MCID: AMN006
MIFTS: 29

Aminoaciduria malady

Summaries for Aminoaciduria

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63Wikipedia, 32MalaCards
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Wikipedia:63 Aminoaciduria is the presence of amino acids in the urine. Small amounts of amino acids are also present... more...

MalaCards: Aminoaciduria is related to rickets and lysinuric protein intolerance. An important gene associated with Aminoaciduria is SLC5A2 (solute carrier family 5 (sodium/glucose cotransporter), member 2), and among its related pathways are Basigin interactions and Cell surface interactions at the vascular wall. The compounds cystine and chlorine have been mentioned in the context of this disorder. Affiliated tissues include liver, and related mouse phenotypes are adipose tissue and renal/urinary system.

Aliases & Classifications for Aminoaciduria

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42NIH Rare Diseases, 44Novoseek, 60UMLS
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Aliases & Descriptions:

aminoaciduria 42 44 60


Related Diseases for Aminoaciduria

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17GeneCards, 18GeneDecks
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Diseases related to Aminoaciduria via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 117)
idRelated DiseaseScoreTop Affiliating Genes
1rickets30.3CLCN5
2lysinuric protein intolerance30.2SLC3A2, SLC7A7, SLC3A1
3fanconi syndrome30.2CLCN5, OCRL
4cystinuria30.1SLC3A1, SLC7A9
5renal tubular acidosis30.1OCRL, B2M
6hartnup disease30.1SLC6A19, SLC6A20, SLC36A1, TMEM27
7oculocerebrorenal syndrome29.9OCRL, CLCN5
8dicarboxylic aminoaciduria10.4
9gracile syndrome10.3
10muscular dystrophy10.2
11nephrotic syndrome10.1
12proteinuria10.1
13dibasic aminoaciduria 210.1
14kwashiorkor10.1
15phenylketonuria10.1
16cerebellar ataxia10.1
17lactic acidosis10.1
18dwarfism10.1
19inborn renal aminoaciduria10.1
20hyperdibasic aminoaciduria type 110.1
21renal glycosuria10.0
22cataract10.0
23cholestasis10.0
24hepatitis10.0
25kidney disease10.0
26pancreatitis10.0
27dibasic aminoaciduria 110.0
28pyelonephritis10.0B2M
29iminoglycinuria, digenic10.0SLC6A19, SLC6A20
30pellagra10.0SLC6A19
31hyperglycinuria10.0SLC6A20, SLC6A19
32iminoglycinuria10.0SLC36A1
33fallopian tube cancer10.0B2M, SLC5A2, CLCN5
34dent's disease10.0CLCN5, OCRL
35hypophosphatemia10.0CLCN5, SLC34A1, B2M
36x-linked hypophosphatemia10.0CLCN5, SLC34A1
37nephrolithiasis10.0SLC7A9, SLC3A1, CLCN5, SLC34A1
38nephrocalcinosis10.0OCRL, CLCN5, SLC34A1
39angina pectoris9.8
40marfan syndrome9.8
41lipoid nephrosis9.8
42cryoglobulinemia9.8
43keratosis follicularis9.8
44argininosuccinic aciduria9.8
45isovaleric acidemia9.8
46netherton syndrome9.8
47syndactyly9.8
48xeroderma pigmentosum9.8
49macroglobulinemia9.8
50polydactyly9.8

Graphical network of the top 20 diseases related to Aminoaciduria:



Diseases related to aminoaciduria

Clinical Features for Aminoaciduria

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Drugs & Therapeutics for Aminoaciduria

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Aminoaciduria

Drug clinical trials:

Search ClinicalTrials for Aminoaciduria

Search NIH Clinical Center for Aminoaciduria

Search CenterWatch for Aminoaciduria

Genetic Tests for Aminoaciduria

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Anatomical Context for Aminoaciduria

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32MalaCards
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MalaCards organs/tissues related to Aminoaciduria:

32
Liver

Animal Models for Aminoaciduria or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Aminoaciduria:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.1SLC6A19, SLC3A1, SLC5A2, TMEM27, HNF1A
2MP:00053677.1OCRL, BCS1L, TMEM27, SLC5A2, SLC7A7, SLC3A1
3MP:00053786.7SLC3A1, BCS1L, TMEM27, SLC5A2, SLC7A7, SLC3A2
4MP:00053766.0ABCB6, CLCN5, OCRL, B2M, HNF1A, SLC3A1

Publications for Aminoaciduria

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Genetic Variations for Aminoaciduria

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Expression for genes affiliated with Aminoaciduria

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Aminoaciduria

Search GEO for disease gene expression data for Aminoaciduria.

