Bannayan-Riley-Ruvalcaba syndrome

GPTKB entity

Statements (55)
Predicate Object
gptkbp:instance_of gptkb:Genetics
gptkbp:associated_with gptkb:Oncology
gptkb:PTEN_gene
gptkb:depression
support groups
therapeutic interventions
anxiety disorders
attention deficit hyperactivity disorder
learning disabilities
increased cancer risk
behavioral issues
endometrial cancer
neurodevelopmental disorders
autism spectrum disorder
social difficulties
renal cancer
psychosocial challenges
educational support needs
gptkbp:characterized_by hamartomas
intellectual disability
lipomas
macrocephaly
pigmented lesions
gptkbp:diagnosis variable
genetic testing
clinical evaluation
gptkbp:first_described_by gptkb:1971
gptkbp:genetic_studies exome sequencing
PTEN mutation analysis
https://www.w3.org/2000/01/rdf-schema#label Bannayan-Riley-Ruvalcaba syndrome
gptkbp:inherits_from autosomal dominant
gptkbp:management multidisciplinary approach
gptkbp:named_after gptkb:Carlos_Ruvalcaba
gptkb:Robert_Riley
David Bannayan
gptkbp:prevalence rare
gptkbp:related_to gptkb:Cowden_syndrome
gptkb:Bannayan_syndrome
gptkb:Riley_syndrome
gptkbp:research_focus gptkb:PTEN-related_disorders
clinical trials
patient registries
genetic counseling
long-term outcomes
gptkbp:risk_factor family history
gptkbp:symptoms seizures
growth retardation
facial dysmorphism
gastrointestinal polyps
genitourinary abnormalities
gptkbp:treatment symptomatic management
surgical intervention
gptkbp:bfsParent gptkb:Cowden_syndrome
gptkb:Li-Fraumeni_syndrome
gptkbp:bfsLayer 6