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MRTES
MCID: MRT001
MIFTS: 55

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 75 13 55 44 15 40
Muir-Torré Syndrome 29 6
Keratoacanthoma 53 73
Mrtes 57 75
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 73
Mts 75

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:

OMIM 57 158320
Disease Ontology 12 DOID:0050465
MeSH 44 D055653
NCIt 50 C84905
Orphanet 59 ORPHA587
MESH via Orphanet 45 D055653
UMLS via Orphanet 74 C1321489
ICD10 via Orphanet 34 L72.8
MedGen 42 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 lynch syndrome i and adenoma, 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 Mycophenolic acid have been mentioned in the context of this disorder. Affiliated tissues include skin, colon and breast, and related phenotypes are colon cancer and breast carcinoma

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 : 75 Muir-Torre syndrome: Rare autosomal dominant disorder characterized by sebaceous neoplasms and visceral malignancy.

Description 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 279)
# Related Disease Score Top Affiliating Genes
1 lynch syndrome i 31.7 PMS2 PMS1 MSH6 MSH2 MLH1
2 adenoma 31.0 MUTYH MSH2 MLH1
3 sebaceous adenoma 30.6 PMS2 MSH6 MSH2 MLH1
4 keratoacanthoma 30.4 MSH2 MLH1
5 colorectal adenocarcinoma 30.4 MSH6 MSH2 MLH1
6 attenuated familial adenomatous polyposis 30.4 MUTYH MSH6 MSH2
7 familial adenomatous polyposis 30.2 MUTYH MSH6 MSH2 MLH1
8 lynch syndrome 30.1 PMS2 PMS1 MUTYH MSH6 MSH2 MLH1
9 mismatch repair cancer syndrome 30.0 PMS2 PMS1 MSH6 MSH2 MLH1
10 skin benign neoplasm 29.7 MSH6 MSH2 MLH1
11 colorectal adenoma 29.7 MUTYH MSH2 MLH1
12 sebaceous adenocarcinoma 29.5 PMS2 PMS1 PLIN2 MSH6 MSH2 MLH1
13 colorectal cancer 29.5 PMS2 PMS1 MUTYH MSH6 MSH2 MLH1
14 brain cancer 29.5 PMS2 MSH6 MSH2
15 ovarian cancer 29.4 PMS1 MSH6 MSH2 MLH1
16 generalized eruptive keratoacanthoma 12.3
17 familial keratoacanthoma 12.2
18 vulvar keratoacanthoma-like carcinoma 12.0
19 multiple self-healing squamous epithelioma 11.9
20 mohr-tranebjaerg syndrome 11.9
21 diabetes and deafness, maternally inherited 11.5
22 basal cell carcinoma 1 11.5
23 palmoplantar carcinoma, multiple self-healing 11.3
24 chondrodysplasia punctata, tibia-metacarpal type 11.0
25 alzheimer disease mitochondrial 11.0
26 myoglobinuria, recurrent 11.0
27 acrocallosal syndrome 11.0
28 cardiomyopathy, infantile histiocytoid 11.0
29 myoclonic epilepsy associated with ragged-red fibers 11.0
30 joubert syndrome 2 11.0
31 joubert syndrome 6 11.0
32 joubert syndrome 14 11.0
33 joubert syndrome 32 11.0
34 adenocarcinoma 10.6
35 glioma susceptibility 1 10.4
36 glioblastoma multiforme 10.4
37 glioblastoma 10.4
38 sarcoma 10.3
39 acanthoma 10.3
40 transitional cell carcinoma 10.3
41 melanoma 10.3
42 basal cell carcinoma 10.3
43 lichen planus 10.2
44 lupus erythematosus 10.2
45 colorectal cancer, hereditary nonpolyposis, type 7 10.2 MSH2 MLH1
46 lower lip cancer 10.2 MSH2 MLH1
47 small cell cancer of the lung 10.2
48 lung cancer 10.2
49 mycosis fungoides 10.2
50 alpha-1-antitrypsin deficiency 10.2

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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Symptoms via clinical synopsis from OMIM:

57
Neoplasia:
colon cancer
laryngeal carcinoma
basal cell 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

Human phenotypes related to Muir-Torre Syndrome:

59 32 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 colon cancer 59 32 frequent (33%) Frequent (79-30%) HP:0003003
2 breast carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0003002
3 adenoma sebaceum 59 32 hallmark (90%) Very frequent (99-80%) HP:0009720
4 endometrial carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0012114
5 neoplasm of the liver 59 32 occasional (7.5%) Occasional (29-5%) HP:0002896
6 hematological neoplasm 59 32 occasional (7.5%) Occasional (29-5%) HP:0004377
7 neoplasm of the stomach 59 32 frequent (33%) Frequent (79-30%) HP:0006753
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 benign gastrointestinal tract tumors 32 HP:0006719
16 carcinoma 32 HP:0030731
17 duodenal adenocarcinoma 32 HP:0006771
18 benign genitourinary tract neoplasm 32 HP:0006778
19 sebaceous gland carcinoma 32 HP:0030410

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 42)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
2
Mycophenolic acid Approved Phase 4 24280-93-1 446541
3
Azathioprine Approved Phase 4 446-86-6 2265
4
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492
5
Everolimus Approved Phase 4 159351-69-6 6442177
6
Sirolimus Approved, Investigational Phase 4 53123-88-9 46835353 6436030 5284616
7
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
8 Immunologic Factors Phase 4,Phase 2
9 Cyclosporins Phase 4
10 Anesthetics, Local Phase 4
11 Anesthetics Phase 4
12 Peripheral Nervous System Agents Phase 4
13 Diuretics, Potassium Sparing Phase 4
14 Central Nervous System Depressants Phase 4
15 Sodium Channel Blockers Phase 4
16 Anti-Arrhythmia Agents Phase 4
17 Anti-Infective Agents Phase 4
18 Antibiotics, Antitubercular Phase 4
19 Antifungal Agents Phase 4
20 Calcineurin Inhibitors Phase 4
21 Immunosuppressive Agents Phase 4
22 Anti-Bacterial Agents Phase 4
23
Dabrafenib Approved, Investigational Phase 3,Phase 2 1195765-45-7 44462760 44516822
24
Trametinib Approved Phase 3,Phase 2 871700-17-3 11707110
25 Protein Kinase Inhibitors Phase 3,Phase 2
26
Nivolumab Approved Phase 2 946414-94-4
27 Antibodies, Monoclonal Phase 2
28 Antibodies Phase 2
29 Immunoglobulins Phase 2
30
Nicotinamide Approved, Investigational 98-92-0 936
31
Sorafenib Approved, Investigational 284461-73-0 216239 406563
32
Methotrexate Approved 59-05-2, 1959-05-2 126941
33
Niacin Approved, Investigational, Nutraceutical 59-67-6 938
34
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
35 Vitamin B3
36 Nicotinic Acids
37 Vitamins
38 Vitamin B9
39 Trace Elements
40 Micronutrients
41 Vitamin B Complex
42 Folate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pain Outcomes Following Intralesional Corticosteroid Injections Not yet recruiting NCT03630198 Phase 4 Corticosteroid with lidocaine;Corticosteroid with normal saline
2 Prevention of Skin Cancer in High Risk Patients After Conversion to a Sirolimus-based Immunosuppressive Protocol Terminated NCT01797315 Phase 4 Sirolimus
3 A Study Comparing Trametinib and Dabrafenib Combination Therapy to Dabrafenib Monotherapy in Subjects With BRAF-mutant Melanoma Active, not recruiting NCT01584648 Phase 3 dabrafenib;dabrafenib plus trametinib placebo;Trametinib
4 Phase II Biomarker Study Comparing the Combination of BRAF Inhibitor Dabrafenib With MEK Inhibitor Trametinib Versus the Combination After Monotherapy With Dabrafenib or Trametinib Completed NCT02314143 Phase 2 Dabrafenib;Trametinib
5 Study of TVEC 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
6 Talimogene Laherparepvec and Nivolumab in Treating Patients With Refractory Lymphomas or Advanced or Refractory Non-melanoma Skin Cancers Recruiting NCT02978625 Phase 2
7 A Pilot Study of Trientine With Vemurafenib for the Treatment BRAF Mutated Metastatic Melanoma Withdrawn NCT02068079 Phase 1 Vemurafenib and Trientine
8 Tolerance of Targeted Therapy Used in Metastatic Melanoma in Patients Aged Over 65 and 75-year-old Recruiting NCT03155217
9 Prospective, Non-interventional, Post-authorization Safety Study That Includes All Patients Diagnosed as Unresectable Differentiated Thyroid Carcinoma and Treated With Sorafenib Recruiting NCT02185560 Sorafenib (Nexavar, BAY43-9006)
10 Assessing the Long Term Effectiveness and Safety of Biotherapies in the Treatment of Cutaneous Psoriasis Recruiting NCT01617018

