MRTES
MCID: MRT001
MIFTS: 59

Muir-Torre Syndrome (MRTES) malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Gastrointestinal diseases, Skin diseases, Cancer diseases

Aliases & Classifications for Muir-Torre Syndrome

Aliases & Descriptions for Muir-Torre Syndrome:

Name: Muir-Torre Syndrome 54 12 50 56 66 29 13 52 42 14
Keratoacanthoma 50 69
Cutaneous Sebaceous Neoplasms and Keratoacanthomas Multiple with Gastrointestinal and Other Carcinomas 50
Multiple Keratoacanthoma, Muir-Torre Type 56
Torre-Muir Syndrome 69
Mrtes 66
Mts 66

Characteristics:

Orphanet epidemiological data:

56
muir-torre syndrome
Inheritance: Autosomal dominant; Age of onset: Adult;

HPO:

32
muir-torre syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 158320
Disease Ontology 12 DOID:0050465
MeSH 42 D055653
NCIt 47 C84905
SNOMED-CT 64 403824007
Orphanet 56 ORPHA587
MESH via Orphanet 43 D055653
UMLS via Orphanet 70 C1321489
ICD10 via Orphanet 34 L72.8
MedGen 40 C1321489
UMLS 69 C1321489

Summaries for Muir-Torre Syndrome

NIH Rare Diseases : 50 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. last updated: 6/11/2015

MalaCards based summary : Muir-Torre Syndrome, also known as keratoacanthoma, is related to colorectal cancer and mlh1-related muir-torre syndrome, and has symptoms including colon cancer, breast carcinoma and adenoma sebaceum. 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 DNA Damage. The drugs Dabrafenib and Trametinib have been mentioned in the context of this disorder. Affiliated tissues include skin, colon and breast, and related phenotypes are Decreased viability and neoplasm

UniProtKB/Swiss-Prot : 66 Muir-Torre syndrome: Rare autosomal dominant disorder characterized by sebaceous neoplasms and visceral malignancy.

Wikipedia : 71 Muir–Torre syndrome (MTS) is a rare hereditary, autosomal dominant cancer syndrome that is thought to... more...

Description from OMIM: 158320

Related Diseases for Muir-Torre Syndrome

Diseases in the Muir-Torre Syndrome family:

Mlh1-Related Muir-Torre Syndrome Msh2-Related Muir-Torre Syndrome

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

(show top 50) (show all 100)
id Related Disease Score Top Affiliating Genes
1 colorectal cancer 29.5 IFNA2 MLH1 MSH2 MSH6 MUTYH PMS1
2 mlh1-related muir-torre syndrome 12.3
3 msh2-related muir-torre syndrome 12.2
4 mt-cyb-related recurrent myoglobinuria 11.7
5 melas, mt-tf-related 11.7
6 melas, mt-th-related 11.7
7 melas, mt-tk-related 11.7
8 melas, mt-tq-related 11.7
9 mt-tt related parkinson disease susceptibility 11.7
10 basal cell carcinoma 1 11.2
11 duodenum cancer 11.2
12 colorectal cancer, hereditary nonpolyposis, type 1 11.2
13 may-thurner syndrome 11.1
14 diabetes and deafness, maternally inherited 10.9
15 mohr-tranebjaerg syndrome 10.9
16 myoclonic epilepsy associated with ragged-red fibers 10.8
17 joubert syndrome 14 10.8
18 joubert syndrome 6 10.8
19 joubert syndrome 2 10.8
20 acrocallosal syndrome 10.8
21 chondrodysplasia punctata, tibia-metacarpal type 10.7
22 alzheimer disease mitochondrial 10.7
23 adenoma 10.4
24 adenocarcinoma 10.4
25 sebaceous adenoma 10.4
26 keratoacanthoma 10.3
27 skin melanoma 10.2 MLH1 MSH2
28 glioblastoma 10.2
29 glioblastoma multiforme 10.2
30 lynch syndrome 10.2
31 aorta atresia 10.2 MLH1 MSH2
32 htr2a-related altered drug metabolism 10.2 MLH1 MUTYH
33 cask-related disorders 10.2 MSH6 PMS2
34 fibrolamellar carcinoma 10.2 MLH1 MSH2
35 hereditary sensory and autonomic neuropathy with deafness and global delay 10.2 MLH1 MUTYH
36 trypanosomiasis 10.2 MLH1 MSH6
37 factor xiii deficiency 10.2 MSH2 PMS1
38 neurocutaneous melanosis, somatic 10.1 MLH1 MSH2
39 benign fibrous mesothelioma 10.1 MLH1 MSH2 MSH6
40 neuroretinitis 10.1 MLH1 MSH2 MSH6
41 skin papilloma 10.1 MLH1 MSH2 MSH6
42 familial hypopituitarism 10.1 MLH1 MSH2 MUTYH
43 transitional cell carcinoma 10.1
44 acanthoma 10.1
45 autoimmune autonomic ganglionopathy 10.1 MSH2 MSH6 MUTYH
46 ideomotor apraxia 10.1 MLH1 MSH2 MUTYH
47 bacteremia 10.1 MSH6 PMS2
48 cardiomyopathy, dilated, 1r 10.1 MSH2 MSH6
49 trachea squamous cell carcinoma 10.1 MLH1 MSH2 MSH6
50 bardet-biedl syndrome 10.1 MLH1 MSH2 MSH6

