Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:alsoKnownAs |
gptkb:DICER1_tumor_predisposition_syndrome
|
| gptkbp:associatedWith |
gptkb:Sertoli-Leydig_cell_tumor
gptkb:cystic_nephroma gptkb:pineoblastoma gptkb:pleuropulmonary_blastoma gptkb:thyroid_gland_neoplasms gptkb:rhabdomyosarcoma |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
2009
|
| https://www.w3.org/2000/01/rdf-schema#label |
DICER1 syndrome
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:locatedOnChromosome |
chromosome 14q32.13
|
| gptkbp:managedBy |
tumor surveillance
multidisciplinary care |
| gptkbp:mutationAssociatedWith |
gptkb:DICER1_gene
|
| gptkbp:OMIM |
606241
|
| gptkbp:prevalence |
rare
|
| gptkbp:proteinAffected |
gptkb:Dicer_protein
|
| gptkbp:riskFactor |
increased risk of multiple tumors
|
| gptkbp:symptom |
variable, often asymptomatic until tumor develops
|
| gptkbp:bfsParent |
gptkb:Dicer_enzyme
|
| gptkbp:bfsLayer |
6
|