Aliases & Classifications for Aminoaciduria

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Aliases & Descriptions for Aminoaciduria:

Name: Aminoaciduria 47 26 49 67

Classifications:



Summaries for Aminoaciduria

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Wikipedia:70 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 chyluria, pneumatouria and traumatic hematuria. 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 testes, 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 76)
idRelated DiseaseScoreTop Affiliating Genes
1dicarboxylic aminoaciduria12.3
2inborn renal aminoaciduria11.8
3lysinuric protein intolerance11.6
4gracile syndrome11.6
5hartnup disorder11.5
6cystinuria11.0
7dibasic amino aciduria i10.9
8fanconi renotubular syndrome 110.9
9lowe syndrome10.9
10rowley-rosenberg syndrome10.8
11fanconi renotubular syndrome 310.7
12fanconi renotubular syndrome 210.7
13interstitial lung and liver disease10.7
14fanconi renotubular syndrome 4, with maturity-onset diabetes of the young10.7
15dent disease10.7
16dent disease 210.7
17proximal renal tubular acidosis10.7
18isolated klippel-feil syndrome10.5EHHADH, SLC34A1
19nystagmus 1, congenital, x-linked10.4CLCN5, OCRL
20charcot-marie-tooth disease, axonal, type 2u10.3MARS, MIR6758
21mucinous tubular and spindle renal cell carcinoma10.3CLCN5, OCRL
22protein-losing enteropathy10.2CLCN5, OCRL, SLC34A1
23pulmonary fibrosis and/or bone marrow failure, telomere-related, 110.1SLC6A19, TMEM27
24proximal chromosome 18q deletion syndrome10.1HNF1A, HNF4A
25star syndrome10.1CLCN5, OCRL
26rickets10.0
27muscular dystrophy10.0
28neutropenia9.9CLCN5, SLC34A1, SLC3A1
29progressive muscular dystrophy9.9
30ataxia9.9
31microphthalmia9.8CLCN5, EHHADH, HNF4A, OCRL, SLC34A1
32cerebellar ataxia9.8
33kwashiorkor9.8
34epilepsy9.8
35lactic acidosis9.8
36dwarfism9.8
37renal glucosuria9.7
38cataract9.7
39hepatitis9.7
40renal tubular acidosis9.7
41cholestasis9.7
42pancreatitis9.7
43osteoporosis9.6
44multiple myeloma9.6
45phenylketonuria9.6
46marfan syndrome9.6
47hypophosphatemic rickets9.6
48scurvy9.6
49hyper-beta-alaninemia9.6
50angina pectoris9.6

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:


chyluria, pneumatouria, traumatic hematuria

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 2158723-46-65329
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 2427959-30-36037
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
3Calcium, DietaryPhase 1, Phase 25525
4potassium phosphatePhase 1, Phase 211
5Protective AgentsPhase 27190
6Antirheumatic AgentsPhase 210627
7Anti-Infective AgentsPhase 221402
8AnalgesicsPhase 211287
9MicronutrientsPhase 25802
10Thioctic AcidPhase 2115
11Trace ElementsPhase 25802
12Analgesics, Non-NarcoticPhase 26260
13Peripheral Nervous System AgentsPhase 222776
14Anti-Inflammatory Agents, Non-SteroidalPhase 24295
15Anti-Inflammatory AgentsPhase 210355
16AntioxidantsPhase 22928
17Vitamin B ComplexPhase 24229
18bucillaminePhase 24
19VitaminsPhase 25095
20Phosphorus SupplementNutraceuticalPhase 1, Phase 24
21Vitamin B9NutraceuticalPhase 24279
22FolateNutraceuticalPhase 24279
23cysteineNutraceuticalPhase 2190
24Alpha-lipoic AcidNutraceuticalPhase 2115
25
Penicillamineapproved652-67-55852, 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
Tolvaptanapproved89150683-30-0216237
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
27Anesthetics9001
28Hormones13979
29Chelating Agents1365
30Antidotes1038
31Vasopressins286
32Natriuretic Agents1645
33Arginine Vasopressin290
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
3Sulfamethoxazole for the Treatment of Primary PREPL DeficiencyEnrolling by invitationNCT02640443Phase 2
4Trial in Patients With CystinuriaNot yet recruitingNCT02942420Phase 2
5Lipoic Acid Supplement for Cystine StoneNot yet recruitingNCT02910531Phase 2
6PREPL in Health and DiseaseUnknown statusNCT02263781
7Prospective Research Rare Kidney Stones (ProRKS)RecruitingNCT02780297
8Health-related Quality of Life in Rare Kidney StoneRecruitingNCT02124395
9Rare Kidney Stone Consortium BiobankRecruitingNCT02026388
10Rare Kidney Stone Consortium Patient RegistryRecruitingNCT00588562
11Randall's Plaque Study: Pathogenesis and Relationship to NephrolithiasisRecruitingNCT00169806
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 Aminoaciduria26

Anatomical Context for Aminoaciduria

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MalaCards organs/tissues related to Aminoaciduria:

35
Kidney, Liver, Testes, Skin, Thyroid, Lung, Eye

Animal Models for Aminoaciduria or affiliated genes

About this section

MGI Mouse Phenotypes related to Aminoaciduria:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.4B2M, BCS1L, CLCN5, EHHADH, HNF1A, HNF4A
2MP:00053787.4B2M, BCS1L, CLCN5, EHHADH, HNF1A, HNF4A
3MP:00053677.2BCS1L, CLCN5, HNF1A, OCRL, SLC1A1, SLC34A1
4MP:00053765.9ABCB6, B2M, BCS1L, CLCN5, EHHADH, HNF1A

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
Aminoaciduria, but normal thyroid hormone levels and signalling, in mice lacking the amino acid and thyroid hormone transporter Slc7a8. (21726201)
2011
3
Aminoaciduria and altered renal expression of luminal amino acid transporters in mice lacking novel gene collectrin. (16985211)
2007
4
A case of Marfans syndrome with aminoaciduria. (17700001)
2007
5
Mixed proximal and distal renal tubular acidosis without aminoaciduria in a mare. (17939575)
2007
6
The molecular basis of neutral aminoacidurias. (16052352)
2006
7
A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria. (15610225)
2005
8
Evaluation of aminoaciduria in severely traumatized patients. (11750282)
2002
9
The family of heteromultimeric amino acid transporters reveals aminoaciduria genes. (11143989)
2000
10
Iminoglycinuria: a benign type of inherited aminoaciduria. (7504361)
1993
11
Aminoaciduria of severe trauma. (2718916)
1989
12
An unusual case of Morquio's syndrome with aminoaciduria. (6418710)
1983
13
Maleic acid induced aminoaciduria, studied by free flow micropuncture and continuous microperfusion. (574260)
1979
14
Maple syrup urine disease. Thiamin responsive branched chain aminoaciduria: a unique case in an adult: (case report). (914742)
1977
15
A study of aminoacidemia and aminoaciduria in epileptic children. (1024264)
1976
16
A case of renal tubular acidosis with secondary hyperparathyroidism, lipemia and aminoaciduria with review of Japanese literature. (4459115)
1974
17
Dicarboxylic aminoaciduria: an inborn error of glutamate and aspartate transport with metabolic implications, in combination with a hyperprolinemia. (4810805)
1974
18
Aminoaciduria in Japanese workers in the lead and cadmium industries. (5025608)
1972
19
Iatrogenic aminoaciduria. (4098696)
1970
20
Aminoaciduria in a homocystinuric family. (5358562)
1969
21
Aminoaciduria in pernicious anaemia. (5365352)
1969
22
Hereditary granular corneal dystrophy and associated aminoaciduria. (4924455)
1969
23
Chronic mucocutaneous candidiasis as a surface expression of deep-seated abnormalities. Report of a syndrome of superficial candidiasis, absence of delayed hypersensitivity and aminoaciduria. (5822974)
1969
24
Some observations on serum proteins and aminoaciduria in malnutrition. (4181964)
1969
25
Aminoaciduria-renal transport. (4865975)
1968
26
Hereditary pancreatitis. A kindred without gross aminoaciduria. (5635333)
1968
27
Aminoaciduria: a Garrod's eye view. (5644562)
1968
28
Significance of aminoaciduria in Indian childhood cirrhosis. (5594808)
1967
29
Aminoaciduria resulting from cycloleucine administration in man. (6028026)
1967
30
Chromatographic studies of aminoaciduria in rickets. (5920143)
1966
31
Aminoaciduria in bone diseases in children. (5953604)
1966
32
AMINOACIDURIA. (14281555)
1965
33
LUNG CARCINOMA, HYPOURICEMIA AND AMINOACIDURIA. (14338303)
1965
34
AMINOACIDURIA INDUCED BY SALICYLATES. (14179127)
1964
35
Familial aminoaciduria in osteogenesis imperfecta. (13879232)
1962
36
Nephrotic syndrome with aminoaciduria, glycosuria, polydipsia, polyuria and potassium depletion. (13985100)
1962
37
Aminoaciduria in progressive muscular dystrophy. (13970673)
1962
38
Excretion of D- and L-methionine in children with generalized aminoaciduria. (14486427)
1961
39
A rapid spot test for the determination of cystinuria and aminoaciduria. (13893181)
1961
40
Aminoaciduria in various types of rickets. A study by the high voltage electrophoretic technique. (13781573)
1960
41
Evaluation of familial biochemically determined mental retardation in children, with special reference to aminoaciduria. (14429829)
1960
42
Cheilosis-like mucous and cutaneous lesions, seborrheic dermatitis and hereditary aminoaciduria. (13769331)
1960
43
Aminoaciduria in pediatrics. (13827719)
1960
44
Aminoaciduria, glycosuria, and hypophosphatemic rickets (de Toni-Fanconi syndrome). (13849014)
1960
45
Cryoglobulinemia, macroglobulinemia, and the aminoaciduria which is sometimes associated with multiple myeloma. (13307228)
1956
46
Aminoaciduria in the megaloblastic anaemias. (13332072)
1956
47
Aminoaciduria following total-body irradiation in the human. (13233953)
1955
48
Aminoaciduria in galactosaemia. (13180338)
1954
49
The diagnosis of aminoaciduria in childhood: cystine storage disease and cystine-lysinuria. (13213438)
1954
50
Aminoaciduria in childhood: cystinuria and cystinosis. (13057864)
1953

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
1integral component of plasma membraneGO:00058878.8CLCN5, SLC1A1, SLC34A1, SLC3A1, SLC5A2, SLC6A19
2brush border membraneGO:00315268.7SLC34A1, SLC3A1, SLC5A2, SLC6A19, SLC7A9, TMEM27
3extracellular exosomeGO:00700626.1ABCB6, B2M, MARS, MIR6758, MPST, OCRL

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

idNameGO IDScoreTop Affiliating Genes
1neutral amino acid transportGO:001580410.3SLC6A19, SLC7A9
2methionyl-tRNA aminoacylationGO:000643110.0MARS, MIR6758
3amino acid transmembrane transportGO:000333310.0SLC3A1, SLC6A19, SLC7A9
4amino acid transportGO:00068659.9SLC3A1, SLC6A19, SLC7A9
5response to cadmium ionGO:00466869.7B2M, SLC34A1
6L-cystine transportGO:00158119.7SLC3A1, SLC7A9

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

idNameGO IDScoreTop Affiliating Genes
1neutral amino acid transmembrane transporter activityGO:001517510.3SLC6A19, SLC7A9
2methionine-tRNA ligase activityGO:000482510.1MARS, MIR6758
3L-cystine transmembrane transporter activityGO:001518410.0SLC3A1, SLC7A9
4amino acid transmembrane transporter activityGO:00151719.8SLC1A1, SLC3A1, SLC6A19, SLC7A9
5antiporter activityGO:00152979.7CLCN5, SLC7A9

Sources for Aminoaciduria

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet