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MITF-related melanoma and renal cell carcinoma predisposition syndrome

Disease Summary
Associated Targets (2)
Tclin

1

Tchem

1


Explore Associated Targets
Mondo Description MITF-related melanoma and renal cell carcinoma predisposition syndrome is an inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer.
Uniprot Description A malignant neoplasm of melanocytes, arising de novo or from a pre-existing benign nevus, which occurs most often in the skin but also may involve other sites.
Mondo Term and Equivalent IDs
MONDO:0013759:  MITF-related melanoma and renal cell carcinoma predisposition syndrome
Orphanet:293822: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found