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MCID: AMN006
MIFTS: 41

Aminoaciduria

Categories: Nephrological diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Aminoaciduria

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MalaCards integrated aliases for Aminoaciduria:

Name: Aminoaciduria 54 30 56 74

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Nephrological diseases
See all MalaCards categories (disease lists)


External Ids:

UMLS 74 C0238621
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Summaries for Aminoaciduria

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MalaCards based summary : Aminoaciduria is related to dicarboxylic aminoaciduria and fanconi syndrome. 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 Penicillamine and Emtricitabine have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and liver, and related phenotypes are homeostasis/metabolism and growth/size/body region

Wikipedia : 77 Aminoaciduria occurs when the urine contains abnormally high amounts of amino acids. In the healthy... more...

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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 100)
# Related Disease Score Top Affiliating Genes
1 dicarboxylic aminoaciduria 34.6 SLC1A1 SPATA6L
2 fanconi syndrome 31.9 CLCN5 EHHADH HNF4A OCRL SLC34A1
3 dent disease 1 31.7 CLCN5 OCRL
4 inborn renal aminoaciduria 12.3
5 gracile syndrome 11.9
6 hartnup disorder 11.8
7 lysinuric protein intolerance 11.4
8 cystinuria 11.4
9 dibasic amino aciduria i 11.2
10 rowley-rosenberg syndrome 11.1
11 fanconi renotubular syndrome 1 11.0
12 arthrogryposis, renal dysfunction, and cholestasis 1 11.0
13 galactose epimerase deficiency 11.0
14 dent disease 2 11.0
15 lowe oculocerebrorenal syndrome 11.0
16 fanconi renotubular syndrome 2 11.0
17 interstitial lung and liver disease 11.0
18 fanconi renotubular syndrome 3 11.0
19 fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 11.0
20 primary fanconi syndrome 10.3 EHHADH SLC34A1
21 maturity-onset diabetes of the young, type 4 10.2 HNF1A HNF4A
22 maturity-onset diabetes of the young, type 2 10.2 HNF1A HNF4A
23 rickets 10.2
24 muscular dystrophy 10.2
25 nephrocalcinosis 10.2 CLCN5 OCRL SLC34A1
26 maturity-onset diabetes of the young, type 3 10.2 HNF1A HNF4A
27 nephrotic syndrome 10.1
28 hemosiderosis 10.1
29 dwarfism 10.1
30 maturity-onset diabetes of the young, type 13 10.1 HNF1A HNF4A
31 pancreatitis, hereditary 10.1
32 renal glucosuria 10.1
33 aceruloplasminemia 10.1
34 cystinosis 10.1
35 kwashiorkor 10.1
36 epilepsy 10.1
37 lactic acidosis 10.1
38 pancreatitis 10.1
39 fanconi-like syndrome 10.0 B2M SLC5A2
40 maturity-onset diabetes of the young, type 1 10.0 HNF1A HNF4A SLC5A2
41 renal tubular transport disease 10.0 CLCN5 OCRL
42 iminoglycinuria 10.0
43 wilson disease 10.0
44 porphyria, acute hepatic 10.0
45 cataract 10.0
46 renal tubular acidosis 10.0
47 cholestasis 10.0
48 nephrolithiasis 9.9 CLCN5 SLC34A1 SLC3A1
49 burkitt lymphoma 9.8
50 caffey disease 9.8

Graphical network of the top 20 diseases related to Aminoaciduria:



Diseases related to Aminoaciduria
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Symptoms & Phenotypes for Aminoaciduria

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MGI Mouse Phenotypes related to Aminoaciduria:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.06 ABCB6 B2M BCS1L CLCN5 CLTRN EHHADH
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 B2M BCS1L CLCN5 EHHADH HNF1A HNF4A
5 renal/urinary system MP:0005367 9.36 BCS1L CLCN5 CLTRN HNF1A OCRL SLC1A1
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Drugs & Therapeutics for Aminoaciduria

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

(show top 50) (show all 63)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Penicillamine Approved Phase 4 52-67-5 4727 5852
2
Emtricitabine Approved, Investigational Phase 4 143491-57-0 60877
3
Tenofovir Approved, Experimental, Investigational Phase 4 147127-20-6 464205
4
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
5 Antirheumatic Agents Phase 4,Phase 2
6 Protective Agents Phase 4,Phase 2
7 Anti-Infective Agents Phase 4,Phase 2
8 Antidotes Phase 4
9 Chelating Agents Phase 4
10 Cytochrome P-450 CYP3A Inhibitors Phase 4
11
protease inhibitors Phase 4
12 Anti-HIV Agents Phase 4
13 Integrase Inhibitors Phase 4
14 HIV Protease Inhibitors Phase 4
15 Anti-Retroviral Agents Phase 4
16 Cytochrome P-450 Enzyme Inhibitors Phase 4
17 Reverse Transcriptase Inhibitors Phase 4
18 Raltegravir Potassium Phase 4
19 Atazanavir Sulfate Phase 4
20 HIV Integrase Inhibitors Phase 4
21 Antiviral Agents Phase 4
22 Nucleic Acid Synthesis Inhibitors Phase 4
23
Sulfamethoxazole Approved Phase 2 723-46-6 5329
24
Calcium Approved, Nutraceutical Phase 1, Phase 2 7440-70-2 271
25
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
26 Bucillamine Investigational Phase 2 65002-17-7
27 Analgesics, Non-Narcotic Phase 2
28 Analgesics Phase 2
29 Peripheral Nervous System Agents Phase 2
30 Anti-Inflammatory Agents, Non-Steroidal Phase 2
31 Anti-Inflammatory Agents Phase 2
32 Antioxidants Phase 2
33 cysteine Phase 2
34 Phosphorus Supplement Phase 1, Phase 2
35 potassium phosphate Phase 1, Phase 2
36 Calcium, Dietary Phase 1, Phase 2
37 Thioctic Acid Phase 2
38 Vitamins Phase 2
39 Trace Elements Phase 2
40 Nutrients Phase 2
41 Folate Phase 2
42 Vitamin B Complex Phase 2
43 Alpha-lipoic Acid Phase 2
44 Micronutrients Phase 2
45 Vitamin B9 Phase 2
46
Tolvaptan Approved Not Applicable 150683-30-0 216237
47
Potassium Citrate Approved, Investigational, Vet_approved
48
Sodium Citrate Approved, Investigational 68-04-2
49
carbamide peroxide Approved 124-43-6
50
Citric Acid Approved, Nutraceutical, Vet_approved 77-92-9 311

Interventional clinical trials:

(show all 20)
# Name Status NCT ID Phase Drugs
1 Effect of Increasing Doses of Cystine Binding Thiol Drugs on Cystine Capacity in Patients With Cystinuria Completed NCT02125721 Phase 4 CBTD 0-3 gm
2 Bone Mineral Density Changes in HIV-positive Females With Osteopenia Switching to Raltegravir Terminated NCT01902186 Phase 4 raltegravir and atazanavir and ritonavir;tenofovir/emtricitabine and atazanavir and ritonavir
3 Bucillamine Phase 2 Trial in Patients With Cystinuria Unknown status NCT02942420 Phase 2 Bucillamine
4 Sulfamethoxazole for the Treatment of Primary PREPL Deficiency Unknown status NCT02640443 Phase 2 Sulfamethoxazole
5 Use of an Herbal Preparation to Prevent and Dissolve Kidney Stones Completed NCT00381849 Phase 1, Phase 2 Cystone;Sugar Pill (Placebo)
6 Role Of Phosphorus And FGF 23 In Patients With Dent Disease Recruiting NCT02016235 Phase 1, Phase 2 Phosphorus Supplement
7 Effect of Increasing Doses of Tiopronin on Cystine Capacity in Patients With Cystinuria Recruiting NCT03663855 Phase 2 7 Days Tiopronin;500 mg Tiopronin;1 grams per day of Tiopronin;2 grams per day of Tiopronin
8 Lipoic Acid Supplement for Cystine Stone Recruiting NCT02910531 Phase 2 Placebo
9 PREPL in Health and Disease Unknown status NCT02263781 Not Applicable
10 Evaluation of Arginine in Periodontal and Cardiovascular Disease Completed NCT03873948
11 Cystine Capacity Clinical Study (CysCap) Completed NCT02120105
12 TCUPS- Tolvaptan Use in Cyctinuria and Urolithiasis: A Pilot Study Completed NCT02538016 Not Applicable Tolvaptan
13 Effect of Urine Alkalinazation on Urinary Inflammatory Markers in Patients With Cystinuria Recruiting NCT03836144
14 Prospective Research Rare Kidney Stones (ProRKS) Recruiting NCT02780297
15 Health-related Quality of Life in Rare Kidney Stone Recruiting NCT02124395
16 Rare Kidney Stone Consortium Biobank Recruiting NCT02026388
17 Rare Kidney Stone Consortium Patient Registry Recruiting NCT00588562
18 Randall's Plaque Study: Pathogenesis and Relationship to Nephrolithiasis Recruiting NCT00169806 Not Applicable
19 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). Active, not recruiting NCT03539926 Not Applicable
20 Incidence of Renal Tubular Acidosis in Nephrology Unit in Assiut University Childern Hospital Not yet recruiting NCT03268460

Search NIH Clinical Center for Aminoaciduria

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Genetic Tests for Aminoaciduria

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Genetic tests related to Aminoaciduria:

# Genetic test Affiliating Genes
1 Aminoaciduria 30
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Anatomical Context for Aminoaciduria

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MalaCards organs/tissues related to Aminoaciduria:

42
Kidney, Bone, Liver, Lung, Testes, Eye, Thyroid
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Publications for Aminoaciduria

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Articles related to Aminoaciduria:

(show top 50) (show all 201)
# Title Authors Year
1
Aminoaciduria Caused by Fanconi Syndrome in a Heifer. ( 28109116 )
2017
2
Amino Acid (Leucine) Chromatography: A Study of Branched-Chain Aminoaciduria in Type 2 Diabetes. ( 28413737 )
2017
3
Characterization of aminoaciduria and hypoaminoacidemia in dogs with hepatocutaneous syndrome. ( 28541155 )
2017
4
Aminoaciduria in the prediction of ifosfamide-induced tubulopathy after childhood cancer: a feasibility study. ( 27965825 )
2016
5
Neutral aminoaciduria in cystathionine β-synthase-deficient mice; an animal model of homocystinuria. ( 24761004 )
2014
6
Imatinib mesylate induces massive and nonspecific aminoaciduria in CML patients. ( 22287505 )
2012
7
Loss-of-function mutations in the glutamate transporter SLC1A1 cause human dicarboxylic aminoaciduria. ( 21123949 )
2011
8
Aminoaciduria, but normal thyroid hormone levels and signalling, in mice lacking the amino acid and thyroid hormone transporter Slc7a8. ( 21726201 )
2011
9
Aminoaciduria and altered renal expression of luminal amino acid transporters in mice lacking novel gene collectrin. ( 16985211 )
2007
10
A case of Marfans syndrome with aminoaciduria. ( 17700001 )
2007
11
Mixed proximal and distal renal tubular acidosis without aminoaciduria in a mare. ( 17939575 )
2007
12
A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria. ( 15610225 )
2005
13
Peeling skin syndrome with aminoaciduria. ( 16060866 )
2005
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
ABCB6 (MTABC3) excluded as the causative gene for the growth retardation syndrome with aminoaciduria, cholestasis, iron overload, and lactacidosis. ( 11977179 )
2002
17
Antenatal diagnosis of hereditary fetal growth retardation with aminoaciduria, cholestasis, iron overload, and lactic acidosis in the newborn infant. ( 12027811 )
2002
18
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
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
The family of heteromultimeric amino acid transporters reveals aminoaciduria genes. ( 11143989 )
2000
21
Aminoaciduria resulting from vigabatrin administration in children with epilepsy. ( 10428431 )
1999
22
Aminoaciduria in calcium-deficiency rickets in northern Nigeria. ( 10584465 )
1999
23
Iron-overload disease in infants involving fetal growth retardation, lactic acidosis, liver haemosiderosis, and aminoaciduria. ( 9482441 )
1998
24
Aminoaciduria and glycosuria following severe childhood lead poisoning. ( 9630041 )
1998
25
Glutamate transporter EAAC-1-deficient mice develop dicarboxylic aminoaciduria and behavioral abnormalities but no neurodegeneration. ( 9233792 )
1997
26
Phosphaturia, glycosuria and aminoaciduria associated with idiopathic acquired sideroblastic anemia. ( 8719550 )
1995
27
Dicarboxylic aminoaciduria. ( 7707705 )
1994
28
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
29
Calciuria and aminoaciduria in very low birth weight infants fed a high-mineral premature formula with varying levels of protein. ( 8040780 )
1994
30
Iminoglycinuria: a benign type of inherited aminoaciduria. ( 7504361 )
1993
31
The relationship between aminoaciduria and plasma hemoglobin levels. ( 8130761 )
1993
32
Transient glycosuria and aminoaciduria in successful transplantation of infant kidneys to adults. ( 1681256 )
1991
33
Aminoaciduria as a marker of acute renal transplant rejection--a patient study. ( 1905600 )
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
D-Aminoaciduria in mutant mice lackingD-amino-acid oxidase activity. ( 24194108 )
1991
36
Persistent nephrogenic diabetes insipidus, tubular proteinuria, aminoaciduria, and parathyroid hormone resistance following longterm lithium administration. ( 2170960 )
1990
37
Aminoaciduria due to vinyl-GABA administration. ( 2215628 )
1990
38
Aminoaciduria of phosphate depletion manifests at the renal brush border membrane. ( 2277606 )
1990
39
Aminoaciduria of vitamin D deficiency is independent of PTH levels and urinary cyclic AMP. ( 2548072 )
1989
40
Dicarboxylic aminoaciduria associated with mental retardation. ( 2567279 )
1989
41
Aminoaciduria of severe trauma. ( 2718916 )
1989
42
Lack of D-amino-acid oxidase activity causes a specific renal aminoaciduria in the mouse. ( 2904279 )
1988
43
Asperger's syndrome and aminoaciduria: a case example. ( 3664113 )
1987
44
Transient proteinuria and aminoaciduria in rodents following uranium intoxication. ( 3978278 )
1985
45
Omega-aminoaciduria induced by gamma-vinyl GABA. ( 6142173 )
1984
46
An unusual case of Morquio's syndrome with aminoaciduria. ( 6418710 )
1983
47
Aminoaciduria with serum and urinary copper in renal diseases. ( 6674185 )
1983
48
Aminoaciduria in handicapped children: a study using ion-exchange chromatography as a screening test. ( 6165874 )
1981
49
Effect of calciotropic hormones and cyclic nucleotides on aminoaciduria and phosphaturia. ( 6247689 )
1980
50
Dipropylacetate and aminoaciduria. ( 6766992 )
1980
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Variations for Aminoaciduria

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Expression for Aminoaciduria

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Search GEO for disease gene expression data for Aminoaciduria.
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Pathways for Aminoaciduria

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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 67
Show member pathways
 12.69 ABCB6 CLCN5 SLC1A1 SLC34A1 SLC3A1 SLC5A2
2
Hepatic ABC Transporters 65
Show member pathways
 11.53 CLCN5 HNF1A HNF4A
3
Amino acid transport across the plasma membrane 67
Show member pathways
 10.32 SLC3A1 SLC6A19 SLC7A9
4
Dichloroethylene metabolism 23
10.06 HNF1A HNF4A
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GO Terms for Aminoaciduria

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.61 ABCB6 B2M CLTRN MARS MPST SLC1A1
2 apical plasma membrane GO:0016324 9.46 SLC1A1 SLC34A1 SLC6A19 SLC7A9
3 brush border membrane GO:0031526 8.92 SLC34A1 SLC3A1 SLC6A19 SLC7A9
4 plasma membrane GO:0005886 10 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 9.43 ABCB6 CLCN5 SLC1A1 SLC5A2 SLC6A19 SLC7A9
2 response to cadmium ion GO:0046686 9.37 B2M SLC34A1
3 neutral amino acid transport GO:0015804 9.26 SLC6A19 SLC7A9
4 L-cystine transport GO:0015811 9.16 SLC3A1 SLC7A9
5 L-alpha-amino acid transmembrane transport GO:1902475 9.02 SLC7A9
6 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 8.8 SLC3A1 SLC6A19 SLC7A9
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Sources for Aminoaciduria

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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