Turcot Syndrome Type 1

Preferred Label : Turcot Syndrome Type 1;

NCIt definition : An autosomal dominant hereditary neoplastic syndrome caused by mutations in the PMS2, MLH1, or MSH2 genes. It is characterized by the presence of glioblastoma and the absence of familiar adenomatous polyposis. Patients often develop hereditary nonpolyposis colorectal carcinoma.;

Details

Origin ID

C40463;

UMLS CUI

C1519702;

Disease may have findings
- Cafe Au Lait Spot [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
disease_has_associated_disease
- Glioblastoma [NCIt concept]
- Malignant Central Nervous System Neoplasm [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_mapped_to_gene
- MLH1 Gene [NCIt concept]
- MSH2 Gene [NCIt concept]
- PMS2 Gene [NCIt concept]
disease_may_have_associated_disease
- Colorectal Adenoma [NCIt concept]
- Colorectal Carcinoma [NCIt concept]
- Lynch Syndrome [NCIt concept]
disease_may_have_molecular_abnormality
- Inactivating MLH1 Gene Mutation [NCIt concept]
- Inactivating MSH2 Gene Mutation [NCIt concept]
- Inactivating PMS2 Gene Mutation [NCIt concept]
pathogenesis_of_disease_involves_gene
- MLH1 Gene [NCIt concept]
- MLH1 wt Allele [NCIt concept]
- MSH2 Gene [NCIt concept]
- MSH2 wt Allele [NCIt concept]
- PMS2 Gene [NCIt concept]
- PMS2 wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients