzenesulfonamide
4-amino-N-(5-methyl-1,2-oxazol-3-yl)benzenesulfonamide
4-amino-N-(5-methylisoxazol-3-yl)benzenesulfonamide
46850_RIEDEL
5-Methyl-3-sulfanilamidoisoxazole
5-Methyl-3-sulfanylamidoisoxazole
5-Methyl-3-sulfonylamidoisoxazole
5-Methyl-3-sulphanil-amidoisoxazole
723-46-6
A047
AB00052099
AC-11118
AC1L1K42
AC1Q2J5R
AKOS000200952
ALBB-002089
ARONIS018156
Apo-Sulfamethoxazole
Azo Gantanol
Azo-Gantanol
Azo-gantanol
BAS 00836086
BB_SC-1251
BIDD:GT0731
BPBio1_000081
BRD-K28494619-001-05-0
BRN 0226453
BSPBio_000073
BSPBio_002028
Bactrim
Bactrimel
C07315
C10H11N3O3S
CAS-723-46-6
CCRIS 567
CHEBI:9332
CHEMBL443
CID5329
CPD000058223
D00447
D013420
DB01015
DivK1c_000649
EINECS 211-963-3
Gamazole
Gantanol
Gantanol (TN)
Gantanol (tn)
Gantanol-DS
HMS1568D15
HMS1921A21
HMS2092K03
HMS502A11
HMS561O18
HSDB 3186
I01-0154
IDI1_000649
InChI=1/C10H11N3O3S/c1-7-6-10(12-16-7)13-17(14,15)9-4-2-8(11)3-5-9/h2-6H,11H2,1H3,(H,12,13)
KBio1_000649
KBio2_001474
KBio2_004042
KBio2_006610
KBio3_001528
KBioGR_000749
KBioSS_001474
LS-1620
MLS000069732
MLS001055354
MLS001074165
MS 53
Maybridge1_007190
Metoxal
MolPort-000-145-787
N'-(5-Methyl-3-isoxazole)sulfanilamide
 
N'-(5-Methyl-3-isoxazolyl)-Sulfanilamide
N'-(5-Methyl-3-isoxazolyl)sulfanilamide
N'-(5-Methylisoxazol-3-yl)sulphanilamide
N(Sup1)-(5-Methyl-3-isoxazolyl)sulfanilamide
N(sup 1)-(5-Methyl-3-isoxazolyl)sulfanilamide
N(sup 1)-(5-Methyl-3-isoxazolyl)sulphanilamide
N(sup1)-(5-Methyl-3-isoxazolyl)sulfanilamide
N1-(5-Methyl-3-isoxazolyl)sulfanilamide
N1-(5-Methyl-3-isoxazolyl)sulphanilamide
N1-(5-Methylisoxazol-3-yl)sulfanilamide
N1-(5-methyl-3-isoxazolyl)-Sulfanilamide
NCGC00016533-01
NCGC00016533-02
NCGC00021995-03
NCGC00021995-04
NCGC00021995-05
NINDS_000649
NSC 147832
NSC147832
N^1-(5-Methyl-3-isoxazolyl)-Sulfanilamide
Ndimethyl1-(5-methyl-3-isoxazolyl)-Sulfanilamide
Oprea1_114486
Oprea1_285680
Prestwick0_000177
Prestwick1_000177
Prestwick2_000177
Prestwick3_000177
Prestwick_453
Radonil
Ro 4-2130
Ro 6-2580/11
Ro-4-2130
S0361
S1915_Selleck
S7507_FLUKA
S7507_SIGMA
SAM002554930
SIM
SMR000058223
SMX
SPBio_000896
SPBio_001994
SPECTRUM1500550
STK007988
SULFAMETHOXAZOLE (8064-90-2 (TRIMETHOPRIM/SULFAMETHOXAZOLE)
Septran
Simsinomin
Sinomin
Solfametossazolo
Solfametossazolo [DCIT]
Spectrum2_000788
Spectrum3_000584
Spectrum4_000345
Spectrum5_000982
Spectrum_000994
Sulfamethalazole
Sulfamethoxazol
Sulfamethoxazole
Sulfamethoxazole (JP15/USP/INN)
Sulfamethoxazole [USAN:INN:JAN]
Sulfamethoxazole sodium
Sulfamethoxazole(USAN)
Sulfamethoxazolum
Sulfamethoxazolum [INN-Latin]
Sulfamethoxizole
Sulfamethylisoxazole
Sulfametoxazol
Sulfametoxazol [INN-Spanish]
Sulfanilamide, N1-(5-methyl-3-isoxazolyl)- (8CI)
Sulfisomezole
Sulpha-Methoxizole
Sulpha-methoxizole
Sulphamethalazole
Sulphamethoxazol
Sulphamethoxazole
Sulphamethoxazole BP 98
Sulphamethylisoxazole
Sulphisomezole
TL8005058
TMP/SMX (MIXTURE))
Trib
UNII-JE42381TNV
Urobak
WLN: T5NOJ C1 EMSWR DZ
ZINC00089763
nchembio.221-comp24
sulfamethoxazole
2
Folic Acidapproved, nutraceutical, vet_approvedPhase 2427959-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
Folsaeure
 
