Genetic Disorders

URL of this page: http://www.nlm.nih.gov/medlineplus/geneticdisorders.html

A genetic disorder is a disease caused by a different form of a gene called a variation, or an alteration of a gene called a mutation. Many diseases have a genetic aspect. Some, including many cancers, are caused by a mutation in a gene or group of genes in a person's cells. These mutations can occur randomly or because of an environmental exposure such as cigarette smoke.

Other genetic disorders are inherited. A mutated gene is passed down through a family and each generation of children can inherit the gene that causes the disease. Still other genetic disorders are due to problems with the number of packages of genes called chromosomes. In Down syndrome, for example, there is an extra copy of chromosome 21.

If you know that you have a genetic problem in your family, you can have genetic testing to see if your baby could be affected.

NIH: National Human Genome Research Institute

MEDICAL ENCYCLOPEDIA
Aarskog syndrome

Alström syndrome

Basal cell nevus syndrome

Beriberi

Cystinuria

Genetics

Hereditary elliptocytosis

Hereditary ovalocytosis

Karyotyping

Lipase test

Mosaicism Multiple lentigines syndrome Noonan syndrome Peutz-Jeghers syndrome Progeria Williams syndrome

Related Topics
Birth Defects

Brain Malformations

Celiac Disease

Cleft Lip and Palate

Cystic Fibrosis

Down Syndrome

Dwarfism

Fragile X Syndrome

Genetic Brain Disorders

Genetic Counseling

Genetic Testing

Hemochromatosis

Leukodystrophies

Osteogenesis Imperfecta

Prader-Willi Syndrome

Rare Diseases

Sickle Cell Anemia

Genetics/Birth Defects

National Institutes of Health
The primary NIH organization for research on Genetic Disorders is the National Institute of Child Health and Human Development