Prader-Willi Syndrome

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)

Also Known As:

Syndrome, Prader-Willi; Labhart Willi Syndrome; Labhart-Willi-Prader-Fanconi Syndrome; Prader Labhart Willi Syndrome; Prader-Labhart-Willi Syndrome; Royer's Syndrome; Willi-Prader Syndrome; Labhart Willi Prader Fanconi Syndrome; Prader Willi Syndrome; Royers Syndrome; Syndrome, Labhart-Willi; Syndrome, Labhart-Willi-Prader-Fanconi; Syndrome, Prader-Labhart-Willi; Syndrome, Royer; Syndrome, Royer's; Syndrome, Willi-Prader; Willi Prader Syndrome; Labhart-Willi Syndrome; Royer Syndrome

Nervous System Diseases: 14737
- Neurologic Manifestations: 7223
  - Neurobehavioral Manifestations: 1632
    - Intellectual Disability: 8222
      - Prader-Willi Syndrome: 1169
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Multiple Abnormalities: 213
    - Prader-Willi Syndrome: 1169
  - Chromosome Disorders: 140
    - Prader-Willi Syndrome: 1169
- Inborn Genetic Diseases: 12342
  - Chromosome Disorders: 140
    - Prader-Willi Syndrome: 1169
  - Imprinting Disorders: 66
    - Prader-Willi Syndrome: 1169
Nutritional and Metabolic Diseases: 15
- Nutrition Disorders: 417
  - Overnutrition: 645
    - Overweight: 22428
      - Obesity: 112416
        Prader-Willi Syndrome: 1169

Sophie Çabal Berthoumieu Selected Research

Sophie Çabal Berthoumieu Research Topics

Disease

Drug/Important Bio-Agent (IBA)