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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

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
Karimzadeh I, Namazi MR, Karimzadeh A
Acta Dermatovenerol Croat 2018 Jun;26(2):162-165. PMID: 29989874
Doshi DC, Limdi PK, Parekh NV, Gohil NR
Indian J Ophthalmol 2016 Mar;64(3):227-30. doi: 10.4103/0301-4738.180191. PMID: 27146935Free PMC Article
Jozefowicz RF, Griggs RC
Neurol Clin 1988 Aug;6(3):455-72. PMID: 3065594

Therapy

Saade J, Mestre TA
Curr Neurol Neurosci Rep 2024 Aug;24(8):255-264. Epub 2024 Jun 11 doi: 10.1007/s11910-024-01345-y. PMID: 38861215
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
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
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
Kerr HD
J Rheumatol 1988 Feb;15(2):359-61. PMID: 3361545

Prognosis

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
Camfield P, Camfield C
Epileptic Disord 2015 Jun;17(2):124-33. doi: 10.1684/epd.2015.0737. PMID: 25917466
Frank M, Albuisson J, Ranque B, Golmard L, Mazzella JM, Bal-Theoleyre L, Fauret AL, Mirault T, Denarié N, Mousseaux E, Boutouyrie P, Fiessinger JN, Emmerich J, Messas E, Jeunemaitre X
Eur J Hum Genet 2015 Dec;23(12):1657-64. Epub 2015 Mar 11 doi: 10.1038/ejhg.2015.32. PMID: 25758994Free PMC Article
Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, Benaiche A, Isnard R, Dubourg O, Burban M, Gueffet JP, Millaire A, Desnos M, Schwartz K, Hainque B, Komajda M; EUROGENE Heart Failure Project
Circulation 2003 May 6;107(17):2227-32. Epub 2003 Apr 21 doi: 10.1161/01.CIR.0000066323.15244.54. PMID: 12707239
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

Clinical prediction guides

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
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
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
Camfield P, Camfield C
Epileptic Disord 2015 Jun;17(2):124-33. doi: 10.1684/epd.2015.0737. PMID: 25917466
Fuleihan Gel-H
J Bone Miner Res 2002 Nov;17 Suppl 2:N51-6. PMID: 12412778

Recent systematic reviews

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
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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