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Abnormality of the diencephalon

MedGen UID:
869326
Concept ID:
C4023752
Anatomical Abnormality
HPO: HP:0010662

Definition

An abnormality of the Diencephalon, which together with the cerebrum (telencephalon) makes up the forebrain. [from HPO]

Professional guidelines

PubMed

Klein DA, Emerick JE, Sylvester JE, Vogt KS
Am Fam Physician 2017 Nov 1;96(9):590-599. PMID: 29094880
Hegde AN, Mohan S, Lath N, Lim CC
Radiographics 2011 Jan-Feb;31(1):5-30. doi: 10.1148/rg.311105041. PMID: 21257930
Klit H, Finnerup NB, Jensen TS
Lancet Neurol 2009 Sep;8(9):857-68. doi: 10.1016/S1474-4422(09)70176-0. PMID: 19679277

Recent clinical studies

Etiology

Müller HL, Tauber M, Lawson EA, Özyurt J, Bison B, Martinez-Barbera JP, Puget S, Merchant TE, van Santen HM
Nat Rev Dis Primers 2022 Apr 21;8(1):24. doi: 10.1038/s41572-022-00351-z. PMID: 35449162
Prete A, Auchus RJ, Ross RJ
Eur J Endocrinol 2021 Nov 30;186(1):R1-R14. doi: 10.1530/EJE-21-0794. PMID: 34735372Free PMC Article
Lecler A, Attye A, Edelson C
J Neuroophthalmol 2018 Sep;38(3):344-346. doi: 10.1097/WNO.0000000000000650. PMID: 29561327
Larkin S, Karavitaki N, Ansorge O
Handb Clin Neurol 2014;124:255-69. doi: 10.1016/B978-0-444-59602-4.00017-4. PMID: 25248592
Groth KA, Skakkebæk A, Høst C, Gravholt CH, Bojesen A
J Clin Endocrinol Metab 2013 Jan;98(1):20-30. Epub 2012 Nov 1 doi: 10.1210/jc.2012-2382. PMID: 23118429

Diagnosis

Brito VN, Canton APM, Seraphim CE, Abreu AP, Macedo DB, Mendonca BB, Kaiser UB, Argente J, Latronico AC
Endocr Rev 2023 Mar 4;44(2):193-221. doi: 10.1210/endrev/bnac020. PMID: 35930274Free PMC Article
Müller HL, Tauber M, Lawson EA, Özyurt J, Bison B, Martinez-Barbera JP, Puget S, Merchant TE, van Santen HM
Nat Rev Dis Primers 2022 Apr 21;8(1):24. doi: 10.1038/s41572-022-00351-z. PMID: 35449162
Barber TM, Kyrou I, Kaltsas G, Grossman AB, Randeva HS, Weickert MO
Int J Mol Sci 2021 Jul 30;22(15) doi: 10.3390/ijms22158217. PMID: 34360982Free PMC Article
Larkin S, Karavitaki N, Ansorge O
Handb Clin Neurol 2014;124:255-69. doi: 10.1016/B978-0-444-59602-4.00017-4. PMID: 25248592
Groth KA, Skakkebæk A, Høst C, Gravholt CH, Bojesen A
J Clin Endocrinol Metab 2013 Jan;98(1):20-30. Epub 2012 Nov 1 doi: 10.1210/jc.2012-2382. PMID: 23118429

Therapy

Manfredi-Lozano M, Leysen V, Adamo M, Paiva I, Rovera R, Pignat JM, Timzoura FE, Candlish M, Eddarkaoui S, Malone SA, Silva MSB, Trova S, Imbernon M, Decoster L, Cotellessa L, Tena-Sempere M, Claret M, Paoloni-Giacobino A, Plassard D, Paccou E, Vionnet N, Acierno J, Maceski AM, Lutti A, Pfrieger F, Rasika S, Santoni F, Boehm U, Ciofi P, Buée L, Haddjeri N, Boutillier AL, Kuhle J, Messina A, Draganski B, Giacobini P, Pitteloud N, Prevot V
Science 2022 Sep 2;377(6610):eabq4515. doi: 10.1126/science.abq4515. PMID: 36048943Free PMC Article
Prete A, Auchus RJ, Ross RJ
Eur J Endocrinol 2021 Nov 30;186(1):R1-R14. doi: 10.1530/EJE-21-0794. PMID: 34735372Free PMC Article
Rachdaoui N, Sarkar DK
Alcohol Res 2017;38(2):255-276. PMID: 28988577Free PMC Article
Otte C, Gold SM, Penninx BW, Pariante CM, Etkin A, Fava M, Mohr DC, Schatzberg AF
Nat Rev Dis Primers 2016 Sep 15;2:16065. doi: 10.1038/nrdp.2016.65. PMID: 27629598
Peñagarikano O, Lázaro MT, Lu XH, Gordon A, Dong H, Lam HA, Peles E, Maidment NT, Murphy NP, Yang XW, Golshani P, Geschwind DH
Sci Transl Med 2015 Jan 21;7(271):271ra8. doi: 10.1126/scitranslmed.3010257. PMID: 25609168Free PMC Article

