Aliases & Classifications for Aminoaciduria

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Aliases & Descriptions for Aminoaciduria:

Name: Aminoaciduria 45 47 65

Classifications:



External Ids:

UMLS65 C0238621

Summaries for Aminoaciduria

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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, and has symptoms including traumatic hematuria, pneumatouria and chyluria. 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 liver, kidney and lung, and related mouse phenotypes are adipose tissue and liver/biliary system.

Related Diseases for Aminoaciduria

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

(show top 50)    (show all 84)
idRelated DiseaseScoreTop Affiliating Genes
1dicarboxylic aminoaciduria12.3
2inborn renal aminoaciduria11.9
3dibasic aminoaciduria 111.9
4hyperdibasic aminoaciduria type 111.9
5lysinuric protein intolerance11.6
6gracile syndrome11.5
7hartnup disorder11.2
8rowley-rosenberg syndrome10.9
9fanconi syndrome10.5
10mental retardation, x-linked syndromic, raymond type10.5CLCN5, OCRL
11isolated agammaglobulinemia10.4EHHADH, SLC34A1
12fragile x syndrome10.2CLCN5, OCRL
13pulmonary fibrosis and/or bone marrow failure, telomere-related, 110.2SLC6A19, TMEM27
14monomelic amyotrophy10.2HNF1A, HNF4A
15rickets10.1
16muscular dystrophy10.1
17chromophobe adenocarcinoma10.1CLCN5, OCRL
18nephrotic syndrome10.0
19progressive muscular dystrophy10.0
20ataxia10.0
21cerebellar ataxia9.9
22kwashiorkor9.9
23lactic acidosis9.9
24dwarfism9.9
25cystinuria9.8
26renal glucosuria9.8
27cataract9.8
28hepatitis9.8
29renal tubular acidosis9.8
30cholestasis9.8
31pancreatitis9.8
32fanconi renotubular syndrome 39.8
33fanconi renotubular syndrome 29.8
34interstitial lung and liver disease9.8
35fanconi renotubular syndrome 19.8
36fanconi renotubular syndrome 4, with maturity-onset diabetes of the young9.8
37dent disease9.8
38dent disease 29.8
39lowe syndrome9.8
40oculocerebrorenal syndrome9.8
41proximal renal tubular acidosis9.8
42neuromyelitis optica9.8CLCN5, SLC34A1, SLC3A1
43osteoporosis9.7
44multiple myeloma9.7
45phenylketonuria9.7
46marfan syndrome9.7
47hypophosphatemic rickets9.7
48scurvy9.7
49angina pectoris9.7
50glomerulonephritis9.7

Graphical network of the top 20 diseases related to Aminoaciduria:



Diseases related to aminoaciduria

Symptoms for Aminoaciduria

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UMLS symptoms related to Aminoaciduria:


traumatic hematuria, pneumatouria, chyluria

Drugs & Therapeutics for Aminoaciduria

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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

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Anatomical Context for Aminoaciduria

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MalaCards organs/tissues related to Aminoaciduria:

33
Liver, Kidney, Lung, Prostate, Breast, Thyroid, Bone

Animal Models for Aminoaciduria or affiliated genes

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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

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Articles related to Aminoaciduria:

(show top 50)    (show all 196)
idTitleAuthorsYear
1
Imatinib mesylate induces massive and nonspecific aminoaciduria in CML patients. (22287505)
2012
2
Aminoaciduria and altered renal expression of luminal amino acid transporters in mice lacking novel gene collectrin. (16985211)
2007
3
A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria. (15610225)
2005
4
Glutamate transporter EAAC-1-deficient mice develop dicarboxylic aminoaciduria and behavioral abnormalities but no neurodegeneration. (9233792)
1997
5
Aminoaciduria as a marker of acute renal transplant rejection--a patient study. (1905600)
1991
6
Aminoaciduria due to vinyl-GABA administration. (2215628)
1990
7
Aminoaciduria of severe trauma. (2718916)
1989
8
An unusual case of Morquio's syndrome with aminoaciduria. (6418710)
1983
9
Dipropylacetate and aminoaciduria. (6766992)
1980
10
Effect of calciotropic hormones and cyclic nucleotides on aminoaciduria and phosphaturia. (6247689)
1980
11
Maleic acid induced aminoaciduria, studied by free flow micropuncture and continuous microperfusion. (574260)
1979
12
Dicarboxylic aminoaciduria: an inborn error of amino acid conservation. (894411)
1977
13
A study of aminoacidemia and aminoaciduria in epileptic children. (1024264)
1976
14
D-serine nephrotoxicity. The nature of proteinuria, glucosuria, and aminoaciduria in acute tubular necrosis. (1203037)
1975
15
Aminoaciduria and proteinuria in rats after a single intraperitoneal injection of Ni(II). (1209637)
1975
16
Effect of vitamin D deficiency on aminoaciduria and intestinal transport of amino acids in the rat. (4425997)
1974
17
A case of renal tubular acidosis with secondary hyperparathyroidism, lipemia and aminoaciduria with review of Japanese literature. (4459115)
1974
18
Bogus branched-chain aminoaciduria. (4701801)
1973
19
Aminoaciduria in Japanese workers in the lead and cadmium industries. (5025608)
1972
20
Aminoaciduria. (5436525)
1970
21
Iatrogenic aminoaciduria. (4098696)
1970
22
Aminoaciduria in a homocystinuric family. (5358562)
1969
23
Aminoaciduria in pernicious anaemia. (5365352)
1969
24
Hereditary granular corneal dystrophy and associated aminoaciduria. (4924455)
1969
25
Aminoaciduria in xeroderma pigmentosum. (4185294)
1968
26
Aminoaciduria-renal transport. (4865975)
1968
27
Significance of aminoaciduria in Indian childhood cirrhosis. (5594808)
1967
28
Bilateral renal calculi and aminoaciduria after excessive intake of Worcestershire sauce. (4166338)
1967
29
Aminoaciduria. (5327155)
1966
30
The abnormal aminoaciduria in petit mal epilepsy. Further observations in 40 patients and 38 healthy controls. (4957014)
1966
31
Chromatographic studies of aminoaciduria in rickets. (5920143)
1966
32
A STUDY OF CARBON TETRACHLORIDE. VI. AMINOACIDURIA IN RESPONSE TO CARBON TETRACHLORIDE INHALATION. (14105902)
1964
33
AMINOACIDURIA AFTER DIETARY LOADING IN HUMAN SUBJECTS. (14127946)
1964
34
Aminoaciduria as a manifestation of renal tubular injury in lead intoxication and a comparison with patterns of aminoaciduria seen in other diseases. (13879030)
1962
35
Familial aminoaciduria in osteogenesis imperfecta. (13879232)
1962
36
Excretion of D- and L-methionine in children with generalized aminoaciduria. (14486427)
1961
37
A rapid spot test for the determination of cystinuria and aminoaciduria. (13893181)
1961
38
Aminoaciduria in various types of rickets. A study by the high voltage electrophoretic technique. (13781573)
1960
39
Transient aminoaciduria in severe potassium depletion. (13814350)
1960
40
Significance of lactose in the diet in aminoaciduria caused by maleic acid. (13793701)
1959
41
Critical evaluation of methods used in aminoaciduria investigation. (14428916)
1959
42
Cryoglobulinemia, macroglobulinemia, and the aminoaciduria which is sometimes associated with multiple myeloma. (13307228)
1956
43
Abnormalities of copper metabolism in Wilson's disease and their relationship to the aminoaciduria. (13143088)
1954
44
Aminoaciduria in galactosaemia. (13180338)
1954
45
Chromatographic studies of aminoaciduria in childhood. (13161939)
1954
46
Experimental production of renal glycosuria, phosphaturia, and aminoaciduria by injection of maleic acid. (13205194)
1954
47
Cystine storage disease with aminoaciduria and dwarfism; Lignac-Fanconi disease. (13113939)
1953
48
A new method for qualitative and quantitative study of aminoaciduria by paper chromatography. (13033888)
1952
49
Aminoaciduria in progressive muscular dystrophy. (18863698)
1948
50

Variations for Aminoaciduria

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Expression for genes affiliated with Aminoaciduria

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Search GEO for disease gene expression data for Aminoaciduria.

Pathways for genes affiliated with Aminoaciduria

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GO Terms for genes affiliated with Aminoaciduria

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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

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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