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
3Antirheumatic AgentsPhase 210627
4Protective AgentsPhase 27190
5Anti-Infective AgentsPhase 221402
6Trace ElementsPhase 25802
7VitaminsPhase 25095
8Vitamin B ComplexPhase 24229
9Peripheral Nervous System AgentsPhase 222776
10Thioctic AcidPhase 2115
11MicronutrientsPhase 25802
12Anti-Inflammatory Agents, Non-SteroidalPhase 24295
13Anti-Inflammatory AgentsPhase 210355
14Analgesics, Non-NarcoticPhase 26260
15AntioxidantsPhase 22928
16AnalgesicsPhase 211287
17bucillaminePhase 24
18cysteineNutraceuticalPhase 2190
19Vitamin B9NutraceuticalPhase 24279
20Alpha-lipoic AcidNutraceuticalPhase 2115
21FolateNutraceuticalPhase 24279
22
Penicillamineapproved652-67-55852, 4727
Synonyms:
(-)-Penicillamine
(2S)-2-Amino-3-methyl-3-sulfanylbutanoic acid
(2S)-2-amino-3-methyl-3-sulfanyl-butanoic acid
(D)-PENICILLAMINE
(S)-2-amino-3-mercapto-3-methylbutanoic acid
(S)-3,3-Dimethylcysteine
(S)-3,3-dimethylcysteine
(S)-Penicillamin
(S)-Penicillamine
(−)-penicillamine
16414-54-3
2-Amino-3-mercapto-3-methylbutanoic acid
3,3-Dimethyl-D-cysteine
3-Mercapto-D-valine
3-Mercaptovaline
3-mercapto-D-valine
3-sulfanyl-D-valine
52-67-5
76400_FLUKA
AC1L1L9Z
AC1Q1NP9
AC1Q1NPA
Artamine
BSPBio_002181
Bio-0578
C07418
CCRIS 2904
CHEBI:7959
CHEMBL1430
CID5852
CPD-7702
Copper penicillaminate
Cuprenil
Cuprimine
Cuprimine (TN)
Cupripen
D 3 Mercaptovaline
D Penicillamine
D-(-)-2-Amino-3-mercapto-3-methylbutanoic acid
D-(-)-Penicillamine
D-(−)-penicillamine
D-3-Mercaptovaline
D-Mercaptovaline
D-Penamine
D-Penicilamine
D-Penicillamine
D-Penicyllamine
D-beta,beta-Dimethylcysteine
D-beta-Mercaptovaline
D-penicillamine
D-β,β-dimethylcysteine
D00496
D010396
DB00859
Depamine
Depen
Depen (TN)
Dimethylcysteine
Distamine (*Hydrochloride*)
DivK1c_000314
EINECS 200-148-8
 