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:

41
Skin, Colon, Breast, Liver, Cervix, Lung, Brain
Sources

Publications for Muir-Torre Syndrome

About this section

Articles related to Muir-Torre Syndrome:

(show top 50) (show all 214)
# Title Authors Year
1
Postradiation Histiocytic Sarcoma in the Setting of Muir-Torre Syndrome. ( 29850341 )
2018
2
Muir-Torre syndrome. ( 29789146 )
2018
3
Sebaceous Neoplasms With Rippled, Labyrinthine/Sinusoidal, Petaloid, and Carcinoid-Like Patterns: A Study of 57 Cases Validating Their Occurrence as a Morphological Spectrum and Showing No Significant Association With Muir-Torre Syndrome or DNA Mismatch Repair Protein Deficiency. ( 29924747 )
2018
4
Muir-Torre Syndrome: A Case Report in a Woman Without Personal Cancer History. ( 29933315 )
2018
5
Impact of Muir-Torre Syndrome on Survival in Patients With Sebaceous Carcinoma: A SEER Population-Based Study. ( 29578884 )
2018
6
Therapy-associated myelodysplastic syndrome with monosomy 7 arising in a Muir-Torre Syndrome patient carrying SETBP1 mutation. ( 29435294 )
2018
7
Muir-Torre Syndrome With a Frame-shift Mutation in the MSH2 Gene: A Rare Case Report and Literature Review. ( 30516620 )
2018
8
Muir-Torre syndrome: multiple sebaceous neoplasms and visceral malignancy manifesting after cardiac transplantation and iatrogenic immunosuppression. ( 27868185 )
2017
9
Review of the current medical literature and assessment of current utilization patterns regarding mismatch repair protein immunohistochemistry in cutaneous Muir-Torre syndrome-associated neoplasms. ( 28749576 )
2017
10
MSH6, Past and Present and Muir-Torre Syndrome-Connecting the Dots. ( 28323777 )
2017
11
Lynch Syndrome and Muir-Torre Syndrome: An update and review on the genetics, epidemiology, and management of two related disorders. ( 29447627 )
2017
12
Usefulness of PET/CT for early detection of internal malignancies in patients with Muir-Torre syndrome: report of two cases. ( 28537014 )
2017
13
A case report of Muir-Torre syndrome in a woman with breast cancer and MSI-Low skin squamous cell carcinoma. ( 28507641 )
2017
14
Analysis of Sebaceous Neoplasms for DNA Mismatch Repair Proteins in Muir-Torre Syndrome. ( 28859734 )
2017
15
A possible association between mycosis fungoides and Muir-Torre syndrome: Two disorders with microsatellite instability. ( 28761921 )
2017
16
Muir-Torre syndrome caused by exonic deletion of MLH1 due to homologous recombination. ( 28120777 )
2017
17
[Muir-Torre syndrome and Turcot syndrome]. ( 28256262 )
2017
18
Cutaneous Sebaceous Lesions in a Patient With MUTYH-Associated Polyposis Mimicking Muir-Torre Syndrome. ( 27870730 )
2016
19
Generational Expression of Muir-Torre Syndrome in a Canadian Family. ( 27822395 )
2016
20
Aggressive Extraocular Sebaceous Carcinoma of the Scalp Involving the Brain in a Patient With Muir-Torre Syndrome. ( 26779764 )
2016
21
Role of microsatellite instability, immunohistochemistry and mismatch repair germline aberrations in immunosuppressed transplant patients: a phenocopy dilemma in Muir-Torre syndrome. ( 27016151 )
