UAQTL1
MCID: URC014
MIFTS: 19

Uric Acid Concentration, Serum, Quantitative Trait Locus 1 (UAQTL1)

Categories: Genetic diseases

Aliases & Classifications for Uric Acid Concentration, Serum, Quantitative Trait Locus 1

MalaCards integrated aliases for Uric Acid Concentration, Serum, Quantitative Trait Locus 1:

Name: Uric Acid Concentration, Serum, Quantitative Trait Locus 1 56 29 6 39
Uric Acid Concentration, Serum, Qtl1 56
Gout Susceptibility 1; Gout1 56
Gout Susceptibility 1 56
Uaqtl1 56
Gout1 56

Characteristics:

OMIM:

56
Inheritance:
? autosomal dominant form


HPO:

31
uric acid concentration, serum, quantitative trait locus 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 138900
MedGen 41 C1841837

Summaries for Uric Acid Concentration, Serum, Quantitative Trait Locus 1

OMIM : 56 Gout is a common disorder resulting from tissue deposition of monosodium urate crystals as a consequence of hyperuricemia. Patients with gout experience very painful attacks caused by precipitation of urate in joints, which triggers subsequent inflammation. Elevated serum uric acid concentration is a key risk factor for gout (summary from Matsuo et al., 2009 and Woodward et al., 2011). (138900)

MalaCards based summary : Uric Acid Concentration, Serum, Quantitative Trait Locus 1, is also known as uric acid concentration, serum, qtl1. An important gene associated with Uric Acid Concentration, Serum, Quantitative Trait Locus 1 is ABCG2 (ATP Binding Cassette Subfamily G Member 2 (Junior Blood Group)). Affiliated tissues include kidney, skin and breast, and related phenotypes are arthritis and hyperuricemia

Related Diseases for Uric Acid Concentration, Serum, Quantitative Trait Locus 1

Symptoms & Phenotypes for Uric Acid Concentration, Serum, Quantitative Trait Locus 1

Human phenotypes related to Uric Acid Concentration, Serum, Quantitative Trait Locus 1:

31
# Description HPO Frequency HPO Source Accession
1 arthritis 31 HP:0001369
2 hyperuricemia 31 HP:0002149
3 abnormality of the skin 31 HP:0000951

Symptoms via clinical synopsis from OMIM:

56
Joints:
arthritis

Skin:
urate tophi

Lab:
hyperuricemia
increased rate of uric acid synthesis
impaired net elimination of uric acid by the kidney

Clinical features from OMIM:

138900

Drugs & Therapeutics for Uric Acid Concentration, Serum, Quantitative Trait Locus 1

Search Clinical Trials , NIH Clinical Center for Uric Acid Concentration, Serum, Quantitative Trait Locus 1

Genetic Tests for Uric Acid Concentration, Serum, Quantitative Trait Locus 1

Genetic tests related to Uric Acid Concentration, Serum, Quantitative Trait Locus 1:

# Genetic test Affiliating Genes
1 Uric Acid Concentration, Serum, Quantitative Trait Locus 1 29 ABCG2

Anatomical Context for Uric Acid Concentration, Serum, Quantitative Trait Locus 1

MalaCards organs/tissues related to Uric Acid Concentration, Serum, Quantitative Trait Locus 1:

40
Kidney, Skin, Breast

Publications for Uric Acid Concentration, Serum, Quantitative Trait Locus 1

Articles related to Uric Acid Concentration, Serum, Quantitative Trait Locus 1:

(show all 15)
# Title Authors PMID Year
1
Common defects of ABCG2, a high-capacity urate exporter, cause gout: a function-based genetic analysis in a Japanese population. 56 6
20368174 2009
2
Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study. 56 6
18834626 2008
3
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. 56
23263486 2013
4
Null alleles of ABCG2 encoding the breast cancer resistance protein define the new blood group system Junior. 6
22246505 2012
5
ABCG2 null alleles define the Jr(a-) blood group phenotype. 6
22246507 2012
6
ABCG transporters and disease. 56
21554546 2011
7
Identification of a urate transporter, ABCG2, with a common functional polymorphism causing gout. 6
19506252 2009
8
Genetic variation and haplotype structure of the ABC transporter gene ABCG2 in a Japanese population. 6
16702730 2006
9
Gout-associated uric acid crystals activate the NALP3 inflammasome. 56
16407889 2006
10
Genomewide scan for gout in taiwanese aborigines reveals linkage to chromosome 4q25. 56
15252757 2004
11
Genetics of hyperuricemia in families with gout. 56
495648 1979
12
Hyperuricemia in Filipinos: interaction of heredity and environment. 56
6022241 1967
13
STUDIES ON HYPERURICEMIA. II. A RECONSIDERATION OF THE DISTRIBUTION OF SERUM URIC ACID VALUES IN THE FAMILIES OF SMYTH, COTTERMAN, AND FREYBERG. 56
14255552 1965
14
Heredity in primary gout. 56
13696706 1960
15
Heredity in gout and hyperuricemia. 56
13292148 1955

Variations for Uric Acid Concentration, Serum, Quantitative Trait Locus 1

ClinVar genetic disease variations for Uric Acid Concentration, Serum, Quantitative Trait Locus 1:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ABCG2 NM_004827.3(ABCG2):c.376C>T (p.Gln126Ter)SNV association 30385 rs72552713 4:89052957-89052957 4:88131805-88131805
2 ABCG2 NM_004827.3(ABCG2):c.34G>A (p.Val12Met)SNV Affects, association 30386 rs2231137 4:89061114-89061114 4:88139962-88139962
3 ABCG2 NM_004827.3(ABCG2):c.421C>A (p.Gln141Lys)SNV drug response 30389 rs2231142 4:89052323-89052323 4:88131171-88131171

Expression for Uric Acid Concentration, Serum, Quantitative Trait Locus 1

Search GEO for disease gene expression data for Uric Acid Concentration, Serum, Quantitative Trait Locus 1.

Pathways for Uric Acid Concentration, Serum, Quantitative Trait Locus 1

GO Terms for Uric Acid Concentration, Serum, Quantitative Trait Locus 1

Sources for Uric Acid Concentration, Serum, Quantitative Trait Locus 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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