Emtexate
HSDB 3378
IDI1_000314
InChI=1/C5H11NO2S/c1-5(2,9)3(6)4(7)8/h3,9H,6H2,1-2H3,(H,7,8
KBio1_000314
KBio2_000763
KBio2_003331
KBio2_005899
KBio3_001681
KBioGR_000920
KBioSS_000763
Kuprenil
L-Penicillamine
LS-161321
Mercaptovaline
Mercaptyl
Metalcaptase
Metalcaptase (*Hydrochloride*)
MolPort-001-792-382
NCGC00018283-01
NCGC00024359-04
NCGC00024359-05
NINDS_000314
NSC 81549
NSC81549
P-1280
P0147
P4875_SIGMA
PA
Pendramine
Penicilamina
Penicilamina [INN-Spanish]
Penicillamin
Penicillamina
Penicillamina [DCIT]
Penicillaminate, Copper
Penicillamine (JAN/USP/INN)
Penicillamine [USAN:INN:BAN:JAN]
Penicillaminum
Penicillaminum [INN-Latin]
Penicilllamine
Perdolat
Reduced D-penicillamine
Reduced penicillamine
S1853_Selleck
SMP1_000042
SPBio_001217
Spectrum2_001029
Spectrum3_000541
Spectrum4_000470
Spectrum5_001196
Spectrum_000283
Sufirtan
Sufortan
TBB068824
Trolovol
UNII-GNN1DV99GX
alpha-Amino-beta-methyl-beta-mercaptobutyric acid
beta,beta Dimethylcysteine
beta,beta-Dimethylcysteine
beta-Thiovaline
d,3-Mercaptovaline
penicillamine
23
Tolvaptanapproved89150683-30-0216237
Synonyms:
( -)-4'-((7-Chloro-2,3,4,5-tetrahydro-5-hydroxy-1H-1-benzazepin-1-yl)carbonyl)-o-tolu-m-toluidide
150683-30-0
7-Chloro-5-hydroxy-1-(2-methyl-4-(2-methylbenzoylamino)benzoyl)2,3,4,5-tetrahydro-1H-1-benzazepine
AC1L50C9
C116664
CHEBI:327437
CHEMBL344159
CID216237
 
L001628
N-[4-(7-chloro-5-hydroxy-2,3,4,5-tetrahydro-1-benzazepine-1-carbonyl)-3-methylphenyl]-2-methylbenzamide
OPC 41061
OPC-41061
PDSP1_001738
PDSP2_001721
Samsca
Tolvaptan
UNII-21G72T1950
benzazepine derivative, 32
24Hormones13979
25Anesthetics9001
26Antidotes1038
27Chelating Agents1365
28Natriuretic Agents1645
29Vasopressins286
30Arginine Vasopressin290
31NoniNutraceutical9

Interventional clinical trials:

(show all 14)
idNameStatusNCT IDPhase
1Use of an Herbal Preparation to Prevent and Dissolve Kidney StonesCompletedNCT00381849Phase 1, Phase 2
2Sulfamethoxazole for the Treatment of Primary PREPL DeficiencyEnrolling by invitationNCT02640443Phase 2
3Trial in Patients With CystinuriaNot yet recruitingNCT02942420Phase 2
4Lipoic Acid Supplement for Cystine StoneNot yet recruitingNCT02910531Phase 2
5PREPL in Health and DiseaseUnknown statusNCT02263781
6Rare Kidney Stone Consortium Patient RegistryRecruitingNCT00588562
7Rare Kidney Stone Consortium BiobankRecruitingNCT02026388
8Prospective Research Rare Kidney Stones (ProRKS)RecruitingNCT02780297
9Health-related Quality of Life in Rare Kidney StoneRecruitingNCT02124395
10Randall's Plaque Study: Pathogenesis and Relationship to NephrolithiasisRecruitingNCT00169806
11Effect of Increasing Doses of Cystine Binding Thiol Drugs on Cystine Capacity in Patients With CystinuriaActive, not recruitingNCT02125721
12Cystine Capacity Clinical Study (CysCap)Active, not recruitingNCT02120105
13TCUPS- Tolvaptan Use in Cyctinuria and Urolithiasis: A Pilot StudyNot yet recruitingNCT02538016
14Genetic Study of Nephrolithiasis in Gouty DiathesisTerminatedNCT00149305

