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Thursday, Nov 20, 2008 | 10:24 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
Occipital Horn Syndrome (OHS)
X-linked cutis laxa
ATP7A-related copper transport disorders are a pair of genetic diseases, Occipital Horn Syndrome (OHS) and Menkes disease, which are both caused by a mutation in a copper-transporting ATPase gene (named ATP7A). Copper is an important mineral needed for growth and development. In these diseases, copper is not properly transported to certain areas of the body thus causing a lack of proper developm...
Omenn's Syndrome
Familial Reticuloendotheliosis
Omenn's Syndrome is a rare, inherited disorder of the immune system that belongs to a family of similar immune deficiencies known as SCID, or Severe Combined Immunodeficiency. SCID specifically affects three types of cells in our immune system: B lymphocytes, T lymphocytes and natural killer cells. Each of these cells plays an important role in fighting infection. Omenn Syndrome is the type o...
Optic Nerve Glioma
An optic nerve glioma is a tumor of the optic nerve, the pathway that carries visual information from the eye to the brain so that one can see. A glioma is a tumor made of glial cells, which are the cells that form the support structure for the optic nerve. Optic nerve gliomas involve a specific type of glial cell called astrocytes. Thus, an optic nerve glioma is often referred to as a low-grad...
Oral Facial Digital Syndrome Type I
Orofaciodigital Syndrome, OFD Syndrome Type I)
Oral Facial Digital Syndrome Type I (OFDI) is a rare genetic disorder characterized by abnormal formation of the face, mouth, hands, and feet. In some individuals the kidneys, brain and other areas may also be affected. The features of OFDI are very variable, even when several members of the same family are affected.
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Ornithine Transcarbamylase Deficiency (OTC)
Ornithine Transcarbamylase Deficiency (OTC) is a rare inherited disorder that affects the metabolism of nitrogen. Nitrogen comes from the protein found in our diet or from the breakdown of protein in our body that occurs when we are sick. Nitrogen from these sources is usually in the form of a chemical called ammonia. Ammonia must be removed from the body and for this to happen it must first be...