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Disorder by Site

MedGen UID:
232130
Concept ID:
C1333305
Disease or Syndrome
Synonym: Disease by Site

Definition

A term that refers to the classification of a disorder according to the anatomic site that is involved in the pathologic process. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDisorder by Site

Professional guidelines

PubMed

Patricios JS, Schneider KJ, Dvorak J, Ahmed OH, Blauwet C, Cantu RC, Davis GA, Echemendia RJ, Makdissi M, McNamee M, Broglio S, Emery CA, Feddermann-Demont N, Fuller GW, Giza CC, Guskiewicz KM, Hainline B, Iverson GL, Kutcher JS, Leddy JJ, Maddocks D, Manley G, McCrea M, Purcell LK, Putukian M, Sato H, Tuominen MP, Turner M, Yeates KO, Herring SA, Meeuwisse W
Br J Sports Med 2023 Jun;57(11):695-711. doi: 10.1136/bjsports-2023-106898. PMID: 37316210
Banwell B, Bennett JL, Marignier R, Kim HJ, Brilot F, Flanagan EP, Ramanathan S, Waters P, Tenembaum S, Graves JS, Chitnis T, Brandt AU, Hemingway C, Neuteboom R, Pandit L, Reindl M, Saiz A, Sato DK, Rostasy K, Paul F, Pittock SJ, Fujihara K, Palace J
Lancet Neurol 2023 Mar;22(3):268-282. Epub 2023 Jan 24 doi: 10.1016/S1474-4422(22)00431-8. PMID: 36706773
Kreiner DS, Hwang SW, Easa JE, Resnick DK, Baisden JL, Bess S, Cho CH, DePalma MJ, Dougherty P 2nd, Fernand R, Ghiselli G, Hanna AS, Lamer T, Lisi AJ, Mazanec DJ, Meagher RJ, Nucci RC, Patel RD, Sembrano JN, Sharma AK, Summers JT, Taleghani CK, Tontz WL Jr, Toton JF; North American Spine Society
Spine J 2014 Jan;14(1):180-91. Epub 2013 Nov 14 doi: 10.1016/j.spinee.2013.08.003. PMID: 24239490

