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MRTES
MCID: MRT001
MIFTS: 59

Muir-Torre Syndrome (MRTES)

Categories: Cancer diseases, Gastrointestinal diseases, Genetic diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Muir-Torre Syndrome

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MalaCards integrated aliases for Muir-Torre Syndrome:

Name: Muir-Torre Syndrome 57 12 20 58 72 13 54 44 15 39
Muir-Torré Syndrome 29 6
Keratoacanthoma 20 70
Mrtes 57 72
Cutaneous Sebaceous Neoplasms and Keratoacanthomas, Multiple, with Gastrointestinal and Other Carcinomas 57
Cutaneous Sebaceous Neoplasms and Keratoacanthomas Multiple with Gastrointestinal and Other Carcinomas 20
Multiple Keratoacanthoma, Muir-Torre Type 58
Torre-Muir Syndrome 70
Mts 72

Characteristics:

Orphanet epidemiological data:

58
muir-torre syndrome
Inheritance: Autosomal dominant; Age of onset: Adult;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
muir-torre syndrome:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Gastrointestinal diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare gastroenterological diseases
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0050465
OMIM® 57 158320
MeSH 44 D055653
NCIt 50 C84905
SNOMED-CT 67 403824007
MESH via Orphanet 45 D055653
ICD10 via Orphanet 33 L72.8
UMLS via Orphanet 71 C1321489
Orphanet 58 ORPHA587
MedGen 41 C1321489
UMLS 70 C0022572 C1321489
Sources

Summaries for Muir-Torre Syndrome

About this section
GARD : 20 Muir-Torre syndrome (MTS) is a form of Lynch syndrome and is characterized by sebaceous (oil gland) skin tumors in association with internal cancers. The most common internal site involved is the gastrointestinal tract (with almost half of affected people having colorectal cancer ), followed by the genitourinary tract. Skin lesions may develop before or after the diagnosis of the internal cancer. MTS is caused by changes ( mutations ) in the MLH1 or MSH2 genes and is inherited in an autosomal dominant manner. A mutation in either of these genes gives a person an increased lifetime risk of developing the skin changes and types of cancer associated with the condition.

MalaCards based summary : Muir-Torre Syndrome, also known as muir-torré syndrome, is related to mismatch repair cancer syndrome 1 and lynch syndrome i, and has symptoms including pruritus and exanthema. An important gene associated with Muir-Torre Syndrome is MLH1 (MutL Homolog 1), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Endometrial cancer. The drugs Lidocaine and Anti-Arrhythmia Agents have been mentioned in the context of this disorder. Affiliated tissues include colon, skin and breast, and related phenotypes are adenoma sebaceum and colon cancer

Disease Ontology : 12 A Lynch syndrome that is characterized by a propensity to develop cancers of the gastrointestinal tract, genitourinary tract, and skin that has material basis in mutations in DNA mismatch repair genes.

UniProtKB/Swiss-Prot : 72 Muir-Torre syndrome: Rare autosomal dominant disorder characterized by sebaceous neoplasms and visceral malignancy.

Wikipedia : 73 Muir-Torre syndrome is a rare hereditary, autosomal dominant cancer syndrome that is thought to be a... more...

More information from OMIM: 158320
Sources

Related Diseases for Muir-Torre Syndrome

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Diseases related to Muir-Torre Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 470)
# Related Disease Score Top Affiliating Genes
1 mismatch repair cancer syndrome 1 32.1 PMS2 PMS1 MSH6 MSH2 MLH1
2 lynch syndrome i 31.8 PMS2 PMS1 MSH6 MSH2 MLH1 EPCAM
3 keratoacanthoma 31.5 TP53 MSH2 MLH1
4 sebaceous adenocarcinoma 31.3 TP53 PTGER4 PMS2 PMS1 PLIN2 MSH6
5 sebaceous adenoma 31.3 PMS2 PLIN2 MUTYH MSH6 MSH2 MLH1
6 colorectal cancer 2 31.0 MSH2 MLH1
7 myh-associated polyposis 30.9 MUTYH MSH2
8 hereditary nonpolyposis colon cancer 30.9 PMS2 PMS1 MUTYH MSH6 MSH2 MLH1
9 attenuated familial adenomatous polyposis 30.9 MUTYH MSH6 MSH2
10 mismatch repair cancer syndrome 30.9 PMS2 MSH6 MSH2 MLH1
11 ascending colon cancer 30.7 MSH2 MLH1
12 rectum cancer 30.5 MUTYH MSH6 MSH2 MLH1
13 colon adenocarcinoma 30.4 TP53 PMS2 MSH6 MLH1 EPCAM
14 adenoma 30.4 TP53 MUTYH MSH6 MSH2 MLH1 KRT7
15 familial colorectal cancer 30.4 TP53 MUTYH MSH2 MLH1
16 sebaceous gland neoplasm 30.4 PMS2 PMS1 PLIN2 MUTYH MSH6 MSH2
17 skin benign neoplasm 30.4 MSH6 MSH2 MLH1 KRT7
18 squamous cell papilloma 30.3 TP53 CDKN2A
19 papillary transitional carcinoma 30.3 TP53 KRT7
20 oral cancer 30.2 TP53 FHIT CDKN2A
21 meibomian cyst 30.2 PLIN2 KRT7
22 kidney cancer 30.1 TP53 PLIN2 IFNA2 FHIT CDKN2A
23 basal cell carcinoma 30.0 TP53 MSH2 MLH1 KRT7 CDKN2A
24 pituitary carcinoma 30.0 TP53 PMS2 MSH6
25 xeroderma pigmentosum, variant type 30.0 TP53 MUTYH MSH6 MSH3 MSH2 MLH1
26 villous adenoma 30.0 TP53 MLH1 KRT7
27 conjunctival squamous cell carcinoma 30.0 TP53 IFNA2
28 adenocarcinoma 29.9 TP53 MSH6 MSH2 MLH1 KRT7 EPCAM
29 jejunal adenocarcinoma 29.8 PMS2 MUTYH MSH6 MLH1 KRT7
30 penile benign neoplasm 29.8 TP53 CDKN2A
31 familial adenomatous polyposis 29.8 TP53 PMS1 MUTYH MSH6 MSH3 MSH2
32 rectum adenocarcinoma 29.8 TP53 PMS2 MSH6 MSH2 MLH1 KRT7
33 basaloid squamous cell carcinoma 29.7 TP53 KRT7 CDKN2A
34 cystic teratoma 29.7 TP53 KRT7 CDKN2A
35 keratosis, seborrheic 29.7 TP53 KRT7 CDKN2A
36 endocervical adenocarcinoma 29.7 TP53 KRT7 CDKN2A
37 small cell carcinoma 29.7 TP53 KRT7 CDKN2A
38 transitional cell carcinoma 29.7 TP53 MSH2 MLH1 KRT7 IFNA2 FHIT
39 intrahepatic cholangiocarcinoma 29.7 TP53 KRT7 EPCAM
40 mucinous adenocarcinoma 29.6 TP53 MLH1 KRT7 CDKN2A
41 renal cell carcinoma, papillary, 1 29.6 TP53 MSH2 KRT7 CDKN2A
42 squamous cell carcinoma, head and neck 29.6 TP53 MLH1 FHIT EPCAM CDKN2A
43 colorectal adenocarcinoma 29.6 TP53 PMS2 MSH6 MSH2 MLH1 KRT7
44 barrett esophagus 29.6 TP53 KRT7 FHIT CDKN2A
45 melanoma, cutaneous malignant 1 29.6 TP53 MSH6 MSH2 MLH1 IFNA2 CDKN2A
46 merkel cell carcinoma 29.5 TP53 KRT7 CDKN2A
47 cervical squamous cell carcinoma 29.4 TP53 MLH1 CDKN2A
48 squamous cell carcinoma 29.4 TP53 KRT7 FHIT EPCAM CDKN2A
49 lung cancer susceptibility 3 29.4 TP53 MLH1 KRT7 FHIT CDKN2A
50 malignant syringoma 29.3 PTGER4 KRT7

Graphical network of the top 20 diseases related to Muir-Torre Syndrome:



Diseases related to Muir-Torre Syndrome
Sources

Symptoms & Phenotypes for Muir-Torre Syndrome

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Human phenotypes related to Muir-Torre Syndrome:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 adenoma sebaceum 58 31 hallmark (90%) Very frequent (99-80%) HP:0009720
2 colon cancer 58 31 frequent (33%) Frequent (79-30%) HP:0003003
3 neoplasm of the stomach 58 31 frequent (33%) Frequent (79-30%) HP:0006753
4 breast carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0003002
5 endometrial carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0012114
6 neoplasm of the liver 58 31 occasional (7.5%) Occasional (29-5%) HP:0002896
7 hematological neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0004377
8 malignant genitourinary tract tumor 58 31 occasional (7.5%) Occasional (29-5%) HP:0006758
9 renal neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0009726
10 laryngeal carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0012118
11 salivary gland neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0100684
12 neoplasm of the skin 58 Very frequent (99-80%)
13 colonic diverticula 31 HP:0002253
14 basal cell carcinoma 31 HP:0002671
15 benign gastrointestinal tract tumors 31 HP:0006719
16 duodenal adenocarcinoma 31 HP:0006771
17 carcinoma 31 HP:0030731
18 benign genitourinary tract neoplasm 31 HP:0006778
19 sebaceous gland carcinoma 31 HP:0030410

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neoplasia:
colon cancer
basal cell carcinoma
laryngeal carcinoma
benign gastrointestinal tract tumors
breast cancer
more
Skin Nails Hair Skin:
sebaceous gland tumors
keratoacanthomas

Abdomen Gastrointestinal:
colonic diverticula (early onset)

Clinical features from OMIM®:

158320 (Updated 05-Apr-2021)

UMLS symptoms related to Muir-Torre Syndrome:


pruritus; exanthema

GenomeRNAi Phenotypes related to Muir-Torre Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.4 MLH1
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.4 MLH1 TP53
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.4 MLH1 MLH3 MSH2 MSH3 MSH6 MUTYH

MGI Mouse Phenotypes related to Muir-Torre Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.06 CDKN2A EPCAM KRT7 MLH1 MSH2 MSH3
2 homeostasis/metabolism MP:0005376 9.97 CDKN2A EPCAM FHIT KRT7 MLH1 MSH2
3 digestive/alimentary MP:0005381 9.86 CDKN2A EPCAM FHIT MLH1 MSH2 MSH3
4 integument MP:0010771 9.61 CDKN2A FHIT MLH1 MSH2 MSH3 MSH6
5 neoplasm MP:0002006 9.36 CDKN2A FHIT MLH1 MSH2 MSH3 MSH6
Sources

Drugs & Therapeutics for Muir-Torre Syndrome

About this section

Drugs for Muir-Torre Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
2 Anti-Arrhythmia Agents Phase 4
3 Anesthetics Phase 4
4 Sodium Channel Blockers Phase 4
5 Anesthetics, Local Phase 4
6 Diuretics, Potassium Sparing Phase 4
7
Talimogene laherparepvec Approved, Experimental, Investigational Phase 2 1187560-31-1
8
nivolumab Approved Phase 2 946414-94-4
9 Antineoplastic Agents, Immunological Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Use of Local Anesthetic in Intralesional Corticosteroid Injections; A Randomized, Double Blind Controlled Trial Completed NCT03630198 Phase 4 Corticosteroid with lidocaine;Corticosteroid with normal saline
2 A Single Arm Phase 2 Study of Talimogene Laherparepvec in Patients With Cutaneous Squamous Cell Cancer Recruiting NCT03714828 Phase 2 Injection of TVEC into target lesions - week 1-2;Injection of TVEC into target lesions 3wks after 1st injection;Injection of TVEC into target lesions 2wks after 2nd injection;Injection of TVEC into target lesions 2wks after 3rd injection
3 A Phase II Study of Talimogene Laherparepvec Followed by Talimogene Laherparepvec + Nivolumab in Refractory T Cell and NK Cell Lymphomas, Cutaneous Squamous Cell Carcinoma, Merkel Cell Carcinoma, and Other Rare Skin Tumors Recruiting NCT02978625 Phase 2

Search NIH Clinical Center for Muir-Torre Syndrome

Cochrane evidence based reviews: muir-torre syndrome

Sources

Genetic Tests for Muir-Torre Syndrome

About this section

Genetic tests related to Muir-Torre Syndrome:

# Genetic test Affiliating Genes
1 Muir-Torré Syndrome 29 MLH1 MSH2
Sources

Anatomical Context for Muir-Torre Syndrome

About this section

MalaCards organs/tissues related to Muir-Torre Syndrome:

40
Colon, Skin, Breast, Liver, Salivary Gland, Lung, Cervix
Sources

Publications for Muir-Torre Syndrome

About this section

Articles related to Muir-Torre Syndrome:

