Bannayan-Riley-Ruvalcaba syndrome
GPTKB entity
Statements (48)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:advertising |
ongoing
|
| gptkbp:associatedWith |
gptkb:melanoma
gptkb:PTEN_gene seizures breast cancer colorectal cancer thyroid cancer endometrial cancer neoplasms facial dysmorphism gastrointestinal polyps genitourinary abnormalities renal cancer thyroid abnormalities skeletal abnormalities liposarcoma other tumors |
| gptkbp:characterizedBy |
hamartomas
intellectual disability lipomas macrocephaly pigmented lesions |
| gptkbp:clinicalTrials |
ongoing
|
| gptkbp:demographics |
rare
|
| gptkbp:diseaseResistance |
genetic testing
clinical evaluation |
| gptkbp:firstDescribedBy |
1990s
|
| gptkbp:geneticDiversity |
recommended
|
| gptkbp:healthcare |
established
|
| https://www.w3.org/2000/01/rdf-schema#label |
Bannayan-Riley-Ruvalcaba syndrome
|
| gptkbp:impact |
both genders
symptomatic treatment surgical intervention |
| gptkbp:legalEvent |
variable
|
| gptkbp:nobleFamily |
autosomal dominant
|
| gptkbp:providesGuidelinesFor |
developed
|
| gptkbp:relatedTo |
gptkb:Cowden_syndrome
gptkb:Riley-Day_syndrome Bannayan syndrome |
| gptkbp:research |
available
exome sequencing PTEN mutation analysis |
| gptkbp:researchFocus |
PTEN-related disorders
|
| gptkbp:researchInterest |
genetic research centers
|
| gptkbp:supports |
available
|
| gptkbp:symptoms |
variable
childhood |