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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  
  • CROGVInborn 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):653-62. doi: 10.1097/AOG.0000000000000666. PMID: 25730230
Howard HC, Knoppers BM, Cornel MC, Wright Clayton E, Sénécal K, Borry P; endorsed by the European Society of Human Genetics; the P3G International Paediatric Platform; the 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. [Epub ahead of print] PMID: 25626707
Committee on Genetics
Obstet Gynecol 2015 Jan;125(1):256-60. 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. [Epub ahead of print] 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. [Epub ahead of print] 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. [Epub ahead of print] 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. [Epub ahead of print] 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. [Epub ahead of print] 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. [Epub ahead of print] 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. [Epub ahead of print] PMID: 23037933
Langer A, Holle R, John J
BMC Health Serv Res 2012 Sep 4;12:300. doi: 10.1186/1472-6963-12-300. [Epub ahead of print] PMID: 22947299Free PMC Article

External

Diagnostic Guidelines for Confirmation of Screen-Positive Newborn Screening Results

Recent clinical studies

Etiology

Groza T, Köhler S, Moldenhauer D, Vasilevsky N, Baynam G, Zemojtel T, Schriml LM, Kibbe WA, Schofield PN, Beck T, Vasant D, Brookes AJ, Zankl A, Washington NL, Mungall CJ, Lewis SE, Haendel MA, Parkinson H, Robinson PN
Am J Hum Genet 2015 Jul 2;97(1):111-24. Epub 2015 Jun 25 doi: 10.1016/j.ajhg.2015.05.020. [Epub ahead of print] PMID: 26119816
Lewis C, Choudhury M, Chitty LS
Prenat Diagn 2015 May;35(5):420-7. Epub 2014 Sep 22 doi: 10.1002/pd.4488. [Epub ahead of print] PMID: 25233815
Kroll RR, Flood DA, Srigley J
Can Respir J 2014 Mar-Apr;21(2):86-8. Epub 2014 Feb 12 [Epub ahead of print] PMID: 24524107Free PMC Article
Tan YQ, Tan K, Zhang SP, Gong F, Cheng DH, Xiong B, Lu CF, Tang XC, Luo KL, Lin G, Lu GX
Hum Reprod 2013 Sep;28(9):2581-92. Epub 2013 Jul 11 doi: 10.1093/humrep/det271. [Epub ahead of print] PMID: 23847111
Rawat D, Kelly DA, Milford DV, Sharif K, Lloyd C, McKiernan PJ
J Pediatr Gastroenterol Nutr 2013 Aug;57(2):161-6. doi: 10.1097/MPG.0b013e318291e72b. PMID: 23518487

Diagnosis

Serrão T, Dias A, Nunes P, Figueiredo A
BMJ Case Rep 2015 May 6;2015 doi: 10.1136/bcr-2015-209615. PMID: 25948855
Hoyer PF
Curr Opin Pediatr 2015 Apr;27(2):186-92. doi: 10.1097/MOP.0000000000000196. PMID: 25689455
Uruha A, Hayashi YK, Oya Y, Mori-Yoshimura M, Kanai M, Murata M, Kawamura M, Ogata K, Matsumura T, Suzuki S, Takahashi Y, Kondo T, Kawarabayashi T, Ishii Y, Kokubun N, Yokoi S, Yasuda R, Kira J, Mitsuhashi S, Noguchi S, Nonaka I, Nishino I
J Neurol Neurosurg Psychiatry 2015 May;86(5):483-9. Epub 2014 Sep 24 doi: 10.1136/jnnp-2014-309009. [Epub ahead of print] PMID: 25253871
Dueckers G, Sander O, Niehues T
Klin Padiatr 2014 May;226(3):133-42. Epub 2014 May 12 doi: 10.1055/s-0034-1366987. PMID: 24819385
Speeckaert R, Van Gele M, Speeckaert MM, Lambert J, van Geel N
Pigment Cell Melanoma Res 2014 Jul;27(4):512-24. Epub 2014 Mar 20 doi: 10.1111/pcmr.12235. [Epub ahead of print] PMID: 24612852

Therapy

Abdel-Azim H, Mahadeo KM, Zhao Q, Khazal S, Kohn DB, Crooks GM, Shah AJ, Kapoor N
Am J Hematol 2015 Nov;90(11):1021-6. Epub 2015 Oct 12 doi: 10.1002/ajh.24141. [Epub ahead of print] PMID: 26242764
Serrão T, Dias A, Nunes P, Figueiredo A
BMJ Case Rep 2015 May 6;2015 doi: 10.1136/bcr-2015-209615. PMID: 25948855
Zhang Y, Yu X, Ichikawa M, Lyons JJ, Datta S, Lamborn IT, Jing H, Kim ES, Biancalana M, Wolfe LA, DiMaggio T, Matthews HF, Kranick SM, Stone KD, Holland SM, Reich DS, Hughes JD, Mehmet H, McElwee J, Freeman AF, Freeze HH, Su HC, Milner JD
J Allergy Clin Immunol 2014 May;133(5):1400-9, 1409.e1-5. Epub 2014 Feb 28 doi: 10.1016/j.jaci.2014.02.013. [Epub ahead of print] PMID: 24589341Free PMC Article
Kroll RR, Flood DA, Srigley J
Can Respir J 2014 Mar-Apr;21(2):86-8. Epub 2014 Feb 12 [Epub ahead of print] PMID: 24524107Free PMC Article
Amagwula T, Chang PL, Hossain A, Tyner J, Rivers AL, Phelps JY
Fertil Steril 2012 Nov;98(5):1277-82. Epub 2012 Aug 14 doi: 10.1016/j.fertnstert.2012.07.1100. [Epub ahead of print] PMID: 22901852

Prognosis

Hoyer PF
Curr Opin Pediatr 2015 Apr;27(2):186-92. doi: 10.1097/MOP.0000000000000196. PMID: 25689455
Uruha A, Hayashi YK, Oya Y, Mori-Yoshimura M, Kanai M, Murata M, Kawamura M, Ogata K, Matsumura T, Suzuki S, Takahashi Y, Kondo T, Kawarabayashi T, Ishii Y, Kokubun N, Yokoi S, Yasuda R, Kira J, Mitsuhashi S, Noguchi S, Nonaka I, Nishino I
J Neurol Neurosurg Psychiatry 2015 May;86(5):483-9. Epub 2014 Sep 24 doi: 10.1136/jnnp-2014-309009. [Epub ahead of print] PMID: 25253871
Nigro V, Piluso G
Biochim Biophys Acta 2015 Apr;1852(4):585-93. Epub 2014 Jul 30 doi: 10.1016/j.bbadis.2014.07.023. [Epub ahead of print] PMID: 25086336
Jönsson ÅL, Simonsen U, Hilberg O, Bendstrup E
Eur Respir Rev 2012 Sep 1;21(125):249-56. doi: 10.1183/09059180.00009411. PMID: 22941890
Amagwula T, Chang PL, Hossain A, Tyner J, Rivers AL, Phelps JY
Fertil Steril 2012 Nov;98(5):1277-82. Epub 2012 Aug 14 doi: 10.1016/j.fertnstert.2012.07.1100. [Epub ahead of print] PMID: 22901852

Clinical prediction guides

Olbrich P, Martínez-Saavedra MT, Perez-Hurtado JM, Sanchez C, Sanchez B, Deswarte C, Obando I, Casanova JL, Speckmann C, Bustamante J, Rodriguez-Gallego C, Neth O
Pediatr Blood Cancer 2015 Nov;62(11):2036-9. Epub 2015 Jul 14 doi: 10.1002/pbc.25625. [Epub ahead of print] PMID: 26173802Free PMC Article
Budde BS, Mizumoto S, Kogawa R, Becker C, Altmüller J, Thiele H, Rüschendorf F, Toliat MR, Kaleschke G, Hämmerle JM, Höhne W, Sugahara K, Nürnberg P, Kennerknecht I
Hum Genet 2015 Jul;134(7):691-704. Epub 2015 Apr 19 doi: 10.1007/s00439-015-1549-2. [Epub ahead of print] PMID: 25893793
Deckard J, McDonald CJ, Vreeman DJ
J Am Med Inform Assoc 2015 May;22(3):621-7. Epub 2015 Feb 5 doi: 10.1093/jamia/ocu012. [Epub ahead of print] PMID: 25656513
Uruha A, Hayashi YK, Oya Y, Mori-Yoshimura M, Kanai M, Murata M, Kawamura M, Ogata K, Matsumura T, Suzuki S, Takahashi Y, Kondo T, Kawarabayashi T, Ishii Y, Kokubun N, Yokoi S, Yasuda R, Kira J, Mitsuhashi S, Noguchi S, Nonaka I, Nishino I
J Neurol Neurosurg Psychiatry 2015 May;86(5):483-9. Epub 2014 Sep 24 doi: 10.1136/jnnp-2014-309009. [Epub ahead of print] PMID: 25253871
Amagwula T, Chang PL, Hossain A, Tyner J, Rivers AL, Phelps JY
Fertil Steril 2012 Nov;98(5):1277-82. Epub 2012 Aug 14 doi: 10.1016/j.fertnstert.2012.07.1100. [Epub ahead of print] PMID: 22901852

Recent systematic reviews

Che J, Shin M
Biomed Res Int 2015;2015:576349. Epub 2015 Mar 22 doi: 10.1155/2015/576349. PMID: 25874220Free PMC Article
Nigro V, Piluso G
Biochim Biophys Acta 2015 Apr;1852(4):585-93. Epub 2014 Jul 30 doi: 10.1016/j.bbadis.2014.07.023. [Epub ahead of print] PMID: 25086336
Zakharov S, Wang X, Liu J, Teo YY
Eur J Hum Genet 2015 Feb;23(2):238-44. Epub 2014 May 7 doi: 10.1038/ejhg.2014.78. [Epub ahead of print] PMID: 24801758Free PMC Article
Amagwula T, Chang PL, Hossain A, Tyner J, Rivers AL, Phelps JY
Fertil Steril 2012 Nov;98(5):1277-82. Epub 2012 Aug 14 doi: 10.1016/j.fertnstert.2012.07.1100. [Epub ahead of print] PMID: 22901852
Charmandari E
Horm Res Paediatr 2011;76(3):145-55. Epub 2011 Sep 6 doi: 10.1159/000330759. [Epub ahead of print] PMID: 21912096

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