Primary aldosteronism (al-DOS-tuh-ro-niz-um) is a type of hormonal disorder that leads to high blood pressure. Your adrenal glands produce a number of essential hormones. One of these is aldosterone, which balances sodium and potassium in your blo...

Argininosuccinic aciduria is a rare inherited disorder characterized by deficiency or lack of the enzyme argininosuccinate lyase (ASL). Argininosuccinate lyase is one of six enzymes that play a role in the breakdown and removal of nitrogen from th...

Autosomal dominant interstitial kidney disease describes a group of diseases affecting solely the proper function of the kidney and having the following characteristics: They are inherited in an autosomal dominant manner; kidney disease develops, ...

Autosomal dominant interstitial kidney disease describes a group of diseases affecting solely the proper function of the kidney and having the following characteristics: They are inherited in an autosomal dominant manner; kidney disease develops, ...

General DiscussionJervell and Lange-Nielsen syndrome (JLNS) is a rare inherited disorder characterized by deafness present at birth (congenital) occurring in association with abnormalities affecting the electrical system of the heart. The...

Progeria, or Hutchinson-Gilford progeria syndrome (HGPS), is a rare, fatal, genetic condition of childhood with striking features resembling premature aging. Children with progeria usually have a normal appearance in early infancy. At approximatel...

Von Hippel-Lindau syndrome (VHL) is an autosomal dominant genetic disorder characterized by the abnormal growth of blood vessels in certain parts of the body (angiomatosis). Very small blood vessels (capillaries) "knot" together to form benign gro...

IgA nephropathy (nuh-FROP-uh-thee), also known as Berger's disease, is a kidney disease that occurs when an antibody called immunoglobulin A (IgA) lodges in your kidneys. This results in local inflammation that, over time, may hamper your kidneys'...

Bartter's syndrome (BS) is a group of conditions involving enlargement of certain kidney cells, blood that is more alkaline than normal, high levels of potassium and chloride in the urine, loss of potassium from the kidneys (renal potassium wastin...

Bilateral Renal Agenesis is the absence of both kidneys at birth. It is a genetic disorder characterized by a failure of the kidneys to develop in a fetus. This absence of kidneys causes a deficiency of amniotic fluid (Oligohydramnios) in a pregna...

Macular degeneration facts The macula is in the center of the retina, the light-sensitive layer of tissue at the back of the eye. The macula is responsible for central vision (straight-ahead vision). Degeneration of the macula occur...

General DiscussionSneddon syndrome is a rare progressive disorder affecting the blood vessels characterized by the association of a skin condition and neurological abnormalities. Characteristics include multiple episodes of reduced blood ...

Sneddon syndrome is a rare progressive disorder affecting the blood vessels characterized by the association of a skin condition and neurological abnormalities. Characteristics include multiple episodes of reduced blood flow to the brain (cerebral...

Large arteries Open pop-up dialog box Close Large arteries Large arteries Takayasu's arteritis is a form of vasculitis — inflammation of the blood vessels — that damages the large arteries, especially the aorta. Chamber...

Von Hippel-Lindau syndrome (VHL) is an autosomal dominant genetic disorder characterized by the abnormal growth of blood vessels in certain parts of the body (angiomatosis). Very small blood vessels (capillaries) "knot" together to form benign gro...