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GTR Home > Conditions/Phenotypes > Prader-Willi syndrome

Prader-Willi syndrome

Synonyms
Obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet; Prader Labhart Willi syndrome
Modes of inheritance
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)

Summary

Excerpted from the GeneReview: Prader-Willi Syndrome
Prader-Willi syndrome (PWS) is characterized by severe hypotonia, poor appetite, and feeding difficulties in early infancy, followed in early childhood by excessive eating and gradual development of morbid obesity (unless food intake is strictly controlled). Motor milestones and language development are delayed. All individuals have some degree of cognitive impairment. 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). A distinctive behavioral phenotype (temper tantrums, stubbornness, manipulative behavior, and obsessive-compulsive characteristics) is common. Characteristic facial features, strabismus, and scoliosis are often present.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Daniel J Driscoll
Jennifer L Miller
Suzanne B Cassidy
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Available tests

128 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (128 available)

Cytogenetics Tests

Molecular Genetics Tests

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

  • 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: LOHAN1, 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

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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