Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:affects |
adults
children |
| gptkbp:causedBy |
mosaic mutation in AKT1 gene
|
| gptkbp:characterizedBy |
vascular malformations
asymmetric growth connective tissue nevi overgrowth of bones overgrowth of skin overgrowth of tissues |
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
| gptkbp:firstDescribed |
1979
Michael Cohen Jr. |
| gptkbp:frequency |
less than 1 in 1,000,000 people
|
| https://www.w3.org/2000/01/rdf-schema#label |
Proteus syndrome
|
| gptkbp:ICD-10_code |
Q87.0
|
| gptkbp:inheritance |
not inherited (sporadic mutation)
|
| gptkbp:namedAfter |
gptkb:Proteus_(Greek_god)
|
| gptkbp:notableCase |
Joseph Merrick (The Elephant Man)
|
| gptkbp:OMIM |
176920
|
| gptkbp:prevalence |
extremely rare
|
| gptkbp:prognosis |
variable
|
| gptkbp:symptom |
tumors
skeletal abnormalities skin lesions disproportionate growth |
| gptkbp:treatment |
supportive care
surgical intervention |
| gptkbp:bfsParent |
gptkb:AKT1
|
| gptkbp:bfsLayer |
6
|