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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

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
Alpha-1 antitrypsin augmentation therapy.
Wewers MD, Crystal RG
COPD 2013 Mar;10 Suppl 1:64-7. doi: 10.3109/15412555.2013.764402. PMID: 23527997
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

STRUCTURAL HEART ANOMALIES (REVIEW).
Osovska N, Kuzminova N, Ovcharuk M, Serhiychuk O
Georgian Med News 2016 Jun;(255):66-77. PMID: 27441539
Neonatal polycystic kidney disease.
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
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

Cystic Fibrosis: Understanding Cystic Fibrosis Transmembrane Regulator Mutation Classification and Modulator Therapies.
Anwar S, Peng JL, Zahid KR, Zhou YM, Ali Q, Qiu CR
Adv Respir Med 2024 Jul 20;92(4):263-277. doi: 10.3390/arm92040026. PMID: 39051188Free PMC Article
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
Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program.
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
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

Polyneuropathy in Patients with Spinocerebellar Ataxias Types 2, 3, and 10: A Systematic Review.
de Almeida Franzoi AE, da Silva GF, de Souza Somensi E, de Moura Campos MH, Wollmann GM, Fustes OJH, Marques GL, Teive HAG
Cerebellum 2024 Dec;23(6):2593-2606. Epub 2024 Aug 29 doi: 10.1007/s12311-024-01730-w. PMID: 39198325
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
Cost-utility of new film-coated tablet formulation of deferasirox vs deferoxamine among major beta-thalassemia patients in Iran.
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
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
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    • 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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