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Syndromic disease

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
Synonyms: Cluster, Symptom; Clusters, Symptom; Symptom Cluster; Symptom Clusters; Syndrome; Syndromes
SNOMED CT: Syndrome (64572001)
 
Monarch Initiative: MONDO:0002254

Definition

A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Syndromic disease

Professional guidelines

PubMed

Fayand A, Hentgen V, Posseme C, Lacout C, Picard C, Moguelet P, Cescato M, Sbeih N, Moreau TRJ, Zhu YYJ, Charuel JL, Corneau A, Deibener-Kaminsky J, Dupuy S, Fusaro M, Hoareau B, Hovnanian A, Langlois V, Le Corre L, Maciel TT, Miskinyte S, Miyara M, Moulinet T, Perret M, Schuhmacher MH, Rignault-Bricard R, Viel S, Vinit A, Soria A, Duffy D, Launay JM, Callebert J, Herbeuval JP, Rodero MP, Georgin-Lavialle S
J Allergy Clin Immunol 2023 Oct;152(4):972-983. Epub 2023 Jun 19 doi: 10.1016/j.jaci.2023.06.004. PMID: 37343845
Azabdaftari A, Sczakiel HL, Danyel M, Kohlmaier B, Mache CJ, Stalke A, Pfister ED, Thumfart J, Henning S, Knisely AS, Bufler P
Liver Int 2023 May;43(5):1089-1095. Epub 2023 Mar 27 doi: 10.1111/liv.15563. PMID: 36938759
Liverani C, Spadazzi C, Ibrahim T, Pieri F, Foca F, Calabrese C, De Vita A, Miserocchi G, Cocchi C, Vanni S, Ercolani G, Cavaliere D, Ranallo N, Chiadini E, Prisinzano G, Severi S, Sansovini M, Martinelli G, Bongiovanni A, Mercatali L
Front Endocrinol (Lausanne) 2022;13:1045038. Epub 2023 Jan 20 doi: 10.3389/fendo.2022.1045038. PMID: 36743926Free PMC Article

Recent clinical studies

Etiology

Liverani C, Spadazzi C, Ibrahim T, Pieri F, Foca F, Calabrese C, De Vita A, Miserocchi G, Cocchi C, Vanni S, Ercolani G, Cavaliere D, Ranallo N, Chiadini E, Prisinzano G, Severi S, Sansovini M, Martinelli G, Bongiovanni A, Mercatali L
Front Endocrinol (Lausanne) 2022;13:1045038. Epub 2023 Jan 20 doi: 10.3389/fendo.2022.1045038. PMID: 36743926Free PMC Article
Jiang X, Mahroo OA
Eye (Lond) 2021 Sep;35(9):2419-2437. Epub 2021 Jun 14 doi: 10.1038/s41433-021-01604-z. PMID: 34127841Free PMC Article
Bassanese G, Wlodkowski T, Servais A, Heidet L, Roccatello D, Emma F, Levtchenko E, Ariceta G, Bacchetta J, Capasso G, Jankauskiene A, Miglinas M, Ferraro PM, Montini G, Oh J, Decramer S, Levart TK, Wetzels J, Cornelissen E, Devuyst O, Zurowska A, Pape L, Buescher A, Haffner D, Marcun Varda N, Ghiggeri GM, Remuzzi G, Konrad M, Longo G, Bockenhauer D, Awan A, Andersone I, Groothoff JW, Schaefer F
Orphanet J Rare Dis 2021 Jun 2;16(1):251. doi: 10.1186/s13023-021-01872-8. PMID: 34078418Free PMC Article
Wada R, Arai H, Kure S, Peng WX, Naito Z
Pathol Int 2016 Aug;66(8):431-7. Epub 2016 Jul 18 doi: 10.1111/pin.12431. PMID: 27427238
Hershberger RE, Hedges DJ, Morales A
Nat Rev Cardiol 2013 Sep;10(9):531-47. Epub 2013 Jul 30 doi: 10.1038/nrcardio.2013.105. PMID: 23900355

