Health problem caused by one or more abnormalities in the genome
For a non-technical introduction to the topic, see Introduction to genetics. For a list of genetic disorders, see List of genetic disorders.
Medical condition
Genetic disorder
A boy with Down syndrome, one of the most common genetic disorders
Specialty
Medical genetics
Diagram featuring examples of a disease located on each chromosome
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome.[1][2] The mutation responsible can occur spontaneously before embryonic development (a de novo mutation), or it can be inherited from two parents who are carriers of a faulty gene (autosomal recessive inheritance) or from a parent with the disorder (autosomal dominant inheritance). When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA (due to their size).[3]
There are well over 6,000 known genetic disorders,[4] and new genetic disorders are constantly being described in medical literature.[5] More than 600 genetic disorders are treatable.[6] Around 1 in 50 people are affected by a known single-gene disorder, while around 1 in 263 are affected by a chromosomal disorder.[7] Around 65% of people have some kind of health problem as a result of congenital genetic mutations.[7] Due to the significantly large number of genetic disorders, approximately 1 in 21 people are affected by a genetic disorder classified as "rare" (usually defined as affecting less than 1 in 2,000 people). Most genetic disorders are rare in themselves.[5][8]
Genetic disorders are present before birth, and some genetic disorders produce birth defects, but birth defects can also be developmental rather than hereditary. The opposite of a hereditary disease is an acquired disease. Most cancers, although they involve genetic mutations to a small proportion of cells in the body, are acquired diseases. Some cancer syndromes, however, such as BRCA mutations, are hereditary genetic disorders.[9]
^"Genetic Disorders". Learn.Genetics. University of Utah. Archived from the original on 2022-07-15.
^Lvovs D, Favorova OO, Favorov AV (July 2012). "A Polygenic Approach to the Study of Polygenic Diseases". Acta Naturae. 4 (3): 59–71. doi:10.32607/20758251-2012-4-3-59-71. PMC 3491892. PMID 23150804.
^"What are the different ways in which a genetic condition can be inherited?". Genetics Home Reference. Archived from the original on 2020-09-27. Retrieved 2020-01-14.
^"OMIM Gene Map Statistics". www.omim.org. Archived from the original on 2020-01-28. Retrieved 2020-01-14.
^ ab"Orphanet: About rare diseases". orpha.net. Archived from the original on 2019-12-17. Retrieved 2020-01-14.
^Bick D, Bick SL, Dimmock DP, Fowler TA, Caulfield MJ, Scott RH (March 2021). "An online compendium of treatable genetic disorders". American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 187 (1): 48–54. doi:10.1002/ajmg.c.31874. PMC 7986124. PMID 33350578.
^ abKumar P, Radhakrishnan J, Chowdhary MA, Giampietro PF (August 2001). "Prevalence and patterns of presentation of genetic disorders in a pediatric emergency department". Mayo Clinic Proceedings. 76 (8): 777–783. doi:10.4065/76.8.777. PMID 11499815.
^Jackson M, Marks L, May GH, Wilson JB (December 2018). "The genetic basis of disease". Essays in Biochemistry. 62 (5): 643–723. doi:10.1042/EBC20170053. PMC 6279436. PMID 30509934. (calculated from "1 in 17" rare disorders and "80%" of rare disorders being genetic)
^Hunt JD. "An Introduction to Cancer". Genetics and Louisiana Families. lsuhsc.edu. Archived from the original on 16 January 2020.
A geneticdisorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or...
The following is a list of geneticdisorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene"...
protein output. In a medical setting, genetic testing can be used to diagnose or rule out suspected geneticdisorders, predict risks for specific conditions...
prominent example of a genetically determined neurodevelopmental disorder is Trisomy 21, also known as Down syndrome. This disorder usually results from...
Genetic counseling is the process of investigating individuals and families affected by or at risk of geneticdisorders to help them understand and adapt...
eliminating geneticdisorders, it is important to consider that when certain individuals are prevented from breeding, alleles and therefore genetic diversity...
Down syndrome or Down's syndrome, also known as trisomy 21, is a geneticdisorder caused by the presence of all or part of a third copy of chromosome 21...
for genetic counseling in the health care system. The offspring of consanguineous relationships are at greater risk of certain geneticdisorders. Autosomal...
organisms Genetic, used as an adjective, refers to genes Geneticdisorder, any disorder caused by a genetic mutation, whether inherited or de novo Genetic mutation...
Pseudoautosomal region XY sex-determination system Geneticdisorder Griffiths, Anthony J. F. (1999). An Introduction to genetic analysis. New York: W.H. Freeman....
syndromic autism. ASD is associated with several geneticdisorders, perhaps due to an overlap in genetic causes. Distinguishing between ASDs and other diagnoses...
Those with geneticdisorders such as osteochondrodysplasia can sometimes be treated with surgery or physical therapy. Hormone disorders can also be treated...
trauma, adverse childhood experiences, genetic predisposition, and personality traits. Correlations of mental disorders with drug use include almost all psychoactive...
Mitochondrial disease is a group of disorders caused by mitochondrial dysfunction. Mitochondria are the organelles that generate energy for the cell and...
are closely related genetically. By analogy, the term is used in human reproduction, but more commonly refers to the geneticdisorders and other consequences...
Congenital disorder or congenital disease A congenital disorder is one that is present at birth. It is often a genetic disease or disorder and can be...
30 to 50% of these cases. About a quarter of cases are caused by a geneticdisorder, and about 5% of cases are inherited. Cases of unknown cause affect...
implicating genetic, neurological, and psychosocial conditions in its development. A genetic predisposition is evident, with the disorder being significantly...
deletion disorder. Duplications: A portion of the chromosome has been duplicated, resulting in extra genetic material. Known human disorders include Charcot–Marie–Tooth...
commonly associated with bipolar disorder. While the causes of this mood disorder are not clearly understood, both genetic and environmental factors are...
Rett syndrome (RTT) is a geneticdisorder that typically becomes apparent after 6–18 months of age and almost exclusively in females. Symptoms include...
Adermatoglyphia is an extremely rare geneticdisorder that prevents the development of fingerprints. Five extended families worldwide are known to be affected...
are genetically more diverse, and therefore no geneticdisorders are more common in these groups as a whole; instead, they tend to have the genetic diseases...
epiphyseal dysplasia (MED), also known as Fairbank's disease, is a rare geneticdisorder (dominant form: 1 in 10,000 births) that affects the growing ends of...
Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterised by executive dysfunction occasioning symptoms of inattention...
risk for major depressive disorder can be explained by genetic factors. Like most psychiatric disorders, major depressive disorder is likely influenced by...
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