Search NIH Clinical Center for Cystinuria

Inferred drug relations via UMLS68/NDF-RT46:


Cochrane evidence based reviews: cystinuria

Genetic Tests for Cystinuria

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Genetic tests related to Cystinuria:

id Genetic test Affiliating Genes
1 Cystinuria27 24 SLC3A1, SLC7A9

Anatomical Context for Cystinuria

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MalaCards organs/tissues related to Cystinuria:

36
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 TissueAnatomical CompartmentCell Relevance
1 KidneyProximal TubuleProximal Tubule Cells Potential therapeutic candidate, affected by disease

Publications for Cystinuria

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Articles related to Cystinuria:

(show top 50)    (show all 546)
idTitleAuthorsYear
1
Re: Can the Presence of Crystalluria Predict Stone Formation in Patients with Cystinuria? (27979524)
2017
2
Genotype and Phenotype Analysis in Pediatric Patients with Cystinuria. (28049243)
2017
3
A Novel Mutation in SLC3A1 Gene in Patients With Cystinuria. (26837681)
2016
4
Novel cystine transporter in renal proximal tubule identified as a missing partner of cystinuria-related plasma membrane protein rBAT/SLC3A1. (26739563)
2016
5
Imaging and surgical utilization for pediatric cystinuria patients: AA single-institution cohort study. (26597229)
2016
6
The Role of Protein Modelling in Predicting the Disease Severity of Cystinuria. (26589650)
2016
7
Infrared vibrational spectroscopy: a rapid and novel diagnostic and monitoring tool for cystinuria. (27721432)
2016
8
A case of cystinuria presenting with cerebellar ataxia and dementia. (26929440)
2016
9
Re: Imaging and Surgical Utilization for Pediatric Cystinuria Patients: A Single-Institution Cohort Study. (27186779)
2016
10
Case Report: Cystinuria and Polycystic Kidney Disease. (27940671)
2016
11
Commentary to "Imaging and surgical utilization for pediatric cystinuria patients: A single-institution cohort study". (26683112)
2016
12
Cystinuria Associated with Different SLC7A9 Gene Variants in the Cat. (27404572)
2016
13
Can the Presence of Crystalluria Predict Stone Formation in Patients with Cystinuria? (26781171)
2016
14
l-Cystine Diamides as l-Cystine Crystallization Inhibitors for Cystinuria. (27409142)
2016
15
Molecular and Clinical Investigation of Cystinuria in the Greek-Cypriot Population. (26540609)
2015
16
Cystinuria in a patient with a novel mutation in SLC7A9 gene. (25599739)
2015
17
A diagnostic dilemma in a family with cystinuria type B resolved by muscle magnetic resonance. (25882082)
2015
18
Feline cystinuria caused by a missense mutation in the SLC3A1 gene. (25417848)
2015
19
Clinical and genetic analysis of patients with cystinuria in the United Kingdom. (25964309)
2015
20
CKD and Its Risk Factors among Patients with Cystinuria. (25717071)
2015
21
