MCID: CYS013
MIFTS: 63

Cystinuria malady

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

Aliases & Classifications for Cystinuria

About this section
Sources:
49OMIM, 32LifeMap Discovery®, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 24GTR, 65UMLS, 27ICD10, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Cystinuria:

Name: Cystinuria 49 32 10 11 45 22 23 47 12 51 67 36 24 65
Csnu 45 23 67
Csnu3 22 67
Csnu1 22 67
Cystinuria-Lysinuria Syndrome 51
Cystinuria Type Non-I 67
Cystinuria-Lysinuria 45
Cystinuria, Type Iii 22
Cystinuria, Type Ii 22
 
Cystinuria Type Iii 67
Cystinuria Type a/b 67
Cystinuria Type Ii 67
Cystinuria, Type I 22
Cystinuria Type I 67
Cystinuria Type B 67
Cystinuria Type 1 65
Cystinuria Type a 67
Cystinuria 1 67

Characteristics:

Orphanet epidemiological data:

51
cystinuria:
Inheritance: 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

HPO:

61


Classifications:



External Ids:

OMIM49 220100
Disease Ontology10 DOID:9266
ICD1027 E72.01
MeSH36 D003555
NCIt42 C84664
Orphanet51 214
ICD10 via Orphanet28 E72.0
MESH via Orphanet37 D003555
UMLS via Orphanet66 C0010691, C0268646
UMLS65 C0010691, C0268643

Summaries for Cystinuria

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NIH Rare Diseases:45 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 hematuria, nephrolithiasis and hyperuricemia. An important gene associated with Cystinuria is SLC7A9 (Solute Carrier Family 7 Member 9), and among its related pathways are Basigin interactions 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, neutrophil and bone, and related mouse phenotype homeostasis/metabolism.

Disease Ontology:10 An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder.

UniProtKB/Swiss-Prot:67 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:23 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:49 Cystinuria is an autosomal disorder characterized by impaired epithelial cell transport of cystine and dibasic amino... (220100) more...

Wikipedia:68 Cystinuria is an inherited autosomal recessivedisease that is characterized by the formation of cystine... more...

Related Diseases for Cystinuria

About this section

Diseases in the Cystinuria family:

Cystinuria Type B Cystinuria Type a

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

(show top 50)    (show all 351)
idRelated DiseaseScoreTop Affiliating Genes
1hypotonia-cystinuria syndrome34.2CAMKMT, PREPL, SLC3A1
22p21 microdeletion syndrome without cystinuria12.3
3atypical hypotonia-cystinuria syndrome12.3
4cystinuria type b12.3
5cystinuria type a12.3
6leukemia10.4
7mitochondrial dna depletion syndrome, encephalomyopathic form with variable craniofacial anomalies10.3CAMKMT, PREPL
8hepatitis10.3
9aminolevulinate dehydratase deficiency porphyria10.3SLC3A1, SLC7A9
10arthritis10.2
11ileal pouch anal anastomosis related faecal incontinence10.2CAMKMT, PREPL, SLC3A1
12schizophrenia10.2
13thyroiditis10.2
14endotheliitis10.2
15ischemia10.2
16cerebritis10.2
17pancreatitis10.2
18prostatitis10.1
19cervicitis10.1
20retinitis10.1
21adenoma10.1
22aneurysm10.1
23headache10.1
24spasticity10.1
25mast-cell leukemia10.1SLC3A1, SLC7A7, SLC7A9
26immunodeficiency 7, tcr-alpha/beta deficient10.1SLC3A1, SLC3A2, SLC7A7
27lung cancer10.1
28breast cancer10.1
29otitis media10.1
30gastric cancer10.1
31lymphoma10.1
32dermatitis10.1
33hemoglobinopathy10.1
34neuronitis10.1
35monocytic leukemia10.1
36neuropathy10.1
3746,xy disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency10.0CAMKMT, PPM1B, PREPL, SLC3A1
38rheumatoid arthritis10.0
39myocardial infarction10.0
40prostate cancer10.0
41hepatitis c virus10.0
42myelodysplastic syndrome10.0
43multiple system atrophy10.0
44trichotillomania10.0
45adult t-cell leukemia10.0
46cataract10.0
47cerebral palsy10.0
48chronic lymphocytic leukemia10.0
49hemangioma10.0
50pre-eclampsia10.0