(show top 50) (show all 454)
# Title Authors PMID Year
1
Spectrum of genetic alterations in Muir-Torre syndrome is the same as in HNPCC. 6 57 61
14994245 2004
2
The genetic basis of Muir-Torre syndrome includes the hMLH1 locus. 6 57 61
8751876 1996
3
Muir-Torre syndrome in several members of a family with a variant of the Cancer Family Syndrome. 61 57 6
4063166 1985
4
"Second hit" in sebaceous tumors from Muir-Torre patients with germline mutations in MSH2: allele loss is not the preferred mode of inactivation. 61 57 54
11231323 2001
5
Structure of the human MSH2 locus and analysis of two Muir-Torre kindreds for msh2 mutations. 61 6 54
7713503 1994
6
A clinical scoring system to identify patients with sebaceous neoplasms at risk for the Muir-Torre variant of Lynch syndrome. 61 57
24603434 2014
7
Germline novel MSH2 deletions and a founder MSH2 deletion associated with anticipation effects in HNPCC. 6 61
17250661 2007
8
Identification of Muir-Torre syndrome among patients with sebaceous tumors and keratoacanthomas: role of clinical features, microsatellite instability, and immunohistochemistry. 61 57
15662714 2005
9
A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome. 57 61
15235030 2004
10
Loss of fragile histidine triad (FHIT) expression and microsatellite instability in periocular sebaceous gland carcinoma in patients with Muir-Torre syndrome. 61 57
12095833 2002
11
Muir-Torre syndrome: case report of a patient with concurrent jejunal and ureteral cancer and a review of the literature. 57 61
10534628 1999
12
Muir-Torre phenotype has a frequency of DNA mismatch-repair-gene mutations similar to that in hereditary nonpolyposis colorectal cancer families defined by the Amsterdam criteria. 61 57
9634524 1998
13
Muir-Torre syndrome: clinical features and molecular genetic analysis. 61 6
9217825 1997
14
Is the mismatch repair deficient type of Muir-Torre syndrome confined to mutations in the hMSH2 gene? 57 61
8931714 1996
15
The Muir-Torre syndrome: a 25-year retrospect. 61 57
7601953 1995
16
Clinicopathological relevance of the association between gastrointestinal and sebaceous neoplasms: the Muir-Torre syndrome. 6 61
7705822 1995
17
Muir-Torre syndrome: a variant of the cancer family syndrome. 61 57
7815421 1994
18
Genetic linkage in Muir-Torre syndrome to the same chromosomal region as cancer family syndrome. 57 61
8155392 1994
19
Muir-Torre syndrome associated with a family history of hyperlipidemia. 61 57
8436639 1993
20
Muir-Torre syndrome in patients with hematologic malignancies. 57 61
1566750 1992
21
Association of sebaceous gland tumors and internal malignancy: the Muir-Torre syndrome. 61 57
2029018 1991
22
Muir-Torre syndrome associated with alpha 1-antitrypsin deficiency and cutaneous vasculitis. Report of a case with exacerbation of a cutaneous neoplasm during immunosuppressive therapy. 61 57
2050856 1991
23
Muir-Torre syndrome: report of a case and reevaluation of the dermatopathologic features. 61 57
7074588 1982
24
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. 6
24362816 2014
25
Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis. 6
23403630 2013
26
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions. 6
22949387 2013
27
Functional characterization of MLH1 missense variants identified in Lynch syndrome patients. 6
22753075 2012
28
Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies. 6
21404117 2011
29
Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants. 6
21120944 2011
30
Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair. 6
20533529 2010
31
Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes. 6
17594722 2007
32
Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays. 6
17510385 2007
33
Molecular characterization of the spectrum of genomic deletions in the mismatch repair genes MSH2, MLH1, MSH6, and PMS2 responsible for hereditary nonpolyposis colorectal cancer (HNPCC). 6
15942939 2005
34
Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. 6
16083711 2005
35
Sixteen rare sequence variants of the hMLH1 and hMSH2 genes found in a cohort of 254 suspected HNPCC (hereditary non-polyposis colorectal cancer) patients: mutations or polymorphisms? 6
11726306 2001
36
Muir-Torre-like syndrome in Fhit-deficient mice. 57
10758156 2000
37
Hereditary nonpolyposis colon cancer: analysis of linkage to 2p15-16 places the COCA1 locus telomeric to D2S123 and reveals genetic heterogeneity in seven Canadian families. 6
8198129 1994
38
The Muir-Torre (Torre's) syndrome: the significance of a solitary sebaceous tumor. 57
2229491 1990
39
Torre's syndrome: exacerbation of cutaneous manifestations with immunosuppression. 57
3771859 1986
40
Sebaceous gland tumors and systemic disease: a clinicopathologic analysis. 57
6738344 1984
41
The cancer family syndrome. Rare cutaneous phenotypic linkage of Torre's syndrome. 57
7224741 1981
42
The Torre syndrome with gastrointestinal polyposis. 57
7369749 1980
43
[Multiple kerato-acanthomas and visceral carcinomas: Torre's syndrome]. 57
610516 1977
44
Multiple sebaceous adenomas and internal malignant disease: a case report with chromosomal analysis. 57
964982 1976
45
[Sebaceous hyperplasias, kerato-acanthomas, epitheliomas of the face and cancer of the colon. A new entity?]. 57
992186 1976
46
Multiple sebaceous gland tumours associated with polyposis of the colon and bony abnormalities. 57
4545832 1974
47
Multiple sebaceous gland tumors and internal carcinoma: Torre's syndrome. 57
4815585 1974
48
Multiple sebaceous neoplasms of the skin: an association with multiple visceral carcinomas, especially of the colon. 57
4758274 1973
49
Multiple sebaceous tumors. 57
5684233 1968
50
Multiple primary carcinomata of the colon, duodenum, and larynx associated with kerato-acanthomata of the face. 57
6020987 1967
Sources

Variations for Muir-Torre Syndrome

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ClinVar genetic disease variations for Muir-Torre Syndrome:

6 (show top 50) (show all 69)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MSH2 NM_000251.2(MSH2):c.1906G>C (p.Ala636Pro) SNV Pathogenic 1764 rs63750875 GRCh37: 2:47702310-47702310
GRCh38: 2:47475171-47475171
2 MSH2 NM_000251.2(MSH2):c.269_290dup (p.Tyr98fs) Duplication Pathogenic 1761 rs1553350126 GRCh37: 2:47635595-47635596
GRCh38: 2:47408456-47408457
3 MSH2 MSH2, 32-KB DEL, EX1-6 Deletion Pathogenic 1774 GRCh37:
GRCh38:
4 MLH1 MLH1:c.(?_-198)_207+?del Deletion Pathogenic 89580 GRCh37: 3:37034841-37038200
GRCh38: 3:36993350-36996709
5 overlap with 2 genes GRCh37/hg19 3p22.2(chr3:37089011-37116538) copy number loss Pathogenic 625694 GRCh37: 3:37089011-37116538
GRCh38:
6 MLH1 NM_000249.3(MLH1):c.306+5G>A SNV Pathogenic 90148 rs267607735 GRCh37: 3:37042549-37042549
GRCh38: 3:37001058-37001058
7 MLH1 NM_000249.3(MLH1):c.885-1G>A SNV Pathogenic 580133 rs1553647894 GRCh37: 3:37061800-37061800
GRCh38: 3:37020309-37020309
8 MSH2 NM_000251.2(MSH2):c.868G>T (p.Glu290Ter) SNV Pathogenic 91235 rs587779190 GRCh37: 2:47641483-47641483
GRCh38: 2:47414344-47414344
9 MSH2 NM_000251.2(MSH2):c.1801C>T (p.Gln601Ter) SNV Pathogenic 1758 rs63750047 GRCh37: 2:47702205-47702205
GRCh38: 2:47475066-47475066
10 MSH2 NM_000251.2(MSH2):c.1861C>T (p.Arg621Ter) SNV Pathogenic 90804 rs63750508 GRCh37: 2:47702265-47702265
GRCh38: 2:47475126-47475126
11 MLH1 NM_000249.3(MLH1):c.588+5G>A SNV Pathogenic 90285 rs267607768 GRCh37: 3:37053358-37053358
GRCh38: 3:37011867-37011867
12 MLH1 NM_000249.4(MLH1):c.1381A>T (p.Lys461Ter) SNV Pathogenic 36540 rs63750540 GRCh37: 3:37067470-37067470
GRCh38: 3:37025979-37025979
13 MLH1 NM_000249.4(MLH1):c.1459C>T SNV Pathogenic 89744 rs63749795 GRCh37: 3:37070324-37070324
GRCh38: 3:37028833-37028833
14 MLH1 NM_000249.3(MLH1):c.2041G>A (p.Ala681Thr) SNV Pathogenic 17099 rs63750217 GRCh37: 3:37090446-37090446
GRCh38: 3:37048955-37048955
15 MSH2 NM_000251.2(MSH2):c.1076+1G>A SNV Pathogenic 90519 rs267607940 GRCh37: 2:47643569-47643569
GRCh38: 2:47416430-47416430
16 MSH2 NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter) SNV Pathogenic 90554 rs63749849 GRCh37: 2:47656951-47656951
GRCh38: 2:47429812-47429812
17 MSH2 NM_000251.2(MSH2):c.1216C>T (p.Arg406Ter) SNV Pathogenic 1755 rs63751108 GRCh37: 2:47657020-47657020
GRCh38: 2:47429881-47429881
18 MSH2 NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter) SNV Pathogenic 90903 rs63750636 GRCh37: 2:47703631-47703631
GRCh38: 2:47476492-47476492
19 MLH1 NM_000249.4(MLH1):c.2059C>T SNV Likely pathogenic 90014 rs63751275 GRCh37: 3:37090464-37090464
GRCh38: 3:37048973-37048973
20 MLH1 NM_000249.3(MLH1):c.208-3C>G SNV Likely pathogenic 90032 rs267607720 GRCh37: 3:37042443-37042443
GRCh38: 3:37000952-37000952
21 MLH1 NM_000249.3(MLH1):c.1897-2A>G SNV Likely pathogenic 89932 rs267607871 GRCh37: 3:37090006-37090006
GRCh38: 3:37048515-37048515
22 MLH1 NM_000249.4(MLH1):c.1943C>T SNV Likely pathogenic 89953 rs63750610 GRCh37: 3:37090054-37090054
GRCh38: 3:37048563-37048563
23 MSH2 NM_000251.2(MSH2):c.464T>C (p.Val155Ala) SNV Uncertain significance 483732 rs876658188 GRCh37: 2:47637330-47637330
GRCh38: 2:47410191-47410191
24 MSH2 NM_000251.2(MSH2):c.1254A>G (p.Ile418Met) SNV Uncertain significance 216341 rs751431238 GRCh37: 2:47657058-47657058
GRCh38: 2:47429919-47429919
25 MSH2 NM_000251.2(MSH2):c.1802A>G (p.Gln601Arg) SNV Uncertain significance 219605 rs779447213 GRCh37: 2:47702206-47702206
GRCh38: 2:47475067-47475067
26 MSH2 NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys) SNV Uncertain significance 90619 rs17217723 GRCh37: 2:47630458-47630458
