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Genetic Disorders
Factor V Leiden thrombophilia is an inherited disorder of blood clotting.
… Factor V Leiden thrombophilia is an inherited disorder of blood clotting. … embolism, or PE). Factor V Leiden is the most common inherited form of thrombophilia. Between 3 and 8 percent of … venous thrombosis in unusual sites in the body such as the brain or the liver. Having a DVT or PE during or right after …
For Patients and Families
Genetic professionals provide information and support to individuals or families who have genetic disorders or may be at risk for inherited conditions.
… and support to individuals or families who have genetic disorders or may be at risk for inherited conditions. … and support to individuals or families who have genetic disorders or may be at risk for inherited conditions. Genetic professionals: Assess the risk …
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… in the DNA sequence away from the normal sequence. Genetic disorders can be caused by a mutation in one gene (monogenic … component. Some diseases are caused by mutations that are inherited from the parents and are present in an individual … that occur during a person's life. Such mutations are not inherited from a parent, but occur either randomly or due to …
News Release
Learn what happens when two genetic neighborhoods merge in brain tumor cells after a gene controlled by a gene-control switch turned on a cancer-growth gene.
… what happens when two genetic neighborhoods merge in brain tumor cells. Researchers found that one gene came under … Institute (NHGRI). Gliomas are the most common type of brain tumor in adults, but these tumors are difficult to … Learn what happens when two genetic neighborhoods merge in brain tumor cells after a gene controlled by a gene-control …
Genetic Disorders
Alpha-1 antitrypsin deficiency is an inherited condition that causes low levels of, or no, alpha-1 antitrypsin in the blood.
… Alpha-1 antitrypsin deficiency is an inherited condition that causes low levels of, or no, alpha-1 … Alpha-1 antitrypsin deficiency (AATD) is an inherited condition that causes low levels of, or no, alpha-1 … Alpha-1 antitrypsin deficiency (AATD) is inherited in families in an autosomal codominant pattern. …
Genetic Disorders
Retinitis pigmentosa is a group of inherited eye diseases that affect the retina (the light-sensitive part of the eye).
… Retinitis pigmentosa is a group of inherited eye diseases that affect the retina (the … Retinitis pigmentosa (RP) is the name given to a group of inherited eye diseases that affect the retina (the … Retinitis pigmentosa is an inherited disorder, and therefore not caused by injury, …
Genetic Disorders
Achondroplasia is a disorder of bone growth and the most common form of disproportionate short stature.
… decompression is performed to decrease pressure on the brain. Children who have achondroplasia need careful … Most cases of achondroplasia are not inherited. When achondroplasia is inherited, it is inherited in an autosomal dominant manner. … Is achondroplasia inherited? …
Genetic Disorders
Duane syndrome is a rare, congenital eye movement disorder.
… Genetic Disorders …
Genetic Disorders
Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30.
… Is Crohn's disease inherited? … Genetic Disorders …
Genetic Disorders
Hemophilia is a bleeding disorder that slows down the blood clotting process.
… Other serious sites of bleeding include the bowel, the brain and soft tissues. These types of bleeding can lead to … Hemophilia is inherited in an X-linked recessive pattern. A condition is … the hemophilia. Males are affected by X-linked recessive disorders much more frequently than females. A major …