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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

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
PREIMPLANTATION GENETIC TESTING: Single-cell technologies at the forefront of PGT and embryo research.
Tšuiko O, Fernandez Gallardo E, Voet T, Vermeesch JR
Reproduction 2020 Nov;160(5):A19-A31. doi: 10.1530/REP-20-0102. PMID: 33065545
Update of treatment for mucopolysaccharidosis type III (sanfilippo syndrome).
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

Curated

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

Recent clinical studies

Etiology

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
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
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
Fanconi anemia.
Bagby GC, Alter BP
Semin Hematol 2006 Jul;43(3):147-56. doi: 10.1053/j.seminhematol.2006.04.005. PMID: 16822457

Diagnosis

Hereditary dentin defects with systemic diseases.
Su T, Zhu Y, Wang X, Zhu Q, Duan X
Oral Dis 2023 Sep;29(6):2376-2393. Epub 2023 Apr 24 doi: 10.1111/odi.14589. PMID: 37094075
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
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
Genetics of Dupuytren's disease.
Michou L, Lermusiaux JL, Teyssedou JP, Bardin T, Beaudreuil J, Petit-Teixeira E
Joint Bone Spine 2012 Jan;79(1):7-12. Epub 2011 Jul 30 doi: 10.1016/j.jbspin.2011.05.027. PMID: 21803632
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

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
Update of treatment for mucopolysaccharidosis type III (sanfilippo syndrome).
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
Molecular Mechanisms and Therapeutics for Spinocerebellar Ataxia Type 2.
Egorova PA, Bezprozvanny IB
Neurotherapeutics 2019 Oct;16(4):1050-1073. doi: 10.1007/s13311-019-00777-6. PMID: 31435879Free PMC Article
Osteogenesis imperfecta: pathophysiology and treatment.
Hoyer-Kuhn H, Netzer C, Semler O
Wien Med Wochenschr 2015 Jul;165(13-14):278-84. Epub 2015 Jun 9 doi: 10.1007/s10354-015-0361-x. PMID: 26055811
The diagnosis and treatment of hypertrophic cardiomyopathy.
Prinz C, Farr M, Hering D, Horstkotte D, Faber L
Dtsch Arztebl Int 2011 Apr;108(13):209-15. Epub 2011 Apr 1 doi: 10.3238/arztebl.2011.0209. PMID: 21505608Free PMC Article

Prognosis

Microbiota and fungal-bacterial interactions in the cystic fibrosis lung.
Santos-Fernandez E, Martin-Souto L, Antoran A, Areitio M, Aparicio-Fernandez L, Bouchara JP, Schwarz C, Rementeria A, Buldain I, Ramirez-Garcia A
FEMS Microbiol Rev 2023 May 19;47(3) doi: 10.1093/femsre/fuad029. PMID: 37286896
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
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
The diagnosis and treatment of hypertrophic cardiomyopathy.
Prinz C, Farr M, Hering D, Horstkotte D, Faber L
Dtsch Arztebl Int 2011 Apr;108(13):209-15. Epub 2011 Apr 1 doi: 10.3238/arztebl.2011.0209. PMID: 21505608Free PMC Article

Clinical prediction guides

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
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
Molecular genetics and genetic testing in myotonic dystrophy type 1.
Savić Pavićević D, Miladinović J, Brkušanin M, Šviković S, Djurica S, Brajušković G, Romac S
Biomed Res Int 2013;2013:391821. Epub 2013 Mar 18 doi: 10.1155/2013/391821. PMID: 23586035Free PMC Article
Nail-patella syndrome.
Sabnis SG, Antonovych TT, Argy WP, Rakowski TA, Gandy DR, Salcedo JR
Clin Nephrol 1980 Sep;14(3):148-53. PMID: 7418282

Recent systematic reviews

Retinal Implantation of Electronic Vision Prostheses to Treat Retinitis Pigmentosa: A Systematic Review.
Hallum LE, Dakin SC
Transl Vis Sci Technol 2021 Aug 12;10(10):8. doi: 10.1167/tvst.10.10.8. PMID: 34383874Free PMC Article
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
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

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      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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