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Cowden syndrome 3(CWS3)

MedGen UID:
488742
Concept ID:
CN166604
Disease or Syndrome
Synonym: CWS3
 
Monarch Initiative: MONDO:0014045

Definition

Any Cowden disease in which the cause of the disease is a mutation in the SDHD gene. [from MONDO]

Professional guidelines

PubMed

Rebuzzi F, Ulivi P, Tedaldi G
Int J Mol Sci 2023 Jan 21;24(3) doi: 10.3390/ijms24032137. PMID: 36768460Free PMC Article
Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL, Burt RW; American College of Gastroenterology
Am J Gastroenterol 2015 Feb;110(2):223-62; quiz 263. Epub 2015 Feb 3 doi: 10.1038/ajg.2014.435. PMID: 25645574Free PMC Article
Ngeow J, Eng C
Methods 2015 May;77-78:11-9. Epub 2014 Oct 22 doi: 10.1016/j.ymeth.2014.10.011. PMID: 25461771

Recent clinical studies

Etiology

Rebuzzi F, Ulivi P, Tedaldi G
Int J Mol Sci 2023 Jan 21;24(3) doi: 10.3390/ijms24032137. PMID: 36768460Free PMC Article
Huber-Keener KJ
Best Pract Res Clin Obstet Gynaecol 2022 Jun;82:3-11. Epub 2022 Jan 31 doi: 10.1016/j.bpobgyn.2022.01.007. PMID: 35272929
Falsey AR, Sobieszczyk ME, Hirsch I, Sproule S, Robb ML, Corey L, Neuzil KM, Hahn W, Hunt J, Mulligan MJ, McEvoy C, DeJesus E, Hassman M, Little SJ, Pahud BA, Durbin A, Pickrell P, Daar ES, Bush L, Solis J, Carr QO, Oyedele T, Buchbinder S, Cowden J, Vargas SL, Guerreros Benavides A, Call R, Keefer MC, Kirkpatrick BD, Pullman J, Tong T, Brewinski Isaacs M, Benkeser D, Janes HE, Nason MC, Green JA, Kelly EJ, Maaske J, Mueller N, Shoemaker K, Takas T, Marshall RP, Pangalos MN, Villafana T, Gonzalez-Lopez A; AstraZeneca AZD1222 Clinical Study Group
N Engl J Med 2021 Dec 16;385(25):2348-2360. Epub 2021 Sep 29 doi: 10.1056/NEJMoa2105290. PMID: 34587382Free PMC Article
Yehia L, Ni Y, Sesock K, Niazi F, Fletcher B, Chen HJL, LaFramboise T, Eng C
PLoS Genet 2018 Apr;14(4):e1007352. Epub 2018 Apr 23 doi: 10.1371/journal.pgen.1007352. PMID: 29684080Free PMC Article
Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL, Burt RW; American College of Gastroenterology
Am J Gastroenterol 2015 Feb;110(2):223-62; quiz 263. Epub 2015 Feb 3 doi: 10.1038/ajg.2014.435. PMID: 25645574Free PMC Article

Diagnosis

Dupuis H, Lemaitre M, Jannin A, Douillard C, Espiard S, Vantyghem MC
Ann Endocrinol (Paris) 2024 Jun;85(3):231-247. Epub 2024 Jun 12 doi: 10.1016/j.ando.2024.05.003. PMID: 38871514
Watanabe T, Soeda S, Endo Y, Okabe C, Sato T, Kamo N, Ueda M, Kojima M, Furukawa S, Nishigori H, Takahashi T, Fujimori K
Int J Mol Sci 2022 Jan 29;23(3) doi: 10.3390/ijms23031563. PMID: 35163487Free PMC Article
Hill CR, Theos A
Dermatol Clin 2019 Apr;37(2):229-239. doi: 10.1016/j.det.2018.11.004. PMID: 30850045
Stoffel EM
Gastroenterol Clin North Am 2016 Sep;45(3):509-27. doi: 10.1016/j.gtc.2016.04.008. PMID: 27546846
Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL, Burt RW; American College of Gastroenterology
Am J Gastroenterol 2015 Feb;110(2):223-62; quiz 263. Epub 2015 Feb 3 doi: 10.1038/ajg.2014.435. PMID: 25645574Free PMC Article

Therapy

Wollina U, Schönlebe J
Acta Dermatovenerol Croat 2023 Aug;31(1):45-47. PMID: 37843092
Losurdo G, Di Leo M, Rizzi S, Lacavalla I, Celiberto F, Iannone A, Rendina M, Ierardi E, Iabichino G, De Luca L, Di Leo A
Expert Rev Gastroenterol Hepatol 2023 Jul-Dec;17(8):811-816. Epub 2023 Jul 29 doi: 10.1080/17474124.2023.2242240. PMID: 37515779
Falsey AR, Sobieszczyk ME, Hirsch I, Sproule S, Robb ML, Corey L, Neuzil KM, Hahn W, Hunt J, Mulligan MJ, McEvoy C, DeJesus E, Hassman M, Little SJ, Pahud BA, Durbin A, Pickrell P, Daar ES, Bush L, Solis J, Carr QO, Oyedele T, Buchbinder S, Cowden J, Vargas SL, Guerreros Benavides A, Call R, Keefer MC, Kirkpatrick BD, Pullman J, Tong T, Brewinski Isaacs M, Benkeser D, Janes HE, Nason MC, Green JA, Kelly EJ, Maaske J, Mueller N, Shoemaker K, Takas T, Marshall RP, Pangalos MN, Villafana T, Gonzalez-Lopez A; AstraZeneca AZD1222 Clinical Study Group
N Engl J Med 2021 Dec 16;385(25):2348-2360. Epub 2021 Sep 29 doi: 10.1056/NEJMoa2105290. PMID: 34587382Free PMC Article
Hill CR, Theos A
Dermatol Clin 2019 Apr;37(2):229-239. doi: 10.1016/j.det.2018.11.004. PMID: 30850045
Blumenthal GM, Dennis PA
Eur J Hum Genet 2008 Nov;16(11):1289-300. Epub 2008 Sep 10 doi: 10.1038/ejhg.2008.162. PMID: 18781191Free PMC Article

Prognosis

Spoto CPE, Gullo I, Carneiro F, Montgomery EA, Brosens LAA
Semin Diagn Pathol 2018 May;35(3):170-183. Epub 2018 Jan 31 doi: 10.1053/j.semdp.2018.01.004. PMID: 29397239
Shaco-Levy R, Jasperson KW, Martin K, Samadder NJ, Burt RW, Ying J, Bronner MP
J Clin Gastroenterol 2017 Aug;51(7):e60-e67. doi: 10.1097/MCG.0000000000000703. PMID: 27661969
Leslie NR, Longy M
Semin Cell Dev Biol 2016 Apr;52:30-8. Epub 2016 Jan 28 doi: 10.1016/j.semcdb.2016.01.030. PMID: 26827793
Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL, Burt RW; American College of Gastroenterology
Am J Gastroenterol 2015 Feb;110(2):223-62; quiz 263. Epub 2015 Feb 3 doi: 10.1038/ajg.2014.435. PMID: 25645574Free PMC Article
Gawel J, Schwartz RA, Józwiak S
J Cutan Med Surg 2003 Jan-Feb;7(1):61-5. Epub 2002 Oct 9 doi: 10.1007/s10227-002-1142-x. PMID: 12362260

Clinical prediction guides

McClelland K, Li W, Rosenblum ND
Am J Med Genet C Semin Med Genet 2022 Sep;190(3):264-278. Epub 2022 Sep 27 doi: 10.1002/ajmg.c.31999. PMID: 36165461
Falsey AR, Sobieszczyk ME, Hirsch I, Sproule S, Robb ML, Corey L, Neuzil KM, Hahn W, Hunt J, Mulligan MJ, McEvoy C, DeJesus E, Hassman M, Little SJ, Pahud BA, Durbin A, Pickrell P, Daar ES, Bush L, Solis J, Carr QO, Oyedele T, Buchbinder S, Cowden J, Vargas SL, Guerreros Benavides A, Call R, Keefer MC, Kirkpatrick BD, Pullman J, Tong T, Brewinski Isaacs M, Benkeser D, Janes HE, Nason MC, Green JA, Kelly EJ, Maaske J, Mueller N, Shoemaker K, Takas T, Marshall RP, Pangalos MN, Villafana T, Gonzalez-Lopez A; AstraZeneca AZD1222 Clinical Study Group
N Engl J Med 2021 Dec 16;385(25):2348-2360. Epub 2021 Sep 29 doi: 10.1056/NEJMoa2105290. PMID: 34587382Free PMC Article
Spoto CPE, Gullo I, Carneiro F, Montgomery EA, Brosens LAA
Semin Diagn Pathol 2018 May;35(3):170-183. Epub 2018 Jan 31 doi: 10.1053/j.semdp.2018.01.004. PMID: 29397239
Nathan N, Keppler-Noreuil KM, Biesecker LG, Moss J, Darling TN
Dermatol Clin 2017 Jan;35(1):51-60. doi: 10.1016/j.det.2016.07.001. PMID: 27890237Free PMC Article
Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL, Burt RW; American College of Gastroenterology
Am J Gastroenterol 2015 Feb;110(2):223-62; quiz 263. Epub 2015 Feb 3 doi: 10.1038/ajg.2014.435. PMID: 25645574Free PMC Article

Recent systematic reviews

Dash S, Chauhan S, Sennimalai K, Kharbanda OP, Singhal M
Cleft Palate Craniofac J 2023 Dec;60(12):1609-1618. Epub 2022 Jul 26 doi: 10.1177/10556656221116001. PMID: 35881509
Stanich PP, Pilarski R, Rock J, Frankel WL, El-Dika S, Meyer MM
World J Gastroenterol 2014 Feb 21;20(7):1833-8. doi: 10.3748/wjg.v20.i7.1833. PMID: 24587660Free PMC Article

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