Diagnosis

Plaud Gonzalez AM, Joseph C, Stover SR, Nassr A, Koh CJ, Angelo JR, Braun MC
Kidney360 2023 Mar 1;4(3):333-340. doi: 10.34067/KID.0004782022. PMID: 36996300Free PMC Article
Jiang X, Mahroo OA
Eye (Lond) 2021 Sep;35(9):2419-2437. Epub 2021 Jun 14 doi: 10.1038/s41433-021-01604-z. PMID: 34127841Free PMC Article
Bassanese G, Wlodkowski T, Servais A, Heidet L, Roccatello D, Emma F, Levtchenko E, Ariceta G, Bacchetta J, Capasso G, Jankauskiene A, Miglinas M, Ferraro PM, Montini G, Oh J, Decramer S, Levart TK, Wetzels J, Cornelissen E, Devuyst O, Zurowska A, Pape L, Buescher A, Haffner D, Marcun Varda N, Ghiggeri GM, Remuzzi G, Konrad M, Longo G, Bockenhauer D, Awan A, Andersone I, Groothoff JW, Schaefer F
Orphanet J Rare Dis 2021 Jun 2;16(1):251. doi: 10.1186/s13023-021-01872-8. PMID: 34078418Free PMC Article
Hsieh ST, Woo AS
Clin Plast Surg 2019 Apr;46(2):249-259. Epub 2019 Feb 8 doi: 10.1016/j.cps.2018.11.010. PMID: 30851756
Wada R, Arai H, Kure S, Peng WX, Naito Z
Pathol Int 2016 Aug;66(8):431-7. Epub 2016 Jul 18 doi: 10.1111/pin.12431. PMID: 27427238

Therapy

Fayand A, Hentgen V, Posseme C, Lacout C, Picard C, Moguelet P, Cescato M, Sbeih N, Moreau TRJ, Zhu YYJ, Charuel JL, Corneau A, Deibener-Kaminsky J, Dupuy S, Fusaro M, Hoareau B, Hovnanian A, Langlois V, Le Corre L, Maciel TT, Miskinyte S, Miyara M, Moulinet T, Perret M, Schuhmacher MH, Rignault-Bricard R, Viel S, Vinit A, Soria A, Duffy D, Launay JM, Callebert J, Herbeuval JP, Rodero MP, Georgin-Lavialle S
J Allergy Clin Immunol 2023 Oct;152(4):972-983. Epub 2023 Jun 19 doi: 10.1016/j.jaci.2023.06.004. PMID: 37343845
Liverani C, Spadazzi C, Ibrahim T, Pieri F, Foca F, Calabrese C, De Vita A, Miserocchi G, Cocchi C, Vanni S, Ercolani G, Cavaliere D, Ranallo N, Chiadini E, Prisinzano G, Severi S, Sansovini M, Martinelli G, Bongiovanni A, Mercatali L
Front Endocrinol (Lausanne) 2022;13:1045038. Epub 2023 Jan 20 doi: 10.3389/fendo.2022.1045038. PMID: 36743926Free PMC Article
Garcovich S, De Simone C, Berti E, Marzano AV
Expert Rev Clin Pharmacol 2017 Oct;10(10):1119-1128. Epub 2017 Jul 27 doi: 10.1080/17512433.2017.1356719. PMID: 28715916
Kerola A, Lampela H, Lohi J, Heikkilä P, Mutanen A, Jalanko H, Pakarinen MP
Surgery 2017 Sep;162(3):548-556. Epub 2017 Jun 24 doi: 10.1016/j.surg.2017.04.013. PMID: 28655415
Schiavetti A, Altavista P, De Luca L, Andreoli G, Megaro G, Versacci P
Pediatr Blood Cancer 2015 Sep;62(9):1637-44. Epub 2015 Apr 20 doi: 10.1002/pbc.25558. PMID: 25893525

Prognosis

Liverani C, Spadazzi C, Ibrahim T, Pieri F, Foca F, Calabrese C, De Vita A, Miserocchi G, Cocchi C, Vanni S, Ercolani G, Cavaliere D, Ranallo N, Chiadini E, Prisinzano G, Severi S, Sansovini M, Martinelli G, Bongiovanni A, Mercatali L
Front Endocrinol (Lausanne) 2022;13:1045038. Epub 2023 Jan 20 doi: 10.3389/fendo.2022.1045038. PMID: 36743926Free PMC Article
Owens CD, Pertuz GM, Sanchez JC, Ayala J, Pimentel LH, Lamb C, Lopez Mayo YE, Yunez AL
J Am Board Fam Med 2022 Jul-Aug;35(4):686-694. doi: 10.3122/jabfm.2022.04.210163. PMID: 35896459
Gill AJ
Histopathology 2018 Jan;72(1):106-116. doi: 10.1111/his.13277. PMID: 29239034
Kerola A, Lampela H, Lohi J, Heikkilä P, Mutanen A, Jalanko H, Pakarinen MP
Surgery 2017 Sep;162(3):548-556. Epub 2017 Jun 24 doi: 10.1016/j.surg.2017.04.013. PMID: 28655415
Wada R, Arai H, Kure S, Peng WX, Naito Z
Pathol Int 2016 Aug;66(8):431-7. Epub 2016 Jul 18 doi: 10.1111/pin.12431. PMID: 27427238

Clinical prediction guides

Gudmundsdottir H, Graham RP, Sonbol MB, Smoot RL, Truty MJ, Kendrick ML, Nagorney DM, Habermann EB, Halfdanarson TR, Cleary SP
J Surg Oncol 2021 Dec;124(7):1077-1084. Epub 2021 Jul 26 doi: 10.1002/jso.26618. PMID: 34310723
Gill AJ
Histopathology 2018 Jan;72(1):106-116. doi: 10.1111/his.13277. PMID: 29239034
Wada R, Arai H, Kure S, Peng WX, Naito Z
Pathol Int 2016 Aug;66(8):431-7. Epub 2016 Jul 18 doi: 10.1111/pin.12431. PMID: 27427238
Verbitsky M, Sanna-Cherchi S, Fasel DA, Levy B, Kiryluk K, Wuttke M, Abraham AG, Kaskel F, Köttgen A, Warady BA, Furth SL, Wong CS, Gharavi AG
J Clin Invest 2015 May;125(5):2171-8. Epub 2015 Apr 20 doi: 10.1172/JCI80877. PMID: 25893603Free PMC Article
Hershberger RE, Hedges DJ, Morales A
Nat Rev Cardiol 2013 Sep;10(9):531-47. Epub 2013 Jul 30 doi: 10.1038/nrcardio.2013.105. PMID: 23900355

Recent systematic reviews

Debiec RM, Hamby SE, Jones PD, Safwan K, Sosin M, Hetherington SL, Sprigings D, Sharman D, Lee K, Salahshouri P, Wheeldon N, Chukwuemeka A, Boutziouka V, Elamin M, Coolman S, Asiani M, Kharodia S, Skinner GJ, Samani NJ, Webb TR, Bolger AP
Heart 2022 Jun 24;108(14):1114-1120. doi: 10.1136/heartjnl-2021-320428. PMID: 35288444Free PMC Article
Ziats CA, Patterson WG, Friez M
Pediatr Neurol 2021 Jan;114:21-25. Epub 2020 Jun 28 doi: 10.1016/j.pediatrneurol.2020.06.011. PMID: 33189026
Shieh JT, Bittles AH, Hudgins L
Am J Med Genet A 2012 May;158A(5):1236-41. Epub 2012 Apr 9 doi: 10.1002/ajmg.a.35272. PMID: 22488956Free PMC Article

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