 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 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 |
|---|
| 2024 | 1 | 0 | 1 |
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Below are the most recent publications written about "Prader-Willi Syndrome" by people in Profiles.
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Griffing E, Halpin K, Lee BR, Paprocki E. Premature pubarche in Prader-Willi syndrome: Risk factors and consequences. Clin Endocrinol (Oxf). 2024 Aug; 101(2):162-169.
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Butler MG, Bittel DC, Kibiryeva N, Cooley LD, Yu S. An interstitial 15q11-q14 deletion: expanded Prader-Willi syndrome phenotype. Am J Med Genet A. 2010 Feb; 152A(2):404-8.
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Butler MG, Fischer W, Kibiryeva N, Bittel DC. Array comparative genomic hybridization (aCGH) analysis in Prader-Willi syndrome. Am J Med Genet A. 2008 Apr 01; 146A(7):854-60.
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Bittel DC, Kibiryeva N, McNulty SG, Driscoll DJ, Butler MG, White RA. Whole genome microarray analysis of gene expression in an imprinting center deletion mouse model of Prader-Willi syndrome. Am J Med Genet A. 2007 Mar 01; 143A(5):422-9.
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Butler MG, Theodoro MF, Bittel DC, Kuipers PJ, Driscoll DJ, Talebizadeh Z. X-chromosome inactivation patterns in females with Prader-Willi syndrome. Am J Med Genet A. 2007 Mar 01; 143A(5):469-75.
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Bittel DC, Kibiryeva N, Sell SM, Strong TV, Butler MG. Whole genome microarray analysis of gene expression in Prader-Willi syndrome. Am J Med Genet A. 2007 Mar 01; 143A(5):430-42.
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Bittel DC, Kibiryeva N, Butler MG. Methylation-specific multiplex ligation-dependent probe amplification analysis of subjects with chromosome 15 abnormalities. Genet Test. 2007; 11(4):467-75.
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Theodoro MF, Talebizadeh Z, Butler MG. Body composition and fatness patterns in Prader-Willi syndrome: comparison with simple obesity. Obesity (Silver Spring). 2006 Oct; 14(10):1685-90.
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Bittel DC, Kibiryeva N, Butler MG. Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome. Pediatrics. 2006 Oct; 118(4):e1276-83.
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Butler MG, Bittel DC, Kibiryeva N, Garg U. C-reactive protein levels in subjects with Prader-Willi syndrome and obesity. Genet Med. 2006 Apr; 8(4):243-8.
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