WebAn inherited genetic disease that damages kidneys. Alport syndrome is caused by changes (mutations) in collagen protein genes. Collagen is an important protein that is needed to maintain normal function in the kidneys. ... An autosomal dominant inherited genetic disorder, which occurs when a person receives an abnormal copy of the TSC gene from ... WebBENTA Disease. BENTA disease is a rare genetic disorder of the immune system caused by mutations in the gene CARD11. The disease is characterized by high levels of certain immune cells starting in infancy, an enlarged spleen, enlarged lymph nodes, immunodeficiency, and an elevated risk of lymphoma, a type of cancer Read more about …
Symptoms of Maple Syrup Urine Disease: Life Expectancy, Causes
WebTop Genetic Disorders Conditions and Diseases. Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) Brugada Syndrome. Charcot-Marie-Tooth Disease. Cleft Lip and Palate. Cleidocranial Dysplasia (CCD) Cystic Fibrosis. Familial Adenomatous Polyposis. Hirschsprungs Disease. WebMay 18, 2024 · A genetic disorder is a disease caused in whole or in part by a change in the DNA sequence away from the normal sequence. Genetic disorders can be caused by a mutation in one gene (monogenic disorder), by mutations in multiple genes (multifactorial inheritance disorder), by a combination of gene mutations and environmental factors, or … medics pharmectuals kollupitiya
Neurodegenerative Diseases MedlinePlus
WebMuscular dystrophy is a group of inherited diseases characterized by weakness and wasting away of muscle tissue, with or without the breakdown of nerve tissue. There are 9 types of muscular dystrophy, … WebCardiovascular Disorders. Congenital Heart Defects. High Cholesterol. Hypertension. Hypoplastic Left Heart Syndrome. Tetralogy of Fallot. Truncus Arteriosus. Ventricular Septal Defect. WebPrecision Medicine. This course will provide you with the key knowledge and tools to understand the fundamentals and practical implications of precision medicine, its opportunities and challenges. It will address precision-medicine era diagnostics, treatment selection, genetic counseling, public health interventions, and biomedical research. medics pants