Skip navigation

Disease Prader-Willi Syndrome

Name Prader-Willi Syndrome
Synonyms Labhart Willi Prader Fanconi Syndrome | Labhart-Willi-Prader-Fanconi Syndrome | Labhart Willi Syndrome | Labhart-Willi Syndrome | Prader Labhart Willi Syndrome | Prader-Labhart-Willi Syndrome | PRADER-LABHART-WILLI SYNDROME PRADER-WILLI SYNDROME CHROMOSOME REGION, INCLUDED | PRADER-WILLI-LIKE SYNDROME ASSOCIATED WITH CHROMOSOME 6, INCLUDED | Prader Willi Syndrome | PWCR, INCLUDED | PWS | Royer's Syndrome | Royers Syndrome | Royer Syndrome | Syndrome, Labhart-Willi | Syndrome, Labhart-Willi-Prader-Fanconi | Syndrome, Prader-Labhart-Willi | Syndrome, Prader-Willi | Syndrome, Royer | Syndrome, Royer's | Syndrome, Willi-Prader | Willi Prader Syndrome | Willi-Prader Syndrome
Definition An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229)
Categories Congenital abnormality | Genetic disease (inborn) | Nervous system disease | Nutrition disorder
MeSH® ID D011218
OMIM® ID 176270
External Links

Top ↑ Ancestors

1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Neurologic Manifestations Has associated chemicals Has associated genes Has associated exposure references Neurobehavioral Manifestations Has associated chemicals Has associated genes Has associated exposure references Intellectual Disability Has associated chemicals Has associated genes Has associated exposure references Prader-Willi Syndrome Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Abnormalities, Multiple Has associated chemicals Has associated genes Prader-Willi Syndrome Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Chromosome Disorders Has associated chemicals Has associated genes Prader-Willi Syndrome Has associated chemicals Has associated genes
4. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Chromosome Disorders Has associated chemicals Has associated genes Prader-Willi Syndrome Has associated chemicals Has associated genes
5. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Nutrition Disorders Has associated chemicals Has associated genes Has associated exposure references Overnutrition Has associated chemicals Has associated genes Has associated exposure references Obesity Has associated chemicals Has associated genes Has associated exposure references Prader-Willi Syndrome Has associated chemicals Has associated genes

Top ↑ Descendants

Prader-Willi Syndrome Has associated chemicals Has associated genes
  Prader-Willi habitus, osteopenia, and camptodactyly
  Prader-Willi-Like Syndrome Associated With Chromosome 6