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Diagnostic behavioral phenotype

MedGen UID:
1052380
Concept ID:
CN378239
Finding
HPO: HP:0025783

Definition

The Human Phenotype Ontology provides terms to describe specific phenotypic abnormalities rather than disease diagnoses. Nevertheless, it is common for descriptions such as 'Autism' to be used to describe individuals affected with Mendelian forms of neurodevelopmental disease and many other conditions. If possible, we recommend annotation using specific terms in other branchs of the Atypical behavior subontology, but if this is not possible, then terms from this branch may be used. [from HPO]

Professional guidelines

PubMed

Yadlapati R, Gyawali CP, Pandolfino JE; CGIT GERD Consensus Conference Participants
Clin Gastroenterol Hepatol 2022 May;20(5):984-994.e1. Epub 2022 Feb 2 doi: 10.1016/j.cgh.2022.01.025. PMID: 35123084Free PMC Article
Nölting S, Bechmann N, Taieb D, Beuschlein F, Fassnacht M, Kroiss M, Eisenhofer G, Grossman A, Pacak K
Endocr Rev 2022 Mar 9;43(2):199-239. doi: 10.1210/endrev/bnab019. PMID: 34147030Free PMC Article
Cederholm T, Jensen GL, Correia MITD, Gonzalez MC, Fukushima R, Higashiguchi T, Baptista G, Barazzoni R, Blaauw R, Coats A, Crivelli A, Evans DC, Gramlich L, Fuchs-Tarlovsky V, Keller H, Llido L, Malone A, Mogensen KM, Morley JE, Muscaritoli M, Nyulasi I, Pirlich M, Pisprasert V, de van der Schueren MAE, Siltharm S, Singer P, Tappenden K, Velasco N, Waitzberg D, Yamwong P, Yu J, Van Gossum A, Compher C; GLIM Core Leadership Committee; GLIM Working Group
Clin Nutr 2019 Feb;38(1):1-9. Epub 2018 Sep 3 doi: 10.1016/j.clnu.2018.08.002. PMID: 30181091

Recent clinical studies

Etiology

Smagula SF, Zhang G, Gujral S, Covassin N, Li J, Taylor WD, Reynolds CF 3rd, Krafty RT
JAMA Psychiatry 2022 Oct 1;79(10):1023-1031. doi: 10.1001/jamapsychiatry.2022.2573. PMID: 36044201Free PMC Article
de Toro-Martín J, Arsenault BJ, Després JP, Vohl MC
Nutrients 2017 Aug 22;9(8) doi: 10.3390/nu9080913. PMID: 28829397Free PMC Article
Polackwich AS, Shoskes DA
Prostate Cancer Prostatic Dis 2016 Jun;19(2):132-8. Epub 2016 Mar 8 doi: 10.1038/pcan.2016.8. PMID: 26951713
Kalincik T
Neuroepidemiology 2015;44(4):199-214. Epub 2015 May 20 doi: 10.1159/000382130. PMID: 25997994
Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, Zhang J, He W, Scull J, Willis A, Landsverk M, Craigen WJ, Bekheirnia MR, Stray-Pedersen A, Liu P, Wen S, Alcaraz W, Cui H, Walkiewicz M, Reid J, Bainbridge M, Patel A, Boerwinkle E, Beaudet AL, Lupski JR, Plon SE, Gibbs RA, Eng CM
JAMA 2014 Nov 12;312(18):1870-9. doi: 10.1001/jama.2014.14601. PMID: 25326635Free PMC Article

Diagnosis

Smagula SF, Zhang G, Gujral S, Covassin N, Li J, Taylor WD, Reynolds CF 3rd, Krafty RT
JAMA Psychiatry 2022 Oct 1;79(10):1023-1031. doi: 10.1001/jamapsychiatry.2022.2573. PMID: 36044201Free PMC Article
Yap CX, Henders AK, Alvares GA, Wood DLA, Krause L, Tyson GW, Restuadi R, Wallace L, McLaren T, Hansell NK, Cleary D, Grove R, Hafekost C, Harun A, Holdsworth H, Jellett R, Khan F, Lawson LP, Leslie J, Frenk ML, Masi A, Mathew NE, Muniandy M, Nothard M, Miller JL, Nunn L, Holtmann G, Strike LT, de Zubicaray GI, Thompson PM, McMahon KL, Wright MJ, Visscher PM, Dawson PA, Dissanayake C, Eapen V, Heussler HS, McRae AF, Whitehouse AJO, Wray NR, Gratten J
Cell 2021 Nov 24;184(24):5916-5931.e17. Epub 2021 Nov 11 doi: 10.1016/j.cell.2021.10.015. PMID: 34767757
Ramratnam SK, Bacharier LB, Guilbert TW
J Allergy Clin Immunol Pract 2017 Jul-Aug;5(4):889-898. doi: 10.1016/j.jaip.2017.04.031. PMID: 28689839
Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, Zhang J, He W, Scull J, Willis A, Landsverk M, Craigen WJ, Bekheirnia MR, Stray-Pedersen A, Liu P, Wen S, Alcaraz W, Cui H, Walkiewicz M, Reid J, Bainbridge M, Patel A, Boerwinkle E, Beaudet AL, Lupski JR, Plon SE, Gibbs RA, Eng CM
JAMA 2014 Nov 12;312(18):1870-9. doi: 10.1001/jama.2014.14601. PMID: 25326635Free PMC Article
Silverman JL, Yang M, Lord C, Crawley JN
Nat Rev Neurosci 2010 Jul;11(7):490-502. doi: 10.1038/nrn2851. PMID: 20559336Free PMC Article

Therapy

Acosta A, Camilleri M, Abu Dayyeh B, Calderon G, Gonzalez D, McRae A, Rossini W, Singh S, Burton D, Clark MM
Obesity (Silver Spring) 2021 Apr;29(4):662-671. doi: 10.1002/oby.23120. PMID: 33759389Free PMC Article
Morena J, Gupta A, Hoyle JC
Int J Mol Sci 2019 Jul 12;20(14) doi: 10.3390/ijms20143419. PMID: 31336816Free PMC Article
Robbins TW, Vaghi MM, Banca P
Neuron 2019 Apr 3;102(1):27-47. doi: 10.1016/j.neuron.2019.01.046. PMID: 30946823
Scher HI, Morris MJ, Stadler WM, Higano C, Basch E, Fizazi K, Antonarakis ES, Beer TM, Carducci MA, Chi KN, Corn PG, de Bono JS, Dreicer R, George DJ, Heath EI, Hussain M, Kelly WK, Liu G, Logothetis C, Nanus D, Stein MN, Rathkopf DE, Slovin SF, Ryan CJ, Sartor O, Small EJ, Smith MR, Sternberg CN, Taplin ME, Wilding G, Nelson PS, Schwartz LH, Halabi S, Kantoff PW, Armstrong AJ; Prostate Cancer Clinical Trials Working Group 3
J Clin Oncol 2016 Apr 20;34(12):1402-18. Epub 2016 Feb 22 doi: 10.1200/JCO.2015.64.2702. PMID: 26903579Free PMC Article
Martínez-González MA, Salas-Salvadó J, Estruch R, Corella D, Fitó M, Ros E; PREDIMED INVESTIGATORS
Prog Cardiovasc Dis 2015 Jul-Aug;58(1):50-60. Epub 2015 May 1 doi: 10.1016/j.pcad.2015.04.003. PMID: 25940230

Prognosis

Belder CRS, Marshall CR, Jiang J, Mazzeo S, Chokesuwattanaskul A, Rohrer JD, Volkmer A, Hardy CJD, Warren JD
J Neurol 2024 Feb;271(2):1028-1046. Epub 2023 Oct 31 doi: 10.1007/s00415-023-12030-4. PMID: 37906327Free PMC Article
Symonds JD, Zuberi SM, Stewart K, McLellan A, O'Regan M, MacLeod S, Jollands A, Joss S, Kirkpatrick M, Brunklaus A, Pilz DT, Shetty J, Dorris L, Abu-Arafeh I, Andrew J, Brink P, Callaghan M, Cruden J, Diver LA, Findlay C, Gardiner S, Grattan R, Lang B, MacDonnell J, McKnight J, Morrison CA, Nairn L, Slean MM, Stephen E, Webb A, Vincent A, Wilson M
Brain 2019 Aug 1;142(8):2303-2318. doi: 10.1093/brain/awz195. PMID: 31302675Free PMC Article
de Oliveira Neto NR, de Oliveira WS, Mastrocola F, Sacilotto L
J Electrocardiol 2019 Jul-Aug;55:45-50. Epub 2019 Apr 30 doi: 10.1016/j.jelectrocard.2019.04.017. PMID: 31078108
Hause RJ, Pritchard CC, Shendure J, Salipante SJ
Nat Med 2016 Nov;22(11):1342-1350. Epub 2016 Oct 3 doi: 10.1038/nm.4191. PMID: 27694933
Kalincik T
Neuroepidemiology 2015;44(4):199-214. Epub 2015 May 20 doi: 10.1159/000382130. PMID: 25997994

Clinical prediction guides

Sakai K, Mizukami T, Leipsic J, Belmonte M, Sonck J, Nørgaard BL, Otake H, Ko B, Koo BK, Maeng M, Jensen JM, Buytaert D, Munhoz D, Andreini D, Ohashi H, Shinke T, Taylor CA, Barbato E, Johnson NP, De Bruyne B, Collet C
JACC Cardiovasc Imaging 2023 Nov;16(11):1452-1464. Epub 2023 Jul 19 doi: 10.1016/j.jcmg.2023.05.018. PMID: 37480908
Smagula SF, Zhang G, Gujral S, Covassin N, Li J, Taylor WD, Reynolds CF 3rd, Krafty RT
JAMA Psychiatry 2022 Oct 1;79(10):1023-1031. doi: 10.1001/jamapsychiatry.2022.2573. PMID: 36044201Free PMC Article
Celis-Morales C, Livingstone KM, Marsaux CF, Macready AL, Fallaize R, O'Donovan CB, Woolhead C, Forster H, Walsh MC, Navas-Carretero S, San-Cristobal R, Tsirigoti L, Lambrinou CP, Mavrogianni C, Moschonis G, Kolossa S, Hallmann J, Godlewska M, Surwillo A, Traczyk I, Drevon CA, Bouwman J, van Ommen B, Grimaldi K, Parnell LD, Matthews JN, Manios Y, Daniel H, Martinez JA, Lovegrove JA, Gibney ER, Brennan L, Saris WH, Gibney M, Mathers JC; Food4Me Study
Int J Epidemiol 2017 Apr 1;46(2):578-588. doi: 10.1093/ije/dyw186. PMID: 27524815
Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, Zhang J, He W, Scull J, Willis A, Landsverk M, Craigen WJ, Bekheirnia MR, Stray-Pedersen A, Liu P, Wen S, Alcaraz W, Cui H, Walkiewicz M, Reid J, Bainbridge M, Patel A, Boerwinkle E, Beaudet AL, Lupski JR, Plon SE, Gibbs RA, Eng CM
JAMA 2014 Nov 12;312(18):1870-9. doi: 10.1001/jama.2014.14601. PMID: 25326635Free PMC Article
Brugada R, Campuzano O, Sarquella-Brugada G, Brugada J, Brugada P
Methodist Debakey Cardiovasc J 2014 Jan-Mar;10(1):25-8. doi: 10.14797/mdcj-10-1-25. PMID: 24932359Free PMC Article

Recent systematic reviews

Parellada M, Andreu-Bernabeu Á, Burdeus M, San José Cáceres A, Urbiola E, Carpenter LL, Kraguljac NV, McDonald WM, Nemeroff CB, Rodriguez CI, Widge AS, State MW, Sanders SJ
Am J Psychiatry 2023 Jan 1;180(1):23-40. Epub 2022 Dec 7 doi: 10.1176/appi.ajp.21100992. PMID: 36475375Free PMC Article
Diniz NLF, Parlato-Oliveira E, Pimenta PGA, Araújo LA, Valadares ER
Arq Neuropsiquiatr 2022 Jun;80(6):620-630. doi: 10.1590/0004-282X-ANP-2021-0156. PMID: 35946706Free PMC Article
Clemens JQ, Erickson DR, Varela NP, Lai HH
J Urol 2022 Jul;208(1):34-42. Epub 2022 May 10 doi: 10.1097/JU.0000000000002756. PMID: 35536143
Kalincik T
Neuroepidemiology 2015;44(4):199-214. Epub 2015 May 20 doi: 10.1159/000382130. PMID: 25997994
Pandolfino JE, Gawron AJ
JAMA 2015 May 12;313(18):1841-52. doi: 10.1001/jama.2015.2996. PMID: 25965233

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