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Prader-Willi syndrome due to translocation

MedGen UID:
1826085
Concept ID:
C5680509
Disease or Syndrome
Monarch Initiative: MONDO:0015785
Orphanet: ORPHA177907

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPrader-Willi syndrome due to translocation

Professional guidelines

PubMed

Lindstrand A, Eisfeldt J, Pettersson M, Carvalho CMB, Kvarnung M, Grigelioniene G, Anderlid BM, Bjerin O, Gustavsson P, Hammarsjö A, Georgii-Hemming P, Iwarsson E, Johansson-Soller M, Lagerstedt-Robinson K, Lieden A, Magnusson M, Martin M, Malmgren H, Nordenskjöld M, Norling A, Sahlin E, Stranneheim H, Tham E, Wincent J, Ygberg S, Wedell A, Wirta V, Nordgren A, Lundin J, Nilsson D
Genome Med 2019 Nov 7;11(1):68. doi: 10.1186/s13073-019-0675-1. PMID: 31694722Free PMC Article
Goldstone AP, Holland AJ, Hauffa BP, Hokken-Koelega AC, Tauber M; speakers contributors at the Second Expert Meeting of the Comprehensive Care of Patients with PWS
J Clin Endocrinol Metab 2008 Nov;93(11):4183-97. Epub 2008 Aug 12 doi: 10.1210/jc.2008-0649. PMID: 18697869
Kamel A, Norgren S, Lindgren AC, Luthman H, Arner P, Marcus C
Eur J Endocrinol 1998 May;138(5):510-6. doi: 10.1530/eje.0.1380510. PMID: 9625361

Recent clinical studies

Etiology

Schäffers OJM, Hoenderop JGJ, Bindels RJM, de Baaij JHF
Am J Physiol Renal Physiol 2018 Jun 1;314(6):F1027-F1033. Epub 2018 Feb 7 doi: 10.1152/ajprenal.00634.2017. PMID: 29412701
Dang V, Surampalli A, Manzardo AM, Youn S, Butler MG, Gold JA, Kimonis VE
Cytogenet Genome Res 2016;150(1):29-34. Epub 2016 Nov 29 doi: 10.1159/000452611. PMID: 27894106Free PMC Article
Grugni G, Crinò A, Bedogni G, Cappa M, Sartorio A, Corrias A, Di Candia S, Gargantini L, Iughetti L, Pagano C, Ragusa L, Salvatoni A, Spera S, Vettor R, Chiumello G, Brambilla P
Nutr Metab Cardiovasc Dis 2013 Nov;23(11):1134-40. Epub 2012 Dec 7 doi: 10.1016/j.numecd.2012.11.006. PMID: 23220075
Yamazawa K, Ogata T, Ferguson-Smith AC
Am J Med Genet C Semin Med Genet 2010 Aug 15;154C(3):329-34. doi: 10.1002/ajmg.c.30270. PMID: 20803655
Kennerknecht I
Clin Genet 1992 Jun;41(6):303-8. doi: 10.1111/j.1399-0004.1992.tb03403.x. PMID: 1623627

Diagnosis

Salvatore M, Torreri P, Grugni G, Rocchetti A, Maghnie M, Patti G, Crinò A, Elia M, Greco D, Romano C, Franzese A, Mozzillo E, Colao A, Pugliese G, Pagotto U, Lo Preiato V, Scarano E, Schiavariello C, Tornese G, Fintini D, Bocchini S, Osimani S, De Sanctis L, Sacco M, Rutigliano I, Delvecchio M, Faienza MF, Wasniewska M, Corica D, Stagi S, Guazzarotti L, Maffei P, Dassie F, Taruscio D
Orphanet J Rare Dis 2023 Feb 15;18(1):28. doi: 10.1186/s13023-023-02633-5. PMID: 36793093Free PMC Article
Botezatu A, Puiu M, Cucu N, Diaconu CC, Badiu C, Arsene C, Iancu IV, Plesa A, Anton G
Gene 2016 Jan 10;575(2 Pt 1):353-8. Epub 2015 Sep 1 doi: 10.1016/j.gene.2015.08.058. PMID: 26335514
Bittel DC, Butler MG
Expert Rev Mol Med 2005 Jul 25;7(14):1-20. doi: 10.1017/S1462399405009531. PMID: 16038620Free PMC Article
Cassidy SB, Ledbetter DH
Neurol Clin 1989 Feb;7(1):37-54. PMID: 2646521
Bray GA, Dahms WT, Swerdloff RS, Fiser RH, Atkinson RL, Carrel RE
Medicine (Baltimore) 1983 Mar;62(2):59-80. PMID: 6338343

Therapy

Botezatu A, Puiu M, Cucu N, Diaconu CC, Badiu C, Arsene C, Iancu IV, Plesa A, Anton G
Gene 2016 Jan 10;575(2 Pt 1):353-8. Epub 2015 Sep 1 doi: 10.1016/j.gene.2015.08.058. PMID: 26335514
Grugni G, Crinò A, Bosio L, Corrias A, Cuttini M, De Toni T, Di Battista E, Franzese A, Gargantini L, Greggio N, Iughetti L, Livieri C, Naselli A, Pagano C, Pozzan G, Ragusa L, Salvatoni A, Trifirò G, Beccaria L, Bellizzi M, Bellone J, Brunani A, Cappa M, Caselli G, Cerioni V, Delvecchio M, Giardino D, Iannì F, Memo L, Pilotta A, Pomara C, Radetti G, Sacco M, Sanzari A, Sartorio A, Tonini G, Vettor R, Zaglia F, Chiumello G; Genetic Obesity Study Group of Italian Society of Pediatric Endocrinology and Diabetology (ISPED)
Am J Med Genet A 2008 Apr 1;146A(7):861-72. doi: 10.1002/ajmg.a.32133. PMID: 18203198
Farooqi IS
Best Pract Res Clin Endocrinol Metab 2005 Sep;19(3):359-74. doi: 10.1016/j.beem.2005.04.004. PMID: 16150380
Rivera H, Zuffardi O, Gargantini L
Am J Med Genet 1990 Nov;37(3):311-7. doi: 10.1002/ajmg.1320370304. PMID: 2260556
Therman E, Susman B, Denniston C
Ann Hum Genet 1989 Jan;53(1):49-65. doi: 10.1111/j.1469-1809.1989.tb01121.x. PMID: 2658738

Prognosis

Rafi SK, Butler MG
Int J Mol Sci 2020 May 6;21(9) doi: 10.3390/ijms21093296. PMID: 32384786Free PMC Article
Xefteris A, Sekerli E, Arampatzi A, Charisiou S, Oikonomidou E, Efstathiou G, Peroulis N, Malamidou A, Tsoulou-Panidou E, Agakidou E, Sarafidis K, Psarakis A, Kataras T, Daskalakis G
Cytogenet Genome Res 2019;159(3):109-118. Epub 2019 Dec 10 doi: 10.1159/000504159. PMID: 31816617
Liu AP, Tang WF, Lau ET, Chan KY, Kan AS, Wong KY, Tso WW, Jalal K, Lee SL, Chau CS, Chung BH
Am J Med Genet A 2013 Jun;161A(6):1309-18. Epub 2013 Apr 30 doi: 10.1002/ajmg.a.35909. PMID: 23633107
Phelan MC
Orphanet J Rare Dis 2008 May 27;3:14. doi: 10.1186/1750-1172-3-14. PMID: 18505557Free PMC Article
Ledbetter DH, Mascarello JT, Riccardi VM, Harper VD, Airhart SD, Strobel RJ
Am J Hum Genet 1982 Mar;34(2):278-85. PMID: 7072717Free PMC Article

Clinical prediction guides

Schönauer R, Jin W, Findeisen C, Valenzuela I, Devlin LA, Murrell J, Bedoukian EC, Pöschla L, Hantmann E, Riedhammer KM, Hoefele J, Platzer K, Biemann R, Campeau PM, Münch J, Heyne H, Hoffmann A, Ghosh A, Sun W, Dong H, Noé F, Wolfrum C, Woods E, Parker MJ, Neatu R, Le Guyader G, Bruel AL, Perrin L, Spiewak H; Genomics England Research Consortium, Missotte I, Fourgeaud M, Michaud V, Lacombe D, Paolucci SA, Buchan JG, Glissmeyer M, Popp B, Blüher M, Sayer JA, Halbritter J
Am J Hum Genet 2023 Jun 1;110(6):998-1007. Epub 2023 May 18 doi: 10.1016/j.ajhg.2023.04.010. PMID: 37207645Free PMC Article
Castilla-Vallmanya L, Centeno-Pla M, Serrano M, Franco-Valls H, Martínez-Cabrera R, Prat-Planas A, Rojano E, Ranea JAG, Seoane P, Oliva C, Paredes-Fuentes AJ, Marfany G, Artuch R, Grinberg D, Rabionet R, Balcells S, Urreizti R
J Med Genet 2023 Apr;60(4):406-415. Epub 2022 Sep 7 doi: 10.1136/jmg-2022-108690. PMID: 36243518Free PMC Article
Eisfeldt J, Rezayee F, Pettersson M, Lagerstedt K, Malmgren H, Falk A, Grigelioniene G, Lindstrand A
Hum Mutat 2022 Nov;43(11):1567-1575. Epub 2022 Jul 23 doi: 10.1002/humu.24440. PMID: 35842787Free PMC Article
Grugni G, Crinò A, Bedogni G, Cappa M, Sartorio A, Corrias A, Di Candia S, Gargantini L, Iughetti L, Pagano C, Ragusa L, Salvatoni A, Spera S, Vettor R, Chiumello G, Brambilla P
Nutr Metab Cardiovasc Dis 2013 Nov;23(11):1134-40. Epub 2012 Dec 7 doi: 10.1016/j.numecd.2012.11.006. PMID: 23220075
Kennerknecht I
Clin Genet 1992 Jun;41(6):303-8. doi: 10.1111/j.1399-0004.1992.tb03403.x. PMID: 1623627

Supplemental Content

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