Acid Sphingomyelinase Deficiency (ASMD) is a rare genetic disorder that affects the body's ability to break down a type of fat called sphingomyelin. This fat is found in cell membranes and is important for normal cell function. People with ASMD ha...

Acidemia Isovaleric is an inherited disorder caused by a deficiency of the enzyme isovaleryl-CoA dehydrogenase. This enzyme is responsible for breaking down the amino acid leucine, which is found in many foods. When this enzyme is deficient, leuci...

A rare genetic condition where the body can't process proteins adequately. More specifically, there are insufficient levels of the enzyme needed to break down an amino acid called leucine. This results in a build up of isovaleric acid which can harm ...

Acidemia, methylmalonic is an inherited disorder caused by a deficiency of the enzyme methylmalonyl-CoA mutase. This enzyme is responsible for breaking down certain proteins and fats in the body. Without it, these proteins and fats build up in the...

Acitretin/etretinate embryopathy is a rare condition caused by the use of acitretin or etretinate during pregnancy. These medications are used to treat severe psoriasis and other skin conditions. Exposure to these medications during pregnancy can ...

Acne is a skin condition that occurs when your hair follicles become plugged with oil and dead skin cells. It often causes whiteheads, blackheads or pimples, and usually appears on the face, forehead, chest, upper back and shoulders. Acne is most ...

Acne (acne vulgaris, common acne) is a disease of the hair follicles of the face, chest, and back that affects almost all teenagers during puberty -- the only exception being members of a few primitive Neolithic tribes living in isolatio...

Acoustic neuroma is a noncancerous (benign) tumor that develops on the main nerve leading from the inner ear to the brain. It is also known as a vestibular schwannoma. The tumor grows slowly and can press on the hearing and balance nerves, causing...

Acquired aneurysmal subarachnoid hemorrhage (aSAH) is a type of stroke caused by bleeding in the space between the brain and the thin tissues that cover it. It is usually caused by a ruptured aneurysm, a weak or thin spot in a blood vessel in the ...

Acquired angioedema type 1 (AAT1) is a rare, inherited disorder that causes recurrent episodes of swelling in the face, tongue, and/or throat. It is caused by a deficiency of the C1 esterase inhibitor protein, which is responsible for controlling ...

Acquired angioedema type 2 (AAE2) is a rare, inherited disorder that causes recurrent episodes of swelling in the face, tongue, and/or throat. It is caused by a deficiency of the C1-esterase inhibitor protein, which is responsible for regulating t...

Acquired angioedema with C1Inh deficiency is a rare condition in which the body does not produce enough of a protein called C1 inhibitor (C1Inh). This protein helps regulate the body's immune system and is important for controlling inflammation. W...

Acquired aplastic anemia is a rare, life-threatening blood disorder in which the body's bone marrow fails to produce enough new blood cells. This can lead to a decrease in red blood cells, white blood cells, and platelets. Symptoms of acquired apl...

Acquired central diabetes insipidus is a rare disorder that is caused by damage to the hypothalamus or pituitary gland. It is characterized by excessive thirst and the production of large amounts of dilute urine. People with this condition may exp...

Acquired cutis laxa is a rare skin disorder characterized by loose, sagging skin that is caused by a decrease in the amount of elastin, a protein that helps skin maintain its shape and elasticity. It can affect any area of the body, but is most co...

Acquired cystic disease-associated renal cell carcinoma (ACD-RCC) is a type of kidney cancer that is associated with chronic kidney disease. It is a rare form of renal cell carcinoma (RCC) that is characterized by the presence of multiple cysts in...

Acquired factor V deficiency is a rare disorder in which the body does not produce enough of the blood clotting factor V. This can lead to excessive bleeding and bruising. It is usually caused by an underlying medical condition, such as liver dise...