MCID: AMN006
MIFTS: 41

Aminoaciduria malady

Summaries for Aminoaciduria

Sources:
64Wikipedia, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
Wikipedia:64 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 skin, liver and kidney, and related mouse phenotypes are adipose tissue and renal/urinary system.

Aliases & Classifications for Aminoaciduria

Sources:
43NIH Rare Diseases, 45Novoseek, 61UMLS
See all sources

Aliases & Descriptions:

aminoaciduria 43 45 61


Related Diseases for Aminoaciduria

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 109)
idRelated DiseaseScoreTop Affiliating Genes
1rickets30.3CLCN5
2lysinuric protein intolerance30.3SLC3A2, SLC7A7, SLC3A1
3fanconi syndrome30.2CLCN5, OCRL
4cystinuria30.1SLC3A1, SLC7A9
5renal tubular acidosis30.1OCRL, B2M
6hartnup disease30.1SLC6A19, SLC6A20, SLC36A1, TMEM27
7iminoglycinuria30.0SLC36A1
8oculocerebrorenal syndrome30.0OCRL, CLCN5
9dicarboxylic aminoaciduria10.5
10gracile syndrome10.3
11mental retardation10.3
12n syndrome10.2
13dibasic aminoaciduria 210.2
14ataxia10.2
15kwashiorkor10.1
16phenylketonuria10.1
17wilson disease10.1
18dwarfism10.1
19inborn renal aminoaciduria10.1
20hyperdibasic aminoaciduria type 110.1
21renal glycosuria10.0
22char syndrome10.0
23peeling skin syndrome10.0
24dibasic aminoaciduria 110.0
25hereditary pancreatitis10.0
26hyperprolinemia10.0
27lead poisoning10.0
28cataract, congenital10.0
29pyelonephritis10.0B2M
30iminoglycinuria, digenic10.0SLC6A19, SLC6A20
31pellagra10.0SLC6A19
32hyperglycinuria10.0SLC6A20, SLC6A19
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 pectoris9.9
40marfan syndrome9.9
41lipoid nephrosis9.9
42cryoglobulinemia9.9
43keratosis follicularis9.9
44argininosuccinic aciduria9.9
45isovaleric acidemia9.9
46friedreich ataxia9.9
47netherton syndrome9.9
48syndactyly9.9
49xeroderma pigmentosum9.9
50asperger syndrome9.9

Graphical network of the top 20 diseases related to Aminoaciduria:



Diseases related to aminoaciduria

Clinical Features for Aminoaciduria

Drugs & Therapeutics for Aminoaciduria

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Anatomical Context for Aminoaciduria

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Aminoaciduria:

33
Skin, Liver, Kidney, Lung, Thyroid, Fetal liver, Fetal lung, Fetal thyroid

Animal Models for Aminoaciduria or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Aminoaciduria

Sources:
51PubMed
See all sources

Articles related to Aminoaciduria:

(show top 50)    (show all 194)
idTitleAuthorsYear
1
Aminoaciduria and altered renal expression of luminal amino acid transporters in mice lacking novel gene collectrin. (16985211)
2007
2
Pathology of lethal fetal growth retardation syndrome with aminoaciduria, iron overload, and lactic acidosis (GRACILE). (11942535)
2002
3
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
4
Aminoaciduria in calcium-deficiency rickets in northern Nigeria. (10584465)
1999
5
Glutamate transporter EAAC-1-deficient mice develop dicarboxylic aminoaciduria and behavioral abnormalities but no neurodegeneration. (9233792)
1997
6
Phosphaturia, glycosuria and aminoaciduria associated with idiopathic acquired sideroblastic anemia. (8719550)
1995
7
Iminoglycinuria: a benign type of inherited aminoaciduria. (7504361)
1993
8
The relationship between aminoaciduria and plasma hemoglobin levels. (8130761)
1993
9
Aminoaciduria as a marker of acute renal transplant rejection--a patient study. (1905600)
1991
10
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
11
Persistent nephrogenic diabetes insipidus, tubular proteinuria, aminoaciduria, and parathyroid hormone resistance following longterm lithium administration. (2170960)
1990
12
Transient proteinuria and aminoaciduria in rodents following uranium intoxication. (3978278)
1985
13
Omega-aminoaciduria induced by gamma-vinyl GABA. (6142173)
1984
14
Aminoaciduria in handicapped children: a study using ion-exchange chromatography as a screening test. (6165874)
1981
15
Combined iminoglycinuria and cystine- and dibasic aminoaciduria in patients with propionic acidaemia and 3-methylcrotonylglycinuria. (6775144)
1980
16
Aminoaciduria--its relationship to vitamin D and parathyroid hormone. (6998653)
1980
17
Maleic acid induced aminoaciduria, studied by free flow micropuncture and continuous microperfusion. (574260)
1979
18
Cerebellar ataxia, polydactyly, syndactyly and aminoaciduria. (213416)
1978
19
Cutaneous manifestations associated with aminoaciduria. Report of two cases. (624434)
1978
20
Beta-aminoaciduria in patients with Burkitt's lymphoma. (1003521)
1976
21
Arachnodactyly, aminoaciduria, congenital cataracts, cerebellar ataxia, and delayed developmental milestones. (4448994)
1974
22
A recessive disorder with growth and mental retardation, peculiar facies, abnormal pigmentation, hepatic cirrhosis and aminoaciduria. (4471978)
1974
23
Aminoaciduria. (5436525)
1970
24
Iatrogenic aminoaciduria. (4098696)
1970
25
Hereditary granular corneal dystrophy and associated aminoaciduria. (4924455)
1969
26
Characteristics of the aminoaciduria resulting from cycloleucine administration in pair-fed rats. (5773680)
1969
27
Mental retardation, abnormal hair and mild aminoaciduria, all of unknown aetiology, in siblings. (5811937)
1969
28
Congenital ophthalmoplegia, floppy baby syndrome, myopathy, and aminoaciduria. Report of a family. (5364721)
1969
29
Parathyroid-dependent phosphaturia and aminoaciduria in the vitamin D-deficient rat. (5639562)
1968
30
Significance of aminoaciduria in Indian childhood cirrhosis. (5594808)
1967
31
Bilateral renal calculi and aminoaciduria after excessive intake of Worcestershire sauce. (4166338)
1967
32
The parathyroid hormone and aminoaciduria in vitamin-D deficiency rickets. (6050348)
1967
33
Generalized aminoaciduria in the magnesium deficient rat. (4224313)
1966
34
AMINOACIDURIA. (14281555)
1965
35
LUNG CARCINOMA, HYPOURICEMIA AND AMINOACIDURIA. (14338303)
1965
36
AMINOACIDURIA. (14281543)
1965
37
AMINOACIDURIA IN KIDNEY DISEASES. (14095796)
1963
38
Familial aminoaciduria in osteogenesis imperfecta. (13879232)
1962
39
Aminoaciduria in a case of infantile cortical hyperostosis. (14018120)
1962
40
Nephrotic syndrome with aminoaciduria, glycosuria, polydipsia, polyuria and potassium depletion. (13985100)
1962
41
Study of factors responsible for the increased aminoaciduria of kwashiorkor. (14498216)
1962
42
Excretion of D- and L-methionine in children with generalized aminoaciduria. (14486427)
1961
43
Aminoaciduria. (13786633)
1961
44
Aminoaciduria in various types of rickets. A study by the high voltage electrophoretic technique. (13781573)
1960
45
Evaluation of familial biochemically determined mental retardation in children, with special reference to aminoaciduria. (14429829)
1960
46
Cryoglobulinemia, macroglobulinemia, and the aminoaciduria which is sometimes associated with multiple myeloma. (13307228)
1956
47
Aminoaciduria following total-body irradiation in the human. (13233953)
1955
48
Chromatographic studies of aminoaciduria in childhood. (13161939)
1954
49
The diagnosis of aminoaciduria in childhood: cystine storage disease and cystine-lysinuria. (13213438)
1954
50
Renal aminoaciduria; report of two cases, with studies of amino acid excretion patterns. (14952010)
1952

Genetic Variations for Aminoaciduria

Expression for genes affiliated with Aminoaciduria

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 30KEGG
See all sources

Compounds for genes affiliated with Aminoaciduria

Sources:
45Novoseek, 24HMDB, 11DrugBank, 29IUPHAR, 60Tocris Bioscience
See all sources

Compounds related to Aminoaciduria according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
1cystine459.7SLC7A9, SLC3A1, SLC3A2
2chlorine45 2410.7CLCN5, SLC6A19, B2M
3L-Cystine11 2410.7SLC7A9, SLC3A1, SLC1A4
4chloride459.3B2M, OCRL, CLCN5, SLC1A1, SLC34A1
5creatinine459.3B2M, OCRL, CLCN5, SLC3A1, HNF1A
6glutamine459.1SLC1A4, B2M, HNF1A, SLC1A1
7phenylalanine459.0SLC3A1, SLC3A2, HNF1A, SLC1A4
8l-alanine29 60 11 2411.7SLC1A4, SLC36A1
9gaba458.7SLC1A1, SLC1A4, SLC3A1, SLC36A1
10cysteine458.0SLC3A2, SLC3A1, SLC1A1, MPST, B2M, SLC36A1
11alanine458.0SLC36A1, SLC3A2, SLC3A1, SLC1A1, SLC1A4, B2M
12sodium45 248.3SLC6A19, B2M, SLC1A4, SLC6A20, SLC7A9, SLC1A1

GO Terms for genes affiliated with Aminoaciduria

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Aminoaciduria

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet