GOUT1
MCID: URC014
MIFTS: 15

Uric Acid Concentration, Serum, Quantitative Trait Locus 1 (GOUT1)

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 57 29 6 40
Uric Acid Concentration, Serum, Qtl1 57
Gout Susceptibility 1; Gout1 57
Gout Susceptibility 1 57
Uaqtl1 57
Gout1 57

Characteristics:

OMIM:

57
Inheritance:
? autosomal dominant form


Classifications:



External Ids:

OMIM 57 138900
MedGen 42 C1841837

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

OMIM : 57 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 skin and kidney, 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

Symptoms via clinical synopsis from OMIM:

57
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

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

32
# Description HPO Frequency HPO Source Accession
1 arthritis 32 HP:0001369
2 hyperuricemia 32 HP:0002149
3 abnormality of the skin 32 HP:0000951

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:

41
Skin, Kidney

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

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 Variation Type Significance SNP ID Assembly Location
1 ABCG2 NM_004827.2(ABCG2): c.376C> T (p.Gln126Ter) single nucleotide variant association rs72552713 GRCh37 Chromosome 4, 89052957: 89052957
2 ABCG2 NM_004827.2(ABCG2): c.376C> T (p.Gln126Ter) single nucleotide variant association rs72552713 GRCh38 Chromosome 4, 88131805: 88131805
3 ABCG2 NM_004827.2(ABCG2): c.34G> A (p.Val12Met) single nucleotide variant Affects, association rs2231137 GRCh37 Chromosome 4, 89061114: 89061114
4 ABCG2 NM_004827.2(ABCG2): c.34G> A (p.Val12Met) single nucleotide variant Affects, association rs2231137 GRCh38 Chromosome 4, 88139962: 88139962
5 ABCG2 NM_004827.2(ABCG2): c.421C> A (p.Gln141Lys) single nucleotide variant drug response rs2231142 GRCh37 Chromosome 4, 89052323: 89052323
6 ABCG2 NM_004827.2(ABCG2): c.421C> A (p.Gln141Lys) single nucleotide variant drug response rs2231142 GRCh38 Chromosome 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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