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Summary Literature (0)
DOID:0112182 - mismatch repair cancer syndrome


Disease Ontology Definition:A syndrome characterized by predisposition for development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers that has_material_basis_in homozygous or compound heterozygous mutation in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2 on chromosomes 3p22.2, 2p21-p16, 2p16.3, and 7p22.1, respectively.

Synonyms: BTP1 syndrome, BTPS1, CMMR-D syndrome, CMMRDS, MMR deficiency, Turcot syndrome, brain tumor-polyposis syndrome 1, childhood cancer syndrome, constitutional mismatch repair deficiency syndrome

Xenbase Genes : apc, msh2, msh6, pms2, mlh1


OMIM:
OMIM:276300 - MISMATCH REPAIR CANCER SYNDROME 1; MMRCS1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), syndrome (is_a)