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Prader-Willi Syndrome MeSH Descriptor Data 2022


MeSH Heading
Prader-Willi Syndrome
Tree Number(s)
C10.597.606.360.690
C16.131.077.730
C16.131.260.700
C16.320.180.700
C18.654.726.750.500.740
Unique ID
D011218
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D011218
Scope Note
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)
Entry Term(s)
Labhart-Willi Syndrome
Labhart-Willi-Prader-Fanconi Syndrome
Prader Labhart Willi Syndrome
Prader-Labhart-Willi Syndrome
Royer Syndrome
Royer's Syndrome
Willi-Prader Syndrome
NLM Classification #
QS 675
Previous Indexing
Abnormalities, Multiple (1968-1976)
Carbohydrate Metabolism, Inborn Errors (1969-1976)
Hypogonadism (1966-1976)
Mental Retardation (1966-1976)
Obesity (1966-1976)
See Also
Intellectual Disability
Public MeSH Note
1977
History Note
1977
Date Established
1977/01/01
Date of Entry
1976/04/13
Revision Date
2021/07/07
Prader-Willi Syndrome Preferred
Royer Syndrome Related
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