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Descriptor English: Prader-Willi Syndrome
Descriptor Spanish: Síndrome de Prader-Willi
Descriptor síndrome de Prader-Willi
Entry term(s) síndrome de Labhart-Willi
síndrome de Royer
Scope note: Trastorno autosómico dominante causado por la supresión de la porción proximal del brazo largo del cromosoma 15 (15q11-q13) o por herencia materna del par de cromosomas 15 (DISOMÍA UNIPARENTAL) que se encuentran impresos (IMPRESIÓN GENÉTICA) y por lo tanto silenciados. Entre las manifestaciones clínicas se encuentran: RETARDO MENTAL, HIPOTONÍA MUSCULAR, HIPERFAGIA, OBESIDAD, baja estatura, HIPOGONADISMO, ESTRABISMO, e HIPERSOMNOLENCIA. (Menkes, Textbook of Child Neurology, 5th ed, p229)
Descriptor Portuguese: Síndrome de Prader-Willi
Descriptor French: Syndrome de Prader-Willi
Entry term(s): Labhart Willi Prader Fanconi Syndrome
Labhart Willi Syndrome
Labhart-Willi Syndrome
Labhart-Willi-Prader-Fanconi Syndrome
Prader Labhart Willi Syndrome
Prader Willi Syndrome
Prader-Labhart-Willi Syndrome
Royer Syndrome
Royer's Syndrome
Royers Syndrome
Syndrome, Labhart-Willi
Syndrome, Labhart-Willi-Prader-Fanconi
Syndrome, Prader-Labhart-Willi
Syndrome, Prader-Willi
Syndrome, Royer
Syndrome, Royer's
Syndrome, Willi-Prader
Willi Prader Syndrome
Willi-Prader 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
RDF Unique Identifier: https://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)
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Previous Indexing: Abnormalities, Multiple (1968-1976)
Carbohydrate Metabolism, Inborn Errors (1969-1976)
Hypogonadism (1966-1976)
Mental Retardation (1966-1976)
Obesity (1966-1976)
Public MeSH Note: 1977
History Note: 1977
Related: Intellectual Disability MeSH
DeCS ID: 11655
Unique ID: D011218
NLM Classification: QS 675
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1977/01/01
Date of Entry: 1976/04/13
Revision Date: 2018/07/01
Prader-Willi Syndrome - Preferred
Concept UI M0017431
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)
Preferred term Prader-Willi Syndrome
Entry term(s) Labhart Willi Prader Fanconi Syndrome
Labhart Willi Syndrome
Labhart-Willi Syndrome
Labhart-Willi-Prader-Fanconi Syndrome
Prader Labhart Willi Syndrome
Prader Willi Syndrome
Prader-Labhart-Willi Syndrome
Syndrome, Labhart-Willi
Syndrome, Labhart-Willi-Prader-Fanconi
Syndrome, Prader-Labhart-Willi
Syndrome, Prader-Willi
Syndrome, Willi-Prader
Willi Prader Syndrome
Willi-Prader Syndrome
Royer Syndrome - Related but not broader or narrower
Concept UI M0335754
Scope note An association of DIABETES MELLITUS with Prader-Willi Syndrome.
Preferred term Royer Syndrome
Entry term(s) Royer's Syndrome
Royers Syndrome
Syndrome, Royer
Syndrome, Royer's



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