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Autosomal Dominant Disorder

MedGen UID:
859583
•Concept ID:
C3899989
•
Disease or Syndrome

Definition

An inherited disorder that manifests when one copy of a mutated gene is present. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAutosomal Dominant Disorder

Professional guidelines

PubMed

Alagille Syndrome: A Focused Review on Clinical Features, Genetics, and Treatment.
Kohut TJ, Gilbert MA, Loomes KM
Semin Liver Dis 2021 Nov;41(4):525-537. Epub 2021 Jul 2 doi: 10.1055/s-0041-1730951. PMID: 34215014
Alport Syndrome: Achieving Early Diagnosis and Treatment.
Kashtan CE
Am J Kidney Dis 2021 Feb;77(2):272-279. Epub 2020 Jul 22 doi: 10.1053/j.ajkd.2020.03.026. PMID: 32712016
Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1).
Thakker RV, Newey PJ, Walls GV, Bilezikian J, Dralle H, Ebeling PR, Melmed S, Sakurai A, Tonelli F, Brandi ML; Endocrine Society
J Clin Endocrinol Metab 2012 Sep;97(9):2990-3011. Epub 2012 Jun 20 doi: 10.1210/jc.2012-1230. PMID: 22723327

Recent clinical studies

Etiology

NLRP12-associated systemic autoinflammatory diseases in children.
Wang HF
Pediatr Rheumatol Online J 2022 Feb 5;20(1):9. doi: 10.1186/s12969-022-00669-8. PMID: 35123508Free PMC Article
Clinical experience with non-invasive prenatal screening for single-gene disorders.
Mohan P, Lemoine J, Trotter C, Rakova I, Billings P, Peacock S, Kao CY, Wang Y, Xia F, Eng CM, Benn P
Ultrasound Obstet Gynecol 2022 Jan;59(1):33-39. doi: 10.1002/uog.23756. PMID: 34358384Free PMC Article
Alport Syndrome: Achieving Early Diagnosis and Treatment.
Kashtan CE
Am J Kidney Dis 2021 Feb;77(2):272-279. Epub 2020 Jul 22 doi: 10.1053/j.ajkd.2020.03.026. PMID: 32712016
Neurofibromatosis Type 2.
Ardern-Holmes S, Fisher G, North K
J Child Neurol 2017 Jan;32(1):9-22. Epub 2016 Sep 29 doi: 10.1177/0883073816666736. PMID: 27655473
Febrile seizures and genetic epilepsy with febrile seizures plus (GEFS+).
Camfield P, Camfield C
Epileptic Disord 2015 Jun;17(2):124-33. doi: 10.1684/epd.2015.0737. PMID: 25917466

Diagnosis

Tuberous Sclerosis.
Amorim BDB, Azulay D, Ramos-E-Silva M
Skinmed 2021;19(3):179-185. Epub 2021 Jun 1 PMID: 34303387
Alagille Syndrome: A Focused Review on Clinical Features, Genetics, and Treatment.
Kohut TJ, Gilbert MA, Loomes KM
Semin Liver Dis 2021 Nov;41(4):525-537. Epub 2021 Jul 2 doi: 10.1055/s-0041-1730951. PMID: 34215014
Alagille Syndrome.
Mitchell E, Gilbert M, Loomes KM
Clin Liver Dis 2018 Nov;22(4):625-641. Epub 2018 Aug 22 doi: 10.1016/j.cld.2018.06.001. PMID: 30266153
Neurofibromatosis type 2.
Evans DG
Handb Clin Neurol 2015;132:87-96. doi: 10.1016/B978-0-444-62702-5.00005-6. PMID: 26564072
Myotonic dystrophy.
Jozefowicz RF, Griggs RC
Neurol Clin 1988 Aug;6(3):455-72. PMID: 3065594

Therapy

Alport Syndrome: Achieving Early Diagnosis and Treatment.
Kashtan CE
Am J Kidney Dis 2021 Feb;77(2):272-279. Epub 2020 Jul 22 doi: 10.1053/j.ajkd.2020.03.026. PMID: 32712016
Hereditary hemorrhagic telangiectasia: diagnosis and management from the hematologist's perspective.
Kritharis A, Al-Samkari H, Kuter DJ
Haematologica 2018 Sep;103(9):1433-1443. Epub 2018 May 24 doi: 10.3324/haematol.2018.193003. PMID: 29794143Free PMC Article
Tuberous sclerosis complex.
Henske EP, Jóźwiak S, Kingswood JC, Sampson JR, Thiele EA
Nat Rev Dis Primers 2016 May 26;2:16035. doi: 10.1038/nrdp.2016.35. PMID: 27226234
Severe congenital neutropenia.
Welte K, Zeidler C, Dale DC
Semin Hematol 2006 Jul;43(3):189-95. doi: 10.1053/j.seminhematol.2006.04.004. PMID: 16822461
Erythropoietic protoporphyria.
Todd DJ
Br J Dermatol 1994 Dec;131(6):751-66. doi: 10.1111/j.1365-2133.1994.tb08577.x. PMID: 7857832

Prognosis

Updated Genotype-Phenotype Correlations in TSC.
Curatolo P, Trivisano M, Specchio N
Semin Pediatr Neurol 2023 Oct;47:101086. Epub 2023 Sep 18 doi: 10.1016/j.spen.2023.101086. PMID: 37919037
Neurofibromatosis type 2.
Evans DG
Handb Clin Neurol 2015;132:87-96. doi: 10.1016/B978-0-444-62702-5.00005-6. PMID: 26564072
Febrile seizures and genetic epilepsy with febrile seizures plus (GEFS+).
Camfield P, Camfield C
Epileptic Disord 2015 Jun;17(2):124-33. doi: 10.1684/epd.2015.0737. PMID: 25917466
Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.
Jones AC, Shyamsundar MM, Thomas MW, Maynard J, Idziaszczyk S, Tomkins S, Sampson JR, Cheadle JP
Am J Hum Genet 1999 May;64(5):1305-15. doi: 10.1086/302381. PMID: 10205261Free PMC Article
Ocular coloboma.
Pagon RA
Surv Ophthalmol 1981 Jan-Feb;25(4):223-36. doi: 10.1016/0039-6257(81)90092-8. PMID: 6782689

Clinical prediction guides

Stratification in Heterozygous Familial Hypercholesterolemia: Imaging, Biomarkers, and Genetic Testing.
Corral P, Aguilar Salinas CA, Matta MG, Zago V, Schreier L
Curr Atheroscler Rep 2023 Dec;25(12):899-909. Epub 2023 Nov 3 doi: 10.1007/s11883-023-01160-9. PMID: 37921916
Evolution of genetic testing and gene therapy in hypertrophic cardiomyopathy.
Chiswell K, Zaininger L, Semsarian C
Prog Cardiovasc Dis 2023 Sep-Oct;80:38-45. Epub 2023 May 1 doi: 10.1016/j.pcad.2023.04.009. PMID: 37137376
Clinical experience with non-invasive prenatal screening for single-gene disorders.
Mohan P, Lemoine J, Trotter C, Rakova I, Billings P, Peacock S, Kao CY, Wang Y, Xia F, Eng CM, Benn P
Ultrasound Obstet Gynecol 2022 Jan;59(1):33-39. doi: 10.1002/uog.23756. PMID: 34358384Free PMC Article
Neuroimaging in tuberous sclerosis complex.
Russo C, Nastro A, Cicala D, De Liso M, Covelli EM, Cinalli G
Childs Nerv Syst 2020 Oct;36(10):2497-2509. Epub 2020 Jun 9 doi: 10.1007/s00381-020-04705-4. PMID: 32519125
Febrile seizures and genetic epilepsy with febrile seizures plus (GEFS+).
Camfield P, Camfield C
Epileptic Disord 2015 Jun;17(2):124-33. doi: 10.1684/epd.2015.0737. PMID: 25917466

Recent systematic reviews

Neuroimaging findings in DYT1 dystonia and the pathophysiological implication: A systematic review.
Taiwo FT, Adebayo PB
Brain Behav 2023 Jun;13(6):e3023. Epub 2023 May 11 doi: 10.1002/brb3.3023. PMID: 37165749Free PMC Article
Protein Phosphorylation Alterations in Myotonic Dystrophy Type 1: A Systematic Review.
Costa A, Cruz AC, Martins F, Rebelo S
Int J Mol Sci 2023 Feb 4;24(4) doi: 10.3390/ijms24043091. PMID: 36834509Free PMC Article
Delineating Wolfram-like syndrome: A systematic review and discussion of the WFS1-associated disease spectrum.
de Muijnck C, Brink JBT, Bergen AA, Boon CJF, van Genderen MM
Surv Ophthalmol 2023 Jul-Aug;68(4):641-654. Epub 2023 Feb 9 doi: 10.1016/j.survophthal.2023.01.012. PMID: 36764396
The endovascular management of neurofibromatosis-associated aneurysms: A systematic review.
Bargiela D, Verkerk MM, Wee I, Welman K, Ng E, Choong AMTL
Eur J Radiol 2018 Mar;100:66-75. Epub 2017 Dec 23 doi: 10.1016/j.ejrad.2017.12.014. PMID: 29496081
Myotonic dystrophy and the heart: A systematic review of evaluation and management.
Lau JK, Sy RW, Corbett A, Kritharides L
Int J Cardiol 2015 Apr 1;184:600-608. Epub 2015 Mar 5 doi: 10.1016/j.ijcard.2015.03.069. PMID: 25769007

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