Mendelian disease

Mendelian disease

A disease caused by a single mutated gene. Also known as a ‘single gene disorder’. Although some 5,000 such diseases are known, nearly all of them are comparatively rate. Some of the more common are CYSTIC FIBROSIS, SICKLE CELL DISEASE, THALASSAEMIA, HAEMOPHILIA, MARFAN'S SYNDROME, PHENYLKETONURIA, one form of RETINITIS PIGMENTOSA, DUCHENNE'S MUSCULAR ATROPHY, HUNTINGTON'S DISEASE and adult POLYCYSTIC DISEASE.