Details of Disease

General Information of Disease (ID: DISL8RLW)

Disease Name Melanoma, cutaneous malignant, susceptibility to, 8
Synonyms
susceptibility to cutaneous malignant melanoma 8; melanoma and renal cell carcinoma, susceptibility to; CMM8; MITF-related melanoma and renal cell carcinoma predisposition syndrome; melanoma, cutaneous malignant, susceptibility to, type 8; melanoma, cutaneous malignant, susceptibility to, 8
Definition
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 Hierarchy
DISOI5X8: Susceptibility to familial cutaneous melanoma
DIS98MYE: Inherited disease susceptibility
DISL8RLW: Melanoma, cutaneous malignant, susceptibility to, 8
Disease Identifiers
MONDO ID
MONDO_0013759
UMLS CUI
C3152204
OMIM ID
614456
MedGen ID
463554
Orphanet ID
293822

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MITF OT6XJCZH Strong Autosomal dominant [1]
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References

1 A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. Nature. 2011 Oct 19;480(7375):94-8. doi: 10.1038/nature10539.