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Prader-Willi syndrome due to paternal 15q11q13 deletion

MedGen UID:
1826129
Concept ID:
C5681699
Disease or Syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0020301
Orphanet: ORPHA98793

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPrader-Willi syndrome due to paternal 15q11q13 deletion

Professional guidelines

PubMed

Juriaans AF, Kerkhof GF, Hokken-Koelega ACS
Endocr Rev 2022 Jan 12;43(1):1-18. doi: 10.1210/endrev/bnab026. PMID: 34460908
van Bosse HJP, Butler MG
Genes (Basel) 2020 Feb 28;11(3) doi: 10.3390/genes11030260. PMID: 32121146Free PMC Article
Butler MG, Miller JL, Forster JL
Curr Pediatr Rev 2019;15(4):207-244. doi: 10.2174/1573396315666190716120925. PMID: 31333129Free PMC Article

Recent clinical studies

Etiology

Zhang L, Liu X, Zhao Y, Wang Q, Zhang Y, Gao H, Zhang B, Cui W, Zhao Y
Ital J Pediatr 2022 Jul 23;48(1):121. doi: 10.1186/s13052-022-01319-1. PMID: 35870983Free PMC Article
Juriaans AF, Kerkhof GF, Hokken-Koelega ACS
Endocr Rev 2022 Jan 12;43(1):1-18. doi: 10.1210/endrev/bnab026. PMID: 34460908
van Bosse HJP, Butler MG
Genes (Basel) 2020 Feb 28;11(3) doi: 10.3390/genes11030260. PMID: 32121146Free PMC Article
Butler MG, Kimonis V, Dykens E, Gold JA, Miller J, Tamura R, Driscoll DJ
Am J Med Genet A 2018 Feb;176(2):368-375. Epub 2017 Dec 22 doi: 10.1002/ajmg.a.38582. PMID: 29271568Free PMC Article
Griggs JL, Sinnayah P, Mathai ML
Neurosci Biobehav Rev 2015 Dec;59:155-72. Epub 2015 Oct 22 doi: 10.1016/j.neubiorev.2015.10.003. PMID: 26475993

Diagnosis

Juriaans AF, Kerkhof GF, Hokken-Koelega ACS
Endocr Rev 2022 Jan 12;43(1):1-18. doi: 10.1210/endrev/bnab026. PMID: 34460908
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
Butler MG, Miller JL, Forster JL
Curr Pediatr Rev 2019;15(4):207-244. doi: 10.2174/1573396315666190716120925. PMID: 31333129Free PMC Article
Butler MG
Prenat Diagn 2017 Jan;37(1):81-94. Epub 2016 Oct 12 doi: 10.1002/pd.4914. PMID: 27537837Free 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

Therapy

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
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
Butler MG, Roberts J, Hayes J, Tan X, Manzardo AM
Am J Med Genet A 2013 Jul;161A(7):1647-53. Epub 2013 May 21 doi: 10.1002/ajmg.a.35980. PMID: 23696513Free 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, Kimonis V, Dykens E, Gold JA, Miller J, Tamura R, Driscoll DJ
Am J Med Genet A 2018 Feb;176(2):368-375. Epub 2017 Dec 22 doi: 10.1002/ajmg.a.38582. PMID: 29271568Free PMC Article
Butler MG, Manzardo AM, Forster JL
Curr Pediatr Rev 2016;12(2):136-66. doi: 10.2174/1573396312666151123115250. PMID: 26592417Free PMC Article
Dykens E, Shah B
CNS Drugs 2003;17(3):167-78. doi: 10.2165/00023210-200317030-00003. PMID: 12617696

Clinical prediction guides

Mahmoud R, Kimonis V, Butler MG
Int J Mol Sci 2023 Jan 21;24(3) doi: 10.3390/ijms24032150. PMID: 36768472Free 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
van Bosse HJP, Butler MG
Genes (Basel) 2020 Feb 28;11(3) doi: 10.3390/genes11030260. PMID: 32121146Free PMC Article
Butler MG, Kimonis V, Dykens E, Gold JA, Tamura R, Miller JL, Driscoll DJ
Am J Med Genet A 2019 Aug;179(8):1531-1534. Epub 2019 Jun 21 doi: 10.1002/ajmg.a.61263. PMID: 31225937Free PMC Article
Dykens E, Shah B
CNS Drugs 2003;17(3):167-78. doi: 10.2165/00023210-200317030-00003. PMID: 12617696

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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