Lynch syndrome 5

Preferred Label : Lynch syndrome 5;

Symbol : LYNCH5;

CISMeF acronym : HNPCC5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : HNPCC5; Colorectal cancer, hereditary nonpolyposis, type 5;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the mutS homolog 6 gene (MSH6, 600678.0001);

Neoplasia : Increased risk of cancer; Increased risk of endometrial cancer; Increased risk of colorectal cancer;

Laboratory abnormalities : Tumor cells show microsatellite instability;

Prefixed ID : #614350;

Details

Origin ID

614350;

UMLS CUI

C1833477;

Currated CISMeF NLP mapping
- colorectal cancer, hereditary nonpolyposis, type 5 [MeSH Supplementary Concept]
- colorectal cancer, hereditary nonpolyposis, type 5 [MeSH concept]
- hereditary nonpolyposis colorectal cancer type 5 [DO Concept]
DO Cross reference
- hereditary nonpolyposis colorectal cancer type 5 [DO Concept]
Genes related to phenotype
- Muts homolog 6 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Endometrial carcinoma [HPO term]
- Hereditary nonpolyposis colorectal carcinoma [HPO term]
- Incomplete penetrance [HPO term]
ORDO concept(s)
- Lynch syndrome [ORDO Disease]
See also inter- (CISMeF)
- MSH6 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- colorectal cancer, hereditary nonpolyposis, type 5 [MeSH concept]
- colorectal cancer, hereditary nonpolyposis, type 5 [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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