Aliases & Classifications for Aminoaciduria

MalaCards integrated aliases for Aminoaciduria:

Name: Aminoaciduria 53 29 55 73

Classifications:



External Ids:

UMLS 73 C0238621

Summaries for Aminoaciduria

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 Ritonavir have been mentioned in the context of this disorder. Affiliated tissues include kidney, testes and liver, and related phenotypes are homeostasis/metabolism and growth/size/body region

Related Diseases for Aminoaciduria

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

(show top 50) (show all 91)
# Related Disease Score Top Affiliating Genes
1 dicarboxylic aminoaciduria 34.3 SLC1A1 SPATA6L
2 fanconi syndrome 31.9 CLCN5 EHHADH HNF4A OCRL SLC34A1
3 dent disease 1 31.6 CLCN5 OCRL
4 inborn renal aminoaciduria 12.2
5 gracile syndrome 11.9
6 lysinuric protein intolerance 11.9
7 hartnup disorder 11.7
8 cystinuria 11.3
9 dibasic amino aciduria i 11.2
10 rowley-rosenberg syndrome 11.0
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 10.2 EHHADH SLC34A1
21 rickets 10.2
22 muscular dystrophy 10.2
23 maturity-onset diabetes of the young, type 4 10.2 HNF1A HNF4A
24 maturity-onset diabetes of the young, type 2 10.1 HNF1A HNF4A
25 nephrocalcinosis 10.1 CLCN5 OCRL SLC34A1
26 nephrotic syndrome 10.1
27 hemosiderosis 10.1
28 maturity-onset diabetes of the young, type 3 10.1 HNF1A HNF4A
29 maturity-onset diabetes of the young, type 13 10.1 HNF1A HNF4A
30 pancreatitis, hereditary 10.0
31 aceruloplasminemia 10.0
32 cystinosis 10.0
33 kwashiorkor 10.0
34 epilepsy 10.0
35 lactic acidosis 10.0
36 pancreatitis 10.0
37 dwarfism 10.0
38 fanconi-like syndrome 10.0 B2M SLC5A2
39 maturity-onset diabetes of the young, type 1 10.0 HNF1A HNF4A SLC5A2
40 renal tubular transport disease 10.0 CLCN5 OCRL
41 renal glucosuria 10.0
42 iminoglycinuria 10.0
43 porphyria, acute hepatic 10.0
44 renal tubular acidosis 10.0
45 cholestasis 10.0
46 nephrolithiasis 9.9 CLCN5 SLC34A1 SLC3A1
47 darier-white disease 9.8
48 diabetes insipidus, nephrogenic, autosomal 9.8
49 osteoporosis 9.8
50 hyper-beta-alaninemia 9.8

Graphical network of the top 20 diseases related to Aminoaciduria:



Diseases related to Aminoaciduria

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 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

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
1
Penicillamine Approved Phase 4 52-67-5 4727 5852
2
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
3
Emtricitabine Approved, Investigational Phase 4 143491-57-0 60877
4
Tenofovir Experimental, Investigational Phase 4 147127-20-6 464205
5 Anti-Infective Agents Phase 4,Phase 2
6 Chelating Agents Phase 4
7 Antirheumatic Agents Phase 4,Phase 2
8 Antidotes Phase 4
9 Protective Agents Phase 4,Phase 2
10 HIV Integrase Inhibitors Phase 4
11 Integrase Inhibitors Phase 4
12 Anti-HIV Agents Phase 4
13 Reverse Transcriptase Inhibitors Phase 4
14 HIV Protease Inhibitors Phase 4
15 Raltegravir Potassium Phase 4
16 Cytochrome P-450 Enzyme Inhibitors Phase 4
17 Antiviral Agents Phase 4
18 Anti-Retroviral Agents Phase 4
19 Cytochrome P-450 CYP3A Inhibitors Phase 4
20 Nucleic Acid Synthesis Inhibitors Phase 4
21 Atazanavir Sulfate Phase 4
22
protease inhibitors Phase 4
23
Sulfamethoxazole Approved Phase 2 723-46-6 5329
24
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
25 Bucillamine Investigational Phase 2 65002-17-7
26 potassium phosphate Phase 1, Phase 2
27 Calcium, Dietary Phase 1, Phase 2
28 Phosphorus Supplement Phase 1, Phase 2
29 Analgesics Phase 2
30 Anti-Inflammatory Agents, Non-Steroidal Phase 2
31 Analgesics, Non-Narcotic Phase 2
32 Antioxidants Phase 2
33 Anti-Inflammatory Agents Phase 2
34 Peripheral Nervous System Agents Phase 2
35 cysteine Phase 2
36 Vitamin B Complex Phase 2
37 Vitamins Phase 2
38 Micronutrients Phase 2
39 Thioctic Acid Phase 2
40 Vitamin B9 Phase 2
41 Alpha-lipoic Acid Phase 2
42 Folate Phase 2
43 Trace Elements Phase 2
44
Tolvaptan Approved Not Applicable 150683-30-0 216237
45 Hormones Not Applicable
46 Anesthetics Not Applicable
47 Arginine Vasopressin Not Applicable
48 Natriuretic Agents Not Applicable
49 Vasopressins Not Applicable
50 Noni

Interventional clinical trials:

(show all 18)
# 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 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 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
7 Bucillamine Phase 2 Trial in Patients With Cystinuria Recruiting NCT02942420 Phase 2 Bucillamine
8 Lipoic Acid Supplement for Cystine Stone Recruiting NCT02910531 Phase 2 Placebo
9 PREPL in Health and Disease Unknown status NCT02263781 Not Applicable
10 Cystine Capacity Clinical Study (CysCap) Completed NCT02120105
11 TCUPS- Tolvaptan Use in Cyctinuria and Urolithiasis: A Pilot Study Completed 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 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
18 Incidence of Renal Tubular Acidosis in Nephrology Unit in Assiut University Childern Hospital Not yet recruiting NCT03268460

Search NIH Clinical Center for Aminoaciduria

Genetic Tests for Aminoaciduria

Genetic tests related to Aminoaciduria:

# Genetic test Affiliating Genes
1 Aminoaciduria 29

Anatomical Context for Aminoaciduria

MalaCards organs/tissues related to Aminoaciduria:

41
Kidney, Testes, Liver, Lung, Skin, Bone, Eye

Publications for Aminoaciduria

Articles related to Aminoaciduria:

(show top 50) (show all 200)
# Title Authors Year
1
Amino Acid (Leucine) Chromatography: A Study of Branched-Chain Aminoaciduria in Type 2 Diabetes. ( 28413737 )
2017
2
Aminoaciduria Caused by Fanconi Syndrome in a Heifer. ( 28109116 )
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 I^-synthase-deficient mice; an animal model of homocystinuria. ( 24761004 )
2014
6
Imatinib mesylate induces massive and nonspecific aminoaciduria in CML patients. ( 22287505 )
2012
7
Aminoaciduria, but normal thyroid hormone levels and signalling, in mice lacking the amino acid and thyroid hormone transporter Slc7a8. ( 21726201 )
2011
8
Loss-of-function mutations in the glutamate transporter SLC1A1 cause human dicarboxylic aminoaciduria. ( 21123949 )
2011
9
A case of Marfans syndrome with aminoaciduria. ( 17700001 )
2007
10
Aminoaciduria and altered renal expression of luminal amino acid transporters in mice lacking novel gene collectrin. ( 16985211 )
2007
11
Mixed proximal and distal renal tubular acidosis without aminoaciduria in a mare. ( 17939575 )
2007
12
Peeling skin syndrome with aminoaciduria. ( 16060866 )
2005
13
A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria. ( 15610225 )
2005
14
Pathology of lethal fetal growth retardation syndrome with aminoaciduria, iron overload, and lactic acidosis (GRACILE). ( 11942535 )
2002
15
Evaluation of aminoaciduria in severely traumatized patients. ( 11750282 )
2002
16
Antenatal diagnosis of hereditary fetal growth retardation with aminoaciduria, cholestasis, iron overload, and lactic acidosis in the newborn infant. ( 12027811 )
2002
17
ABCB6 (MTABC3) excluded as the causative gene for the growth retardation syndrome with aminoaciduria, cholestasis, iron overload, and lactacidosis. ( 11977179 )
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 family of heteromultimeric amino acid transporters reveals aminoaciduria genes. ( 11143989 )
2000
20
The characteristic pattern of aminoaciduria in patients with aristolochic acid-induced Fanconi syndrome: could iminoaciduria be the hallmark of this syndrome? ( 11020017 )
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
Calciuria and aminoaciduria in very low birth weight infants fed a high-mineral premature formula with varying levels of protein. ( 8040780 )
1994
29
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
30
The relationship between aminoaciduria and plasma hemoglobin levels. ( 8130761 )
1993
31
Iminoglycinuria: a benign type of inherited aminoaciduria. ( 7504361 )
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
Aminoaciduria due to vinyl-GABA administration. ( 2215628 )
1990
37
Aminoaciduria of phosphate depletion manifests at the renal brush border membrane. ( 2277606 )
1990
38
Persistent nephrogenic diabetes insipidus, tubular proteinuria, aminoaciduria, and parathyroid hormone resistance following longterm lithium administration. ( 2170960 )
1990
39
Aminoaciduria of severe trauma. ( 2718916 )
1989
40
Dicarboxylic aminoaciduria associated with mental retardation. ( 2567279 )
1989
41
Aminoaciduria of vitamin D deficiency is independent of PTH levels and urinary cyclic AMP. ( 2548072 )
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
Aminoaciduria with serum and urinary copper in renal diseases. ( 6674185 )
1983
47
An unusual case of Morquio's syndrome with aminoaciduria. ( 6418710 )
1983
48
Aminoaciduria in handicapped children: a study using ion-exchange chromatography as a screening test. ( 6165874 )
1981
49
Dipropylacetate and aminoaciduria. ( 6766992 )
1980
50
Aminoaciduria in chronic renal failure--its relationship to vitamin D and parathyroid status. ( 6893104 )
1980

Variations for Aminoaciduria

Expression for Aminoaciduria

Search GEO for disease gene expression data for Aminoaciduria.

Pathways for Aminoaciduria

Pathways related to Aminoaciduria according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.69 ABCB6 CLCN5 SLC1A1 SLC34A1 SLC3A1 SLC5A2
2
Show member pathways
11.53 CLCN5 HNF1A HNF4A
3
Show member pathways
10.32 SLC3A1 SLC6A19 SLC7A9
4 10.06 HNF1A HNF4A

GO Terms for Aminoaciduria

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 L-alpha-amino acid transmembrane transport GO:1902475 9.32 SLC3A1 SLC7A9
4 neutral amino acid transport GO:0015804 9.26 SLC6A19 SLC7A9
5 L-cystine transport GO:0015811 9.16 SLC3A1 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 8.92 SLC1A1 SLC3A1 SLC6A19 SLC7A9

Sources for Aminoaciduria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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