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Congenital Systemic Disorder

MedGen UID:
474891
Concept ID:
C3273258
Congenital Abnormality

Definition

An inherited disorder that presents with systemic manifestations. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital Systemic Disorder

Professional guidelines

PubMed

Keser G, Aksu K
Rheumatol Int 2019 Feb;39(2):169-185. Epub 2018 Sep 17 doi: 10.1007/s00296-018-4157-3. PMID: 30221327
Konstam MA, Kiernan MS, Bernstein D, Bozkurt B, Jacob M, Kapur NK, Kociol RD, Lewis EF, Mehra MR, Pagani FD, Raval AN, Ward C; American Heart Association Council on Clinical Cardiology; Council on Cardiovascular Disease in the Young; and Council on Cardiovascular Surgery and Anesthesia
Circulation 2018 May 15;137(20):e578-e622. Epub 2018 Apr 12 doi: 10.1161/CIR.0000000000000560. PMID: 29650544
Couser WG
Clin J Am Soc Nephrol 2017 Jun 7;12(6):983-997. Epub 2017 May 26 doi: 10.2215/CJN.11761116. PMID: 28550082Free PMC Article

Recent clinical studies

Etiology

Atwell K, Michael W, Dubey J, James S, Martonffy A, Anderson S, Rudin N, Schrager S
J Am Board Fam Med 2021 Jul-Aug;34(4):838-848. doi: 10.3122/jabfm.2021.04.200374. PMID: 34312277
Smith RJ, Rubin AI
Curr Opin Pediatr 2020 Aug;32(4):506-515. doi: 10.1097/MOP.0000000000000921. PMID: 32692049
Douillard C, Jannin A, Vantyghem MC
Ann Endocrinol (Paris) 2020 Jun;81(2-3):110-117. Epub 2020 Apr 10 doi: 10.1016/j.ando.2020.04.003. PMID: 32409005
Téllez L, Rodríguez-Santiago E, Albillos A
Ann Hepatol 2018 Mar 1;17(2):192-204. doi: 10.5604/01.3001.0010.8634. PMID: 29469053
Miner JJ, Kim AH
Rheum Dis Clin North Am 2014 Feb;40(1):51-60. doi: 10.1016/j.rdc.2013.10.003. PMID: 24268009

Diagnosis

Atwell K, Michael W, Dubey J, James S, Martonffy A, Anderson S, Rudin N, Schrager S
J Am Board Fam Med 2021 Jul-Aug;34(4):838-848. doi: 10.3122/jabfm.2021.04.200374. PMID: 34312277
Taylan Şekeroğlu H, Utine GE
Turk J Ophthalmol 2021 Apr 29;51(2):107-113. doi: 10.4274/tjo.galenos.2020.08377. PMID: 33951899Free PMC Article
Derdulska JM, Rudnicka L, Szykut-Badaczewska A, Mehrholz D, Nowicki RJ, Barańska-Rybak W, Wilkowska A
J Perinat Med 2021 Jun 25;49(5):529-538. Epub 2021 Jan 18 doi: 10.1515/jpm-2020-0543. PMID: 33470961
Barrios K, Patiño O, Muñoz N, Moneriz C
Biomedica 2020 Sep 1;40(3):464-471. doi: 10.7705/biomedica.5150. PMID: 33030824Free PMC Article
Kelly A, McCarthy C
Semin Respir Crit Care Med 2020 Apr;41(2):288-298. Epub 2020 Apr 12 doi: 10.1055/s-0039-3402727. PMID: 32279299

Therapy

Kelly A, McCarthy C
Semin Respir Crit Care Med 2020 Apr;41(2):288-298. Epub 2020 Apr 12 doi: 10.1055/s-0039-3402727. PMID: 32279299
Téllez L, Rodríguez-Santiago E, Albillos A
Ann Hepatol 2018 Mar 1;17(2):192-204. doi: 10.5604/01.3001.0010.8634. PMID: 29469053
Beck-Peccoz P, Rodari G, Giavoli C, Lania A
Nat Rev Endocrinol 2017 Oct;13(10):588-598. Epub 2017 May 26 doi: 10.1038/nrendo.2017.47. PMID: 28549061
Lateef A, Petri M
Rheum Dis Clin North Am 2017 May;43(2):215-226. Epub 2017 Mar 14 doi: 10.1016/j.rdc.2016.12.009. PMID: 28390564
Gutiérrez-González LA
Clin Rheumatol 2015 Dec;34(12):2011-9. Epub 2015 Jun 24 doi: 10.1007/s10067-015-2994-y. PMID: 26099604Free PMC Article

Prognosis

Taylan Şekeroğlu H, Utine GE
Turk J Ophthalmol 2021 Apr 29;51(2):107-113. doi: 10.4274/tjo.galenos.2020.08377. PMID: 33951899Free PMC Article
Barrios K, Patiño O, Muñoz N, Moneriz C
Biomedica 2020 Sep 1;40(3):464-471. doi: 10.7705/biomedica.5150. PMID: 33030824Free PMC Article
Gupta S, Gupta N
Perm J 2017;21:16-047. Epub 2016 Nov 9 doi: 10.7812/TPP/16-047. PMID: 28080954Free PMC Article
Ivy DD, Abman SH, Barst RJ, Berger RM, Bonnet D, Fleming TR, Haworth SG, Raj JU, Rosenzweig EB, Schulze Neick I, Steinhorn RH, Beghetti M
J Am Coll Cardiol 2013 Dec 24;62(25 Suppl):D117-26. doi: 10.1016/j.jacc.2013.10.028. PMID: 24355636
Warnes CA
Circulation 2006 Dec 12;114(24):2699-709. doi: 10.1161/CIRCULATIONAHA.105.592352. PMID: 17159076

Clinical prediction guides

Taylan Şekeroğlu H, Utine GE
Turk J Ophthalmol 2021 Apr 29;51(2):107-113. doi: 10.4274/tjo.galenos.2020.08377. PMID: 33951899Free PMC Article
Petrucci I, Clementi A, Sessa C, Torrisi I, Meola M
J Nephrol 2018 Dec;31(6):863-879. Epub 2018 Sep 6 doi: 10.1007/s40620-018-0531-1. PMID: 30191413
Hayes SN, Kim ESH, Saw J, Adlam D, Arslanian-Engoren C, Economy KE, Ganesh SK, Gulati R, Lindsay ME, Mieres JH, Naderi S, Shah S, Thaler DE, Tweet MS, Wood MJ; American Heart Association Council on Peripheral Vascular Disease; Council on Clinical Cardiology; Council on Cardiovascular and Stroke Nursing; Council on Genomic and Precision Medicine; and Stroke Council
Circulation 2018 May 8;137(19):e523-e557. Epub 2018 Feb 22 doi: 10.1161/CIR.0000000000000564. PMID: 29472380Free PMC Article
Beck-Peccoz P, Rodari G, Giavoli C, Lania A
Nat Rev Endocrinol 2017 Oct;13(10):588-598. Epub 2017 May 26 doi: 10.1038/nrendo.2017.47. PMID: 28549061
Miner JJ, Kim AH
Rheum Dis Clin North Am 2014 Feb;40(1):51-60. doi: 10.1016/j.rdc.2013.10.003. PMID: 24268009

Recent systematic reviews

Zou T, Wei A, Ma H, Lian H, Liu Y, Wang D, Zhao Y, Cui L, Li Z, Zhang R, Wang T
Pediatr Blood Cancer 2023 May;70(5):e30232. Epub 2023 Feb 13 doi: 10.1002/pbc.30232. PMID: 36779547
Brasil S, Allocca M, Magrinho SCM, Santos I, Raposo M, Francisco R, Pascoal C, Martins T, Videira PA, Pereira F, Andreotti G, Jaeken J, Kantautas KA, Perlstein EO, Ferreira VDR
Int J Mol Sci 2022 Aug 5;23(15) doi: 10.3390/ijms23158725. PMID: 35955863Free PMC Article
Nascimento RB, Araujo NS, Silva JC, Xavier FCA
Spec Care Dentist 2022 May;42(3):266-280. Epub 2021 Nov 18 doi: 10.1111/scd.12669. PMID: 34792813Free PMC Article
Esteve-Valverde E, Ferrer-Oliveras R, Gil-Aliberas N, Baraldès-Farré A, Llurba E, Alijotas-Reig J
Obstet Gynecol Surv 2018 Jan;73(1):40-55. doi: 10.1097/OGX.0000000000000522. PMID: 29368790
Matthews TJ, Trochsler MI, Bridgewater FH, Maddern GJ
Br J Surg 2014 Nov;101(12):1509-17. Epub 2014 Sep 9 doi: 10.1002/bjs.9619. PMID: 25200002

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