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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

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
Quesada R, Dutzler R
J Cyst Fibros 2020 Mar;19 Suppl 1:S37-S41. Epub 2019 Oct 26 doi: 10.1016/j.jcf.2019.10.020. PMID: 31662238

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
Imyanitov EN
Methods Mol Biol 2013;1049:3-7. doi: 10.1007/978-1-62703-547-7_1. PMID: 23913204
Rushton AR
J R Coll Physicians Edinb 2013;43(1):11-4. doi: 10.4997/JRCPE.2013.103. PMID: 23516684
Zhang Y, Zhou X, Huang P
J Genet Genomics 2007 Jul;34(7):573-80. doi: 10.1016/S1673-8527(07)60065-4. PMID: 17643942

Diagnosis

Bayrak F, Brugada P
Turk Kardiyol Dern Ars 2022 Mar 1;50(2):137-144. doi: 10.5543/tkda.2022.21020. PMID: 35400636
Imyanitov EN
Methods Mol Biol 2013;1049:3-7. doi: 10.1007/978-1-62703-547-7_1. PMID: 23913204
Grosicka A, Kucharz EJ
Wiad Lek 2009;62(3):197-203. PMID: 20229718
Au KM, Lau KK, Chan AY, Sheng B, Li HL
Hong Kong Med J 2003 Jun;9(3):217-20. PMID: 12777661
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

Fujimori S
World J Gastroenterol 2023 Feb 21;29(7):1131-1138. doi: 10.3748/wjg.v29.i7.1131. PMID: 36926669Free PMC Article
Topaloglu R
Pediatr Nephrol 2021 Jun;36(6):1347-1352. Epub 2020 Jun 20 doi: 10.1007/s00467-020-04638-9. PMID: 32564281
Kong W, Yao Y, Zhang J, Lu C, Ding Y, Meng Y
Eur J Pharmacol 2020 Dec 5;888:173562. Epub 2020 Sep 16 doi: 10.1016/j.ejphar.2020.173562. PMID: 32949598
Althaus M
Curr Mol Pharmacol 2013 Mar;6(1):3-12. doi: 10.2174/18744672112059990025. PMID: 23547930
Brugada P, Brugada R, Brugada J
Curr Cardiol Rep 2000 Nov;2(6):507-14. doi: 10.1007/s11886-000-0035-0. PMID: 11060577

Prognosis

Hu H, Wu Y, Zhang Y, Zhang L, Zhang J, Zhang R
Medicine (Baltimore) 2023 Feb 10;102(6):e32714. doi: 10.1097/MD.0000000000032714. PMID: 36820546Free PMC Article
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
Sheen JM, Kuo HC, Yu HR, Huang EY, Wu CC, Yang KD
Pediatr Blood Cancer 2009 Dec 15;53(7):1284-8. doi: 10.1002/pbc.22247. PMID: 19711442
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

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
Li Y, Li Y
Zhong Nan Da Xue Xue Bao Yi Xue Ban 2020 Apr 28;45(4):435-439. doi: 10.11817/j.issn.1672-7347.2020.190575. PMID: 32879069
Lee H, Fenster RJ, Pineda SS, Gibbs WS, Mohammadi S, Davila-Velderrain J, Garcia FJ, Therrien M, Novis HS, Gao F, Wilkinson H, Vogt T, Kellis M, LaVoie MJ, Heiman M
Neuron 2020 Sep 9;107(5):891-908.e8. Epub 2020 Jul 17 doi: 10.1016/j.neuron.2020.06.021. PMID: 32681824Free 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
Lopes A, Dantas MT, Ladeia AMT
Arq Bras Cardiol 2022 Dec;119(6):893-899. doi: 10.36660/abc.20220207. PMID: 36417618Free 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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