Pathways for genes affiliated with Aminoaciduria

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53Reactome, 29KEGG
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Compounds for genes affiliated with Aminoaciduria

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44Novoseek, 24HMDB, 11DrugBank, 28IUPHAR, 59Tocris Bioscience
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Compounds related to Aminoaciduria according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
1cystine449.7SLC7A9, SLC3A1, SLC3A2
2chlorine44 2410.7CLCN5, SLC6A19, B2M
3L-Cystine11 2410.7SLC7A9, SLC3A1, SLC1A4
4chloride449.3B2M, OCRL, CLCN5, SLC1A1, SLC34A1
5creatinine449.3B2M, OCRL, CLCN5, SLC3A1, HNF1A
6glutamine449.1SLC1A4, B2M, HNF1A, SLC1A1
7phenylalanine449.0SLC3A1, SLC3A2, HNF1A, SLC1A4
8l-alanine28 59 11 2411.7SLC1A4, SLC36A1
9gaba448.7SLC1A1, SLC1A4, SLC3A1, SLC36A1
10cysteine448.0SLC3A2, SLC3A1, SLC1A1, MPST, B2M, SLC36A1
11alanine448.0SLC36A1, SLC3A2, SLC3A1, SLC1A1, SLC1A4, B2M
12sodium44 248.3SLC6A19, B2M, SLC1A4, SLC6A20, SLC7A9, SLC1A1

GO Terms for genes affiliated with Aminoaciduria

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16Gene Ontology
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Cellular components related to Aminoaciduria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1vacuolar membraneGO:00577410.0ABCB6, SLC3A1
2integral to plasma membraneGO:0058877.5SLC6A19, SLC1A4, SLC6A20, SLC7A9, SLC1A1, SLC34A1
3plasma membraneGO:0058865.5SLC1A4, B2M, OCRL, ABCB6, SLC6A19, SLC6A20

Biological processes related to Aminoaciduria according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1amino acid transmembrane transportGO:00333310.0SLC6A20, SLC3A1
2response to cadmium ionGO:0466869.9B2M, SLC34A1
3cellular amino acid metabolic processGO:0065209.8SLC7A9, SLC3A1, SLC7A7
4L-cystine transportGO:0158119.6SLC1A4, SLC3A1, SLC7A9
5proline transportGO:0158249.5SLC6A20, SLC1A4
6transportGO:0068109.3ABCB6, SLC7A9, SLC7A7, CLCN5, SLC5A2
7leukocyte migrationGO:0509009.1SLC7A9, SLC3A2, SLC7A7
8amino acid transportGO:0068657.4SLC1A4, SLC6A19, SLC6A20, SLC7A9, SLC3A1, SLC3A2
9ion transportGO:0068116.9SLC1A4, SLC36A1, SLC7A7, SLC3A2, SLC3A1, SLC34A1
10transmembrane transportGO:0550856.2CLCN5, SLC36A1, SLC5A2, SLC7A7, ABCB6, SLC1A4

Molecular functions related to Aminoaciduria according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1neurotransmitter:sodium symporter activityGO:00532810.0SLC6A19, SLC6A20
2cation bindingGO:0431699.7SLC3A2, SLC3A1
3neutral amino acid transmembrane transporter activityGO:0151759.7SLC6A19, SLC7A9, SLC3A2
4L-cystine transmembrane transporter activityGO:0151849.6SLC1A4, SLC7A9, SLC3A1
5amino acid transmembrane transporter activityGO:0151719.6SLC7A7, SLC3A1, SLC7A9, SLC6A20
6sodium:dicarboxylate symporter activityGO:0171539.3SLC1A1, SLC1A4
7L-proline transmembrane transporter activityGO:0151939.1SLC1A4, SLC36A1
8L-alanine transmembrane transporter activityGO:0151808.9SLC1A4, SLC36A1

Products for genes affiliated with Aminoaciduria

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Aminoaciduria

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet