MCID: AMN006
MIFTS: 41

Aminoaciduria malady

Categories: Rare diseases

Aliases & Classifications for Aminoaciduria

Aliases & Descriptions for Aminoaciduria:

Name: Aminoaciduria 50 29 52 69

Classifications:



Summaries for Aminoaciduria

MalaCards based summary : Aminoaciduria is related to dicarboxylic aminoaciduria and inborn renal aminoaciduria. 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 Sulfamethoxazole and Folic Acid have been mentioned in the context of this disorder. Affiliated tissues include liver, testes and kidney, and related phenotypes are homeostasis/metabolism and growth/size/body region

Wikipedia : 71 Aminoaciduria is the presence of amino acids in the urine. Small amounts of amino acids are also present... more...

Related Diseases for Aminoaciduria

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

(show top 50) (show all 78)
id Related Disease Score Top Affiliating Genes
1 dicarboxylic aminoaciduria 12.3
2 inborn renal aminoaciduria 11.8
3 lysinuric protein intolerance 11.6
4 gracile syndrome 11.6
5 hartnup disorder 11.5
6 fanconi syndrome 11.1
7 cystinuria 11.0
8 dibasic amino aciduria i 10.9
9 lowe syndrome 10.8
10 rowley-rosenberg syndrome 10.8
11 fanconi renotubular syndrome 1 10.7
12 fanconi renotubular syndrome 4, with maturity-onset diabetes of the young 10.7
13 dent disease 10.7
14 dent disease 2 10.7
15 fanconi renotubular syndrome 3 10.7
16 fanconi renotubular syndrome 2 10.7
17 proximal renal tubular acidosis 10.7
18 interstitial lung and liver disease 10.7
19 diarrhea 5, with tufting enteropathy, congenital 10.2 SLC3A1 SLC7A9
20 dyskeratosis congenita, autosomal dominant 2 10.0 SLC6A19 TMEM27
21 progeria variant syndrome ruvalcaba type 10.0 EHHADH SLC34A1
22 glycogen storage disease vii 10.0 MARS MIR6758
23 muscular dystrophy 9.9
24 rickets 9.9
25 progressive muscular dystrophy 9.9
26 ataxia 9.9
27 nephrotic syndrome 9.9
28 newborn respiratory distress syndrome 9.8 CLCN5 SLC34A1 SLC3A1
29 epilepsy 9.8
30 dwarfism 9.8
31 cerebellar ataxia 9.8
32 lactic acidosis 9.8
33 kwashiorkor 9.8
34 renal glucosuria 9.7
35 pancreatitis 9.7
36 cataract 9.7
37 cholestasis 9.7
38 hepatitis 9.7
39 renal tubular acidosis 9.7
40 interstitial nephritis 9.6 CLCN5 EHHADH HNF4A OCRL SLC34A1
41 lymphoma 9.6
42 marfan syndrome 9.6
43 peeling skin syndrome 9.6
44 hyperostosis 9.6
45 chronic mucocutaneous candidiasis 9.6
46 hyperprolinemia 9.6
47 corneal dystrophy 9.6
48 cystinosis 9.6
49 dermatitis 9.6
50 hypophosphatemic rickets 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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.06 ABCB6 B2M BCS1L CLCN5 EHHADH HNF1A
2 growth/size/body region MP:0005378 10.03 B2M BCS1L CLCN5 EHHADH HNF1A HNF4A
3 liver/biliary system MP:0005370 9.43 B2M BCS1L CLCN5 EHHADH HNF1A HNF4A
4 renal/urinary system MP:0005367 9.36 BCS1L CLCN5 HNF1A OCRL SLC1A1 SLC34A1

Drugs & Therapeutics for Aminoaciduria

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

(show all 34)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sulfamethoxazole Approved Phase 2 723-46-6 5329
2
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
3 bucillamine Phase 2
4 potassium phosphate Phase 1, Phase 2
5 Analgesics Phase 2
6 Analgesics, Non-Narcotic Phase 2
7 Peripheral Nervous System Agents Phase 2
8 Protective Agents Phase 2
9 Anti-Inflammatory Agents Phase 2
10 Anti-Inflammatory Agents, Non-Steroidal Phase 2
11 Antirheumatic Agents Phase 2
12 Antioxidants Phase 2
13 Calcium, Dietary Phase 1, Phase 2
14 Anti-Infective Agents Phase 2
15 Thioctic Acid Phase 2
16 Trace Elements Phase 2
17 Vitamin B Complex Phase 2
18 Vitamins Phase 2
19 Micronutrients Phase 2
20 cysteine Nutraceutical Phase 2
21 Phosphorus Supplement Nutraceutical Phase 1, Phase 2
22 Folate Nutraceutical Phase 2
23 Alpha-lipoic Acid Nutraceutical Phase 2
24 Vitamin B9 Nutraceutical Phase 2
25
Penicillamine Approved 52-67-5 5852 4727
26
Tolvaptan Approved 150683-30-0 216237
27 Anesthetics
28 Hormones
29 Chelating Agents
30 Antidotes
31 Natriuretic Agents
32 Vasopressins
33 Arginine Vasopressin
34 Noni Nutraceutical

Interventional clinical trials:

(show all 14)
id Name Status NCT ID Phase
1 Use of an Herbal Preparation to Prevent and Dissolve Kidney Stones Completed NCT00381849 Phase 1, Phase 2
2 Role Of Phosphorus And FGF 23 In Patients With Dent Disease Recruiting NCT02016235 Phase 1, Phase 2
3 Bucillamine Phase 2 Trial in Patients With Cystinuria Recruiting NCT02942420 Phase 2
4 Sulfamethoxazole for the Treatment of Primary PREPL Deficiency Enrolling by invitation NCT02640443 Phase 2
5 Lipoic Acid Supplement for Cystine Stone Not yet recruiting NCT02910531 Phase 2
6 PREPL in Health and Disease Unknown status NCT02263781
7 Randall's Plaque Study: Pathogenesis and Relationship to Nephrolithiasis Recruiting NCT00169806
8 Prospective Research Rare Kidney Stones (ProRKS) Recruiting NCT02780297
9 Health-related Quality of Life in Rare Kidney Stone Recruiting NCT02124395
10 Rare Kidney Stone Consortium Biobank Recruiting NCT02026388
11 Rare Kidney Stone Consortium Patient Registry Recruiting NCT00588562
12 Cystine Capacity Clinical Study (CysCap) Active, not recruiting NCT02120105
13 Effect of Increasing Doses of Cystine Binding Thiol Drugs on Cystine Capacity in Patients With Cystinuria Active, not recruiting NCT02125721
14 TCUPS- Tolvaptan Use in Cyctinuria and Urolithiasis: A Pilot Study Not yet recruiting NCT02538016

Search NIH Clinical Center for Aminoaciduria

Genetic Tests for Aminoaciduria

Genetic tests related to Aminoaciduria:

id Genetic test Affiliating Genes
1 Aminoaciduria 29

Anatomical Context for Aminoaciduria

MalaCards organs/tissues related to Aminoaciduria:

39
Liver, Testes, Kidney, Lung, Skin, Eye, Thyroid

Publications for Aminoaciduria

Articles related to Aminoaciduria:

(show top 50) (show all 196)
id Title Authors Year
1
Aminoaciduria in the prediction of ifosfamide-induced tubulopathy after childhood cancer: a feasibility study. ( 27965825 )
2016
2
Neutral aminoaciduria in cystathionine I^-synthase-deficient mice; an animal model of homocystinuria. ( 24761004 )
2014
3
Imatinib mesylate induces massive and nonspecific aminoaciduria in CML patients. ( 22287505 )
2012
4
Loss-of-function mutations in the glutamate transporter SLC1A1 cause human dicarboxylic aminoaciduria. ( 21123949 )
2011
5
Aminoaciduria, but normal thyroid hormone levels and signalling, in mice lacking the amino acid and thyroid hormone transporter Slc7a8. ( 21726201 )
2011
6
Mixed proximal and distal renal tubular acidosis without aminoaciduria in a mare. ( 17939575 )
2007
7
Aminoaciduria and altered renal expression of luminal amino acid transporters in mice lacking novel gene collectrin. ( 16985211 )
2007
8
A case of Marfans syndrome with aminoaciduria. ( 17700001 )
2007
9
The molecular basis of neutral aminoacidurias. ( 16052352 )
2006
10
Peeling skin syndrome with aminoaciduria. ( 16060866 )
2005
11
A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria. ( 15610225 )
2005
12
Antenatal diagnosis of hereditary fetal growth retardation with aminoaciduria, cholestasis, iron overload, and lactic acidosis in the newborn infant. ( 12027811 )
2002
13
ABCB6 (MTABC3) excluded as the causative gene for the growth retardation syndrome with aminoaciduria, cholestasis, iron overload, and lactacidosis. ( 11977179 )
2002
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
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
17
Heteromeric amino acid transporters explain inherited aminoacidurias. ( 10990376 )
2000
18
The family of heteromultimeric amino acid transporters reveals aminoaciduria genes. ( 11143989 )
2000
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
Aminoaciduria resulting from vigabatrin administration in children with epilepsy. ( 10428431 )
1999
21
Aminoaciduria in calcium-deficiency rickets in northern Nigeria. ( 10584465 )
1999
22
Iron-overload disease in infants involving fetal growth retardation, lactic acidosis, liver haemosiderosis, and aminoaciduria. ( 9482441 )
1998
23
Aminoaciduria and glycosuria following severe childhood lead poisoning. ( 9630041 )
1998
24
Glutamate transporter EAAC-1-deficient mice develop dicarboxylic aminoaciduria and behavioral abnormalities but no neurodegeneration. ( 9233792 )
1997
25
Phosphaturia, glycosuria and aminoaciduria associated with idiopathic acquired sideroblastic anemia. ( 8719550 )
1995
26
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
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
Iminoglycinuria: a benign type of inherited aminoaciduria. ( 7504361 )
1993
30
The relationship between aminoaciduria and plasma hemoglobin levels. ( 8130761 )
1993
31
Transient glycosuria and aminoaciduria in successful transplantation of infant kidneys to adults. ( 1681256 )
1991
32
Aminoaciduria as a marker of acute renal transplant rejection--a patient study. ( 1905600 )
1991
33
D-Aminoaciduria in mutant mice lackingD-amino-acid oxidase activity. ( 24194108 )
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
Aminoaciduria due to vinyl-GABA administration. ( 2215628 )
1990
36
Aminoaciduria of phosphate depletion manifests at the renal brush border membrane. ( 2277606 )
1990
37
Persistent nephrogenic diabetes insipidus, tubular proteinuria, aminoaciduria, and parathyroid hormone resistance following longterm lithium administration. ( 2170960 )
1990
38
Aminoaciduria of severe trauma. ( 2718916 )
1989
39
Dicarboxylic aminoaciduria associated with mental retardation. ( 2567279 )
1989
40
Aminoaciduria of vitamin D deficiency is independent of PTH levels and urinary cyclic AMP. ( 2548072 )
1989
41
Lack of D-amino-acid oxidase activity causes a specific renal aminoaciduria in the mouse. ( 2904279 )
1988
42
Asperger's syndrome and aminoaciduria: a case example. ( 3664113 )
1987
43
Transient proteinuria and aminoaciduria in rodents following uranium intoxication. ( 3978278 )
1985
44
Omega-aminoaciduria induced by gamma-vinyl GABA. ( 6142173 )
1984
45
Aminoaciduria with serum and urinary copper in renal diseases. ( 6674185 )
1983
46
An unusual case of Morquio's syndrome with aminoaciduria. ( 6418710 )
1983
47
Aminoaciduria in handicapped children: a study using ion-exchange chromatography as a screening test. ( 6165874 )
1981
48
Dipropylacetate and aminoaciduria. ( 6766992 )
1980
49
Aminoaciduria--its relationship to vitamin D and parathyroid hormone. ( 6998653 )
1980
50
Combined iminoglycinuria and cystine- and dibasic aminoaciduria in patients with propionic acidaemia and 3-methylcrotonylglycinuria. ( 6775144 )
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:

id 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:

id 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 MARS MPST OCRL SLC1A1
3 brush border membrane GO:0031526 9.02 SLC34A1 SLC3A1 SLC6A19 SLC7A9 TMEM27

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

id 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 amino acid transport GO:0006865 9.13 SLC3A1 SLC6A19 SLC7A9
7 L-cystine transport GO:0015811 8.62 SLC3A1 SLC7A9

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

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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