Tag: genetics

  • HANE

    HANE Definition and Description of HANE HANE, or Hereditary Angioedema, is a genetic condition characterized by recurrent episodes of severe swelling (angioedema) that can affect various parts of the body, including the limbs, face, gastrointestinal tract, and respiratory system. This swelling is usually caused by a deficiency or dysfunction of the C1 inhibitor protein, leading…

  • Heart Health

    Heart Health Definition and Description of Heart Health Heart health refers to the overall state of the cardiovascular system, which includes the heart and blood vessels. It encompasses the prevention, diagnosis, and treatment of conditions that affect the heart’s ability to function effectively. Medical definitions often describe heart health in terms of its various metrics,…

  • Familial Emphysema

    Familial Emphysema Definition and Description of Familial Emphysema Familial Emphysema is a chronic lung condition characterized by the permanent enlargement of the air sacs within the lungs, known as alveoli. This disease results primarily from a deficiency of alpha-1 antitrypsin, a protein that protects the lungs from inflammation and damage. When levels of this protein…

  • Familial Primary Pulmonary Hypertension

    Familial Primary Pulmonary Hypertension Definition and Description of Familial Primary Pulmonary Hypertension Familial Primary Pulmonary Hypertension (FPPH) is a genetic condition characterized by elevated pulmonary arterial pressure due to unknown mechanisms. It specifically affects the blood vessels in the lungs, leading to increased resistance to blood flow. As a result, the heart has to work…

  • EDMD

    EDMD Definition and Description of EDMD EDMD, or Emery-Dreifuss Muscular Dystrophy, is a rare genetic disorder characterized by muscle weakness and wasting, particularly affecting the shoulder, upper arm, and lower leg muscles. It also impacts the heart, leading to potential cardiovascular issues. This condition typically manifests during childhood or early adulthood, with symptoms progressively worsening…

  • Cleft Lip

    Cleft Lip Definition and Description of Cleft Lip Cleft lip is a congenital condition characterized by an opening or gap in the upper lip, which can occur on one or both sides of the mouth. It results from the failure of the lip tissue to fully close during fetal development. Cleft lip can vary in…

  • Brittle Bone Disease

    Brittle Bone Disease Definition and Description of Brittle Bone Disease Brittle Bone Disease, also known as Osteogenesis Imperfecta (OI), is a genetic disorder characterized by fragile bones that break easily. This condition results from a defect in the production of collagen, a protein that provides structure and strength to bones. Individuals with this disorder may…

  • Breast Cancer and Your Genes

    Breast Cancer and Your Genes Definition and Description of Breast Cancer and Your Genes Breast cancer is a type of cancer that develops in the breast tissue, primarily from the cells lining the ducts or lobules. It is a complex disease influenced by various genetic factors. The connection between breast cancer and genetics has garnered…

  • Breast Cancer Risk Factors

    Breast Cancer Risk Factors Definition and Description of Breast Cancer Risk Factors Breast cancer risk factors are attributes, characteristics, or conditions that increase the likelihood of developing breast cancer. These factors can be divided into non-modifiable, such as age and family history, and modifiable factors, such as lifestyle choices including diet and exercise. Understanding these…

  • Biliary Atresia, Extrahepatic

    Biliary Atresia, Extrahepatic Definition and Description of Biliary Atresia, Extrahepatic Biliary Atresia, Extrahepatic is a rare but serious congenital condition that affects the bile ducts outside the liver. In this condition, the bile ducts become obstructed or destroyed, preventing bile from being transported from the liver to the small intestine. This leads to bile accumulation…