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Fabry disease is a very rare, inherited disorder that most commonly affects children. This disease is characterized as a lysosomal storage disease with a problem in breaking down glycosphingolipids. Glycosphingolipids (a type of fatty material ) are needed as part of the envelope that surrounds the cell. Lysosomal storage disorders are a subtype of genetic disorders that affect a cellular compon...

Facioscapulohumeral Muscular Dystrophy (FSHD) is a disorder that causes weakness in the muscles of the face, scapula (shoulder blades), upper arm, lower leg, and hips. Classic FSHD is a slowly progressive disorder and about 20% of patients will eventually need a wheelchair. Infantile FSHD is a rapidly progressive disorder that usually requires wheelchair use by the age of 9-10 years. ...

Normal blood clotting is a complex process involving many proteins known as blood coagulation factors. A series of complex chemical reactions using these factors takes place after blood vessels are injured to form a clot that stops bleeding. Factor V deficiency is an inherited abnormal blood coagulation or clotting disorder caused by a deficiency of the blood protein called factor V. Bleeding ran...

Factor X deficiency is a disorder of abnormal blood clotting (coagulation), caused by a shortage of a plasma protein called factor X. Factor X is a vitamin K dependent protein that plays a critical role with other clotting factors to form a substance called fibrin that stops bleeding. Without adequate levels of factor X, simply cuts and bruises can become significant sources of bleeding. ...

Factor XII deficiency is a rare, inherited, blood disorder that usually goes unnoticed until there are abnormalities in specific blood coagulation tests. While Factor XII levels can be dangerously low, most children with Factor XII deficiency do not have problems with excessive bleeding. Hageman Factor is a blood protein that participates in the blood clotting cascade, which is a chain reaction th...

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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