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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

Current perspectives of sudden cardiac death management in hypertrophic cardiomyopathy.
Pu L, Li J, Qi W, Zhang J, Chen H, Tang Z, Han Y, Wang J, Chen Y
Heart Fail Rev 2024 Mar;29(2):395-404. Epub 2023 Oct 22 doi: 10.1007/s10741-023-10355-w. PMID: 37865929
Basal cell nevus syndrome: an update on clinical findings.
Fernández LT, Ocampo-Garza SS, Elizondo-Riojas G, Ocampo-Candiani J
Int J Dermatol 2022 Sep;61(9):1047-1055. Epub 2021 Sep 8 doi: 10.1111/ijd.15884. PMID: 34494262
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
Familial hypercholesterolemia: Detect, treat, and ask about family.
Shah NP, Ahmed HM, Wilson Tang WH
Cleve Clin J Med 2020 Feb;87(2):109-120. doi: 10.3949/ccjm.87a.19021. PMID: 32015064
Buschke-Ollendorff syndrome.
Hassikou H, Tabache F, Safi S, Baaj M, Hadri L
Joint Bone Spine 2008 Mar;75(2):212-4. Epub 2008 Mar 3 doi: 10.1016/j.jbspin.2007.04.027. PMID: 18313966

Diagnosis

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
Hereditary haemorrhagic telangiectasia.
Sharathkumar AA, Shapiro A
Haemophilia 2008 Nov;14(6):1269-80. doi: 10.1111/j.1365-2516.2008.01774.x. PMID: 19141168
Townes-Brocks syndrome.
Powell CM, Michaelis RC
J Med Genet 1999 Feb;36(2):89-93. PMID: 10051003Free PMC Article
Branchio-oto-renal syndrome.
Smith RJ, Schwartz C
J Commun Disord 1998 Sep-Oct;31(5):411-20; quiz 421. doi: 10.1016/s0021-9924(98)00013-6. PMID: 9777487

Therapy

Current perspectives of sudden cardiac death management in hypertrophic cardiomyopathy.
Pu L, Li J, Qi W, Zhang J, Chen H, Tang Z, Han Y, Wang J, Chen Y
Heart Fail Rev 2024 Mar;29(2):395-404. Epub 2023 Oct 22 doi: 10.1007/s10741-023-10355-w. PMID: 37865929
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
Familial hypercholesterolemia: Detect, treat, and ask about family.
Shah NP, Ahmed HM, Wilson Tang WH
Cleve Clin J Med 2020 Feb;87(2):109-120. doi: 10.3949/ccjm.87a.19021. PMID: 32015064
Hereditary angioedema.
Sachse MM, Khachemoune A, Guldbakke KK, Kirschfink M
J Drugs Dermatol 2006 Oct;5(9):848-52. PMID: 17039649
Cleidocranial dysplasia.
Kerr HD
J Rheumatol 1988 Feb;15(2):359-61. PMID: 3361545

Prognosis

Current perspectives of sudden cardiac death management in hypertrophic cardiomyopathy.
Pu L, Li J, Qi W, Zhang J, Chen H, Tang Z, Han Y, Wang J, Chen Y
Heart Fail Rev 2024 Mar;29(2):395-404. Epub 2023 Oct 22 doi: 10.1007/s10741-023-10355-w. PMID: 37865929
Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex.
Hoogeveen-Westerveld M, Ekong R, Povey S, Mayer K, Lannoy N, Elmslie F, Bebin M, Dies K, Thompson C, Sparagana SP, Davies P, van Eeghen AM, Thiele EA, van den Ouweland A, Halley D, Nellist M
Hum Mutat 2013 Jan;34(1):167-75. Epub 2012 Oct 11 doi: 10.1002/humu.22202. PMID: 22903760
Branchio-oto-renal syndrome.
Rodríguez Soriano J
J Nephrol 2003 Jul-Aug;16(4):603-5. PMID: 14696767
Costello syndrome: an overview.
Hennekam RC
Am J Med Genet C Semin Med Genet 2003 Feb 15;117C(1):42-8. doi: 10.1002/ajmg.c.10019. PMID: 12561057
Neurofibromatosis type 2.
Evans DG, Sainio M, Baser ME
J Med Genet 2000 Dec;37(12):897-904. doi: 10.1136/jmg.37.12.897. PMID: 11106352Free PMC Article

Clinical prediction guides

Generation of a familial hypercholesterolemia model in non-human primate.
Sato A, Tsukiyama T, Komeno M, Iwatani C, Tsuchiya H, Kawamoto I, Murase M, Nakagawa T, Itagaki I, Seita Y, Matsumoto S, Nakaya M, Shimizu A, Yamada A, Ema M, Ogita H
Sci Rep 2023 Sep 20;13(1):15649. doi: 10.1038/s41598-023-42763-1. PMID: 37730951Free PMC Article
In Silico Analysis of Huntingtin Homologs in Lower Eukaryotes.
Brandi V, Polticelli F
Int J Mol Sci 2021 Mar 22;22(6) doi: 10.3390/ijms22063214. PMID: 33809947Free 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
Phenotype-Genotype Correlation in Children with Neurofibromatosis Type 1.
Barrea C, Vaessen S, Bulk S, Harvengt J, Misson JP
Neuropediatrics 2018 Jun;49(3):180-184. Epub 2018 Feb 22 doi: 10.1055/s-0037-1620239. PMID: 29471550
Expanding phenotypic spectrum of familial comedones.
Rerknimitr P, Korkij W, Wititsuwannakul J, Panmontha W, Suphapeetiporn K, Shotelersuk V
Dermatology 2014;228(3):215-9. Epub 2014 May 6 doi: 10.1159/000358170. PMID: 24818872

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
Statins for children with familial hypercholesterolemia.
Vuorio A, Kuoppala J, Kovanen PT, Humphries SE, Tonstad S, Wiegman A, Drogari E, Ramaswami U
Cochrane Database Syst Rev 2017 Jul 7;7(7):CD006401. doi: 10.1002/14651858.CD006401.pub4. PMID: 28685504Free PMC Article
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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