Recent clinical studies

Etiology

Salerno A, Strambo D, Nannoni S, Dunet V, Michel P
Int J Stroke 2022 Aug;17(7):714-722. Epub 2021 Sep 28 doi: 10.1177/17474930211046758. PMID: 34581223Free PMC Article
Turcot V, Lu Y, Highland HM, Schurmann C, Justice AE, Fine RS, Bradfield JP, Esko T, Giri A, Graff M, Guo X, Hendricks AE, Karaderi T, Lempradl A, Locke AE, Mahajan A, Marouli E, Sivapalaratnam S, Young KL, Alfred T, Feitosa MF, Masca NGD, Manning AK, Medina-Gomez C, Mudgal P, Ng MCY, Reiner AP, Vedantam S, Willems SM, Winkler TW, Abecasis G, Aben KK, Alam DS, Alharthi SE, Allison M, Amouyel P, Asselbergs FW, Auer PL, Balkau B, Bang LE, Barroso I, Bastarache L, Benn M, Bergmann S, Bielak LF, Blüher M, Boehnke M, Boeing H, Boerwinkle E, Böger CA, Bork-Jensen J, Bots ML, Bottinger EP, Bowden DW, Brandslund I, Breen G, Brilliant MH, Broer L, Brumat M, Burt AA, Butterworth AS, Campbell PT, Cappellani S, Carey DJ, Catamo E, Caulfield MJ, Chambers JC, Chasman DI, Chen YI, Chowdhury R, Christensen C, Chu AY, Cocca M, Collins FS, Cook JP, Corley J, Corominas Galbany J, Cox AJ, Crosslin DS, Cuellar-Partida G, D'Eustacchio A, Danesh J, Davies G, Bakker PIW, Groot MCH, Mutsert R, Deary IJ, Dedoussis G, Demerath EW, Heijer M, Hollander AI, Ruijter HM, Dennis JG, Denny JC, Di Angelantonio E, Drenos F, Du M, Dubé MP, Dunning AM, Easton DF, Edwards TL, Ellinghaus D, Ellinor PT, Elliott P, Evangelou E, Farmaki AE, Farooqi IS, Faul JD, Fauser S, Feng S, Ferrannini E, Ferrieres J, Florez JC, Ford I, Fornage M, Franco OH, Franke A, Franks PW, Friedrich N, Frikke-Schmidt R, Galesloot TE, Gan W, Gandin I, Gasparini P, Gibson J, Giedraitis V, Gjesing AP, Gordon-Larsen P, Gorski M, Grabe HJ, Grant SFA, Grarup N, Griffiths HL, Grove ML, Gudnason V, Gustafsson S, Haessler J, Hakonarson H, Hammerschlag AR, Hansen T, Harris KM, Harris TB, Hattersley AT, Have CT, Hayward C, He L, Heard-Costa NL, Heath AC, Heid IM, Helgeland Ø, Hernesniemi J, Hewitt AW, Holmen OL, Hovingh GK, Howson JMM, Hu Y, Huang PL, Huffman JE, Ikram MA, Ingelsson E, Jackson AU, Jansson JH, Jarvik GP, Jensen GB, Jia Y, Johansson S, Jørgensen ME, Jørgensen T, Jukema JW, Kahali B, Kahn RS, Kähönen M, Kamstrup PR, Kanoni S, Kaprio J, Karaleftheri M, Kardia SLR, Karpe F, Kathiresan S, Kee F, Kiemeney LA, Kim E, Kitajima H, Komulainen P, Kooner JS, Kooperberg C, Korhonen T, Kovacs P, Kuivaniemi H, Kutalik Z, Kuulasmaa K, Kuusisto J, Laakso M, Lakka TA, Lamparter D, Lange EM, Lange LA, Langenberg C, Larson EB, Lee NR, Lehtimäki T, Lewis CE, Li H, Li J, Li-Gao R, Lin H, Lin KH, Lin LA, Lin X, Lind L, Lindström J, Linneberg A, Liu CT, Liu DJ, Liu Y, Lo KS, Lophatananon A, Lotery AJ, Loukola A, Luan J, Lubitz SA, Lyytikäinen LP, Männistö S, Marenne G, Mazul AL, McCarthy MI, McKean-Cowdin R, Medland SE, Meidtner K, Milani L, Mistry V, Mitchell P, Mohlke KL, Moilanen L, Moitry M, Montgomery GW, Mook-Kanamori DO, Moore C, Mori TA, Morris AD, Morris AP, Müller-Nurasyid M, Munroe PB, Nalls MA, Narisu N, Nelson CP, Neville M, Nielsen SF, Nikus K, Njølstad PR, Nordestgaard BG, Nyholt DR, O'Connel JR, O'Donoghue ML, Olde Loohuis LM, Ophoff RA, Owen KR, Packard CJ, Padmanabhan S, Palmer CNA, Palmer ND, Pasterkamp G, Patel AP, Pattie A, Pedersen O, Peissig PL, Peloso GM, Pennell CE, Perola M, Perry JA, Perry JRB, Pers TH, Person TN, Peters A, Petersen ERB, Peyser PA, Pirie A, Polasek O, Polderman TJ, Puolijoki H, Raitakari OT, Rasheed A, Rauramaa R, Reilly DF, Renström F, Rheinberger M, Ridker PM, Rioux JD, Rivas MA, Roberts DJ, Robertson NR, Robino A, Rolandsson O, Rudan I, Ruth KS, Saleheen D, Salomaa V, Samani NJ, Sapkota Y, Sattar N, Schoen RE, Schreiner PJ, Schulze MB, Scott RA, Segura-Lepe MP, Shah SH, Sheu WH, Sim X, Slater AJ, Small KS, Smith AV, Southam L, Spector TD, Speliotes EK, Starr JM, Stefansson K, Steinthorsdottir V, Stirrups KE, Strauch K, Stringham HM, Stumvoll M, Sun L, Surendran P, Swift AJ, Tada H, Tansey KE, Tardif JC, Taylor KD, Teumer A, Thompson DJ, Thorleifsson G, Thorsteinsdottir U, Thuesen BH, Tönjes A, Tromp G, Trompet S, Tsafantakis E, Tuomilehto J, Tybjaerg-Hansen A, Tyrer JP, Uher R, Uitterlinden AG, Uusitupa M, Laan SW, Duijn CM, Leeuwen N, van Setten J, Vanhala M, Varbo A, Varga TV, Varma R, Velez Edwards DR, Vermeulen SH, Veronesi G, Vestergaard H, Vitart V, Vogt TF, Völker U, Vuckovic D, Wagenknecht LE, Walker M, Wallentin L, Wang F, Wang CA, Wang S, Wang Y, Ware EB, Wareham NJ, Warren HR, Waterworth DM, Wessel J, White HD, Willer CJ, Wilson JG, Witte DR, Wood AR, Wu Y, Yaghootkar H, Yao J, Yao P, Yerges-Armstrong LM, Young R, Zeggini E, Zhan X, Zhang W, Zhao JH, Zhao W, Zhao W, Zhou W, Zondervan KT; CHD Exome+ Consortium; EPIC-CVD Consortium; ExomeBP Consortium; Global Lipids Genetic Consortium; GoT2D Genes Consortium; EPIC InterAct Consortium; INTERVAL Study; ReproGen Consortium; T2D-Genes Consortium; MAGIC Investigators; Understanding Society Scientific Group, Rotter JI, Pospisilik JA, Rivadeneira F, Borecki IB, Deloukas P, Frayling TM, Lettre G, North KE, Lindgren CM, Hirschhorn JN, Loos RJF
Nat Genet 2018 Jan;50(1):26-41. Epub 2017 Dec 22 doi: 10.1038/s41588-017-0011-x. PMID: 29273807Free PMC Article
GTEx Consortium; Laboratory, Data Analysis &Coordinating Center (LDACC)—Analysis Working Group; Statistical Methods groups—Analysis Working Group; Enhancing GTEx (eGTEx) groups; NIH Common Fund; NIH/NCI; NIH/NHGRI; NIH/NIMH; NIH/NIDA; Biospecimen Collection Source Site—NDRI; Biospecimen Collection Source Site—RPCI; Biospecimen Core Resource—VARI; Brain Bank Repository—University of Miami Brain Endowment Bank; Leidos Biomedical—Project Management; ELSI Study; Genome Browser Data Integration &Visualization—EBI; Genome Browser Data Integration &Visualization—UCSC Genomics Institute, University of California Santa Cruz; Lead analysts:; Laboratory, Data Analysis &Coordinating Center (LDACC):; NIH program management:; Biospecimen collection:; Pathology:; eQTL manuscript working group:, Battle A, Brown CD, Engelhardt BE, Montgomery SB
Nature 2017 Oct 11;550(7675):204-213. doi: 10.1038/nature24277. PMID: 29022597Free PMC Article
Rossi D, Gaidano G
Adv Exp Med Biol 2013;792:173-91. doi: 10.1007/978-1-4614-8051-8_8. PMID: 24014297
Scheinfeld N
Expert Opin Drug Saf 2005 Jul;4(4):637-41. doi: 10.1517/14740338.4.4.637. PMID: 16011443

Diagnosis

Solomon AJ, Arrambide G, Brownlee WJ, Flanagan EP, Amato MP, Amezcua L, Banwell BL, Barkhof F, Corboy JR, Correale J, Fujihara K, Graves J, Harnegie MP, Hemmer B, Lechner-Scott J, Marrie RA, Newsome SD, Rocca MA, Royal W 3rd, Waubant EL, Yamout B, Cohen JA
Lancet Neurol 2023 Aug;22(8):750-768. doi: 10.1016/S1474-4422(23)00148-5. PMID: 37479377
Sakers A, De Siqueira MK, Seale P, Villanueva CJ
Cell 2022 Feb 3;185(3):419-446. doi: 10.1016/j.cell.2021.12.016. PMID: 35120662Free PMC Article
Salerno A, Strambo D, Nannoni S, Dunet V, Michel P
Int J Stroke 2022 Aug;17(7):714-722. Epub 2021 Sep 28 doi: 10.1177/17474930211046758. PMID: 34581223Free PMC Article
Yépez VA, Mertes C, Müller MF, Klaproth-Andrade D, Wachutka L, Frésard L, Gusic M, Scheller IF, Goldberg PF, Prokisch H, Gagneur J
Nat Protoc 2021 Feb;16(2):1276-1296. Epub 2021 Jan 18 doi: 10.1038/s41596-020-00462-5. PMID: 33462443
Finsterer J, Scorza FA, Fiorini AC, Scorza CA
Pediatr Neurol 2020 Sep;110:25-29. Epub 2020 Jul 16 doi: 10.1016/j.pediatrneurol.2020.03.009. PMID: 32684373

Therapy

Smith JR, DiSalvo M, Green A, Ceranoglu TA, Anteraper SA, Croarkin P, Joshi G
Neuropsychol Rev 2023 Dec;33(4):834-855. Epub 2022 Sep 26 doi: 10.1007/s11065-022-09564-1. PMID: 36161554Free PMC Article
Hyde J, Carr H, Kelley N, Seneviratne R, Reed C, Parlatini V, Garner M, Solmi M, Rosson S, Cortese S, Brandt V
Mol Psychiatry 2022 Jun;27(6):2709-2719. Epub 2022 Apr 1 doi: 10.1038/s41380-022-01524-8. PMID: 35365806Free PMC Article
Demarest S, Pestana-Knight EM, Olson HE, Downs J, Marsh ED, Kaufmann WE, Partridge CA, Leonard H, Gwadry-Sridhar F, Frame KE, Cross JH, Chin RFM, Parikh S, Panzer A, Weisenberg J, Utley K, Jaksha A, Amin S, Khwaja O, Devinsky O, Neul JL, Percy AK, Benke TA
Pediatr Neurol 2019 Aug;97:38-42. Epub 2019 Mar 27 doi: 10.1016/j.pediatrneurol.2019.03.017. PMID: 31147226Free PMC Article
Perini F, De Boni A
Neurol Sci 2012 May;33 Suppl 1:S29-31. doi: 10.1007/s10072-012-1039-4. PMID: 22644166
Johnson M, Richards W, Griffiths R
J Psychopharmacol 2008 Aug;22(6):603-20. Epub 2008 Jul 1 doi: 10.1177/0269881108093587. PMID: 18593734Free PMC Article

Prognosis

Schneider CV, Schneider KM, Teumer A, Rudolph KL, Hartmann D, Rader DJ, Strnad P
JAMA Intern Med 2022 Mar 1;182(3):291-300. doi: 10.1001/jamainternmed.2021.7804. PMID: 35040871Free PMC Article
Steinhaus R, Proft S, Schuelke M, Cooper DN, Schwarz JM, Seelow D
Nucleic Acids Res 2021 Jul 2;49(W1):W446-W451. doi: 10.1093/nar/gkab266. PMID: 33893808Free PMC Article
Ferlay J, Colombet M, Soerjomataram I, Mathers C, Parkin DM, Piñeros M, Znaor A, Bray F
Int J Cancer 2019 Apr 15;144(8):1941-1953. Epub 2018 Dec 6 doi: 10.1002/ijc.31937. PMID: 30350310
Jemal A, Siegel R, Xu J, Ward E
CA Cancer J Clin 2010 Sep-Oct;60(5):277-300. Epub 2010 Jul 7 doi: 10.3322/caac.20073. PMID: 20610543
Chamberlain MC
J Clin Oncol 2005 May 20;23(15):3605-13. doi: 10.1200/JCO.2005.01.131. PMID: 15908671

Clinical prediction guides

Bissell MM, Raimondi F, Ait Ali L, Allen BD, Barker AJ, Bolger A, Burris N, Carhäll CJ, Collins JD, Ebbers T, Francois CJ, Frydrychowicz A, Garg P, Geiger J, Ha H, Hennemuth A, Hope MD, Hsiao A, Johnson K, Kozerke S, Ma LE, Markl M, Martins D, Messina M, Oechtering TH, van Ooij P, Rigsby C, Rodriguez-Palomares J, Roest AAW, Roldán-Alzate A, Schnell S, Sotelo J, Stuber M, Syed AB, Töger J, van der Geest R, Westenberg J, Zhong L, Zhong Y, Wieben O, Dyverfeldt P
J Cardiovasc Magn Reson 2023 Jul 20;25(1):40. doi: 10.1186/s12968-023-00942-z. PMID: 37474977Free PMC Article
Venkataramany AS, Schieffer KM, Lee K, Cottrell CE, Wang PY, Mardis ER, Cripe TP, Chandler DS
Ann Oncol 2022 Jun;33(6):578-592. Epub 2022 Mar 23 doi: 10.1016/j.annonc.2022.03.011. PMID: 35339647
Steinhaus R, Proft S, Schuelke M, Cooper DN, Schwarz JM, Seelow D
Nucleic Acids Res 2021 Jul 2;49(W1):W446-W451. doi: 10.1093/nar/gkab266. PMID: 33893808Free PMC Article
Alexander Y, Osto E, Schmidt-Trucksäss A, Shechter M, Trifunovic D, Duncker DJ, Aboyans V, Bäck M, Badimon L, Cosentino F, De Carlo M, Dorobantu M, Harrison DG, Guzik TJ, Hoefer I, Morris PD, Norata GD, Suades R, Taddei S, Vilahur G, Waltenberger J, Weber C, Wilkinson F, Bochaton-Piallat ML, Evans PC
Cardiovasc Res 2021 Jan 1;117(1):29-42. doi: 10.1093/cvr/cvaa085. PMID: 32282914Free PMC Article
Rossi D, Gaidano G
Adv Exp Med Biol 2013;792:173-91. doi: 10.1007/978-1-4614-8051-8_8. PMID: 24014297

Recent systematic reviews

Soo SY, Ang WS, Chong CH, Tew IM, Yahya NA
Work 2023;74(2):469-476. doi: 10.3233/WOR-211094. PMID: 36278379
Bai W, Chen P, Cai H, Zhang Q, Su Z, Cheung T, Jackson T, Sha S, Xiang YT
Age Ageing 2022 Aug 2;51(8) doi: 10.1093/ageing/afac173. PMID: 35977150
Denis D, French CC, Gregory AM
Sleep Med Rev 2018 Apr;38:141-157. Epub 2017 Jun 8 doi: 10.1016/j.smrv.2017.05.005. PMID: 28735779
Ortiz Ramírez J, Pérez de la Cruz S
Arch Argent Pediatr 2017 Dec 1;115(6):e356-e361. doi: 10.5546/aap.2017.eng.e356. PMID: 29087112
Kreiner DS, Shaffer WO, Baisden JL, Gilbert TJ, Summers JT, Toton JF, Hwang SW, Mendel RC, Reitman CA; North American Spine Society
Spine J 2013 Jul;13(7):734-43. doi: 10.1016/j.spinee.2012.11.059. PMID: 23830297

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