Prognosis

Wartchow KM, Cordeiro RC, Scaini G
Curr Opin Psychiatry 2023 Jan 1;36(1):20-27. Epub 2022 Nov 15 doi: 10.1097/YCO.0000000000000836. PMID: 36449729
Engel DF, Velloso LA
Neuropharmacology 2022 May 1;208:108983. Epub 2022 Feb 8 doi: 10.1016/j.neuropharm.2022.108983. PMID: 35143850
Lecler A, Attye A, Edelson C
J Neuroophthalmol 2018 Sep;38(3):344-346. doi: 10.1097/WNO.0000000000000650. PMID: 29561327
Decramer T, Van Keer K, Stalmans P, Dupont P, Sunaert S, Theys T
J Neurol 2018 Jan;265(1):41-45. Epub 2017 Nov 6 doi: 10.1007/s00415-017-8661-2. PMID: 29110092
Lacroix A, Feelders RA, Stratakis CA, Nieman LK
Lancet 2015 Aug 29;386(9996):913-27. Epub 2015 May 21 doi: 10.1016/S0140-6736(14)61375-1. PMID: 26004339

Clinical prediction guides

Liu M, He E, Fu X, Gong S, Han Y, Deng F
J Affect Disord 2022 Apr 1;302:324-331. Epub 2022 Jan 13 doi: 10.1016/j.jad.2022.01.057. PMID: 35032508
Bernstein HG, Keilhoff G, Steiner J
Handb Clin Neurol 2021;182:107-120. doi: 10.1016/B978-0-12-819973-2.00008-3. PMID: 34266587
Tauber M, Hoybye C
Lancet Diabetes Endocrinol 2021 Apr;9(4):235-246. Epub 2021 Feb 26 doi: 10.1016/S2213-8587(21)00002-4. PMID: 33647242
Bostan AC, Strick PL
Nat Rev Neurosci 2018 Jun;19(6):338-350. doi: 10.1038/s41583-018-0002-7. PMID: 29643480Free PMC Article
Li MCH, Cook MJ
Epilepsia 2018 Feb;59(2):273-290. Epub 2017 Dec 7 doi: 10.1111/epi.13964. PMID: 29218702

Recent systematic reviews

Schaper SJ, Stengel A
J Psychosom Res 2022 Feb;153:110694. Epub 2021 Dec 14 doi: 10.1016/j.jpsychores.2021.110694. PMID: 34942583
Choque-Velasquez J, Colasanti R, Baluszek S, Resendiz-Nieves J, Muhammad S, Ludtka C, Hernesniemi J
Childs Nerv Syst 2020 Dec;36(12):2927-2938. Epub 2020 Jul 20 doi: 10.1007/s00381-020-04792-3. PMID: 32691194Free PMC Article
Lukito S, Norman L, Carlisi C, Radua J, Hart H, Simonoff E, Rubia K
Psychol Med 2020 Apr;50(6):894-919. Epub 2020 Mar 27 doi: 10.1017/S0033291720000574. PMID: 32216846Free PMC Article
Esposito D, Trimpou P, Giugliano D, Dehlin M, Ragnarsson O
Pituitary 2017 Oct;20(5):594-601. doi: 10.1007/s11102-017-0811-0. PMID: 28540625Free PMC Article
Belvederi Murri M, Prestia D, Mondelli V, Pariante C, Patti S, Olivieri B, Arzani C, Masotti M, Respino M, Antonioli M, Vassallo L, Serafini G, Perna G, Pompili M, Amore M
Psychoneuroendocrinology 2016 Jan;63:327-42. Epub 2015 Oct 21 doi: 10.1016/j.psyneuen.2015.10.014. PMID: 26547798

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