Details of Disease | DrugMAP

General Information of Disease (ID: DISB7J1A)

Disease Name	Mismatch repair cancer syndrome 1
Synonyms	CNS tumors with familial polyposis of the colon; CNS tumours with familial polyposis of the colon; MMRCS; malignant tumours of the central nervous system associated with familial polyposis of the colon; mismatch repair deficiency; MMR deficiency; childhood cancer syndrome; malignant tumors of the central nervous system associated with familial polyposis of the colon; glioma-polyposis syndrome; mismatch repair cancer syndrome; Turcot syndrome; brain tumor-polyposis syndrome; Turcot Syndrome; mismatch repair cancer syndrome 1; constitutional mismatch repair deficiency syndrome; brain tumor-polyposis syndrome 1; CMMR-D; constitutional MIS-match repair deficiency syndrome; MMRCS1; CMMR-D syndrome; BTP1 syndrome
Definition	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.
Disease Hierarchy	DISD715V: Hereditary neurological disease DISGXLG5: Hereditary neoplastic syndrome DISIXHJ2: Mismatch repair cancer syndrome DISB7J1A: Mismatch repair cancer syndrome 1
Disease Identifiers	MONDO ID MONDO_0010159 MESH ID C536928 UMLS CUI C5399763 OMIM ID 276300 MedGen ID 1748029 Orphanet ID 252202

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MLH1	TTISG27	Definitive	Autosomal recessive	[1]
MSH2	TTCAWRT	Definitive	Autosomal recessive	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MLH1	OTG5XDD8	Definitive	Autosomal recessive	[1]
MSH2	OT10H1AB	Definitive	Autosomal recessive	[1]
MSH6	OT46FP09	Definitive	Autosomal recessive	[1]
PMS2	OTNLWTMI	Definitive	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.