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Inborn genetic diseases

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
Synonyms: Disease, Inborn Genetic; Diseases, Inborn Genetic; Genetic Disease, Inborn; Genetic Diseases, Inborn; Inborn Genetic Disease; Inborn Genetic Diseases

Definition

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Inborn genetic diseases

Professional guidelines

PubMed

Edwards JG, Feldman G, Goldberg J, Gregg AR, Norton ME, Rose NC, Schneider A, Stoll K, Wapner R, Watson MS
Obstet Gynecol 2015 Mar;125(3):653-662. doi: 10.1097/AOG.0000000000000666. PMID: 25730230
Howard HC, Knoppers BM, Cornel MC, Wright Clayton E, Sénécal K, Borry P; European Society of Human Genetics.; P3G International Paediatric Platform.; Human Genome Organisation; and the PHG Foundation.
Eur J Hum Genet 2015 Dec;23(12):1593-600. Epub 2015 Jan 28 doi: 10.1038/ejhg.2014.289. PMID: 25626707Free PMC Article
Obstet Gynecol 2015 Jan;125(1):256-260. doi: 10.1097/01.AOG.0000459873.96188.37. PMID: 25560141
Botkin JR, Lewis MH, Watson MS, Swoboda KJ, Anderson R, Berry SA, Bonhomme N, Brosco JP, Comeau AM, Goldenberg A, Goldman E, Therrell B, Levy-Fisch J, Tarini B, Wilfond B; Bioethics and Legal Work Group of the Newborn Screening Translational Research Network.
Pediatrics 2014 Feb;133(2):e410-7. Epub 2014 Jan 6 doi: 10.1542/peds.2013-2271. PMID: 24394680Free PMC Article
Skirton H, Goldsmith L, Jackson L, Lewis C, Chitty L
Eur J Hum Genet 2014 May;22(5):580-6. Epub 2013 Sep 11 doi: 10.1038/ejhg.2013.205. PMID: 24022298Free PMC Article
Blout C, Walsh Vockley C, Gaviglio A, Fox M, Croke B, Williamson Dean L; Newborn Screening Task Force on behalf of the NSGC Public Policy Committee.
J Genet Couns 2014 Feb;23(1):16-9. Epub 2013 Jul 24 doi: 10.1007/s10897-013-9631-1. PMID: 23881473
Cornel MC, Rigter T, Weinreich SS, Burgard P, Hoffmann GF, Lindner M, Gerard Loeber J, Rupp K, Taruscio D, Vittozzi L
Eur J Hum Genet 2014 Jan;22(1):12-7. Epub 2013 May 8 doi: 10.1038/ejhg.2013.90. PMID: 23652378Free PMC Article
Grody WW, Thompson BH, Gregg AR, Bean LH, Monaghan KG, Schneider A, Lebo RV
Genet Med 2013 Jun;15(6):482-3. Epub 2013 Apr 25 doi: 10.1038/gim.2013.47. PMID: 23619275
Fears R, ter Meulen V; EASAC–FEAM Working Group.
Eur J Hum Genet 2013 Jul;21(7):703-7. Epub 2012 Nov 21 doi: 10.1038/ejhg.2012.238. PMID: 23169492Free PMC Article
Therrell BL, Wu C; Secretary of Health and Human Services Advisory Committee on Heritable Disorders in Newborns and Children.; SACHDNC Subcommittee on Long Term Follow-up and Treatment.
Genet Med 2013 Mar;15(3):229-33. Epub 2012 Oct 4 doi: 10.1038/gim.2012.121. PMID: 23037933
Langer A, Holle R, John J
BMC Health Serv Res 2012 Sep 4;12:300. doi: 10.1186/1472-6963-12-300. PMID: 22947299Free PMC Article

