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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

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
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
Diagnostic validity and clinical utility of genetic testing for hypertrophic cardiomyopathy: a systematic review and meta-analysis.
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
Extending non-invasive prenatal testing to non-invasive prenatal diagnosis.
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

Genetic Disease and Therapy.
Roth TL, Marson A
Annu Rev Pathol 2021 Jan 24;16:145-166. doi: 10.1146/annurev-pathmechdis-012419-032626. PMID: 33497260Free PMC Article
Hypertrophic Cardiomyopathy: Challenging the Status Quo?
Younger J, Lo A, McCormack L, McGaughran J, Prasad S, Atherton JJ
Heart Lung Circ 2020 Apr;29(4):556-565. Epub 2019 Dec 27 doi: 10.1016/j.hlc.2019.12.005. PMID: 31982299
Familial Pancreatic Ductal Adenocarcinoma.
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
Expanded Carrier Screening.
Gregg AR
Obstet Gynecol Clin North Am 2018 Mar;45(1):103-112. doi: 10.1016/j.ogc.2017.10.005. PMID: 29428278
Prenatal diagnosis.
Baumann P, McFarlin B
J Nurse Midwifery 1994 Mar-Apr;39(2 Suppl):35S-51S. doi: 10.1016/0091-2182(94)90063-9. PMID: 8035244

Diagnosis

Theranostics of Genetic Diseases.
Gambari R, Kleanthous M
Mol Diagn Ther 2019 Apr;23(2):153-154. doi: 10.1007/s40291-019-00395-0. PMID: 30903542
The genetic basis of disease.
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
Autoinflammatory diseases (AID).
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
Genetic testing.
Burke W
N Engl J Med 2002 Dec 5;347(23):1867-75. doi: 10.1056/NEJMoa012113. PMID: 12466512
Prenatal diagnosis.
Baumann P, McFarlin B
J Nurse Midwifery 1994 Mar-Apr;39(2 Suppl):35S-51S. doi: 10.1016/0091-2182(94)90063-9. PMID: 8035244

Therapy

Effects of a core stability exercise program on balance and coordination in children with cerebellar ataxic cerebral palsy.
Elshafey MA, Abdrabo MS, Elnaggar RK
J Musculoskelet Neuronal Interact 2022 Jun 1;22(2):172-178. PMID: 35642697Free PMC Article
CRISPR/Cas gene therapy.
Zhang B
J Cell Physiol 2021 Apr;236(4):2459-2481. Epub 2020 Sep 22 doi: 10.1002/jcp.30064. PMID: 32959897
Costly Genes.
Karayiorgou M
PLoS Genet 2020 Aug;16(8):e1008889. Epub 2020 Aug 20 doi: 10.1371/journal.pgen.1008889. PMID: 32817613Free PMC Article
Pulmonary Alveolar Microlithiasis.
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
RNA therapies.
Payne D
Nature 2019 Oct;574(7778):S1. doi: 10.1038/d41586-019-03067-5. PMID: 31619808

Prognosis

Hodgkin lymphoma.
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
Familial Pancreatic Ductal Adenocarcinoma.
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
Ageing as an Important Risk Factor for Cancer.
Smetana K Jr, Lacina L, Szabo P, Dvořánková B, Brož P, Šedo A
Anticancer Res 2016 Oct;36(10):5009-5017. doi: 10.21873/anticanres.11069. PMID: 27798859
Enhancers and their dynamics during hematopoietic differentiation and emerging strategies for therapeutic action.
Cico A, Andrieu-Soler C, Soler E
FEBS Lett 2016 Nov;590(22):4084-4104. Epub 2016 Oct 6 doi: 10.1002/1873-3468.12424. PMID: 27645909
Human gene therapy.
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

Effects of a core stability exercise program on balance and coordination in children with cerebellar ataxic cerebral palsy.
Elshafey MA, Abdrabo MS, Elnaggar RK
J Musculoskelet Neuronal Interact 2022 Jun 1;22(2):172-178. PMID: 35642697Free PMC Article
Hodgkin lymphoma.
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
Familial Waldenström Macroglobulinemia: Families Informing Populations.
McMaster ML
Hematol Oncol Clin North Am 2018 Oct;32(5):787-809. Epub 2018 Jul 26 doi: 10.1016/j.hoc.2018.05.006. PMID: 30190018
Preimplantation genetic diagnosis.
Bick DP, Lau EC
Pediatr Clin North Am 2006 Aug;53(4):559-77. doi: 10.1016/j.pcl.2006.05.006. PMID: 16872993
Genetic testing.
Pagon RA, Hanson NB, Neufeld-Kaiser W, Covington ML
West J Med 2001 May;174(5):344-7. doi: 10.1136/ewjm.174.5.344. PMID: 11342518Free PMC Article

Recent systematic reviews

Isolated ACTH deficiency induced by cancer immunotherapy: a systematic review.
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
Congenital disorders and community genetic services in Nigeria: A systematic review.
Famuyiwa MK
Afr J Reprod Health 2020 Sep;24(3):161-175. doi: 10.29063/ajrh2020/v24i3.18. PMID: 34077139
An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome.
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
Evidence for penetrance in patients without a family history of disease: a systematic review.
Turner H, Jackson L
Eur J Hum Genet 2020 May;28(5):539-550. Epub 2020 Jan 14 doi: 10.1038/s41431-019-0556-5. PMID: 31937893Free PMC Article
Ovulation induction and epigenetic anomalies.
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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