Prader-Labhart-Willi syndrome

URI: https://gptkb.org/entity/Prader-Labhart-Willi_syndrome
GPTKB entity
Statements (43)
Predicate Object
gptkbp:instanceOf gptkb:genetic_disorder
gptkbp:abbreviation gptkb:PWS
gptkbp:affects adults
children
gptkbp:alsoKnownAs gptkb:Prader-Willi_syndrome
gptkbp:category gptkb:syndrome
gptkb:genetic_disorder
gptkb:rare_disease
gptkbp:causedBy maternal uniparental disomy of chromosome 15
deletion on chromosome 15q11-q13
gptkbp:complication gptkb:bone
gptkb:type_2_diabetes
infertility
scoliosis
sleep apnea
gptkbp:diagnosedBy genetic testing
gptkbp:field medical genetics
gptkbp:firstDescribed gptkb:Alex_Labhart
gptkb:Andrea_Prader
gptkb:Heinrich_Willi
1956
gptkbp:ICD-10_code Q87.1
gptkbp:inheritance not typically inherited
gptkbp:MeSH_ID D011330
gptkbp:namedAfter gptkb:Alex_Labhart
gptkb:Andrea_Prader
gptkb:Heinrich_Willi
gptkbp:OMIM 176270
gptkbp:prevalence 1 in 10,000 to 1 in 30,000 live births
gptkbp:riskFactor paternal deletion of chromosome 15
gptkbp:symptom gptkb:intellectual_disability
obesity
hypotonia
short stature
hypogonadism
behavioral problems
hyperphagia
gptkbp:treatment behavioral therapy
dietary management
growth hormone therapy
gptkbp:bfsParent gptkb:Andrea_Prader
gptkbp:bfsLayer 8
https://www.w3.org/2000/01/rdf-schema#label Prader-Labhart-Willi syndrome