Lynch 1 Syndrome

Preferred Label : Lynch 1 Syndrome;

NCIt synonyms : Hereditary Nonpolyposis Colorectal Cancer Type 1; Familial Non-Polyposis Colon Cancer Type 1; HNPCC1; Hereditary Non-Polyposis Colon Cancer Type 1; Lynch Syndrome 1; Lynch Syndrome I;

NCIt definition : A rare genetic neoplastic syndrome with an autosomal dominant pattern of inheritance but incomplete penetrance. It is associated with a greater than 70 % risk of developing colorectal carcinoma. It is caused by a mutation in one of the mismatch repair genes: MSH2, MLH1, MSH6 or PMS2. It usually manifests at age 50 or younger with multiple synchronous or metachronous colorectal carcinomas. Clinical course is rapidly progressive. Prognosis is variable with a high risk for the development of additional colorectal carcinomas. However, survival is significantly better than non-HNPCC carcinomas of equivalent stage.;

Details

Origin ID

C6725;

UMLS CUI

C2936783;

Currated CISMeF NLP mapping
- Colorectal cancer [OMIM Phenotype]
- Lynch syndrome 1 [DO Concept]
- Lynch syndrome 1 [OMIM Phenotype]
- colorectal cancer [Radlex concept]
- hereditary nonpolyposis colorectal cancer type 1 [Disease (Nov.)]
Disease may have findings
- Lower Gastrointestinal Hemorrhage [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Lynch syndrome 1 [OMIM Phenotype]
- hereditary nonpolyposis colorectal cancer type 1 [Disease (Nov.)]
Validated automatic mappings to NTBT
- Lynch syndrome [DO Concept]
- hereditary nonpolyposis colorectal cancer [Disease (Nov.)]
disease_has_associated_disease
- Colorectal Carcinoma [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_has_molecular_abnormality
- Inactivating MSH2 Gene Mutation [NCIt concept]
disease_mapped_to_gene
- MSH2 Gene [NCIt concept]
- MSH6 Gene [NCIt concept]
- PMS1 Gene [NCIt concept]
- PMS2 Gene [NCIt concept]
disease_may_have_associated_disease
- Endometrial Carcinoma [NCIt concept]
- Gastric Intestinal-Type Adenocarcinoma [NCIt concept]
- Ovarian Carcinoma [NCIt concept]
- Renal Pelvis Carcinoma [NCIt concept]
- Small Intestinal Carcinoma [NCIt concept]
- Ureter Carcinoma [NCIt concept]
disease_may_have_molecular_abnormality
- High-Frequency Microsatellite Instability [NCIt concept]
- Inactivating MSH6 Gene Mutation [NCIt concept]
- Inactivating PMS2 Gene Mutation [NCIt concept]
- PMS1 Gene Inactivation [NCIt concept]
pathogenesis_of_disease_involves_gene
- MSH2 Gene [NCIt concept]
- MSH2 wt Allele [NCIt concept]
related_to_genetic_biomarker
- MLH1 Gene [NCIt concept]
- MSH2 Gene [NCIt concept]
- MSH6 Gene [NCIt concept]
- PMS2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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