"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.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 1996 | 2 | 0 | 2 |
| 1998 | 0 | 1 | 1 |
| 2004 | 1 | 0 | 1 |
| 2008 | 1 | 0 | 1 |
| 2016 | 1 | 0 | 1 |
| 2018 | 0 | 1 | 1 |
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Below are the most recent publications written about "Prader-Willi Syndrome" by people in Profiles.
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Insights into imprinting from parent-of-origin phased methylomes and transcriptomes. Nat Genet. 2018 11; 50(11):1542-1552.
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Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders. PLoS Genet. 2016 05; 12(5):e1005993.
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Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. Nat Genet. 2008 Jun; 40(6):719-21.
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Deletion analysis of the imprinting center region in patients with Angelman syndrome and Prader-Willi syndrome by real-time quantitative PCR. Genet Test. 2004; 8(4):387-94.
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Sleep-related disorders in neurologic disease during childhood. Pediatr Neurol. 2000 Aug; 23(2):107-13.
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Molecular screening for proximal 15q abnormalities in a mentally retarded population. J Med Genet. 1998 Jul; 35(7):534-8.
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Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kb. Genome Res. 1998 Feb; 8(2):146-57.
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Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: implication for prenatal diagnosis. J Med Genet. 1996 Dec; 33(12):1011-4.
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Longitudinal assessment of hypercapnic ventilatory drive after tracheotomy in a patient with the Prader-Willi syndrome. Eur Respir J. 1996 Jul; 9(7):1565-8.
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Prenatal diagnosis of uniparental disomy 15 following trisomy 15 mosaicism. Prenat Diagn. 1996 Apr; 16(4):323-32.