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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
Harada-Shiba M, Arai H, Ishigaki Y, Ishibashi S, Okamura T, Ogura M, Dobashi K, Nohara A, Bujo H, Miyauchi K, Yamashita S, Yokote K; Working Group by Japan Atherosclerosis Society for Making Guidance of Familial Hypercholesterolemia
J Atheroscler Thromb 2018 Aug 1;25(8):751-770. Epub 2018 Jun 7 doi: 10.5551/jat.CR003. PMID: 29877295Free PMC Article

Curated

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

Recent clinical studies

Etiology

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
Harada-Shiba M, Arai H, Ishigaki Y, Ishibashi S, Okamura T, Ogura M, Dobashi K, Nohara A, Bujo H, Miyauchi K, Yamashita S, Yokote K; Working Group by Japan Atherosclerosis Society for Making Guidance of Familial Hypercholesterolemia
J Atheroscler Thromb 2018 Aug 1;25(8):751-770. Epub 2018 Jun 7 doi: 10.5551/jat.CR003. PMID: 29877295Free PMC Article
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
Lohmann D
Adv Exp Med Biol 2010;685:220-7. doi: 10.1007/978-1-4419-6448-9_21. PMID: 20687510

Diagnosis

AlSabbagh MM
J Dtsch Dermatol Ges 2020 Sep;18(9):943-967. Epub 2020 Sep 15 doi: 10.1111/ddg.14268. PMID: 32930426
Valkovicova T, Skopkova M, Stanik J, Gasperikova D
Endocr Regul 2019 Apr 1;53(2):110-134. doi: 10.2478/enr-2019-0013. PMID: 31517624
Ghata J, Cowley BD Jr
Compr Physiol 2017 Jun 18;7(3):945-975. doi: 10.1002/cphy.c160018. PMID: 28640449
Lohmann D
Adv Exp Med Biol 2010;685:220-7. doi: 10.1007/978-1-4419-6448-9_21. PMID: 20687510
Grosicka A, Kucharz EJ
Wiad Lek 2009;62(3):197-203. PMID: 20229718

Therapy

Thornton CA, Moxley RT 3rd, Eichinger K, Heatwole C, Mignon L, Arnold WD, Ashizawa T, Day JW, Dent G, Tanner MK, Duong T, Greene EP, Herbelin L, Johnson NE, King W, Kissel JT, Leung DG, Lott DJ, Norris DA, Pucillo EM, Schell W, Statland JM, Stinson N, Subramony SH, Xia S, Bishop KM, Bennett CF
Lancet Neurol 2023 Mar;22(3):218-228. doi: 10.1016/S1474-4422(23)00001-7. PMID: 36804094
Kwak J, Lee KE
Endocrinol Metab (Seoul) 2020 Dec;35(4):774-783. Epub 2020 Dec 23 doi: 10.3803/EnM.2020.404. PMID: 33397038Free PMC Article
Harada-Shiba M, Arai H, Ishigaki Y, Ishibashi S, Okamura T, Ogura M, Dobashi K, Nohara A, Bujo H, Miyauchi K, Yamashita S, Yokote K; Working Group by Japan Atherosclerosis Society for Making Guidance of Familial Hypercholesterolemia
J Atheroscler Thromb 2018 Aug 1;25(8):751-770. Epub 2018 Jun 7 doi: 10.5551/jat.CR003. PMID: 29877295Free PMC Article
Ghata J, Cowley BD Jr
Compr Physiol 2017 Jun 18;7(3):945-975. doi: 10.1002/cphy.c160018. PMID: 28640449
Wewers MD, Crystal RG
COPD 2013 Mar;10 Suppl 1:64-7. doi: 10.3109/15412555.2013.764402. PMID: 23527997

Prognosis

Thornton CA, Moxley RT 3rd, Eichinger K, Heatwole C, Mignon L, Arnold WD, Ashizawa T, Day JW, Dent G, Tanner MK, Duong T, Greene EP, Herbelin L, Johnson NE, King W, Kissel JT, Leung DG, Lott DJ, Norris DA, Pucillo EM, Schell W, Statland JM, Stinson N, Subramony SH, Xia S, Bishop KM, Bennett CF
Lancet Neurol 2023 Mar;22(3):218-228. doi: 10.1016/S1474-4422(23)00001-7. PMID: 36804094
Harada-Shiba M, Arai H, Ishigaki Y, Ishibashi S, Okamura T, Ogura M, Dobashi K, Nohara A, Bujo H, Miyauchi K, Yamashita S, Yokote K; Working Group by Japan Atherosclerosis Society for Making Guidance of Familial Hypercholesterolemia
J Atheroscler Thromb 2018 Aug 1;25(8):751-770. Epub 2018 Jun 7 doi: 10.5551/jat.CR003. PMID: 29877295Free PMC Article
Verghese P, Miyashita Y
Clin Perinatol 2014 Sep;41(3):543-60. Epub 2014 Jul 19 doi: 10.1016/j.clp.2014.05.005. PMID: 25155726
Lohmann D
Adv Exp Med Biol 2010;685:220-7. doi: 10.1007/978-1-4419-6448-9_21. PMID: 20687510
Saborio P, Scheinman J
Curr Opin Pediatr 1998 Apr;10(2):174-83. doi: 10.1097/00008480-199804000-00011. PMID: 9608896

Clinical prediction guides

Thornton CA, Moxley RT 3rd, Eichinger K, Heatwole C, Mignon L, Arnold WD, Ashizawa T, Day JW, Dent G, Tanner MK, Duong T, Greene EP, Herbelin L, Johnson NE, King W, Kissel JT, Leung DG, Lott DJ, Norris DA, Pucillo EM, Schell W, Statland JM, Stinson N, Subramony SH, Xia S, Bishop KM, Bennett CF
Lancet Neurol 2023 Mar;22(3):218-228. doi: 10.1016/S1474-4422(23)00001-7. PMID: 36804094
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
Geurts MH, de Poel E, Amatngalim GD, Oka R, Meijers FM, Kruisselbrink E, van Mourik P, Berkers G, de Winter-de Groot KM, Michel S, Muilwijk D, Aalbers BL, Mullenders J, Boj SF, Suen SWF, Brunsveld JE, Janssens HM, Mall MA, Graeber SY, van Boxtel R, van der Ent CK, Beekman JM, Clevers H
Cell Stem Cell 2020 Apr 2;26(4):503-510.e7. Epub 2020 Feb 20 doi: 10.1016/j.stem.2020.01.019. PMID: 32084388
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
Wewers MD, Crystal RG
COPD 2013 Mar;10 Suppl 1:64-7. doi: 10.3109/15412555.2013.764402. PMID: 23527997

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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