"Prader-Willi Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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)
| Descriptor ID |
D011218
|
| MeSH Number(s) |
C10.597.606.643.690 C16.131.077.730 C16.131.260.700 C16.320.180.700 C18.654.726.500.740
|
| Concept/Terms |
Prader-Willi Syndrome- Prader-Willi Syndrome
- Prader Willi Syndrome
- Syndrome, Prader-Willi
- Willi-Prader Syndrome
- Syndrome, Willi-Prader
- Willi Prader Syndrome
- Prader Labhart Willi Syndrome
- Prader-Labhart-Willi Syndrome
- Syndrome, Prader-Labhart-Willi
- Labhart-Willi Syndrome
- Labhart Willi Syndrome
- Syndrome, Labhart-Willi
- Labhart-Willi-Prader-Fanconi Syndrome
- Labhart Willi Prader Fanconi Syndrome
- Syndrome, Labhart-Willi-Prader-Fanconi
Royer Syndrome- Royer Syndrome
- Syndrome, Royer
- Royer's Syndrome
- Royers Syndrome
- Syndrome, Royer's
|
Below are MeSH descriptors whose meaning is more general than "Prader-Willi Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Prader-Willi Syndrome".
This graph shows the total number of publications written about "Prader-Willi Syndrome" by people in this website by year, and whether "Prader-Willi Syndrome" was a major or minor topic of these publications.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1997 | 1 | 0 | 1 |
| 1998 | 2 | 0 | 2 |
| 2002 | 0 | 1 | 1 |
| 2004 | 0 | 1 | 1 |
| 2007 | 3 | 0 | 3 |
| 2008 | 4 | 0 | 4 |
| 2010 | 1 | 0 | 1 |
| 2011 | 1 | 1 | 2 |
| 2012 | 2 | 0 | 2 |
| 2013 | 2 | 0 | 2 |
| 2014 | 1 | 0 | 1 |
| 2015 | 2 | 0 | 2 |
| 2016 | 2 | 1 | 3 |
| 2017 | 2 | 1 | 3 |
| 2018 | 4 | 0 | 4 |
| 2019 | 2 | 0 | 2 |
| 2020 | 1 | 0 | 1 |
| 2021 | 1 | 0 | 1 |
| 2022 | 4 | 0 | 4 |
| 2023 | 2 | 0 | 2 |
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Below are the most recent publications written about "Prader-Willi Syndrome" by people in Profiles.
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Intranasal Carbetocin Reduces Hyperphagia, Anxiousness, and Distress in Prader-Willi Syndrome: CARE-PWS Phase 3 Trial. J Clin Endocrinol Metab. 2023 06 16; 108(7):1696-1708.
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Magel2 truncation alters select behavioral and physiological outcomes in a rat model of Schaaf-Yang syndrome. Dis Model Mech. 2023 02 01; 16(2).
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Diagnosis and management of sleep disorders in Prader-Willi syndrome. J Clin Sleep Med. 2022 06 01; 18(6):1687-1696.
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Critical review of bariatric surgical outcomes in patients with Prader-Willi syndrome and other hyperphagic disorders. Obesity (Silver Spring). 2022 05; 30(5):973-981.
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Establishing the content validity of the Epworth Sleepiness Scale for Children and Adolescents in Prader-Willi syndrome. J Clin Sleep Med. 2022 Feb 01; 18(2):485-496.
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Neuropsychiatric features of Prader-Willi syndrome. Am J Med Genet A. 2022 05; 188(5):1457-1463.
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Evaluating Sleep Disturbances in Children With Rare Genetic Neurodevelopmental Syndromes. Pediatr Neurol. 2021 10; 123:30-37.
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The adult phenotype of Schaaf-Yang syndrome. Orphanet J Rare Dis. 2020 10 19; 15(1):294.
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The modified Atkins diet in children with Prader-Willi syndrome. Orphanet J Rare Dis. 2020 06 03; 15(1):135.
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mTOR and autophagy pathways are dysregulated in murine and human models of Schaaf-Yang syndrome. Sci Rep. 2019 11 04; 9(1):15935.