Recent clinical studies

Etiology

Nagamani SCS, Ali S, Izem R, Schady D, Masand P, Shneider BL, Leung DH, Burrage LC
Mol Genet Metab 2021 Jun;133(2):148-156. Epub 2021 Apr 8 doi: 10.1016/j.ymgme.2021.04.001. PMID: 33846069Free PMC Article
Kawashima S, Yagi H, Hirano Y, Toki M, Izumi K, Dateki S, Namba N, Kamimaki T, Muroya K, Tanaka T, Fukami M, Kagami M; Japanese SHOX study group.
J Pediatr Endocrinol Metab 2020 Aug 31;33(10):1335-1339. doi: 10.1515/jpem-2020-0198. PMID: 32866124
Ghosh S, Köstel Bal S, Edwards ESJ, Pillay B, Jiménez Heredia R, Erol Cipe F, Rao G, Salzer E, Zoghi S, Abolhassani H, Momen T, Gostick E, Price DA, Zhang Y, Oler AJ, Gonzaga-Jauregui C, Erman B, Metin A, Ilhan I, Haskologlu S, Islamoglu C, Baskin K, Ceylaner S, Yilmaz E, Unal E, Karakukcu M, Berghuis D, Cole T, Gupta AK, Hauck F, Kogler H, Hoepelman AIM, Baris S, Karakoc-Aydiner E, Ozen A, Kager L, Holzinger D, Paulussen M, Krüger R, Meisel R, Oommen PT, Morris E, Neven B, Worth A, van Montfrans J, Fraaij PLA, Choo S, Dogu F, Davies EG, Burns S, Dückers G, Becker RP, von Bernuth H, Latour S, Faraci M, Gattorno M, Su HC, Pan-Hammarström Q, Hammarström L, Lenardo MJ, Ma CS, Niehues T, Aghamohammadi A, Rezaei N, Ikinciogullari A, Tangye SG, Lankester AC, Boztug K
Blood 2020 Dec 3;136(23):2638-2655. doi: 10.1182/blood.2020006738. PMID: 32603431Free PMC Article
Arjunan A, Bellerose H, Torres R, Ben-Shachar R, Hoffman JD, Angle B, Slotnick RN, Simpson BN, Lewis AM, Magoulas PL, Bontempo K, Schulze J, Tarpinian J, Bucher JA, Dineen R, Goetsch A, Lazarin GA, Johansen Taber K
Prenat Diagn 2020 Sep;40(10):1246-1257. Epub 2020 Jun 16 doi: 10.1002/pd.5762. PMID: 32474937Free PMC Article
Lewis H, Samanta D, Örsell JL, Bosanko KA, Rowell A, Jones M, Dale RC, Taravath S, Hahn CD, Krishnakumar D, Chagnon S, Keller S, Hagebeuk E, Pathak S, Bebin EM, Arndt DH, Alexander JJ, Mainali G, Coppola G, Maclean J, Sparagana S, McNamara N, Smith DM, Raggio V, Cruz M, Fernández-Jaén A, Kava MP, Emrick L, Fish JL, Vanderver A, Helman G, Pierson TM, Zarate YA
Pediatr Neurol 2020 Nov;112:94-100. Epub 2020 Apr 13 doi: 10.1016/j.pediatrneurol.2020.04.006. PMID: 32446642

Diagnosis

Shapiro AJ, Kroener L, Quinn MM
J Assist Reprod Genet 2021 Apr;38(4):957-963. Epub 2021 Jan 27 doi: 10.1007/s10815-021-02084-6. PMID: 33501564Free PMC Article
Pecci A, Balduini CL
Blood Rev 2021 Jul;48:100784. Epub 2020 Dec 1 doi: 10.1016/j.blre.2020.100784. PMID: 33317862
Rodrigo L
Best Pract Res Clin Endocrinol Metab 2020 Dec;34(6):101477. Epub 2020 Dec 1 doi: 10.1016/j.beem.2020.101477. PMID: 33353781
Seidel MG
Hematology Am Soc Hematol Educ Program 2020 Dec 4;2020(1):673-679. doi: 10.1182/hematology.2020000153. PMID: 33275670Free PMC Article
Beecroft SJ, Lamont PJ, Edwards S, Goullée H, Davis MR, Laing NG, Ravenscroft G
Mol Diagn Ther 2020 Dec;24(6):641-652. Epub 2020 Sep 30 doi: 10.1007/s40291-020-00495-2. PMID: 32997275

