MITF-related melanoma and renal cell carcinoma predisposition syndrome

Orpha code: 293822OMIM code: 614456

Definicja

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
Klasyfikacja

Disease

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

No additional description.

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