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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

Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing-PanelApp R21 and HPO-Driven Versus OMIM-Based Gene Lists.
Ardiles-Ruesjas V, Rodriguez-Revenga L, Pauta M, Nadal A, Arca G, Gort L, Sinisterra-Díaz SE, Borrell A
Prenat Diagn 2026 May;46(5-6):636-642. Epub 2026 Jan 4 doi: 10.1002/pd.70066. PMID: 41486082Free PMC Article

Recent clinical studies

Etiology

Germ nightmares.
New Sci 1994 Apr 9;142(1920):3. PMID: 11645776
Human gene therapy.
Anderson WF
Science 1992 May 8;256(5058):808-13. doi: 10.1126/science.1589762. PMID: 1589762
Cloning.
Trent RJ
Baillieres Clin Obstet Gynaecol 1991 Sep;5(3):659-73. doi: 10.1016/s0950-3552(05)80263-9. PMID: 1954733
Amniocentesis.
Loeffler FE
J R Soc Med 1979 Oct;72(10):715-6. doi: 10.1177/014107687907201001. PMID: 552426Free PMC Article
Syndrome designations.
Cohen MM Jr
J Med Genet 1976 Aug;13(4):266-70. doi: 10.1136/jmg.13.4.266. PMID: 957375Free PMC Article

Diagnosis

Pulmonary alveolar microlithiasis.
Kosciuk P, Meyer C, Wikenheiser-Brokamp KA, McCormack FX
Eur Respir Rev 2020 Dec 31;29(158) Epub 2020 Nov 27 doi: 10.1183/16000617.0024-2020. PMID: 33246992Free PMC Article
Genetics of hearing and deafness.
Angeli S, Lin X, Liu XZ
Anat Rec (Hoboken) 2012 Nov;295(11):1812-29. Epub 2012 Oct 8 doi: 10.1002/ar.22579. PMID: 23044516Free PMC Article
Ethics and reproduction.
Macnaughton M
Am J Obstet Gynecol 1990 Apr;162(4):879-82. doi: 10.1016/0002-9378(90)91287-m. PMID: 2327460
Fetal research.
Hansen JT, Sladek JR Jr
Science 1989 Nov 10;246(4931):775-9. doi: 10.1126/science.2683082. PMID: 2683082
Amniocentesis.
Loeffler FE
J R Soc Med 1979 Oct;72(10):715-6. doi: 10.1177/014107687907201001. PMID: 552426Free PMC Article

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
Ethical issues in human prion diseases.
Tabrizi SJ, Elliott CL, Weissmann C
Br Med Bull 2003;66:305-16. doi: 10.1093/bmb/66.1.305. PMID: 14522867
Human gene therapy.
Anderson WF
Science 1992 May 8;256(5058):808-13. doi: 10.1126/science.1589762. PMID: 1589762
Growth hormone deficiency.
Gunn I
Ann Clin Biochem 1987 Sep;24 ( Pt 5):429-34. doi: 10.1177/000456328702400501. PMID: 3310833
Amniocentesis.
Loeffler FE
J R Soc Med 1979 Oct;72(10):715-6. doi: 10.1177/014107687907201001. PMID: 552426Free PMC Article

Prognosis

Pulmonary alveolar microlithiasis: Blizzard of lung.
Mittal R, Kumar R, Srikanth JK, Yadav SR, Chandak R, Chakrabarti S
Monaldi Arch Chest Dis 2021 Jun 10;91(4) doi: 10.4081/monaldi.2021.1709. PMID: 34121375
Pulmonary alveolar microlithiasis.
Kosciuk P, Meyer C, Wikenheiser-Brokamp KA, McCormack FX
Eur Respir Rev 2020 Dec 31;29(158) Epub 2020 Nov 27 doi: 10.1183/16000617.0024-2020. PMID: 33246992Free PMC Article
Disease insights through cross-species phenotype comparisons.
Haendel MA, Vasilevsky N, Brush M, Hochheiser HS, Jacobsen J, Oellrich A, Mungall CJ, Washington N, Köhler S, Lewis SE, Robinson PN, Smedley D
Mamm Genome 2015 Oct;26(9-10):548-55. Epub 2015 Jun 20 doi: 10.1007/s00335-015-9577-8. PMID: 26092691Free PMC Article
Diverse epigenetic mechanisms of human disease.
Brookes E, Shi Y
Annu Rev Genet 2014;48:237-68. Epub 2014 Sep 5 doi: 10.1146/annurev-genet-120213-092518. PMID: 25195505
Orphan tests.
Biesecker LG
Camb Q Healthc Ethics 1996 Spring;5(2):300-6. doi: 10.1017/s0963180100007076. PMID: 8718739

Clinical prediction guides

DNA replication-associated inborn errors of immunity.
Willemsen M, Staels F, Gerbaux M, Neumann J, Schrijvers R, Meyts I, Humblet-Baron S, Liston A
J Allergy Clin Immunol 2023 Feb;151(2):345-360. Epub 2022 Nov 15 doi: 10.1016/j.jaci.2022.11.003. PMID: 36395985
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
Diverse epigenetic mechanisms of human disease.
Brookes E, Shi Y
Annu Rev Genet 2014;48:237-68. Epub 2014 Sep 5 doi: 10.1146/annurev-genet-120213-092518. PMID: 25195505
Imprinting and disease.
Walter J, Paulsen M
Semin Cell Dev Biol 2003 Feb;14(1):101-10. doi: 10.1016/s1084-9521(02)00142-8. PMID: 12524013
Orphan tests.
Biesecker LG
Camb Q Healthc Ethics 1996 Spring;5(2):300-6. doi: 10.1017/s0963180100007076. PMID: 8718739

Recent systematic reviews

Immune checkpoint inhibitor-induced isolated adrenocorticotropic hormone deficiency: a systematic review.
Wang F, Shi X, Yu X, Yang Y
Front Endocrinol (Lausanne) 2024;15:1326684. Epub 2024 Jan 22 doi: 10.3389/fendo.2024.1326684. PMID: 38318292Free PMC Article
Idiopathic isolated adrenocorticotropic hormone deficiency: a systematic review of a heterogeneous and underreported disease.
Van Mieghem E, De Block C, De Herdt C
Pituitary 2024 Feb;27(1):23-32. Epub 2023 Dec 27 doi: 10.1007/s11102-023-01366-9. PMID: 38151529
The metabolic role of prolactin: systematic review, meta-analysis and preclinical considerations.
Corona G, Rastrelli G, Comeglio P, Guaraldi F, Mazzatenta D, Sforza A, Vignozzi L, Maggi M
Expert Rev Endocrinol Metab 2022 Nov;17(6):533-545. Epub 2022 Nov 29 doi: 10.1080/17446651.2022.2144829. PMID: 36447418
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
Quality of life in rare genetic conditions: a systematic review of the literature.
Cohen JS, Biesecker BB
Am J Med Genet A 2010 May;152A(5):1136-56. doi: 10.1002/ajmg.a.33380. PMID: 20425818Free PMC Article

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    Related information

    • ClinVar
      Related medical variations
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
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