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:

 51
  • urinary/renal lithiasis/kidney stones/nephritic colic
  • hematuria/microhematuria
  • aminoacid metabolism anomalies/aminoaciduria
  • autosomal recessive inheritance
  • renal failure
  • hyperuricemia

HPO human phenotypes related to Cystinuria:

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

Drugs & Therapeutics for Cystinuria

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

(show all 15)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
SulfamethoxazoleapprovedPhase 2139723-46-65329
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
2Contraceptive AgentsPhase 1, Phase 21706
3Contraceptives, OralPhase 1, Phase 23734
4Anti-Infective AgentsPhase 217220
5
Penicillamineapproved652-67-55852, 4727
Synonyms:
(+-)-Penicillamine
(-)-Penicillamine
(2S)-2-Amino-3-methyl-3-sulfanylbutanoic acid
(2S)-2-amino-3-methyl-3-sulfanyl-butanoic acid
(D)-PENICILLAMINE
(S)-3,3-Dimethylcysteine
(S)-Penicillamin
(S)-Penicillamine
16414-54-3
2-Amino-3-mercapto-3-methylbutanoic acid
2-amino-3-Mercapto-3-methylbutyric acid
3,3-Dimethyl-D-cysteine
3,3-Dimethylcysteine
3-Mercapto-D-valine
3-Mercaptovaline
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,L-Penicillamine
D-(-)-2-Amino-3-mercapto-3-methylbutanoic acid
D-(-)-Penicillamine
D-3-Mercaptovaline
D-Mercaptovaline
D-Penamine
D-Penicilamine
D-Penicillamine
D-Penicyllamine
D-beta,beta-Dimethylcysteine
D-beta-Mercaptovaline
D00496
D010396
DB00859
DL-3-Mercaptovaline
DL-beta-Mercaptovaline
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
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
Pénicillamine
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-Mercaptovaline
beta-Thiovaline
d,3-Mercaptovaline
penicillamine
β-Mercaptovaline
6
Tolvaptanapproved84150683-30-0216237, 443894
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
7Protective Agents5651
8Antirheumatic Agents8496
9Chelating Agents667
10Anesthetics7385
11Vasopressins260
12Hormones11748
13Natriuretic Agents1403
14Arginine Vasopressin264
15NoniNutraceutical9

Interventional clinical trials:

(show all 12)
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
3Effect of Increasing Doses of Cystine Binding Thiol Drugs on Cystine Capacity in Patients With CystinuriaRecruitingNCT02125721
4Rare Kidney Stone Consortium Patient RegistryRecruitingNCT00588562
5Rare Kidney Stone Consortium BiobankRecruitingNCT02026388
6Prospective Research Rare Kidney Stones (ProRKS)RecruitingNCT02780297
7Cystine Capacity Clinical Study (CysCap)RecruitingNCT02120105
8Health-related Quality of Life in Rare Kidney StoneRecruitingNCT02124395
9Randall's Plaque Study: Pathogenesis and Relationship to NephrolithiasisRecruitingNCT00169806
10TCUPS- Tolvaptan Use in Cyctinuria and Urolithiasis: A Pilot StudyNot yet recruitingNCT02538016
11PREPL in Health and DiseaseNot yet recruitingNCT02263781
12Genetic Study of Nephrolithiasis in Gouty DiathesisTerminatedNCT00149305

Search NIH Clinical Center for Cystinuria

Inferred drug relations via UMLS65/NDF-RT43:


Cochrane evidence based reviews: cystinuria

Genetic Tests for Cystinuria

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Genetic tests related to Cystinuria:

id Genetic test Affiliating Genes
1 Cystinuria22 SLC7A9, SLC3A1

Anatomical Context for Cystinuria

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MalaCards organs/tissues related to Cystinuria:

33
Kidney, Neutrophil, Bone, Endothelial, Liver, T cells, Prostate

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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.0ADCY10, CAMKMT, OAT, SLC3A1, SLC3A2, SLC6A18

Publications for Cystinuria

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Articles related to Cystinuria:

(show top 50)    (show all 532)
idTitleAuthorsYear
1
Periodontitis associated with osteomalacia. (25425827)
2014
2
HIV antibodies. Antigen modification regulates competition of broad and narrow neutralizing HIV antibodies. (25504724)
2014
3
Recruitment of Nox4 to a plasma membrane scaffold is required for localized reactive oxygen species generation and sustained Src activation in response to insulin-like growth factor-I. (23612968)
2013
4
Clinical significance of phospholipase A2 group IIA (PLA2G2A) expression in primary resected esophageal squamous cell carcinoma. (23609358)
2013
5
Giant aorto-pulmonary collaterals in pulmonary atresia and ventricular septal defect: long-term survival in unoperated adults. (23318939)
2013
6
Report of break-out session: Management of sequelae of Legg-CalvAc-Perthes disease. (23054517)
2012
7
Recurrent Corneal Erosion Syndrome. (26107728)
2012
8
A novel mutation (p.Glu1389AspfsX16) of the phosphoinositide kinase, FYVE finger containing gene found in a Japanese patient with fleck corneal dystrophy. (23288988)
2012
9
Diagnosis of cyst infection in patients with autosomal dominant polycystic kidney disease: attributes and limitations of the current modalities. (23114901)
2012
10
Coxsackievirus B5, associated with neurological hand, foot and mouth disease, China. (22484273)
2012
11
Daily phosphodiesterase type 5 inhibitor therapy as rescue for recurrent ischemic priapism after failed androgen ablation. (21127306)
2011
12
The transcriptional repressor Kaiso localizes at the mitotic spindle and is a constituent of the pericentriolar material. (20169156)
2010
13
Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: an international collaborative study. (20685857)
2010
14
Endometriosis is associated with progesterone resistance in the baboon (Papio anubis) oviduct: evidence based on the localization of oviductal glycoprotein 1 (OVGP1). (18923157)
2009
15
Additive role of tiotropium in severe asthmatics and Arg16Gly in ADRB2 as a potential marker to predict response. (19183167)
2009
16
Ascending thoracic aortic aneurysms are associated with compositional remodeling and vessel stiffening but not weakening in age-matched subjects. (19154911)
2009
17
Inflammatory cytokine gene variants in coronary artery disease patients in Greece. (19005292)
2008
18
The role of interleukin-18 in renal injury. (17658553)
2008
19
Intrasacral extradural arachnoid cysts. (18497497)
2008
20
Self-diagnosis of active head lice infestation by individuals from an impoverished community: high sensitivity and specificity. (18488093)
2008
