MCID: AMN006
MIFTS: 44

Aminoaciduria malady

Rare diseases category
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Summaries for Aminoaciduria

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Wikipedia:65 Aminoaciduria is the presence of amino acids in the urine. Small amounts of amino acids are also present... more...

MalaCards based summary: Aminoaciduria is related to cystinuria and fanconi syndrome. An important gene associated with Aminoaciduria is SLC5A2 (solute carrier family 5 (sodium/glucose cotransporter), member 2), and among its related pathways are Cell surface interactions at the vascular wall and Basigin interactions. The compounds chlorine and cystine have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and testes, and related mouse phenotypes are adipose tissue and cellular.

Aliases & Classifications for Aminoaciduria

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Sources:
42NIH Rare Diseases, 44Novoseek, 62UMLS
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Aminoaciduria, Aliases & Descriptions:

Name: Aminoaciduria 42 44 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


Related Diseases for Aminoaciduria

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

(show top 50)    (show all 114)
idRelated DiseaseScoreTop Affiliating Genes
1cystinuria30.6SLC7A9, SLC3A1
2fanconi syndrome30.6CLCN5
3iminoglycinuria30.3SLC36A1
4lysinuric protein intolerance30.3SLC7A7, SLC3A2, SLC3A1
5hartnup disease29.8TMEM27, SLC6A20, SLC36A1, SLC6A19
6dicarboxylic aminoaciduria10.6
7mental retardation10.4
8gracile syndrome10.3
9rickets10.3
10muscular dystrophy10.2
11hypophosphatemia10.2CLCN5, B2M
12acute kidney tubular necrosis10.2SLC5A2, CLCN5, B2M
13nephrotic syndrome10.2
14dibasic aminoaciduria 210.2
15inborn renal aminoaciduria10.2
16ataxia10.2
17iminoglycinuria, digenic10.2SLC6A19, SLC6A20
18nephrolithiasis10.2SLC7A9, SLC3A1, CLCN5
19hyperglycinuria10.1SLC6A20, SLC6A19
20cerebellar ataxia10.1
21phenylketonuria10.1
22kwashiorkor10.1
23lactic acidosis10.1
24proteinuria10.1
25dwarfism10.1
26hyperdibasic aminoaciduria type 110.1
27cataract10.0
28hepatitis10.0
29renal tubular acidosis10.0
30oculocerebrorenal syndrome10.0
31cholestasis10.0
32pancreatitis10.0
33dibasic aminoaciduria 110.0
34hereditary pancreatitis10.0
35hyperprolinemia10.0
36lead poisoning10.0
37cor pulmonale10.0
38burkitt's lymphoma9.9
39glomerulonephritis9.9
40multiple myeloma9.9
41ornithine carbamoyltransferase deficiency9.9
42osteoporosis9.9
43renal glycosuria9.9
44tyrosinemia type i9.9
45keratosis follicularis9.9
46cryoglobulinemia9.9
47chronic mucocutaneous candidiasis9.9
48propionic acidemia9.9
49argininosuccinic aciduria9.9
50isovaleric acidemia9.9

Graphical network of the top 20 diseases related to Aminoaciduria:



Diseases related to aminoaciduria

Symptoms for Aminoaciduria

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Drugs & Therapeutics for Aminoaciduria

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Drug clinical trials:

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Search NIH Clinical Center for Aminoaciduria

Genetic Tests for Aminoaciduria

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Anatomical Context for Aminoaciduria

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MalaCards organs/tissues related to Aminoaciduria:

32
Liver, Kidney, Testes, Eye, Bone, Lung, Thyroid, Skin

Animal Models for Aminoaciduria or affiliated genes

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MGI Mouse Phenotypes related to Aminoaciduria:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.7TMEM27, HNF1A, SLC6A19, SLC3A1, SLC5A2
2MP:00053847.8B2M, TMEM27, CLCN5, BCS1L, HNF1A, SLC1A1
3MP:00053677.7SLC7A9, TMEM27, CLCN5, BCS1L, HNF1A, SLC1A1
4MP:00053787.4B2M, TMEM27, BCS1L, HNF1A, SLC6A19, SLC7A7
5MP:00053766.4BCS1L, CLCN5, TMEM27, B2M, ABCB6, HNF1A

Publications for Aminoaciduria

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Articles related to Aminoaciduria:

(show top 50)    (show all 192)
idTitleAuthorsYear
1
Imatinib mesylate induces massive and nonspecific aminoaciduria in CML patients. (22287505)
2012
2
Aminoaciduria and altered renal expression of luminal amino acid transporters in mice lacking novel gene collectrin. (16985211)
2007
3
A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria. (15610225)
2005
4
Glutamate transporter EAAC-1-deficient mice develop dicarboxylic aminoaciduria and behavioral abnormalities but no neurodegeneration. (9233792)
1997
5
Aminoaciduria as a marker of acute renal transplant rejection--a patient study. (1905600)
1991
6
Aminoaciduria due to vinyl-GABA administration. (2215628)
1990
7
Aminoaciduria of severe trauma. (2718916)
1989
8
An unusual case of Morquio's syndrome with aminoaciduria. (6418710)
1983
9
Dipropylacetate and aminoaciduria. (6766992)
1980
10
Effect of calciotropic hormones and cyclic nucleotides on aminoaciduria and phosphaturia. (6247689)
1980
11
Maleic acid induced aminoaciduria, studied by free flow micropuncture and continuous microperfusion. (574260)
1979
12
Dicarboxylic aminoaciduria: an inborn error of amino acid conservation. (894411)
1977
13
A study of aminoacidemia and aminoaciduria in epileptic children. (1024264)
1976
14
D-serine nephrotoxicity. The nature of proteinuria, glucosuria, and aminoaciduria in acute tubular necrosis. (1203037)
1975
15
Aminoaciduria and proteinuria in rats after a single intraperitoneal injection of Ni(II). (1209637)
1975
16
Effect of vitamin D deficiency on aminoaciduria and intestinal transport of amino acids in the rat. (4425997)
1974
17
A case of renal tubular acidosis with secondary hyperparathyroidism, lipemia and aminoaciduria with review of Japanese literature. (4459115)
1974
18
Bogus branched-chain aminoaciduria. (4701801)
1973
19
Aminoaciduria in Japanese workers in the lead and cadmium industries. (5025608)
1972
20
Aminoaciduria. (5436525)
1970
21
Iatrogenic aminoaciduria. (4098696)
1970
22
Aminoaciduria in a homocystinuric family. (5358562)
1969
23
Aminoaciduria in pernicious anaemia. (5365352)
1969
24
Hereditary granular corneal dystrophy and associated aminoaciduria. (4924455)
1969
25
Aminoaciduria in xeroderma pigmentosum. (4185294)
1968
26
Aminoaciduria-renal transport. (4865975)
1968
27
Significance of aminoaciduria in Indian childhood cirrhosis. (5594808)
1967
28
Bilateral renal calculi and aminoaciduria after excessive intake of Worcestershire sauce. (4166338)
1967
29
Aminoaciduria. (5327155)
1966
30
The abnormal aminoaciduria in petit mal epilepsy. Further observations in 40 patients and 38 healthy controls. (4957014)
1966
31
Chromatographic studies of aminoaciduria in rickets. (5920143)
1966
32
A STUDY OF CARBON TETRACHLORIDE. VI. AMINOACIDURIA IN RESPONSE TO CARBON TETRACHLORIDE INHALATION. (14105902)
1964
33
AMINOACIDURIA AFTER DIETARY LOADING IN HUMAN SUBJECTS. (14127946)
1964
34
Aminoaciduria produced by hydrocortisone in normals and in members of a family with adult Fanconi syndrome. (13992202)
1963
35
Aminoaciduria as a manifestation of renal tubular injury in lead intoxication and a comparison with patterns of aminoaciduria seen in other diseases. (13879030)
1962
36
Familial aminoaciduria in osteogenesis imperfecta. (13879232)
1962
37
Excretion of D- and L-methionine in children with generalized aminoaciduria. (14486427)
1961
38
A rapid spot test for the determination of cystinuria and aminoaciduria. (13893181)
1961
39
Aminoaciduria in various types of rickets. A study by the high voltage electrophoretic technique. (13781573)
1960
40
Transient aminoaciduria in severe potassium depletion. (13814350)
1960
41
Significance of lactose in the diet in aminoaciduria caused by maleic acid. (13793701)
1959
42
Critical evaluation of methods used in aminoaciduria investigation. (14428916)
1959
43
Cryoglobulinemia, macroglobulinemia, and the aminoaciduria which is sometimes associated with multiple myeloma. (13307228)
1956
44
Abnormalities of copper metabolism in Wilson's disease and their relationship to the aminoaciduria. (13143088)
1954
45
Aminoaciduria in galactosaemia. (13180338)
1954
46
Chromatographic studies of aminoaciduria in childhood. (13161939)
1954
47
Experimental production of renal glycosuria, phosphaturia, and aminoaciduria by injection of maleic acid. (13205194)
1954
48
Cystine storage disease with aminoaciduria and dwarfism; Lignac-Fanconi disease. (13113939)
1953
49
A new method for qualitative and quantitative study of aminoaciduria by paper chromatography. (13033888)
1952
50
Aminoaciduria in progressive muscular dystrophy. (18863698)
1948

Variations for Aminoaciduria

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Expression for genes affiliated with Aminoaciduria

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Expression patterns in normal tissues for genes affiliated with Aminoaciduria

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Pathways for genes affiliated with Aminoaciduria

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Pathways related to Aminoaciduria according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3SLC7A9, SLC3A2, SLC7A7
29.3SLC7A9, SLC3A2, SLC7A7
37.8SLC1A1, SLC36A1, SLC6A19, SLC7A7, SLC3A2, SLC3A1
4
Show member pathways
6.0SLC7A9, ABCB6, CLCN5, SLC1A1, SLC6A20, SLC36A1

Compounds for genes affiliated with Aminoaciduria

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Compounds related to Aminoaciduria according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1chlorine44 2410.9B2M, CLCN5, SLC6A19
2cystine449.8SLC7A9, SLC3A1, SLC3A2
3chloride449.7SLC1A1, CLCN5, B2M
4L-Cystine24 1110.7SLC1A4, SLC3A1, SLC7A9
5creatinine449.6SLC3A1, HNF1A, CLCN5, B2M
6l-arginine28 24 1111.4SLC7A7, SLC3A2
7glutamine449.3SLC1A4, SLC1A1, HNF1A, B2M
8phenylalanine449.1SLC3A1, SLC3A2, SLC1A4, HNF1A
9l-tryptophan50 28 44 24 1113.1B2M, SLC36A1
10l-alanine61 28 24 1112.0SLC1A4, SLC36A1
11leucine448.9HNF1A, SLC1A4, SLC3A2, SLC3A1
12glutamate448.8SLC3A1, SLC3A2, SLC1A4, SLC6A19, SLC1A1
13gaba448.8SLC1A1, SLC36A1, SLC1A4, SLC3A1
14cysteine448.3B2M, MPST, SLC1A1, SLC36A1, SLC3A2, SLC3A1
15alanine448.0B2M, SLC1A1, SLC36A1, SLC1A4, SLC3A2, SLC3A1
16serine447.9B2M, SLC1A1, SLC36A1, SLC1A4, SLC3A2, SLC3A1
17sodium44 248.4SLC7A9, B2M, SLC1A1, SLC6A20, SLC6A19, SLC1A4

GO Terms for genes affiliated with Aminoaciduria

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Cellular components related to Aminoaciduria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1brush border membraneGO:03152610.0SLC7A9, SLC3A1
2vacuolar membraneGO:0057749.6SLC3A1, ABCB6
3integral component of plasma membraneGO:0058877.8CLCN5, SLC1A1, SLC6A20, SLC6A19, SLC1A4, SLC7A7
4extracellular vesicular exosomeGO:0700627.0SLC5A2, ABCB6, B2M, MPST, TMEM27, SLC1A1
5plasma membraneGO:0058866.0SLC36A1, SLC6A20, SLC1A1, B2M, ABCB6, SLC6A19

Biological processes related to Aminoaciduria according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1chloride transmembrane transportGO:19024769.6SLC1A4, CLCN5
2cellular amino acid metabolic processGO:0065209.6SLC7A7, SLC3A1, SLC7A9
3L-cystine transportGO:0158119.5SLC1A4, SLC3A1, SLC7A9
4proline transportGO:0158249.4SLC1A4, SLC6A20
5transportGO:0068109.1SLC7A9, SLC5A2, SLC7A7, CLCN5, ABCB6
6leukocyte migrationGO:0509009.0SLC7A9, SLC3A2, SLC7A7
7amino acid transportGO:0068657.2SLC6A20, SLC7A9, SLC3A1, SLC3A2, SLC7A7, SLC1A4
8ion transportGO:0068117.0SLC1A4, SLC6A19, SLC36A1, SLC6A20, SLC1A1, SLC7A7
9transmembrane transportGO:0550856.1SLC7A9, SLC5A2, SLC3A1, SLC3A2, SLC7A7, SLC1A4

Molecular functions related to Aminoaciduria according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1cation bindingGO:0431699.8SLC3A2, SLC3A1
2neutral amino acid transmembrane transporter activityGO:0151759.7SLC7A9, SLC3A2, SLC6A19
3chloride channel activityGO:0052549.6SLC1A4, CLCN5
4neurotransmitter:sodium symporter activityGO:0053289.6SLC6A19, SLC6A20
5L-cystine transmembrane transporter activityGO:0151849.5SLC1A4, SLC3A1, SLC7A9
6sodium:dicarboxylate symporter activityGO:0171539.5SLC1A1, SLC1A4
7amino acid transmembrane transporter activityGO:0151719.4SLC7A9, SLC3A1, SLC7A7, SLC6A20
8L-proline transmembrane transporter activityGO:0151939.1SLC36A1, SLC1A4
9L-alanine transmembrane transporter activityGO:0151809.0SLC1A4, SLC36A1

Products for genes affiliated with Aminoaciduria

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet