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MRTES
MCID: MRT001
MIFTS: 58

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
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Aliases & Classifications for Muir-Torre Syndrome

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MalaCards integrated aliases for Muir-Torre Syndrome:

Name: Muir-Torre Syndrome 57 12 53 59 74 13 55 44 15 40
Muir-Torré Syndrome 29 6
Keratoacanthoma 53 72
Mrtes 57 74
Cutaneous Sebaceous Neoplasms and Keratoacanthomas, Multiple, with Gastrointestinal and Other Carcinomas 57
Cutaneous Sebaceous Neoplasms and Keratoacanthomas Multiple with Gastrointestinal and Other Carcinomas 53
Multiple Keratoacanthoma, Muir-Torre Type 59
Torre-Muir Syndrome 72
Mts 74

Characteristics:

Orphanet epidemiological data:

59
muir-torre syndrome
Inheritance: Autosomal dominant; Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
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: 34
Orphanet: 59  
Rare gastroenterological diseases
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0050465
OMIM 57 158320
MeSH 44 D055653
NCIt 50 C84905
MESH via Orphanet 45 D055653
ICD10 via Orphanet 34 L72.8
UMLS via Orphanet 73 C1321489
Orphanet 59 ORPHA587
MedGen 42 C1321489
UMLS 72 C0022572 C1321489
Sources

Summaries for Muir-Torre Syndrome

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NIH Rare Diseases : 53 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 adenoma and keratoacanthoma, and has symptoms including pruritus and exanthema. An important gene associated with Muir-Torre Syndrome is MSH2 (MutS Homolog 2), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Pathways in cancer. The drugs Lidocaine and Anesthetics, Local have been mentioned in the context of this disorder. Affiliated tissues include skin, colon 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 : 74 Muir-Torre syndrome: Rare autosomal dominant disorder characterized by sebaceous neoplasms and visceral malignancy.

Wikipedia : 75 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 580)
# Related Disease Score Top Affiliating Genes
1 adenoma 31.9 MUTYH MSH2 MLH1
2 keratoacanthoma 31.7 MSH2 MLH1
3 mismatch repair cancer syndrome 31.5 PMS2 PMS1 MSH6 MSH2 MLH1
4 lynch syndrome i 31.5 PMS2 PMS1 MSH6 MSH2 MLH1
5 sebaceous adenoma 31.1 PMS2 MSH6 MSH2 MLH1
6 colorectal adenocarcinoma 31.0 MSH6 MSH2 MLH1
7 skin benign neoplasm 30.9 MSH6 MSH2 MLH1
8 attenuated familial adenomatous polyposis 30.5 MUTYH MSH6 MSH2
9 familial colorectal cancer 30.5 MUTYH MSH2 MLH1
10 familial adenomatous polyposis 30.1 MUTYH MSH6 MSH2 MLH1
11 colorectal adenoma 30.0 MUTYH MSH2 MLH1
12 endometrial cancer 30.0 PMS2 MUTYH MSH6 MSH2 MLH1
13 lynch syndrome 29.6 PMS2 PMS1 MUTYH MSH6 MSH2 MLH1
14 brain cancer 29.5 PMS2 MSH6 MSH2
15 cecum adenocarcinoma 29.4 PMS1 MSH6 MSH2 MLH1
16 sebaceous adenocarcinoma 29.4 PMS2 PMS1 PLIN2 MSH6 MSH2 MLH1
17 gastric cancer 29.2 MUTYH MSH2 MLH1 FHIT
18 ovarian cancer 28.7 PMS1 MSH6 MSH2 MLH1
19 large intestine cancer 28.3 PMS2 PMS1 MUTYH MSH6 MSH2 MLH1
20 colorectal cancer 27.9 PMS2 PMS1 MUTYH MSH6 MSH2 MLH1
21 generalized eruptive keratoacanthoma 12.4
22 familial keratoacanthoma 12.4
23 mohr-tranebjaerg syndrome 12.2
24 vulvar keratoacanthoma-like carcinoma 12.2
25 multiple self-healing squamous epithelioma 12.0
26 basal cell carcinoma 1 11.6
27 diabetes and deafness, maternally inherited 11.6
28 chondrodysplasia punctata, tibia-metacarpal type 11.5
29 may-thurner syndrome 11.5
30 palmoplantar carcinoma, multiple self-healing 11.4
31 alzheimer disease mitochondrial 11.2
32 myoglobinuria, recurrent 11.2
33 acrocallosal syndrome 11.1
34 cardiomyopathy, infantile histiocytoid 11.1
35 myoclonic epilepsy associated with ragged-red fibers 11.1
36 joubert syndrome 2 11.1
37 joubert syndrome 6 11.1
38 joubert syndrome 14 11.1
39 joubert syndrome 32 11.1
40 erythrokeratoderma ''en cocardes'' 11.0
41 adenocarcinoma 10.8
42 sebaceous gland neoplasm 10.7
43 colon adenocarcinoma 10.6
44 basal cell carcinoma 10.6
45 rare genetic skin disease 10.6
46 transitional cell carcinoma 10.6
47 eyelid carcinoma 10.5
48 keratosis 10.5
49 clear cell acanthoma 10.5
50 acanthoma 10.5

