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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

Wollenberg A, Werfel T, Ring J, Ott H, Gieler U, Weidinger S
Dtsch Arztebl Int 2023 Mar 31;120(13):224-234. doi: 10.3238/arztebl.m2023.0011. PMID: 36747484Free PMC Article
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

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 de Santiago E, Albillos A
Rev Esp Cardiol (Engl Ed) 2018 Mar;71(3):192-202. Epub 2018 Feb 9 doi: 10.1016/j.rec.2017.10.052. PMID: 29433942
Saw J, Humphries K, Aymong E, Sedlak T, Prakash R, Starovoytov A, Mancini GBJ
J Am Coll Cardiol 2017 Aug 29;70(9):1148-1158. doi: 10.1016/j.jacc.2017.06.053. PMID: 28838364
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
Maguire AM, Simonelli F, Pierce EA, Pugh EN Jr, Mingozzi F, Bennicelli J, Banfi S, Marshall KA, Testa F, Surace EM, Rossi S, Lyubarsky A, Arruda VR, Konkle B, Stone E, Sun J, Jacobs J, Dell'Osso L, Hertle R, Ma JX, Redmond TM, Zhu X, Hauck B, Zelenaia O, Shindler KS, Maguire MG, Wright JF, Volpe NJ, McDonnell JW, Auricchio A, High KA, Bennett J
N Engl J Med 2008 May 22;358(21):2240-8. Epub 2008 Apr 27 doi: 10.1056/NEJMoa0802315. PMID: 18441370Free PMC Article

Prognosis

Broberg CS, van Dissel A, Minnier J, Aboulhosn J, Kauling RM, Ginde S, Krieger EV, Rodriguez F 3rd, Gupta T, Shah S, John AS, Cotts T, Kay WA, Kuo M, Dwight C, Woods P, Nicolarsen J, Sarubbi B, Fusco F, Antonova P, Fernandes S, Grewal J, Cramer J, Khairy P, Gallego P, O'Donnell C, Hannah J, Dellborg M, Rodriguez-Monserrate CP, Muhll IV, Pylypchuk S, Magalski A, Han F, Lubert AM, Kay J, Yeung E, Roos-Hesselink J, Baker D, Celermajer DS, Burchill LJ, Wilson WM, Wong J, Kutty S, Opotowsky AR
J Am Coll Cardiol 2022 Sep 6;80(10):951-963. doi: 10.1016/j.jacc.2022.06.020. PMID: 36049802
Cogné B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Nordenskjöld M, Shashi V, Gerkes EH, Bongers EMHF, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Stong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Holla ØL, Bedoukian E, Filippini F, Guimier A, Picard A, Busk ØL, Punetha J, Pfundt R, Lindstrand A, Nordgren A, Kalb F, Desai M, Ebanks AH, Jhangiani SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Song X, Toutain A, Wentzensen IM, Odent S, Bonneau D, Latypova X, Deb W; CAUSES Study, Redon S, Bilan F, Legendre M, Troyer C, Whitlock K, Caluseriu O, Murphree MI, Pichurin PN, Agre K, Gavrilova R, Rinne T, Park M, Shain C, Heinzen EL, Xiao R, Amiel J, Lyonnet S, Isidor B, Biesecker LG, Lowenstein D, Posey JE, Denommé-Pichon AS; Deciphering Developmental Disorders study, Férec C, Yang XJ, Rosenfeld JA, Gilbert-Dussardier B, Audebert-Bellanger S, Redon R, Stessman HAF, Nellaker C, Yang Y, Lupski JR, Goldstein DB, Eichler EE, Bolduc F, Bézieau S, Küry S, Campeau PM
Am J Hum Genet 2019 Mar 7;104(3):530-541. Epub 2019 Feb 28 doi: 10.1016/j.ajhg.2019.01.010. PMID: 30827496Free PMC Article
Saw J, Humphries K, Aymong E, Sedlak T, Prakash R, Starovoytov A, Mancini GBJ
J Am Coll Cardiol 2017 Aug 29;70(9):1148-1158. doi: 10.1016/j.jacc.2017.06.053. PMID: 28838364
Kieliszak CR, Pollinger TH, Tollefson MM, Griffin JR
J Am Acad Dermatol 2015 Jun;72(6):1066-73. Epub 2015 Apr 1 doi: 10.1016/j.jaad.2015.02.1100. PMID: 25840731
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

Clinical prediction guides

Cogné B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Nordenskjöld M, Shashi V, Gerkes EH, Bongers EMHF, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Stong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Holla ØL, Bedoukian E, Filippini F, Guimier A, Picard A, Busk ØL, Punetha J, Pfundt R, Lindstrand A, Nordgren A, Kalb F, Desai M, Ebanks AH, Jhangiani SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Song X, Toutain A, Wentzensen IM, Odent S, Bonneau D, Latypova X, Deb W; CAUSES Study, Redon S, Bilan F, Legendre M, Troyer C, Whitlock K, Caluseriu O, Murphree MI, Pichurin PN, Agre K, Gavrilova R, Rinne T, Park M, Shain C, Heinzen EL, Xiao R, Amiel J, Lyonnet S, Isidor B, Biesecker LG, Lowenstein D, Posey JE, Denommé-Pichon AS; Deciphering Developmental Disorders study, Férec C, Yang XJ, Rosenfeld JA, Gilbert-Dussardier B, Audebert-Bellanger S, Redon R, Stessman HAF, Nellaker C, Yang Y, Lupski JR, Goldstein DB, Eichler EE, Bolduc F, Bézieau S, Küry S, Campeau PM
Am J Hum Genet 2019 Mar 7;104(3):530-541. Epub 2019 Feb 28 doi: 10.1016/j.ajhg.2019.01.010. PMID: 30827496Free PMC Article
Ponziani FR, Bhoori S, Castelli C, Putignani L, Rivoltini L, Del Chierico F, Sanguinetti M, Morelli D, Paroni Sterbini F, Petito V, Reddel S, Calvani R, Camisaschi C, Picca A, Tuccitto A, Gasbarrini A, Pompili M, Mazzaferro V
Hepatology 2019 Jan;69(1):107-120. Epub 2018 Jul 10 doi: 10.1002/hep.30036. PMID: 29665135
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
Saw J, Humphries K, Aymong E, Sedlak T, Prakash R, Starovoytov A, Mancini GBJ
J Am Coll Cardiol 2017 Aug 29;70(9):1148-1158. doi: 10.1016/j.jacc.2017.06.053. PMID: 28838364
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
Elagib MFA, Alqaysi MAH, Almushayt MOS, Nagate RR, Gokhale ST, Chaturvedi S
Technol Health Care 2023;31(3):1051-1064. doi: 10.3233/THC-220581. PMID: 36502352
Huang W, Wu T, Jin T, Zhang Y, Wang J, Qi J, Li Y, Jiang H, Zhang J, Jiang Z, Chen L, Ying Z
Clin Rheumatol 2023 Mar;42(3):855-870. Epub 2022 Nov 11 doi: 10.1007/s10067-022-06436-0. PMID: 36357630
Van Batavia JP, Kolon TF
J Pediatr Urol 2016 Dec;12(6):418-425. Epub 2016 Nov 3 doi: 10.1016/j.jpurol.2016.09.015. PMID: 27856173
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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