MCID: AMN006
MIFTS: 40

Aminoaciduria malady

Category: Rare diseases

Aliases & Classifications for Aminoaciduria

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Aliases & Descriptions for Aminoaciduria:

Name: Aminoaciduria 48 27 50 68

Classifications:



Summaries for Aminoaciduria

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Wikipedia:71 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 Amino acid transport across the plasma membrane. Affiliated tissues include liver, testes and kidney, and related mouse phenotypes are liver/biliary system and growth/size/body region.

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 78)
idRelated DiseaseScoreTop Affiliating Genes
1dicarboxylic aminoaciduria12.3
2inborn renal aminoaciduria11.8
3lysinuric protein intolerance11.6
4gracile syndrome11.6
5hartnup disorder11.5
6fanconi syndrome11.1
7cystinuria11.0
8dibasic amino aciduria i10.9
9lowe syndrome10.8
10rowley-rosenberg syndrome10.8
11fanconi renotubular syndrome 310.7
12fanconi renotubular syndrome 210.7
13interstitial lung and liver disease10.7
14fanconi renotubular syndrome 110.7
15fanconi renotubular syndrome 4, with maturity-onset diabetes of the young10.7
16dent disease10.7
17dent disease 210.7
18proximal renal tubular acidosis10.7
19diarrhea 5, with tufting enteropathy, congenital10.2SLC3A1, SLC7A9
20dyskeratosis congenita, autosomal dominant 210.0SLC6A19, TMEM27
21progeria variant syndrome ruvalcaba type10.0EHHADH, SLC34A1
22glycogen storage disease vii10.0MARS, MIR6758
23rickets9.9
24muscular dystrophy9.9
25nephrotic syndrome9.9
26progressive muscular dystrophy9.9
27ataxia9.9
28newborn respiratory distress syndrome9.8CLCN5, SLC34A1, SLC3A1
29cerebellar ataxia9.8
30kwashiorkor9.8
31epilepsy9.8
32lactic acidosis9.8
33dwarfism9.8
34renal glucosuria9.7
35cataract9.7
36hepatitis9.7
37renal tubular acidosis9.7
38cholestasis9.7
39pancreatitis9.7
40interstitial nephritis9.6CLCN5, EHHADH, HNF4A, OCRL, SLC34A1
41osteoporosis9.6
42multiple myeloma9.6
43phenylketonuria9.6
44marfan syndrome9.6
45hypophosphatemic rickets9.6
46scurvy9.6
47hyper-beta-alaninemia9.6
48angina pectoris9.6
49glomerulonephritis9.6
50lymphoma9.6

Graphical network of the top 20 diseases related to Aminoaciduria:



Diseases related to aminoaciduria

Symptoms & Phenotypes for Aminoaciduria

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.3B2M, BCS1L, CLCN5, EHHADH, HNF1A, HNF4A
2MP:00053787.1B2M, BCS1L, CLCN5, EHHADH, HNF1A, HNF4A
3MP:00053676.9BCS1L, CLCN5, HNF1A, OCRL, SLC1A1, SLC34A1
4MP:00053766.0ABCB6, B2M, BCS1L, CLCN5, EHHADH, HNF1A

