Mucolipidosis (ML) is a group of inherited metabolic disorders that affect the body’s ability to carry out the normal turnover of various materials within cells.When originally named the mucolipidoses derived […]
List of articles in "Disease" category - Page 360
Cholesteryl ester storage disease
Cholesteryl ester storage disease (CESD) is the late onset phenotype for lysosomal acid lipase deficiency a Lysosomal storage disease which also has an early onset phenotype known as Wolman disease […]
Farber disease
Farber disease (also known as Farber’s lipogranulomatosis ceramidase deficiency Fibrocytic dysmucopolysaccharidosis and Lipogranulomatosis) is an extremely rare autosomal recessive lysosomal storage disease marked by a deficiency in enzyme ceramidase that […]
Wolman disease
Wolman disease (also known as Wolman’s disease or early onset lysosomal acid lipase deficiency is a rare genetic disorder caused by a deficiency of an enzyme known as lysosomal acid […]
Lipid storage disorder
Lipid storage disorders (or lipidoses) are a group of inherited metabolic disorders in which harmful amounts of lipids (fats) accumulate in some of the body’s cells and tissues. People with […]
Vaginal discharge
Vaginal discharge is a term given to biological fluids contained within or expelled from the vagina. It can be of various colors usually whitish yellowish or greenish.While most discharge is […]
Yellow nail syndrome
Yellow nail syndrome (also known as Primary lymphedema associated with yellow nails and pleural effusion) is a very rare medical syndrome that includes pleural effusions lymphedema (due to lymphatic hypoplasia) […]
Pseudoxanthoma elasticum
Pseudoxanthoma elasticum (PXE) also known as Grönblad–Strandberg syndrome is a genetic disease that causes fragmentation and mineralization of elastic fibers in some tissues. The most common problems arise in the […]
High-altitude cerebral edema
High-altitude cerebral edema (HACE) is a medical condition in which the brain swells with fluid because of the physiological effects of traveling to a high altitude. It generally appears in […]
Primary hypertrophic osteoathropathy
Pachydermoperiostosis (PDP) or Primary hypertrophic osteoathropathy (PHO) is a rare genetic disorder that affects both bones and skin. Other names are idiopathic hypertrophic osteoarthropathy or Touraine-Solente-Gole syndrome. It is mainly […]