Therapy

Nagamani SCS, Ali S, Izem R, Schady D, Masand P, Shneider BL, Leung DH, Burrage LC
Mol Genet Metab 2021 Jun;133(2):148-156. Epub 2021 Apr 8 doi: 10.1016/j.ymgme.2021.04.001. PMID: 33846069Free PMC Article
Alghamdi MA, Mulla J, Saheb Sharif-Askari N, Guzmán-Vega FJ, Arold ST, Abd-Alwahed M, Alharbi N, Kashour T, Halwani R
Front Immunol 2020;11:599564. Epub 2021 Jan 8 doi: 10.3389/fimmu.2020.599564. PMID: 33488593Free PMC Article
Olaya M, Franco A, Chaparro M, Estupiñan M, Aristizabal D, Builes-Restrepo N, Franco JL, Zea-Vera AF, Estacio M, Manzi E, Beltran E, Perez P, Patiño J, Pachajoa H, Medina-Valencia D
J Clin Immunol 2020 Nov;40(8):1116-1123. Epub 2020 Sep 2 doi: 10.1007/s10875-020-00856-w. PMID: 32880086
Ghosh S, Köstel Bal S, Edwards ESJ, Pillay B, Jiménez Heredia R, Erol Cipe F, Rao G, Salzer E, Zoghi S, Abolhassani H, Momen T, Gostick E, Price DA, Zhang Y, Oler AJ, Gonzaga-Jauregui C, Erman B, Metin A, Ilhan I, Haskologlu S, Islamoglu C, Baskin K, Ceylaner S, Yilmaz E, Unal E, Karakukcu M, Berghuis D, Cole T, Gupta AK, Hauck F, Kogler H, Hoepelman AIM, Baris S, Karakoc-Aydiner E, Ozen A, Kager L, Holzinger D, Paulussen M, Krüger R, Meisel R, Oommen PT, Morris E, Neven B, Worth A, van Montfrans J, Fraaij PLA, Choo S, Dogu F, Davies EG, Burns S, Dückers G, Becker RP, von Bernuth H, Latour S, Faraci M, Gattorno M, Su HC, Pan-Hammarström Q, Hammarström L, Lenardo MJ, Ma CS, Niehues T, Aghamohammadi A, Rezaei N, Ikinciogullari A, Tangye SG, Lankester AC, Boztug K
Blood 2020 Dec 3;136(23):2638-2655. doi: 10.1182/blood.2020006738. PMID: 32603431Free PMC Article
Maddirevula S, Kuwahara H, Ewida N, Shamseldin HE, Patel N, Alzahrani F, AlSheddi T, AlObeid E, Alenazi M, Alsaif HS, Alqahtani M, AlAli M, Al Ali H, Helaby R, Ibrahim N, Abdulwahab F, Hashem M, Hanna N, Monies D, Derar N, Alsagheir A, Alhashem A, Alsaleem B, Alhebbi H, Wali S, Umarov R, Gao X, Alkuraya FS
Genome Biol 2020 Jun 17;21(1):145. doi: 10.1186/s13059-020-02053-9. PMID: 32552793Free PMC Article

Prognosis

Shapiro AJ, Kroener L, Quinn MM
J Assist Reprod Genet 2021 Apr;38(4):957-963. Epub 2021 Jan 27 doi: 10.1007/s10815-021-02084-6. PMID: 33501564Free PMC Article
Pecci A, Balduini CL
Blood Rev 2021 Jul;48:100784. Epub 2020 Dec 1 doi: 10.1016/j.blre.2020.100784. PMID: 33317862
Kawashima S, Yagi H, Hirano Y, Toki M, Izumi K, Dateki S, Namba N, Kamimaki T, Muroya K, Tanaka T, Fukami M, Kagami M; Japanese SHOX study group.
J Pediatr Endocrinol Metab 2020 Aug 31;33(10):1335-1339. doi: 10.1515/jpem-2020-0198. PMID: 32866124
Ghosh S, Köstel Bal S, Edwards ESJ, Pillay B, Jiménez Heredia R, Erol Cipe F, Rao G, Salzer E, Zoghi S, Abolhassani H, Momen T, Gostick E, Price DA, Zhang Y, Oler AJ, Gonzaga-Jauregui C, Erman B, Metin A, Ilhan I, Haskologlu S, Islamoglu C, Baskin K, Ceylaner S, Yilmaz E, Unal E, Karakukcu M, Berghuis D, Cole T, Gupta AK, Hauck F, Kogler H, Hoepelman AIM, Baris S, Karakoc-Aydiner E, Ozen A, Kager L, Holzinger D, Paulussen M, Krüger R, Meisel R, Oommen PT, Morris E, Neven B, Worth A, van Montfrans J, Fraaij PLA, Choo S, Dogu F, Davies EG, Burns S, Dückers G, Becker RP, von Bernuth H, Latour S, Faraci M, Gattorno M, Su HC, Pan-Hammarström Q, Hammarström L, Lenardo MJ, Ma CS, Niehues T, Aghamohammadi A, Rezaei N, Ikinciogullari A, Tangye SG, Lankester AC, Boztug K
Blood 2020 Dec 3;136(23):2638-2655. doi: 10.1182/blood.2020006738. PMID: 32603431Free PMC Article
Maddirevula S, Kuwahara H, Ewida N, Shamseldin HE, Patel N, Alzahrani F, AlSheddi T, AlObeid E, Alenazi M, Alsaif HS, Alqahtani M, AlAli M, Al Ali H, Helaby R, Ibrahim N, Abdulwahab F, Hashem M, Hanna N, Monies D, Derar N, Alsagheir A, Alhashem A, Alsaleem B, Alhebbi H, Wali S, Umarov R, Gao X, Alkuraya FS
Genome Biol 2020 Jun 17;21(1):145. doi: 10.1186/s13059-020-02053-9. PMID: 32552793Free PMC Article

