H01532                      Disease                                
Serum uric acid concentration quantitative trait locus (UAQTL)
D-lactic aciduria with Gout (DLACD)
Gout is a kind of arthritis associated with hyperuricemia. It is triggered due to precipitation and deposition of inflammatory monosodium urate crystals in synovial and other tissues, accompanied by severe pain. The most common symptom include swelling, tenderness, warmth and redness. Mostly, the joint at the base of the big toe is affected, gout progresses with more frequent attacks that involve multiple joints. Joint pain that used to resolve in a week to 10 days could become a milder, but constant pain. Eventually, untreated gout can cause other comorbidities such as high blood pressure, diabetes, chronic kidney disease and cardiovascular disease. The incidence of the disease is more common in 40s men than women, but gout in women after menopause appears increased risk. Recently, the onset in 20s increases. The development of gout is not only associated with sex, age, race and genetics, but also diet and lifestyle are contributed to increasing prevalence of the disease. Epidemiology studies reported that the excessive intake of alcohol and purine rich food, which excessively produce uric acid, leads to accumulation of uric acid.
Musculoskeletal disease
Human diseases [BR:br08402]
 Musculoskeletal diseases
  Other musculoskeletal diseases
   H01532  Gout
Human diseases in ICD-11 classification [BR:br08403]
 15 Diseases of the musculoskeletal system or connective tissue
   Inflammatory arthropathies
    FA25  Gout
     H01532  Gout
(GOUT1) ABCG2 [HSA:9429] [KO:K05681]
(GOUT2) SLC2A9 [HSA:56606] [KO:K08146]
(GOUT4) SLC17A3 [HSA:10786] [KO:K12300]
(GOUT5/DLACD) LDHD [HSA:197257] [KO:K00102]
Env factor
Alcohol, Purine rich food, Fructose/Sugar-sweetened beverages
Dexamethasone [DR:D00292]
Dexamethasone sodium phosphate [DR:D00975]
Hydrocortisone [DR:D00088]
Indomethacin [DR:D00141]
Naproxen [DR:D00118]
Naproxen sodium [DR:D00970]
Cortisone acetate [DR:D00973]
Allopurinol [DR:D00224]
Febuxostat [DR:D01206]
Lesinurad and allopurinol [DR:D11175]
Probenecid [DR:D00475]
Lesinurad [DR:D09921]
Colchicine [DR:D00570]
Pegloticase [DR:D09316]
Probenecid and colchicine [DR:D11574]
Other DBs
ICD-11: FA25
ICD-10: M10
MeSH: D006073
OMIM: 138900 612076 612671 245450
PMID:25151572 (description and drug)
Dalbeth N, Lauterio TJ, Wolfe HR
Mechanism of action of colchicine in the treatment of gout.
Clin Ther 36:1465-79 (2014)
PMID:21894471 (description and drug)
Sunkureddi P
Gouty arthritis: understanding the disease state and management options in primary care.
Adv Ther 28:748-60 (2011)
PMID:26977282 (drug)
Bernal JA, Quilis N, Andres M, Sivera F, Pascual E
Gout: optimizing treatment to achieve a disease cure.
Ther Adv Chronic Dis 7:135-44 (2016)
MacFarlane LA, Kim SC
Gout: a review of nonmodifiable and modifiable risk factors.
Rheum Dis Clin North Am 40:581-604 (2014)
Dehghan A, Kottgen A, Yang Q, Hwang SJ, Kao WL, Rivadeneira F, Boerwinkle E, Levy D, Hofman A, Astor BC, Benjamin EJ, van Duijn CM, Witteman JC, Coresh J, Fox CS
Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study.
Lancet 372:1953-61 (2008)
Drabkin M, Yogev Y, Zeller L, Zarivach R, Zalk R, Halperin D, Wormser O, Gurevich E, Landau D, Kadir R, Perez Y, Birk OS
Hyperuricemia and gout caused by missense mutation in d-lactate dehydrogenase.
J Clin Invest 129:5163-5168 (2019)

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