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Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) … the nervous system such as eye problems, seizures and brain damage. In Type 2 Gaucher disease, severe medical … increased risk of developing Parkinson disease and related disorders. … The diagnosis of Gaucher disease is based on …
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. … Genetics professionals are health … 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 …
Genetic Disorders
Factor V Leiden thrombophilia is an inherited disorder of blood clotting.
… Factor V Leiden thrombophilia is an inherited disorder of blood clotting. … Factor V Leiden is … venous thrombosis in unusual sites in the body such as the brain or the liver. Having a DVT or PE during or right after … is an inherited disorder of blood clotting. … Genetic Disorders …
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 … the blood. … Alpha-1 antitrypsin deficiency (AATD) is an inherited condition that causes low levels of, or no, alpha-1 … of, or no, alpha-1 antitrypsin in the blood. … Genetic Disorders …
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 … ganglion cells can provide a visual signal to the brain. The visual scene captured by a camera is transmitted … retina (the light-sensitive part of the eye). … Genetic Disorders …
Genetic Disorders
Duane syndrome is a rare, congenital eye movement disorder.
… is a rare, congenital eye movement disorder. … Genetic Disorders …
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 … social adjustment. … Most cases of achondroplasia are not inherited. When achondroplasia is inherited, it is inherited … of disproportionate short stature. … Achondroplasia, Bone Disorders, FGFR3 Gene, Gene Mutation … Achondroplasia is a …
Genetic Disorders
Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30.
… is the treatment for Crohn's disease? … Is Crohn's disease inherited? … About Crohn's Disease … Crohn's disease is a … diagnosed in people between the ages of 20 - 30. … Genetic Disorders …
Genetic Disorders
Familial hypercholesterolemia is an inherited condition causing increased low density lipoprotein cholesterol at birth and heart attacks at an early age.
… Familial hypercholesterolemia is an inherited condition that causes high levels of low density … at an early age. … Familial hypercholesterolemia is an inherited condition that causes high levels of LDL (low … Association - Cholesterol National Organization for Rare Disorders Online Mendelian Inheritance in Man eMedicine …