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:

59 32 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 adenoma sebaceum 59 32 hallmark (90%) Very frequent (99-80%) HP:0009720
2 colon cancer 59 32 frequent (33%) Frequent (79-30%) HP:0003003
3 neoplasm of the stomach 59 32 frequent (33%) Frequent (79-30%) HP:0006753
4 breast carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0003002
5 endometrial carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0012114
6 neoplasm of the liver 59 32 occasional (7.5%) Occasional (29-5%) HP:0002896
7 hematological neoplasm 59 32 occasional (7.5%) Occasional (29-5%) HP:0004377
8 malignant genitourinary tract tumor 59 32 occasional (7.5%) Occasional (29-5%) HP:0006758
9 renal neoplasm 59 32 occasional (7.5%) Occasional (29-5%) HP:0009726
10 laryngeal carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0012118
11 salivary gland neoplasm 59 32 occasional (7.5%) Occasional (29-5%) HP:0100684
12 neoplasm of the skin 59 Very frequent (99-80%)
13 colonic diverticula 32 HP:0002253
14 basal cell carcinoma 32 HP:0002671
15 duodenal adenocarcinoma 32 HP:0006771
16 benign gastrointestinal tract tumors 32 HP:0006719
17 carcinoma 32 HP:0030731
18 benign genitourinary tract neoplasm 32 HP:0006778
19 sebaceous gland carcinoma 32 HP:0030410

Symptoms via clinical synopsis from OMIM:

57
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

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 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.1 MLH1 MSH2 MSH6 MUTYH PMS1 PMS2

MGI Mouse Phenotypes related to Muir-Torre Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 9.17 FHIT MLH1 MSH2 MSH6 MUTYH PMS1
Sources

Drugs & Therapeutics for Muir-Torre Syndrome

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

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
2 Anesthetics, Local Phase 4
3 Sodium Channel Blockers Phase 4
4 Diuretics, Potassium Sparing Phase 4
5 Anesthetics Phase 4
6 Central Nervous System Depressants Phase 4
7 Anti-Arrhythmia Agents Phase 4
8 Peripheral Nervous System Agents Phase 4
9
Talimogene laherparepvec Approved, Experimental, Investigational Phase 2 1187560-31-1
10
nivolumab Approved Phase 2 946414-94-4
11 Antineoplastic Agents, Immunological Phase 2
12
Sorafenib Approved, Investigational 284461-73-0 216239 406563
13 Protein Kinase Inhibitors

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 Recruiting 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 Suspended NCT02978625 Phase 2
4 Drug Use Investigation of Sorafenib/ NEXAVAR® for Unresectable Differentiated Thyroid Carcinoma (DTC) Recruiting NCT02185560 Sorafenib (Nexavar, BAY43-9006)

