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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

Christian S, Cirino A, Hansen B, Harris S, Murad AM, Natoli JL, Malinowski J, Kelly MA
Open Heart 2022 Apr;9(1) doi: 10.1136/openhrt-2021-001815. PMID: 35387861Free 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

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
Roth TL, Marson A
Annu Rev Pathol 2021 Jan 24;16:145-166. doi: 10.1146/annurev-pathmechdis-012419-032626. PMID: 33497260Free PMC Article
Steffin DHM, Hsieh EM, Rouce RH
Adv Pediatr 2019 Aug;66:37-54. Epub 2019 May 16 doi: 10.1016/j.yapd.2019.04.001. PMID: 31230699
Gregg AR
Obstet Gynecol Clin North Am 2018 Mar;45(1):103-112. doi: 10.1016/j.ogc.2017.10.005. PMID: 29428278
Samuelov L, Sprecher E
Cell Tissue Res 2015 Jun;360(3):457-75. Epub 2014 Dec 9 doi: 10.1007/s00441-014-2062-y. PMID: 25487406

Diagnosis

Hwu WL
Pediatr Neonatol 2023 Feb;64 Suppl 1:S1-S2. Epub 2023 Jan 4 doi: 10.1016/j.pedneo.2022.12.003. PMID: 36658017
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
Essays Biochem 2018 Dec 3;62(5):643-723. Epub 2018 Dec 2 doi: 10.1042/EBC20170053. PMID: 30509934Free PMC Article
Churpek JE
Best Pract Res Clin Haematol 2017 Dec;30(4):287-289. Epub 2017 Oct 4 doi: 10.1016/j.beha.2017.10.002. PMID: 29156196Free PMC Article
Spinner NB, Conlin LK
Am J Med Genet C Semin Med Genet 2014 Dec;166C(4):397-405. Epub 2014 Nov 25 doi: 10.1002/ajmg.c.31421. PMID: 25424979

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
Beyene RT, Derryberry SL Jr, Barbul A
Surg Clin North Am 2020 Aug;100(4):695-705. Epub 2020 Jun 17 doi: 10.1016/j.suc.2020.05.002. PMID: 32681870
Zhou LY, Qin Z, Zhu YH, He ZY, Xu T
Curr Gene Ther 2019;19(3):172-196. doi: 10.2174/1566523219666190719100526. PMID: 31566126
Gambari R, Kleanthous M
Mol Diagn Ther 2019 Apr;23(2):153-154. doi: 10.1007/s40291-019-00395-0. PMID: 30903542

Prognosis

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
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
Shaw J, Scotchman E, Chandler N, Chitty LS
Reproduction 2020 Nov;160(5):A1-A11. doi: 10.1530/REP-19-0591. PMID: 32130205
Therrell BL Jr, Padilla CD
Curr Opin Pediatr 2018 Dec;30(6):734-739. doi: 10.1097/MOP.0000000000000683. PMID: 30124582

Clinical prediction guides

Elshafey MA, Abdrabo MS, Elnaggar RK
J Musculoskelet Neuronal Interact 2022 Jun 1;22(2):172-178. PMID: 35642697Free PMC Article
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
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
Shaw J, Scotchman E, Chandler N, Chitty LS
Reproduction 2020 Nov;160(5):A1-A11. doi: 10.1530/REP-19-0591. PMID: 32130205
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

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
Iglesias P, Sánchez JC, Díez JJ
Pituitary 2021 Aug;24(4):630-643. Epub 2021 Mar 24 doi: 10.1007/s11102-021-01141-8. PMID: 33761049
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
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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