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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]

Recent clinical studies

Etiology

Perić M, Toma S, Lasserre JF, Brecx M
Oral Health Prev Dent 2018;16(3):225-232. doi: 10.3290/j.ohpd.a40673. PMID: 29946579
Barreras P, Gailloud P, Pardo CA
Spine J 2018 Jan;18(1):e1-e5. Epub 2016 Jan 18 doi: 10.1016/j.spinee.2016.01.005. PMID: 26795104
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
Tsunezuka H, Abe K, Shimada J, Inoue M
Interact Cardiovasc Thorac Surg 2016 Jun;22(6):860-2. Epub 2016 Feb 29 doi: 10.1093/icvts/ivw046. PMID: 26932665Free PMC Article
Ha M, Chung JW, Hahm KB, Kim YJ, Lee W, An J, Kim DK, Kim MG
World J Gastroenterol 2012 Feb 28;18(8):861-4. doi: 10.3748/wjg.v18.i8.861. PMID: 22371648Free PMC Article

Diagnosis

Sabir A, Parry G, Heaton T, Ong KR
BMJ Case Rep 2021 Mar 10;14(3) doi: 10.1136/bcr-2020-236768. PMID: 33692038Free PMC Article
Joo G, Doumanian J
J Radiol Case Rep 2020 Mar;14(3):1-6. Epub 2020 Mar 31 doi: 10.3941/jrcr.v14i3.3814. PMID: 33082915Free PMC Article
Barreras P, Gailloud P, Pardo CA
Spine J 2018 Jan;18(1):e1-e5. Epub 2016 Jan 18 doi: 10.1016/j.spinee.2016.01.005. PMID: 26795104
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
Tsunezuka H, Abe K, Shimada J, Inoue M
Interact Cardiovasc Thorac Surg 2016 Jun;22(6):860-2. Epub 2016 Feb 29 doi: 10.1093/icvts/ivw046. PMID: 26932665Free PMC Article

Therapy

Wang Q, Zhang S, Cheng J, Liu W, Hui X
Clin Neurol Neurosurg 2017 Nov;162:53-58. Epub 2017 Sep 9 doi: 10.1016/j.clineuro.2017.09.007. PMID: 28938107
Schmid GL, Kässner F, Uhlig HH, Körner A, Kratzsch J, Händel N, Zepp FP, Kowalzik F, Laner A, Starke S, Wilhelm FK, Schuster S, Viehweger A, Hirsch W, Kiess W, Garten A
Pediatr Res 2014 Apr;75(4):527-34. Epub 2013 Dec 23 doi: 10.1038/pr.2013.246. PMID: 24366516
Sadahiro H, Ishihara H, Goto H, Oka F, Shirao S, Yoneda H, Suzuki M
J Stroke Cerebrovasc Dis 2014 Mar;23(3):572-5. Epub 2013 May 13 doi: 10.1016/j.jstrokecerebrovasdis.2013.04.021. PMID: 23680687
Krymskaya VP, Goncharova EA
Cell Cycle 2009 Feb 1;8(3):403-13. Epub 2009 Feb 6 doi: 10.4161/cc.8.3.7555. PMID: 19177005Free PMC Article
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

Khandpur U, Huntoon K, Smith-Cohn M, Shaw A, Elder JB
World Neurosurg 2019 Jul;127:319-325. Epub 2019 Mar 21 doi: 10.1016/j.wneu.2019.03.131. PMID: 30905649
Rushin L, Reys B, Freifeld Y, Karpowicz M, Fetzer D, Bagrodia A
Clin Genitourin Cancer 2019 Jun;17(3):e429-e432. Epub 2019 Jan 10 doi: 10.1016/j.clgc.2019.01.002. PMID: 30733184
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
Yehia L, Niazi F, Ni Y, Ngeow J, Sankunny M, Liu Z, Wei W, Mester JL, Keri RA, Zhang B, Eng C
Am J Hum Genet 2015 Nov 5;97(5):661-76. Epub 2015 Oct 29 doi: 10.1016/j.ajhg.2015.10.001. PMID: 26522472Free PMC Article
Jin M, Hampel H, Pilarski R, Zhou X, Peters S, Frankel WL
Am J Dermatopathol 2013 Aug;35(6):637-40. doi: 10.1097/DAD.0b013e31827e28f7. PMID: 23715080

Clinical prediction guides

Yehia L, Ni Y, Feng F, Seyfi M, Sadler T, Frazier TW, Eng C
Am J Hum Genet 2019 Oct 3;105(4):813-821. Epub 2019 Sep 26 doi: 10.1016/j.ajhg.2019.09.004. PMID: 31564436Free PMC Article
Jin M, Hampel H, Pilarski R, Zhou X, Peters S, Frankel WL
Am J Dermatopathol 2013 Aug;35(6):637-40. doi: 10.1097/DAD.0b013e31827e28f7. PMID: 23715080
Milas M, Mester J, Metzger R, Shin J, Mitchell J, Berber E, Siperstein AE, Eng C
Surgery 2012 Dec;152(6):1201-10. doi: 10.1016/j.surg.2012.08.055. PMID: 23158187
Barletta JA, Bellizzi AM, Hornick JL
Am J Surg Pathol 2011 Oct;35(10):1505-11. doi: 10.1097/PAS.0b013e31822fbc7d. PMID: 21921783
Bennett KL, Mester J, Eng C
JAMA 2010 Dec 22;304(24):2724-31. doi: 10.1001/jama.2010.1877. PMID: 21177507Free PMC Article

Recent systematic reviews

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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