21
Charcot-Marie-Tooth neuropathy type 1A combined with Duchenne muscular dystrophy. (17880576)
2007
22
Leucine stimulates procollagen alpha1(I) translation on hepatic stellate cells through ERK and PI3K/Akt/mTOR activation. (16897753)
2006
23
Nickel, cobalt, chromium, palladium and gold induce a mixed Th1- and Th2-type cytokine response in vitro in subjects with contact allergy to the respective metals. (17100760)
2006
24
De-novo design of complementary (antisense) peptide mini-receptor inhibitor of interleukin 18 (IL-18). (15482857)
2004
25
Coagulation, fibrinolysis, and recanalization after acute deep venous thrombosis. (11854725)
2002
26
Survival with hypopituitarism from congenital syphilis. (11927736)
2002
27
Up-regulation of cyclin-dependent kinase 4/cyclin D2 expression but down-regulation of cyclin-dependent kinase 2/cyclin E in testicular germ cell tumors. (11358847)
2001
28
Preterm infants with athetoid cerebral palsy: kernicterus? (11207234)
2001
29
Neurologic variant of epidermal nevus syndrome with a facial lipoma. (11422522)
2001
30
Differentiation of Langerhans cells in Langerhans cell histiocytosis. (11222366)
2001
31
Macrophage-derived MT1-MMP and increased MMP-2 activity are associated with glomerular damage in crescentic glomerulonephritis. (10878552)
2000
32
Differential modulation of N-type 1B and P/Q-type 1A calcium channels by different G protein subunit isoforms. (10970423)
2000
33
Enhancement of the HIV-1 inhibitory activity of RANTES by modification of the N-terminal region: dissociation from CCR5 activation. (11093134)
2000
34
Temporal expression of the transgenic human protamine gene cluster. (10202889)
1999
35
Somatostatin-dependent adenylyl cyclase activity in nonactivated and mitogen-activated human T cells: evidence for uncoupling of sst3 receptor from adenylyl cyclase. (10022504)
1999
36
Do dietary phytochemicals with cytochrome P-450 enzyme-inducing activity increase high-density-lipoprotein concentrations in humans? (8901789)
1996
37
Fibrinolytic system in plasma and pleural fluid in malignant pleural mesothelioma. (8897701)
1996
38
An autosomal dominant retinitis pigmentosa family with close linkage to D7S480 on 7q. (7635473)
1995
39
Study on clinical and endocrine characteristics of dexamethasone-suppressible hyperaldosteronism compared with those in primary aldosteronism owing to aldosterone-producing adenoma. (2552725)
1989
40
Sequence of a cDNA clone encompassing the complete mature human prostate specific antigen (PSA) and an unspliced leader sequence. (2456523)
1988
41
A practical radiologic approach to skeletal dysplasias in infancy. (3118409)
1987
42
Vein of Galen aneurysm - diagnosis by real-time ultrasound. (7328101)
1981
43
Isolated azygos continuation of the inferior vena cava. (451178)
1979
44
Gastrointestinal bleeding and iron absorption in the experimental blind loop syndrome. (1084685)
1976
45
Multiple keratocysts of the jaws as a manifestation of the nevoid basal cell carcinoma syndrome: report of a case and its surgical management. (1075799)
1975
46
Intravascular angiomatosis: development and distinction from angiosarcoma. (1237350)
1975
47
Colchicine-induced heteroploidy in the mouse. I. The induction of triploidy by treatment of the gametes. (13575741)
1958
48
49
50

