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
|