Aliases & Classifications for Aminoaciduria

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Sources:
45NIH Rare Diseases, 47Novoseek, 65UMLS
See all sources

Aliases & Descriptions for Aminoaciduria:

Name: Aminoaciduria 45 47 65


Classifications:



Summaries for Aminoaciduria

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Wikipedia:68 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 dicarboxylic aminoaciduria and gracile syndrome. An important gene associated with Aminoaciduria is SLC6A19 (Solute Carrier Family 6 (Neutral Amino Acid Transporter), Member 19), and among its related pathways are Dichloroethylene metabolism and Hepatic ABC Transporters. Affiliated tissues include liver, testes and kidney, and related mouse phenotypes are adipose tissue and liver/biliary system.

Related Diseases for Aminoaciduria

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

(show top 50)    (show all 155)
idRelated DiseaseScoreTop Affiliating Genes
1dicarboxylic aminoaciduria10.6
2gracile syndrome10.4
3lysinuric protein intolerance10.3
4rickets10.3
5muscular dystrophy10.3
6phenylketonuria10.3
7fanconi syndrome10.3
8dibasic aminoaciduria 210.3
9inborn renal aminoaciduria10.3
10mental retardation, x-linked syndromic, raymond type10.2CLCN5, OCRL
11hartnup disorder10.2
12nephrotic syndrome10.2
13progressive muscular dystrophy10.2
14ataxia10.2
15isolated agammaglobulinemia10.2EHHADH, SLC34A1
16galactose epimerase deficiency10.1
17cystinuria10.1
18hyperparathyroidism, neonatal10.1
19cerebellar ataxia10.1
20argininosuccinic aciduria10.1
21lowe syndrome10.1
22cystinosis10.1
23kwashiorkor10.1
24lactic acidosis10.1
25dwarfism10.1
26dibasic aminoaciduria 110.1
27hyperdibasic aminoaciduria type 110.1
28fragile x syndrome10.1CLCN5, OCRL
29monomelic amyotrophy10.1HNF1A, HNF4A
30maple syrup urine disease, type ii10.1
31orotic aciduria10.1
32alkaptonuria10.1
33propionicacidemia10.1
34fanconi renotubular syndrome 310.1
35netherton syndrome10.1
36fanconi renotubular syndrome 210.1
37sialidosis, type i10.1
38argininemia10.1
39dihydrolipoamide dehydrogenase deficiency10.1
40mitochondrial dna depletion syndrome 510.1
41isovaleric acidemia10.1
42tyrosinemia, type i10.1
43renal glucosuria10.1
44tyrosinemia, type ii10.1
45carnosinemia10.1
46fanconi renotubular syndrome 4, with maturity-onset diabetes of the young10.1
47hyperprolinemia, type i10.1
48ornithine transcarbamylase deficiency10.1
49dent disease10.1
50dent disease 210.1

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Penicillamineapproved652-67-55852, 4727
Synonyms:
(+-)-Penicillamine
(-)-Penicillamine
(2S)-2-Amino-3-methyl-3-sulfanylbutanoic acid
(2S)-2-amino-3-methyl-3-sulfanyl-butanoic acid
(D)-PENICILLAMINE
(S)-3,3-Dimethylcysteine
(S)-Penicillamin
(S)-Penicillamine
16414-54-3
2-Amino-3-mercapto-3-methylbutanoic acid
2-amino-3-Mercapto-3-methylbutyric acid
3,3-Dimethyl-D-cysteine
3,3-Dimethylcysteine
3-Mercapto-D-valine
3-Mercaptovaline
3-sulfanyl-D-valine
52-67-5
76400_FLUKA
AC1L1L9Z
AC1Q1NP9
AC1Q1NPA
Artamine
BSPBio_002181
Bio-0578
C07418
CCRIS 2904
CHEBI:7959
CHEMBL1430
CID5852
CPD-7702
Copper penicillaminate
Cuprenil
Cuprimine
Cuprimine (TN)
Cupripen
D 3 Mercaptovaline
D Penicillamine
D,L-Penicillamine
D-(-)-2-Amino-3-mercapto-3-methylbutanoic acid
D-(-)-Penicillamine
D-3-Mercaptovaline
D-Mercaptovaline
D-Penamine
D-Penicilamine
D-Penicillamine
D-Penicyllamine
D-beta,beta-Dimethylcysteine
D-beta-Mercaptovaline
D00496
D010396
DB00859
DL-3-Mercaptovaline
DL-beta-Mercaptovaline
Depamine
Depen
Depen (TN)
Dimethylcysteine
Distamine (*Hydrochloride*)
DivK1c_000314
EINECS 200-148-8
Emtexate
HSDB 3378
 
IDI1_000314
InChI=1/C5H11NO2S/c1-5(2,9)3(6)4(7)8/h3,9H,6H2,1-2H3,(H,7,8
KBio1_000314
KBio2_000763
KBio2_003331
KBio2_005899
KBio3_001681
KBioGR_000920
KBioSS_000763
Kuprenil
L-Penicillamine
LS-161321
Mercaptovaline
Mercaptyl
Metalcaptase
Metalcaptase (*Hydrochloride*)
MolPort-001-792-382
NCGC00018283-01
NCGC00024359-04
NCGC00024359-05
NINDS_000314
NSC 81549
NSC81549
P-1280
P0147
P4875_SIGMA
Pendramine
Penicilamina
Penicilamina [INN-Spanish]
Penicillamin
Penicillamina
Penicillamina [DCIT]
Penicillaminate, Copper
Penicillamine (JAN/USP/INN)
Penicillamine [USAN:INN:BAN:JAN]
Penicillaminum
Penicillaminum [INN-Latin]
Penicilllamine
Perdolat
Pénicillamine
Reduced D-penicillamine
Reduced penicillamine
S1853_Selleck
SMP1_000042
SPBio_001217
Spectrum2_001029
Spectrum3_000541
Spectrum4_000470
Spectrum5_001196
Spectrum_000283
Sufirtan
Sufortan
TBB068824
Trolovol
UNII-GNN1DV99GX
alpha-Amino-beta-methyl-beta-mercaptobutyric acid
beta,beta Dimethylcysteine
beta,beta-Dimethylcysteine
beta-Mercaptovaline
beta-Thiovaline
d,3-Mercaptovaline
penicillamine
β-Mercaptovaline
2Arginine Vasopressin163
3Vasopressins159
4NoniNutraceutical8

Interventional clinical trials:

idNameStatusNCT IDPhase
1Use of an Herbal Preparation to Prevent and Dissolve Kidney StonesCompletedNCT00381849Phase 1, Phase 2
2Sulfamethoxazole for the Treatment of Primary PREPL DeficiencyEnrolling by invitationNCT02640443Phase 2
3Cystine Capacity Clinical Study (CysCap)RecruitingNCT02120105
4Effect of Increasing Doses of Cystine Binding Thiol Drugs on Cystine Capacity in Patients With CystinuriaRecruitingNCT02125721
5Health-related Quality of Life in Rare Kidney StoneRecruitingNCT02124395
6Rare Kidney Stone Consortium BiobankRecruitingNCT02026388
7Rare Kidney Stone Consortium Patient RegistryRecruitingNCT00588562
8Randall's Plaque Study: Pathogenesis and Relationship to NephrolithiasisRecruitingNCT00169806
9TCUPS- Tolvaptan Use in Cyctinuria and Urolithiasis: A Pilot StudyNot yet recruitingNCT02538016
10PREPL in Health and DiseaseNot yet recruitingNCT02263781

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:

33
Liver, Testes, Kidney, Skin, Thyroid, Lung, Eye

Animal Models for Aminoaciduria or affiliated genes

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MGI Mouse Phenotypes related to Aminoaciduria:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.0HNF1A, SLC3A1, SLC5A2, SLC6A19, TMEM27
2MP:00053708.6B2M, BCS1L, CLCN5, EHHADH, HNF1A, HNF4A
3MP:00053677.2BCS1L, CLCN5, HNF1A, OCRL, SLC1A1, SLC34A1
4MP:00053847.1ABCB6, B2M, BCS1L, CLCN5, EHHADH, HNF1A
5MP:00053786.4B2M, BCS1L, EHHADH, HNF1A, HNF4A, OCRL
6MP:00053765.3ABCB6, B2M, BCS1L, CLCN5, EHHADH, HNF1A

Publications for Aminoaciduria

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Articles related to Aminoaciduria:

(show top 50)    (show all 194)
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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Search GEO for disease gene expression data for Aminoaciduria.

Pathways for genes affiliated with Aminoaciduria

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GO Terms for genes affiliated with Aminoaciduria

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Cellular components related to Aminoaciduria according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1brush border membraneGO:00315268.7SLC34A1, SLC3A1, SLC5A2, SLC6A19, SLC7A9, TMEM27
2extracellular exosomeGO:00700626.6ABCB6, B2M, MARS, MPST, OCRL, SLC1A1

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1neutral amino acid transportGO:001580410.5SLC6A19, SLC7A9
2amino acid transmembrane transportGO:000333310.3SLC3A1, SLC6A19, SLC7A9
3amino acid transportGO:000686510.3SLC3A1, SLC6A19, SLC7A9
4L-cystine transportGO:001581110.1SLC3A1, SLC7A9
5response to cadmium ionGO:00466869.6B2M, SLC34A1
6ion transportGO:00068119.3SLC1A1, SLC34A1, SLC3A1, SLC6A19, SLC7A9
7transmembrane transportGO:00550858.0ABCB6, CLCN5, SLC1A1, SLC34A1, SLC3A1, SLC5A2

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

idNameGO IDScoreTop Affiliating Genes
1neutral amino acid transmembrane transporter activityGO:001517510.1SLC6A19, SLC7A9
2amino acid transmembrane transporter activityGO:001517110.1SLC3A1, SLC7A9
3L-cystine transmembrane transporter activityGO:001518410.0SLC3A1, SLC7A9
4antiporter activityGO:00152979.7CLCN5, SLC7A9

Sources for Aminoaciduria

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet