Aminoaciduria disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: AMN006 MIFTS: 41	Aminoaciduria Categories: Rare diseases
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Aliases & Classifications for Aminoaciduria

MalaCards integrated aliases for Aminoaciduria:

Name: Aminoaciduria ⁵³ ²⁹ ⁵⁵ ⁷³

Classifications:

MalaCards categories:
Global: Rare diseases

See all MalaCards categories (disease lists)

External Ids:

UMLS ⁷³ C0238621

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Summaries for Aminoaciduria

MalaCards based summary : Aminoaciduria is related to dicarboxylic aminoaciduria and dent disease 1. An important gene associated with Aminoaciduria is SLC1A1 (Solute Carrier Family 1 Member 1), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Hepatic ABC Transporters. The drugs Ritonavir and Emtricitabine have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and testes, and related phenotypes are homeostasis/metabolism and growth/size/body region

Wikipedia : ⁷⁶ Aminoaciduria occurs when the urine contains abnormally high amounts of amino acids. In the healthy... more...

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Related Diseases for Aminoaciduria

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

(show top 50) (show all 87)

#	Related Disease	Score	Top Affiliating Genes
1	dicarboxylic aminoaciduria	34.7	SLC1A1 SPATA6L
2	dent disease 1	31.9	CLCN5 OCRL
3	fanconi syndrome	31.3	CLCN5 EHHADH HNF4A OCRL SLC34A1
4	hypophosphatemic rickets, x-linked recessive	29.9	CLCN5 SLC34A1
5	inborn renal aminoaciduria	12.1
6	gracile syndrome	11.7
7	lysinuric protein intolerance	11.7
8	hartnup disorder	11.6
9	cystinuria	11.1
10	fanconi renotubular syndrome 1	11.1
11	dibasic amino aciduria i	11.0
12	lowe oculocerebrorenal syndrome	11.0
13	rowley-rosenberg syndrome	10.9
14	arthrogryposis, renal dysfunction, and cholestasis 1	10.8
15	galactose epimerase deficiency	10.8
16	dent disease 2	10.8
17	fanconi renotubular syndrome 2	10.8
18	interstitial lung and liver disease	10.8
19	fanconi renotubular syndrome 3	10.8
20	fanconi renotubular syndrome 4 with maturity-onset diabetes of the young	10.8
21	primary fanconi syndrome	10.5	EHHADH SLC34A1
22	renal tubular transport disease	10.3	CLCN5 OCRL
23	rickets	10.0
24	muscular dystrophy	10.0
25	nephrotic syndrome	9.9
26	hemosiderosis	9.9
27	aceruloplasminemia	9.9
28	ataxia-oculomotor apraxia 3	9.9
29	cystinosis	9.9
30	kwashiorkor	9.9
31	epilepsy	9.9
32	lactic acidosis	9.9
33	dwarfism	9.9
34	monogenic diabetes	9.9	HNF1A HNF4A
35	pancreatitis, hereditary	9.8
36	renal glucosuria	9.8
37	iminoglycinuria	9.8
38	porphyria, acute hepatic	9.8
39	cataract	9.8
40	hepatitis	9.8
41	renal tubular acidosis	9.8
42	cholestasis	9.8
43	pancreatitis	9.8
44	nephrolithiasis	9.8	CLCN5 SLC34A1 SLC3A1
45	darier-white disease	9.6
46	diabetes insipidus, nephrogenic, autosomal	9.6
47	marfan syndrome	9.6
48	osteoporosis	9.6
49	hyper-beta-alaninemia	9.6
50	maple syrup urine disease	9.6

Graphical network of the top 20 diseases related to Aminoaciduria:

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Symptoms & Phenotypes for Aminoaciduria

MGI Mouse Phenotypes related to Aminoaciduria:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism	MP:0005376	10.06	HNF4A MPST OCRL SLC1A1 SLC34A1 SLC3A1
2	growth/size/body region	MP:0005378	10.03	B2M BCS1L CLCN5 CLTRN EHHADH HNF1A
3	adipose tissue	MP:0005375	9.8	CLTRN HNF1A SLC1A1 SLC3A1 SLC5A2 SLC6A19
4	liver/biliary system	MP:0005370	9.43	CLCN5 EHHADH HNF1A HNF4A B2M BCS1L
5	renal/urinary system	MP:0005367	9.36	BCS1L CLCN5 CLTRN HNF1A OCRL SLC1A1

Sources

Drugs & Therapeutics for Aminoaciduria

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

(show all 50)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Ritonavir

Approved, Investigational

Phase 4

155213-67-5

392622

Synonyms:

1,3-thiazol-5-ylmethyl N-[(2S,3S,5S)-3-hydroxy-5-[[(2S)-3-methyl-2-[[methyl-[(2-propan-2-yl-1,3-thiazol-4-yl)methyl]carbamoyl]amino]butanoyl]amino]-1,6-diphenylhexan-2-yl]carbamate

155213-67-5

1hxw

1sh9

538, ABT

5-Thiazolylmethyl ((alphaS)-alpha-((1S,3S)-1-hydroxy-3-((2S)-2-(3-((2-isopropyl-4-thiazolyl)methyl)-3-methylureido)-3-methylbutyramido)-4-phenylbutyl)phenethyl)carbamate

5-Thiazolylmethyl ((alphaS)-alpha-((1S,3S-1-hydroxy-3-((2S)-2-(3-((2-isopropyl-4-thiazolyl)methyl)-3-methylureido)-3-methylbutyramido)-4-phenylbutyl)phenethyl)carbamate

A-84538

Abbott 84538

ABBOTT-84538

ABT 538

ABT 84538

ABT538

ABT-538

AC1L94GB

AC-733

AKOS000280930

BIDD:GT0387

BIDD:PXR0023

Bio-0093

C07240

C37H48N6O5S2

CHEBI:45409

CHEMBL163

CID392622

CPD000466395

D00427

D019438

DB00503

DRG-0244

FT-0082824

HMS2051B08

HSDB 7160

LS-148860

MLS000759541

MLS001424063

MolPort-000-883-877

N-[(2S,4S,5S)-4-hydroxy-1,6-diphenyl-5-{[(1,3-thiazol-5-ylmethoxy)carbonyl]amino}hexan-2-yl]-N~2~-(methyl{[2-(propan-2-yl)-1,3-thiazol-4-yl]methyl}carbamoyl)-L-valinamide

NCGC00159462-02

Norvir

Norvir (TM)

Norvir (TN)

Norvir Sec

NSC693184

RIT

ritonavir

Ritonavir

Ritonavir (JAN/USAN/INN)

Ritonavir [USAN]

Ritonavir is an inhibitor of HIV protease used to treat HIV infection and AIDS.

Ritonavirum

RTV

S1185_Selleck

SAM001246783

SMR000466395

STK634209

ZINC03944422

Emtricitabine

Approved, Investigational

Phase 4

143491-57-0

60877

Synonyms:

(-)-(2R,5S)-5-fluoro-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl]cytosine

(−)-(2R,5S)-5-fluoro-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl]cytosine

(-)-(2R,5S)-5-fluoro-1-[2-(Hydroxymethyl)-1,3-oxathiolan-5-yl]cytosine

(-)-.beta.-L-FTC

(-)-2',3'-Dideoxy-5-fluoro-3'-thiacytidine

(−)-2'-deoxy-5-fluoro-3'-thiacytidine

(-)-2'-Deoxy-5-fluoro-3'-thiacytidine

(-)-b-2',3'-Dideoxy-5-fluoro-3'-thiacytidine

(-)-beta-2',3'-dideoxy-5-fluoro-3'-thiacytidine

(-)-beta-2',3'-Dideoxy-5-fluoro-3'-thiacytidine

(-)-cis-4-amino-5-fluoro-1-(2-hydroxymethyl-1,3-oxathiolan-5-yl)-(1H)-pyrimidin-2-one

(−)-cis-4-amino-5-fluoro-1-(2-hydroxymethyl-1,3-oxathiolan-5-yl)-(1H)-pyrimidin-2-one

(-)-cis-4-amino-5-fluoro-1-(2-Hydroxymethyl-1,3-oxathiolan-5-yl)-(1H)-pyrimidin-2-one

(-)-FTC

(−)-FTC

(-)-β-2',3'-dideoxy-5-fluoro-3'-thiacytidine

(−)-β-2',3'-dideoxy-5-fluoro-3'-thiacytidine

(2R-cis)-4-amino-5-fluoro-1-(2-(hydroxymethyl)-1,3-oxathiolan-5-yl)-2(1H)-pyrimidinone

(2R-cis)-4-amino-5-fluoro-1-(2-(Hydroxymethyl)-1,3-oxathiolan-5-yl)-2(1H)-pyrimidinone

(2R-cis)-4-Amino-5-fluoro-1-(2-(hydroxymethyl)-1,3-oxathiolan-5-yl)-2(1H)-pyrimidinone

.beta.-L-(-)-(2R,5S)-5-Fluoro-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl]cytosine

1-(2-(Hydroxymethyl)oxathiolan-5-yl)-5-fluorocytosine

143491-54-7

143491-57-0

145213-48-5

2',3',5-FTC

2',3'-Dideoxy-5-fluoro-3'-thiacytidine

2'-Deoxy-5-fluoro-3'-oxa-4'-thiocytidine

2'-Deoxy-5-fluoro-3'-thiacytidine

2-FTC

3'-Thia-2'.3'-dideoxy-5-fluorocytidine

4-amino-5-fluoro-1-((2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl)pyrimidin-2(1H)-one

4-amino-5-fluoro-1-((2R,5S)-2-(Hydroxymethyl)-1,3-oxathiolan-5-yl)pyrimidin-2(1H)-one

4-amino-5-fluoro-1-((2R,5S)-2-Hydroxymethyl-[1,3]oxathiolan-5-yl)-1H-pyrimidin-2-one

4-Amino-5-fluoro-1-((2R,5S)-2-hydroxymethyl-[1,3]oxathiolan-5-yl)-1H-pyrimidin-2-one

4-Amino-5-fluoro-1-[(2R,5S)-(hydroxymethyl)-1,3-oxathiolan-5-yl]-2(1H)-pyrimidinone

4-amino-5-fluoro-1-[(2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl]pyrimidin-2(1H)-one

4-amino-5-fluoro-1-[(2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl]pyrimidin-2-one

524W91

5-fluoro-1-((2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl)cytosine

5-fluoro-1-((2R,5S)-2-(Hydroxymethyl)-1,3-oxathiolan-5-yl)cytosine

5-Fluoro-1-((2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl)cytosine

5-Fluoro-1-(2-(hydroxymethyl)-1,3-oxathiolan-5-yl)cytosine

5-fluoro-1-[(2R,5S)-2-(hydroxymethyl)[1,3]oxathiolan-5-yl]cytosine

AC1L1U3I

AC1Q4KUB

beta-L-2',3'-dideoxy-5-fluoro-3'-thiacytidine

BW 1592

BW 524W91

BW524W91

BW-524W91

C122114

C12599

C8H10FN3O3S

CHEBI:31536

CHEMBL885

CID60877

Coviracil

Coviracil(TM)

D01199

DB00879

dOTFC

DRG-0208

Emtricitabin

Emtricitabina

Emtricitabine

Emtricitabine (JAN/USAN/INN)

Emtricitabinum

Emtriva

Emtriva (TN)

Emtriva(TM)

FT-0080009

HMS2089I05

HSDB 7337

LS-135838

LS-173184

NCGC00164564-01

Racivir

RCV

SBB066061

TL8000958

UNII-G70B4ETF4S

ZINC03629271

Penicillamine

Approved

Phase 4

52-67-5

5852 4727

Synonyms:

(−)-penicillamine

(-)-Penicillamine

(+-)-Penicillamine

(2S)-2-amino-3-methyl-3-sulfanyl-butanoic acid

(2S)-2-Amino-3-methyl-3-sulfanylbutanoic acid

(D)-PENICILLAMINE

(S)-2-amino-3-mercapto-3-methylbutanoic acid

(S)-3,3-dimethylcysteine

(S)-3,3-Dimethylcysteine

(S)-Penicillamin

(S)-Penicillamine

16414-54-3

2-Amino-3-mercapto-3-methylbutanoic acid

2-amino-3-mercapto-3-Methylbutyrate

2-amino-3-mercapto-3-Methylbutyric acid

3,3-Dimethylcysteine

3,3-Dimethyl-D-cysteine

3-mercapto-D-valine

3-Mercapto-D-valine

3-Mercaptovaline

3-sulfanyl-D-valine

52-67-5

76400_FLUKA

AC1L1L9Z

AC1Q1NP9

AC1Q1NPA

alpha-Amino-beta-methyl-beta-mercaptobutyric acid

Artamine

beta,beta Dimethylcysteine

beta,beta-Dimethylcysteine

beta-Mercaptovaline

beta-Thiovaline

Bio-0578

b-Mercaptovaline

BSPBio_002181

C07418

CCRIS 2904

CHEBI:7959

CHEMBL1430

CID5852

Copper penicillaminate

CPD-7702

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,L-Penicillamine

D00496

D010396

D-3-Mercaptovaline

DB00859

D-beta,beta-Dimethylcysteine

D-beta-Mercaptovaline

Depamine

Depen

Depen (TN)

Dimethylcysteine

Distamine (*Hydrochloride*)

DivK1c_000314

DL-3-Mercaptovaline

DL-beta-Mercaptovaline

DL-b-Mercaptovaline

DL-β-mercaptovaline

D-Mercaptovaline

D-Penamine

D-Penicilamine

D-penicillamine

D-Penicillamine

D-Penicyllamine

D-β,β-dimethylcysteine

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

P0147

P-1280

P4875_SIGMA

Pendramine

Penicilamina

Penicilamina [INN-Spanish]

Penicillamin

Penicillamina

Penicillamina [DCIT]

Penicillaminate, Copper

penicillamine

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

Spectrum_000283

Spectrum2_001029

Spectrum3_000541

Spectrum4_000470

Spectrum5_001196

Sufirtan

Sufortan

TBB068824

Trolovol

UNII-GNN1DV99GX

β-mercaptovaline

Tenofovir

Phase 4

147127-20-6

464205

Synonyms:

(R)-9-(2-Phosphonomethoxypropyl)adenine

(R)-9-(2-Phosphonylmethoxypropyl)adenine

(R)-PMPA

[(2R)-1-(6-aminopurin-9-yl)propan-2-yl]oxymethylphosphonic acid

147127-20-6

206184-49-8

9-(2-Phosphonomethoxypropyl)adenine

9-(2-Phosphonylmethoxypropyl)adenine

9-(2-Phosphonylmethoxypropyl)adenine, (+-)-isomer

9-(2-Phosphonylmethoxypropyl)adenine, (R)-isomer - T357098

9-(2-Phosphonylmethoxypropyl)adenine, (S)-isomer

9-PMPA (tenofovir)

AC1LA9BO

AC-760

Anh. tenofovir

Anhydrous tenofovir

Apropovir

CHEBI:45809

CHEMBL483

CID464205

D,L-Tenofovir

DB00300

Disoproxil fumarate, tenofovir

Disoproxil, tenofovir

Fumarate, tenofovir disoproxil

GNA & Tenofovir

GS 1275

GS 1278

GS1278

HHA & Tenofovir

KS-5021

MolPort-003-850-411

NCGC00167535-01

Phosphonic acid, [[(1R)-2-(6-amino-9H-purin-9-yl)-1-methylethoxy]methyl]- & Galanthus nivalis agglutinin (GNA)

Phosphonic acid, [[(1R)-2-(6-amino-9H-purin-9-yl)-1-methylethoxy]methyl]- & Hippeastrum hybrid agglutinin( HHA)

Phosphonic acid, [[(1R)-2-(6-amino-9H-purin-9-yl)-1-methylethoxy]methyl]- (9CI)

Phosphonic acid, [[2-(6-amino-9H-purin-9

PMPA

PMPA-(R)

S1401_Selleck

TDF

Tenefovir

Tenofovir

Tenofovir (anh.)

Tenofovir disoproxil

Tenofovir disoproxil fumarate

TFV

UNII-99YXE507IL

Viread

Viread, Tenofovir

protease inhibitors

Phase 4

Raltegravir Potassium

Phase 4

Reverse Transcriptase Inhibitors

Phase 4

HIV Integrase Inhibitors

Phase 4

Cytochrome P-450 CYP3A Inhibitors

Phase 4

HIV Protease Inhibitors

Phase 4

Cytochrome P-450 Enzyme Inhibitors

Phase 4

Nucleic Acid Synthesis Inhibitors

Phase 4

Anti-Infective Agents

Phase 4,Phase 2

Integrase Inhibitors

Phase 4

Anti-HIV Agents

Phase 4

Anti-Retroviral Agents

Phase 4

Atazanavir Sulfate

Phase 4

Antiviral Agents

Phase 4

Chelating Agents

Phase 4

Antidotes

Phase 4

Protective Agents

Phase 4,Phase 2

Antirheumatic Agents

Phase 4,Phase 2

Sulfamethoxazole

Approved

Phase 2

723-46-6

5329

Synonyms:

129378-89-8

3-(P-Aminobenzenesulfonamido)-5-methylisoxazole

3-(p-Aminophenylsulfonamido)-5-methylisoxazole

3-(P-Aminophenylsulfonamido)-5-methylisoxazole

3-(P-Aminophenylsulphonamido)-5-methylisoxazole

3-(para-Aminophenylsulphonamido)-5-methylisoxazole

3-(Para-aminophenylsulphonamido)-5-methylisoxazole

3-Sulfanilamido-5-methylisoxazole

3-Sulphanilamido-5-methylisoxazole

46850_RIEDEL

4-amino-N-(5-methyl-1,2-oxazol-3-yl)benzenesulfonamide

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-3-isoxazolyl)benzenesulfonamide

4-amino-N-(5-Methyl-3-isoxazolyl)benzenesulphonamide

4-amino-N-(5-methylisoxazol-3-yl)benzenesulfonamide

4-Amino-N-(5-methyl-isoxazol-3-yl)-benzenesulfonamide

4-Amino-N-[5-methyl-3- isoxazolyl]benzenesulfonamide

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

Apo-Sulfamethoxazole

ARONIS018156

Azo Gantanol

azo-Gantanol

Azo-gantanol

Azo-Gantanol

Bactrim

Bactrimel

BAS 00836086

BB_SC-1251

BIDD:GT0731

BPBio1_000081

BRD-K28494619-001-05-0

BRN 0226453

BSPBio_000073

BSPBio_002028

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-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

Maybridge1_007190

Metoxal

MLS000069732

MLS001055354

MLS001074165

MolPort-000-145-787

MS 53

N'-(5-methyl-3-isoxazole)sulfanilamide

N'-(5-Methyl-3-isoxazole)sulfanilamide

N'-(5-methyl-3-isoxazolyl)sulfanilamide

N'-(5-methyl-3-isoxazolyl)-sulfanilamide

N'-(5-Methyl-3-isoxazolyl)sulfanilamide

N'-(5-methylisoxazol-3-yl)sulphanilamide

N'-(5-Methylisoxazol-3-yl)sulphanilamide

N(sup 1)-(5-Methyl-3-isoxazolyl)sulfanilamide

N(sup 1)-(5-Methyl-3-isoxazolyl)sulphanilamide

N(sup1)-(5-Methyl-3-isoxazolyl)sulfanilamide

N^1-(5-methyl-3-isoxazolyl)-sulfanilamide

N1-(5-Methyl-3-isoxazolyl)sulfanilamide

N1-(5-Methyl-3-isoxazolyl)-sulfanilamide

N1-(5-Methyl-3-isoxazolyl)sulphanilamide

N1-(5-Methylisoxazol-3-yl)sulfanilamide

NCGC00016533-01

NCGC00016533-02

NCGC00021995-03

NCGC00021995-04

NCGC00021995-05

nchembio.221-comp24

Ndimethyl1-(5-methyl-3-isoxazolyl)-sulfanilamide

NINDS_000649

NSC 147832

NSC147832

Oprea1_114486

Oprea1_285680

Prestwick_453

Prestwick0_000177

Prestwick1_000177

Prestwick2_000177

Prestwick3_000177

Radonil

Ro 4-2130

Ro 6-2580/11

Ro-4-2130

S0361

S1915_Selleck

S7507_FLUKA

S7507_SIGMA

SAM002554930

Septran

SIM

Simsinomin

Sinomin

SMR000058223

SMX

Solfametossazolo

Solfametossazolo [DCIT]

SPBio_000896

SPBio_001994

Spectrum_000994

SPECTRUM1500550

Spectrum2_000788

Spectrum3_000584

Spectrum4_000345

Spectrum5_000982

STK007988

Sulfamethalazole

Sulfamethoxazol

sulfamethoxazole

Sulfamethoxazole

SULFAMETHOXAZOLE (8064-90-2 (TRIMETHOPRIM/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

Sulphamethalazole

Sulphamethoxazol

Sulphamethoxazole

Sulphamethoxazole BP 98

Sulpha-methoxizole

Sulpha-Methoxizole

Sulphamethylisoxazole

Sulphisomezole

TL8005058

TMP/SMX (MIXTURE))

Trib

UNII-JE42381TNV

Urobak

WLN: T5NOJ C1 EMSWR DZ

ZINC00089763

Folic Acid

Approved, Nutraceutical, Vet_approved

Phase 2

59-30-3

6037

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

Acfol (Spain)

Acide folique

Acide folique [INN-French]

Acido folico

Acido folico [INN-Spanish]

Acidum folicum

Acidum folicum [INN-Latin]

Acifolic

AI3-26387

AKOS000503224

Antianemia factor

Apo-Folic

ARONIS014410

b9, Vitamin

BIDD:ER0563

BIDD:GT0641

BIF0608

bmse000299

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

Dosfolat B activ

EINECS 200-419-0

F0043

F7876_SIAL

F7876_SIGMA

F8758_SIGMA

F8798_SIAL

F8890_SIGMA

Facid

Factor U

FOL

Folacid

Folacin

Folaemin

Folaemin [Netherlands]

Folan

Folasic (Australia)

Folate

Folbal

Folcidin

Folcidin (VAN)

Folcysteine

Foldine

Foldine [France]

Folettes

Foliamin

Folic

folic acid

Folic acid

Folic acid (JP15/USP/INN)

Folic acid (TN)

Folic acid [BAN:INN:JAN]

Folic acid [INN:BAN:JAN]

Folic acid dihydrate

Folic acid, (D)-isomer

Folic acid, (DL)-isomer

Folic acid, calcium salt (1:1)

Folic acid, monopotassium salt

Folic acid, monosodium salt

Folic acid, potassium salt

Folic acid, sodium salt

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

Incafolic

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

KBio1_000494

KBio2_001861

KBio2_004429

KBio2_006997

KBio3_001558

KBioGR_002222

KBioSS_001861

Kyselina listova

Kyselina listova [Czech]

Liver lactobacillus casei factor

Liver Lactobacillus casei factor

LS-2157

Millafol

Mission prenatal

Mittafol

MLS001304016

MLS001335861

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-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid

N-(4-{[(2-amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid

N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid

N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamate

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

nchembio.108-comp10

Nifolin

Nifolin [Denmark]

NINDS_000494

Novofolacid

Novofolacid [Canada]

N-Pteroyl-L-glutamate

N-Pteroyl-L-glutamic acid

NSC 3073

PGA

PGA (VAN)

Prestwick_230

Prestwick3_000627

PteGlu

Pteroylglutamate

Pteroylglutamic acid

Pteroyl-L-glutamate

Pteroyl-L-glutamic acid

Pteroyl-L-monoglutamate

Pteroyl-L-monoglutamic acid

Pteroylmonoglutamate

Pteroylmonoglutamic acid

SAM002264616

SDCCGMLS-0066738.P001

Serum Folate Level

SMP2_000137

SMR000471860

SPBio_001357

Spectrum_001381

SPECTRUM1502020

Spectrum2_001459

Spectrum3_000749

Spectrum4_001751

Spectrum5_000602

UNII-935E97BOY8

Usaf cb-13

Vitamin B11

Vitamin b9

Vitamin B9

Vitamin Bc

Vitamin BC

Vitamin be

Vitamin Be

Vitamin m

Vitamin M

Bucillamine

Investigational

Phase 2

65002-17-7

potassium phosphate

Phase 1, Phase 2

Analgesics

Phase 2

Micronutrients

Phase 2

Analgesics, Non-Narcotic

Phase 2

Thioctic Acid

Phase 2

Trace Elements

Phase 2

Peripheral Nervous System Agents

Phase 2

Vitamin B Complex

Phase 2

Vitamins

Phase 2

Antioxidants

Phase 2

Anti-Inflammatory Agents

Phase 2

Anti-Inflammatory Agents, Non-Steroidal

Phase 2

Calcium, Dietary

Phase 1, Phase 2

cysteine

Nutraceutical

Phase 2

Folate

Nutraceutical

Phase 2

Alpha-lipoic Acid

Nutraceutical

Phase 2

Vitamin B9

Nutraceutical

Phase 2

Phosphorus Supplement

Nutraceutical

Phase 1, Phase 2

Tolvaptan

Approved

Not Applicable

150683-30-0

216237

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

benzazepine derivative, 32

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

Anesthetics

Not Applicable

Hormones

Not Applicable

Natriuretic Agents

Not Applicable

Vasopressins

Not Applicable

Arginine Vasopressin

Not Applicable

Noni

Nutraceutical

Interventional clinical trials:

(show all 17)

#	Name	Status	NCT ID	Phase	Drugs
1	Bone Mineral Density Changes in HIV-positive Females With Osteopenia Switching to Raltegravir	Unknown status	NCT01902186	Phase 4	raltegravir and atazanavir and ritonavir;tenofovir/emtricitabine and atazanavir and ritonavir
2	Effect of Increasing Doses of Cystine Binding Thiol Drugs on Cystine Capacity in Patients With Cystinuria	Completed	NCT02125721	Phase 4	CBTD 0-3 gm
3	Sulfamethoxazole for the Treatment of Primary PREPL Deficiency	Unknown status	NCT02640443	Phase 2	Sulfamethoxazole
4	Use of an Herbal Preparation to Prevent and Dissolve Kidney Stones	Completed	NCT00381849	Phase 1, Phase 2	Cystone;Sugar Pill (Placebo)
5	Role Of Phosphorus And FGF 23 In Patients With Dent Disease	Recruiting	NCT02016235	Phase 1, Phase 2	Phosphorus Supplement
6	Bucillamine Phase 2 Trial in Patients With Cystinuria	Recruiting	NCT02942420	Phase 2	Bucillamine
7	Lipoic Acid Supplement for Cystine Stone	Recruiting	NCT02910531	Phase 2	Placebo
8	PREPL in Health and Disease	Unknown status	NCT02263781	Not Applicable
9	Cystine Capacity Clinical Study (CysCap)	Completed	NCT02120105
10	This Study Evaluates the Superiority of Daily Self-pH Monitorization of Lit-control®pH Meter Compared to the Monitorization of Reactive Strips (Standard of Care).	Recruiting	NCT03539926	Not Applicable
11	TCUPS- Tolvaptan Use in Cyctinuria and Urolithiasis: A Pilot Study	Recruiting	NCT02538016	Not Applicable	Tolvaptan
12	Prospective Research Rare Kidney Stones (ProRKS)	Recruiting	NCT02780297
13	Health-related Quality of Life in Rare Kidney Stone	Recruiting	NCT02124395
14	Rare Kidney Stone Consortium Biobank	Recruiting	NCT02026388
15	Rare Kidney Stone Consortium Patient Registry	Recruiting	NCT00588562
16	Randall's Plaque Study: Pathogenesis and Relationship to Nephrolithiasis	Recruiting	NCT00169806	Not Applicable
17	Incidence of Renal Tubular Acidosis in Nephrology Unit in Assiut University Childern Hospital	Not yet recruiting	NCT03268460

Search NIH Clinical Center for Aminoaciduria

Sources

Genetic Tests for Aminoaciduria

Genetic tests related to Aminoaciduria:

#	Genetic test	Affiliating Genes
1	Aminoaciduria ²⁹

Sources

Anatomical Context for Aminoaciduria

MalaCards organs/tissues related to Aminoaciduria:

⁴¹

Kidney, Bone, Testes, Liver, Eye, Skin, Thyroid

Sources

Publications for Aminoaciduria

Articles related to Aminoaciduria:

(show top 50) (show all 199)

#	Title	Authors	Year
1	Amino Acid (Leucine) Chromatography: A Study of Branched-Chain Aminoaciduria in Type 2 Diabetes. ( 28413737 )	Kolanu B.R....Kandi V.	2017
2	Aminoaciduria Caused by Fanconi Syndrome in a Heifer. ( 28109116 )	Cesbron N....HervAc J.	2017
3	Characterization of aminoaciduria and hypoaminoacidemia in dogs with hepatocutaneous syndrome. ( 28541155 )	Loftus J.P....Lucia T.A.	2017
4	Aminoaciduria in the prediction of ifosfamide-induced tubulopathy after childhood cancer: a feasibility study. ( 27965825 )	Morgan J.E....Phillips R.S.	2016
5	Neutral aminoaciduria in cystathionine I^-synthase-deficient mice; an animal model of homocystinuria. ( 24761004 )	Akahoshi N....Ishii I.	2014
6	Imatinib mesylate induces massive and nonspecific aminoaciduria in CML patients. ( 22287505 )	Ianotto J.C....Berthou C.	2012
7	Aminoaciduria, but normal thyroid hormone levels and signalling, in mice lacking the amino acid and thyroid hormone transporter Slc7a8. ( 21726201 )	Braun D....Schweizer U.	2011
8	Loss-of-function mutations in the glutamate transporter SLC1A1 cause human dicarboxylic aminoaciduria. ( 21123949 )	Bailey C.G....Rasko J.E.	2011
9	A case of Marfans syndrome with aminoaciduria. ( 17700001 )	Udayakumar N....Rajendiran C.	2007
10	Aminoaciduria and altered renal expression of luminal amino acid transporters in mice lacking novel gene collectrin. ( 16985211 )	Malakauskas S.M....Le T.H.	2007
11	Mixed proximal and distal renal tubular acidosis without aminoaciduria in a mare. ( 17939575 )	van der Kolk J.H....Koomans H.A.	2007
12	The molecular basis of neutral aminoacidurias. ( 16052352 )	BrAPer A....BrAPer S.	2006
13	Peeling skin syndrome with aminoaciduria. ( 16060866 )	Inamadar A.C....Palit A.	2005
14	A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria. ( 15610225 )	Magen D....Skorecki K.	2005
15	Pathology of lethal fetal growth retardation syndrome with aminoaciduria, iron overload, and lactic acidosis (GRACILE). ( 11942535 )	Rapola J....Fellman V.	2002
16	Evaluation of aminoaciduria in severely traumatized patients. ( 11750282 )	Liu W....Morris D.M.	2002
17	Antenatal diagnosis of hereditary fetal growth retardation with aminoaciduria, cholestasis, iron overload, and lactic acidosis in the newborn infant. ( 12027811 )	Fellman V....Peltonen L.	2002
18	ABCB6 (MTABC3) excluded as the causative gene for the growth retardation syndrome with aminoaciduria, cholestasis, iron overload, and lactacidosis. ( 11977179 )	VisapAoAo I....Peltonen L.	2002
19	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 )	Bingham C....Hattersley A.T.	2001
20	Heteromeric amino acid transporters explain inherited aminoacidurias. ( 10990376 )	PalacA-n M....Zorzano A.	2000
21	The family of heteromultimeric amino acid transporters reveals aminoaciduria genes. ( 11143989 )	PalacA-n M.	2000
22	The characteristic pattern of aminoaciduria in patients with aristolochic acid-induced Fanconi syndrome: could iminoaciduria be the hallmark of this syndrome? ( 11020017 )	Tanaka A....Kuwahara T.	2000
23	Aminoaciduria resulting from vigabatrin administration in children with epilepsy. ( 10428431 )	Lahat E....Sela B.A.	1999
24	Aminoaciduria in calcium-deficiency rickets in northern Nigeria. ( 10584465 )	Vanderjagt D.J....Glew R.H.	1999
25	Iron-overload disease in infants involving fetal growth retardation, lactic acidosis, liver haemosiderosis, and aminoaciduria. ( 9482441 )	Fellman V....Raivio K.O.	1998
26	Aminoaciduria and glycosuria following severe childhood lead poisoning. ( 9630041 )	Loghman-Adham M.	1998
27	Glutamate transporter EAAC-1-deficient mice develop dicarboxylic aminoaciduria and behavioral abnormalities but no neurodegeneration. ( 9233792 )	Peghini P....Stoffel W.	1997
28	Phosphaturia, glycosuria and aminoaciduria associated with idiopathic acquired sideroblastic anemia. ( 8719550 )	Hanson B....Lustman F.	1995
29	Dicarboxylic aminoaciduria. ( 7707705 )	Kamoun P....Saudubray J.M.	1994
30	Calciuria and aminoaciduria in very low birth weight infants fed a high-mineral premature formula with varying levels of protein. ( 8040780 )	Hillman L.S....Chesney R.	1994
31	Assignment of the gene coding for the human high-affinity glutamate transporter EAAC1 to 9p24: potential role in dicarboxylic aminoaciduria and neurodegenerative disorders. ( 8020993 )	Smith C.P....Hediger M.A.	1994
32	The relationship between aminoaciduria and plasma hemoglobin levels. ( 8130761 )	MogoA9 T....Mincu I.	1993
33	Iminoglycinuria: a benign type of inherited aminoaciduria. ( 7504361 )	CoA9kun T....Tokatli A.	1993
34	Transient glycosuria and aminoaciduria in successful transplantation of infant kidneys to adults. ( 1681256 )	Horina J.H....Pogglitsch H.	1991
35	Aminoaciduria as a marker of acute renal transplant rejection--a patient study. ( 1905600 )	Macpherson N.A....Arbus G.S.	1991
36	Aminoaciduria is an earlier index of renal tubular damage than conventional renal disease markers in the gentamicin-rat model of acute renal failure. ( 2060188 )	Macpherson N.A....GOLDBERG D.M.	1991
37	D-Aminoaciduria in mutant mice lackingD-amino-acid oxidase activity. ( 24194108 )	Konno R....Yasumura Y.	1991
38	Aminoaciduria due to vinyl-GABA administration. ( 2215628 )	Shih V.E....Tenanbaum A.	1990
39	Aminoaciduria of phosphate depletion manifests at the renal brush border membrane. ( 2277606 )	Dabbagh S....Ellis D.	1990
40	Persistent nephrogenic diabetes insipidus, tubular proteinuria, aminoaciduria, and parathyroid hormone resistance following longterm lithium administration. ( 2170960 )	Neithercut W.D....Dagg J.H.	1990
41	Aminoaciduria of severe trauma. ( 2718916 )	Jeevanandam M....Schiller W.R.	1989
42	Dicarboxylic aminoaciduria associated with mental retardation. ( 2567279 )	Swarna M....Reddy P.P.	1989
43	Aminoaciduria of vitamin D deficiency is independent of PTH levels and urinary cyclic AMP. ( 2548072 )	Dabbagh S....Slatopolsky E.	1989
44	Lack of D-amino-acid oxidase activity causes a specific renal aminoaciduria in the mouse. ( 2904279 )	Konno R....Yasumura Y.	1988
45	Asperger's syndrome and aminoaciduria: a case example. ( 3664113 )	Miles S.W....Capelle P.	1987
46	Transient proteinuria and aminoaciduria in rodents following uranium intoxication. ( 3978278 )	Bentley K.W....KERR C.B.	1985
47	Omega-aminoaciduria induced by gamma-vinyl GABA. ( 6142173 )	Brandt N.J....Christensen E.	1984
48	Aminoaciduria with serum and urinary copper in renal diseases. ( 6674185 )	Bimanpalli M.V....Chakravorty B.P.	1983
49	An unusual case of Morquio's syndrome with aminoaciduria. ( 6418710 )	Mehta N.C....Shah N.O.	1983
50	Aminoaciduria in handicapped children: a study using ion-exchange chromatography as a screening test. ( 6165874 )	Redford-Ellis M....HOLZEL A.	1981

Sources

Genes for Aminoaciduria

Genes related to Aminoaciduria (0 elite genes):

(show all 19)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SLC1A1	Solute Carrier Family 1 Member 1	Protein Coding	37.93	GeneCards inferred via : Disorders Publications Variants (show sections)
2	SLC6A19	Solute Carrier Family 6 Member 19	Protein Coding	36.62	Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications (show sections)	17555458 20511718
3	CLCN5	Chloride Voltage-Gated Channel 5	Protein Coding	27.35	Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders (show sections)	9596078
4	SLC5A2	Solute Carrier Family 5 Member 2	Protein Coding	25.26	Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	15610225
5	HNF1A	HNF1 Homeobox A	Protein Coding	22.28	Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	11522670 15270800
6	SLC3A1	Solute Carrier Family 3 Member 1	Protein Coding	20.84	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	11396607 8663357
7	SLC7A9	Solute Carrier Family 7 Member 9	Protein Coding	19.57	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	11396607
8	BCS1L	BCS1 Homolog, Ubiquinol-Cytochrome C Reductase Complex Chaperone	Protein Coding	17.68	GeneCards inferred via : Disorders (show sections)
9	OCRL	OCRL, Inositol Polyphosphate-5-Phosphatase	Protein Coding	17.68	GeneCards inferred via : Disorders (show sections)
10	B2M	Beta-2-Microglobulin	Protein Coding	17.41	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	1582058
11	HNF4A	Hepatocyte Nuclear Factor 4 Alpha	Protein Coding	17.34	GeneCards inferred via : Disorders (show sections)
12	EHHADH	Enoyl-CoA Hydratase And 3-Hydroxyacyl CoA Dehydrogenase	Protein Coding	17.34	GeneCards inferred via : Disorders (show sections)
13	SLC34A1	Solute Carrier Family 34 Member 1	Protein Coding	17.34	GeneCards inferred via : Disorders (show sections)
14	MARS	Methionyl-TRNA Synthetase	Protein Coding	17.34	GeneCards inferred via : Disorders (show sections)
15	MPST	Mercaptopyruvate Sulfurtransferase	Protein Coding	16.68	GeneCards inferred via : Publications (show sections)
16	ABCB6	ATP Binding Cassette Subfamily B Member 6 (Langereis Blood Group)	Protein Coding	16.68	GeneCards inferred via : Publications (show sections)
17	SPATA6L	Spermatogenesis Associated 6 Like	Protein Coding	8.98	GeneCards inferred via : Variants (show sections)
18	CLTRN	Collectrin, Amino Acid Transport Regulator	Protein Coding	6.68	GeneCards inferred via : Publications (show sections)
19	MSD	Microcephaly With Spastic Diplegia (Paine Syndrome)	Genetic Locus	6.68	GeneCards inferred via : Publications (show sections)

Sources

Variations for Aminoaciduria

Sources

Expression for Aminoaciduria

Search GEO for disease gene expression data for Aminoaciduria.

Sources

Pathways for Aminoaciduria

Pathways related to Aminoaciduria according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds ⁶⁶ Show member pathways Bicarbonate transporters ⁶⁶ Cation-coupled Chloride cotransporters ⁶⁶ Class II GLUTs ⁶⁶ Facilitative Na+-independent glucose transporters ⁶⁶ Inositol transporters ⁶⁶ Multifunctional anion exchangers ⁶⁶ Na+/Cl- dependent neurotransmitter transporters ⁶⁶ Na+-dependent glucose transporters ⁶⁶ Organic anion transport ⁶⁶ Organic anion transporters ⁶⁶ Organic cation transport ⁶⁶ Organic cation/anion/zwitterion transport ⁶⁶ Proton/oligopeptide cotransporters ⁶⁶ Proton-coupled monocarboxylate transport ⁶⁶ Rhesus glycoproteins mediate ammonium transport. ⁶⁶ SLC-mediated transmembrane transport ⁶⁶ Sodium/Calcium exchangers ⁶⁶ Sodium/Proton exchangers ⁶⁶ Sodium-coupled phosphate cotransporters ⁶⁶ Sodium-coupled sulphate, di- and tri-carboxylate transporters ⁶⁶ Transmembrane transport of small molecules ⁶⁶ Transport of inorganic cations/anions and amino acids/oligopeptides ⁶⁶ Type II Na+/Pi cotransporters ⁶⁶	12.69	ABCB6 CLCN5 SLC1A1 SLC34A1 SLC3A1 SLC5A2
2	Hepatic ABC Transporters ⁶⁴ Show member pathways MODY (Maturity-Onset Diabetes of Young) ⁶⁴	11.53	CLCN5 HNF1A HNF4A
3	Amino acid transport across the plasma membrane ⁶⁶ Show member pathways Proton-coupled neutral amino acid transporters ⁶⁶	10.32	SLC3A1 SLC6A19 SLC7A9
4	Dichloroethylene metabolism ²²	10.06	HNF1A HNF4A

Sources

GO Terms for Aminoaciduria

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

#	Name	GO ID	Score	Top Affiliating Genes
1	integral component of plasma membrane	GO:0005887	9.7	CLCN5 SLC1A1 SLC34A1 SLC3A1 SLC5A2 SLC6A19
2	extracellular exosome	GO:0070062	9.65	ABCB6 B2M CLTRN MARS MPST OCRL
3	apical plasma membrane	GO:0016324	9.56	SLC1A1 SLC34A1 SLC6A19 SLC7A9
4	brush border membrane	GO:0031526	9.02	CLTRN SLC34A1 SLC3A1 SLC6A19 SLC7A9
5	plasma membrane	GO:0005886	10.06	ABCB6 B2M CLCN5 CLTRN OCRL SLC1A1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	transmembrane transport	GO:0055085	9.63	ABCB6 CLCN5 SLC1A1 SLC5A2 SLC6A19 SLC7A9
2	response to cadmium ion	GO:0046686	9.32	B2M SLC34A1
3	neutral amino acid transport	GO:0015804	9.26	SLC6A19 SLC7A9
4	L-cystine transport	GO:0015811	8.96	SLC3A1 SLC7A9
5	amino acid transport	GO:0006865	8.92	SLC1A1 SLC3A1 SLC6A19 SLC7A9

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

#	Name	GO ID	Score	Top Affiliating Genes
1	neutral amino acid transmembrane transporter activity	GO:0015175	9.26	SLC6A19 SLC7A9
2	symporter activity	GO:0015293	9.26	SLC1A1 SLC34A1 SLC5A2 SLC6A19
3	L-cystine transmembrane transporter activity	GO:0015184	9.16	SLC3A1 SLC7A9
4	amino acid transmembrane transporter activity	GO:0015171	8.92	SLC1A1 SLC3A1 SLC6A19 SLC7A9

Sources

Sources for Aminoaciduria

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia