MCID: CYS013
MIFTS: 63

Cystinuria malady

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

Aliases & Classifications for Cystinuria

About this section
Sources:
50OMIM, 33LifeMap Discovery®, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 28ICD10, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Cystinuria:

Name: Cystinuria 50 33 11 46 23 24 13 52 68 25 12 48 37 66
Csnu 46 24 68
Cystinuria Type a 52 68
Cystinuria Type B 52 68
Csnu1 23 68
Csnu3 23 68
Cystinuria-Lysinuria Syndrome 52
Cystinuria Type Non-I 68
Cystinuria, Type Iii 23
 
Cystinuria-Lysinuria 46
Cystinuria, Type Ii 23
Cystinuria Type a/b 68
Cystinuria Type Iii 68
Cystinuria, Type I 23
Cystinuria Type Ii 68
Cystinuria Type I 68
Cystinuria 1 68

Characteristics:

Orphanet epidemiological data:

52
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:

62


Classifications:



External Ids:

OMIM50 220100
Disease Ontology11 DOID:9266
ICD1028 E72.01
MeSH37 D003555
NCIt43 C84664
ICD10 via Orphanet29 E72.0
MESH via Orphanet38 D003555
UMLS via Orphanet67 C0010691, C0268646

Summaries for Cystinuria

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NIH Rare Diseases:46 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 Urea cycle and metabolism of amino groups. The drugs iodoquinol and penicillamine 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.

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

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.

OMIM:50 Cystinuria is an autosomal disorder characterized by impaired epithelial cell transport of cystine and dibasic amino... (220100) more...

UniProtKB/Swiss-Prot:68 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:69 Cystinuria is an inherited autosomal recessivedisease that is characterized by high concentrations of... more...

Related Diseases for Cystinuria

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Diseases related to Cystinuria via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 56)
idRelated DiseaseScoreTop Affiliating Genes
1hypotonia-cystinuria syndrome34.0CAMKMT, PREPL, SLC3A1
22p21 microdeletion syndrome without cystinuria12.0
3alk-positive large b-cell lymphoma10.5CAMKMT, PREPL
4waardenburg's syndrome10.2SLC3A1, SLC7A7, SLC7A9
5immunodeficiency 7, tcr-alpha/beta deficient10.2SLC3A1, SLC3A2, SLC7A7
6nephrolithiasis10.1
7hypotonia10.1
8fanconi syndrome10.0
9cystinosis10.0
10nephrotic syndrome10.0
11hyperuricemia10.0
12central neurocytoma9.9OAT, SLC6A18
13pulmonary fibrosis and/or bone marrow failure, telomere-related, 19.9SLC1A4, SLC6A18
14hypogonadotropic hypogonadism 14 with or without anosmia9.9OAT, SLC6A18
15spastic paraplegia 24, autosomal recessive9.9OAT, OTC
16rheumatoid arthritis9.8
17cystathioninuria9.8
18arthritis9.8
19choroiditis9.8
20homocystinuria9.8
21aminoaciduria9.8
22ataxia9.8
23atrophic glossitis9.8OAT, OTC
24shwachman-diamond syndrome9.7OTC, SLC6A18
25muckle-wells syndrome9.7
26alkaptonuria9.7
27cerebellar ataxia9.7
28beckwith-wiedemann syndrome9.7
29hyperlysinemia9.7
30saccharopinuria9.7
31pyruvate carboxylase deficiency9.7
32phenylketonuria9.7
33lysinuric protein intolerance9.7
34pentosuria9.7
35leukemia9.7
36renal tubular acidosis9.7
37spinal muscular atrophy9.7
38dermatomyositis9.7
39lymphoblastic leukemia9.7
40primary hyperparathyroidism9.7
41pyelonephritis9.7
42xanthogranulomatous pyelonephritis9.7
43dementia9.7
44hyperparathyroidism9.7
45ureterolithiasis9.7
46bardet-biedl syndrome9.7
47retinitis9.7
48paraplegia9.7
49muscular atrophy9.7
50duodenitis9.7

Graphical network of the top 20 diseases related to Cystinuria:



Diseases related to cystinuria

Symptoms for Cystinuria

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Symptoms by clinical synopsis from OMIM:

220100

Clinical features from OMIM:

220100

Symptoms:

 52
  • renal insufficiency
  • nephrolithiasis
  • hematuria
  • hyperuricemia
  • abnormality of amino acid metabolism

HPO human phenotypes related to Cystinuria:

(show all 12)
id Description Frequency HPO Source Accession
1 nephrolithiasis hallmark (90%) HP:0000787
2 hematuria hallmark (90%) HP:0000790
3 renal insufficiency typical (50%) HP:0000083
4 hyperuricemia typical (50%) HP:0002149
5 recurrent urinary tract infections HP:0000010
6 renal insufficiency HP:0000083
7 abnormality of the nervous system HP:0000707
8 nephrolithiasis HP:0000787
9 cystinuria HP:0003131
10 argininuria HP:0003268
11 hyperlysinuria HP:0003297
12 ornithinuria HP:0003532

UMLS symptoms related to Cystinuria:


chyluria, pneumatouria, traumatic hematuria

Drugs & Therapeutics for Cystinuria

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
SulfamethoxazolePhase 2157723-46-65329
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 AcidNutraceuticalPhase 2414359-30-36037
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
3FolateNutraceuticalPhase 24143
4
Penicillamine652-67-55852, 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
5
Tolvaptan85150683-30-0216237
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

Interventional clinical trials:

(show all 13)
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
3Lipoic Acid Supplement for Cystine StoneNot yet recruitingNCT02910531Phase 2
4Rare Kidney Stone Consortium Patient RegistryRecruitingNCT00588562
5Rare Kidney Stone Consortium BiobankRecruitingNCT02026388
6Prospective Research Rare Kidney Stones (ProRKS)RecruitingNCT02780297
7Health-related Quality of Life in Rare Kidney StoneRecruitingNCT02124395
8Randall's Plaque Study: Pathogenesis and Relationship to NephrolithiasisRecruitingNCT00169806
9Effect of Increasing Doses of Cystine Binding Thiol Drugs on Cystine Capacity in Patients With CystinuriaActive, not recruitingNCT02125721
10Cystine Capacity Clinical Study (CysCap)Active, not recruitingNCT02120105
11TCUPS- Tolvaptan Use in Cyctinuria and Urolithiasis: A Pilot StudyNot yet recruitingNCT02538016
12PREPL in Health and DiseaseNot yet recruitingNCT02263781
13Genetic Study of Nephrolithiasis in Gouty DiathesisTerminatedNCT00149305

Search NIH Clinical Center for Cystinuria

Inferred drug relations via UMLS66/NDF-RT44:


Cochrane evidence based reviews: cystinuria

Genetic Tests for Cystinuria

About this section

Genetic tests related to Cystinuria:

id Genetic test Affiliating Genes
1 Cystinuria25 23 SLC3A1, SLC7A9

Anatomical Context for Cystinuria

About this section

MalaCards organs/tissues related to Cystinuria:

34
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

Animal Models for Cystinuria or affiliated genes

About this section

MGI Mouse Phenotypes related to Cystinuria:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053677.8OAT, OTC, SLC3A1, SLC6A18, SLC7A7, SLC7A9
2MP:00053766.0ADCY10, CAMKMT, OAT, OTC, SLC3A1, SLC3A2

Publications for Cystinuria

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Articles related to Cystinuria:

(show top 50)    (show all 542)
idTitleAuthorsYear
1
A Novel Mutation in SLC3A1 Gene in Patients With Cystinuria. (26837681)
2016
2
Cystinuria-a urologist's perspective. (24662732)
2014
3
PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome. (24610330)
2014
4
Molecular characterization of cystinuria in south-eastern European countries. (23532419)
2013
5
Clinical utility gene card for: Cystinuria. (21863055)
2012
6
Nephrotic syndrome occurring during tiopronin treatment for cystinuria. (20924604)
2011
7
Potential pharmacologic treatments for cystinuria and for calcium stones associated with hyperuricosuria. (21757641)
2011
8
Novel human pathological mutations. Gene symbol: SLC7A9. Disease: cystinuria. (21488299)
2010
9
Novel human pathological mutations. Gene symbol: SLC7A9. Disease: cystinuria. (18383602)
2007
10
Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria. (18386361)
2007
11
Type I cystinuria and its genetic basis in a population of Turkish school children. (17880288)
2007
12
Efficient screening of the cystinuria-related C663T Slc3a1 nonsense mutation in Newfoundland dogs by denaturing high-performance liquid chromatography. (16566266)
2006
13
Gene symbol: SLC7A9. Disease: cystinuria, type non-I. (15818819)
2005
14
Identification of novel cystinuria mutations and polymorphisms in SLC3A1 and SLC7A9 genes: absence of SLC7A10 gene mutations in cystinuric patients. (16225397)
2005
15
Studies of urinary cystine precipitation in vitro: ontogeny of cystine nephrolithiasis and identification of meso-2,3-dimercaptosuccinic acid as a potential therapy for cystinuria. (14654355)
2003
16
SLC7A9 mutations in all three cystinuria subtypes. (12371955)
2002
17
Cystine analyses of separate day and night urine as a basis for the management of patients with homozygous cystinuria. (11762791)
2001
18
Molecular genetic analyses of cystinuria type 1 in 24 Turkish patients. (11432486)
2001
19
Cystinuria at the turn of the millennium: clinical aspects and new molecular developments. (11156709)
2000
20
The molecular basis of cystinuria: an update. (10810228)
2000
21
Renal polyamine excretion, tubular amino acid reabsorption and molecular genetics in cystinuria. (10805464)
2000
22
Refined mapping of the CSNU3 gene to a 1.8-Mb region on chromosome 19q13.1 using historical recombinants in Libyan Jewish cystinuria patients. (10486219)
1999
23
Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (b0,+AT) of rBAT. (10471498)
1999
24
Cystinuria calls for heteromultimeric amino acid transporters. (9719865)
1998
25
Genomic organization of a human cystine transporter gene (SLC3A1) and identification of novel mutations causing cystinuria. (9186880)
1997
26
Pathogenesis and medical management of cystinuria. (8890399)
1996
27
Medical treatment of cystinuria: results of contemporary clinical practice. (8863541)
1996
28
The molecular basis of cystinuria: the role of the rBAT gene. (24178689)
1996
29
Molecular screening of genetic defects with RNA-SSCP analysis: the PKU and cystinuria model. (7477014)
1995
30
Mutations in the SLC3A1 transporter gene in cystinuria. (7539209)
1995
31
Successful treatment of cystinuria with captopril. (8488818)
1993
32
Jeune syndrome associated with cystinuria: report of two sisters. (2260554)
1990
33
Lack of effect of captopril in cystinuria. (2225559)
1990
34
Cystinuria: failure of captopril to reduce cystine excretion. (2645847)
1989
35
Cystinuria in dogs: comparison of the cystinuric component of the Fanconi syndrome in basenji dogs to isolated cystinuria. (2909832)
1989
36
Pseudo-cystinuria-lysinuria in neonatal propionic acidemia. (3139329)
1988
37
Cystinuria--an experience in management over 18 years. (3627053)
1987
38
Cystinuria. (3762631)
1986
39
Studies on the metabolism of D-penicillamine and its interaction with probenecid in cystinuria and rheumatoid arthritis. (6481720)
1984
40
Cystinuria: the disease and its models. (6783799)
1981
41
Cystinuria--a case report. (7052855)
1981
42
The management of cystinuria in 1976. (122665)
1977
43
Homozygous cystinuria and the oculo-cerebro-renal dystrophy of Lowe in same family. (962366)
1976
44
Cystinuria: a new genetic variant. (939063)
1976
45
Renal clearance of amino acids in canine cystinuria. (4808511)
1974
46
Treatment of cystinuria with alpha-mercaptopropionylglycine: a preliminary report with some notes on column chromatography of mercaptans. (5725122)
1968
47
Cystinuria, 1810-1965. (5337498)
1967
48
D-penicillamine therapy in cystinuria. (5903040)
1966
49
Intestinal absorption and renal extraction of cystine and cysteine in cystinuria. (5841926)
1965
50
A rapid spot test for the determination of cystinuria and aminoaciduria. (13893181)
1961