The role of N-glycans and the C-terminal loop of the subunit rBAT in the biogenesis of the cystinuria associated transporter. (26537754)
2015
22
Digenic Inheritance in Cystinuria Mouse Model. (26359869)
2015
23
Urinary stone composition in Oman: with high incidence of cystinuria. (25805105)
2015
24
Mutation analysis of SLC3A1 and SLC7A9 genes in patients with cystinuria. (26123750)
2015
25
Cystinuria: current concepts and future directions. (25685869)
2015
26
Re: CKD and its Risk Factors among Patients with Cystinuria. (26478036)
2015
27
Cystinuria-a urologist's perspective. (24662732)
2014
28
PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome. (24610330)
2014
29
Novel cystine ester mimics for the treatment of cystinuria-induced urolithiasis in a knockout mouse model. (25443947)
2014
30
The Genetic Diversity of Cystinuria in a UK Population of Patients. (25109415)
2014
31
Synergistic mutations in SLC3A1 and SLC7A9 leading to heterogeneous cystinuria phenotypes: pitfalls in the diagnostic workup. (24045899)
2014
32
An animal model of type A cystinuria due to spontaneous mutation in 129S2/SvPasCrl mice. (25048459)
2014
33
A New Workflow for Proteomic Analysis of Urinary Exosomes and Assessment in Cystinuria Patients. (25365230)
2014
34
Re: Saravakos et al.: Cystinuria: current diagnosis and management (Urology 2013;83:693-699). (24680465)
2014
35
Autosomal recessive cystinuria caused by genome-wide paternal uniparental isodisomy in a patient with Beckwith-Wiedemann syndrome. (25171146)
2014
36
Re: further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria. (24522044)
2014
37
Cystinuria in a Girl Presenting with a Hyperechogenic Colon Detected by Prenatal Ultrasonography and a New SLC3A1 Gene Mutation (p.Phe278Ser). (24824759)
2014
38
Molecular characterization of cystinuria in south-eastern European countries. (23532419)
2013
39
Update on cystinuria. (23666417)
2013
40
Monosodium urate stones are rare, and urine pH is not low in cystinuria. (23773841)
2013
41
Words of wisdom: Re: The interaction of thiol drugs and urine pH in the treatment of cystinuria. (23915464)
2013
42
The effect of prophylactic treatment with Shohl's solution in children with cystinuria. (23806278)
2013
43
Cystinuria crystals: an image from a 14-year-old girl with cystinuria. (23537763)
2013
44
Cystinuria: Current Diagnosis and Management. (24246330)
2013
45
In reply to 'Monosodium urate stones are rare, and urine pH is not low in cystinuria'. (23773842)
2013
46
The Interaction of thiol drugs and urine pH in the treatment of cystinuria. (23261477)
2013
47
Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria. (23794250)
2013
48
An uncommon cause of acute kidney injury in young children: cystinuria. (23099233)
2013
49
SLC3A1 and SLC7A9 Mutations in Autosomal Recessive or Dominant Canine Cystinuria: A New Classification System. (24001348)
2013
50
Clinical utility gene card for: Cystinuria. (21863055)
2012

