Details of Disease

General Information of Disease (ID: DIS9GED5)

Disease Name Nasopharyngeal carcinoma, susceptibility to, 3
Synonyms
susceptibility to nasopharyngeal carcinoma 3; nasopharyngeal carcinoma caused by mutation in MST1R; MST1R nasopharyngeal carcinoma; nasopharyngeal carcinoma, susceptibility to, 3; NPCA3; nasopharyngeal carcinoma, susceptibility to, 3; nasopharyngeal carcinoma, susceptibility to, type 3; NPCA3
Definition Any nasopharyngeal carcinoma in which the cause of the disease is a mutation in the MST1R gene.
Disease Hierarchy
DISGXLG5: Hereditary neoplastic syndrome
DIS98MYE: Inherited disease susceptibility
DIS9GED5: Nasopharyngeal carcinoma, susceptibility to, 3
Disease Identifiers
MONDO ID
MONDO_0014902
UMLS CUI
C4310729
OMIM ID
617075
MedGen ID
934696

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
MST1R TTBQ3OC Limited Autosomal dominant [1]
MST1R TTBQ3OC Strong 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
MST1R OTJIPL5T Limited Autosomal dominant [1]
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References

1 A genome sequencing program for novel undiagnosed diseases. Genet Med. 2015 Dec;17(12):995-1001. doi: 10.1038/gim.2015.21. Epub 2015 Mar 19.
2 Whole-exome sequencing identifies MST1R as a genetic susceptibility gene in nasopharyngeal carcinoma.Proc Natl Acad Sci U S A. 2016 Mar 22;113(12):3317-22. doi: 10.1073/pnas.1523436113. Epub 2016 Mar 7.