Glossary for Autosomal Dominant Genetic Diseases

• Autosomal Genetic Diseases: Any conditions that are related to any non-sex-determining chromosome
• Autosomal dominant polycystic kidney disease: Genetic kidney disease causing kidney cysts.
• Dominant Genetic Diseases: Genetic disease where the mutated gene is dominant
• Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
• Hemochromatosis: Excess of iron leading to problems with joints, liver, heart and pancreas.
• Huntington's Disease: Inherited disease causing progressive mental deterioration.
• MODY diabetes: Maturity Onset Diabetes of the Young affects approximately one or two per cent of people who have diabetes, and may often go unrecognised in its early stages. It is a form of diabetes that develops before the patient reaches 25. It also runs in families, and can pass from one generation to the next. MODY does not always require insulin treatment.
• Machado-Joseph Disease: Rare genetic muscle disease causing muscle weakness.
• Marfan syndrome: A genetic connective tissue disorder involving a defect of chromosome 15q21.1 which affects the production of the fibrillin needed to make connective tissue.
• Neurofibromatosis: Nerve disorders often leading to tumors on nerves.
• Otosclerosis: Genetic ear bone disorder
• Uncombable hair syndrome: A syndrome which is characterised by an abnormality in the structure of hair resulting in it being uncombable

 » Next page: Introduction to Genetic disorders (Professional Guide to Diseases (Eighth Edition))

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