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Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15

MedGen UID:
1826079
Concept ID:
C5680343
Disease or Syndrome
Synonyms: Prader-Willi syndrome due to maternal uniparental disomy of chromosome type 15; UPD(15)mat
 
Monarch Initiative: MONDO:0020298
Orphanet: ORPHA98754

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPrader-Willi syndrome due to maternal uniparental disomy of chromosome 15

Professional guidelines

PubMed

Mao S, Yang L, Gao Y, Zou C
Clin Genet 2024 Apr;105(4):415-422. Epub 2024 Jan 23 doi: 10.1111/cge.14477. PMID: 38258470
Lin XM, Zhen L, Wen YJ, Yu QX, Li DZ
Eur J Obstet Gynecol Reprod Biol 2024 Feb;293:115-118. Epub 2023 Dec 21 doi: 10.1016/j.ejogrb.2023.12.030. PMID: 38141485
Dykens E, Shah B
CNS Drugs 2003;17(3):167-78. doi: 10.2165/00023210-200317030-00003. PMID: 12617696

Recent clinical studies

Etiology

Lin XM, Zhen L, Wen YJ, Yu QX, Li DZ
Eur J Obstet Gynecol Reprod Biol 2024 Feb;293:115-118. Epub 2023 Dec 21 doi: 10.1016/j.ejogrb.2023.12.030. PMID: 38141485
Basak S, Basak A
Biosci Rep 2022 Jun 30;42(6) doi: 10.1042/BSR20220610. PMID: 35621394Free PMC Article
Salvatoni A, Moretti A, Grugni G, Agosti M, Azzolini S, Bonaita V, Cianci P, Corica D, Crinò A, Delvecchio M, Ferraris S, Greggio NA, Iughetti L, Licenziati MR, Madeo SF, Nosetti L, Pajno R, Rutigliano I, Sacco M, Salvatore S, Scarano E, Trifirò G, Wasniewska M
Am J Med Genet A 2019 Oct;179(10):2067-2074. Epub 2019 Jul 30 doi: 10.1002/ajmg.a.61304. PMID: 31361394
Cho SY, Ki CS, Sohn YB, Maeng SH, Jung YJ, Kim SJ, Jin DK
J Hum Genet 2013 Mar;58(3):150-4. Epub 2013 Jan 10 doi: 10.1038/jhg.2012.148. PMID: 23303386
Talebizadeh Z, Butler MG
Clin Genet 2005 Mar;67(3):230-9. doi: 10.1111/j.1399-0004.2004.00392.x. PMID: 15691361Free PMC Article

Diagnosis

Lin XM, Zhen L, Wen YJ, Yu QX, Li DZ
Eur J Obstet Gynecol Reprod Biol 2024 Feb;293:115-118. Epub 2023 Dec 21 doi: 10.1016/j.ejogrb.2023.12.030. PMID: 38141485
Yamada M, Okuno H, Okamoto N, Suzuki H, Miya F, Takenouchi T, Kosaki K
Eur J Med Genet 2023 Feb;66(2):104690. Epub 2022 Dec 30 doi: 10.1016/j.ejmg.2022.104690. PMID: 36587803
Angulo MA, Butler MG, Cataletto ME
J Endocrinol Invest 2015 Dec;38(12):1249-63. Epub 2015 Jun 11 doi: 10.1007/s40618-015-0312-9. PMID: 26062517Free PMC Article
Cassidy SB, Driscoll DJ
Eur J Hum Genet 2009 Jan;17(1):3-13. Epub 2008 Sep 10 doi: 10.1038/ejhg.2008.165. PMID: 18781185Free PMC Article
Talebizadeh Z, Butler MG
Clin Genet 2005 Mar;67(3):230-9. doi: 10.1111/j.1399-0004.2004.00392.x. PMID: 15691361Free PMC Article

Therapy

Oldzej J, Manazir J, Gold JA, Mahmoud R, Osann K, Flodman P, Cassidy SB, Kimonis VE
Am J Med Genet A 2020 Jan;182(1):169-175. Epub 2019 Nov 29 doi: 10.1002/ajmg.a.61408. PMID: 31782896
Gold JA, Mahmoud R, Cassidy SB, Kimonis V
Am J Med Genet A 2018 May;176(5):1161-1165. doi: 10.1002/ajmg.a.38679. PMID: 29681103Free PMC Article
Cassidy SB, Driscoll DJ
Eur J Hum Genet 2009 Jan;17(1):3-13. Epub 2008 Sep 10 doi: 10.1038/ejhg.2008.165. PMID: 18781185Free PMC Article
Lalande M, Calciano MA
Cell Mol Life Sci 2007 Apr;64(7-8):947-60. doi: 10.1007/s00018-007-6460-0. PMID: 17347796Free PMC Article
Dykens E, Shah B
CNS Drugs 2003;17(3):167-78. doi: 10.2165/00023210-200317030-00003. PMID: 12617696

Prognosis

Muthusamy K, Macke EL, Klee EW, Tebben PJ, Hand JL, Hasadsri L, Marcou CA, Schimmenti LA
Am J Med Genet A 2020 Oct;182(10):2442-2449. Epub 2020 Aug 20 doi: 10.1002/ajmg.a.61792. PMID: 32815268
Singh P, Mahmoud R, Gold JA, Miller JL, Roof E, Tamura R, Dykens E, Butler MG, Driscoll DJ, Kimonis V
J Med Genet 2018 Sep;55(9):594-598. Epub 2018 May 18 doi: 10.1136/jmedgenet-2017-105118. PMID: 29776967Free PMC Article
Zhang K, Liu S, Feng B, Yang Y, Zhang H, Dong R, Liu Y, Gai Z
PLoS One 2016;11(2):e0147824. Epub 2016 Feb 3 doi: 10.1371/journal.pone.0147824. PMID: 26841067Free PMC Article
Butler MG
J Assist Reprod Genet 2009 Sep-Oct;26(9-10):477-86. Epub 2009 Oct 21 doi: 10.1007/s10815-009-9353-3. PMID: 19844787Free PMC Article
Dykens E, Shah B
CNS Drugs 2003;17(3):167-78. doi: 10.2165/00023210-200317030-00003. PMID: 12617696

Clinical prediction guides

Yamada M, Okuno H, Okamoto N, Suzuki H, Miya F, Takenouchi T, Kosaki K
Eur J Med Genet 2023 Feb;66(2):104690. Epub 2022 Dec 30 doi: 10.1016/j.ejmg.2022.104690. PMID: 36587803
Chung MS, Langouët M, Chamberlain SJ, Carmichael GG
Open Biol 2020 Sep;10(9):200195. Epub 2020 Sep 23 doi: 10.1098/rsob.200195. PMID: 32961075Free PMC Article
Aman LCS, Manning KE, Whittington JE, Holland AJ
Lancet Psychiatry 2018 Apr;5(4):370-378. Epub 2018 Jan 16 doi: 10.1016/S2215-0366(18)30009-9. PMID: 29352661
Manzardo AM, Weisensel N, Ayala S, Hossain W, Butler MG
Clin Genet 2018 Mar;93(3):622-631. Epub 2018 Feb 5 doi: 10.1111/cge.13142. PMID: 28984907Free PMC Article
Talebizadeh Z, Butler MG
Clin Genet 2005 Mar;67(3):230-9. doi: 10.1111/j.1399-0004.2004.00392.x. PMID: 15691361Free PMC Article

Recent systematic reviews

Rocha CF, Paiva CL
Genet Mol Res 2014 Mar 31;13(1):2290-8. doi: 10.4238/2014.March.31.9. PMID: 24737477

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