Genetic Conditions

• Common Genetic Conditions
• Common conditions that may have a genetic component
• Factors influencing Genetic risk

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
• 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

   

Common conditions that may have a genetic component

• Cerebral palsy
• Cleft lip and/or palate
• Congenital heart disease
• Coronary artery disease
• Diabetes mellitus
• Epilepsy
• Learning disabilities
• Manic depression
• Neural tube defects: Anencephaly and spina bifida
• Schizophrenia

   

Factors influencing Genetic risk

• Cousin marriage
• Maternal age effect
• Recurrent miscarriages

Last updated: 5 July 2011

Learning Genetics

• Learning - Home
• Understanding genetics
• Patterns of inheritance
• Family history
• Genetic testing and screening
• Ethical, legal and social implications of genetics
• Communicating genetic information
• 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
• Genetics Clinical Services
• Glossary