Variations for Cystinuria

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UniProtKB/Swiss-Prot genetic disease variations for Cystinuria:

70 (show all 83)
id Symbol AA change Variation ID SNP ID
1SLC3A1p.Pro128GlnVAR_011420
2SLC3A1p.Arg181GlnVAR_011421rs121912694
3SLC3A1p.Glu268LysVAR_011422rs757239030
4SLC3A1p.Thr341AlaVAR_011423rs200287661
5SLC3A1p.Arg365TrpVAR_011424rs765828196
6SLC3A1p.Arg452TrpVAR_011425rs201502095
7SLC3A1p.Tyr461HisVAR_011426rs144162964
8SLC3A1p.Met467ThrVAR_011427rs121912691
9SLC3A1p.Met467LysVAR_011428rs121912691
10SLC3A1p.Tyr582HisVAR_011429rs776729515
11SLC3A1p.Pro615ThrVAR_011430rs121912696
12SLC3A1p.Phe648SerVAR_011432
13SLC3A1p.Thr652ArgVAR_011433rs121912695
14SLC3A1p.Leu678ProVAR_011434rs121912693
15SLC3A1p.Thr216MetVAR_022600rs369641941
16SLC3A1p.Arg362CysVAR_022601rs375399468
17SLC3A1p.Pro508AlaVAR_022602
18SLC3A1p.Tyr151CysVAR_038200rs778354350
19SLC3A1p.Asn253LysVAR_038201
20SLC3A1p.Arg362HisVAR_038202rs121912697
21SLC3A1p.Gly398ArgVAR_038203
22SLC3A1p.Gly481ValVAR_038204
23SLC3A1p.Glu482LysVAR_038205
24SLC3A1p.Gln510ArgVAR_038206rs778925791
25SLC3A1p.Arg584ThrVAR_038207rs759696513
26SLC3A1p.Phe599SerVAR_038208rs146963107
27SLC3A1p.Gly600GluVAR_038209rs141944551
28SLC3A1p.Pro122SerVAR_064040
29SLC3A1p.Leu89ProVAR_072283
30SLC3A1p.Met123ArgVAR_072284
31SLC3A1p.Tyr124CysVAR_072285rs766947722
32SLC3A1p.Ser130ProVAR_072286
33SLC3A1p.Asp137GlyVAR_072287
34SLC3A1p.Gly140ArgVAR_072288rs768848958
35SLC3A1p.Leu149GlnVAR_072289
36SLC3A1p.Asp179TyrVAR_072290rs747660493
37SLC3A1p.Thr189MetVAR_072292rs140317484
38SLC3A1p.His348ProVAR_072294rs756887216
39SLC3A1p.Arg365ProVAR_072295rs567478582
40SLC3A1p.Asn410LysVAR_072296
41SLC3A1p.Pro441ArgVAR_072297
42SLC3A1p.Arg452GlnVAR_072299rs750912461
43SLC3A1p.Ser455LeuVAR_072300
44SLC3A1p.Arg456CysVAR_072301rs139251285
45SLC3A1p.Arg456HisVAR_072302rs373852467
46SLC3A1p.Ser507LeuVAR_072303
47SLC3A1p.Ser547TrpVAR_072304rs368796166
48SLC3A1p.Gly568SerVAR_072305rs376639206
49SLC3A1p.Cys666TrpVAR_072306
50SLC7A9p.Gly105ArgVAR_010256rs121908480
51SLC7A9p.Val170MetVAR_010257rs121908479
52SLC7A9p.Ala182ThrVAR_010258rs79389353
53SLC7A9p.Gly195ArgVAR_010259rs121908482
54SLC7A9p.Gly259ArgVAR_010260rs121908483
55SLC7A9p.Ile44ThrVAR_014363rs121908485
56SLC7A9p.Pro261LeuVAR_014364rs121908486
57SLC7A9p.Ala354ThrVAR_014365
58SLC7A9p.Val330MetVAR_015885rs201618022
59SLC7A9p.Pro52LeuVAR_018998
60SLC7A9p.Gly63ArgVAR_018999
61SLC7A9p.Trp69LeuVAR_019000
62SLC7A9p.Ala70ValVAR_019001rs769448665
63SLC7A9p.Thr123MetVAR_019002rs79987078
64SLC7A9p.Ala126ThrVAR_019003rs372306844
65SLC7A9p.Ile187PheVAR_019005rs368441237
66SLC7A9p.Trp230ArgVAR_019008
67SLC7A9p.Ile241ThrVAR_019009rs777371504
68SLC7A9p.Arg333TrpVAR_019011rs121908484
69SLC7A9p.Ser379ArgVAR_019012rs142270619
70SLC7A9p.Ala382ThrVAR_019013rs774878350
71SLC7A9p.Ala224ValVAR_022603rs140873167
72SLC7A9p.Ala331ValVAR_022604rs768466784
73SLC7A9p.Val62MetVAR_072310
74SLC7A9p.Gly105GluVAR_072312
75SLC7A9p.Val188MetVAR_072315rs531029519
76SLC7A9p.Asn227AspVAR_072316
77SLC7A9p.Tyr232CysVAR_072317rs121908487
78SLC7A9p.Arg250LysVAR_072318rs766529640
79SLC7A9p.Leu283PheVAR_072319
80SLC7A9p.Ala316ValVAR_072321
81SLC7A9p.Gly319ArgVAR_072322
82SLC7A9p.Arg333GlnVAR_072324rs769576205
83SLC7A9p.Pro482LeuVAR_072327rs146815072

