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Genetic Disorders
Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene.
… Fragile X syndrome is the most common form of inherited intellectual disability in males and is also a significant cause of intellectual disability in females. It affects about 1 in … occurs in all racial and ethnic groups. Nearly all cases of fragile X syndrome are caused by an alteration (mutation) …
Genetic Disorders
Dercum disease is a rare condition that is characterized by multiple, painful fatty tumors that occur chiefly in post-menopausal, obese women of middle age.
… tumors that occur chiefly in post-menopausal, obese women of middle age. … tumors) that occur chiefly in post-menopausal, obese women of middle age. However, although it is 20 times more common in women, 16 percent of the reported cases are males and it can also occur in …
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
… condition that causes a person's body to store too much of the mineral copper. Over time, the extra copper can lead … Wilson disease causes a person's body to store too much of the mineral copper. Many foods contain copper, and it is important for people to have a small amount of copper in the body. However, high levels of copper can …
Genetic Disorders
Familial hypercholesterolemia is an inherited condition causing increased low density lipoprotein cholesterol at birth and heart attacks at an early age.
… is an inherited condition that causes high levels of low density lipoprotein (LDL) cholesterol beginning at … is an inherited condition that causes high levels of LDL (low density lipoprotein) cholesterol beginning at … is a fat-like substance that is found in the cells of the body. Cholesterol is also found in some foods. The …
Genetic Disorders
Klinefelter syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is infertility.
… syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is … syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is … infertility. Humans have 46 chromosomes, which contain all of a person's genes and DNA. Two of these chromosomes, the …
News Release
Mothers may be able to reduce guilt over their children's inherited obesity guilt by being more careful in the future about their children's diet.
… weight loss with their overweight patients - for fear of alienating the patients or being ignored - two recent … that doctor-patient talks about the genomic underpinnings of obesity can pay off. … There can be a downside, of course. Healthcare providers who discuss genomics and …
Genetic Disorders
Severe Combined Immunodeficiency is a severe, genetic condition of the immune system.
… Combined Immunodeficiency is a severe, genetic condition of the immune system. … without a working immune system. Caused by defects in any of several possible genes, SCID makes those affected highly … bacteria and fungi. Because David's brother had died of the disease, doctors immediately placed him into a plastic …
Genetic Disorders
Poland anomaly is an underdevelopment or absence of the chest muscle on one side of the body and webbing of the fingers of the hand on the same side.
… Poland anomaly is an underdevelopment or absence of the chest muscle on one side of the body and webbing of the fingers of the hand on the same side. … (PA) is described as an underdevelopment or absence of the chest muscle (pectoralis) on one side of the body and …
Genetic Disorders
Alpha-1 antitrypsin deficiency is an inherited condition that causes low levels of, or no, alpha-1 antitrypsin in the blood.
… is an inherited condition that causes low levels of, or no, alpha-1 antitrypsin in the blood. … (AATD) is an inherited condition that causes low levels of, or no, alpha-1 antitrypsin (AAT) in the blood. AATD … all ethnic groups; however, it occurs most often in whites of European ancestry. Alpha-1 antitrypsin (AAT) is a protein …
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
… the HD gene on chromosome 4. The gene codes for production of a protein called "huntingtin," whose function is still unknown. But the defective version of the gene has excessive repeats of a three-base sequence, "CAG." In the normal huntingtin …