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 articleCombined oxidative phosphorylation deficiency caused by mutation in RMND1 is a very rare inherited disease in which the tiny “power stations” of the cell (mitochondria) cannot...
Read articleHereditary xanthinuria type 2 is a very rare, life-long (genetic) disease of purine metabolism, which is the way the body breaks down some building blocks of...
Read articleDeficiency of molybdenum cofactor (often shortened to MoCD) is a very rare inherited disease. In this disease, the body cannot make a tiny helper molecule called...
Read articleCombined malonic and methylmalonic acidemia (CMAMMA) is a very rare genetic disease. It happens when the body cannot handle two natural chemicals called malonic acid and...
Read articleImmunodeficiency with granulomatosis is a health problem where the immune system is weak and does not work in a normal way, and at the same time...
Read articleCombined immunodeficiency due to RAG1/2 deficiency is a serious inherited disease where the immune system cannot build normal T cells and B cells, which are the...
Read articleCombined immunodeficiency with skin granulomas is a rare inherited immune system disease. In this condition, both main arms of the adaptive immune system (T cells and...
Read articleRoifman-Chitayat syndrome (often shortened to ROCHIS) is a combined primary immunodeficiency. “Combined” means both the antibody-producing (B-cell) and T-cell parts of the immune system do not...
Read articleCombined immunodeficiency with faciooculoskeletal anomalies is a very rare genetic disease. It affects the immune system, the face, the eyes, the bones, and body development at...
Read articleZeta-associated-protein 70 deficiency (often called ZAP-70 deficiency) is a rare, inherited problem of the immune system. It mainly affects T cells, which are white blood cells...
Read articleCombined immunodeficiency due to ZAP70 deficiency is a very rare genetic immune system disease where a child’s T cells do not work properly because a key...
Read articleT-cell immunodeficiency with recurrent infections, autoimmunity, and cardiac (heart) malformations is a group of problems where the body’s defense system and the heart do not develop...
Read articleCombined immunodeficiency due to STK4 deficiency is a rare, inherited disease of the immune system. In this condition, a gene called STK4 (also called MST1) does...
Read articleCombined immunodeficiency due to STIM1 deficiency is a very rare inherited disease where the immune system does not work properly because a gene called STIM1 is...
Read articleCombined immunodeficiency with expansion of gamma delta T cells (often shortened to CID with γδ T-cell expansion) is a rare group of primary (inborn) immune system...
Read articleCombined immunodeficiency due to partial RAG1 deficiency is a rare genetic disease where a child is born with an immune system that works, but works only...
Read articleImmunodeficiency type 16 is a very rare inherited problem of the immune system. Doctors also call it “immunodeficiency-16” or “IMD16.” It is a primary immunodeficiency, which...
Read articleCombined immunodeficiency with impaired immunity to human herpes virus 8 is a very rare inherited immune system disease. [1] In this disease, the body cannot make...
Read articleCombined immunodeficiency with impaired immunity to HHV-8 is a very rare, inherited problem of the immune system where both T cells and B cells do not...
Read articleCombined immunodeficiency due to OX40 deficiency is a very rare inherited disease of the immune system. In this condition, a gene called TNFRSF4, also known as...
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