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mismatch repair cancer syndrome

Disease Summary
Associated Targets (7)
Tbio

5

Tclin

1

Tchem

1


Uniprot Description An autosomal recessive, rare, childhood cancer predisposition syndrome encompassing a broad tumor spectrum. This includes hematological malignancies, central nervous system tumors, Lynch syndrome-associated malignancies such as colorectal tumors as well as multiple intestinal polyps, embryonic tumors and rhabdomyosarcoma. Multiple cafe-au-lait macules, a feature reminiscent of neurofibromatosis type 1, are often found as first manifestation of the underlying cancer. Areas of skin hypopigmentation have also been reported in MMRCS patients.
Mondo Term and Equivalent IDs
MONDO:0031219:  mismatch repair cancer syndrome
OMIMPS:276300: