Prader-Labhart-Willi syndrome
GPTKB entity
Statements (43)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:abbreviation |
gptkb:PWS
|
| gptkbp:affects |
adults
children |
| gptkbp:alsoKnownAs |
gptkb:Prader-Willi_syndrome
|
| gptkbp:category |
genetic disorder
syndrome 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 |
| https://www.w3.org/2000/01/rdf-schema#label |
Prader-Labhart-Willi syndrome
|
| 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 |
obesity
hypotonia intellectual disability short stature hypogonadism behavioral problems hyperphagia |
| gptkbp:treatment |
behavioral therapy
dietary management growth hormone therapy |
| gptkbp:bfsParent |
gptkb:Andrea_Prader
|
| gptkbp:bfsLayer |
8
|