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Genetic Disease (cont.) Medical Author: Melissa Conrad Stöppler, MD Melissa Conrad Stöppler, MD Melissa Conrad Stöppler, MD Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology. View Full Profile Medical Editor: William C. Shiel Jr., MD, FACP, FACR William C. Shiel Jr., MD, FACP, FACR William C. Shiel Jr., MD, FACP, FACR Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology. View Full Profile In this Article * What is a genetic disease? * What are the different types of inheritance? * Single gene inheritance * Multifactorial inheritance * Chromosome abnormalities * Mitochondrial inheritance * What is the human genome? * Genetic Disease Glossary * Genetic Disease Index Multifactorial inheritance Multifactorial inheritance, also called complex or polygenic inheritance. Multifactorial inheritance disorders are caused by a combination of environmental factors and mutations in multiple genes. For example, different genes that influence breast cancer susceptibility have been found on chromosomes 6, 11, 13, 14, 15, 17, and 22. Some common chronic diseases are multifactorial disorders. Examples of multifactorial inheritance include: * heart disease, * high blood pressure, * Alzheimer's disease, * arthritis, * diabetes, * cancer, and * obesity. Multifactorial inheritance also is associated with heritable traits such as fingerprint patterns, height, eye color, and skin color. Chromosome abnormalities Chromosomes, distinct structures made up of DNA and protein, are located in the nucleus of each cell. Because chromosomes are the carriers of the genetic material, abnormalities in chromosome number or structure can result in disease. Abnormalities in chromosomes typically occur due to a problem with cell division. For example, Down syndrome or trisomy 21 is a common disorder that occurs when a person has three copies of chromosome 21. There are many other chromosome abnormalities including: * Turner syndrome (45,X), * Klinefelter syndrome (47, XXY), and * cri du chat syndrome, or the "cry of the cat" syndrome (46, XX or XY, 5p-). Diseases may also occur because of chromosomal translocation in which portions of two chromosomes are exchanged. Next: Mitochondrial inheritance * Previous * 1 * 2 * 3 * 4 * Next * Genetic Disease Index * Glossary Patient Discussions - Viewers share their comments Genetic Disease - Symptoms The MedicineNet physician editors ask: What were the symptoms of your genetic disease? Submit Your Comment Genetic Disease - Screening The MedicineNet physician editors ask: How do you manage your genetic disease? Submit Your Comment MedicineNet Doctors Suggested Reading on Genetic Disease by Our Doctors * Related Diseases & Conditions 75 articles o High Blood Pressure + High blood pressure, also known as hypertension, is a repeatedly elevated blood pressure exceeding 140 over 90 mmHg -- a systolic pressure above 140 with a diastolic pressure above 90. There are two causes of high blood pressure, primary and secondary. Primary high blood pressure is much more common that secondary and its basic causes or underlying defects are not always known. It is known that a diet high in salt increases the risk for high blood pressure, as well as high cholesterol. Genetic factors are also a primary cause. Secondary high blood pressure is generally caused by another condition such as renal hypertension, tumors, and other conditions. Treatment for high blood pressure is generally lifestyle changes and if necessary, diet. More o Diabetes (Type 1 and Type 2) + Diabetes mellitus is a chronic condition characterized by high levels of sugar (glucose) in the blood. The two types of diabetes are referred to as type 1 (insulin dependent) and type 2 (non-insulin dependent). Symptoms of diabetes include increased urine output, thirst, hunger, and fatigue. Treatment of diabetes depends on the type. More o Anemia + Anemia is the condition of having less than the normal number of red blood cells or less than the normal quantity of hemoglobin in the blood. The oxygen-carrying capacity of the blood is, therefore, decreased. More o Deep Vein Thrombosis (DVT) + Deep vein thrombosis (DVT) is a blood clot in a vein located deep in the muscles of the legs, thighs, pelvis (lower torso), or arms. The most common symptoms of a deep vein thrombosis are swelling and pain in the leg that has the blood clot. A DVT is difficult to diagnose without specific tests in which the deep vein system can be examined. More o Breast Cancer + Breast cancer is the most common cancer in women and the second most common cause of cancer death in women in the U.S. Symptoms include a lump in the breast or underarm area, nipple pain, change in breast size or shape, an inverted nipple, nipple discharge, and breast skin changes. Treatment may involve chemotherapy, radiation therapy, biological therapy, hormone therapy, or surgery. More o Cholesterol + Cholesterol is naturally produced by the body, and is a building block for cell membranes and hormones. Low-density lipoprotein (LDL) cholesterol is the "bad" cholesterol, conversely, high-density lipoprotein (HDL) cholesterol is the "good" cholesterol. High cholesterol treatment includes lifestyle changes (diet and exercise), and medications such as statins, bile acid resins, and fibric acid derivatives. More o Depression + Depression is an illness that involves the body, mood, and thoughts and affects the way a person eats and sleeps, the way one feels about oneself, and the way one thinks about things. The principal types of depression are major depression, dysthymia, and bipolar disease (also called manic-depressive disease). More o Atopic Dermatitis + Eczema is a general term for many types dermatitis (skin inflammation). Atopic dermatitis is the most common of the many types of eczema. Other types of eczema include: contact eczema, allergic contact eczema, seborrheic eczema, nummular eczema, stasis dermatitis, and. dyshidrotic eczema. More o Miscarriage + A miscarriage is any pregnancy that ends spontaneously before the fetus can survive. Miscarriage usually occurs before the 13th week of pregnancy. The cause of a miscarriage cannot always be determined. The most common causes of a miscarriage in the first trimester are collagen vascular disease (lupus), hormonal problems, diabetes, chromosomal abnormalities, and congenital abnormalities of the uterus. More o Parkinson's Disease + Parkinson's disease is a slowly progressive neurologic disease characterized by a fixed inexpressive face, a tremor at rest, slowing of voluntary movements, a gait with short accelerating steps, peculiar posture and muscle weakness, caused by degeneration of an area of the brain called the basal ganglia, and by low production of the neurotransmitter dopamine. Most patients are over 50, but at least 10 percent are under 40. More o Allergy + An allergy refers to a misguided reaction by our immune system in response to bodily contact with certain foreign substances. When these allergens come in contact with the body, it causes the immune system to develop an allergic reaction in people who are allergic to it. It is estimated that 50 million North Americans are affected by allergic conditions. The parts of the body that are prone to react to allergies include the eyes, nose, lungs, skin, and stomach. Common allergic disorders include hay fever, asthma, allergic eyes, allergic eczema, hives, and allergic shock. More o Bipolar Disorder + Bipolar disorder (or manic depression) is a mental illness characterized by depression, mania, and severe mood swings. Treatment may incorporate mood stabilizer medications, antidepressants, and psychotherapy. More o Down Syndrome + Down syndrome is a chromosomal disorder that results in the presence of an additional third chromosome 21, also referred to as trisomy 21. Most individuals with Down syndrome have widely recognizable physical characteristics. The severity of Down syndrome ranges from mild to severe. Diagnostic testing for Down syndrome include amniocentesis, chorionic villus sampling, and percutaneous umbilical cord sampling. The most common risk factor for Down syndrome is a woman's age. More o Pernicious Anemia + Pernicious anemia is a blood disorder in which the body does not make enough red blood cells due to a lack of vitamin B12 in the blood. Pernicious anemia can develop from a lack of a protein that helps the body absorb vitamin B12, not getting enough B12 in the diet, and certain intestinal conditions that interfere with the absorption of vitamin B12 such as Crohn's disease, celiac sprue, or ulcerative colitis. There is no cure for pernicious anemia, thus treatment is life-long. More o Hydrocephalus + Hydrocephalus is an abnormal buildup of cerebrospinal fluid (CSF) in the ventricles of the brain. The fluid is often under increased pressure and can compress and damage the brain. Symptoms of hydrocephalus vary with age, progression of the disease, and individual tolerance to the condition. Hydrocephalus is most often treated by surgery in which a shunt system is inserted. More o Huntington's Disease + Huntington's disease is the result of degeneration of neurons in areas of the brain. Huntington's disease is an inherited disorder. Early symptoms include mood swings, apathy, depression, and anger uncharacteristic of the individual. Judgement, memory, and other cognitive functions may become impaired. Presymptomatic testing is available for individuals who have a family history of Huntington's disease. Treatment includes medication and therapy for symptoms. More o Marfan Syndrome + Marfan syndrome is hereditary condition affecting connective tissue. A person with Marfan syndrome may exhibit the following symptoms and characteristics: dislocation of one or both lenses of the eye; a protruding or indented breastbone; scoliosis; flat feet; aortic dilatation; dural ectasia; stretch marks; hernia; and lung collapse. Though there is no cure for Marfan syndrome, there are treatments that can minimize and sometimes prevent some complications. More o Sickle Cell Disease (Sickle Cell Anemia) + Sickle cell anemia (sickle cell disease), a blood disease which shortens life expectancy, is cause by an inherited abnormal hemoglobin. Symptoms may include bacterial infections, painful swelling of