mismatch repair cancer syndrome 1
An autosomal recessive constitutional mismatch repair deficiency syndrome caused by pathogenic variants in the MLH1 mismatch repair gene. It is characterized by a high risk of childhood cancers, including hematological malignancies and brain tumors, as well as colorectal cancers with polyposis.
MONDO:0015356
hereditary neoplastic syndrome
is_a
MONDO:0031219
mismatch repair cancer syndrome
is_a
MONDO:0100545
hereditary neurological disease
is_a
BTP1 syndrome
exact
CNS tumors with familial polyposis of the colon
related
CNS tumours with familial polyposis of the colon
related
MLH1-related constitutional mismatch repair deficiency syndrome
exact
MMRCS
related
MMRCS1
exact
Turcot Syndrome
exact
brain tumor-polyposis syndrome
related
brain tumor-polyposis syndrome 1
exact
glioma-polyposis syndrome
related
malignant tumors of the central nervous system associated with familial polyposis of the colon
related
malignant tumours of the central nervous system associated with familial polyposis of the colon
related
mismatch repair cancer syndrome
related
mismatch repair cancer syndrome 1
exact
SPBC1703.04