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Hereditary disease

MedGen UID:
5527
Concept ID:
C0019247
Disease or Syndrome
Synonyms: Hereditary Disorder; Mendelian disease
SNOMED CT: Genetic disease (782964007); Hereditary disease (32895009); Inherited disease (32895009)
 
Monarch Initiative: MONDO:0003847

Definition

Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary disease

Professional guidelines

PubMed

Botkin JR, Belmont JW, Berg JS, Berkman BE, Bombard Y, Holm IA, Levy HP, Ormond KE, Saal HM, Spinner NB, Wilfond BS, McInerney JD
Am J Hum Genet 2015 Jul 2;97(1):6-21. doi: 10.1016/j.ajhg.2015.05.022. PMID: 26140447Free PMC Article
ACMG Board of Directors.
Genet Med 2015 Jun;17(6):505-7. Epub 2015 Mar 12 doi: 10.1038/gim.2015.41. PMID: 25764213
Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG; American College of Medical Genetics and Genomics.
Genet Med 2013 Jul;15(7):565-74. Epub 2013 Jun 20 doi: 10.1038/gim.2013.73. PMID: 23788249Free PMC Article

External

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Recent clinical studies

Etiology

Venner E, Muzny D, Smith JD, Walker K, Neben CL, Lockwood CM, Empey PE, Metcalf GA, Kachulis C; All of Us Research Program Regulatory Working Group., Mian S, Musick A, Rehm HL, Harrison S, Gabriel S, Gibbs RA, Nickerson D, Zhou AY, Doheny K, Ozenberger B, Topper SE, Lennon NJ
Genome Med 2022 Mar 28;14(1):34. doi: 10.1186/s13073-022-01031-z. PMID: 35346344Free PMC Article
Benusiglio PR, Fallet V, Sanchis-Borja M, Coulet F, Cadranel J
Eur Respir Rev 2021 Dec 31;30(162) Epub 2021 Oct 20 doi: 10.1183/16000617.0045-2021. PMID: 34670806Free PMC Article
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. 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
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

Schade A, Walliser C, Wist M, Haas J, Vatter P, Kraus JM, Filingeri D, Havenith G, Kestler HA, Milner JD, Gierschik P
Cell Signal 2016 Sep;28(9):1237-1251. Epub 2016 May 17 doi: 10.1016/j.cellsig.2016.05.010. PMID: 27196803
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. 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. PMID: 19910034Free PMC Article
Cobb TG
JAAPA 2008 Mar;21(3):29-32. doi: 10.1097/01720610-200803000-00008. 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

Therapy

Das L, Nanda S, Das JK
Nucleosides Nucleotides Nucleic Acids 2020;39(8):1179-1199. Epub 2020 Jun 22 doi: 10.1080/15257770.2020.1780440. PMID: 32571139
Çevik SG, Çevik MÖ, Özmen AT
Arq Bras Oftalmol 2017 Mar-Apr;80(2):114-117. doi: 10.5935/0004-2749.20170027. PMID: 28591285
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. PMID: 19910034Free PMC Article
Cobb TG
JAAPA 2008 Mar;21(3):29-32. doi: 10.1097/01720610-200803000-00008. 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

Prognosis

Das L, Nanda S, Das JK
Nucleosides Nucleotides Nucleic Acids 2020;39(8):1179-1199. Epub 2020 Jun 22 doi: 10.1080/15257770.2020.1780440. PMID: 32571139
Caniza H, Romero AE, Paccanaro A
Sci Rep 2015 Dec 3;5:17658. doi: 10.1038/srep17658. PMID: 26631976Free PMC Article
Friedman JE
Hum Genet 2011 Dec;130(6):705-14. Epub 2011 Jun 12 doi: 10.1007/s00439-011-1022-9. 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

Clinical prediction guides

Venner E, Muzny D, Smith JD, Walker K, Neben CL, Lockwood CM, Empey PE, Metcalf GA, Kachulis C; All of Us Research Program Regulatory Working Group., Mian S, Musick A, Rehm HL, Harrison S, Gabriel S, Gibbs RA, Nickerson D, Zhou AY, Doheny K, Ozenberger B, Topper SE, Lennon NJ
Genome Med 2022 Mar 28;14(1):34. doi: 10.1186/s13073-022-01031-z. PMID: 35346344Free PMC Article
Das L, Nanda S, Das JK
Nucleosides Nucleotides Nucleic Acids 2020;39(8):1179-1199. Epub 2020 Jun 22 doi: 10.1080/15257770.2020.1780440. PMID: 32571139
Boyer DR, Li B, Sun C, Fan W, Sawaya MR, Jiang L, Eisenberg DS
Nat Struct Mol Biol 2019 Nov;26(11):1044-1052. Epub 2019 Nov 6 doi: 10.1038/s41594-019-0322-y. PMID: 31695184Free PMC Article
Caniza H, Romero AE, Paccanaro A
Sci Rep 2015 Dec 3;5:17658. doi: 10.1038/srep17658. PMID: 26631976Free PMC Article
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

Recent systematic reviews

Hallum LE, Dakin SC
Transl Vis Sci Technol 2021 Aug 12;10(10):8. doi: 10.1167/tvst.10.10.8. PMID: 34383874Free PMC Article
Saiyarsarai P, Khorasani E, Photogeraphy H, Ghaffari Darab M, Seyedifar M
Medicine (Baltimore) 2020 Jul 10;99(28):e20949. doi: 10.1097/MD.0000000000020949. PMID: 32664096Free PMC Article
Li C, Geng Y, Zhu X, Zhang L, Hong Z, Guo X, Xia C
Medicine (Baltimore) 2020 Jan;99(5):e18975. doi: 10.1097/MD.0000000000018975. PMID: 32000428Free PMC Article
van den Heuvel LM, Smets EMA, van Tintelen JP, Christiaans I
J Genet Couns 2019 Oct;28(5):1042-1058. Epub 2019 Jun 19 doi: 10.1002/jgc4.1143. PMID: 31216099
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. PMID: 25896430Free PMC Article

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