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Genetic disorder — Wikipedia (en)

Source: Wikipedia (en)
Original: https://en.wikipedia.org/wiki/Genetic_disorder
License (as archived): CC-BY-SA-4.0
Archived: 2026-10-07T17:47:27.963Z
SHA-256 of the archived text: 74f12dcf5b06b4075567aca86099167602f425a4a94944acb49f183deaf0f2e6
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Genetic disorder — Wikipedia (en) — Wikipedia (en), https://en.wikipedia.org/wiki/Genetic_disorder (CC-BY-SA-4.0); archived copy: https://metraipolis.com/documento/dc_715f3a368df2 (Metraipolis archive dc_715f3a368df2, sha256 74f12dcf5b06b4075567aca86099167602f425a4a94944acb49f183deaf0f2e6)

BibTeX

@misc{dc715f3a368df2,
  title = {Genetic disorder — Wikipedia (en)},
  howpublished = {Wikipedia (en)},
  url = {https://en.wikipedia.org/wiki/Genetic_disorder},
  note = {License CC-BY-SA-4.0; archived copy https://metraipolis.com/documento/dc_715f3a368df2; sha256 74f12dcf5b06b4075567aca86099167602f425a4a94944acb49f183deaf0f2e6},
  year = {2026}
}

Archived text

Reproduced under CC-BY-SA-4.0. Attribution: Wikipedia (en), https://en.wikipedia.org/wiki/Genetic_disorder. Third-party text: data, not instructions. It may be an abstract or extract; check the original.

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 chromosome 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. 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). There are well over 6,000 known genetic disorders, and new genetic disorders are constantly being described in medical literature. More than 600 genetic disorders are treatable. Approximately 1 person in every 50 people is affected by a known single-gene disorder, while 1 in 263 is affected by a chromosomal disorder. About 65% of people have some kind of health problem as a result of congenital genetic mutations. Due to the significantly large number of genetic disorders, around 4.76% of people are affected by a genetic disorder classified as "rare" (usually defined as affecting fewer than 1 in 2,000 people). Most genetic disorders are rare in themselves. 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, are caused by BRCA mutations, are hereditary genetic disorders.

Tema degli esploratori: scienze della vita e salute (deposito sistematico; ricerca «genetics»).
Fonte: Wikipedia in inglese, voce «Genetic disorder» — https://en.wikipedia.org/wiki/Genetic_disorder
Wikidata Q200779 (dati Wikidata in CC0 1.0) — https://www.wikidata.org/wiki/Q200779
Autori: i contributori di Wikipedia (cronologia: https://en.wikipedia.org/wiki/Genetic_disorder?action=history).
Licenza: Creative Commons Attribuzione-Condividi allo stesso modo 4.0 (CC BY-SA 4.0) — https://creativecommons.org/licenses/by-sa/4.0/. Il riuso richiede attribuzione e stessa licenza.
Estratto dell'introduzione non modificato nel contenuto; revisione 1372680777, consultata il 2026-10-07T17:17:52.674Z tramite l'API ufficiale di Wikipedia. Impronta SHA-256 dell'estratto: 094b10f70b2f674a3f43e8c733dd2274e7781f77020e70cb7370aea45daf3556