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Glossary for Autosomal Genetic Diseases

  • Alpers Syndrome: A rare syndrome characterized by liver disease, seizures and progressive, episodic psychomotor retardation.
  • Autosomal Dominant Genetic Diseases: Any conditions that are related to any non-sex-determining chromosome
  • Autosomal Recessive Genetic Diseases: Any conditions that are related to any non-sex-determining chromosome
  • Autosomal Recessive Polycystic Kidney Disease: Severe form of PKD, a genetic kidney disease.
  • Autosomal dominant polycystic kidney disease: Genetic kidney disease causing kidney cysts.
  • Cystic Fibrosis: Cystic fibrosis is a hereditary disease affecting the exocrine (mucus) glands of the lungs, liver, pancreas, and intestines, causing progressive disability due to multisystem failure.
  • 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
  • Sickle Cell Anemia: Sickle cell anemia is an inherited blood disorder characterized by red blood cells which are crescent-shaped rather than the normal doughnut shape. These abnormally shaped red blood cells are unable to function normally and tend to undergo premature destruction which leads to anemia. If the genetic defect which causes the condition is inherited from both parents the condition can be quite severe whereas if it is inherited from only one parent, often there are no symptoms. The abnormally shaped red blood cells can cause problems when they clump together and block blood vessels.
  • Spinal Muscular Atrophy type I: Type of SMA, a genetic motor neuron disease affecting nerves and muscles.
  • Spinal Muscular Atrophy type II: Type of SMA, a genetic motor neuron disease affecting nerves and muscles.
  • Spinal Muscular Atrophy type III: Type of SMA, a genetic motor neuron disease affecting nerves and muscles.
  • Tay Sachs: Rare genetic disease leading to fatty deposits in the brain.
  • Tay Sachs Disease: A condition which is causes GM2 gangliosidosis
  • Thalassemia: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called alpha and beta. There are two subtypes of the disorder (alpha and beta) depending on what portion of the hemoglobin is abnormally synthesized. Each of these subtypes can be further classified depending on the number of thalassemia genes involved. A total of four genes is needed to make each ? protein chains and two genes are needed to make each ? chain. The main symptom is anemia, the severity of which can vary amongst patients depending on how many defective genes are involved.
  • Usher Syndrome: A rare inherited disorder characterized by sensorineural deafness and progressive vision loss.

 

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