Gout (GOUT)

External Ids:

Disease Ontology 11 DOID:13189 ICD9CM 34 274 274.0 MeSH 43 D006073 D015210 NCIt 49 C34650 SNOMED-CT 68 201661008 90560007

ICD10 31 M10 M10.3 M10.9 M14.0 more EFO 16 EFO_0004274 ICD11 33 1314118973 1957497923 395622227 526468865 526468865/other 526468865/unspecified more UMLS 71 C0003868 C0018099

MedlinePlus Genetics: ⁴² Gout is a type of arthritis, which is a group of related disorders caused by episodes of abnormal inflammation in the joints. People with gout have high levels of a substance called urate in the blood (hyperuricemia). Gout develops when hyperuricemia leads to the formation of urate crystals in joints, triggering an inflammatory response from the immune system.In people with gout, the first episode of inflammation (called a flare) usually affects the big toe or other joints in the foot or ankle. If urate levels remain high, flares can recur, affecting additional joints throughout the body. The time between flares varies among affected individuals; however, most people who experience multiple flares have their second one within a year of their first.Flares usually begin at night and can last several days. It is unclear what causes a flare to stop; the body likely turns off the inflammation response after a certain period of time. During a flare, individuals can experience throbbing or burning pain, swelling, warmth, redness, and difficulty moving the affected joint. Fevers may occur, after which the skin over the affected joint can begin to peel. Without treatment, people with gout can experience frequent flares and joint pain and damage, which can limit mobility and decrease quality of life.In about 15 percent of people with gout, urate accumulates in the kidneys and forms kidney stones. As the condition worsens, urate crystals can also be deposited under the skin or in other soft tissue, forming a nodule called a tophus (plural: tophi). These tophi often form in the hands, elbows, or feet. Tophi do not typically cause pain, but they can become inflamed, infected, or ooze fluid. Depending on their location, tophi can interfere with movements such as walking or gripping objects.Many people with gout also have other health conditions. Most affected individuals have high blood pressure (hypertension), chronic kidney disease, or obesity. Some also have diabetes, heart disease, or a history of stroke. It is unclear whether gout is the cause of a person's increased risk for these conditions, or whether the conditions cause the development of gout, or whether both of these situations occur to influence disease.

MalaCards based summary: Gout, also known as gouty arthritis, is related to tubulointerstitial kidney disease, autosomal dominant, 1 and phosphoribosylpyrophosphate synthetase superactivity, and has symptoms including back pain, sciatica and muscle cramp. An important gene associated with Gout is DARS2 (Aspartyl-TRNA Synthetase 2, Mitochondrial), and among its related pathways/superpathways are Disease and Overview of interferons-mediated signaling pathway. The drugs Febuxostat and Prednisolone phosphate have been mentioned in the context of this disorder. Affiliated tissues include joint, kidney and skin, and related phenotypes are homeostasis/metabolism and renal/urinary system

MedlinePlus: ⁴¹ Gout is a common, painful form of arthritis. It causes swollen, red, hot and stiff joints. Gout happens when uric acid builds up in your body. Uric acid comes from the breakdown of substances called purines. Purines are in your body's tissues and in foods, such as liver, dried beans and peas, and anchovies. Normally, uric acid dissolves in the blood. It passes through the kidneys and out of the body in urine. But sometimes uric acid can build up and form needle-like crystals. When they form in your joints, it is very painful. The crystals can also cause kidney stones. Often, gout first attacks your big toe. It can also attack ankles, heels, knees, wrists, fingers, and elbows. At first, gout attacks usually get better in days. Eventually, attacks last longer and happen more often. You are more likely to get gout if you: Are a man Have family member with gout Are overweight Drink alcohol Eat too many foods rich in purines Gout can be hard to diagnose. Your doctor may take a sample of fluid from an inflamed joint to look for crystals. You can treat gout with medicines. Pseudogout has similar symptoms and is sometimes confused with gout. However, it is caused by calcium phosphate, not uric acid. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases

PubMed Health : ⁶³ Gout: Gout is a metabolic disorder which causes inflammation of the joints. During acute episodes, certain joints swell up within just a few hours and become very sensitive to pain. The inflammation is triggered by tiny needle-shaped crystals of uric acid that mainly build up in the joints. These crystals may form if there is too much uric acid in the body. The inflammation normally goes away on its own within one to two weeks. The pain can be relieved with medication. Most people with gout experience acute attacks every now and then. Months or even years can pass between attacks, but they may be more frequent too. There are a number of options to prevent them. Some people already notice an improvement if they avoid certain foods and other possible triggers. Others may take medication to lower their uric acid levels over the long term. The medication is mostly considered for people who have frequent gout attacks or complications such as kidney stones or lumps called tophi. Many people have high levels of uric acid without it causing any noticeable problems. It's not clear whether this affects their health. It doesn't need to be treated.

CDC: ² Gout is a common form of inflammatory arthritis that is very painful. It usually affects one joint at a time (often the big toe joint). There are times when symptoms get worse, known as flares, and times when there are no symptoms, known as remission. Repeated bouts of gout can lead to gouty arthritis, a worsening form of arthritis. There is no cure for gout, but you can effectively treat and manage the condition with medication and self-management strategies.

Disease Ontology: ¹¹ An arthritis that has material basis in uric acid crystal deposits located in joint.

Wikipedia: ⁷⁵ Gout (/ɡaʊt/ GOWT) is a form of inflammatory arthritis characterized by recurrent attacks of a red,... more...

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	no effect	GR00402-S-1	10.18	ABCG2 ALB CXCL8 CYP2C8 CYP2E1 DARS2
2	no effect	GR00402-S-2	10.18	ABCG2 ALB APRT CYP2C8 CYP2E1 DARS2

The treatment of gout has two aims: In the short term, it should provide pain relief during gout attacks. In the long term, it should prevent further attacks and lower the risk of chronic inflammations and joint damage. Gout attacks are treated with anti-inflammatory medications. These include anti-inflammatory painkillers, such as ibuprofen , indometacine or naproxen , steroid medicines (usually tablets with prednisolone ), as well as the gout medicine colchicine . Because colchicine is slow to start working and has certain possible side effects, it is no longer used very often. If a single drug can’t provide enough pain relief, the treatments can be combined. Cooling the affected joint probably also helps, and most people find it very soothing. The goal of long-term gout treatment is to prevent gout attacks and complications by lowering the level of uric acid . This can be done in two ways: Changing your diet: Especially eating less meat, fish and seafood, and drinking less alcohol. Taking medication to lower your uric acid levels, typically allopurinol . Not everyone who has gout needs to take medicine to lower their uric acid levels. In particular, people who have already had a gout attack usually don’t need to take it. This is because some people don't have any problems after that for years, and others only have them rarely. Medication is mainly used if the attacks become more frequent or are very distressing. It also makes sense to take it if complications such as tophi or kidney stones have already developed, or if the functioning of the kidney is affected. Medication might also be an option if changes to your diet aren’t enough to make a difference.

Search NIH Clinical Center for Gout

ACETYLSALICYLATE SODIUM Allopurinol Aspirin ASPIRIN PWDR Colchicine Gout Suppressants Ibuprofen Indomethacin

INDOMETHACIN PWDR INDOMETHACIN SODIUM Naproxen Naproxen sodium Probenecid solufenum Sulfinpyrazone Sulindac

Search GEO for disease gene expression data for Gout.