PTEN Hamartoma Tumor Syndrome
GPTKB entity
Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
multiple organ systems
|
| gptkbp:alsoKnownAs |
gptkb:PHTS
|
| gptkbp:associatedWith |
gptkb:Bannayan-Riley-Ruvalcaba_syndrome
gptkb:Cowden_syndrome gptkb:Proteus-like_syndrome |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
1997
|
| https://www.w3.org/2000/01/rdf-schema#label |
PTEN Hamartoma Tumor Syndrome
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:inheritanceRiskToOffspring |
50%
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_10q23.3
|
| gptkbp:managedBy |
cancer surveillance
symptom management |
| gptkbp:mutationAssociatedWith |
gptkb:PTEN_gene
|
| gptkbp:OMIM |
158350
|
| gptkbp:prevalence |
rare
|
| gptkbp:riskFactor |
gptkb:cancer
gptkb:endometrial_cancer colorectal cancer melanoma renal cell carcinoma |
| gptkbp:symptom |
increased cancer risk
macrocephaly hamartomas |
| gptkbp:bfsParent |
gptkb:PTEN_Hamartoma_Tumor_Syndrome_Foundation
|
| gptkbp:bfsLayer |
7
|