Aliases & Classifications for Aminoaciduria

About this section

Aliases & Descriptions for Aminoaciduria:

Name: Aminoaciduria 45 47 65

Classifications:



External Ids:

UMLS65 C0238621

Summaries for Aminoaciduria

About this section
Wikipedia:68 Aminoaciduria is the presence of amino acids in the urine. Small amounts of amino acids are also present... more...

MalaCards based summary: Aminoaciduria is related to dicarboxylic aminoaciduria and inborn renal aminoaciduria. An important gene associated with Aminoaciduria is SLC6A19 (Solute Carrier Family 6 Member 19), and among its related pathways are Dichloroethylene metabolism and Hepatic ABC Transporters. Affiliated tissues include kidney, liver and lung, and related mouse phenotypes are adipose tissue and liver/biliary system.

Related Diseases for Aminoaciduria

About this section

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

(show top 50)    (show all 172)
idRelated DiseaseScoreTop Affiliating Genes
1dicarboxylic aminoaciduria12.5
2inborn renal aminoaciduria12.3
3dibasic aminoaciduria 112.3
4hyperdibasic aminoaciduria type 112.3
5lysinuric protein intolerance12.0
6gracile syndrome11.9
7hartnup disorder11.6
8rowley-rosenberg syndrome11.3
9mental retardation, x-linked syndromic, raymond type10.3CLCN5, OCRL
10isolated agammaglobulinemia10.3EHHADH, SLC34A1
11fanconi renotubular syndrome 310.2
12fanconi renotubular syndrome 210.2
13interstitial lung and liver disease10.2
14fanconi renotubular syndrome 110.2
15fanconi renotubular syndrome 4, with maturity-onset diabetes of the young10.2
16dent disease10.2
17dent disease 210.2
18lowe syndrome10.2
19oculocerebrorenal syndrome10.2
20fanconi syndrome10.2
21proximal renal tubular acidosis10.2
22breast cancer10.2
23retinitis10.2
24fragile x syndrome10.2CLCN5, OCRL
25pulmonary fibrosis and/or bone marrow failure, telomere-related, 110.1SLC6A19, TMEM27
26monomelic amyotrophy10.1HNF1A, HNF4A
27colorectal cancer10.1
28myelodysplastic syndrome10.1
29deficiency anemia10.1
30arthritis10.1
31glomerulonephritis10.1
32leukemia10.1
33lymphoma10.1
34sarcoma10.1
35iron deficiency anemia10.1
36prostatitis10.1
37dermatitis10.1
38pancreatitis10.1
39thyroiditis10.1
40cardiomyopathy10.1
41chromophobe adenocarcinoma10.0CLCN5, OCRL
42rheumatoid arthritis10.0
43neuroblastoma10.0
44myocardial infarction10.0
45neural tube defects10.0
46atopy10.0
47hiv-110.0
48prostate cancer10.0
49hepatitis c virus10.0
50allergic rhinitis10.0

Graphical network of the top 20 diseases related to Aminoaciduria:



Diseases related to aminoaciduria

Symptoms for Aminoaciduria

About this section

Drugs & Therapeutics for Aminoaciduria

About this section

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

(show all 18)
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
4potassium phosphatePhase 1, Phase 210
5Calcium, DietaryPhase 1, Phase 24678
6Anti-Infective AgentsPhase 217220
7Phosphorus SupplementNutraceuticalPhase 1, Phase 23
8
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
9
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
10Protective Agents5651
11Antirheumatic Agents8496
12Chelating Agents667
13Vasopressins260
14Anesthetics7385
15Natriuretic Agents1403
16Arginine Vasopressin264
17Hormones11748
18NoniNutraceutical9

Interventional clinical trials:

(show all 12)
idNameStatusNCT IDPhase
1Use of an Herbal Preparation to Prevent and Dissolve Kidney StonesCompletedNCT00381849Phase 1, Phase 2
2Role Of Phosphorus And FGF 23 In Patients With Dent DiseaseRecruitingNCT02016235Phase 1, Phase 2
3Sulfamethoxazole for the Treatment of Primary PREPL DeficiencyEnrolling by invitationNCT02640443Phase 2
4Cystine Capacity Clinical Study (CysCap)RecruitingNCT02120105
5Prospective Research Rare Kidney Stones (ProRKS)RecruitingNCT02780297
6Effect of Increasing Doses of Cystine Binding Thiol Drugs on Cystine Capacity in Patients With CystinuriaRecruitingNCT02125721
7Health-related Quality of Life in Rare Kidney StoneRecruitingNCT02124395
8Rare Kidney Stone Consortium BiobankRecruitingNCT02026388
9Rare Kidney Stone Consortium Patient RegistryRecruitingNCT00588562
10Randall's Plaque Study: Pathogenesis and Relationship to NephrolithiasisRecruitingNCT00169806
11TCUPS- Tolvaptan Use in Cyctinuria and Urolithiasis: A Pilot StudyNot yet recruitingNCT02538016
12PREPL in Health and DiseaseNot yet recruitingNCT02263781