Drugs & Therapeutics for Aminoaciduria

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

(show all 34)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
SulfamethoxazoleapprovedPhase 2161723-46-65329
Synonyms:
129378-89-8
3-(Para-Aminophenylsulphonamido)-5-methylisoxazole
3-(p-Aminobenzenesulfonamido)-5-methylisoxazole
3-(p-Aminophenylsulfonamido)-5-methylisoxazole
3-(para-Aminophenylsulphonamido)-5-methylisoxazole
3-Sulfanilamido-5-methylisoxazole
3-Sulphanilamido-5-methylisoxazole
4-Amino-N-(5-methyl-1,2-oxazol-3-yl)benzenesulfonamide
4-Amino-N-(5-methyl-3-isoxazolyl)-Benzenesulfonamide
4-Amino-N-(5-methyl-3-isoxazolyl)benzenesulfonamide
4-Amino-N-(5-methyl-isoxazol-3-yl)-benzenesulfonamide
4-Amino-N-[5-methyl-3- isoxazolyl]benzenesulfonamide
4-amino-N-(5-methyl-1,2-oxazol-3-yl)benzenesulfonamide
4-amino-N-(5-methylisoxazol-3-yl)benzenesulfonamide
46850_RIEDEL
5-Methyl-3-sulfanilamidoisoxazole
5-Methyl-3-sulfanylamidoisoxazole
5-Methyl-3-sulfonylamidoisoxazole
5-Methyl-3-sulphanil-amidoisoxazole
723-46-6
A047
AB00052099
AC-11118
AC1L1K42
AC1Q2J5R
AKOS000200952
ALBB-002089
ARONIS018156
Apo-Sulfamethoxazole
Azo Gantanol
Azo-Gantanol
Azo-gantanol
BAS 00836086
BB_SC-1251
BIDD:GT0731
BPBio1_000081
BRD-K28494619-001-05-0
BRN 0226453
BSPBio_000073
BSPBio_002028
Bactrim
Bactrimel
C07315
C10H11N3O3S
CAS-723-46-6
CCRIS 567
CHEBI:9332
CHEMBL443
CID5329
CPD000058223
D00447
D013420
DB01015
DivK1c_000649
EINECS 211-963-3
Gamazole
Gantanol
Gantanol (TN)
Gantanol (tn)
Gantanol-DS
HMS1568D15
HMS1921A21
HMS2092K03
HMS502A11
HMS561O18
HSDB 3186
I01-0154
IDI1_000649
InChI=1/C10H11N3O3S/c1-7-6-10(12-16-7)13-17(14,15)9-4-2-8(11)3-5-9/h2-6H,11H2,1H3,(H,12,13)
KBio1_000649
KBio2_001474
KBio2_004042
KBio2_006610
KBio3_001528
KBioGR_000749
KBioSS_001474
LS-1620
MLS000069732
MLS001055354
MLS001074165
MS 53
Maybridge1_007190
Metoxal
MolPort-000-145-787
N'-(5-Methyl-3-isoxazole)sulfanilamide
 
N'-(5-Methyl-3-isoxazolyl)-Sulfanilamide
N'-(5-Methyl-3-isoxazolyl)sulfanilamide
N'-(5-Methylisoxazol-3-yl)sulphanilamide
N(Sup1)-(5-Methyl-3-isoxazolyl)sulfanilamide
N(sup 1)-(5-Methyl-3-isoxazolyl)sulfanilamide
N(sup 1)-(5-Methyl-3-isoxazolyl)sulphanilamide
N(sup1)-(5-Methyl-3-isoxazolyl)sulfanilamide
N1-(5-Methyl-3-isoxazolyl)sulfanilamide
N1-(5-Methyl-3-isoxazolyl)sulphanilamide
N1-(5-Methylisoxazol-3-yl)sulfanilamide
N1-(5-methyl-3-isoxazolyl)-Sulfanilamide
NCGC00016533-01
NCGC00016533-02
NCGC00021995-03
NCGC00021995-04
NCGC00021995-05
NINDS_000649
NSC 147832
NSC147832
N^1-(5-Methyl-3-isoxazolyl)-Sulfanilamide
Ndimethyl1-(5-methyl-3-isoxazolyl)-Sulfanilamide
Oprea1_114486
Oprea1_285680
Prestwick0_000177
Prestwick1_000177
Prestwick2_000177
Prestwick3_000177
Prestwick_453
Radonil
Ro 4-2130
Ro 6-2580/11
Ro-4-2130
S0361
S1915_Selleck
S7507_FLUKA
S7507_SIGMA
SAM002554930
SIM
SMR000058223
SMX
SPBio_000896
SPBio_001994
SPECTRUM1500550
STK007988
SULFAMETHOXAZOLE (8064-90-2 (TRIMETHOPRIM/SULFAMETHOXAZOLE)
Septran
Simsinomin
Sinomin
Solfametossazolo
Solfametossazolo [DCIT]
Spectrum2_000788
Spectrum3_000584
Spectrum4_000345
Spectrum5_000982
Spectrum_000994
Sulfamethalazole
Sulfamethoxazol
Sulfamethoxazole
Sulfamethoxazole (JP15/USP/INN)
Sulfamethoxazole [USAN:INN:JAN]
Sulfamethoxazole sodium
Sulfamethoxazole(USAN)
Sulfamethoxazolum
Sulfamethoxazolum [INN-Latin]
Sulfamethoxizole
Sulfamethylisoxazole
Sulfametoxazol
Sulfametoxazol [INN-Spanish]
Sulfanilamide, N1-(5-methyl-3-isoxazolyl)- (8CI)
Sulfisomezole
Sulpha-Methoxizole
Sulpha-methoxizole
Sulphamethalazole
Sulphamethoxazol
Sulphamethoxazole
Sulphamethoxazole BP 98
Sulphamethylisoxazole
Sulphisomezole
TL8005058
TMP/SMX (MIXTURE))
Trib
UNII-JE42381TNV
Urobak
WLN: T5NOJ C1 EMSWR DZ
ZINC00089763
nchembio.221-comp24
sulfamethoxazole
2
Folic Acidapproved, nutraceutical, vet_approvedPhase 2439259-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
Folsaeure
 