Variations for Cystinuria

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UniProtKB/Swiss-Prot genetic disease variations for Cystinuria:

67 (show all 83)
id Symbol AA change Variation ID SNP ID
1SLC3A1p.Pro128GlnVAR_011420
2SLC3A1p.Arg181GlnVAR_011421
3SLC3A1p.Glu268LysVAR_011422
4SLC3A1p.Thr341AlaVAR_011423
5SLC3A1p.Arg365TrpVAR_011424
6SLC3A1p.Arg452TrpVAR_011425
7SLC3A1p.Tyr461HisVAR_011426rs144162964
8SLC3A1p.Met467ThrVAR_011427
9SLC3A1p.Met467LysVAR_011428
10SLC3A1p.Tyr582HisVAR_011429
11SLC3A1p.Pro615ThrVAR_011430
12SLC3A1p.Phe648SerVAR_011432
13SLC3A1p.Thr652ArgVAR_011433
14SLC3A1p.Leu678ProVAR_011434
15SLC3A1p.Thr216MetVAR_022600
16SLC3A1p.Arg362CysVAR_022601
17SLC3A1p.Pro508AlaVAR_022602
18SLC3A1p.Tyr151CysVAR_038200
19SLC3A1p.Asn253LysVAR_038201
20SLC3A1p.Arg362HisVAR_038202
21SLC3A1p.Gly398ArgVAR_038203
22SLC3A1p.Gly481ValVAR_038204
23SLC3A1p.Glu482LysVAR_038205
24SLC3A1p.Gln510ArgVAR_038206
25SLC3A1p.Arg584ThrVAR_038207
26SLC3A1p.Phe599SerVAR_038208
27SLC3A1p.Gly600GluVAR_038209
28SLC3A1p.Pro122SerVAR_064040
29SLC3A1p.Leu89ProVAR_072283
30SLC3A1p.Met123ArgVAR_072284
31SLC3A1p.Tyr124CysVAR_072285
32SLC3A1p.Ser130ProVAR_072286
33SLC3A1p.Asp137GlyVAR_072287
34SLC3A1p.Gly140ArgVAR_072288
35SLC3A1p.Leu149GlnVAR_072289
36SLC3A1p.Asp179TyrVAR_072290
37SLC3A1p.Thr189MetVAR_072292
38SLC3A1p.His348ProVAR_072294
39SLC3A1p.Arg365ProVAR_072295
40SLC3A1p.Asn410LysVAR_072296
41SLC3A1p.Pro441ArgVAR_072297
42SLC3A1p.Arg452GlnVAR_072299
43SLC3A1p.Ser455LeuVAR_072300
44SLC3A1p.Arg456CysVAR_072301
45SLC3A1p.Arg456HisVAR_072302
46SLC3A1p.Ser507LeuVAR_072303
47SLC3A1p.Ser547TrpVAR_072304
48SLC3A1p.Gly568SerVAR_072305
49SLC3A1p.Cys666TrpVAR_072306
50SLC7A9p.Gly105ArgVAR_010256rs121908480
51SLC7A9p.Val170MetVAR_010257
52SLC7A9p.Ala182ThrVAR_010258rs79389353
53SLC7A9p.Gly195ArgVAR_010259
54SLC7A9p.Gly259ArgVAR_010260
55SLC7A9p.Ile44ThrVAR_014363
56SLC7A9p.Pro261LeuVAR_014364
57SLC7A9p.Ala354ThrVAR_014365
58SLC7A9p.Val330MetVAR_015885
59SLC7A9p.Pro52LeuVAR_018998
60SLC7A9p.Gly63ArgVAR_018999
61SLC7A9p.Trp69LeuVAR_019000
62SLC7A9p.Ala70ValVAR_019001
63SLC7A9p.Thr123MetVAR_019002rs79987078
64SLC7A9p.Ala126ThrVAR_019003
65SLC7A9p.Ile187PheVAR_019005
66SLC7A9p.Trp230ArgVAR_019008
67SLC7A9p.Ile241ThrVAR_019009
68SLC7A9p.Arg333TrpVAR_019011
69SLC7A9p.Ser379ArgVAR_019012
70SLC7A9p.Ala382ThrVAR_019013
71SLC7A9p.Ala224ValVAR_022603
72SLC7A9p.Ala331ValVAR_022604
73SLC7A9p.Val62MetVAR_072310
74SLC7A9p.Gly105GluVAR_072312
75SLC7A9p.Val188MetVAR_072315rs531029519
76SLC7A9p.Asn227AspVAR_072316
77SLC7A9p.Tyr232CysVAR_072317
78SLC7A9p.Arg250LysVAR_072318
79SLC7A9p.Leu283PheVAR_072319
80SLC7A9p.Ala316ValVAR_072321
81SLC7A9p.Gly319ArgVAR_072322
82SLC7A9p.Arg333GlnVAR_072324
83SLC7A9p.Pro482LeuVAR_072327rs146815072

Clinvar genetic disease variations for Cystinuria:

