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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

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 diseases mimicking multiple sclerosis.
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
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
Gene Therapy: Current Applications and Future Possibilities.
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
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
Inherited desmosomal disorders.
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

New era in the diagnosis and treatment of pediatric genetic diseases.
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
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
Familial myelodysplastic syndrome/acute myeloid leukemia.
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
Mosaicism and clinical genetics.
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

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
The Effect of Comorbidities on Wound Healing.
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
Current RNA-based Therapeutics in Clinical Trials.
Zhou LY, Qin Z, Zhu YH, He ZY, Xu T
Curr Gene Ther 2019;19(3):172-196. doi: 10.2174/1566523219666190719100526. PMID: 31566126
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

Prognosis

Genetic diseases mimicking multiple sclerosis.
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
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
Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency.
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
PREIMPLANTATION GENETIC TESTING: Non-invasive prenatal testing for aneuploidy, copy-number variants and single-gene disorders.
Shaw J, Scotchman E, Chandler N, Chitty LS
Reproduction 2020 Nov;160(5):A1-A11. doi: 10.1530/REP-19-0591. PMID: 32130205
Newborn screening in the developing countries.
Therrell BL Jr, Padilla CD
Curr Opin Pediatr 2018 Dec;30(6):734-739. doi: 10.1097/MOP.0000000000000683. PMID: 30124582

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
Biomarkers for liver disease in urea cycle disorders.
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
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
PREIMPLANTATION GENETIC TESTING: Non-invasive prenatal testing for aneuploidy, copy-number variants and single-gene disorders.
Shaw J, Scotchman E, Chandler N, Chitty LS
Reproduction 2020 Nov;160(5):A1-A11. doi: 10.1530/REP-19-0591. PMID: 32130205
Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.
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

Spectrum of Genetic Diseases in Tunisia: Current Situation and Main Milestones Achieved.
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
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
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
A systematic review of genetic syndromes with obesity.
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
Genetic testing and economic evaluations: a systematic review of the literature.
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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