- 22q11.2 Deletion Syndrome
22q11.2 deletion syndrome is a disorder that involves many different areas of the body and can vary greatly in severity among people with the condition.
- Cerebrotendinous Xanthomatosis
Overview Cerebrotendinous xanthomatosis is a fat (lipid) storage disorder that affects many areas of the body. People with this disorder cannot break down certain lipids effectively, specifically different forms of cholesterol, so these fats accumulate …
- Chronic Granulomatous Disease
Chronic granulomatous disease (CGD) is a rare, inherited immunodeficiency that affects certain white blood cells.
- Cystic Fibrosis
Cystic fibrosis (CF) is a genetic disorder that causes mucus to build up and damage organs in the body, particularly the lungs and pancreas.
- Peroxisome Biogenesis Disorder (Zellweger Spectrum Disorders)
Overview Zellweger spectrum disorders (ZSDs) represent the major subgroup within the peroxisomal biogenesis disorders (PBD) caused by defects in PEX genes. The Zellweger spectrum is a clinical and biochemical continuum which can roughly be divided into …
- Primary Biliary Cholangitis
Other Names: PBC; Familial primary biliary cirrhosis; Primary Biliary Cirrhosis. Primary biliary cholangitis (PBC) is a rare liver disease that affects the bile ducts within the liver and is caused by an autoimmune reaction. The autoimmune reaction dam …
- Zellweger Syndrome
Overview Zellweger syndrome (cerebrohepatorenal syndrome), is a rare congenital disorder characterized by the reduction or absence of functional peroxisomes in the cells of an individual. It is one of a family of disorders called leukodystrophies. Zell …