5 (show all 25)
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 pathogenicrs797044609GRCh37Chr 2, 44531420: 44531421
10SLC3A1NM_000341.3(SLC3A1): c.1597T> A (p.Tyr533Asn)single nucleotide variantPathogenicrs387907276GRCh37Chr 2, 44541070: 44541070
11SLC7A9NM_014270.4(SLC7A9): c.508G> A (p.Val170Met)single nucleotide variantPathogenicrs121908479GRCh37Chr 19, 33353463: 33353463
12SLC7A9NM_014270.4(SLC7A9): c.313G> A (p.Gly105Arg)single nucleotide variantPathogenicrs121908480GRCh37Chr 19, 33355167: 33355167
13SLC7A9NM_014270.4(SLC7A9): c.544G> A (p.Ala182Thr)single nucleotide variantLikely pathogenic, Pathogenicrs79389353GRCh37Chr 19, 33353427: 33353427
14SLC7A9NM_014270.4(SLC7A9): c.583G> A (p.Gly195Arg)single nucleotide variantPathogenicrs121908482GRCh37Chr 19, 33353388: 33353388
15SLC7A9NM_014270.4(SLC7A9): c.775G> A (p.Gly259Arg)single nucleotide variantPathogenicrs121908483GRCh37Chr 19, 33350845: 33350845
16SLC7A9SLC7A9, 2-BP DEL, 596TGdeletionPathogenic
17SLC7A9SLC7A9, 1-BP INS, 520TinsertionPathogenic
18SLC7A9NM_014270.4(SLC7A9): c.997C> T (p.Arg333Trp)single nucleotide variantPathogenicrs121908484GRCh37Chr 19, 33334838: 33334838
19SLC7A9NM_014270.4(SLC7A9): c.131T> C (p.Ile44Thr)single nucleotide variantPathogenicrs121908485GRCh37Chr 19, 33355639: 33355639
20SLC7A9NM_014270.4(SLC7A9): c.782C> T (p.Pro261Leu)single nucleotide variantPathogenicrs121908486GRCh37Chr 19, 33350838: 33350838
21SLC7A9SLC7A9, 1-BP INS, 799AinsertionPathogenic
22SLC7A9NM_014270.4(SLC7A9): c.695A> G (p.Tyr232Cys)single nucleotide variantPathogenicrs121908487GRCh37Chr 19, 33353033: 33353033
23SLC7A9SLC7A9, 789+2T-Csingle nucleotide variantPathogenic
24SLC7A9NM_014270.4(SLC7A9): c.368C> T (p.Thr123Met)single nucleotide variantPathogenicrs79987078GRCh37Chr 19, 33355112: 33355112
25SLC7A9SLC7A9, IVS5AS, C-A, -3single nucleotide variantPathogenic

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
19.1SLC3A2, SLC7A10, SLC7A11, SLC7A7, SLC7A9
2
Show member pathways
9.1SLC3A2, SLC7A10, SLC7A11, SLC7A7, SLC7A9
38.9SLC1A5, SLC3A1, SLC3A2, SLC7A7, SLC7A9
4
Show member pathways
7.4SLC1A4, SLC1A5, SLC3A1, SLC3A2, SLC6A18, SLC7A10

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
1motile ciliumGO:00315149.5ADCY10, CEP89
2melanosomeGO:00424709.2SLC1A4, SLC1A5, SLC3A2

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

idNameGO IDScoreTop Affiliating Genes
1amino acid transmembrane transportGO:000333310.4SLC6A18, SLC7A10
2dicarboxylic acid transportGO:00068359.9SLC1A4, SLC1A5
3amino acid transportGO:00068659.9SLC1A4, SLC7A7, SLC7A9
4glutamine transportGO:00068689.9SLC1A4, SLC1A5
5ion transportGO:00068118.5SLC1A4, SLC1A5, SLC3A1, SLC3A2, SLC7A10, SLC7A9
6transmembrane transportGO:00550857.6SLC1A4, SLC1A5, SLC3A1, SLC6A18, SLC7A10, SLC7A11

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

idNameGO IDScoreTop Affiliating Genes
1antiporter activityGO:001529710.0SLC7A10, SLC7A9
2amino acid transmembrane transporter activityGO:00151718.2SLC1A5, SLC3A1, SLC6A18, SLC7A10, SLC7A11, SLC7A9

Sources for Cystinuria

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet