Bannayan-Riley-Ruvalcaba syndrome
GPTKB entity
Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:syndrome
gptkb:genetic_disorder |
| 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
|
| 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
|
| https://www.w3.org/2000/01/rdf-schema#label |
Bannayan-Riley-Ruvalcaba syndrome
|