Polycystic Kidney Disease

(see separate entries under adult polycystic kidney disease and autosomal recessive polycystic kidney disease.

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• Understanding genetics
• Patterns of inheritance
• Family history
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• GP Associates in Training - Genetics in Primary Care
• Common genetic conditions

  • Achondroplasia

  • Adult polycystic kidney disease

  • Albinism (oculocutaneous)

  • Alpha-thalassaemia

  • Autosomal recessive polycystic kidney disease

  • Becker muscular dystrophy

  • Beta-thalassaemia

  • Charcot-Marie-Tooth disease

  • Congenital adrenal hyperplasia (21-hydroxylase deficiency)

  • Congenital sensorineural deafness

  • Cystic fibrosis

  • Down syndrome

  • Duchenne muscular dystrophy

  • Edwards Syndrome

  • Familial Adenomatous Polyposis

  • Familial Hypercholesterolaemia (FH)

  • Fragile X Syndrome

  • Friedreich Ataxia

  • Glucose-6-Phosphate Dehydrogenase Deficiency

  • Haemophilia A

  • Hereditary Haemochromatosis

  • Huntington Disease

  • Hypertrophic Cardiomyopathy

  • Inborn Errors of Metabolism

  • Klinefelter Syndrome

  • Marfan Syndrome

  • Mitochondrial Disorders

  • Muscular Dystrophy

  • Myotonic Dystrophy

  • Neurofibromatosis Type 1

  • Osteogenesis Imperfecta

  • Patau Syndrome

  • Phenylketonuria

  • Polycystic Kidney Disease

  • Retinitis Pigmentosa

  • Rett Syndrome

  • Sickle Cell Disease

  • Spinal Muscular Atrophy

  • Tay-Sachs Disease

  • Tourette Syndrome

  • Triple X Syndrome

  • Tuberous Sclerosis Complex

  • Turner Syndrome

  • Wilson Disease

  • 47, XYY

  • Cerebral Palsy

  • Cleft Lip and Palate

  • Congenital Heart Disease

  • Coronary Artery Disease

  • Diabetes

  • Epilepsy

  • Learning Disabilities

  • Manic Depression

  • Neural Tube Defects: Anencephaly and Spina Bifida

  • Schizophrenia

  • Cousin Marriage

  • Maternal Age Effect

  • Recurrent Miscarriages
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