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Beckwith-Wiedemann syndrome due to imprinting defect of 11p15

MedGen UID:
1842606
Concept ID:
C5680922
Disease or Syndrome
Synonym: Beckwith-Wiedemann syndrome due to imprinting defect of type 11p15
 
Monarch Initiative: MONDO:0016475
Orphanet: ORPHA231117

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBeckwith-Wiedemann syndrome due to imprinting defect of 11p15

Professional guidelines

PubMed

Defabianis P, Mussa A, Ninivaggi R, Carli D, Romano F
Int J Environ Res Public Health 2022 Feb 20;19(4) doi: 10.3390/ijerph19042448. PMID: 35206635Free PMC Article
Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER
Nat Rev Endocrinol 2018 Apr;14(4):229-249. Epub 2018 Jan 29 doi: 10.1038/nrendo.2017.166. PMID: 29377879Free PMC Article
Mussa A, Russo S, De Crescenzo A, Freschi A, Calzari L, Maitz S, Macchiaiolo M, Molinatto C, Baldassarre G, Mariani M, Tarani L, Bedeschi MF, Milani D, Melis D, Bartuli A, Cubellis MV, Selicorni A, Cirillo Silengo M, Larizza L, Riccio A, Ferrero GB
Eur J Hum Genet 2016 Feb;24(2):183-90. Epub 2015 Apr 22 doi: 10.1038/ejhg.2015.88. PMID: 25898929Free PMC Article

Recent clinical studies

Etiology

Bilgin B, Kabaçam S, Taşkıran E, Şimşek-Kiper PÖ, Alanay Y, Boduroğlu K, Utine GE
Turk J Pediatr 2018;60(5):506-513. doi: 10.24953/turkjped.2018.05.006. PMID: 30968633
Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER
Nat Rev Endocrinol 2018 Apr;14(4):229-249. Epub 2018 Jan 29 doi: 10.1038/nrendo.2017.166. PMID: 29377879Free PMC Article
Giabicani É, Brioude F, Le Bouc Y, Netchine I
Ann Endocrinol (Paris) 2017 Jun;78(2):112-113. Epub 2017 May 4 doi: 10.1016/j.ando.2017.04.010. PMID: 28478949
Azzi S, Abi Habib W, Netchine I
Curr Opin Endocrinol Diabetes Obes 2014 Feb;21(1):30-8. doi: 10.1097/MED.0000000000000037. PMID: 24322424
Cohen MM Jr
Pediatr Dev Pathol 2005 May-Jun;8(3):287-304. Epub 2005 Jul 14 doi: 10.1007/s10024-005-1154-9. PMID: 16010495

Diagnosis

Fontana L, Tabano S, Maitz S, Colapietro P, Garzia E, Gerli AG, Sirchia SM, Miozzo M
Int J Mol Sci 2021 Mar 26;22(7) doi: 10.3390/ijms22073445. PMID: 33810554Free PMC Article
Baker SW, Duffy KA, Richards-Yutz J, Deardorff MA, Kalish JM, Ganguly A
J Med Genet 2021 Mar;58(3):178-184. Epub 2020 May 19 doi: 10.1136/jmedgenet-2019-106498. PMID: 32430359Free PMC Article
Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER
Nat Rev Endocrinol 2018 Apr;14(4):229-249. Epub 2018 Jan 29 doi: 10.1038/nrendo.2017.166. PMID: 29377879Free PMC Article
Eggermann T, Binder G, Brioude F, Maher ER, Lapunzina P, Cubellis MV, Bergadá I, Prawitt D, Begemann M
Trends Mol Med 2014 Nov;20(11):614-22. Epub 2014 Sep 25 doi: 10.1016/j.molmed.2014.09.001. PMID: 25262539
Cohen MM Jr
Pediatr Dev Pathol 2005 May-Jun;8(3):287-304. Epub 2005 Jul 14 doi: 10.1007/s10024-005-1154-9. PMID: 16010495

Therapy

Moutafi M, Gkiourtzis N, Ververi A, Kavga M, Morichovitou A, Papadopoulou-Legbelou K, Fotoulaki M, Panagopoulou P
Am J Med Genet A 2024 Jan;194(1):88-93. Epub 2023 Aug 26 doi: 10.1002/ajmg.a.63381. PMID: 37632712
Cardarelli L, Sparago A, De Crescenzo A, Nalesso E, Zavan B, Cubellis MV, Selicorni A, Cavicchioli P, Pozzan GB, Petrella M, Riccio A
Pediatr Dev Pathol 2010 Jul-Aug;13(4):326-30. doi: 10.2350/09-07-0686-CR.1. PMID: 20028213
Lim D, Bowdin SC, Tee L, Kirby GA, Blair E, Fryer A, Lam W, Oley C, Cole T, Brueton LA, Reik W, Macdonald F, Maher ER
Hum Reprod 2009 Mar;24(3):741-7. Epub 2008 Dec 10 doi: 10.1093/humrep/den406. PMID: 19073614
Rossignol S, Steunou V, Chalas C, Kerjean A, Rigolet M, Viegas-Pequignot E, Jouannet P, Le Bouc Y, Gicquel C
J Med Genet 2006 Dec;43(12):902-7. Epub 2006 Jul 6 doi: 10.1136/jmg.2006.042135. PMID: 16825435Free PMC Article
Rump P, Zeegers MP, van Essen AJ
Am J Med Genet A 2005 Jul 1;136(1):95-104. doi: 10.1002/ajmg.a.30729. PMID: 15887271

Prognosis

Kim HY, Shin CH, Lee YA, Shin CH, Kim GH, Ko JM
Ann Lab Med 2022 Nov 1;42(6):668-677. doi: 10.3343/alm.2022.42.6.668. PMID: 35765875Free PMC Article
Defabianis P, Mussa A, Ninivaggi R, Carli D, Romano F
Int J Environ Res Public Health 2022 Feb 20;19(4) doi: 10.3390/ijerph19042448. PMID: 35206635Free PMC Article
Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER
Nat Rev Endocrinol 2018 Apr;14(4):229-249. Epub 2018 Jan 29 doi: 10.1038/nrendo.2017.166. PMID: 29377879Free PMC Article
Pappas JG
Curr Probl Pediatr Adolesc Health Care 2015 Apr;45(4):112-7. Epub 2015 Apr 7 doi: 10.1016/j.cppeds.2015.03.001. PMID: 25861997
Azzi S, Abi Habib W, Netchine I
Curr Opin Endocrinol Diabetes Obes 2014 Feb;21(1):30-8. doi: 10.1097/MED.0000000000000037. PMID: 24322424

Clinical prediction guides

Tayeh MK, DeVaul J, LeSueur K, Yang C, Bedoyan JK, Thomas P, Hannibal MC, Innis JW
Am J Med Genet A 2022 Jul;188(7):2209-2216. Epub 2022 Apr 1 doi: 10.1002/ajmg.a.62752. PMID: 35365979Free PMC Article
Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER
Nat Rev Endocrinol 2018 Apr;14(4):229-249. Epub 2018 Jan 29 doi: 10.1038/nrendo.2017.166. PMID: 29377879Free PMC Article
Mussa A, Russo S, De Crescenzo A, Freschi A, Calzari L, Maitz S, Macchiaiolo M, Molinatto C, Baldassarre G, Mariani M, Tarani L, Bedeschi MF, Milani D, Melis D, Bartuli A, Cubellis MV, Selicorni A, Cirillo Silengo M, Larizza L, Riccio A, Ferrero GB
Eur J Hum Genet 2016 Feb;24(2):183-90. Epub 2015 Apr 22 doi: 10.1038/ejhg.2015.88. PMID: 25898929Free PMC Article
Azzi S, Abi Habib W, Netchine I
Curr Opin Endocrinol Diabetes Obes 2014 Feb;21(1):30-8. doi: 10.1097/MED.0000000000000037. PMID: 24322424
Weksberg R, Squire JA
Med Pediatr Oncol 1996 Nov;27(5):462-9. doi: 10.1002/(SICI)1096-911X(199611)27:5<462::AID-MPO13>3.0.CO;2-C. PMID: 8827075

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