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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

Chen E, Facio FM, Aradhya KW, Rojahn S, Hatchell KE, Aguilar S, Ouyang K, Saitta S, Hanson-Kwan AK, Capurro NN, Takamine E, Jamuar SS, McKnight D, Johnson B, Aradhya S
JAMA Netw Open 2023 Oct 2;6(10):e2339571. doi: 10.1001/jamanetworkopen.2023.39571. PMID: 37878314Free PMC Article
Paasch U, Zidane M, Baron JM, Bund T, Cappius HJ, Drosner M, Feise K, Fischer T, Gauglitz G, Gerber PA, Grunewald S, Herberger K, Jung A, Karsai S, Kautz G, Philipp C, Schädel D, Seitz AT, Nast A
J Dtsch Dermatol Ges 2022 Sep;20(9):1248-1267. Epub 2022 Sep 13 doi: 10.1111/ddg.14879. PMID: 36098675
Kong W, Lu C, Ding Y, Meng Y
Eur J Pharmacol 2022 Jul 5;926:175023. Epub 2022 May 13 doi: 10.1016/j.ejphar.2022.175023. PMID: 35569551

Curated

Ethical and Policy Issues in Genetic Testing and Screening of Children, Pediatrics (2013) 131 (3): 620–622.

Recent clinical studies

Etiology

Bayrak F, Brugada P
Turk Kardiyol Dern Ars 2022 Mar 1;50(2):137-144. doi: 10.5543/tkda.2022.21020. PMID: 35400636
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
AlSabbagh MM
J Dtsch Dermatol Ges 2020 Sep;18(9):943-967. Epub 2020 Sep 15 doi: 10.1111/ddg.14268. PMID: 32930426
Morinière V, Dahan K, Hilbert P, Lison M, Lebbah S, Topa A, Bole-Feysot C, Pruvost S, Nitschke P, Plaisier E, Knebelmann B, Macher MA, Noel LH, Gubler MC, Antignac C, Heidet L
J Am Soc Nephrol 2014 Dec;25(12):2740-51. Epub 2014 May 22 doi: 10.1681/ASN.2013080912. PMID: 24854265Free PMC Article
Imyanitov EN
Methods Mol Biol 2013;1049:3-7. doi: 10.1007/978-1-62703-547-7_1. PMID: 23913204

Diagnosis

Topaloglu R
Pediatr Nephrol 2021 Jun;36(6):1347-1352. Epub 2020 Jun 20 doi: 10.1007/s00467-020-04638-9. PMID: 32564281
AlSabbagh MM
J Dtsch Dermatol Ges 2020 Sep;18(9):943-967. Epub 2020 Sep 15 doi: 10.1111/ddg.14268. PMID: 32930426
Finsterer J, Wahbi K
Acta Cardiol 2016 Aug;71(4):389-94. doi: 10.2143/AC.71.4.3159700. PMID: 27594353
Imyanitov EN
Methods Mol Biol 2013;1049:3-7. doi: 10.1007/978-1-62703-547-7_1. PMID: 23913204
Brugada P, Brugada R, Brugada J
Curr Cardiol Rep 2000 Nov;2(6):507-14. doi: 10.1007/s11886-000-0035-0. PMID: 11060577

Therapy

Topaloglu R
Pediatr Nephrol 2021 Jun;36(6):1347-1352. Epub 2020 Jun 20 doi: 10.1007/s00467-020-04638-9. PMID: 32564281
Hotta Y, Kawasaki T, Kotani T, Okada H, Ikeda K, Yamane S, Yamada N, Sekoguchi S, Isozaki Y, Nagao Y, Murotani M, Oyamada H
Intern Med 2020 May 15;59(10):1267-1270. Epub 2020 Feb 12 doi: 10.2169/internalmedicine.3175-19. PMID: 32051376Free PMC Article
Ghata J, Cowley BD Jr
Compr Physiol 2017 Jun 18;7(3):945-975. doi: 10.1002/cphy.c160018. PMID: 28640449
Brugada P, Brugada R, Brugada J
Curr Cardiol Rep 2000 Nov;2(6):507-14. doi: 10.1007/s11886-000-0035-0. PMID: 11060577
Evans PR
Br Med J 1975 Jul 19;3(5976):141-4. doi: 10.1136/bmj.3.5976.141. PMID: 806325Free PMC Article

Prognosis

Plana-Pla A, Bielsa-Marsol I, Carrato-Moñino C; en representación del grupo de Centros, Servicios y Unidades de Referencia (CSUR) en Factomatosis
Actas Dermosifiliogr 2017 Sep;108(7):630-636. Epub 2017 Feb 22 doi: 10.1016/j.ad.2016.12.007. PMID: 28237041
Osovska N, Kuzminova N, Ovcharuk M, Serhiychuk O
Georgian Med News 2016 Jun;(255):66-77. PMID: 27441539
Lohmann D
Adv Exp Med Biol 2010;685:220-7. doi: 10.1007/978-1-4419-6448-9_21. PMID: 20687510
Jurkat-Rott K, Lehmann-Horn F
Curr Opin Pharmacol 2001 Jun;1(3):280-7. doi: 10.1016/s1471-4892(01)00050-9. PMID: 11712752
Brugada P, Brugada R, Brugada J
Curr Cardiol Rep 2000 Nov;2(6):507-14. doi: 10.1007/s11886-000-0035-0. PMID: 11060577

Clinical prediction guides

Chen E, Facio FM, Aradhya KW, Rojahn S, Hatchell KE, Aguilar S, Ouyang K, Saitta S, Hanson-Kwan AK, Capurro NN, Takamine E, Jamuar SS, McKnight D, Johnson B, Aradhya S
JAMA Netw Open 2023 Oct 2;6(10):e2339571. doi: 10.1001/jamanetworkopen.2023.39571. PMID: 37878314Free PMC Article
Obuća M, Cvačková Z, Kubovčiak J, Kolář M, Staněk D
PLoS One 2022;17(4):e0265742. Epub 2022 Apr 6 doi: 10.1371/journal.pone.0265742. PMID: 35385551Free PMC Article
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
Hotta Y, Kawasaki T, Kotani T, Okada H, Ikeda K, Yamane S, Yamada N, Sekoguchi S, Isozaki Y, Nagao Y, Murotani M, Oyamada H
Intern Med 2020 May 15;59(10):1267-1270. Epub 2020 Feb 12 doi: 10.2169/internalmedicine.3175-19. PMID: 32051376Free PMC Article
Deiana D, Gessa S, Anardu M, Daniilidis A, Nappi L, D'Alterio MN, Pontis A, Angioni S
Gynecol Endocrinol 2019 Jul;35(7):553-558. Epub 2019 Mar 25 doi: 10.1080/09513590.2019.1588244. PMID: 30909768

Recent systematic reviews

Yang D, Ruan Y, Chen Y
J Paediatr Child Health 2023 Mar;59(3):431-438. Epub 2023 Feb 1 doi: 10.1111/jpc.16340. PMID: 36722610
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
Wexler NS, Collett L, Wexler AR, Rawlins MD, Tabrizi SJ, Douglas I, Smeeth L, Evans SJ
BMJ Open 2016 Feb 23;6(2):e009070. doi: 10.1136/bmjopen-2015-009070. PMID: 26908513Free PMC Article
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. PMID: 24671275
Rodrigues R, Gabetta CS, Pedro KP, Valdetaro F, Fernandes MI, Magalhães PK, Januário JN, Maciel LM
Cad Saude Publica 2008;24 Suppl 4:s475-84. doi: 10.1590/s0102-311x2008001600002. PMID: 18797725

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • AAP, 2013
      Ethical and Policy Issues in Genetic Testing and Screening of Children, Pediatrics (2013) 131 (3): 620–622.

    Consumer resources

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