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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

Therapy

Elshafey MA, Abdrabo MS, Elnaggar RK
J Musculoskelet Neuronal Interact 2022 Jun 1;22(2):172-178. PMID: 35642697Free PMC Article
Murdock DR, Dai H, Burrage LC, Rosenfeld JA, Ketkar S, Müller MF, Yépez VA, Gagneur J, Liu P, Chen S, Jain M, Zapata G, Bacino CA, Chao HT, Moretti P, Craigen WJ, Hanchard NA; Undiagnosed Diseases Network, Lee B
J Clin Invest 2021 Jan 4;131(1) doi: 10.1172/JCI141500. PMID: 33001864Free PMC Article
Zhang B
J Cell Physiol 2021 Apr;236(4):2459-2481. Epub 2020 Sep 22 doi: 10.1002/jcp.30064. PMID: 32959897
Shaw BM, Shaw SD, McCormack FX
Semin Respir Crit Care Med 2020 Apr;41(2):280-287. Epub 2020 Apr 12 doi: 10.1055/s-0040-1702211. PMID: 32279298
Gambari R, Kleanthous M
Mol Diagn Ther 2019 Apr;23(2):153-154. doi: 10.1007/s40291-019-00395-0. PMID: 30903542

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
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
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
Diaz KE, Lucas AL
Am J Pathol 2019 Jan;189(1):36-43. doi: 10.1016/j.ajpath.2018.06.026. PMID: 30558720Free PMC Article
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

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
Bastarache L, Hughey JJ, Hebbring S, Marlo J, Zhao W, Ho WT, Van Driest SL, McGregor TL, Mosley JD, Wells QS, Temple M, Ramirez AH, Carroll R, Osterman T, Edwards T, Ruderfer D, Velez Edwards DR, Hamid R, Cogan J, Glazer A, Wei WQ, Feng Q, Brilliant M, Zhao ZJ, Cox NJ, Roden DM, Denny JC
Science 2018 Mar 16;359(6381):1233-1239. doi: 10.1126/science.aal4043. PMID: 29590070Free PMC Article
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

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
Fauque P
Fertil Steril 2013 Mar 1;99(3):616-23. doi: 10.1016/j.fertnstert.2012.12.047. PMID: 23714436

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