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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. Autosomal dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0020301
Orphanet:	ORPHA98793

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVPrader-Willi syndrome due to paternal 15q11q13 deletion

Phenotypic abnormality
- Abnormality of prenatal development or birth
  - Fetal anomaly
    - Congenital chromosomal disease
      - Prader-Willi syndrome
        Prader-Willi syndrome due to paternal 15q11q13 deletion

Professional guidelines

PubMed

Clinical Observations and Treatment Approaches for Scoliosis in Prader-Willi Syndrome.

van Bosse HJP, Butler MG
Genes (Basel) 2020 Feb 28;11(3) doi: 10.3390/genes11030260. PMID: 32121146 Free PMC Article

Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An Update.

Butler MG, Miller JL, Forster JL
Curr Pediatr Rev 2019;15(4):207-244. doi: 10.2174/1573396315666190716120925. PMID: 31333129 Free PMC Article

Prader-Willi Syndrome: Clinical Genetics and Diagnostic Aspects with Treatment Approaches.

Butler MG, Manzardo AM, Forster JL
Curr Pediatr Rev 2016;12(2):136-66. doi: 10.2174/1573396312666151123115250. PMID: 26592417 Free PMC Article

See all (17)

Recent clinical studies

Etiology

Genetic subtypes and phenotypic characteristics of 110 patients with Prader-Willi syndrome.

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: 35870983 Free PMC Article

The Spectrum of the Prader-Willi-like Pheno- and Genotype: A Review of the Literature.

Juriaans AF, Kerkhof GF, Hokken-Koelega ACS
Endocr Rev 2022 Jan 12;43(1):1-18. doi: 10.1210/endrev/bnab026. PMID: 34460908

Clinical Observations and Treatment Approaches for Scoliosis in Prader-Willi Syndrome.

van Bosse HJP, Butler MG
Genes (Basel) 2020 Feb 28;11(3) doi: 10.3390/genes11030260. PMID: 32121146 Free PMC Article

Prader-Willi syndrome and early-onset morbid obesity NIH rare disease consortium: A review of natural history study.

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: 29271568 Free PMC Article

Prader-Willi syndrome: From genetics to behaviour, with special focus on appetite treatments.

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

See all (51)

Diagnosis

Prader-Willi syndrome: reflections on seminal studies and future therapies.

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: 32961075 Free PMC Article

Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An Update.

Butler MG, Miller JL, Forster JL
Curr Pediatr Rev 2019;15(4):207-244. doi: 10.2174/1573396315666190716120925. PMID: 31333129 Free PMC Article

Benefits and limitations of prenatal screening for Prader-Willi syndrome.

Butler MG
Prenat Diagn 2017 Jan;37(1):81-94. Epub 2016 Oct 12 doi: 10.1002/pd.4914. PMID: 27537837 Free PMC Article

Prader-Willi Syndrome: Clinical Genetics and Diagnostic Aspects with Treatment Approaches.

Butler MG, Manzardo AM, Forster JL
Curr Pediatr Rev 2016;12(2):136-66. doi: 10.2174/1573396312666151123115250. PMID: 26592417 Free PMC Article

Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings.

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: 26062517 Free PMC Article

See all (76)

Therapy

Effect of semaglutide on weight loss and glycaemic control in patients with Prader-Willi Syndrome and type 2 diabetes.

Giménez-Palop O, Romero A, Casamitjana L, Pareja R, Rigla M, Caixàs A
Endocrinol Diabetes Nutr (Engl Ed) 2024 Feb;71(2):83-87. doi: 10.1016/j.endien.2023.12.001. PMID: 38553173

Comparison of perinatal factors in deletion versus uniparental disomy in Prader-Willi syndrome.

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: 29681103 Free PMC Article

Comparative molecular approaches in Prader-Willi syndrome diagnosis.

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

Molecular epigenetics of Angelman syndrome.

Lalande M, Calciano MA
Cell Mol Life Sci 2007 Apr;64(7-8):947-60. doi: 10.1007/s00018-007-6460-0. PMID: 17347796 Free PMC Article

Psychiatric disorders in Prader-Willi syndrome: epidemiology and management.

Dykens E, Shah B
CNS Drugs 2003;17(3):167-78. doi: 10.2165/00023210-200317030-00003. PMID: 12617696

See all (9)

Prognosis

Multicentre study of maternal and neonatal outcomes in individuals with Prader-Willi syndrome.

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: 29776967 Free PMC Article

Prader-Willi syndrome and early-onset morbid obesity NIH rare disease consortium: A review of natural history study.

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: 29271568 Free PMC Article

Prader-Willi Syndrome: Clinical Genetics and Diagnostic Aspects with Treatment Approaches.

Butler MG, Manzardo AM, Forster JL
Curr Pediatr Rev 2016;12(2):136-66. doi: 10.2174/1573396312666151123115250. PMID: 26592417 Free PMC Article

Psychiatric disorders in Prader-Willi syndrome: epidemiology and management.

Dykens E, Shah B
CNS Drugs 2003;17(3):167-78. doi: 10.2165/00023210-200317030-00003. PMID: 12617696

Prader-Willi syndrome: new insights in the behavioural and psychiatric spectrum.

Descheemaeker MJ, Vogels A, Govers V, Borghgraef M, Willekens D, Swillen A, Verhoeven W, Fryns JP
J Intellect Disabil Res 2002 Jan;46(Pt 1):41-50. doi: 10.1046/j.1365-2788.2002.00354.x. PMID: 11851855

See all (10)

Clinical prediction guides

Clinical Trials in Prader-Willi Syndrome: A Review.

Mahmoud R, Kimonis V, Butler MG
Int J Mol Sci 2023 Jan 21;24(3) doi: 10.3390/ijms24032150. PMID: 36768472 Free PMC Article

Prader-Willi syndrome: reflections on seminal studies and future therapies.

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: 32961075 Free PMC Article

Clinical Observations and Treatment Approaches for Scoliosis in Prader-Willi Syndrome.

van Bosse HJP, Butler MG
Genes (Basel) 2020 Feb 28;11(3) doi: 10.3390/genes11030260. PMID: 32121146 Free PMC Article

Psychiatric disorders in Prader-Willi syndrome: epidemiology and management.

Dykens E, Shah B
CNS Drugs 2003;17(3):167-78. doi: 10.2165/00023210-200317030-00003. PMID: 12617696

Parental imprinting and human disease.

Lalande M
Annu Rev Genet 1996;30:173-95. doi: 10.1146/annurev.genet.30.1.173. PMID: 8982453

See all (51)