GTR Home > Conditions/Phenotypes > Prader-Willi syndrome

Summary

Excerpted from the GeneReview: Prader-Willi Syndrome
Prader-Willi syndrome (PWS) is characterized by severe hypotonia and feeding difficulties in early infancy, followed in later infancy or early childhood by excessive eating and gradual development of morbid obesity (unless eating is externally controlled). Motor milestones and language development are delayed. All individuals have some degree of cognitive impairment. A distinctive behavioral phenotype (with temper tantrums, stubbornness, manipulative behavior, and obsessive-compulsive characteristics) is common. Hypogonadism is present in both males and females and manifests as genital hypoplasia, incomplete pubertal development, and, in most, infertility. Short stature is common (if not treated with growth hormone); characteristic facial features, strabismus, and scoliosis are often present.

Genes See tests for all associated and related genes

  • Also known as: D15F37S1, MRT38, SHEP1, jdf2, p528, HERC2
    Summary: HECT and RLD domain containing E3 ubiquitin protein ligase 2

  • Also known as: NCRNA00002, IPW
    Summary: imprinted in Prader-Willi syndrome

  • Also known as: NDNL1, PWLS, SHFYNG, nM15, MAGEL2
    Summary: MAGE family member L2

  • Also known as: CPPB2, D15S9, RNF63, ZFP127, ZNF127, MKRN3
    Summary: makorin ring finger protein 3

  • Also known as: FNZ127, MKRN3-AS, MKRN3AS, NCRNA00009, ZNF127-AS, ZNF127AS, MKRN3-AS1
    Summary: MKRN3 antisense RNA 1

  • Also known as: HsT16328, PWCR, NDN
    Summary: necdin, MAGE family member

  • Also known as: C15orf2, NPAP1
    Summary: nuclear pore associated protein 1

  • Also known as: D15S227E, PAR-1, PAR1, PWAR1
    Summary: Prader Willi/Angelman region RNA 1

  • Also known as: NCRNA00198, PWRN1
    Summary: Prader-Willi region non-protein coding RNA 1

  • Also known as: HBII-52-1, RNHBII52, SNORD115-1
    Summary: small nucleolar RNA, C/D box 115-1

  • Also known as: HBII-85-1, PWCR1, SNORD116-1
    Summary: small nucleolar RNA, C/D box 116-1

  • Also known as: HCERN3, PWCR, RT-LI, SM-D, SMN, SNRNP-N, SNURF-SNRPN, sm-N, SNRPN
    Summary: small nuclear ribonucleoprotein polypeptide N

Clinical features

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Practice guidelines

  • ESHG/ASHG, 2015
    Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.
  • ACMG, 2013
    Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
  • AAP, 2011
    Clinical report--health supervision for children with Prader-Willi syndrome.
  • TES, 2008
    Prevention and treatment of pediatric obesity: an endocrine society clinical practice guideline based on expert opinion.
  • ACMG, 2001
    American College of Medical Genetics Statement on Diagnostic Testing for Uniparental Disomy

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