A rare childhood cancer predisposition syndrome caused by biallelic inheritance of mutations in MLH1, MSH2, MSH6, or PMS2 genes. It is characterized by the development of childhood cancers, usually hematological malignancies and/or brain tumors, and colorectal cancers with multiple intestinal polyps. The majority of patients show signs of neurofibromatosis type 1. [ NCIT:P378 ]
Synonyms: mismatch repair cancer syndrome 1 constitutional MIS-match repair deficiency syndrome CMMR-D syndrome CMMR-D BTP1 syndrome constitutional mismatch repair deficiency syndrome MMRCS1 brain tumor-polyposis syndrome 1
Term information
- OMIM:276300 (Orphanet:252202/e)
- UMLS:C5399763 (MONDO:equivalentTo)
- MESH:C536928 (MONDO:equivalentTo)
- NORD:1805 (MONDO:NORD)
- SCTID:61665008 (MONDO:equivalentTo)
- NCIT:C130202 (MONDO:equivalentTo)
- GARD:420 (OMIM:276300)
- GARD:17217 (Orphanet:252202)
gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen
https://github.com/monarch-initiative/mondo/issues/6752
https://github.com/monarch-initiative/mondo/issues/7068
http://identifiers.org/snomedct/61665008
http://linkedlifedata.com/resource/umls/id/C5399763
https://omim.org/entry/276300
http://purl.obolibrary.org/obo/NCIT_C130202
http://identifiers.org/mesh/C536928
http://purl.obolibrary.org/obo/MONDO_0018040
http://purl.obolibrary.org/obo/MONDO_0021190
glioma-polyposis syndrome
Turcot syndrome
MMRCS
mismatch repair cancer syndrome
CNS tumours with familial polyposis of the colon
childhood cancer syndrome
brain tumor-polyposis syndrome
malignant tumours of the central nervous system associated with familial polyposis of the colon
malignant tumors of the central nervous system associated with familial polyposis of the colon
MMR deficiency
mismatch repair deficiency
CNS tumors with familial polyposis of the colon