Cowden syndrome

GPTKB entity

Statements (43)
Predicate Object
gptkbp:instanceOf genetic disorder
syndrome
gptkbp:alsoKnownAs gptkb:multiple_hamartoma_syndrome
gptkbp:associatedWith increased risk of breast cancer
macrocephaly
increased risk of endometrial cancer
hamartomas
increased risk of thyroid cancer
mucocutaneous lesions
gptkbp:diagnosedBy genetic testing
clinical criteria
gptkbp:firstDescribed 1963
Lloyd and Dennis
gptkbp:guidanceSystem gptkb:NCCN_Guidelines
gptkbp:hasDatabaseEntry gptkb:GeneReviews
gptkb:Genetics_Home_Reference
gptkb:Orphanet
gptkbp:hasGeneticTest PTEN deletion/duplication analysis
PTEN sequencing
https://www.w3.org/2000/01/rdf-schema#label Cowden syndrome
gptkbp:ICD-10_code Q85.8
gptkbp:inheritance autosomal dominant
gptkbp:managedBy cancer surveillance
risk-reducing surgery
gptkbp:mutationAssociatedWith gptkb:PTEN_gene
gptkbp:OMIM 158350
gptkbp:prevalence rare
gptkbp:relatedTo gptkb:PTEN_hamartoma_tumor_syndrome
gptkbp:riskFactor gptkb:cancer
gptkb:endometrial_cancer
colorectal cancer
melanoma
renal cell carcinoma
gptkbp:supportersGroup gptkb:PTEN_Hamartoma_Tumor_Syndrome_Foundation
gptkbp:symptom gptkb:fibrocystic_breast_disease
acral keratoses
gastrointestinal polyps
oral papillomas
thyroid nodules
trichilemmomas
gptkbp:bfsParent gptkb:HGNC:9873
gptkb:PTEN
gptkbp:bfsLayer 5