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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

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
Santoro SL, Hashimoto S, McKinney A, Mihalic Mosher T, Pyatt R, Reshmi SC, Astbury C, Hickey SE
Cytogenet Genome Res 2017;152(2):105-109. Epub 2017 Jul 27 doi: 10.1159/000478921. PMID: 28746920
Dykens E, Shah B
CNS Drugs 2003;17(3):167-78. doi: 10.2165/00023210-200317030-00003. PMID: 12617696

Recent clinical studies

Etiology

Basak S, Basak A
Biosci Rep 2022 Jun 30;42(6) doi: 10.1042/BSR20220610. PMID: 35621394Free PMC Article
Shubina J, Barkov IY, Stupko OK, Kuznetsova MV, Goltsov AY, Kochetkova TO, Trofimov DY, Sukhikh GT
Mol Genet Genomic Med 2020 Oct;8(10):e1448. Epub 2020 Aug 28 doi: 10.1002/mgg3.1448. PMID: 32857485Free PMC Article
Yang L, Zhou Q, Ma B, Mao S, Dai Y, Zhu M, Zou C
Orphanet J Rare Dis 2020 Jan 21;15(1):24. doi: 10.1186/s13023-020-1306-z. PMID: 31964399Free 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
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

Diagnosis

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
Basak S, Basak A
Biosci Rep 2022 Jun 30;42(6) doi: 10.1042/BSR20220610. PMID: 35621394Free PMC Article
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
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

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: 17347796
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
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
Veltman MW, Thompson RJ, Roberts SE, Thomas NS, Whittington J, Bolton PF
Eur Child Adolesc Psychiatry 2004 Feb;13(1):42-50. doi: 10.1007/s00787-004-0354-6. PMID: 14991431
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
Dykens E, Shah B
CNS Drugs 2003;17(3):167-78. doi: 10.2165/00023210-200317030-00003. PMID: 12617696

Recent systematic reviews

Aman LCS, Lester SD, Holland AJ, Fletcher PC
Orphanet J Rare Dis 2024 Feb 15;19(1):69. doi: 10.1186/s13023-024-03026-y. PMID: 38360662Free PMC Article
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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