Search NIH Clinical Center for Aminoaciduria

Genetic Tests for Aminoaciduria

About this section

Anatomical Context for Aminoaciduria

About this section

MalaCards organs/tissues related to Aminoaciduria:

33
Kidney, Liver, Lung, Breast, Prostate, Brain, Skeletal muscle

Animal Models for Aminoaciduria or affiliated genes

About this section

MGI Mouse Phenotypes related to Aminoaciduria:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.0HNF1A, SLC3A1, SLC5A2, SLC6A19, TMEM27
2MP:00053708.6B2M, BCS1L, CLCN5, EHHADH, HNF1A, HNF4A
3MP:00053677.3BCS1L, CLCN5, HNF1A, OCRL, SLC1A1, SLC34A1
4MP:00053847.2ABCB6, B2M, BCS1L, CLCN5, EHHADH, HNF1A
5MP:00053786.3B2M, BCS1L, CLCN5, EHHADH, HNF1A, HNF4A
6MP:00053765.1ABCB6, B2M, BCS1L, CLCN5, EHHADH, HNF1A

Publications for Aminoaciduria

About this section

Articles related to Aminoaciduria:

(show top 50)    (show all 195)
idTitleAuthorsYear
1
Somatic genomic alterations in retinoblastoma beyond RB1 are rare and limited to copy number changes. (27126562)
2016
2
PRIMARY HYPERPARATHYROIDISM, WITH A FOCUS ON MANAGMENT OF THE NORMOCALCEMIC FORM. TO TREAT OR NOT TO TREAT? (26523628)
2015
3
The 60- and 70-kDa heat-shock proteins and their correlation with cardiovascular risk factors in postmenopausal women with metabolic syndrome. (24327239)
2014
4
The calcium-sensing receptor R990G polymorphism is associated with increased risk of hypertriglyceridemia in obese Chinese. (24120622)
2014
5
Hereditary and Histologic Characteristics of the CF1/b cac Mouse Cataract Model. (25402176)
2014
6
Aqueous fraction of Sauropus androgynus might be responsible for bronchiolitis obliterans. (23062110)
2013
7
Hyperglycemia, hypoglycemia and dementia: role of mitochondria and uncoupling proteins. (22934852)
2013
8
Tardive dyskinesia in schizophrenia. (23818532)
2013
9
Marked improvement in opsoclonus and cerebellar ataxia after the surgical removal of a squamous cell carcinoma of the thymus: a case report. (23235139)
2013
10
Stem cell markers aldehyde dehydrogenase type 1 and nestin expressions in renal cell cancer. (22649953)
2012
11
Bats worldwide carry hepatitis E virus-related viruses that form a putative novel genus within the family Hepeviridae. (22696648)
2012
12
Proton therapy versus photon radiation therapy for the management of a recurrent desmoid tumor of the right flank: a case report. (23098082)
2012
13
Childhood abuse, the BDNF-Val66Met polymorphism and adult psychotic-like experiences. (21719879)
2011
14
The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy. (21708901)
2011
15
The effect of pain on stroop performance in patients with opiate dependence in sustained remission. (21769047)
2011
16
Novel links among Wnt and TGF-beta signaling and Runx2. (20093419)
2010
17
A new aspect of the TrkB signaling pathway in neural plasticity. (20514207)
2009
18
Ultrastructural immunolocalization of a cartilage-specific proteoglycan, aggrecan, in salivary pleomorphic adenomas. (19294492)
2009
19
Pharmacology of the intracellular pathways activated by amyloid beta protein. (19519498)
2009
20
Washing of drained blood does not alter immediate immune effects of retransfusion. (18764823)
2008
21
Mammaglobin B expression in human endometrial cancer. (18021217)
2008
22
Divergent cell signaling after short-term intensified endurance training in human skeletal muscle. (18827172)
2008
23
Peritoneal recurrence of gastric cancer with mucin phenotype 12 years after curative resection: report of a case. (17387567)
2007
24
Metastatic esophageal carcinoma masquerading as inflammatory breast carcinoma. (17343591)
2007
25
Apoptosis and inactivation of the PI3-kinase pathway by tetrocarcin A in breast cancers. (17350598)
2007
26
