 Prader-Willi Syndrome
"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
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| 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
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| 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
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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 UAMS Profiles 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 |
|---|
| 2022 | 1 | 0 | 1 | | 2020 | 0 | 1 | 1 | | 2017 | 0 | 1 | 1 | | 2008 | 1 | 0 | 1 | | 2007 | 0 | 1 | 1 | | 2003 | 0 | 1 | 1 |
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Below are the most recent publications written about "Prader-Willi Syndrome" by people in Profiles over the past ten years.
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Knott B, Kocher MA, Paz HA, Hamm SE, Fink W, Mason J, Grange RW, Wankhade UD, Good DJ. Dietary Conjugated Linoleic Acid Reduces Body Weight and Fat in Snord116m+/p- and Snord116m-/p- Mouse Models of Prader-Willi Syndrome. Nutrients. 2022 Feb 18; 14(4).
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Blackburn PR, Sullivan AE, Gerassimou AG, Kleinendorst L, Bersten DC, Cooiman M, Harris KG, Wierenga KJ, Klee EW, van Gerpen JA, Ross OA, van Haelst MM, Whitelaw ML, Caulfield TR, Atwal PS. Functional Analysis of the SIM1 Variant p.G715V in 2 Patients With Obesity. J Clin Endocrinol Metab. 2020 01 01; 105(1).
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Tanaka AJ, Cho MT, Willaert R, Retterer K, Zarate YA, Bosanko K, Stefans V, Oishi K, Williamson A, Wilson GN, Basinger A, Barbaro-Dieber T, Ortega L, Sorrentino S, Gabriel MK, Anderson IJ, Sacoto MJG, Schnur RE, Chung WK. De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism. Cold Spring Harb Mol Case Stud. 2017 Nov; 3(6).
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