2016
22
Sebaceous adenomas in the absence of Muir-Torre syndrome. ( 27769341 )
2016
23
Muir-Torre syndrome (MTS): An update and approach to diagnosis and management. ( 26892655 )
2016
24
Muir-Torre Syndrome: A Case Associated with an Infrequent Gene Mutation. ( 26962393 )
2016
25
Urothelial Carcinoma Recurrence in an Ileal Neobladder Nine Years after Primary Surgery with Muir-Torre Syndrome. ( 27123355 )
2016
26
Muir-Torre Syndrome Presenting as Sebaceous Adenocarcinoma and Invasive MSH6-Positive Colorectal Adenocarcinoma. ( 26933426 )
2016
27
Importance of universal mismatch repair protein immunohistochemistry in patients with sebaceous neoplasia as an initial screening tool for Muir-Torre syndrome. ( 26826402 )
2016
28
Universal immunohistochemical screening of sebaceous neoplasms for Muir-Torre syndrome: Putting the cart before the horse? ( 27745640 )
2016
29
Cystic sebaceous tumour with no evidence of Muir-Torre syndrome. ( 25753622 )
2016
30
Muir-Torre Syndrome Masquerading as Chalazion. ( 26352527 )
2015
31
Parotid Sebaceous Carcinoma in Patient with Muir Torre Syndrome, Caused by MSH2 Mutation. ( 26577210 )
2015
32
Muir-Torre Syndrome and Central Nervous System Malignancy: Highlighting an Uncommon Association. ( 26035046 )
2015
33
Diagnostic error: what Muir-Torre syndrome has taught us. ( 25795746 )
2015
34
Neuromalignancy complicating the Muir-Torre syndrome. ( 26076933 )
2015
35
The role of immunohistochemistry in the Muir-Torre Syndrome. ( 26312706 )
2015
36
Muir-Torre syndrome. ( 26527831 )
2015
37
Somatic MMR Gene Mutations as a Cause for MSI-H Sebaceous Neoplasms in Muir-Torre Syndrome-Like Patients. ( 25504677 )
2015
38
Glioblastoma multiforme as initial internal malignancy in Muir-Torre syndrome (MTS). ( 27051787 )
2015
39
Adenocarcinoma of the cervix associated with a neuroendocrine small cell carcinoma of the cervix in the spectrum of Muir-Torre syndrome. ( 26050364 )
2015
40
FDG-PET-positive lower-extremity sebaceous-gland carcinoma in a patient with Muir-Torre syndrome. ( 27398125 )
2015
41
Muir-Torre Syndrome and founder mismatch repair gene mutations: A long gone historical genetic challenge. ( 26143115 )
2015
42
Sebaceous adenomas of the eyelid and Muir-Torre Syndrome. ( 25595178 )
2015
43
Muir-Torre syndrome. ( 25035371 )
2014
44
Fordyce granules and hyperplastic mucosal sebaceous glands as distinctive stigmata in Muir-Torre syndrome patients: characterization with reflectance confocal microscopy. ( 25213213 )
2014
45
Muir-Torre syndrome: case report and molecular characterization. ( 24474082 )
2014
46
The Muir-Torre syndrome: a typical case of misdiagnosis and consequent worsened prognosis. ( 25213586 )
2014
47
Skin lesions with Lynch syndrome could represent Muir-Torre syndrome. ( 24793211 )
2014
48
Sebaceous carcinoma of the eyelid and Muir-Torre syndrome. ( 24969841 )
2014
49
Muir-Torre syndrome or phenocopy? The value of the immunohistochemical expression of mismatch repair proteins in sebaceous tumors of immunocompromised patients. ( 24969397 )
2014
50
Muir-Torre syndrome. ( 25427047 )
2014
Sources