Search NIH Clinical Center for Muir-Torre Syndrome

Cochrane evidence based reviews: muir-torre syndrome

Sources

Genetic Tests for Muir-Torre Syndrome

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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:

41
Skin, Colon, Breast, Liver, Salivary Gland, Thyroid, Testes
Sources

Publications for Muir-Torre Syndrome

About this section

Articles related to Muir-Torre Syndrome:

(show top 50) (show all 412)
# Title Authors PMID Year
1
Identification of Muir-Torre syndrome among patients with sebaceous tumors and keratoacanthomas: role of clinical features, microsatellite instability, and immunohistochemistry. 38 8 71
15662714 2005
2
Spectrum of genetic alterations in Muir-Torre syndrome is the same as in HNPCC. 38 8 71
14994245 2004
3
The genetic basis of Muir-Torre syndrome includes the hMLH1 locus. 38 8 71
8751876 1996
4
Muir-Torre syndrome in several members of a family with a variant of the Cancer Family Syndrome. 38 8 71
4063166 1985
5
"Second hit" in sebaceous tumors from Muir-Torre patients with germline mutations in MSH2: allele loss is not the preferred mode of inactivation. 9 38 8
11231323 2001
6
Structure of the human MSH2 locus and analysis of two Muir-Torre kindreds for msh2 mutations. 9 38 71
7713503 1994
7
A clinical scoring system to identify patients with sebaceous neoplasms at risk for the Muir-Torre variant of Lynch syndrome. 38 8
24603434 2014
8
Germline novel MSH2 deletions and a founder MSH2 deletion associated with anticipation effects in HNPCC. 38 71
17250661 2007
9
A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome. 38 8
15235030 2004
10
Loss of fragile histidine triad (FHIT) expression and microsatellite instability in periocular sebaceous gland carcinoma in patients with Muir-Torre syndrome. 38 8
12095833 2002
11
Muir-Torre syndrome: case report of a patient with concurrent jejunal and ureteral cancer and a review of the literature. 38 8
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. 38 8
9634524 1998
13
Muir-Torre syndrome: clinical features and molecular genetic analysis. 38 71
9217825 1997
14
Is the mismatch repair deficient type of Muir-Torre syndrome confined to mutations in the hMSH2 gene? 38 8
8931714 1996
15
The Muir-Torre syndrome: a 25-year retrospect. 38 8
7601953 1995
16
Clinicopathological relevance of the association between gastrointestinal and sebaceous neoplasms: the Muir-Torre syndrome. 38 71
7705822 1995
17
Muir-Torre syndrome: a variant of the cancer family syndrome. 38 8
7815421 1994
18
Genetic linkage in Muir-Torre syndrome to the same chromosomal region as cancer family syndrome. 38 8
8155392 1994
19
Muir-Torre syndrome associated with a family history of hyperlipidemia. 38 8
8436639 1993
20
Muir-Torre syndrome in patients with hematologic malignancies. 38 8
1566750 1992
21
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. 38 8
2050856 1991
22
Association of sebaceous gland tumors and internal malignancy: the Muir-Torre syndrome. 38 8
2029018 1991
23
Muir-Torre syndrome: report of a case and reevaluation of the dermatopathologic features. 38 8
7074588 1982
24
Identification of individuals at risk for Lynch syndrome using targeted evaluations and genetic testing: National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Colorectal Cancer joint practice guideline. 71
22167527 2012
25
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). 71
15942939 2005
26
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 71
15604628 2004
27
Lynch Syndrome 71
20301390 2004
28
Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal cancer--supporting documentation. 71
11598466 2001
29
Muir-Torre-like syndrome in Fhit-deficient mice. 8
10758156 2000
30
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. 71
8198129 1994
31
The Muir-Torre (Torre's) syndrome: the significance of a solitary sebaceous tumor. 8
2229491 1990
32
Torre's syndrome: exacerbation of cutaneous manifestations with immunosuppression. 8
3771859 1986
33
Sebaceous gland tumors and systemic disease: a clinicopathologic analysis. 8
6738344 1984
34
The cancer family syndrome. Rare cutaneous phenotypic linkage of Torre's syndrome. 8
7224741 1981
35
The Torre syndrome with gastrointestinal polyposis. 8
7369749 1980
36
[Multiple kerato-acanthomas and visceral carcinomas: Torre's syndrome]. 8
610516 1977
37
Multiple sebaceous adenomas and internal malignant disease: a case report with chromosomal analysis. 8
964982 1976
38
[Sebaceous hyperplasias, kerato-acanthomas, epitheliomas of the face and cancer of the colon. A new entity?]. 8
992186 1976
39
Multiple sebaceous gland tumours associated with polyposis of the colon and bony abnormalities. 8
4545832 1974
40
Multiple sebaceous gland tumors and internal carcinoma: Torre's syndrome. 8
4815585 1974
41
Multiple sebaceous neoplasms of the skin: an association with multiple visceral carcinomas, especially of the colon. 8
4758274 1973
42
Multiple sebaceous tumors. 8
5684233 1968
43
Multiple primary carcinomata of the colon, duodenum, and larynx associated with kerato-acanthomata of the face. 8
6020987 1967
44
Biallelic MYH germline mutations as cause of Muir-Torre syndrome. 9 38
19998059 2010
45
[Muir-Torre syndrome: rare association with duodenal carcinoma]. 9 38
20005439 2009
46
Identifying Muir-Torre syndrome in a patient with glioblastoma multiforme. 9 38
19028998 2009
47
The frequency of Muir-Torre syndrome among Lynch syndrome families. 9 38
18270343 2008
48
Muir-Torre Syndrome: expanding the genotype and phenotype--a further family with a MSH6 mutation. 9 38
18236172 2008
49
Muir-Torre syndrome caused by partial duplication of MSH2 gene by Alu-mediated nonhomologous recombination. 9 38
17941949 2008
50
An individual with Muir-Torre syndrome found to have a pathogenic MSH6 gene mutation. 9 38
17323113 2007
Sources

