Browse plain-English disease and condition guides, including symptoms, causes, diagnosis, treatment options, prevention, and when to seek medical care.
Anal Anomalies–Porokeratosis Syndrome, often referred to as AAPS, is a rare medical condition that affects various aspects of a person’s health. In this comprehensive article, we...
Read article11β-HSD2 deficiency is a rare genetic condition in which the body cannot properly switch the hormone cortisol into its inactive form, cortisone, inside certain kidney cells....
Read article1p36 microdeletion syndrome (also called 1p36 deletion syndrome) is a genetic condition that starts before birth. A small piece of chromosome 1, from the short arm...
Read article1q21.1 deletion syndrome (also called 1q21.1 microdeletion) is a genetic disorder caused by the loss of a small segment of DNA on the long arm (q...
Read article1q21.1 duplication syndrome (also called 1q21.1 microduplication) is a chromosomal copy-number variant in which a small segment of genetic material on the long (q) arm of...
Read article1q21.1 recurrent microdeletion is a tiny missing piece of DNA on chromosome 1, at a place called “1q21.1.” In this condition, one copy of chromosome 1...
Read article2-methylacyl-CoA racemase deficiency is a very rare inherited metabolic disease. It happens when the body does not make enough working AMACR enzyme. This enzyme helps break...
Read article2,8-dihydroxyadenine (DHA) urolithiasis is a rare form of kidney stone disease. It happens when the body cannot recycle the purine base adenine in the normal “salvage”...
Read article2,8-dihydroxyadeninuria is a rare, inherited problem of purine recycling. Your body normally reuses adenine (a building block of DNA) using an enzyme called APRT (adenine phosphoribosyltransferase)....
Read article21-hydroxylase-deficient congenital adrenal hyperplasia (CAH) is a genetic disease that affects how the adrenal glands make important hormones called cortisol and aldosterone. The adrenal glands are...
Read article3-beta-hydroxy-delta-5-c27-steroid dehydrogenase deficiency is a very rare inherited liver disease. It is one of the bile acid synthesis disorders. In this condition, the liver cannot make...
Read article3-methylglutaconic aciduria type 2 is a rare, inherited condition that almost always affects boys. It is also called Barth syndrome. It happens because of a change...
Read articleAutoimmune retinopathy represents a spectrum of retinal degenerative disorders and rare autoimmune diseases that primarily affect retinal photoreceptor function with that including paraneoplastic (PAIR) and nonparaneoplastic...
Read articleAutoimmune pancreatitis is an immune-mediated chronic inflammatory disease of the pancreas that affects a gland behind the stomach and in front of the spine, and can...
Read articleAutoimmune oophoritis is a chronic autoinflammatory, rare autoimmune disease of the ovary caused by primary ovarian insufficiency (POI). Autoimmune oophoritis is an autoimmune inflammation of ovaries...
Read articleMyocarditis is a rare inflammatory disease of cardiovascular disease that is primarily caused by sudden death, chest pain, heart failure, shortness of breath, fatigue, ankle swelling,...
Read articleAutoimmune myocarditis is an autoimmune, chronic idiopathic multisectoral inflammatory disease that is characterized by inflammation of the heart muscle (myocardium). The inflammation can reduce the heart’s...
Read articleSusac syndrome is an autoimmune rare relatively rare disorder of the brain characterized by three main problems of impaired brain function (encephalopathy), partial or complete blockage...
Read articleAutoimmune inner ear disease (AIED) is an unusual form of progressive inflammatory non-age-related sensorineural hearing loss and sometimes vertigo, dizziness, tinnitus. It occurs in both ears...
Read articleAutoimmune hepatitis is a chronic inflammatory autoimmune disease of the liver. It usually occurs by itself, but it can coexist with other autoimmune diseases. Autoimmune hepatitis is...
Read articleLimbic encephalitis represents a group of autoimmune conditions characterized by inflammation of the limbic system and other parts of the brain. The cardinal sign of limbic encephalitis is a severe impairment of...
Read articleAutoimmune encephalitis refers to a group of conditions that occur when the body’s immune system mistakenly attacks healthy brain cells, leading to inflammation of the brain. People with autoimmune encephalitis...
Read articleAutoimmune autonomic ganglionopathy (AAG) is a condition in which the body’s immune system mistakenly attacks and damages certain parts of the autonomic nervous system. AAG may...
Read articleAcquired angioedema (AAE) is a rare disorder that causes recurrent episodes of swelling (edema) of the face or body, lasting several days. People with AAE may...
Read articleAntiphospholipid (AN-te-fos-fo-LIP-id) syndrome occurs when your immune system mistakenly creates antibodies that make your blood much more likely to clot. Antiphospholipid syndrome (APS) is an autoimmune syndrome...
Read articleAmyloidosis is a progressive inflammatory non-age-related sensorineural disorder in which abnormal proteins build up in tissues and organs. The cause of primary amyloidosis is unknown. The condition...
Read articleAlopecia areata is an autoimmune inflammatory, a chronic ear disorder that is characterized by progressive hair loss. Alopecia areata is found equally in both men and...
Read articleAgammaglobulinemia is an autoimmune inflammatory, a chronic disorder related to antibody deficiency (hypogammaglobulinemia), and disorders in which the immune system is compromised. This group of immune...
Read articleAdult Still’s disease is an immune-mediated rare type of inflammatory arthritis that features fevers, rash, joint pain, morning stiffness and, multiple joints pain. Some people may...
Read articleAddison’s disease is an uncommon autoimmune disease, characterized by chronic and insufficient functioning of the outer layer of the adrenal gland. The adrenal glands are located...
Read articleAchalasia is a rare disorder that makes it difficult for food and liquid to pass into your stomach. Achalasia occurs when nerves in the tube connecting...
Read articleSerum sickness is an immune-complex-mediated hypersensitivity reaction that is similar to allergic reactions that classically presents with itching, fever, skin rash, polyarthritis, or polyarthralgia. The immune...
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