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Wednesday, Dec 03, 2008 | 12:47 PM
Madisons Foundation - Moms And Dads In Search Of Needed Support
m-Power® Rare Pediatric Disease Database
Full disease list by letter:
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Alpers' Disease
Progressive Infantile Poliodystrophy, Alpers-Huttenlochen Syndrome, Progressive Neuronal Degeneratio
Alpers’ disease is an extremely rare degenerative disease of the brain that affects infants and children. It is characterized by developmental delay, seizures, and liver disease. The disease is progressive (gets worse with time) and is fatal.
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Alpha and Beta Thalassemia
The Thalassemias are a hereditary form of hemolytic anemias characterized by a defect in the body's production of hemoglobin protein. Hemoglobin (Hb) is the oxygen-carrying component of red blood cells (RBC). Thus, with defective hemoglobin, RBC production is also impaired and the RBC's are unable to carry the necessary amount of oxygen. Hemoglobin is made of two different proteins, an a...
Alpha-1-Antitrypsin Deficiency
Alpha-1-Antitrypsin Deficiency is a rare disorder where the body makes an enzyme called alpha-1-antitrypsin (AAT) that does not work. This enzyme is needed to protect the lungs. Also, the non-working enzyme can build up in the liver and cause harm. Not having the enzyme AAT can result in lung and liver disease.
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Alpha-Mannosidosis
Alpha-Mannosidosis is a rare genetic disorder that usually manifests with mental retardation, hearing impairment, various bone changes, and recurrent infections. It is a part of a larger group of disorders known as the lysosomal storage diseases.
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Alport Syndrome
Hereditary nephritis
Alport syndrome (also known as hereditary nephritis) is a genetic disorder that primarily results in problems with hearing, the eye and the kidney.
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