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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

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
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
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

Wang HF
Pediatr Rheumatol Online J 2022 Feb 5;20(1):9. doi: 10.1186/s12969-022-00669-8. PMID: 35123508Free PMC Article
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
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
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
Camfield P, Camfield C
Epileptic Disord 2015 Jun;17(2):124-33. doi: 10.1684/epd.2015.0737. PMID: 25917466

Diagnosis

Amorim BDB, Azulay D, Ramos-E-Silva M
Skinmed 2021;19(3):179-185. Epub 2021 Jun 1 PMID: 34303387
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
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
Grob A, Grekin S
Cutis 2016 Feb;97(2):90-2. PMID: 26919497
Evans DG
Handb Clin Neurol 2015;132:87-96. doi: 10.1016/B978-0-444-62702-5.00005-6. PMID: 26564072

Therapy

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
Salussolia CL, Klonowska K, Kwiatkowski DJ, Sahin M
Annu Rev Genomics Hum Genet 2019 Aug 31;20:217-240. Epub 2019 Apr 24 doi: 10.1146/annurev-genom-083118-015354. PMID: 31018109
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
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
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

Prognosis

Touraine R, Hauet Q, Harzallah I, Baruteau AE
Arch Pediatr 2022 Dec;29(5S):5S3-5S7. doi: 10.1016/S0929-693X(22)00283-4. PMID: 36585068
Leimbach RD, Hoang TD, Shakir MKM
Oncology 2021;99(7):422-432. Epub 2021 Apr 20 doi: 10.1159/000515373. PMID: 33878761
Evans DG
Handb Clin Neurol 2015;132:87-96. doi: 10.1016/B978-0-444-62702-5.00005-6. PMID: 26564072
Camfield P, Camfield C
Epileptic Disord 2015 Jun;17(2):124-33. doi: 10.1684/epd.2015.0737. PMID: 25917466
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

Clinical prediction guides

Tsokolas G
Medicine (Baltimore) 2022 Sep 23;101(38):e30595. doi: 10.1097/MD.0000000000030595. PMID: 36197222Free PMC Article
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
Sharma J, Jindal AK, Banday AZ, Kaur A, Rawat A, Singh S, Longhurst H
Clin Rev Allergy Immunol 2021 Jun;60(3):305-315. Epub 2021 Jan 14 doi: 10.1007/s12016-021-08835-8. PMID: 33442779
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
Hebebrand M, Hüffmeier U, Trollmann R, Hehr U, Uebe S, Ekici AB, Kraus C, Krumbiegel M, Reis A, Thiel CT, Popp B
Orphanet J Rare Dis 2019 Feb 11;14(1):38. doi: 10.1186/s13023-019-1020-x. PMID: 30744660Free PMC Article

Recent systematic reviews

Taiwo FT, Adebayo PB
Brain Behav 2023 Jun;13(6):e3023. Epub 2023 May 11 doi: 10.1002/brb3.3023. PMID: 37165749Free PMC Article
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
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
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
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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