Variations for Cystinuria

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UniProtKB/Swiss-Prot genetic disease variations for Cystinuria:

68 (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 26)
id Gene Variation Type Significance SNP ID Assembly Location
1SLC3A1NM_000341.3(SLC3A1): c.1400T> C (p.Met467Thr)single nucleotide variantPathogenicrs121912691GRCh37Chr 2, 44539792: 44539792
2SLC3A1NM_000341.3(SLC3A1): c.1400T> A (p.Met467Lys)single nucleotide variantPathogenicrs121912691GRCh37Chr 2, 44539792: 44539792
3NM_000341.3(SLC3A1): c.2033T> C (p.Leu678Pro)single nucleotide variantPathogenicrs121912693GRCh37Chr 2, 44547753: 44547753
4SLC3A1NM_000341.3(SLC3A1): c.542G> A (p.Arg181Gln)single nucleotide variantPathogenicrs121912694GRCh37Chr 2, 44507966: 44507966
5NM_000341.3(SLC3A1): c.1955C> G (p.Thr652Arg)single nucleotide variantPathogenicrs121912695GRCh37Chr 2, 44547675: 44547675
6NM_000341.3(SLC3A1): c.1843C> A (p.Pro615Thr)single nucleotide variantPathogenicrs121912696GRCh37Chr 2, 44547563: 44547563
7SLC3A1SLC3A1, EX5-9DUPduplicationPathogenic
8SLC3A1NM_000341.3(SLC3A1): c.1085G> A (p.Arg362His)single nucleotide variantPathogenicrs121912697GRCh37Chr 2, 44528215: 44528215
9SLC3A1NM_000341.3(SLC3A1): c.1275_1276dupTG (p.Glu426Valfs)duplicationLikely pathogenicrs797044609GRCh38Chr 2, 44304281: 44304282
10SLC7A9NM_001243036.1(SLC7A9): c.1225-4678_1324deldeletionPathogenic
11SLC3A1NM_000341.3(SLC3A1): c.1597T> A (p.Tyr533Asn)single nucleotide variantPathogenicrs387907276GRCh37Chr 2, 44541070: 44541070
12SLC7A9NM_014270.4(SLC7A9): c.508G> A (p.Val170Met)single nucleotide variantPathogenicrs121908479GRCh37Chr 19, 33353463: 33353463
13SLC7A9NM_014270.4(SLC7A9): c.313G> A (p.Gly105Arg)single nucleotide variantPathogenicrs121908480GRCh37Chr 19, 33355167: 33355167
14SLC7A9NM_014270.4(SLC7A9): c.544G> A (p.Ala182Thr)single nucleotide variantLikely pathogenic, Pathogenicrs79389353GRCh37Chr 19, 33353427: 33353427
15SLC7A9NM_014270.4(SLC7A9): c.583G> A (p.Gly195Arg)single nucleotide variantPathogenicrs121908482GRCh37Chr 19, 33353388: 33353388
16SLC7A9NM_014270.4(SLC7A9): c.775G> A (p.Gly259Arg)single nucleotide variantPathogenicrs121908483GRCh37Chr 19, 33350845: 33350845
17SLC7A9SLC7A9, 2-BP DEL, 596TGdeletionPathogenic
18SLC7A9SLC7A9, 1-BP INS, 520TinsertionPathogenic
19SLC7A9NM_014270.4(SLC7A9): c.997C> T (p.Arg333Trp)single nucleotide variantPathogenicrs121908484GRCh37Chr 19, 33334838: 33334838
20SLC7A9NM_014270.4(SLC7A9): c.131T> C (p.Ile44Thr)single nucleotide variantPathogenicrs121908485GRCh37Chr 19, 33355639: 33355639
21SLC7A9NM_014270.4(SLC7A9): c.782C> T (p.Pro261Leu)single nucleotide variantPathogenicrs121908486GRCh37Chr 19, 33350838: 33350838
22SLC7A9SLC7A9, 1-BP INS, 799AinsertionPathogenic
23SLC7A9NM_014270.4(SLC7A9): c.695A> G (p.Tyr232Cys)single nucleotide variantPathogenicrs121908487GRCh37Chr 19, 33353033: 33353033
24SLC7A9SLC7A9, 789+2T-Csingle nucleotide variantPathogenic
25SLC7A9NM_014270.4(SLC7A9): c.368C> T (p.Thr123Met)single nucleotide variantPathogenicrs79987078GRCh37Chr 19, 33355112: 33355112
26SLC7A9SLC7A9, IVS5AS, C-A, -3single nucleotide variantPathogenic