Clinical prediction guides

Konnikova L, Robinson TO, Owings AH, Shirley JF, Davis E, Tang Y, Wall S, Li J, Hasan MH, Gharaibeh RZ, Mendoza Alvarez LB, Ryan LK, Doty A, Chovanec JF, O'Connell MP, Grunes DE, Daley WP, Mayer E, Chang L, Liu J, Snapper SB, Milner JD, Glover SC, Lyons JJ
J Allergy Clin Immunol 2021 Sep;148(3):813-821.e7. Epub 2021 Apr 15 doi: 10.1016/j.jaci.2021.04.004. PMID: 33865872
Nagamani SCS, Ali S, Izem R, Schady D, Masand P, Shneider BL, Leung DH, Burrage LC
Mol Genet Metab 2021 Jun;133(2):148-156. Epub 2021 Apr 8 doi: 10.1016/j.ymgme.2021.04.001. PMID: 33846069Free PMC Article
Shapiro AJ, Kroener L, Quinn MM
J Assist Reprod Genet 2021 Apr;38(4):957-963. Epub 2021 Jan 27 doi: 10.1007/s10815-021-02084-6. PMID: 33501564Free PMC Article
Alghamdi MA, Mulla J, Saheb Sharif-Askari N, Guzmán-Vega FJ, Arold ST, Abd-Alwahed M, Alharbi N, Kashour T, Halwani R
Front Immunol 2020;11:599564. Epub 2021 Jan 8 doi: 10.3389/fimmu.2020.599564. PMID: 33488593Free PMC Article
Seo GH, Kim T, Choi IH, Park JY, Lee J, Kim S, Won DG, Oh A, Lee Y, Choi J, Lee H, Kang HG, Cho HY, Cho MH, Kim YJ, Yoon YH, Eun BL, Desnick RJ, Keum C, Lee BH
Clin Genet 2020 Dec;98(6):562-570. Epub 2020 Sep 17 doi: 10.1111/cge.13848. PMID: 32901917Free PMC Article

Recent systematic reviews

Delhove J, Osenk I, Prichard I, Donnelley M
Hum Gene Ther 2020 Jan;31(1-2):20-46. doi: 10.1089/hum.2019.197. PMID: 31802714
Cannon J, Van Steijvoort E, Borry P, Chokoshvili D
Expert Rev Mol Diagn 2019 Dec;19(12):1117-1129. Epub 2019 Nov 14 doi: 10.1080/14737159.2020.1690456. PMID: 31709839
Babačić H, Mehta A, Merkel O, Schoser B
PLoS One 2019;14(2):e0212198. Epub 2019 Feb 22 doi: 10.1371/journal.pone.0212198. PMID: 30794581Free PMC Article
Richards C, Jones C, Groves L, Moss J, Oliver C
Lancet Psychiatry 2015 Oct;2(10):909-16. Epub 2015 Sep 1 doi: 10.1016/S2215-0366(15)00376-4. PMID: 26341300
Charmandari E
Horm Res Paediatr 2011;76(3):145-55. Epub 2011 Sep 6 doi: 10.1159/000330759. PMID: 21912096

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