Details of Disease

General Information of Disease (ID: DISEBNIA)

Disease Name Familial colorectal cancer type X
Synonyms FCCTX; familial colorectal cancer type X
Definition Hereditary nonpolyposis colorectal cancer characterized by the absence of germline mutations in DNA mismatch-repair genes.
Disease Hierarchy
DISPA49R: Hereditary nonpolyposis colon cancer
DISEBNIA: Familial colorectal cancer type X
Disease Identifiers
MONDO ID
MONDO_0018604
UMLS CUI
C3896578
MedGen ID
856172
Orphanet ID
440437
SNOMED CT ID
1197359006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
BMPR1A OTQOA4ZH Limited Biomarker [1]
GALNT12 OTVIBUST Disputed Biomarker [2]
RPS20 OTI8052R Supportive Autosomal dominant [3]
SEMA4A OT8901H3 Supportive Autosomal dominant [4]
SETD6 OTH5APN1 Definitive Genetic Variation [5]
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References

1 Screening of BMPR1a for pathogenic mutations in familial colorectal cancer type X families from Newfoundland.Fam Cancer. 2018 Apr;17(2):205-208. doi: 10.1007/s10689-017-0016-8.
2 GALNT12 is not a major contributor of familial colorectal cancer type X.Hum Mutat. 2014 Jan;35(1):50-2. doi: 10.1002/humu.22454. Epub 2013 Oct 17.
3 Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency. Gastroenterology. 2014 Sep;147(3):595-598.e5. doi: 10.1053/j.gastro.2014.06.009. Epub 2014 Jun 15.
4 Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X. Nat Commun. 2014 Oct 13;5:5191. doi: 10.1038/ncomms6191.
5 SETD6 dominant negative mutation in familial colorectal cancer type X.Hum Mol Genet. 2017 Nov 15;26(22):4481-4493. doi: 10.1093/hmg/ddx336.