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	constitutional mismatch repair deficiency syndrome

Disease ID	1726
Disease	constitutional mismatch repair deficiency syndrome
Definition	An autosomal dominant hereditary neoplastic syndrome caused by mutations in the PMS2, MLH1, MSH2, or APC genes. There are two types described, type 1, characterized by the presence of glioblastoma and often associated with hereditary nonpolyposis colorectal carcinoma, and type 2, characterized by the presence of medulloblastoma and familiar adenomatous polyposis.
Synonym	brain tumor-polyposis syndrome 1 btp1 syndrome btps1 childhood cancer syndrome cmmrds cns tumors with familial polyposis of the colon mismatch repair cancer syndrome mismatch repair deficiency mmr deficiency mmrcs syndrome turcots turcot syndrome turcot syndrome (disorder) turcot's syndrome
Orphanet	ORPHANET:252202
OMIM	OMIM:276300
UMLS	C0265325
SNOMED-CT	SNOMEDCT_US_2016_09_01:61665008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:25) C0009402 \| colorectal cancer \| 6 C0007113 \| rectal cancer \| 6 C1527249 \| colorectal cancers \| 3 C0476089 \| endometrial ca \| 3 C0476089 \| endometrial cancer \| 3 C0476089 \| endometrial cancers \| 3 C0007102 \| colon cancer \| 2 C1140680 \| ovarian ca \| 2 C1140680 \| ovarian cancer \| 2 C1333990 \| hereditary nonpolyposis colorectal cancer \| 2 C0024623 \| gastric cancer \| 2 C0009402 \| colorectal carcinoma \| 2 C0007113 \| rectal carcinoma \| 2 C0032580 \| adenomatous polyposis \| 1 C0206716 \| ganglioglioma \| 1 C0024305 \| non-hodgkin's lymphoma \| 1 C0678222 \| breast carcinoma \| 1 C0023418 \| leukemia \| 1 C0338106 \| colonic adenocarcinoma \| 1 C0019829 \| hodgkin's lymphoma \| 1 C0431112 \| anaplastic ganglioglioma \| 1 C0376358 \| prostate cancer \| 1 C0006142 \| breast cancer \| 1 C0262401 \| ampullary carcinoma \| 1 C0032580 \| familial adenomatous polyposis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:5) 2956 \| MSH6 \| CLINVAR;CTD_human;ORPHANET 4436 \| MSH2 \| CLINVAR;CTD_human;ORPHANET 324 \| APC \| CTD_human 4292 \| MLH1 \| CLINVAR;CTD_human;ORPHANET;UNIPROT 5395 \| PMS2 \| CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	Symbol \| Locus(Total Locus:4) PMS2 \| 7p22.1 MLH1 \| 3p22.2 MSH2 \| 2p21-p16.3 MSH6 \| 2p16.3

Disease ID	1726
Disease	constitutional mismatch repair deficiency syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:9) HP:0002664 \| Neoplasia \| 4 HP:0003003 \| Colon cancer \| 2 HP:0012125 \| Prostate cancer \| 2 HP:0003002 \| Breast carcinoma \| 2 HP:0012126 \| Gastric cancer \| 2 HP:0012189 \| Hodgkin disease \| 1 HP:0100615 \| Neoplasm of the ovary \| 1 HP:0001909 \| Leukemia \| 1 HP:0030731 \| Carcinoma \| 1

Disease ID	1726
Disease	constitutional mismatch repair deficiency syndrome
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:25)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs113488022	25280751	4292	MLH1	umls:C0265325	BeFree	This study compared two biomarkers in tumours with mismatch repair deficiency; quantification of methylation of the MLH1 promoter region using a novel assay and BRAF c.1799T>A, p.(Val600Glu) mutation status in the identification of constitutional mutations.	0.492486326	2015	BRAF	7	140753336	A	T,G,C
rs113488022	17914558	673	BRAF	umls:C0265325	BeFree	Both the HP and TSA exhibited the V600E BRAF mutation without MSI or MMR deficiency.	0.003528744	2007	BRAF	7	140753336	A	T,G,C
rs113488022	18061181	673	BRAF	umls:C0265325	BeFree	All patients underwent tumor microsatellite instability analysis and immunostaining for MLH1 and MSH2, and those with MMR deficiency (n = 91) underwent tumor BRAF V600E mutation analysis and MLH1/MSH2 germline testing.	0.003528744	2008	BRAF	7	140753336	A	T,G,C
rs113488022	18061181	4436	MSH2	umls:C0265325	BeFree	All patients underwent tumor microsatellite instability analysis and immunostaining for MLH1 and MSH2, and those with MMR deficiency (n = 91) underwent tumor BRAF V600E mutation analysis and MLH1/MSH2 germline testing.	0.365157396	2008	BRAF	7	140753336	A	T,G,C
rs113488022	18061181	4292	MLH1	umls:C0265325	BeFree	All patients underwent tumor microsatellite instability analysis and immunostaining for MLH1 and MSH2, and those with MMR deficiency (n = 91) underwent tumor BRAF V600E mutation analysis and MLH1/MSH2 germline testing.	0.492486326	2008	BRAF	7	140753336	A	T,G,C
rs121434629	NA	5395	PMS2	umls:C0265325	CLINVAR	NA	0.484071628	NA	PMS2	7	6005918	C	T,A
rs121434630	NA	5395	PMS2	umls:C0265325	CLINVAR	NA	0.484071628	NA	PMS2	7	6004003	A	T
rs121912965	NA	4292	MLH1	umls:C0265325	CLINVAR	NA	0.492486326	NA	NA	NA	NA	NA	NA
rs17217772	18470917	4436	MSH2	umls:C0265325	BeFree	Our data demonstrate that MSH2 N127S and G322D per se are not sufficient to trigger MMR deficiency.	0.365157396	2008	MSH2	2	47410107	A	G,T
rs267607970	NA	4436	MSH2	umls:C0265325	CLINVAR	NA	0.365157396	NA	MSH2	2	47470964	G	A
rs267607990	NA	4436	MSH2	umls:C0265325	CLINVAR	NA	0.365157396	NA	MSH2	2	47476362	T	A
rs397514684	NA	4292	MLH1	umls:C0265325	CLINVAR	NA	0.492486326	NA	MLH1	3	37000965	T	C,G
rs4987188	18470917	4436	MSH2	umls:C0265325	BeFree	Our data demonstrate that MSH2 N127S and G322D per se are not sufficient to trigger MMR deficiency.	0.365157396	2008	MSH2	2	47416318	G	A,T
rs587776705	NA	2956	MSH6	umls:C0265325	CLINVAR	NA	0.363800186	NA	MSH6	2	47803633	GTG	-
rs587776706	NA	2956	MSH6	umls:C0265325	CLINVAR	NA	0.363800186	NA	MSH6	2	47805694	-	T
rs587776715	NA	5395	PMS2	umls:C0265325	CLINVAR	NA	0.484071628	NA	PMS2	7	5987544	C	-
rs63750106	NA	5395	PMS2	umls:C0265325	CLINVAR	NA	0.484071628	NA	PMS2	7	5987458	-	T
rs63750206	NA	4292	MLH1	umls:C0265325	CLINVAR	NA	0.492486326	NA	MLH1	3	36996701	G	A,T
rs63750871	NA	5395	PMS2	umls:C0265325	CLINVAR	NA	0.484071628	NA	PMS2	7	6002590	G	A
rs63750899	NA	4292	MLH1	umls:C0265325	CLINVAR	NA	0.492486326	NA	MLH1	3	37048562	C	T
rs63751247	NA	4292	MLH1	umls:C0265325	CLINVAR	NA	0.492486326	NA	MLH1	3	37047639	AAG	-
rs63751422	NA	5395	PMS2	umls:C0265325	CLINVAR	NA	0.484071628	NA	PMS2	7	5986838	G	A
rs63751449	NA	4436	MSH2	umls:C0265325	CLINVAR	NA	0.365157396	NA	MSH2	2	47410181	A	-
rs63751466	NA	5395	PMS2	umls:C0265325	CLINVAR	NA	0.484071628	NA	PMS2	7	5977629	G	A
rs63751615	NA	4292	MLH1	umls:C0265325	CLINVAR	NA	0.492486326	NA	MLH1	3	37012098	C	T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	1726
Disease	constitutional mismatch repair deficiency syndrome
Case	(Waiting for update.)