Variations for Muir-Torre Syndrome

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ClinVar genetic disease variations for Muir-Torre Syndrome:

6 (show top 50) (show all 66)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MSH2 NM_000251.2(MSH2): c.1216C> T (p.Arg406Ter) single nucleotide variant Pathogenic rs63751108 2:47657020-47657020 2:47429881-47429881
2 MSH2 NM_000251.2(MSH2): c.1801C> T (p.Gln601Ter) single nucleotide variant Pathogenic rs63750047 2:47702205-47702205 2:47475066-47475066
3 MSH2 NM_000251.2(MSH2): c.269_290dup (p.Tyr98fs) duplication Pathogenic rs1553350126 2:47635597-47635618 2:47408458-47408479
4 MSH2 NM_000251.2(MSH2): c.1906G> C (p.Ala636Pro) single nucleotide variant Pathogenic rs63750875 2:47702310-47702310 2:47475171-47475171
5 MSH2 MSH2, 32-KB DEL, EX1-6 deletion Pathogenic
6 MLH1 MLH1, 370-BP DEL deletion Pathogenic
7 MLH1 NM_000249.3(MLH1): c.2041G> A (p.Ala681Thr) single nucleotide variant Pathogenic rs63750217 3:37090446-37090446 3:37048955-37048955
8 MLH1 NM_000249.3(MLH1): c.1381A> T (p.Lys461Ter) single nucleotide variant Pathogenic rs63750540 3:37067470-37067470 3:37025979-37025979
9 MLH1 NM_000249.3(MLH1): c.1459C> T (p.Arg487Ter) single nucleotide variant Pathogenic rs63749795 3:37070324-37070324 3:37028833-37028833
10 MLH1 NM_000249.3(MLH1): c.2059C> T (p.Arg687Trp) single nucleotide variant Pathogenic rs63751275 3:37090464-37090464 3:37048973-37048973
11 MLH1 NM_000249.3(MLH1): c.306+5G> A single nucleotide variant Pathogenic rs267607735 3:37042549-37042549 3:37001058-37001058
12 MLH1 NM_000249.3(MLH1): c.588+5G> A single nucleotide variant Pathogenic rs267607768 3:37053358-37053358 3:37011867-37011867
13 MSH2 NM_000251.2(MSH2): c.1076+1G> A single nucleotide variant Pathogenic rs267607940 2:47643569-47643569 2:47416430-47416430
14 MSH2 NM_000251.2(MSH2): c.1147C> T (p.Arg383Ter) single nucleotide variant Pathogenic rs63749849 2:47656951-47656951 2:47429812-47429812
15 MSH2 NM_000251.2(MSH2): c.868G> T (p.Glu290Ter) single nucleotide variant Pathogenic rs587779190 2:47641483-47641483 2:47414344-47414344
16 MSH2 NM_000251.2(MSH2): c.1861C> T (p.Arg621Ter) single nucleotide variant Pathogenic rs63750508 2:47702265-47702265 2:47475126-47475126
17 MSH2 NM_000251.2(MSH2): c.2131C> T (p.Arg711Ter) single nucleotide variant Pathogenic rs63750636 2:47703631-47703631 2:47476492-47476492
18 LRRFIP2 ; MLH1 GRCh37/hg19 3p22.2(chr3: 37089011-37116538) copy number loss Pathogenic 3:37089011-37116538 :0-0
19 MLH1 NM_000249.3(MLH1): c.885-1G> A single nucleotide variant Pathogenic/Likely pathogenic 3:37061800-37061800 3:37020309-37020309
20 MLH1 NM_000249.3(MLH1): c.208-3C> G single nucleotide variant Likely pathogenic rs267607720 3:37042443-37042443 3:37000952-37000952
21 MLH1 NM_000249.3(MLH1): c.1897-2A> G single nucleotide variant Likely pathogenic rs267607871 3:37090006-37090006 3:37048515-37048515
22 MLH1 NM_000249.3(MLH1): c.1943C> T (p.Pro648Leu) single nucleotide variant Likely pathogenic rs63750610 3:37090054-37090054 3:37048563-37048563
23 MLH1 NM_000249.3(MLH1): c.1558+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs199935667 3:37070428-37070428 3:37028937-37028937
24 MLH1 NM_000249.3(MLH1): c.1730C> T (p.Ser577Leu) single nucleotide variant Uncertain significance rs56185292 3:37083821-37083821 3:37042330-37042330
25 MSH2 NM_000251.2(MSH2): c.1238A> C (p.Gln413Pro) single nucleotide variant Uncertain significance rs587779962 2:47657042-47657042 2:47429903-47429903
26 MLH1 NM_000249.3(MLH1): c.1154G> A (p.Arg385His) single nucleotide variant Uncertain significance rs63750430 3:37067243-37067243 3:37025752-37025752
27 MSH2 NM_000251.2(MSH2): c.1927G> A (p.Glu643Lys) single nucleotide variant Uncertain significance rs374840361 2:47702331-47702331 2:47475192-47475192
28 MSH2 NM_000251.2(MSH2): c.383T> G (p.Leu128Arg) single nucleotide variant Uncertain significance rs730881768 2:47637249-47637249 2:47410110-47410110
29 MLH1 NM_000249.3(MLH1): c.1039-3C> G single nucleotide variant Uncertain significance rs730881737 3:37067125-37067125 3:37025634-37025634
30 MLH1 NM_000249.3(MLH1): c.1243G> A (p.Asp415Asn) single nucleotide variant Uncertain significance rs373767220 3:37067332-37067332 3:37025841-37025841
31 MSH2 NM_000251.2(MSH2): c.376G> A (p.Gly126Ser) single nucleotide variant Uncertain significance rs767371843 2:47637242-47637242 2:47410103-47410103
32 MLH1 NM_000249.3(MLH1): c.1117G> A (p.Gly373Arg) single nucleotide variant Uncertain significance rs766904735 3:37067206-37067206 3:37025715-37025715
33 MLH1 NM_000249.3(MLH1): c.1572G> T (p.Met524Ile) single nucleotide variant Uncertain significance rs587779953 3:37081690-37081690 3:37040199-37040199
34 MSH2 NM_000251.2(MSH2): c.1254A> G (p.Ile418Met) single nucleotide variant Uncertain significance rs751431238 2:47657058-47657058 2:47429919-47429919
35 MSH2 NM_000251.2(MSH2): c.1802A> G (p.Gln601Arg) single nucleotide variant Uncertain significance rs779447213 2:47702206-47702206 2:47475067-47475067
36 MLH1 NM_000249.3(MLH1): c.1118G> A (p.Gly373Glu) single nucleotide variant Uncertain significance rs774878513 3:37067207-37067207 3:37025716-37025716
37 MLH1 NM_000249.3(MLH1): c.1775G> A (p.Ser592Asn) single nucleotide variant Uncertain significance rs587782621 3:37089053-37089053 3:37047562-37047562
38 MSH2 NM_000251.2(MSH2): c.1825G> T (p.Ala609Ser) single nucleotide variant Uncertain significance rs150980616 2:47702229-47702229 2:47475090-47475090
39 MLH1 NM_000249.3(MLH1): c.226G> A (p.Val76Ile) single nucleotide variant Uncertain significance rs878853788 3:37042464-37042464 3:37000973-37000973
40 MSH2 NM_000251.2(MSH2): c.2516A> G (p.His839Arg) single nucleotide variant Uncertain significance rs63750027 2:47707892-47707892 2:47480753-47480753
41 MSH2 NM_000251.2(MSH2): c.435T> G (p.Ile145Met) single nucleotide variant Uncertain significance rs63750124 2:47637301-47637301 2:47410162-47410162
42 MSH2 NM_000251.2(MSH2): c.2009C> T (p.Pro670Leu) single nucleotide variant Uncertain significance rs41294982 2:47703509-47703509 2:47476370-47476370
43 MLH1 NM_000249.3(MLH1): c.91_92delinsTG (p.Ala31Cys) indel Uncertain significance rs63749994 3:37035129-37035130 3:36993638-36993639
44 MLH1 NM_000249.3(MLH1): c.955G> A (p.Glu319Lys) single nucleotide variant Uncertain significance rs63750796 3:37061871-37061871 3:37020380-37020380
45 MSH2 NM_000251.2(MSH2): c.1045C> G (p.Pro349Ala) single nucleotide variant Uncertain significance rs267607939 2:47643537-47643537 2:47416398-47416398
46 MLH1 NM_000249.3(MLH1): c.2042C> T (p.Ala681Val) single nucleotide variant Uncertain significance rs63750864 3:37090447-37090447 3:37048956-37048956
47 MLH1 NM_000249.3(MLH1): c.1487C> G (p.Pro496Arg) single nucleotide variant Uncertain significance rs63750226 3:37070352-37070352 3:37028861-37028861
48 MLH1 NM_000249.3(MLH1): c.2174G> A (p.Arg725His) single nucleotide variant Uncertain significance rs566928243 3:37092047-37092047 3:37050556-37050556
49 MLH1 NM_000249.3(MLH1): c.299G> A (p.Arg100Gln) single nucleotide variant Uncertain significance rs63750266 3:37042537-37042537 3:37001046-37001046
50 MSH2 NM_000251.2(MSH2): c.1217G> A (p.Arg406Gln) single nucleotide variant Uncertain significance rs146567853 2:47657021-47657021 2:47429882-47429882
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 66
Show member pathways
 12.77 PMS2 MUTYH MSH6 MSH2 MLH1
2
Pathways in cancer 37
12.46 MSH6 MSH2 MLH1 IFNA2
3
DNA Damage 4
12.03 MUTYH MSH6 MSH2 MLH1
4
Colorectal Cancer Metastasis 64
11.8 MSH6 MSH2 MLH1
5
Direct p53 effectors 1
11.62 PMS2 MSH2 MLH1
6
DNA damage_Role of Brca1 and Brca2 in DNA repair 22
11.23 MSH6 MSH2 MLH1
7
Platinum drug resistance 37
11.2 MSH6 MSH2 MLH1
8
Integrated Cancer Pathway 1
11.17 MSH6 MSH2
9
Busulfan Pathway, Pharmacodynamics 61
Show member pathways
 11.14 MSH2 MLH1
10
Doxorubicin Pathway, Pharmacokinetics 61
Show member pathways
 11.08 MSH2 MLH1
11
Mismatch repair 1 37 66
Show member pathways
 11 PMS2 PMS1 MSH6 MSH2 MLH1
12
Platinum Pathway, Pharmacokinetics/Pharmacodynamics 61
10.72 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 MutSalpha complex GO:0032301 9.16 MSH6 MSH2
2 MutLalpha complex GO:0032389 9.13 PMS2 PMS1 MLH1
3 mismatch repair complex GO:0032300 9.02 PMS2 PMS1 MSH6 MSH2 MLH1

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.8 PMS2 PMS1 MUTYH MSH6 MSH2 MLH1
2 response to drug GO:0042493 9.75 PMS2 PMS1 PLIN2
3 DNA repair GO:0006281 9.73 PMS2 PMS1 MUTYH MSH6 MSH2 MLH1
4 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.61 MSH6 MSH2 MLH1
5 negative regulation of DNA recombination GO:0045910 9.56 MSH6 MSH2
6 determination of adult lifespan GO:0008340 9.55 MSH6 MSH2
7 positive regulation of isotype switching to IgG isotypes GO:0048304 9.54 MSH2 MLH1
8 isotype switching GO:0045190 9.54 MSH6 MSH2 MLH1
9 positive regulation of helicase activity GO:0051096 9.52 MSH6 MSH2
10 positive regulation of isotype switching to IgA isotypes GO:0048298 9.49 MSH2 MLH1
11 maintenance of DNA repeat elements GO:0043570 9.48 MSH6 MSH2
12 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.4 MSH2 MLH1
13 somatic recombination of immunoglobulin gene segments GO:0016447 9.33 MSH6 MSH2 MLH1
14 interstrand cross-link repair GO:0036297 9.27 MSH6
15 somatic hypermutation of immunoglobulin genes GO:0016446 9.26 PMS2 MSH6 MSH2 MLH1
16 pyrimidine dimer repair GO:0006290 9.21 MSH6
17 meiotic mismatch repair GO:0000710 9.16 MSH6
18 mismatch repair GO:0006298 9.1 PMS2 PMS1 MUTYH MSH6 MSH2 MLH1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.93 PMS2 PMS1 MSH6 MSH2 MLH1
2 enzyme binding GO:0019899 9.78 PMS1 MSH6 MSH2 MLH1
3 ATPase activity GO:0016887 9.77 PMS2 PMS1 MSH6 MSH2 MLH1
4 single-stranded DNA binding GO:0003697 9.58 PMS2 MSH2 MLH1
5 damaged DNA binding GO:0003684 9.55 MSH6 MSH2
6 DNA-dependent ATPase activity GO:0008094 9.52 MSH6 MSH2
7 ADP binding GO:0043531 9.51 MSH6 MSH2
8 oxidized purine DNA binding GO:0032357 9.5 MUTYH MSH6 MSH2
9 four-way junction DNA binding GO:0000400 9.49 MSH6 MSH2
10 single thymine insertion binding GO:0032143 9.46 MSH6 MSH2
11 single guanine insertion binding GO:0032142 9.43 MSH6 MSH2
12 MutSalpha complex binding GO:0032407 9.43 PMS2 MUTYH MLH1
13 MutLalpha complex binding GO:0032405 9.33 MUTYH MSH6 MSH2
14 guanine/thymine mispair binding GO:0032137 9.13 MSH6 MSH2 MLH1
15 mismatched DNA binding GO:0030983 9.02 PMS2 PMS1 MSH6 MSH2 MLH1
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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 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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