PTEN hamartoma tumor syndrome spectrum
GPTKB entity
Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
multiple organ systems
|
| gptkbp:associatedWith |
increased cancer risk
macrocephaly hamartomas |
| gptkbp:causedBy |
mutation in PTEN gene
|
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
late 20th century
|
| gptkbp:gene |
gptkb:PTEN
|
| https://www.w3.org/2000/01/rdf-schema#label |
PTEN hamartoma tumor syndrome spectrum
|
| gptkbp:ICD-10_code |
Q85.8
|
| gptkbp:includes |
gptkb:Bannayan-Riley-Ruvalcaba_syndrome
gptkb:Cowden_syndrome gptkb:Proteus-like_syndrome gptkb:Proteus_syndrome |
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:managedBy |
multidisciplinary care
regular cancer screening |
| gptkbp:OMIM |
158350
|
| gptkbp:prevalence |
rare
|
| gptkbp:riskFactor |
gptkb:cancer
gptkb:endometrial_cancer colorectal cancer melanoma renal cell carcinoma other tumors |
| gptkbp:bfsParent |
gptkb:Bannayan-Zonana_syndrome
|
| gptkbp:bfsLayer |
7
|