Variations for Muir-Torre Syndrome

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ClinVar genetic disease variations for Muir-Torre Syndrome:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 MSH2 NM_000251.2(MSH2): c.1801C> T (p.Gln601Ter) single nucleotide variant Pathogenic rs63750047 GRCh37 Chromosome 2, 47702205: 47702205
2 MSH2 NM_000251.2(MSH2): c.1801C> T (p.Gln601Ter) single nucleotide variant Pathogenic rs63750047 GRCh38 Chromosome 2, 47475066: 47475066
3 MSH2 NM_000251.2(MSH2): c.269_290dup22 (p.Tyr98Argfs) duplication Pathogenic rs587776529 GRCh37 Chromosome 2, 47635597: 47635618
4 MSH2 NM_000251.2(MSH2): c.269_290dup22 (p.Tyr98Argfs) duplication Pathogenic rs587776529 GRCh38 Chromosome 2, 47408458: 47408479
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.1943C> T (p.Pro648Leu) single nucleotide variant Likely pathogenic rs63750610 GRCh37 Chromosome 3, 37090054: 37090054
8 MLH1 NM_000249.3(MLH1): c.1943C> T (p.Pro648Leu) single nucleotide variant Likely pathogenic rs63750610 GRCh38 Chromosome 3, 37048563: 37048563
9 MLH1 NM_000249.3(MLH1): c.1558+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs199935667 GRCh37 Chromosome 3, 37070428: 37070428
10 MLH1 NM_000249.3(MLH1): c.1558+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs199935667 GRCh38 Chromosome 3, 37028937: 37028937
11 MLH1 NM_000249.3(MLH1): c.1730C> T (p.Ser577Leu) single nucleotide variant Uncertain significance rs56185292 GRCh37 Chromosome 3, 37083821: 37083821
12 MLH1 NM_000249.3(MLH1): c.1730C> T (p.Ser577Leu) single nucleotide variant Uncertain significance rs56185292 GRCh38 Chromosome 3, 37042330: 37042330
13 MSH2 NM_000251.2(MSH2): c.1238A> C (p.Gln413Pro) single nucleotide variant Uncertain significance rs587779962 GRCh37 Chromosome 2, 47657042: 47657042
14 MSH2 NM_000251.2(MSH2): c.1238A> C (p.Gln413Pro) single nucleotide variant Uncertain significance rs587779962 GRCh38 Chromosome 2, 47429903: 47429903
15 MSH2 NM_000251.2(MSH2): c.383T> G (p.Leu128Arg) single nucleotide variant Uncertain significance rs730881768 GRCh38 Chromosome 2, 47410110: 47410110
16 MSH2 NM_000251.2(MSH2): c.383T> G (p.Leu128Arg) single nucleotide variant Uncertain significance rs730881768 GRCh37 Chromosome 2, 47637249: 47637249
17 MLH1 NM_000249.3(MLH1): c.1243G> A (p.Asp415Asn) single nucleotide variant Uncertain significance rs373767220 GRCh38 Chromosome 3, 37025841: 37025841
18 MLH1 NM_000249.3(MLH1): c.1243G> A (p.Asp415Asn) single nucleotide variant Uncertain significance rs373767220 GRCh37 Chromosome 3, 37067332: 37067332
19 MSH2 NM_000251.2(MSH2): c.376G> A (p.Gly126Ser) single nucleotide variant Uncertain significance rs767371843 GRCh37 Chromosome 2, 47637242: 47637242
20 MSH2 NM_000251.2(MSH2): c.376G> A (p.Gly126Ser) single nucleotide variant Uncertain significance rs767371843 GRCh38 Chromosome 2, 47410103: 47410103
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 MLH1 MSH2 MSH6 MUTYH PMS2
2
Pathways in cancer 37
12.45 IFNA2 MLH1 MSH2 MSH6
3
DNA Damage 4
12.03 MLH1 MSH2 MSH6 MUTYH
4
Colorectal Cancer Metastasis 64
11.8 MLH1 MSH2 MSH6
5
Direct p53 effectors 1
11.62 MLH1 MSH2 PMS2
6
DNA damage_Role of Brca1 and Brca2 in DNA repair 22
11.23 MLH1 MSH2 MSH6
7
Platinum drug resistance 37
11.2 MLH1 MSH2 MSH6
8
Integrated Cancer Pathway 1
11.17 MSH2 MSH6
9
Busulfan Pathway, Pharmacodynamics 61
Show member pathways
 11.14 MLH1 MSH2
10
Doxorubicin Pathway, Pharmacokinetics 61
Show member pathways
 11.08 MLH1 MSH2
11
Mismatch repair 37 66 1
Show member pathways
 11.01 MLH1 MSH2 MSH6 PMS1 PMS2
12
Platinum Pathway, Pharmacokinetics/Pharmacodynamics 61
10.72 MLH1 MSH2 MSH6 PMS2
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 MSH2 MSH6
2 MutLalpha complex GO:0032389 9.13 MLH1 PMS1 PMS2
3 mismatch repair complex GO:0032300 9.02 MLH1 MSH2 MSH6 PMS1 PMS2

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.8 MLH1 MSH2 MSH6 MUTYH PMS1 PMS2
2 response to drug GO:0042493 9.76 PLIN2 PMS1 PMS2
3 DNA repair GO:0006281 9.73 MLH1 MSH2 MSH6 MUTYH PMS1 PMS2
4 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.61 MLH1 MSH2 MSH6
5 interstrand cross-link repair GO:0036297 9.58 MSH2 MSH6
6 negative regulation of DNA recombination GO:0045910 9.57 MSH2 MSH6
7 determination of adult lifespan GO:0008340 9.56 MSH2 MSH6
8 positive regulation of isotype switching to IgG isotypes GO:0048304 9.55 MLH1 MSH2
9 positive regulation of helicase activity GO:0051096 9.54 MSH2 MSH6
10 isotype switching GO:0045190 9.54 MLH1 MSH2 MSH6
11 pyrimidine dimer repair GO:0006290 9.52 MSH2 MSH6
12 replication fork arrest GO:0043111 9.51 MSH2 MSH6
13 maintenance of DNA repeat elements GO:0043570 9.49 MSH2 MSH6
14 positive regulation of isotype switching to IgA isotypes GO:0048298 9.48 MLH1 MSH2
15 meiotic mismatch repair GO:0000710 9.46 MSH2 MSH6
16 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.4 MLH1 MSH2
17 somatic recombination of immunoglobulin gene segments GO:0016447 9.33 MLH1 MSH2 MSH6
18 somatic hypermutation of immunoglobulin genes GO:0016446 9.26 MLH1 MSH2 MSH6 PMS2
19 mismatch repair GO:0006298 9.1 MLH1 MSH2 MSH6 MUTYH PMS1 PMS2

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 MLH1 MSH2 MSH6 PMS1 PMS2
2 enzyme binding GO:0019899 9.78 MLH1 MSH2 MSH6 PMS1
3 ATPase activity GO:0016887 9.77 MLH1 MSH2 MSH6 PMS1 PMS2
4 single-stranded DNA binding GO:0003697 9.71 MLH1 MSH2 PMS1 PMS2
5 damaged DNA binding GO:0003684 9.55 MSH2 MSH6
6 DNA-dependent ATPase activity GO:0008094 9.52 MSH2 MSH6
7 ADP binding GO:0043531 9.51 MSH2 MSH6
8 MutLalpha complex binding GO:0032405 9.5 MSH2 MSH6 MUTYH
9 four-way junction DNA binding GO:0000400 9.49 MSH2 MSH6
10 single thymine insertion binding GO:0032143 9.46 MSH2 MSH6
11 single guanine insertion binding GO:0032142 9.43 MSH2 MSH6
12 MutSalpha complex binding GO:0032407 9.43 MLH1 MUTYH PMS2
13 oxidized purine DNA binding GO:0032357 9.33 MSH2 MSH6 MUTYH
14 guanine/thymine mispair binding GO:0032137 9.13 MLH1 MSH2 MSH6
15 mismatched DNA binding GO:0030983 9.02 MLH1 MSH2 MSH6 PMS1 PMS2
Sources

Sources for Muir-Torre Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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