Prader-Willi syndrome (paternal deletion)
GPTKB entity
Statements (31)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:cause |
loss of function of paternal genes on chromosome 15q11-q13
|
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:features |
obesity
hypotonia intellectual disability short stature hypogonadism behavioral problems hyperphagia |
| gptkbp:firstDescribed |
gptkb:Andrea_Prader
gptkb:Heinrich_Willi 1956 |
| gptkbp:frequency |
1 in 10,000 to 1 in 30,000 live births
|
| gptkbp:gene |
gptkb:NDN
gptkb:MAGEL2 gptkb:SNORD116 gptkb:SNRPN gptkb:MKRN3 |
| https://www.w3.org/2000/01/rdf-schema#label |
Prader-Willi syndrome (paternal deletion)
|
| gptkbp:ICD-10_code |
Q87.1
|
| gptkbp:inheritance |
not typically inherited, usually de novo
|
| gptkbp:main_genetic_mechanism |
paternal deletion of 15q11-q13 region
|
| gptkbp:OMIM |
176270
|
| gptkbp:other_genetic_mechanisms |
maternal uniparental disomy of chromosome 15
imprinting defects |
| gptkbp:treatment |
behavioral therapy
dietary management growth hormone therapy |
| gptkbp:bfsParent |
gptkb:15q11-q13
|
| gptkbp:bfsLayer |
7
|