Functional and biochemical characterization of epithelial bactericidal/permeability-increasing protein. (16282362)
2006
27
Corticotropin-releasing factor and Urocortin I modulate excitatory glutamatergic synaptic transmission. (15102917)
2004
28
Neuronal COX-2 expression and phosphorylation of pRb precede p38 MAPK activation and neurofibrillary changes in AD temporal cortex. (15056456)
2004
29
The comparison of expression of cutaneous lymphocyte-associated antigen (CLA), and Th1- and Th2-associated antigens in mycosis fungoides and cutaneous lesions of adult T-cell leukemia/lymphoma. (14721775)
2003
30
Mutations in the hemochromatosis gene (HFE) and stroke. (12364722)
2002
31
Fetal monolateral urinoma and neonatal renal function outcome in posterior urethral valves obstruction: the pop-off mechanism. (12494545)
2002
32
Image cytometric bcl-2:bax and bcl-2:bcl-x ratios in invasive breast carcinoma: correlation with prognosis. (12210599)
2002
33
Human cyritestin genes (CYRN1 and CYRN2) are non-functional. (11439107)
2001
34
A cluster of Ser/Thr residues at the C-terminus of mu-opioid receptor is required for G protein-coupled receptor kinase 2-mediated desensitization. (10698001)
2000
35
Xenobiotic-metabolizing cytochrome P450 enzymes in the human feto-placental unit: role in intrauterine toxicity. (9493761)
1998
36
Relationship of increased body weight, androgens, insulin and family history of hypertension with blood pressure in premenopausal women]. (9656221)
1998
37
The phosphorylation pattern of oligosaccharides in secreted procathepsin D is glycosylation site-specific and independent of the expression of mannose 6-phosphate receptors. (8995373)
1997
38
Ameliorative effect of MK-801 on retinal ischemia. (9090613)
1997
39
Semi-automated radioassay for determination of dihydropyrimidine dehydrogenase (DPD) activity. Screening cancer patients for DPD deficiency, a condition associated with 5-fluorouracil toxicity. (9323539)
1997
40
Gaucher disease: identification of three new mutations in the Korean and Chinese (Taiwanese) populations. (8829654)
1996
41
Epithelially derived endothelin and nitric oxide in asthma. (7542073)
1995
42
Role of cyclosporine in glomerular diseases. (7955309)
1994
43
Nosocomial salmonellosis. (7693145)
1993
44
Chondrodysplasia punctata: further evidence of heterogeneity. (1342864)
1992
45
Differential regulation of the N-myc gene in transfected cells and transgenic mice. (2183019)
1990
46
Viral encephalitis. (2195341)
1990
47
Pulmonary interstitial emphysema in infants less than 1000 g at birth. (3767787)
1986
48
The mode of development of an inherited form of anencephaly in the house mouse. (7242851)
1981
49
Malignant hypertension. (533822)
1979
50

Variations for Aminoaciduria

About this section

Expression for genes affiliated with Aminoaciduria

About this section
Search GEO for disease gene expression data for Aminoaciduria.

Pathways for genes affiliated with Aminoaciduria

About this section

GO Terms for genes affiliated with Aminoaciduria

About this section

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

idNameGO IDScoreTop Affiliating Genes
1endocrine pancreas developmentGO:003101810.3HNF1A, HNF4A
2response to cadmium ionGO:00466869.9B2M, SLC34A1
3ion transportGO:00068119.0SLC1A1, SLC34A1, SLC3A1, SLC6A19, SLC7A9
4transmembrane transportGO:00550858.7CLCN5, SLC1A1, SLC34A1, SLC3A1, SLC6A19, SLC7A9

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II core promoter sequence-specific DNA bindingGO:00009799.9HNF1A, HNF4A
2amino acid transmembrane transporter activityGO:00151719.5SLC1A1, SLC3A1, SLC6A19, SLC7A9

Sources for Aminoaciduria

About this section
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