Bannayan-Riley-Ruvalcaba syndrome
GPTKB entity
Statements (28)
Predicate | Object |
---|---|
gptkbp:instanceOf |
genetic disorder
syndrome |
gptkbp:alternativeName |
gptkb:BRRS
gptkb:Bannayan-Zonana_syndrome gptkb:macrocephaly-hemangioma_syndrome |
gptkbp:associatedWith |
gptkb:PTEN
|
gptkbp:eponymOf |
gptkb:Earl_Riley
gptkb:George_Bannayan gptkb:Jorge_Ruvalcaba |
gptkbp:hasOrphanetID |
gptkb:ORPHA:110
|
https://www.w3.org/2000/01/rdf-schema#label |
Bannayan-Riley-Ruvalcaba syndrome
|
gptkbp:ICD-10_code |
Q87.3
|
gptkbp:inheritance |
autosomal dominant
|
gptkbp:OMIM |
153480
|
gptkbp:onset |
congenital
|
gptkbp:partOf |
gptkb:PTEN_hamartoma_tumor_syndrome
|
gptkbp:prevalence |
rare
|
gptkbp:riskFactor |
increased risk of cancer
|
gptkbp:symptom |
developmental delay
macrocephaly hemangiomas high birth weight intestinal polyposis lipomas pigmented macules of the glans penis |
gptkbp:treatment |
symptomatic management
|
gptkbp:bfsParent |
gptkb:HGNC:9873
|
gptkbp:bfsLayer |
5
|