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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

Lacombe D, Bloch-Zupan A, Bredrup C, Cooper EB, Houge SD, García-Miñaúr S, Kayserili H, Larizza L, Lopez Gonzalez V, Menke LA, Milani D, Saettini F, Stevens CA, Tooke L, Van der Zee JA, Van Genderen MM, Van-Gils J, Waite J, Adrien JL, Bartsch O, Bitoun P, Bouts AHM, Cueto-González AM, Dominguez-Garrido E, Duijkers FA, Fergelot P, Halstead E, Huisman SA, Meossi C, Mullins J, Nikkel SM, Oliver C, Prada E, Rei A, Riddle I, Rodriguez-Fonseca C, Rodríguez Pena R, Russell J, Saba A, Santos-Simarro F, Simpson BN, Smith DF, Stevens MF, Szakszon K, Taupiac E, Totaro N, Valenzuena Palafoll I, Van Der Kaay DCM, Van Wijk MP, Vyshka K, Wiley S, Hennekam RC
J Med Genet 2024 May 21;61(6):503-519. doi: 10.1136/jmg-2023-109438. PMID: 38471765Free PMC Article
Orsborne C, Black N, Naish JH, Woolfson P, Reid AB, Schmitt M, Jovanovic A, Miller CA
Heart 2023 Dec 15;110(1):19-26. doi: 10.1136/heartjnl-2023-322712. PMID: 37640453Free PMC Article
Horton RH, Wellesley DG
Arch Dis Child Fetal Neonatal Ed 2019 Jan;104(1):F6-F7. Epub 2018 Jun 28 doi: 10.1136/archdischild-2018-314845. PMID: 29954879

Recent clinical studies

Etiology

Roth TL, Marson A
Annu Rev Pathol 2021 Jan 24;16:145-166. doi: 10.1146/annurev-pathmechdis-012419-032626. PMID: 33497260Free PMC Article
Harris S, Vora NL
Obstet Gynecol Clin North Am 2018 Jun;45(2):249-265. doi: 10.1016/j.ogc.2018.01.010. PMID: 29747729Free PMC Article
Gregg AR
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Samuelov L, Sprecher E
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Semin Thromb Hemost 2014 Oct;40(7):774-84. Epub 2014 Aug 31 doi: 10.1055/s-0034-1387922. PMID: 25173502

Diagnosis

Gambari R, Kleanthous M
Mol Diagn Ther 2019 Apr;23(2):153-154. doi: 10.1007/s40291-019-00395-0. PMID: 30903542
Jackson M, Marks L, May GHW, Wilson JB
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Dugoff L
Obstet Gynecol Clin North Am 2018 Mar;45(1):xv-xvi. doi: 10.1016/j.ogc.2017.12.001. PMID: 29428290
Stower H
Genome Biol 2011 Sep 14;12(9):407. doi: 10.1186/gb-2011-12-9-407. PMID: 21920053Free PMC Article
Verlinsky Y, Kuliev A
J Assist Reprod Genet 1998 May;15(5):215-8. doi: 10.1023/a:1022536005746. PMID: 9604750Free PMC Article

Therapy

Elshafey MA, Abdrabo MS, Elnaggar RK
J Musculoskelet Neuronal Interact 2022 Jun 1;22(2):172-178. PMID: 35642697Free PMC Article
Zhang B
J Cell Physiol 2021 Apr;236(4):2459-2481. Epub 2020 Sep 22 doi: 10.1002/jcp.30064. PMID: 32959897
Gambari R, Kleanthous M
Mol Diagn Ther 2019 Apr;23(2):153-154. doi: 10.1007/s40291-019-00395-0. PMID: 30903542
Stathopoulou MG, Kanoni S, Papanikolaou G, Antonopoulou S, Nomikos T, Dedoussis G
Prog Mol Biol Transl Sci 2012;108:201-36. doi: 10.1016/B978-0-12-398397-8.00009-5. PMID: 22656379
Anderson WF
Science 1992 May 8;256(5058):808-13. doi: 10.1126/science.1589762. PMID: 1589762

Prognosis

Landstrom AP, Kim JJ, Gelb BD, Helm BM, Kannankeril PJ, Semsarian C, Sturm AC, Tristani-Firouzi M, Ware SM; American Heart Association Council on Genomic and Precision Medicine; Council on Lifelong Congenital Heart Disease and Heart Health in the Young; Council on Arteriosclerosis, Thrombosis and Vascular Biology; and Council on Lifestyle and Cardiometabolic Health
Circ Genom Precis Med 2021 Oct;14(5):e000086. Epub 2021 Aug 20 doi: 10.1161/HCG.0000000000000086. PMID: 34412507Free PMC Article
Hsu CL, Iwanowski P, Hsu CH, Kozubski W
Postgrad Med 2021 Sep;133(7):728-749. Epub 2021 Jul 6 doi: 10.1080/00325481.2021.1945898. PMID: 34152933
Connors JM, Cozen W, Steidl C, Carbone A, Hoppe RT, Flechtner HH, Bartlett NL
Nat Rev Dis Primers 2020 Jul 23;6(1):61. doi: 10.1038/s41572-020-0189-6. PMID: 32703953
Sun Y, Man J, Wan Y, Pan G, Du L, Li L, Yang Y, Qiu L, Gao Q, Dan H, Mao L, Cheng Z, Fan C, Yu J, Lin M, Kristiansen K, Shen Y, Wei X
Sci Rep 2018 Aug 3;8(1):11646. doi: 10.1038/s41598-018-30151-z. PMID: 30076350Free PMC Article
Verma IM, Naviaux RK
Curr Opin Genet Dev 1991 Jun;1(1):54-9. doi: 10.1016/0959-437x(91)80041-j. PMID: 1840879

Clinical prediction guides

Elshafey MA, Abdrabo MS, Elnaggar RK
J Musculoskelet Neuronal Interact 2022 Jun 1;22(2):172-178. PMID: 35642697Free 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
Connors JM, Cozen W, Steidl C, Carbone A, Hoppe RT, Flechtner HH, Bartlett NL
Nat Rev Dis Primers 2020 Jul 23;6(1):61. doi: 10.1038/s41572-020-0189-6. PMID: 32703953
Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM
Nat Med 2019 Mar;25(3):439-447. Epub 2019 Jan 28 doi: 10.1038/s41591-018-0334-x. PMID: 30692697
Posey JE, Harel T, Liu P, Rosenfeld JA, James RA, Coban Akdemir ZH, Walkiewicz M, Bi W, Xiao R, Ding Y, Xia F, Beaudet AL, Muzny DM, Gibbs RA, Boerwinkle E, Eng CM, Sutton VR, Shaw CA, Plon SE, Yang Y, Lupski JR
N Engl J Med 2017 Jan 5;376(1):21-31. Epub 2016 Dec 7 doi: 10.1056/NEJMoa1516767. PMID: 27959697Free PMC Article

Recent systematic reviews

Mezzi N, Messaoud O, Mkaouar R, Zitouna N, Romdhane S, Abdessalem G, Charfeddine C, Maazoul F, Ouerteni I, Hamdi Y, Zaouak A, Mrad R, Abdelhak S, Romdhane L
Genes (Basel) 2021 Nov 19;12(11) doi: 10.3390/genes12111820. PMID: 34828426Free PMC Article
Adler A, Novelli V, Amin AS, Abiusi E, Care M, Nannenberg EA, Feilotter H, Amenta S, Mazza D, Bikker H, Sturm AC, Garcia J, Ackerman MJ, Hershberger RE, Perez MV, Zareba W, Ware JS, Wilde AAM, Gollob MH
Circulation 2020 Feb 11;141(6):418-428. Epub 2020 Jan 27 doi: 10.1161/CIRCULATIONAHA.119.043132. PMID: 31983240Free PMC Article
Kaur Y, de Souza RJ, Gibson WT, Meyre D
Obes Rev 2017 Jun;18(6):603-634. Epub 2017 Mar 27 doi: 10.1111/obr.12531. PMID: 28346723
Karginov TA, Pastor DPH, Semler BL, Gomez CM
Trends Genet 2017 Feb;33(2):129-142. Epub 2016 Dec 21 doi: 10.1016/j.tig.2016.11.007. PMID: 28012572Free PMC Article
D'Andrea E, Marzuillo C, Pelone F, De Vito C, Villari P
Epidemiol Prev 2015 Jul-Aug;39(4 Suppl 1):45-50. PMID: 26499415

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