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Hereditary disease

MedGen UID:
5527
Concept ID:
C0019247
Disease or Syndrome
Synonyms: Disease, Hereditary; Diseases, Hereditary; Hereditary Disease; Hereditary Diseases
SNOMED CT: Hereditary disease (32895009); Inherited disease (32895009); Genetic disease (32895009)
 

Definition

Genes are the building blocks of heredity. They are passed from parent to child. They hold DNA, the instructions for making proteins. Proteins do most of the work in cells. They move molecules from one place to another, build structures, break down toxins, and do many other maintenance jobs. Sometimes there is a mutation, a change in a gene or genes. The mutation changes the gene's instructions for making a protein, so the protein does not work properly or is missing entirely. This can cause a medical condition called a genetic disorder. You can inherit a gene mutation from one or both parents. A mutation can also happen during your lifetime. There are three types of genetic disorders:: -Single-gene disorders, where a mutation affects one gene. Sickle cell anemia is an example. -Chromosomal disorders, where chromosomes (or parts of chromosomes) are missing or changed. Chromosomes are the structures that hold our genes. Down syndrome is a chromosomal disorder. -Complex disorders, where there are mutations in two or more genes. Often your lifestyle and environment also play a role. Colon cancer is an example. Genetic tests on blood and other tissue can identify genetic disorders. NIH: National Library of Medicine.  [from MedlinePlus]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGHereditary disease

Professional guidelines

PubMed

Genet Med 2015 Jun;17(6):505-7. Epub 2015 Mar 12 doi: 10.1038/gim.2015.41. [Epub ahead of print] PMID: 25764213
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee
Genet Med 2015 May;17(5):405-24. Epub 2015 Mar 5 doi: 10.1038/gim.2015.30. [Epub ahead of print] PMID: 25741868

Recent clinical studies

Etiology

Bausch B, Wellner U, Bausch D, Schiavi F, Barontini M, Sanso G, Walz MK, Peczkowska M, Weryha G, Dall'igna P, Cecchetto G, Bisogno G, Moeller LC, Bockenhauer D, Patocs A, Rácz K, Zabolotnyi D, Yaremchuk S, Dzivite-Krisane I, Castinetti F, Taieb D, Malinoc A, von Dobschuetz E, Roessler J, Schmid KW, Opocher G, Eng C, Neumann HP
Endocr Relat Cancer 2014 Feb;21(1):17-25. Epub 2013 Dec 16 doi: 10.1530/ERC-13-0415. PMID: 24169644
Ozcan F, Sen N, Turak O, Okten S, Ozlü MF
Herz 2012 Jun;37(4):453-5. Epub 2011 Dec 24 doi: 10.1007/s00059-011-3565-x. [Epub ahead of print] PMID: 22193948
Bottorff JL, Blaine S, Carroll JC, Esplen MJ, Evans J, Nicolson Klimek ML, Meschino W, Ritvo P
Community Genet 2005;8(2):80-7. doi: 10.1159/000084775. PMID: 15925883
Boström K, Ahlström G
Am J Med Genet A 2005 Jul 1;136(1):17-24. doi: 10.1002/ajmg.a.30762. PMID: 15889411
Nordin K, Björk J, Berglund G
Prev Med 2004 Dec;39(6):1107-14. doi: 10.1016/j.ypmed.2004.04.021. PMID: 15539044

Diagnosis

Bausch B, Wellner U, Bausch D, Schiavi F, Barontini M, Sanso G, Walz MK, Peczkowska M, Weryha G, Dall'igna P, Cecchetto G, Bisogno G, Moeller LC, Bockenhauer D, Patocs A, Rácz K, Zabolotnyi D, Yaremchuk S, Dzivite-Krisane I, Castinetti F, Taieb D, Malinoc A, von Dobschuetz E, Roessler J, Schmid KW, Opocher G, Eng C, Neumann HP
Endocr Relat Cancer 2014 Feb;21(1):17-25. Epub 2013 Dec 16 doi: 10.1530/ERC-13-0415. PMID: 24169644
Ozcan F, Sen N, Turak O, Okten S, Ozlü MF
Herz 2012 Jun;37(4):453-5. Epub 2011 Dec 24 doi: 10.1007/s00059-011-3565-x. [Epub ahead of print] PMID: 22193948
Gandhi C, Healy C, Wanderer AA, Hoffman HM
J Allergy Clin Immunol 2009 Dec;124(6):1245-50. doi: 10.1016/j.jaci.2009.09.035. [Epub ahead of print] PMID: 19910034Free PMC Article
Nordin K, Björk J, Berglund G
Prev Med 2004 Dec;39(6):1107-14. doi: 10.1016/j.ypmed.2004.04.021. PMID: 15539044
Friedberg EC
Bioessays 2001 Aug;23(8):671-3. doi: 10.1002/bies.1094. PMID: 11494313

