MITF-related melanoma and renal cell carcinoma predisposition syndrome

Orpha code: 293822OMIM code: 614456

Definition

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.

Disease data
Classification

Disease

ORPHA code
293822
OMIM code
614456
ICD10 code
C43.9
ICD11 code
-

No additional description.

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