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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

AGA Clinical Practice Update on Risk Stratification for Colorectal Cancer Screening and Post-Polypectomy Surveillance: Expert Review.
Issaka RB, Chan AT, Gupta S
Gastroenterology 2023 Nov;165(5):1280-1291. Epub 2023 Sep 21 doi: 10.1053/j.gastro.2023.06.033. PMID: 37737817Free PMC Article
S2k guideline: Laser therapy of the skin.
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
Update of treatment for Gaucher disease.
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

Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing.
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
Lung cancer is also a hereditary disease.
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
Dyskeratosis congenita: a literature review.
AlSabbagh MM
J Dtsch Dermatol Ges 2020 Sep;18(9):943-967. Epub 2020 Sep 15 doi: 10.1111/ddg.14268. PMID: 32930426
Improving mutation screening in familial hematuric nephropathies through next generation sequencing.
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
Retinoblastoma.
Lohmann D
Adv Exp Med Biol 2010;685:220-7. doi: 10.1007/978-1-4419-6448-9_21. PMID: 20687510

Diagnosis

Dyskeratosis congenita: a literature review.
AlSabbagh MM
J Dtsch Dermatol Ges 2020 Sep;18(9):943-967. Epub 2020 Sep 15 doi: 10.1111/ddg.14268. PMID: 32930426
Polycystic Kidney Disease.
Ghata J, Cowley BD Jr
Compr Physiol 2017 Jun 18;7(3):945-975. doi: 10.1002/cphy.c160018. PMID: 28640449
Glucocorticoid resistance.
van Rossum EFC, van den Akker ELT
Endocr Dev 2011;20:127-136. Epub 2010 Dec 16 doi: 10.1159/000321234. PMID: 21164266
Retinoblastoma.
Lohmann D
Adv Exp Med Biol 2010;685:220-7. doi: 10.1007/978-1-4419-6448-9_21. PMID: 20687510
Alkaptonuria.
Grosicka A, Kucharz EJ
Wiad Lek 2009;62(3):197-203. PMID: 20229718

Therapy

The current challenges faced by people with hemophilia B.
Miesbach W, von Drygalski A, Smith C, Sivamurthy K, Pinachyan K, Bensen-Kennedy D, Drelich D, Kulkarni R
Eur J Haematol 2024 Mar;112(3):339-349. Epub 2023 Dec 11 doi: 10.1111/ejh.14135. PMID: 38082533
Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial.
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
Minimally Invasive Adrenal Surgery.
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
Polycystic Kidney Disease.
Ghata J, Cowley BD Jr
Compr Physiol 2017 Jun 18;7(3):945-975. doi: 10.1002/cphy.c160018. PMID: 28640449
The Brugada syndrome.
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

Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial.
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
Pathology and genetics of phaeochromocytoma and paraganglioma.
Turchini J, Cheung VKY, Tischler AS, De Krijger RR, Gill AJ
Histopathology 2018 Jan;72(1):97-105. doi: 10.1111/his.13402. PMID: 29239044
Retinoblastoma.
Lohmann D
Adv Exp Med Biol 2010;685:220-7. doi: 10.1007/978-1-4419-6448-9_21. PMID: 20687510
The Brugada syndrome.
Brugada P, Brugada R, Brugada J
Curr Cardiol Rep 2000 Nov;2(6):507-14. doi: 10.1007/s11886-000-0035-0. PMID: 11060577
Genetic renal disease.
Saborio P, Scheinman J
Curr Opin Pediatr 1998 Apr;10(2):174-83. doi: 10.1097/00008480-199804000-00011. PMID: 9608896

Clinical prediction guides

Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing.
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
Genotype-phenotype correlations and clinical outcomes of patients with von Hippel-Lindau disease with large deletions.
Zhang K, Yang W, Ma K, Qiu J, Li L, Xu Y, Zhang Z, Yu C, Zhou J, Gong Y, Cai L, Gong K
J Med Genet 2023 May;60(5):477-483. Epub 2022 Sep 7 doi: 10.1136/jmg-2022-108633. PMID: 37080588
Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial.
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
Cell Type-Specific Transcriptomics Reveals that Mutant Huntingtin Leads to Mitochondrial RNA Release and Neuronal Innate Immune Activation.
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
Genetics of endometriosis: a comprehensive review.
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

Safety and efficacy of gene therapy with onasemnogene abeparvovec in the treatment of spinal muscular atrophy: A systematic review and meta-analysis.
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
Prevalence of Cardiovascular Complications in Individuals with Sickle Cell Anemia and Other Hemoglobinopathies: A Systematic Review.
Lopes A, Dantas MT, Ladeia AMT
Arq Bras Cardiol 2022 Dec;119(6):893-899. doi: 10.36660/abc.20220207. PMID: 36417618Free PMC Article
Incidence of adult Huntington's disease in the UK: a UK-based primary care study and a systematic review.
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
Dialysis-treated end-stage kidney disease in Libya: epidemiology and risk factors.
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
Cystic fibrosis and neonatal screening.
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

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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