Preferred Label : Uric acid concentration, serum, quantitative trait locus 1;
Symbol : UAQTL1;
CISMeF acronym : GOUT1; UAQTL1;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : GOUT1; Gout susceptibility 1;
Description : 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). - Genetic Heterogeneity of Serum Uric
Acid Concentration Quantitative Trait Loci See also UAQTL2 (see 612076), conferred
by variation in the SLC2A9 gene (606142) on chromosome 4p; UAQTL4 (612671), conferred
by variation in the SLC17A3 gene (611034) on chromosome 6p21; UAQTL5 (614746), associated
with a SNP on chromosome 19q13; and UAQTL6 (614747), associated with a SNP on chromosome
1.;
Inheritance : ? Autosomal dominant form;
Prefixed ID : #138900;
Origin ID : 138900;
UMLS CUI : C1841837;
Genes related to phenotype
- See also inter- (CISMeF)
- Semantic type(s)
