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Genetic disorder; Diagram featuring examples of a disease located on each chromosome ... A genetic disorder is a health problem caused by ... Some autosomal recessive ...
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
Pages in category "Autosomal recessive disorders" The following 200 pages are in this category, out of approximately 441 total. This list may not reflect recent changes .
Autosomal dominant Charcot–Marie–Tooth disease type 2 with giant axons; Autosomal dominant GTP cyclohydrolase I deficiency; Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome; Autosomal dominant nocturnal frontal lobe epilepsy; Autosomal dominant partial epilepsy with auditory features
Autosomal genetic disorders can arise due to a number of causes, some of the most common being nondisjunction in parental germ cells or Mendelian inheritance of deleterious alleles from parents. Autosomal genetic disorders which exhibit Mendelian inheritance can be inherited either in an autosomal dominant or recessive fashion. [ 7 ]
For example, people of African American ethnicity have a much higher likelihood of being a carrier for the autosomal recessive disorder called sickle cell anemia. [3] People of one ethnicity in particular, Ashkenazi Jewish, have a tendency to be carriers for a wide variety of recessive genetic disorders. There are also several recessive ...
Hereditary breast-ovarian cancer syndrome is an autosomal dominant genetic disorder caused by genetic mutations of the BRCA1 and BRCA2 genes. In women this disorder primarily increases the risk of breast and ovarian cancer , but also increases the risk of fallopian tube carcinoma and papillary serous carcinoma of the peritoneum.
Heterozygous FH is a common genetic disorder, inherited in an autosomal dominant pattern, occurring in 1:250 people in most countries; [3] homozygous FH is much rarer, occurring in 1 in 300,000 people. [citation needed] Heterozygous FH is normally treated with statins, bile acid sequestrants, or other lipid-lowering agents that lower ...