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 articleCongenital enterocyte heparan sulfate deficiency is a very rare, severe, genetic intestinal disease. In this condition, the small bowel lining cells, called enterocytes, do not show...
Read articleCongenital ectropion uveae, often shortened to CEU, is a very rare eye condition present from birth. In this condition, the dark pigment layer that normally stays...
Read articleCongenital dyserythropoietic anemia, type III, also called CDA type III, is a very rare inherited blood disease. In this disease, the bone marrow tries to make...
Read articleCongenital dyserythropoietic anemia, type I, usually called CDA type I, is a rare inherited blood disease. In this disease, the bone marrow tries to make red...
Read articleCongenital dyserythropoietic anemia due to KLF1 mutation is a very rare inherited red blood cell disease. In most reported cases, doctors describe it as congenital dyserythropoietic...
Read articleCongenital dyserythropoietic anemia due to KLF1 mutation is a very rare inherited red blood cell disease. In most reported cases, doctors describe it as congenital dyserythropoietic...
Read articleHEMPAS – Hereditary Erythroblast Multinuclearity with Positive Acid Serum Test is a rare inherited blood disease. Its full old name is hereditary erythroblastic multinuclearity with positive...
Read articleCongenital dyserythropoietic anemia type 2, also called CDA type II, is a rare inherited blood disease. In this disease, the body makes red blood cells in...
Read articleComponent of oligomeric Golgi complex 2–congenital disorder of glycosylation is usually called COG2-CDG. It is a very rare inherited metabolic disease. In this disease, both copies...
Read articleCongenital disorder of glycosylation, type IIq, is a very rare inherited metabolic disease. It is now also commonly called COG2-CDG because it is caused by harmful...
Read articleDPM1-CDG means dolichyl-phosphate mannosyltransferase 1 catalytic subunit congenital disorder of glycosylation. It is a very rare inherited metabolic disease. In this condition, the DPM1 gene does...
Read articleDolichol-phosphate-mannose synthase 1 deficiency is a very rare inherited disease. Doctors also call it DPM1-CDG. It belongs to a group called congenital disorders of glycosylation, or...
Read articleDol-P-mannosyltransferase deficiency is a very rare inherited congenital disorder of glycosylation (CDG). It happens when the body cannot correctly make or use dolichol-phosphate-mannose, a small but...
Read articleCongenital disorder of glycosylation caused by mutation in DPM1 is a very rare inherited metabolic disease. It is usually called DPM1-CDG. In this condition, the body...
Read articleCongenital disorder of glycosylation type 1e, also called DPM1-CDG or CDG-Ie, is a very rare inherited metabolic disease. It happens when the DPM1 gene does not...
Read articleCongenital disorder of glycosylation, usually called CDG, is a large group of rare inherited metabolic diseases. In these diseases, the body cannot correctly attach sugar chains...
Read articleNGLY1-related congenital disorder of deglycosylation is a very rare inherited disease that affects many parts of the body, especially the brain, nerves, eyes, liver, and development....
Read articleGUCY2C congenital diarrhea is a very rare inherited bowel disease that usually starts before birth or in the first days or weeks of life. It happens...
Read articleCongenital diarrhea caused by mutation in GUCY2C is a very rare inherited bowel disease in which a change in the GUCY2C gene makes the intestine send...
Read articleChronic diarrhea due to guanylate cyclase 2C overactivity is a very rare inherited intestinal disease. It is caused by an overactive GUCY2C gene, which makes the...
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