U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

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
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
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
Wallang BS, Das S
Eye (Lond) 2013 Sep;27(9):1004-12. Epub 2013 Jun 28 doi: 10.1038/eye.2013.130. PMID: 23807384Free PMC Article
Barra SN, Providência R, Paiva L, Nascimento J, Marques AL
Pacing Clin Electrophysiol 2012 Nov;35(11):1395-405. Epub 2012 Aug 16 doi: 10.1111/j.1540-8159.2012.03489.x. PMID: 22897386

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
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
Wallang BS, Das S
Eye (Lond) 2013 Sep;27(9):1004-12. Epub 2013 Jun 28 doi: 10.1038/eye.2013.130. PMID: 23807384Free PMC Article
Rowen JL
Semin Perinatol 2003 Oct;27(5):406-13. doi: 10.1016/s0146-0005(03)00066-1. PMID: 14626505
Jablonska S, Blaszczyk M
Semin Cutan Med Surg 1998 Mar;17(1):65-76. doi: 10.1016/s1085-5629(98)80064-3. PMID: 9512109

Therapy

Huybrechts KF, Bateman BT, Zhu Y, Straub L, Mogun H, Kim SC, Desai RJ, Hernandez-Diaz S
Am J Obstet Gynecol 2021 Mar;224(3):290.e1-290.e22. Epub 2020 Sep 19 doi: 10.1016/j.ajog.2020.09.007. PMID: 32961123Free PMC Article
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
O'Donnell AE
Chest 2008 Oct;134(4):815-823. doi: 10.1378/chest.08-0776. PMID: 18842914
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

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
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
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
Welte K, Zeidler C, Dale DC
Semin Hematol 2006 Jul;43(3):189-95. doi: 10.1053/j.seminhematol.2006.04.004. PMID: 16822461

Clinical prediction guides

Huybrechts KF, Bateman BT, Zhu Y, Straub L, Mogun H, Kim SC, Desai RJ, Hernandez-Diaz S
Am J Obstet Gynecol 2021 Mar;224(3):290.e1-290.e22. Epub 2020 Sep 19 doi: 10.1016/j.ajog.2020.09.007. PMID: 32961123Free PMC Article
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
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

Cifuentes-González C, Rojas-Carabali W, Pérez ÁO, Carvalho É, Valenzuela F, Miguel-Escuder L, Ormaechea MS, Heredia M, Baquero-Ospina P, Adan A, Curi A, Schlaen A, Urzua CA, Couto C, Arellanes L, de-la-Torre A
PLoS One 2023;18(4):e0283845. Epub 2023 Apr 3 doi: 10.1371/journal.pone.0283845. PMID: 37011101Free PMC Article
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
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

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...