hereditary leiomyomatosis and renal cell cancer
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:abbreviation |
HLRCC
|
| gptkbp:affects |
gptkb:skin
kidneys uterus |
| gptkbp:associatedWith |
aggressive kidney cancer
|
| gptkbp:characterizedBy |
renal cell carcinoma
cutaneous leiomyomas uterine leiomyomas |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
2001
|
| https://www.w3.org/2000/01/rdf-schema#label |
hereditary leiomyomatosis and renal cell cancer
|
| gptkbp:ICD-10_code |
Q87.8
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
FH gene
|
| gptkbp:OMIM |
605839
|
| gptkbp:prevalence |
rare
|
| gptkbp:relatedTo |
gptkb:fumarase_deficiency
|
| gptkbp:riskFactor |
type 2 papillary renal cell carcinoma
|
| gptkbp:treatment |
surgical removal of tumors
surveillance for renal tumors |
| gptkbp:bfsParent |
gptkb:Fumarase
|
| gptkbp:bfsLayer |
7
|