 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 |
|---|
| 2008 | 0 | 1 | 1 | | 2010 | 1 | 1 | 2 | | 2012 | 1 | 0 | 1 | | 2013 | 1 | 0 | 1 | | 2016 | 3 | 0 | 3 | | 2017 | 3 | 0 | 3 | | 2018 | 2 | 0 | 2 | | 2019 | 1 | 1 | 2 | | 2021 | 1 | 0 | 1 | | 2022 | 1 | 0 | 1 | | 2023 | 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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Roof E, Deal CL, McCandless SE, Cowan RL, Miller JL, Hamilton JK, Roeder ER, McCormack SE, Roshan Lal TR, Abdul-Latif HD, Haqq AM, Obrynba KS, Torchen LC, Vidmar AP, Viskochil DH, Chanoine JP, Lam CKL, Pierce MJ, Williams LL, Bird LM, Butler MG, Jensen DE, Myers SE, Oatman OJ, Baskaran C, Chalmers LJ, Fu C, Alos N, McLean SD, Shah A, Whitman BY, Blumenstein BA, Leonard SF, Ernest JP, Cormier JW, Cotter SP, Ryman DC. 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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Duis J, Pullen LC, Picone M, Friedman N, Hawkins S, Sannar E, Pfalzer AC, Shelton AR, Singh D, Zee PC, Glaze DG, Revana A. 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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Gantz MG, Driscoll DJ, Miller JL, Duis JB, Butler MG, Gourash L, Forster J, Scheimann AO. 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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Shelkowitz E, Gantz MG, Ridenour TA, Scheimann AO, Strong T, Bohonowych J, Duis J. Neuropsychiatric features of Prader-Willi syndrome. Am J Med Genet A. 2022 05; 188(5):1457-1463.
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Bohonowych JE, Vrana-Diaz CJ, Miller JL, McCandless SE, Strong TV. Incidence of strabismus, strabismus surgeries, and other vision conditions in Prader-Willi syndrome: data from the Global Prader-Willi Syndrome Registry. BMC Ophthalmol. 2021 Aug 12; 21(1):296.
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Schwartz L, Caix?s A, Dimitropoulos A, Dykens E, Duis J, Einfeld S, Gallagher L, Holland A, Rice L, Roof E, Salehi P, Strong T, Taylor B, Woodcock K. Behavioral features in Prader-Willi syndrome (PWS): consensus paper from the International PWS Clinical Trial Consortium. J Neurodev Disord. 2021 06 21; 13(1):25.
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Forster J, Duis J, Butler MG. Pharmacogenetic Testing of Cytochrome P450 Drug Metabolizing Enzymes in a Case Series of Patients with Prader-Willi Syndrome. Genes (Basel). 2021 01 24; 12(2).
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Bohonowych J, Miller J, McCandless SE, Strong TV. The Global Prader-Willi Syndrome Registry: Development, Launch, and Early Demographics. Genes (Basel). 2019 09 14; 10(9).
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Khanna AD, Duca LM, Kay JD, Shore J, Kelly SL, Crume T. Prevalence of Mental Illness in Adolescents and Adults With Congenital Heart Disease from the Colorado Congenital Heart Defect Surveillance System. Am J Cardiol. 2019 08 15; 124(4):618-626.
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Duis J, van Wattum PJ, Scheimann A, Salehi P, Brokamp E, Fairbrother L, Childers A, Shelton AR, Bingham NC, Shoemaker AH, Miller JL. A multidisciplinary approach to the clinical management of Prader-Willi syndrome. Mol Genet Genomic Med. 2019 03; 7(3):e514.
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