Genetic Disorders Directory
Genetic disorders are diseases that are caused by abnormal DNA or mutations. These abnomalities can be small changes to a single gene or be much more complex and affect a chromosome or an entire group of chromosomes. Genetic disorders cause a long list of diseases from cystic fibrosis to being more suseptable to various types of cancers. Find out more about various genetic disorders with articles, news and more.
Lipodystrophy is a problem with the way your body uses and stores fat. Inherited types affect babies and kids. It changes the way they look and causes serious complications.
ImportantIt is possible that the main title of the report Mandibuloacral Dysplasia is not the name you expected.
Glucose Transporter Type 1 Deficiency Syndrome
Summary Glucose transporter type 1 (Glut1) deficiency syndrome is a rare genetic metabolic disorder characterized by deficiency of a protein that is required for glucose (a simple sugar) to cross the blood-brain barrier. The most common symptom is seizures (epilepsy),which usually begin within the first few months of life. However,the symptoms and severity of Glut1 deficiency syndrome can ...
Ferroportin disease,also known as hemochromatosis type 4,is a rare genetic disorder characterized by the abnormal accumulation of iron in the body. Ferroportin disease is caused by mutations of the SLC40A1 gene. The specific symptoms associated with ferroportin disease can vary greatly from one person to another. Some individuals may only have elevated levels of ferritin,a protein that ...
Are You Destined to Get Your Parents' Illnesses?
With conditions like cancer, Alzheimer's, diabetes, and heart disease, your genes aren't always destiny. You can likely overcome your heredity and stay disease-free by making smarter health decisions.
Crusade for a Cure
Battling a rare genetic disorder called pseudoxanthoma elasticum, or PXE.
Know Your Genetic Risk
Knowing your family's health history can help you avoid health problems yourself.
Battling Nature (Part 1): Genetic Possibilities
Learn more about the field of genetics and the future possibility of targeting certain genes to slow the aging process.
Slideshows & Images
X-Ray and MRI of Legg-Calve-Perthes Disease
Courtesy of Paul Traughber, M.D., Boise, Idaho.Figure 1 is an X - ray of a child's normal hipbone and a broken (fractured) hipbone from poor blood flow because of Legg - Calve - Perthes disease (LCPD). Figure 2 is an MRI of a child's normal hipbone with fat in the growth center and an abnormal hipbone where the fat has been lost because of LCPD. ...