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melanoma, cutaneous malignant, susceptibility to, 8 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

melanoma, cutaneous malignant, susceptibility to, 8

MONDO:0013759

Also known as:MITF-related melanoma and renal cell carcinoma predisposition syndromemelanoma, cutaneous malignant, susceptibility to, type 8CMM8

Overview

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.

GeneticsAutosomal dominant

Clinical Presentation

Features include: Cutaneous melanoma.

Explore clinical features

Diagnosis

Biomarker and diagnostic research for melanoma, cutaneous malignant, susceptibility to, 8 has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for melanoma, cutaneous malignant, susceptibility to, 8.

24 publications have been identified in PubMed for melanoma, cutaneous malignant, susceptibility to, 8. Research spans Case Report / Case Series (25%), Basic Science / Preclinical (25%), and Review / Meta-Analysis (21%).

Research Type	Count	% of Total
Patient case studies	6	25%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 4:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614456

Orphanet

European rare disease database

Orphanet:293822

Questions for Your Care Team

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melanoma, cutaneous malignant, susceptibility to, 8

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

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Questions for Your Care Team

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