multiple hamartoma syndrome

GPTKB entity

Predicate	Object
gptkbp:instanceOf	gptkb:disease
gptkbp:affects	gptkb:breast gptkb:thyroid gptkb:skin gastrointestinal tract central nervous system
gptkbp:alsoKnownAs	gptkb:Cowden_syndrome
gptkbp:associatedWith	increased risk of breast cancer increased risk of endometrial cancer increased risk of thyroid cancer
gptkbp:category	genetic syndromes cancer predisposition syndromes
gptkbp:characterizedBy	macrocephaly mucocutaneous lesions multiple hamartomas
gptkbp:firstDescribed	1963 Lloyd and Dennis
gptkbp:hasGeneticTest	PTEN gene sequencing
https://www.w3.org/2000/01/rdf-schema#label	multiple hamartoma syndrome
gptkbp:ICD-10_code	Q85.8
gptkbp:inheritance	autosomal dominant
gptkbp:managedBy	genetic counseling regular cancer screening surgical removal of hamartomas
gptkbp:mutationAssociatedWith	gptkb:PTEN_gene
gptkbp:OMIM	158350
gptkbp:prevalence	rare
gptkbp:relatedTo	gptkb:Bannayan–Riley–Ruvalcaba_syndrome gptkb:Lhermitte–Duclos_disease gptkb:Proteus_syndrome
gptkbp:symptom	gptkb:fibrocystic_breast_disease macrocephaly acral keratoses lipomas oral papillomas thyroid nodules trichilemmomas intestinal polyps
gptkbp:bfsParent	gptkb:Cowden_syndrome
gptkbp:bfsLayer	6