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
3Antirheumatic AgentsPhase 210956
4Peripheral Nervous System AgentsPhase 223689
5AntioxidantsPhase 23050
6Calcium, DietaryPhase 1, Phase 25713
7Protective AgentsPhase 27443
8bucillaminePhase 24
9Analgesics, Non-NarcoticPhase 26501
10Anti-Inflammatory AgentsPhase 210729
11AnalgesicsPhase 211733
12potassium phosphatePhase 1, Phase 211
13Anti-Inflammatory Agents, Non-SteroidalPhase 24443
14Anti-Infective AgentsPhase 222062
15MicronutrientsPhase 26001
16Vitamin B ComplexPhase 24337
17Thioctic AcidPhase 2118
18VitaminsPhase 25282
19Trace ElementsPhase 26001
20cysteineNutraceuticalPhase 2200
21Phosphorus SupplementNutraceuticalPhase 1, Phase 24
22Vitamin B9NutraceuticalPhase 24392
23FolateNutraceuticalPhase 24392
24Alpha-lipoic AcidNutraceuticalPhase 2118
25
Penicillamineapproved752-67-55852, 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
26
Tolvaptanapproved90150683-30-0216237
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
27Hormones14415
28Anesthetics9596
29Chelating Agents1423
30Antidotes1071
31Vasopressins294
32Natriuretic Agents1697
33Arginine Vasopressin299
34NoniNutraceutical9

Interventional clinical trials:

(show all 14)
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
3Bucillamine Phase 2 Trial in Patients With CystinuriaRecruitingNCT02942420Phase 2
4Sulfamethoxazole for the Treatment of Primary PREPL DeficiencyEnrolling by invitationNCT02640443Phase 2
5Lipoic Acid Supplement for Cystine StoneNot yet recruitingNCT02910531Phase 2
6PREPL in Health and DiseaseUnknown statusNCT02263781
7Randall's Plaque Study: Pathogenesis and Relationship to NephrolithiasisRecruitingNCT00169806
8Prospective Research Rare Kidney Stones (ProRKS)RecruitingNCT02780297
9Health-related Quality of Life in Rare Kidney StoneRecruitingNCT02124395
10Rare Kidney Stone Consortium BiobankRecruitingNCT02026388
11Rare Kidney Stone Consortium Patient RegistryRecruitingNCT00588562
12Cystine Capacity Clinical Study (CysCap)Active, not recruitingNCT02120105
13Effect of Increasing Doses of Cystine Binding Thiol Drugs on Cystine Capacity in Patients With CystinuriaActive, not recruitingNCT02125721
14TCUPS- Tolvaptan Use in Cyctinuria and Urolithiasis: A Pilot StudyNot yet recruitingNCT02538016

Search NIH Clinical Center for Aminoaciduria

Genetic Tests for Aminoaciduria

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Genetic tests related to Aminoaciduria:

id Genetic test Affiliating Genes
1 Aminoaciduria27

Anatomical Context for Aminoaciduria

About this section

MalaCards organs/tissues related to Aminoaciduria:

36
Liver, Testes, Kidney, Skin, Thyroid, Lung, Eye

Publications for Aminoaciduria

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Articles related to Aminoaciduria:

(show top 50)    (show all 196)
idTitleAuthorsYear
1
Aminoaciduria in the prediction of ifosfamide-induced tubulopathy after childhood cancer: a feasibility study. (27965825)
2016
2
Neutral aminoaciduria in cystathionine I^-synthase-deficient mice; an animal model of homocystinuria. (24761004)
2014
3
Imatinib mesylate induces massive and nonspecific aminoaciduria in CML patients. (22287505)
2012
4
Loss-of-function mutations in the glutamate transporter SLC1A1 cause human dicarboxylic aminoaciduria. (21123949)
2011
5
Aminoaciduria, but normal thyroid hormone levels and signalling, in mice lacking the amino acid and thyroid hormone transporter Slc7a8. (21726201)
2011
6
Mixed proximal and distal renal tubular acidosis without aminoaciduria in a mare. (17939575)
2007
7
Aminoaciduria and altered renal expression of luminal amino acid transporters in mice lacking novel gene collectrin. (16985211)
2007
8
A case of Marfans syndrome with aminoaciduria. (17700001)
2007
9
The molecular basis of neutral aminoacidurias. (16052352)
2006
10
Peeling skin syndrome with aminoaciduria. (16060866)
2005
11
A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria. (15610225)
2005
12
Antenatal diagnosis of hereditary fetal growth retardation with aminoaciduria, cholestasis, iron overload, and lactic acidosis in the newborn infant. (12027811)
2002
13
ABCB6 (MTABC3) excluded as the causative gene for the growth retardation syndrome with aminoaciduria, cholestasis, iron overload, and lactacidosis. (11977179)
2002
14
Evaluation of aminoaciduria in severely traumatized patients. (11750282)
2002
15
Pathology of lethal fetal growth retardation syndrome with aminoaciduria, iron overload, and lactic acidosis (GRACILE). (11942535)
2002
16
The generalized aminoaciduria seen in patients with hepatocyte nuclear factor-1alpha mutations is a feature of all patients with diabetes and is associated with glucosuria. (11522670)
2001
17
Heteromeric amino acid transporters explain inherited aminoacidurias. (10990376)
2000
18
The family of heteromultimeric amino acid transporters reveals aminoaciduria genes. (11143989)
2000
19
The characteristic pattern of aminoaciduria in patients with aristolochic acid-induced Fanconi syndrome: could iminoaciduria be the hallmark of this syndrome? (11020017)
2000
20
Aminoaciduria resulting from vigabatrin administration in children with epilepsy. (10428431)
1999
21
Aminoaciduria in calcium-deficiency rickets in northern Nigeria. (10584465)
1999
22
Iron-overload disease in infants involving fetal growth retardation, lactic acidosis, liver haemosiderosis, and aminoaciduria. (9482441)
1998
23
Aminoaciduria and glycosuria following severe childhood lead poisoning. (9630041)
1998
24
Glutamate transporter EAAC-1-deficient mice develop dicarboxylic aminoaciduria and behavioral abnormalities but no neurodegeneration. (9233792)
1997
25
Phosphaturia, glycosuria and aminoaciduria associated with idiopathic acquired sideroblastic anemia. (8719550)
1995
26
Assignment of the gene coding for the human high-affinity glutamate transporter EAAC1 to 9p24: potential role in dicarboxylic aminoaciduria and neurodegenerative disorders. (8020993)
1994
27
Dicarboxylic aminoaciduria. (7707705)
1994
28
Calciuria and aminoaciduria in very low birth weight infants fed a high-mineral premature formula with varying levels of protein. (8040780)
1994
29
Iminoglycinuria: a benign type of inherited aminoaciduria. (7504361)
1993
30
The relationship between aminoaciduria and plasma hemoglobin levels. (8130761)
1993
31
Transient glycosuria and aminoaciduria in successful transplantation of infant kidneys to adults. (1681256)
1991
32
Aminoaciduria as a marker of acute renal transplant rejection--a patient study. (1905600)
1991
33
D-Aminoaciduria in mutant mice lackingD-amino-acid oxidase activity. (24194108)
1991
34
Aminoaciduria is an earlier index of renal tubular damage than conventional renal disease markers in the gentamicin-rat model of acute renal failure. (2060188)
1991
35
Aminoaciduria due to vinyl-GABA administration. (2215628)
1990
36
Aminoaciduria of phosphate depletion manifests at the renal brush border membrane. (2277606)
1990
37
Persistent nephrogenic diabetes insipidus, tubular proteinuria, aminoaciduria, and parathyroid hormone resistance following longterm lithium administration. (2170960)
1990
38
Aminoaciduria of severe trauma. (2718916)
1989
39
Dicarboxylic aminoaciduria associated with mental retardation. (2567279)
1989
40
Aminoaciduria of vitamin D deficiency is independent of PTH levels and urinary cyclic AMP. (2548072)
1989
41
Lack of D-amino-acid oxidase activity causes a specific renal aminoaciduria in the mouse. (2904279)
1988
42
Asperger's syndrome and aminoaciduria: a case example. (3664113)
1987
43
Transient proteinuria and aminoaciduria in rodents following uranium intoxication. (3978278)
1985
44
Omega-aminoaciduria induced by gamma-vinyl GABA. (6142173)
1984
45
Aminoaciduria with serum and urinary copper in renal diseases. (6674185)
1983
46
An unusual case of Morquio's syndrome with aminoaciduria. (6418710)
1983
47
Aminoaciduria in handicapped children: a study using ion-exchange chromatography as a screening test. (6165874)
1981
48
Dipropylacetate and aminoaciduria. (6766992)
1980
49
Aminoaciduria--its relationship to vitamin D and parathyroid hormone. (6998653)
1980
50
Combined iminoglycinuria and cystine- and dibasic aminoaciduria in patients with propionic acidaemia and 3-methylcrotonylglycinuria. (6775144)
1980

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

idNameGO IDScoreTop Affiliating Genes
1brush border membraneGO:00315269.2SLC34A1, SLC3A1, SLC6A19, SLC7A9, TMEM27
2integral component of plasma membraneGO:00058878.6CLCN5, SLC1A1, SLC34A1, SLC3A1, SLC5A2, SLC6A19
3extracellular exosomeGO:00700627.9ABCB6, B2M, MARS, MPST, OCRL, SLC1A1

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1amino acid transmembrane transportGO:000333310.8SLC6A19, SLC7A9
2neutral amino acid transportGO:001580410.8SLC6A19, SLC7A9
3L-cystine transportGO:001581110.7SLC3A1, SLC7A9
4amino acid transportGO:000686510.6SLC3A1, SLC6A19, SLC7A9
5response to cadmium ionGO:004668610.4B2M, SLC34A1
6transmembrane transportGO:005508510.1ABCB6, CLCN5, SLC1A1, SLC5A2, SLC6A19
7transportGO:00068108.3ABCB6, CLCN5, SLC1A1, SLC34A1, SLC3A1, SLC5A2

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

idNameGO IDScoreTop Affiliating Genes
1neutral amino acid transmembrane transporter activityGO:001517510.6SLC6A19, SLC7A9
2L-cystine transmembrane transporter activityGO:001518410.5SLC3A1, SLC7A9
3amino acid transmembrane transporter activityGO:001517110.1SLC1A1, SLC3A1, SLC6A19, SLC7A9
4symporter activityGO:00152939.3SLC1A1, SLC34A1, SLC5A2, SLC6A19

Sources for Aminoaciduria

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