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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. ...

Factor V deficiency, also known as Owren disease or parahemophilia, is a rare genetic disorder in which affected individuals are missing a protein (Factor V) which is needed to effectively form blood clots.  The severity of this disease can vary widely; it can lead to minor bruising or fatal bleeding. ...

Factor X deficiency is a bleeding disorder resulting from an abnormally low level of Factor X (a.k.a. Stuart-Prower factor).  Factor X is synthesized by the liver and production is dependent upon vitamin K. Factor X deficiency can be inherited as a genetic disorder or can be acquired as the result of another medical condition.  The severity of this disease can vary widely; it can cause minor bru...

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