the hands and feet, fever, leg ulcers, fatigue, anemia, eye damage, and lung and heart injury. Treatment for sickle cell anemia aims to manage and prevent the worst manifestations of the disease and focuses on therapies that block red blood cells from stacking together, which can lead to tissue and organ damage and pain. More o Cystic Fibrosis + Cystic fibrosis is a disease of the mucus and sweat glands. Cystic fibrosis is an inherited disease. The outcome of the disease leaves the body malnourished, bulky and fouls smelling stools, vitamin insufficiency, gas, painful or swollen abdomen, infertility, susceptible to heat emergencies, and respiratory failure. There is no cure for cystic fibrosis, treatment of symptoms is used to manage the disease. More o Learning Disabilities + Learning disabilities can cause an individual to have trouble learning and using skills such as reading, listening, writing, reading, speaking, reasoning, and performing mathematics. There is no cure for learning disabilities. Parents and teachers working together to properly diagnose learning disabilities can properly plan a course of education. For some, medication may be appropriate as complimentary treatment. More o Fragile X Syndrome + Fragile X syndrome is the most common inherited form of mental retardation. It's caused by a mutation on the X chromosome. People with Fragile X syndrome suffer from physical, social, emotional, speech, language, sensory, intelligence, and learning impairments. There is no definitive treatment for Fragile X, though there are ways to minimize the symptoms. More o Connective Tissue Disease + Connective tissue disease is when the body's connective tissues come under attack, possibly becoming injured by inflammation. Inherited connective tissue diseases include Marfan syndrome and Ehlers-Danlos syndrome. Systemic lupus erythematosus, rheumatoid arthritis, scleroderma, polymositis, and dermatomyositis are examples of connective tissue diseases that have no known cause. More o Tourette Syndrome + Tourette syndrome is disorder, which symptoms include involuntary facial tics, motor tics, and vocal tics. The cause of Tourette syndrome is not known. ADHD is associated with Tourette syndrome. Treatment includes medication, psychotherapy, and in severe cases surgery. More o Cerebral Palsy + Cerebral palsy (CP) is an abnormality of motor function and postural tone acquired at an early age (even before birth). Cerebral palsy is generally caused by brain trauma. Types of cerebral palsy include: spastic, choreoathetoid, and hypotonic. There is no cure for cerebral palsy, and treatment is generally managing the symptoms of the condition. More o Ehlers-Danlos Syndrome + Ehlers-Danlos syndromes are genetic disorders that include symptoms such as loose joints, tissue weakness, easy bruising, and skin that stretches easily. There are seven types of Ehlers-Danlos syndromes: Classical type, Hypermobility type, Vascular type, Kyphoscoliosis type, Arthrochalsia type, Dermatosparaxis type, and Tenascin-X Deficient type. Treatment for Ehlers-Danlos syndromes depends on which symptoms are present. More o Wolff-Parkinson-White Syndrome + Wolff-Parkinson-White syndrome is a condition in which abnormal electrical pathways in the heart cause arrhythmias. Symptoms of Wolff-Parkinson-White syndrome include tachycardia, dizziness, palpitations, fainting, and shortness of breath. Wolff-Parkinson-White syndrome is a common cause of paroxysmal supraventricular tachycardia. Wolff-Parkinson-White syndrome is caused by mutations in the PRKAG2 gene. More o Turner Syndrome + Turner syndrome is an inherited chromosomal condition affecting women. Women with Turner syndrome do not have ovarian function, and features of the syndrome include webbed neck, lymphedema of the hands and feet, heart defects, kidney problems, and skeletal abnormalities. The X chromosome is related to Turner syndrome. Treatment focuses on the symptoms of the syndrome. More o Beta Thalassemia + Beta Thalassemia is the most familiar type of thalassemia. Thalassemia is not just one disease but rather a complex series of genetic (inherited) disorders all of which involve underproduction of hemoglobin. More o Polycystic Kidney Disease + Polycystic kidney disease (PKD) is characterized by numerous cysts in the kidneys. Polycystic kidney disease is a genetic disorder. There are two major inherited forms of PKD, autosomal dominant PKD, and autosomal recessive PKD. Symptoms include headaches, urinary tract infections, blood in the urine, liver and pancreatic cysts, abnormal heart valves, high blood pressure, kidney stones, aneurysms, and diverticulosis. Diagnosis of PKD is generally with ultrasound, CT or MRI scan. There is no cure for PKD, so treatment of symptoms is usually the general protocol. More o See All Related Diseases & Conditions » * Medications 2 articles * Procedures & Tests 3 articles * Pictures, Images & Illustrations 5 articles * Doctor's & Expert's Views 5 articles * Health News 9 articles * Health Features 6 articles Privacy Policy Women's Health Find out what women really need. 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