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MRTES
MCID: MRT001
MIFTS: 60

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 56 12 52 58 73 13 54 43 15 39
Muir-Torré Syndrome 29 6
Keratoacanthoma 52 71
Mrtes 56 73
Cutaneous Sebaceous Neoplasms and Keratoacanthomas, Multiple, with Gastrointestinal and Other Carcinomas 56
Cutaneous Sebaceous Neoplasms and Keratoacanthomas Multiple with Gastrointestinal and Other Carcinomas 52
Multiple Keratoacanthoma, Muir-Torre Type 58
Torre-Muir Syndrome 71
Mts 73

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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 56 158320
MeSH 43 D055653
NCIt 49 C84905
MESH via Orphanet 44 D055653
ICD10 via Orphanet 33 L72.8
UMLS via Orphanet 72 C1321489
Orphanet 58 ORPHA587
MedGen 41 C1321489
UMLS 71 C0022572 C1321489
Sources

Summaries for Muir-Torre Syndrome

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NIH Rare Diseases : 52 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 and lynch syndrome i, 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 TCR Signaling (Qiagen). 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 : 73 Muir-Torre syndrome: Rare autosomal dominant disorder characterized by sebaceous neoplasms and visceral malignancy.

Wikipedia : 74 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 639)
# Related Disease Score Top Affiliating Genes
1 mismatch repair cancer syndrome 33.0 PMS2 PMS1 MSH6 MSH2 MLH1
2 lynch syndrome i 32.3 PMS2 PMS1 MSH6 MSH2 MLH1 EPCAM
3 keratoacanthoma 31.5 TP53 MSH2 MLH1
4 adenoma 31.5 TP53 MUTYH MSH6 MSH2 MLH1
5 sebaceous adenoma 31.3 PMS2 PLIN2 MUTYH MSH6 MSH2 MLH1
6 jejunal adenocarcinoma 31.0 MSH6 MLH1
7 myh-associated polyposis 31.0 MUTYH MSH2
8 ascending colon cancer 31.0 MSH2 MLH1
9 attenuated familial adenomatous polyposis 30.9 MUTYH MSH6 MSH2
10 skin benign neoplasm 30.8 MSH6 MSH2 MLH1 CLEC2A
11 sebaceous adenocarcinoma 30.8 TP53 PMS2 PMS1 PLIN2 MSH6 MSH2
12 meibomian cyst 30.7 PLIN2 CLEC2A
13 transitional cell carcinoma 30.7 TP53 MSH2 MLH1 IFNA2 FHIT
14 rectum cancer 30.6 MUTYH MSH6 MSH2 MLH1
15 adenocarcinoma 30.6 TP53 MSH6 MSH2 MLH1 EPCAM
16 colorectal adenocarcinoma 30.6 TP53 PMS2 MSH6 MSH2 MLH1
17 familial colorectal cancer 30.4 TP53 MUTYH MSH2 MLH1
18 colon adenocarcinoma 30.2 TP53 PMS2 MSH6 MLH1 EPCAM
19 kidney cancer 30.0 TP53 PLIN2 IFNA2 FHIT
20 conjunctival squamous cell carcinoma 30.0 TP53 IFNA2
21 suppressor of tumorigenicity 3 29.9 TP53 FHIT
22 colorectal adenoma 29.9 TP53 MUTYH MSH2 MLH1
23 rectum adenocarcinoma 29.8 TP53 SIL1 PMS2 MSH6 MSH2 MLH1
24 skin squamous cell carcinoma 29.7 TP53 PMS2 MSH6 MSH2 MLH1 CLEC2A
25 endometrial cancer 29.6 TP53 PMS2 MUTYH MSH6 MSH3 MSH2
26 sebaceous gland neoplasm 29.6 PMS2 PMS1 PLIN2 MUTYH MSH6 MSH2
27 familial adenomatous polyposis 29.5 TP53 PMS1 MUTYH MSH6 MSH3 MSH2
28 xeroderma pigmentosum, variant type 29.2 TP53 MSH6 MSH3 MSH2 MLH1
29 colorectal cancer 28.0 TP53 SIL1 PMS2 PMS1 MUTYH MSH6
30 lynch syndrome 27.0 TP53 SIL1 REEP5 PMS2 PMS1 MUTYH
31 generalized eruptive keratoacanthoma 12.4
32 familial keratoacanthoma 12.4
33 mohr-tranebjaerg syndrome 12.3
34 vulvar keratoacanthoma-like carcinoma 12.2
35 multiple self-healing squamous epithelioma 12.0
36 basal cell carcinoma 1 11.6
37 diabetes and deafness, maternally inherited 11.6
38 chondrodysplasia punctata, tibia-metacarpal type 11.5
39 may-thurner syndrome 11.5
40 palmoplantar carcinoma, multiple self-healing 11.4
41 alzheimer disease mitochondrial 11.2
42 myoglobinuria, recurrent 11.2
43 acrocallosal syndrome 11.1
44 cardiomyopathy, infantile histiocytoid 11.1
45 myoclonic epilepsy associated with ragged-red fibers 11.1
46 joubert syndrome 2 11.1
47 joubert syndrome 6 11.1
48 joubert syndrome 14 11.1
49 joubert syndrome 32 11.1
50 erythrokeratoderma ''en cocardes'' 11.0

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 duodenal adenocarcinoma 31 HP:0006771
16 benign gastrointestinal tract tumors 31 HP:0006719
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:

56
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 9.32 AFAP1 MLH1 MLH3 MSH2 MSH3 MSH6

MGI Mouse Phenotypes related to Muir-Torre Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.7 EPCAM FHIT MLH1 MSH2 MSH3 PMS2
2 integument MP:0010771 9.56 AFAP1 FHIT MLH1 MSH2 MSH3 MSH6
3 neoplasm MP:0002006 9.28 FHIT MLH1 MSH2 MSH3 MSH6 MUTYH
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 12)
# 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 Anti-Arrhythmia Agents Phase 4
4 Anesthetics Phase 4
5 Sodium Channel Blockers Phase 4
6 Central Nervous System Depressants Phase 4
7 Diuretics, Potassium Sparing Phase 4
8
Talimogene laherparepvec Approved, Experimental, Investigational Phase 2 1187560-31-1
9
nivolumab Approved Phase 2 946414-94-4
10 Antineoplastic Agents, Immunological Phase 2
11
Sorafenib Approved, Investigational 284461-73-0 216239 406563
12 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

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MalaCards organs/tissues related to Muir-Torre Syndrome:

40
Skin, Colon, Breast, Heart, Liver, Lung, Brain
Sources

Publications for Muir-Torre Syndrome

About this section

Articles related to Muir-Torre Syndrome:

(show top 50) (show all 424)
# 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. 61 56 6
15662714 2005
2
Spectrum of genetic alterations in Muir-Torre syndrome is the same as in HNPCC. 61 56 6
14994245 2004
3
The genetic basis of Muir-Torre syndrome includes the hMLH1 locus. 61 56 6
8751876 1996
4
Muir-Torre syndrome in several members of a family with a variant of the Cancer Family Syndrome. 61 56 6
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. 54 61 56
11231323 2001
6
Structure of the human MSH2 locus and analysis of two Muir-Torre kindreds for msh2 mutations. 54 61 6
7713503 1994
7
A clinical scoring system to identify patients with sebaceous neoplasms at risk for the Muir-Torre variant of Lynch syndrome. 61 56
24603434 2014
8
Germline novel MSH2 deletions and a founder MSH2 deletion associated with anticipation effects in HNPCC. 61 6
17250661 2007
9
A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome. 61 56
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 56
12095833 2002
11
Muir-Torre syndrome: case report of a patient with concurrent jejunal and ureteral cancer and a review of the literature. 61 56
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 56
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? 61 56
8931714 1996
15
The Muir-Torre syndrome: a 25-year retrospect. 61 56
7601953 1995
16
Clinicopathological relevance of the association between gastrointestinal and sebaceous neoplasms: the Muir-Torre syndrome. 61 6
7705822 1995
17
Muir-Torre syndrome: a variant of the cancer family syndrome. 61 56
7815421 1994
18
Genetic linkage in Muir-Torre syndrome to the same chromosomal region as cancer family syndrome. 61 56
8155392 1994
19
Muir-Torre syndrome associated with a family history of hyperlipidemia. 61 56
8436639 1993
20
Muir-Torre syndrome in patients with hematologic malignancies. 61 56
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. 61 56
2050856 1991
22
Association of sebaceous gland tumors and internal malignancy: the Muir-Torre syndrome. 61 56
2029018 1991
23
Muir-Torre syndrome: report of a case and reevaluation of the dermatopathologic features. 61 56
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. 6
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). 6
15942939 2005
26
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 6
15604628 2004
27
Lynch Syndrome 6
20301390 2004
28
Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal cancer--supporting documentation. 6
11598466 2001
29
Muir-Torre-like syndrome in Fhit-deficient mice. 56
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. 6
8198129 1994
31
The Muir-Torre (Torre's) syndrome: the significance of a solitary sebaceous tumor. 56
2229491 1990
32
Torre's syndrome: exacerbation of cutaneous manifestations with immunosuppression. 56
3771859 1986
33
Sebaceous gland tumors and systemic disease: a clinicopathologic analysis. 56
6738344 1984
34
The cancer family syndrome. Rare cutaneous phenotypic linkage of Torre's syndrome. 56
7224741 1981
35
The Torre syndrome with gastrointestinal polyposis. 56
7369749 1980
36
[Multiple kerato-acanthomas and visceral carcinomas: Torre's syndrome]. 56
610516 1977
37
Multiple sebaceous adenomas and internal malignant disease: a case report with chromosomal analysis. 56
964982 1976
38
[Sebaceous hyperplasias, kerato-acanthomas, epitheliomas of the face and cancer of the colon. A new entity?]. 56
992186 1976
39
Multiple sebaceous gland tumours associated with polyposis of the colon and bony abnormalities. 56
4545832 1974
40
Multiple sebaceous gland tumors and internal carcinoma: Torre's syndrome. 56
4815585 1974
41
Multiple sebaceous neoplasms of the skin: an association with multiple visceral carcinomas, especially of the colon. 56
4758274 1973
42
Multiple sebaceous tumors. 56
5684233 1968
43
Multiple primary carcinomata of the colon, duodenum, and larynx associated with kerato-acanthomata of the face. 56
6020987 1967
44
Biallelic MYH germline mutations as cause of Muir-Torre syndrome. 54 61
19998059 2010
45
[Muir-Torre syndrome: rare association with duodenal carcinoma]. 54 61
20005439 2009
46
Identifying Muir-Torre syndrome in a patient with glioblastoma multiforme. 54 61
19028998 2009
47
The frequency of Muir-Torre syndrome among Lynch syndrome families. 54 61
18270343 2008
48
Muir-Torre Syndrome: expanding the genotype and phenotype--a further family with a MSH6 mutation. 54 61
18236172 2008
49
Muir-Torre syndrome caused by partial duplication of MSH2 gene by Alu-mediated nonhomologous recombination. 54 61
17941949 2008
50
An individual with Muir-Torre syndrome found to have a pathogenic MSH6 gene mutation. 54 61
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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MSH2 NM_000251.2(MSH2):c.1216C>T (p.Arg406Ter)SNV Pathogenic 1755 rs63751108 2:47657020-47657020 2:47429881-47429881
2 MSH2 NM_000251.2(MSH2):c.1801C>T (p.Gln601Ter)SNV Pathogenic 1758 rs63750047 2:47702205-47702205 2:47475066-47475066
3 MSH2 NM_000251.2(MSH2):c.269_290dup (p.Tyr98fs)duplication Pathogenic 1761 rs1553350126 2:47635595-47635596 2:47408456-47408457
4 MSH2 NM_000251.2(MSH2):c.1906G>C (p.Ala636Pro)SNV Pathogenic 1764 rs63750875 2:47702310-47702310 2:47475171-47475171
5 MSH2 MSH2, 32-KB DEL, EX1-6deletion Pathogenic 1774
6 MLH1 MLH1, 370-BP DELdeletion Pathogenic 17083
7 MLH1 NM_000249.3(MLH1):c.2041G>A (p.Ala681Thr)SNV Pathogenic 17099 rs63750217 3:37090446-37090446 3:37048955-37048955
8 MLH1 NM_000249.3(MLH1):c.1381A>T (p.Lys461Ter)SNV Pathogenic 36540 rs63750540 3:37067470-37067470 3:37025979-37025979
9 MLH1 NM_000249.3(MLH1):c.1459C>T (p.Arg487Ter)SNV Pathogenic 89744 rs63749795 3:37070324-37070324 3:37028833-37028833
10 MLH1 NM_000249.3(MLH1):c.2059C>T (p.Arg687Trp)SNV Pathogenic 90014 rs63751275 3:37090464-37090464 3:37048973-37048973
11 MLH1 NM_000249.3(MLH1):c.306+5G>ASNV Pathogenic 90148 rs267607735 3:37042549-37042549 3:37001058-37001058
12 MLH1 NM_000249.3(MLH1):c.588+5G>ASNV Pathogenic 90285 rs267607768 3:37053358-37053358 3:37011867-37011867
13 MSH2 NM_000251.2(MSH2):c.1076+1G>ASNV Pathogenic 90519 rs267607940 2:47643569-47643569 2:47416430-47416430
14 MSH2 NM_000251.2(MSH2):c.1147C>T (p.Arg383Ter)SNV Pathogenic 90554 rs63749849 2:47656951-47656951 2:47429812-47429812
15 MSH2 NM_000251.2(MSH2):c.1861C>T (p.Arg621Ter)SNV Pathogenic 90804 rs63750508 2:47702265-47702265 2:47475126-47475126
16 MSH2 NM_000251.2(MSH2):c.868G>T (p.Glu290Ter)SNV Pathogenic 91235 rs587779190 2:47641483-47641483 2:47414344-47414344
17 MSH2 NM_000251.2(MSH2):c.2131C>T (p.Arg711Ter)SNV Pathogenic 90903 rs63750636 2:47703631-47703631 2:47476492-47476492
18 LRRFIP2 , MLH1 GRCh37/hg19 3p22.2(chr3:37089011-37116538)copy number loss Pathogenic 625694 3:37089011-37116538
19 MLH1 NM_000249.3(MLH1):c.885-1G>ASNV Pathogenic/Likely pathogenic 580133 rs1553647894 3:37061800-37061800 3:37020309-37020309
20 MLH1 NM_000249.3(MLH1):c.208-3C>GSNV Likely pathogenic 90032 rs267607720 3:37042443-37042443 3:37000952-37000952