GRCh38: 2:47403319-47403319
27 MSH2 NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala) SNV Uncertain significance 90512 rs267607939 GRCh37: 2:47643537-47643537
GRCh38: 2:47416398-47416398
28 MLH1 NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln) SNV Uncertain significance 41633 rs63750361 GRCh37: 3:37067255-37067255
GRCh38: 3:37025764-37025764
29 MLH1 NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg) SNV Uncertain significance 89705 rs63750527 GRCh37: 3:37067449-37067449
GRCh38: 3:37025958-37025958
30 MLH1 NM_000249.3(MLH1):c.1896+5G>A SNV Uncertain significance 483545 rs759870594 GRCh37: 3:37089179-37089179
GRCh38: 3:37047688-37047688
31 MSH2 NM_000251.2(MSH2):c.1748A>G (p.Asn583Ser) SNV Uncertain significance 41645 rs201118107 GRCh37: 2:47698190-47698190
GRCh38: 2:47471051-47471051
32 MSH2 NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser) SNV Uncertain significance 41646 rs41295288 GRCh37: 2:47702191-47702191
GRCh38: 2:47475052-47475052
33 MSH2 NM_000251.2(MSH2):c.376G>A (p.Gly126Ser) SNV Uncertain significance 186849 rs767371843 GRCh37: 2:47637242-47637242
GRCh38: 2:47410103-47410103
34 MLH1 NM_000249.3(MLH1):c.299G>A (p.Arg100Gln) SNV Uncertain significance 90132 rs63750266 GRCh37: 3:37042537-37042537
GRCh38: 3:37001046-37001046
35 MLH1 NM_000249.3(MLH1):c.844G>A (p.Ala282Thr) SNV Uncertain significance 455457 rs774689817 GRCh37: 3:37059050-37059050
GRCh38: 3:37017559-37017559
36 MLH1 NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser) SNV Uncertain significance 89605 rs63751467 GRCh37: 3:37061929-37061929
GRCh38: 3:37020438-37020438
37 MLH1 NM_000249.4(MLH1):c.1154G>A (p.Arg385His) SNV Uncertain significance 140759 rs63750430 GRCh37: 3:37067243-37067243
GRCh38: 3:37025752-37025752
38 MLH1 NM_000249.3(MLH1):c.1487C>G (p.Pro496Arg) SNV Uncertain significance 89751 rs63750226 GRCh37: 3:37070352-37070352
GRCh38: 3:37028861-37028861
39 MLH1 NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys) SNV Uncertain significance 89653 rs63750760 GRCh37: 3:37067242-37067242
GRCh38: 3:37025751-37025751
40 MSH2 NM_000251.3(MSH2):c.138C>G (p.His46Gln) SNV Uncertain significance 90654 rs33946261 GRCh37: 2:47630468-47630468
GRCh38: 2:47403329-47403329
41 MSH2 NM_000251.3(MSH2):c.435T>G (p.Ile145Met) SNV Uncertain significance 91097 rs63750124 GRCh37: 2:47637301-47637301
GRCh38: 2:47410162-47410162
42 MLH1 NM_000249.3(MLH1):c.955G>A (p.Glu319Lys) SNV Uncertain significance 90452 rs63750796 GRCh37: 3:37061871-37061871
GRCh38: 3:37020380-37020380
43 MLH1 NM_000249.3(MLH1):c.1039-3C>G SNV Uncertain significance 182518 rs730881737 GRCh37: 3:37067125-37067125
GRCh38: 3:37025634-37025634
44 MLH1 NM_000249.4(MLH1):c.1117G>A (p.Gly373Arg) SNV Uncertain significance 186843 rs766904735 GRCh37: 3:37067206-37067206
GRCh38: 3:37025715-37025715
45 MLH1 NM_000249.3(MLH1):c.1572G>T (p.Met524Ile) SNV Uncertain significance 187310 rs587779953 GRCh37: 3:37081690-37081690
GRCh38: 3:37040199-37040199
46 MLH1 NM_000249.3(MLH1):c.1775G>A (p.Ser592Asn) SNV Uncertain significance 219961 rs587782621 GRCh37: 3:37089053-37089053
GRCh38: 3:37047562-37047562
47 MLH1 NM_000249.3(MLH1):c.2042C>T (p.Ala681Val) SNV Uncertain significance 90011 rs63750864 GRCh37: 3:37090447-37090447
GRCh38: 3:37048956-37048956
48 MLH1 NM_000249.3(MLH1):c.2174G>A (p.Arg725His) SNV Uncertain significance 90082 rs566928243 GRCh37: 3:37092047-37092047
GRCh38: 3:37050556-37050556
49 MSH2 NM_000251.2(MSH2):c.1217G>A (p.Arg406Gln) SNV Uncertain significance 90569 rs146567853 GRCh37: 2:47657021-47657021
GRCh38: 2:47429882-47429882
50 MSH2 NM_000251.2(MSH2):c.2516A>G (p.His839Arg) SNV Uncertain significance 90990 rs63750027 GRCh37: 2:47707892-47707892
GRCh38: 2:47480753-47480753
Sources

Expression for Muir-Torre Syndrome

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Search GEO for disease gene expression data for Muir-Torre Syndrome.
Sources

Pathways for Muir-Torre Syndrome

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Pathways related to Muir-Torre Syndrome according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
DNA Double-Strand Break Repair 65
Show member pathways
 13.02 TP53 PMS2 MUTYH MSH6 MSH3 MSH2
2
Endometrial cancer 36
Show member pathways
 12.63 TP53 MSH6 MSH3 MSH2 MLH1 CDKN2A
3
Pathways in cancer 36
12.58 TP53 PTGER4 MSH6 MSH3 MSH2 MLH1
4
DNA Damage 4
12.32 TP53 MUTYH MSH6 MSH2 MLH1 CDKN2A
5
Direct p53 effectors 1
11.85 TP53 PMS2 MSH2 MLH1
6
Colorectal Cancer Metastasis 63
11.85 TP53 PTGER4 MSH6 MSH3 MSH2 MLH1
7
BRCA1 Pathway 63
Show member pathways
 11.61 TP53 MSH6 MSH2
8
Integrated Cancer Pathway 1
11.33 TP53 MSH6 MSH2
9
Platinum drug resistance 36
11.3 TP53 MSH6 MSH3 MSH2 MLH1 CDKN2A
10
Doxorubicin Pathway, Pharmacokinetics 60
Show member pathways
 11.23 TP53 MSH2 MLH1
11
Mismatch repair 1 36 65
Show member pathways
 11.15 PMS2 PMS1 MSH6 MSH3 MSH2 MLH3
12
Platinum Pathway, Pharmacokinetics/Pharmacodynamics 60
11.09 PMS2 MSH6 MSH2 MLH1
Sources

GO Terms for Muir-Torre Syndrome

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Cellular components related to Muir-Torre Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 male germ cell nucleus GO:0001673 9.37 MLH3 MLH1
2 MutLalpha complex GO:0032389 9.32 PMS2 MLH1
3 MutSalpha complex GO:0032301 9.26 MSH6 MSH2
4 mismatch repair complex GO:0032300 9.17 PMS2 PMS1 MSH6 MSH3 MSH2 MLH3
5 MutSbeta complex GO:0032302 9.16 MSH3 MSH2
6 chiasma GO:0005712 8.96 MLH3 MLH1

Biological processes related to Muir-Torre Syndrome according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 DNA repair GO:0006281 9.86 PMS2 PMS1 MUTYH MSH6 MSH3 MSH2
2 cellular response to DNA damage stimulus GO:0006974 9.81 TP53 PMS2 PMS1 MUTYH MSH6 MSH3
3 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.7 MSH6 MSH2 MLH1
4 reciprocal meiotic recombination GO:0007131 9.69 MSH3 MLH3 MLH1
5 determination of adult lifespan GO:0008340 9.65 TP53 MSH6 MSH2
6 negative regulation of DNA recombination GO:0045910 9.63 MSH6 MSH3 MSH2
7 somatic hypermutation of immunoglobulin genes GO:0016446 9.62 PMS2 MSH6 MSH2 MLH1
8 isotype switching GO:0045190 9.61 MSH6 MSH2 MLH1
9 positive regulation of helicase activity GO:0051096 9.58 MSH6 MSH3 MSH2
10 replicative senescence GO:0090399 9.57 TP53 CDKN2A
11 positive regulation of isotype switching to IgG isotypes GO:0048304 9.56 MSH2 MLH1
12 positive regulation of isotype switching to IgA isotypes GO:0048298 9.55 MSH2 MLH1
13 meiotic mismatch repair GO:0000710 9.54 MSH6 MSH3
14 maintenance of DNA repeat elements GO:0043570 9.54 MSH6 MSH3 MSH2
15 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.49 MSH2 MLH1
16 somatic recombination of immunoglobulin gene segments GO:0016447 9.26 MSH6 MSH3 MSH2 MLH1
17 mismatch repair GO:0006298 9.23 PMS2 PMS1 MUTYH MSH6 MSH3 MSH2

Molecular functions related to Muir-Torre Syndrome according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 10.14 TP53 PMS2 PMS1 MSH6 MSH3 MSH2
2 chromatin binding GO:0003682 9.96 TP53 MSH6 MSH2 MLH3 MLH1
3 enzyme binding GO:0019899 9.91 TP53 PMS1 MSH6 MSH3 MSH2 MLH1
4 ATPase activity GO:0016887 9.88 PMS2 PMS1 MSH6 MSH2 MLH3 MLH1
5 single-stranded DNA binding GO:0003697 9.8 PMS2 MSH3 MSH2 MLH1
6 DNA-dependent ATPase activity GO:0008094 9.7 MSH6 MSH3 MSH2
7 MDM2/MDM4 family protein binding GO:0097371 9.57 TP53 CDKN2A
8 centromeric DNA binding GO:0019237 9.55 MSH2 MLH3
9 MutSalpha complex binding GO:0032407 9.54 PMS2 MUTYH MLH1
10 dinucleotide insertion or deletion binding GO:0032139 9.51 MSH3 MSH2
11 MutLalpha complex binding GO:0032405 9.5 MUTYH MSH6 MSH2
12 dinucleotide repeat insertion binding GO:0032181 9.48 MSH3 MSH2
13 single thymine insertion binding GO:0032143 9.46 MSH6 MSH2
14 oxidized purine DNA binding GO:0032357 9.46 MUTYH MSH6 MSH3 MSH2
15 single guanine insertion binding GO:0032142 9.43 MSH6 MSH3 MSH2
16 guanine/thymine mispair binding GO:0032137 9.26 MSH6 MSH3 MSH2 MLH1
17 mismatched DNA binding GO:0030983 9.17 PMS2 PMS1 MSH6 MSH3 MSH2 MLH3
Sources

Sources for Muir-Torre Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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