Clinvar genetic disease variations for Cystinuria:

5 (show all 30)
id Gene Variation Type Significance SNP ID Assembly Location
1SLC3A1NM_000341.3(SLC3A1): c.1400T> C (p.Met467Thr)SNVPathogenicrs121912691GRCh37Chr 2, 44539792: 44539792
2SLC3A1NM_000341.3(SLC3A1): c.1400T> A (p.Met467Lys)SNVPathogenicrs121912691GRCh37Chr 2, 44539792: 44539792
3SLC3A1NM_000341.3(SLC3A1): c.2033T> C (p.Leu678Pro)SNVPathogenicrs121912693GRCh37Chr 2, 44547753: 44547753
4SLC3A1NM_000341.3(SLC3A1): c.542G> A (p.Arg181Gln)SNVPathogenicrs121912694GRCh37Chr 2, 44507966: 44507966
5SLC3A1NM_000341.3(SLC3A1): c.1955C> G (p.Thr652Arg)SNVPathogenicrs121912695GRCh37Chr 2, 44547675: 44547675
6SLC3A1NM_000341.3(SLC3A1): c.1843C> A (p.Pro615Thr)SNVPathogenicrs121912696GRCh37Chr 2, 44547563: 44547563
7SLC3A1SLC3A1, EX5-9DUPduplicationPathogenicChr na, -1: -1
8SLC3A1NM_000341.3(SLC3A1): c.1085G> A (p.Arg362His)SNVPathogenicrs121912697GRCh37Chr 2, 44528215: 44528215
9SLC3A1NM_000341.3(SLC3A1): c.1275_1276dupTG (p.Glu426Valfs)duplicationLikely pathogenicrs797044609GRCh38Chr 2, 44304281: 44304282
10SLC7A9NM_001243036.1(SLC7A9): c.1225-4678_1324deldeletionPathogenicGRCh37Chr 19, 33324130: 33328907
11SLC3A1NM_000341.3(SLC3A1): c.1500+1G> TSNVPathogenicrs886042834GRCh37Chr 2, 44539893: 44539893
12SLC7A9NM_014270.4(SLC7A9): c.614dupA (p.Asn206Glufs)duplicationPathogenicrs745319034GRCh37Chr 19, 33353114: 33353114
13SLC3A1NM_000341.3(SLC3A1): c.808C> T (p.Arg270Ter)SNVPathogenicrs200483989GRCh37Chr 2, 44513213: 44513213
14SLC3A1NM_000341.3(SLC3A1): c.1354C> T (p.Arg452Trp)SNVLikely pathogenicrs201502095GRCh37Chr 2, 44539746: 44539746
15SLC3A1NM_000341.3(SLC3A1): c.1597T> A (p.Tyr533Asn)SNVPathogenicrs387907276GRCh37Chr 2, 44541070: 44541070
16SLC7A9NM_014270.4(SLC7A9): c.508G> A (p.Val170Met)SNVPathogenicrs121908479GRCh37Chr 19, 33353463: 33353463
17SLC7A9NM_014270.4(SLC7A9): c.313G> A (p.Gly105Arg)SNVPathogenicrs121908480GRCh37Chr 19, 33355167: 33355167
18SLC7A9NM_014270.4(SLC7A9): c.544G> A (p.Ala182Thr)SNVLikely pathogenic, Pathogenicrs79389353GRCh37Chr 19, 33353427: 33353427
19SLC7A9NM_014270.4(SLC7A9): c.583G> A (p.Gly195Arg)SNVPathogenicrs121908482GRCh37Chr 19, 33353388: 33353388
20SLC7A9NM_014270.4(SLC7A9): c.775G> A (p.Gly259Arg)SNVPathogenicrs121908483GRCh37Chr 19, 33350845: 33350845
21SLC7A9SLC7A9, 2-BP DEL, 596TGdeletionPathogenicChr na, -1: -1
22SLC7A9SLC7A9, 1-BP INS, 520TinsertionPathogenicChr na, -1: -1
23SLC7A9NM_014270.4(SLC7A9): c.997C> T (p.Arg333Trp)SNVPathogenicrs121908484GRCh37Chr 19, 33334838: 33334838
24SLC7A9NM_014270.4(SLC7A9): c.131T> C (p.Ile44Thr)SNVPathogenicrs121908485GRCh37Chr 19, 33355639: 33355639
25SLC7A9NM_014270.4(SLC7A9): c.782C> T (p.Pro261Leu)SNVPathogenicrs121908486GRCh37Chr 19, 33350838: 33350838
26SLC7A9SLC7A9, 1-BP INS, 799AinsertionPathogenicChr na, -1: -1
27SLC7A9NM_014270.4(SLC7A9): c.695A> G (p.Tyr232Cys)SNVPathogenicrs121908487GRCh37Chr 19, 33353033: 33353033
28SLC7A9SLC7A9, 789+2T-CSNVPathogenicChr na, -1: -1
29SLC7A9NM_014270.4(SLC7A9): c.368C> T (p.Thr123Met)SNVPathogenicrs79987078GRCh37Chr 19, 33355112: 33355112
30SLC7A9SLC7A9, IVS5AS, C-A, -3SNVPathogenicChr na, -1: -1

