Statements (50)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
gptkb:nervous_system
endocrine system musculoskeletal system |
| gptkbp:alsoKnownAs |
gptkb:PWS
|
| gptkbp:category |
genetic disorder
neurological disorder syndrome rare disease |
| gptkbp:causedBy |
loss of function of genes on chromosome 15q11-q13
|
| gptkbp:complication |
gptkb:cardiovascular_disease
gptkb:type_2_diabetes scoliosis sleep apnea |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:eponymOf |
gptkb:Alex_Labhart
gptkb:Andrea_Prader gptkb:Heinrich_Willi |
| gptkbp:fieldOfStudy |
medical genetics
pediatrics endocrinology |
| gptkbp:firstDescribed |
gptkb:Andrea_Prader
gptkb:Heinrich_Willi 1956 |
| gptkbp:hasGeneticCause |
imprinting defect on chromosome 15
maternal uniparental disomy of chromosome 15 paternal deletion of 15q11-q13 |
| https://www.w3.org/2000/01/rdf-schema#label |
Prader-Willi syndrome
|
| gptkbp:ICD-10_code |
Q87.1
|
| gptkbp:inheritance |
sporadic
not typically inherited |
| gptkbp:MeSH_ID |
D011218
|
| gptkbp:OMIM |
176270
|
| gptkbp:parentOrganization |
gptkb:Prader-Willi_Syndrome_Association
|
| gptkbp:prevalence |
1 in 10,000 to 1 in 30,000 live births
|
| gptkbp:symptom |
obesity
hypotonia intellectual disability short stature hypogonadism behavioral problems hyperphagia |
| gptkbp:treatment |
behavioral therapy
dietary management hormone replacement therapy growth hormone therapy |
| gptkbp:bfsParent |
gptkb:chromosome_15
gptkb:Saizen gptkb:IPW |
| gptkbp:bfsLayer |
6
|