Genetic Disorders List

Genetic disorders can be caused by a mutation in one gene monogenic disorder by mutations in multiple genes multifactorial inheritance disorder by a combination of gene mutations and environmental factors or by damage to chromosomes changes in the number or structure of entire chromosomes the.

Genetic disorders list. A genetic disorder is a disease caused in whole or in part by a change in the dna sequence away from the normal sequence. These include many cancers as well as some forms of neurofibromatosis. People with von willebrand disease have trouble controlling their bleeding because a blood clotting factor is either absent low or defective. We can also test for some genetic diseases such as cystic fibrosis down syndrome fragile x syndrome inherited thrombophilias factor v leiden factor ii bloom syndrome canavan disease cystic fibrosis familial dysautonomia fanconi anemia gaucher disease mucolipidosis type iv niemann pick disease tay sachs disease klinefelter syndrome open neural tube defects sickle cell disease thalassemia some trisomic disorders and turner syndrome.

Most common disorders edit duchenne muscular dystrophy. Chronic progressive external ophthalmoplegia cpeo mitochondrial myopathy encephalopathy lactic acidosis and stroke like episodes melas unfortunately the list of genetic diseases is an unending one and new additions occur frequently thereby presenting a new challenge to researchers and the medical community. 7 common multifactorial genetic inheritance disorders heart disease high blood pressure alzheimer s disease arthritis diabetes cancer and obesity. Read more about turner syndrome.

Cystic fibrosis sickle cell anemia marfan syndrome duchenne muscular dystrophy huntington disease polycystic kidney disease types 1 and 2 tay sachs disease phenylketonuria maple syrup urine disease neurofibromatosis type 1 alpha 1 antitrypsin. Increased risk for tumors. Pheochromocytoma wilmstumor rhabdomyosarcoma leukemias. Full genetic disorders list edit references edit further reading edit.