Copy number variations for Cystinuria from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1127881193801325838052523RearrangementSLC7A9Cystinuria
214563724160000047600000MicrodeletionC2orf34Cystinuria
314563824160000047600000MicrodeletionPP2CbCystinuria
414599524435610044401466Genomic rearrangemen tSLC3A1Cystinuria

Expression for genes affiliated with Cystinuria

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Search GEO for disease gene expression data for Cystinuria.

Pathways for genes affiliated with Cystinuria

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GO Terms for genes affiliated with Cystinuria

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

idNameGO IDScoreTop Affiliating Genes
1brush border membraneGO:003152610.1SLC3A1, SLC6A18, SLC7A9
2integral component of plasma membraneGO:00058878.4SLC1A4, SLC3A1, SLC6A18, SLC7A10, SLC7A11, SLC7A7
3plasma membraneGO:00058866.8CEP89, SLC1A4, SLC3A1, SLC3A2, SLC6A18, SLC7A10

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1basic amino acid transmembrane transportGO:199082210.4SLC3A1, SLC7A7
2cellular amino acid metabolic processGO:000652010.4SLC3A1, SLC7A7
3L-serine transportGO:001582510.2SLC1A4, SLC7A10
4L-cystine transportGO:001581110.0SLC1A4, SLC3A1, SLC7A9
5neutral amino acid transportGO:00158049.5SLC3A2, SLC7A10, SLC7A9
6amino acid transmembrane transportGO:00033339.1SLC3A1, SLC6A18, SLC7A10, SLC7A11, SLC7A9
7leukocyte migrationGO:00509009.0SLC3A2, SLC7A10, SLC7A11, SLC7A7, SLC7A9
8amino acid transportGO:00068657.9SLC1A4, SLC3A1, SLC3A2, SLC6A18, SLC7A10, SLC7A11

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1basic amino acid transmembrane transporter activityGO:001517410.5SLC3A1, SLC7A7
2catalytic activityGO:000382410.2SLC3A1, SLC3A2
3antiporter activityGO:001529710.2SLC7A10, SLC7A7, SLC7A9
4L-serine transmembrane transporter activityGO:00151949.9SLC1A4, SLC7A10
5L-cystine transmembrane transporter activityGO:00151849.8SLC1A4, SLC3A1, SLC7A9
6amino acid transmembrane transporter activityGO:00151719.4SLC1A4, SLC3A1, SLC6A18, SLC7A9
7neutral amino acid transmembrane transporter activityGO:00151759.0SLC1A4, SLC3A2, SLC7A10, SLC7A9

Sources for Cystinuria

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet