Prader-Willi syndrome

GPTKB entity

Statements (47)
Predicate Object
gptkbp:instanceOf genetic disorder
gptkbp:associatedWith sleep apnea
learning difficulties
hypogonadism
imprinting disorder
skin picking behavior
gptkbp:causedBy deletion of paternal chromosome 15
gptkbp:clinicalTrials ongoing studies
behavioral therapy trials
dietary intervention studies
genetic therapy trials
hormonal therapy trials
gptkbp:demographics 1 in 15,000 to 1 in 30,000 births
gptkbp:diseaseResistance genetic testing
gptkbp:first_appearance 1956
gptkbp:geneticDiversity 15q11.2-q13
https://www.w3.org/2000/01/rdf-schema#label Prader-Willi syndrome
gptkbp:impact psychological support
dietary management
hormone therapy
gptkbp:introduced A. Prader
gptkbp:legalEvent reduced life expectancy
gptkbp:nobleFamily not inherited
gptkbp:relatedPatent gptkb:Turner_syndrome
gptkb:Bardet-Biedl_syndrome
gptkb:Angelman_syndrome
gptkb:Klinefelter_syndrome
gptkb:Smith-Magenis_syndrome
gptkbp:researchFocus behavioral interventions
genetic mechanisms
hormonal treatments
treatment options
dietary strategies
gptkbp:riskManagement advanced paternal age
de novo mutations
gptkbp:supports gptkb:Prader-Willi_Syndrome_Association
educational support
medical care
social skills training
nutritional guidance
family counseling
gptkbp:symptoms obesity
intellectual disability
behavioral problems
short stature
hypotonia
hyperphagia