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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Pathways related to Cystinuria according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.4SLC3A1, SLC3A2, SLC7A7, SLC7A9
2
Show member pathways
9.3OAT, OTC
3
Show member pathways
9.0SLC3A2, SLC7A10, SLC7A11, SLC7A7, SLC7A9
49.0SLC3A2, SLC7A10, SLC7A11, SLC7A7, SLC7A9
5
Show member pathways
9.0SLC3A2, SLC7A10, SLC7A11, SLC7A7, SLC7A9
6
Show member pathways
7.7SLC1A4, SLC3A1, SLC3A2, SLC6A18, SLC7A10, SLC7A11

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:00315269.5SLC3A1, SLC6A18, SLC7A9
2integral component of plasma membraneGO:00058877.8SLC1A4, SLC3A1, SLC6A18, SLC7A10, SLC7A11, SLC7A7
3plasma membraneGO:00058866.4ADCY10, CEP89, SLC1A4, SLC3A1, SLC3A2, SLC6A18

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
2L-serine transportGO:001582510.2SLC1A4, SLC7A10
3neutral amino acid transportGO:001580410.1SLC3A2, SLC7A10, SLC7A9
4cellular amino acid metabolic processGO:00065209.6SLC3A1, SLC7A7
5L-cystine transportGO:00158119.4SLC1A4, SLC3A1, SLC7A9
6amino acid transmembrane transportGO:00033339.3SLC3A1, SLC6A18, SLC7A10, SLC7A11, SLC7A9
7leukocyte migrationGO:00509009.0SLC3A2, SLC7A10, SLC7A11, SLC7A7, SLC7A9
8amino acid transportGO:00068658.2SLC1A4, SLC3A1, SLC3A2, SLC6A18, SLC7A10, SLC7A11

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

idNameGO IDScoreTop Affiliating Genes
1basic amino acid transmembrane transporter activityGO:001517410.1SLC3A1, SLC7A7
2L-serine transmembrane transporter activityGO:001519410.0SLC1A4, SLC7A10
3L-cystine transmembrane transporter activityGO:00151849.5SLC1A4, SLC3A1, SLC7A9
4antiporter activityGO:00152979.4SLC7A10, SLC7A7, SLC7A9
5neutral amino acid transmembrane transporter activityGO:00151759.4SLC1A4, SLC3A2, SLC7A10, SLC7A9
6amino acid transmembrane transporter activityGO:00151719.2SLC1A4, SLC3A1, SLC6A18, SLC7A9

Sources for Cystinuria

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet