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Thursday, Nov 20, 2008 | 09:05 PM
Madisons Foundation - Moms And Dads In Search Of Needed Support
m-Power® Rare Pediatric Disease Database
Full disease list by letter:
3 | A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | R | S | T | U | V | W | X | Y | Z | All
3 | A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | R | S | T | U | V | W | X | Y | Z | All
Polycythemia Vera
Primary Polycythemia, Polycythemia Rubra Vera, Erythremia, Vasquez-Osler Disease
Polycythemia vera (from the Latin ‘vera’, true, and ‘polycythemia,’ many blood cells) is a disease of abnormal blood cell production. The red blood cells are always affected while the overproduction of two other blood cell lines: white blood cells and platelets may also be involved. Excessive amounts of these blood cells results in increased viscosity (thickness) of the blood leading to a multitu...
Polyglandular Autoimmune Syndrome, Type 1
Whitaker syndrome, Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy
Polyglandular Autoimmune Syndrome, type 1 (PGA-1) is a very rare genetic autoimmune disorder characterized by skin infections with a specific type of fungus and decreased function of several endocrine glands. These endocrine glands make hormones that control the body’s metabolism and other body functions. There are three types of PGA; types 2 and 3 occur only in adults and are separated by the end...
Pompe Disease
Glycogen Storage Disease II;
Acid Maltase Deficiency
Glycogen Storage Disease II (GSD II) is a rare genetic disorder that is classified as both a glycogen storage disease and a lysosomal storage disease. The disorder was first described by Dr. Pompe in 1932. Lysosomes are the major digestive units in cells that contain enzymes to break down or “digest” nutrients. One of these enzymes is called alpha-1,4-glucosidase (GAA), or acid maltase. This enzym...
Potter's Syndrome
Bilateral Renal Agenesis
Potter’s syndrome is a condition that is characterized by typical facial features and lung problems that are most commonly a result of underdeveloped or absent kidneys. In the fetal period, the kidneys are responsible for circulation of amniotic fluid which bathes and protects the baby. If the kidneys fail to develop properly, there is a deficiency of amniotic fluid (oligohydramnios), which leads ...
Prader-Willi Syndrome
Prader-Willi Syndrome (PWS) is an inherited genetic disorder that is characterized by very low tone (hypotonia) and feeding problems in infancy followed by an uncontrollable appetite leading to obesity later in childhood. Children also are short, developmentally delayed, and have small hands, feet, and genitalia.
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