U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Genotype-phenotype correlation in Prader-Willi syndrome: A large-sample analysis in China.
Mao S, Yang L, Gao Y, Zou C
Clin Genet 2024 Apr;105(4):415-422. Epub 2024 Jan 23 doi: 10.1111/cge.14477. PMID: 38258470
Assessing the Clinical Utility of SNP Microarray for Prader-Willi Syndrome due to Uniparental Disomy.
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
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

Recent clinical studies

Etiology

Proteins and proteases of Prader-Willi syndrome: a comprehensive review and perspectives.
Basak S, Basak A
Biosci Rep 2022 Jun 30;42(6) doi: 10.1042/BSR20220610. PMID: 35621394Free PMC Article
Perinatal features of Prader-Willi syndrome: a Chinese cohort of 134 patients.
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
Anthropometric characteristics of newborns with Prader-Willi syndrome.
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
Mechanistic insights into the genetics of affective psychosis from Prader-Willi syndrome.
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
Autistic-like symptomatology in Prader-Willi syndrome: a review of recent findings.
Dimitropoulos A, Schultz RT
Curr Psychiatry Rep 2007 Apr;9(2):159-64. doi: 10.1007/s11920-007-0086-7. PMID: 17389128

Diagnosis

Proteins and proteases of Prader-Willi syndrome: a comprehensive review and perspectives.
Basak S, Basak A
Biosci Rep 2022 Jun 30;42(6) doi: 10.1042/BSR20220610. PMID: 35621394Free 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: 32961075Free PMC Article
Prenatal diagnosis of Prader-Willi syndrome due to uniparental disomy with NIPS: Case report and literature review.
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
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: 26062517Free PMC Article
Prader-Willi syndrome.
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

Molecular subtype and growth hormone effects on dysmorphology in Prader-Willi syndrome.
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
Frequency of Prader-Willi syndrome in births conceived via assisted reproductive technology.
Gold JA, Ruth C, Osann K, Flodman P, McManus B, Lee HS, Donkervoort S, Khare M, Roof E, Dykens E, Miller JL, Driscoll DJ, Butler MG, Heinemann J, Cassidy S, Kimonis VE
Genet Med 2014 Feb;16(2):164-9. Epub 2013 Aug 8 doi: 10.1038/gim.2013.97. PMID: 23928912Free PMC Article
Prader-Willi syndrome.
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
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: 17347796Free 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

Prognosis

Congenital ichthyosis in Prader-Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD.
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
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: 29776967Free PMC Article
Prader-Willi syndrome--a study comparing deletion and uniparental disomy cases with reference to autism spectrum disorders.
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
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
Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15.
Cassidy SB, Forsythe M, Heeger S, Nicholls RD, Schork N, Benn P, Schwartz S
Am J Med Genet 1997 Feb 11;68(4):433-40. PMID: 9021017

Clinical prediction guides

Diagnosis of Prader-Willi syndrome and Angelman syndrome by targeted nanopore long-read sequencing.
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
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: 32961075Free PMC Article
Mechanistic insights into the genetics of affective psychosis from Prader-Willi syndrome.
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
Prader-Willi syndrome genetic subtypes and clinical neuropsychiatric diagnoses in residential care adults.
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
Assessing the Clinical Utility of SNP Microarray for Prader-Willi Syndrome due to Uniparental Disomy.
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

Recent systematic reviews

Psychotic illness in people with Prader-Willi syndrome: a systematic review of clinical presentation, course and phenomenology.
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
Prader-Willi-like phenotypes: a systematic review of their chromosomal abnormalities.
Rocha CF, Paiva CL
Genet Mol Res 2014 Mar 31;13(1):2290-8. doi: 10.4238/2014.March.31.9. PMID: 24737477

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...