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 immunodeficiency due to ORAI1 deficiency is an ultra-rare genetic immune disorder where the body cannot move calcium properly into immune cells after they are activated....
Read articleX-linked moesin-associated immunodeficiency (often shortened to X-MAID) is a very rare, inherited immune system disease. In this condition, a change (mutation) in a gene called MSN...
Read articleImmunodeficiency type 50 is a very rare, inherited problem of the immune system. It mainly affects T cells and B cells, which are white blood cells...
Read articleCombined immunodeficiency due to moesin deficiency is a rare, inherited immune system disease where both T cells and B cells do not work properly, so the...
Read articleCombined immunodeficiency due to MALT1 deficiency is a rare genetic disease where the immune system does not work properly because a gene called MALT1 is damaged...
Read articleCommon variable immunodeficiency-8 with autoimmunity is a rare inherited immune system disease caused by harmful changes in the LRBA (lipopolysaccharide-responsive beige-like anchor) gene. This gene helps...
Read articleCombined immunodeficiency due to lipopolysaccharide-responsive beige-like anchor (LRBA) protein deficiency is a rare, inherited immune system disease where both antibody-producing cells (B cells) and T cells...
Read articleCombined immunodeficiency due to LRBA deficiency is a rare inherited disease where a mistake in a single gene (the LRBA gene) makes the immune system weak...
Read articleCombined immunodeficiency with intrauterine growth retardation–natural killer (NK) cell deficiency–neutropenia is a very rare, inherited immune system disease. In this condition, a baby grows poorly inside...
Read articleCombined immunodeficiency due to GINS complex subunit 1 deficiency is a very rare, inherited immune system disease. In this condition, a gene called GINS1 does not...
Read articleCombined immunodeficiency due to GINS1 deficiency is a very rare genetic disease that weakens the immune system from birth. “Combined immunodeficiency” means that more than one...
Read articleHyper-IgE syndrome (HIES) is a rare, inherited immune system disease where the body makes very high levels of the antibody IgE and cannot fight germs in...
Read articleAutosomal recessive hyper-IgE recurrent infection syndrome 2 is a rare genetic immune system disease where the body cannot fight germs properly and blood levels of the...
Read articleCombined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency is a rare, serious problem of the immune system caused by changes in a gene called...
Read articleCombined immunodeficiency due to DOCK8 deficiency is a rare, inherited disease where a gene called DOCK8 (dedicator of cytokinesis 8) does not work properly. Because of...
Read articleImmune dysfunction due to T-cell inactivation from a calcium entry defect is a very rare, inherited immune system disease. In this condition, T cells (a type...
Read articleCombined immunodeficiency due to calcium release-activated calcium (CRAC) channel dysfunction is a very rare, inherited immune system disease. In this condition, important white blood cells (especially...
Read articleCombined immunodeficiency due to CRAC channel dysfunction is a very rare inherited immune disease. In this condition, tiny calcium channels called CRAC channels in white blood...
Read articleSCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive is a very rare primary immune system disease. Doctors also call it immunodeficiency 17 or combined immunodeficiency due...
Read articleImmunodeficiency type 17 is a rare disease where part of the immune system does not work properly from birth. In this condition, a gene called CD3G...
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