List of rare diseases

Rare diseases

Rare diseases, also known as Orphan diseases, are a category of diseases that are not common among the general population. The exact definition of a rare disease varies, but in general, it is a disease that affects fewer than 200,000 people in the United States at any given time.

Pronunciation

Rare diseases: /rɛər diːˈziːz/

Etymology

The term "rare diseases" comes from the fact that these diseases are not common. The term "orphan diseases" comes from the fact that these diseases are often neglected by the medical community and pharmaceutical companies because they are not profitable to research and treat.

Related terms

• Orphan drugs: Drugs that are developed to treat rare diseases. They are called "orphan" because they are often not profitable for pharmaceutical companies to develop and market.
• Genetic disorders: Many rare diseases are genetic disorders, which means they are caused by abnormalities in a person's genes or chromosomes.
• Congenital disorders: These are disorders that are present at birth. Many rare diseases are congenital disorders.

List of rare diseases

• Alkaptonuria: A genetic disorder that affects the body's ability to break down certain amino acids.
• Bartter syndrome: A group of rare genetic disorders that affect the kidneys.
• Crigler-Najjar syndrome: A rare genetic disorder that affects the metabolism of bilirubin, a chemical formed from the breakdown of the heme in red blood cells.
• Dercum's disease: A rare disorder characterized by painful, fatty tumors that occur most often in postmenopausal women.
• Ehlers-Danlos syndrome: A group of rare genetic disorders that affect the connective tissues that support the skin, bones, blood vessels, and many other organs and tissues.

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