21 MLH1 NM_000249.3(MLH1):c.1897-2A>GSNV Likely pathogenic 89932 rs267607871 3:37090006-37090006 3:37048515-37048515
22 MLH1 NM_000249.3(MLH1):c.1943C>T (p.Pro648Leu)SNV Likely pathogenic 89953 rs63750610 3:37090054-37090054 3:37048563-37048563
23 MLH1 NM_000249.3(MLH1):c.1166G>A (p.Arg389Gln)SNV Conflicting interpretations of pathogenicity 41633 rs63750361 3:37067255-37067255 3:37025764-37025764
24 MSH2 NM_000251.2(MSH2):c.1748A>G (p.Asn583Ser)SNV Conflicting interpretations of pathogenicity 41645 rs201118107 2:47698190-47698190 2:47471051-47471051
25 MSH2 NM_000251.2(MSH2):c.1787A>G (p.Asn596Ser)SNV Conflicting interpretations of pathogenicity 41646 rs41295288 2:47702191-47702191 2:47475052-47475052
26 MLH1 NM_000249.3(MLH1):c.1013A>G (p.Asn338Ser)SNV Conflicting interpretations of pathogenicity 89605 rs63751467 3:37061929-37061929 3:37020438-37020438
27 MLH1 NM_000249.3(MLH1):c.2174G>A (p.Arg725His)SNV Conflicting interpretations of pathogenicity 90082 rs566928243 3:37092047-37092047 3:37050556-37050556
28 MLH1 NM_001167617.2(MLH1):c.1066G>C (p.Gly356Arg)SNV Conflicting interpretations of pathogenicity 89705 rs63750527 3:37067449-37067449 3:37025958-37025958
29 MSH2 NM_000251.2(MSH2):c.2516A>G (p.His839Arg)SNV Conflicting interpretations of pathogenicity 90990 rs63750027 2:47707892-47707892 2:47480753-47480753
30 MSH2 NM_000251.2(MSH2):c.435T>G (p.Ile145Met)SNV Conflicting interpretations of pathogenicity 91097 rs63750124 2:47637301-47637301 2:47410162-47410162
31 MLH1 NM_000249.3(MLH1):c.1558+5G>ASNV Conflicting interpretations of pathogenicity 127615 rs199935667 3:37070428-37070428 3:37028937-37028937
32 MLH1 NM_001167617.2(MLH1):c.-426_-425delinsTGindel Conflicting interpretations of pathogenicity 90442 rs63749994 3:37035129-37035130 3:36993638-36993639
33 MLH1 NM_000249.3(MLH1):c.955G>A (p.Glu319Lys)SNV Conflicting interpretations of pathogenicity 90452 rs63750796 3:37061871-37061871 3:37020380-37020380
34 MSH2 NM_000251.2(MSH2):c.1045C>G (p.Pro349Ala)SNV Conflicting interpretations of pathogenicity 90512 rs267607939 2:47643537-47643537 2:47416398-47416398
35 MSH2 NM_000251.2(MSH2):c.1217G>A (p.Arg406Gln)SNV Conflicting interpretations of pathogenicity 90569 rs146567853 2:47657021-47657021 2:47429882-47429882
36 MSH2 NM_000251.2(MSH2):c.128A>G (p.Tyr43Cys)SNV Conflicting interpretations of pathogenicity 90619 rs17217723 2:47630458-47630458 2:47403319-47403319
37 MSH2 NM_000251.2(MSH2):c.2009C>T (p.Pro670Leu)SNV Uncertain significance 90855 rs41294982 2:47703509-47703509 2:47476370-47476370
38 MLH1 NM_000249.3(MLH1):c.1730C>T (p.Ser577Leu)SNV Uncertain significance 127619 rs56185292 3:37083821-37083821 3:37042330-37042330
39 MSH2 NM_000251.2(MSH2):c.1238A>C (p.Gln413Pro)SNV Uncertain significance 127629 rs587779962 2:47657042-47657042 2:47429903-47429903
40 MLH1 NM_000249.3(MLH1):c.1154G>A (p.Arg385His)SNV Uncertain significance 140759 rs63750430 3:37067243-37067243 3:37025752-37025752
41 MLH1 NM_000249.3(MLH1):c.226G>A (p.Val76Ile)SNV Uncertain significance 237335 rs878853788 3:37042464-37042464 3:37000973-37000973
42 MLH1 NM_000249.3(MLH1):c.91G>A (p.Ala31Thr)SNV Uncertain significance 420921 rs749671520 3:37035129-37035129 3:36993638-36993638
43 MLH1 NM_000249.3(MLH1):c.821A>G (p.Lys274Arg)SNV Uncertain significance 418300 rs769958855 3:37059027-37059027 3:37017536-37017536
44 MLH1 NM_000249.3(MLH1):c.844G>A (p.Ala282Thr)SNV Uncertain significance 455457 rs774689817 3:37059050-37059050 3:37017559-37017559
45 MSH2 NM_000251.2(MSH2):c.464T>C (p.Val155Ala)SNV Uncertain significance 483732 rs876658188 2:47637330-47637330 2:47410191-47410191
46 MLH1 NM_000249.3(MLH1):c.1896+5G>ASNV Uncertain significance 483545 rs759870594 3:37089179-37089179 3:37047688-37047688
47 MLH1 NM_000249.3(MLH1):c.299G>A (p.Arg100Gln)SNV Uncertain significance 90132 rs63750266 3:37042537-37042537 3:37001046-37001046
48 MLH1 NM_000249.3(MLH1):c.347C>A (p.Thr116Lys)SNV Uncertain significance 90176 rs63750465 3:37045932-37045932 3:37004441-37004441
49 MLH1 NM_000249.3(MLH1):c.1153C>T (p.Arg385Cys)SNV Uncertain significance 89653 rs63750760 3:37067242-37067242 3:37025751-37025751
50 MLH1 NM_000249.3(MLH1):c.2042C>T (p.Ala681Val)SNV Uncertain significance 90011 rs63750864 3:37090447-37090447 3:37048956-37048956
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 13)
# 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
TCR Signaling (Qiagen) 63
Show member pathways
 12.7 TP53 MSH6 MSH3 MSH2 MLH1
3
Endometrial cancer 36
Show member pathways
 12.65 TP53 MSH6 MSH3 MSH2 MLH1
4
Pathways in cancer 36
12.52 TP53 MSH6 MSH3 MSH2 MLH1 IFNA2
5
DNA Damage 4
12.24 TP53 MUTYH MSH6 MSH2 MLH1
6
Colorectal Cancer Metastasis 63
11.87 TP53 MSH6 MSH3 MSH2 MLH1
7
Direct p53 effectors 1
11.83 TP53 PMS2 MSH2 MLH1
8
BRCA1 Pathway 63
Show member pathways
 11.59 TP53 MSH6 MSH2
9
Integrated Cancer Pathway 1
11.3 TP53 MSH6 MSH2
10
Platinum drug resistance 36
11.22 TP53 MSH6 MSH3 MSH2 MLH1
11
Doxorubicin Pathway, Pharmacokinetics 60
Show member pathways
 11.21 TP53 MSH2 MLH1
12
Mismatch repair 65 1 36
Show member pathways
 11.15 PMS2 PMS1 MSH6 MSH3 MSH2 MLH3
13
Platinum Pathway, Pharmacokinetics/Pharmacodynamics 60
10.92 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 MutSalpha complex GO:0032301 9.32 MSH6 MSH2
3 MutSbeta complex GO:0032302 9.26 MSH3 MSH2
4 mismatch repair complex GO:0032300 9.17 PMS2 PMS1 MSH6 MSH3 MSH2 MLH3
5 chiasma GO:0005712 9.16 MLH3 MLH1
6 MutLalpha complex GO:0032389 9.13 PMS2 PMS1 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 response to drug GO:0042493 9.88 TP53 PMS2 PMS1 PLIN2
2 DNA repair GO:0006281 9.86 PMS2 PMS1 MUTYH MSH6 MSH3 MSH2
3 cellular response to DNA damage stimulus GO:0006974 9.81 TP53 PMS2 PMS1 MUTYH MSH6 MSH3
4 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.72 MSH6 MSH2 MLH1
5 reciprocal meiotic recombination GO:0007131 9.69 MSH3 MLH3 MLH1
6 determination of adult lifespan GO:0008340 9.65 TP53 MSH6 MSH2
7 negative regulation of DNA recombination GO:0045910 9.63 MSH6 MSH3 MSH2
8 somatic hypermutation of immunoglobulin genes GO:0016446 9.62 PMS2 MSH6 MSH2 MLH1
9 isotype switching GO:0045190 9.61 MSH6 MSH2 MLH1
10 positive regulation of helicase activity GO:0051096 9.58 MSH6 MSH3 MSH2
11 response to UV-B GO:0010224 9.57 TP53 MSH2
12 positive regulation of isotype switching to IgG isotypes GO:0048304 9.56 MSH2 MLH1
13 positive regulation of isotype switching to IgA isotypes GO:0048298 9.54 MSH2 MLH1
14 maintenance of DNA repeat elements GO:0043570 9.54 MSH6 MSH3 MSH2
15 meiotic mismatch repair GO:0000710 9.52 MSH6 MSH3
16 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.49 MSH2 MLH1
17 somatic recombination of immunoglobulin gene segments GO:0016447 9.26 MSH6 MSH3 MSH2 MLH1
18 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 four-way junction DNA binding GO:0000400 9.57 MSH6 MSH2
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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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