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Thursday, Nov 20, 2008 | 08:17 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
Hepatitis E Virus (HEV)
Hepatitis is a general term referring to inflammation of the liver. Hepatitis E is a specific type of hepatitis caused by the Hepatitis E virus (HEV), a single-stranded RNA virus very similar to the other types of hepatitis. HEV is primarily a problem in the developing world and is only very rarely seen in developed nations such as the United States. In the vast majority of cases, hepatitis E i...
Hepatoblastoma
Hepatoblastoma is a very rare cancer of the liver. It is, however, the most common liver cancer seen in children.
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Hereditary Angioedema (HAE)
Angioedema is a condition in which tissues in the body become swollen or full of fluid. This swelling can be caused by a number of factors including food or drug allergies or inherited genetic alterations. Hereditary angioedema (HAE) is one type of angioedema. It is a genetic disorder caused by a diminished activity or decreased amount of a blood protein known as C1 inhibitor. This C1 inhibitor p...
Hereditary Orotic Aciduria
UMPS Deficiency, Orotidylic Decarboxylase Deficiency,
Uridine Monophosphate Synthetase Deficiency
Hereditary orotic aciduria is a rare, inherited, metabolic disorder that results from a deficiency of orotate phosphoribosyl transferase (ORPT) and OMP decarboxylase, 2 enzymes (proteins that enhance metabolic reactions in our bodies) necessary for the production of DNA, the material that carries the genetic code in our body. Children with orotic aciduria have problems with red blood cell product...
Hereditary Spherocytosis (HS)
Hereditary spherocytosis (HS) is caused by a genetic defect that produces abnormally shaped red blood cells (RBC). The defect causes a change in the protein composition of the cell membrane thereby affecting the surface area of the cell and giving it the characteristic abnormal spherical shape. These cells are less deformable than normal RBCs and are prone to premature destruction and removal by t...