Aliases & Classifications for Aminoaciduria

MalaCards integrated aliases for Aminoaciduria:

Name: Aminoaciduria 49 28 51 69

Classifications:



External Ids:

UMLS 69 C0238621

Summaries for Aminoaciduria

MalaCards based summary : Aminoaciduria is related to fanconi syndrome and hypophosphatemic rickets, x-linked recessive. An important gene associated with Aminoaciduria is SLC6A19 (Solute Carrier Family 6 Member 19), 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 Chelating Agents 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

Wikipedia : 72 Aminoaciduria occurs when the urine contains abnormally high amounts of amino acids. In the healthy... more...

Related Diseases for Aminoaciduria

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

(show top 50) (show all 95)
# Related Disease Score Top Affiliating Genes
1 fanconi syndrome 31.4 CLCN5 EHHADH HNF4A OCRL SLC34A1
2 hypophosphatemic rickets, x-linked recessive 29.6 CLCN5 SLC34A1
3 dicarboxylic aminoaciduria 12.5
4 inborn renal aminoaciduria 12.1
5 lysinuric protein intolerance 11.7
6 gracile syndrome 11.7
7 hartnup disorder 11.6
8 cystinuria 11.2
9 fanconi renotubular syndrome 1 11.1
10 dibasic amino aciduria i 11.0
11 lowe oculocerebrorenal syndrome 11.0
12 rowley-rosenberg syndrome 10.9
13 galactose epimerase deficiency 10.8
14 dent disease 1 10.8
15 dent disease 2 10.8
16 fanconi renotubular syndrome 2 10.8
17 interstitial lung and liver disease 10.8
18 fanconi renotubular syndrome 3 10.8
19 fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 10.8
20 primary fanconi syndrome 10.3 EHHADH SLC34A1
21 monogenic diabetes 10.2 HNF1A HNF4A
22 rickets 10.0
23 muscular dystrophy 10.0
24 renal tubular transport disease 10.0 CLCN5 OCRL
25 ataxia and polyneuropathy, adult-onset 9.9
26 nephrotic syndrome 9.9
27 hemosiderosis 9.9
28 renal glucosuria 9.9
29 aceruloplasminemia 9.9
30 ataxia-oculomotor apraxia 3 9.9
31 cystinosis 9.9
32 kwashiorkor 9.9
33 epilepsy 9.9
34 lactic acidosis 9.9
35 dwarfism 9.9
36 nephrolithiasis 9.8 CLCN5 SLC34A1 SLC3A1
37 pancreatitis, hereditary 9.8
38 iminoglycinuria 9.8
39 porphyria, acute hepatic 9.8
40 cataract 9.8
41 hepatitis 9.8
42 renal tubular acidosis 9.8
43 cholestasis 9.8
44 pancreatitis 9.8
45 darier-white disease 9.6
46 diabetes insipidus, nephrogenic, autosomal 9.6
47 marfan syndrome 9.6
48 osteoporosis 9.6
49 chromosome 2q35 duplication syndrome 9.6
50 diaminopentanuria 9.6

Graphical network of the top 20 diseases related to Aminoaciduria:



Diseases related to Aminoaciduria

Symptoms & Phenotypes for Aminoaciduria

MGI Mouse Phenotypes related to Aminoaciduria:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.06 OCRL SLC1A1 SLC34A1 SLC3A1 SLC5A2 SLC6A19
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 HNF1A HNF4A B2M BCS1L CLCN5 EHHADH
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 34)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Penicillamine Approved Phase 4 52-67-5 4727 5852
2 Chelating Agents Phase 4
3 Antidotes Phase 4
4 Protective Agents Phase 4,Phase 2
5 Antirheumatic Agents Phase 4,Phase 2
6
Sulfamethoxazole Approved Phase 2 723-46-6 5329
7
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
8 Bucillamine Investigational Phase 2 65002-17-7
9 Anti-Infective Agents Phase 2
10 potassium phosphate Phase 1, Phase 2
11 Analgesics Phase 2
12 Micronutrients Phase 2
13 Thioctic Acid Phase 2
14 Trace Elements Phase 2
15 Analgesics, Non-Narcotic Phase 2
16 Vitamin B Complex Phase 2
17 Vitamins Phase 2
18 Peripheral Nervous System Agents Phase 2
19 Anti-Inflammatory Agents Phase 2
20 Anti-Inflammatory Agents, Non-Steroidal Phase 2
21 Antioxidants Phase 2
22 Calcium, Dietary Phase 1, Phase 2
23 cysteine Nutraceutical Phase 2
24 Folate Nutraceutical Phase 2
25 Alpha-lipoic Acid Nutraceutical Phase 2
26 Vitamin B9 Nutraceutical Phase 2
27 Phosphorus Supplement Nutraceutical Phase 1, Phase 2
28
Tolvaptan Approved 150683-30-0 216237
29 Anesthetics
30 Hormones
31 Natriuretic Agents
32 Vasopressins
33 Arginine Vasopressin
34 Noni Nutraceutical

Interventional clinical trials:

(show all 15)

# 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 Sulfamethoxazole for the Treatment of Primary PREPL Deficiency Unknown status NCT02640443 Phase 2 Sulfamethoxazole
3 Use of an Herbal Preparation to Prevent and Dissolve Kidney Stones Completed NCT00381849 Phase 1, Phase 2 Cystone;Sugar Pill (Placebo)
4 Role Of Phosphorus And FGF 23 In Patients With Dent Disease Recruiting NCT02016235 Phase 1, Phase 2 Phosphorus Supplement
5 Bucillamine Phase 2 Trial in Patients With Cystinuria Recruiting NCT02942420 Phase 2 Bucillamine
6 Lipoic Acid Supplement for Cystine Stone Recruiting NCT02910531 Phase 2 Placebo
7 PREPL in Health and Disease Unknown status NCT02263781
8 TCUPS- Tolvaptan Use in Cyctinuria and Urolithiasis: A Pilot Study Recruiting NCT02538016 Tolvaptan
9 Prospective Research Rare Kidney Stones (ProRKS) Recruiting NCT02780297
10 Health-related Quality of Life in Rare Kidney Stone Recruiting NCT02124395
11 Rare Kidney Stone Consortium Biobank Recruiting NCT02026388
12 Rare Kidney Stone Consortium Patient Registry Recruiting NCT00588562
13 Randall's Plaque Study: Pathogenesis and Relationship to Nephrolithiasis Recruiting NCT00169806
14 Cystine Capacity Clinical Study (CysCap) Active, not recruiting NCT02120105
15 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 28

Anatomical Context for Aminoaciduria

MalaCards organs/tissues related to Aminoaciduria:

38
Kidney, Testes, Liver, Bone, Skin, Thyroid, Lung

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 )
2017
2
Characterization of aminoaciduria and hypoaminoacidemia in dogs with hepatocutaneous syndrome. ( 28541155 )
2017
3
Aminoaciduria Caused by Fanconi Syndrome in a Heifer. ( 28109116 )
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
Mixed proximal and distal renal tubular acidosis without aminoaciduria in a mare. ( 17939575 )
2007
11
Aminoaciduria and altered renal expression of luminal amino acid transporters in mice lacking novel gene collectrin. ( 16985211 )
2007
12
The molecular basis of neutral aminoacidurias. ( 16052352 )
2006
13
Peeling skin syndrome with aminoaciduria. ( 16060866 )
2005
14
A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria. ( 15610225 )
2005
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
Pathology of lethal fetal growth retardation syndrome with aminoaciduria, iron overload, and lactic acidosis (GRACILE). ( 11942535 )
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 )
2001
20
The family of heteromultimeric amino acid transporters reveals aminoaciduria genes. ( 11143989 )
2000
21
The characteristic pattern of aminoaciduria in patients with aristolochic acid-induced Fanconi syndrome: could iminoaciduria be the hallmark of this syndrome? ( 11020017 )
2000
22
Heteromeric amino acid transporters explain inherited aminoacidurias. ( 10990376 )
2000
23
Aminoaciduria resulting from vigabatrin administration in children with epilepsy. ( 10428431 )
1999
24
Aminoaciduria in calcium-deficiency rickets in northern Nigeria. ( 10584465 )
1999
25
Aminoaciduria and glycosuria following severe childhood lead poisoning. ( 9630041 )
1998
26
Iron-overload disease in infants involving fetal growth retardation, lactic acidosis, liver haemosiderosis, and aminoaciduria. ( 9482441 )
1998
27
Glutamate transporter EAAC-1-deficient mice develop dicarboxylic aminoaciduria and behavioral abnormalities but no neurodegeneration. ( 9233792 )
1997
28
Phosphaturia, glycosuria and aminoaciduria associated with idiopathic acquired sideroblastic anemia. ( 8719550 )
1995
29
Calciuria and aminoaciduria in very low birth weight infants fed a high-mineral premature formula with varying levels of protein. ( 8040780 )
1994
30
Dicarboxylic aminoaciduria. ( 7707705 )
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 )
1994
32
The relationship between aminoaciduria and plasma hemoglobin levels. ( 8130761 )
1993
33
Iminoglycinuria: a benign type of inherited aminoaciduria. ( 7504361 )
1993
34
Transient glycosuria and aminoaciduria in successful transplantation of infant kidneys to adults. ( 1681256 )
1991
35
D-Aminoaciduria in mutant mice lackingD-amino-acid oxidase activity. ( 24194108 )
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 )
1991
37
Aminoaciduria as a marker of acute renal transplant rejection--a patient study. ( 1905600 )
1991
38
Persistent nephrogenic diabetes insipidus, tubular proteinuria, aminoaciduria, and parathyroid hormone resistance following longterm lithium administration. ( 2170960 )
1990
39
Aminoaciduria due to vinyl-GABA administration. ( 2215628 )
1990
40
Aminoaciduria of phosphate depletion manifests at the renal brush border membrane. ( 2277606 )
1990
41
Aminoaciduria of severe trauma. ( 2718916 )
1989
42
Dicarboxylic aminoaciduria associated with mental retardation. ( 2567279 )
1989
43
Aminoaciduria of vitamin D deficiency is independent of PTH levels and urinary cyclic AMP. ( 2548072 )
1989
44
Lack of D-amino-acid oxidase activity causes a specific renal aminoaciduria in the mouse. ( 2904279 )
1988
45
Asperger's syndrome and aminoaciduria: a case example. ( 3664113 )
1987
46
Transient proteinuria and aminoaciduria in rodents following uranium intoxication. ( 3978278 )
1985
47
Omega-aminoaciduria induced by gamma-vinyl GABA. ( 6142173 )
1984
48
An unusual case of Morquio's syndrome with aminoaciduria. ( 6418710 )
1983
49
Aminoaciduria with serum and urinary copper in renal diseases. ( 6674185 )
1983
50
Aminoaciduria in handicapped children: a study using ion-exchange chromatography as a screening test. ( 6165874 )
1981

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 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 brush border membrane GO:0031526 9.02 CLTRN SLC34A1 SLC3A1 SLC6A19 SLC7A9

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

# Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.76 ABCB6 CLCN5 SLC1A1 SLC34A1 SLC3A1 SLC5A2
2 transmembrane transport GO:0055085 9.72 ABCB6 CLCN5 SLC1A1 SLC5A2 SLC6A19
3 response to cadmium ion GO:0046686 9.4 B2M SLC34A1
4 amino acid transmembrane transport GO:0003333 9.37 SLC6A19 SLC7A9
5 neutral amino acid transport GO:0015804 9.26 SLC6A19 SLC7A9
6 L-cystine transport GO:0015811 8.96 SLC3A1 SLC7A9
7 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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