Details of Disease

General Information of Disease (ID: DISFJV9Z)

Disease Name Melanoma-pancreatic cancer syndrome
Synonyms familial atypical multiple Mole melanoma-pancreatic carcinoma syndrome; melanoma-pancreatic cancer syndrome
Disease Hierarchy
DIS2YEKP: Familial atypical multiple mole melanoma syndrome
DISFJV9Z: Melanoma-pancreatic cancer syndrome
Disease Identifiers
MONDO ID
MONDO_0011713
MESH ID
C563985
UMLS CUI
C1838547
OMIM ID
606719
MedGen ID
325450

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CDKN2A TTFTWQ8 Definitive Autosomal dominant [1]
CDKN2A TTFTWQ8 Definitive Genetic Variation [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CDKN2A OTN0ZWAE Definitive Autosomal dominant [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
2 Improving performance of multigene panels for genomic analysis of cancer predisposition.Genet Med. 2016 Oct;18(10):974-81. doi: 10.1038/gim.2015.212. Epub 2016 Feb 4.