Therapy

Bausch B, Wellner U, Bausch D, Schiavi F, Barontini M, Sanso G, Walz MK, Peczkowska M, Weryha G, Dall'igna P, Cecchetto G, Bisogno G, Moeller LC, Bockenhauer D, Patocs A, Rácz K, Zabolotnyi D, Yaremchuk S, Dzivite-Krisane I, Castinetti F, Taieb D, Malinoc A, von Dobschuetz E, Roessler J, Schmid KW, Opocher G, Eng C, Neumann HP
Endocr Relat Cancer 2014 Feb;21(1):17-25. Epub 2013 Dec 16 doi: 10.1530/ERC-13-0415. PMID: 24169644
Gandhi C, Healy C, Wanderer AA, Hoffman HM
J Allergy Clin Immunol 2009 Dec;124(6):1245-50. doi: 10.1016/j.jaci.2009.09.035. [Epub ahead of print] PMID: 19910034Free PMC Article
Cobb TG
JAAPA 2008 Mar;21(3):29-32. PMID: 18432044
Nordin K, Björk J, Berglund G
Prev Med 2004 Dec;39(6):1107-14. doi: 10.1016/j.ypmed.2004.04.021. PMID: 15539044
Waldmann TA, Misiti J, Nelson DL, Kraemer KH
Ann Intern Med 1983 Sep;99(3):367-79. PMID: 6193747

Prognosis

Bausch B, Wellner U, Bausch D, Schiavi F, Barontini M, Sanso G, Walz MK, Peczkowska M, Weryha G, Dall'igna P, Cecchetto G, Bisogno G, Moeller LC, Bockenhauer D, Patocs A, Rácz K, Zabolotnyi D, Yaremchuk S, Dzivite-Krisane I, Castinetti F, Taieb D, Malinoc A, von Dobschuetz E, Roessler J, Schmid KW, Opocher G, Eng C, Neumann HP
Endocr Relat Cancer 2014 Feb;21(1):17-25. Epub 2013 Dec 16 doi: 10.1530/ERC-13-0415. PMID: 24169644
Friedman JE
Hum Genet 2011 Dec;130(6):705-14. Epub 2011 Jun 12 doi: 10.1007/s00439-011-1022-9. [Epub ahead of print] PMID: 21667285
Bottorff JL, Blaine S, Carroll JC, Esplen MJ, Evans J, Nicolson Klimek ML, Meschino W, Ritvo P
Community Genet 2005;8(2):80-7. doi: 10.1159/000084775. PMID: 15925883
Nordin K, Björk J, Berglund G
Prev Med 2004 Dec;39(6):1107-14. doi: 10.1016/j.ypmed.2004.04.021. PMID: 15539044
Searle AG, Edwards JH, Hall JG
J Med Genet 1994 Jan;31(1):1-19. PMID: 8151633Free PMC Article

Clinical prediction guides

Bottorff JL, Blaine S, Carroll JC, Esplen MJ, Evans J, Nicolson Klimek ML, Meschino W, Ritvo P
Community Genet 2005;8(2):80-7. doi: 10.1159/000084775. PMID: 15925883
Nordin K, Björk J, Berglund G
Prev Med 2004 Dec;39(6):1107-14. doi: 10.1016/j.ypmed.2004.04.021. PMID: 15539044
Offit K, Groeger E, Turner S, Wadsworth EA, Weiser MA
JAMA 2004 Sep 22;292(12):1469-73. doi: 10.1001/jama.292.12.1469. PMID: 15383518
Ohshima K, Wells RD
J Biol Chem 1997 Jul 4;272(27):16798-806. PMID: 9201985
Searle AG, Edwards JH, Hall JG
J Med Genet 1994 Jan;31(1):1-19. PMID: 8151633Free PMC Article

Recent systematic reviews

Liu S, Hong X, Shen C, Shi Q, Wang J, Xiong F, Qiu Z
BMC Med Genet 2015 Apr 21;16:26. doi: 10.1186/s12881-015-0171-4. [Epub ahead of print] PMID: 25896430
Goleg FA, Kong NC, Sahathevan R
Int Urol Nephrol 2014 Aug;46(8):1581-7. Epub 2014 Mar 27 doi: 10.1007/s11255-014-0694-1. [Epub ahead of print] PMID: 24671275
Jabbari J, Jabbari R, Nielsen MW, Holst AG, Nielsen JB, Haunsø S, Tfelt-Hansen J, Svendsen JH, Olesen MS
Circ Cardiovasc Genet 2013 Oct;6(5):481-9. Epub 2013 Sep 11 doi: 10.1161/CIRCGENETICS.113.000118. [Epub ahead of print] PMID: 24025405
Wewers MD, Crystal RG
COPD 2013 Mar;10 Suppl 1:64-7. doi: 10.3109/15412555.2013.764402. PMID: 23527997
Gitlin JM, Fischbeck K, Crawford TO, Cwik V, Fleischman A, Gonye K, Heine D, Hobby K, Kaufmann P, Keiles S, MacKenzie A, Musci T, Prior T, Lloyd-Puryear M, Sugarman EA, Terry SF, Urv T, Wang C, Watson M, Yaron Y, Frosst P, Howell RR
Genet Med 2010 Oct;12(10):621-2. doi: 10.1097/GIM.0b013e3181ef6079. PMID: 20808230Free PMC Article

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