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



Diseases related to Muir-Torre Syndrome

Symptoms & Phenotypes for Muir-Torre Syndrome

Symptoms by clinical synopsis from OMIM:

158320

Clinical features from OMIM:

158320

Human phenotypes related to Muir-Torre Syndrome:

56 32 (show all 18)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 colon cancer 56 32 Frequent (79-30%) HP:0003003
2 breast carcinoma 56 32 Occasional (29-5%) HP:0003002
3 adenoma sebaceum 56 32 Very frequent (99-80%) HP:0009720
4 endometrial carcinoma 56 32 Occasional (29-5%) HP:0012114
5 neoplasm of the liver 56 32 Occasional (29-5%) HP:0002896
6 hematological neoplasm 56 32 Occasional (29-5%) HP:0004377
7 neoplasm of the stomach 56 32 Frequent (79-30%) HP:0006753
8 malignant genitourinary tract tumor 56 32 Occasional (29-5%) HP:0006758
9 renal neoplasm 56 32 Occasional (29-5%) HP:0009726
10 laryngeal carcinoma 56 32 Occasional (29-5%) HP:0012118
11 salivary gland neoplasm 56 32 Occasional (29-5%) HP:0100684
12 neoplasm of the skin 56 Very frequent (99-80%)
13 basal cell carcinoma 32 HP:0002671
14 benign gastrointestinal tract tumors 32 HP:0006719
15 colonic diverticula 32 HP:0002253
16 duodenal adenocarcinoma 32 HP:0006771
17 benign genitourinary tract neoplasm 32 HP:0006778
18 sebaceous gland carcinoma 32 HP:0030410

UMLS symptoms related to Muir-Torre Syndrome:


exanthema, pruritus

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.56 MSH5 PMS1
2 Decreased viability GR00221-A-2 9.56 PMS1
3 Decreased viability GR00221-A-3 9.56 MSH5
4 Decreased viability GR00221-A-4 9.56 MSH5
5 Decreased viability GR00301-A 9.56 MSH2 MSH5 PMS1
6 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.17 MLH1 MSH2 MSH5 MSH6 MUTYH PMS1

MGI Mouse Phenotypes related to Muir-Torre Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 9.1 MLH1 MSH2 MSH6 MUTYH PMS1 PMS2

Drugs & Therapeutics for Muir-Torre Syndrome

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

(show all 19)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dabrafenib Approved Phase 2 44462760 44516822
2
Trametinib Approved Phase 2 871700-17-3 11707110
3
nivolumab Approved Phase 2 946414-94-4
4 Protein Kinase Inhibitors Phase 2
5 Immunoglobulins Phase 2
6 Antibodies, Monoclonal Phase 2
7 Antibodies Phase 2
8
Sorafenib Approved, Investigational 284461-73-0 216239 406563
9
Niacin Approved, Investigational, Nutraceutical 59-67-6 938
10
Nicotinamide Approved, Nutraceutical 98-92-0 936
11
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
12 Nicotinic Acids
13 Trace Elements
14 Vitamin B Complex
15 Vitamins
16 Micronutrients
17 Folate Nutraceutical
18 Vitamin B3 Nutraceutical
19 Vitamin B9 Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase
1 Phase II Biomarker Study Comparing the Combination of BRAF Inhibitor Dabrafenib With MEK Inhibitor Trametinib Versus the Combination After Monotherapy With Dabrafenib or Trametinib Recruiting NCT02314143 Phase 2
2 Talimogene Laherparepvec and Nivolumab in Treating Patients With Refractory Lymphomas or Advanced or Refractory Non-melanoma Skin Cancers Not yet recruiting NCT02978625 Phase 2
3 A Pilot Study of Trientine With Vemurafenib for the Treatment BRAF Mutated Metastatic Melanoma Withdrawn NCT02068079 Phase 1
4 Prospective, Non-interventional, Post-authorization Safety Study That Includes All Patients Diagnosed as Unresectable Differentiated Thyroid Carcinoma and Treated With Sorafenib Recruiting NCT02185560
5 Tolerance of Targeted Therapy Used in Metastatic Melanoma in Patients Aged Over 65 and 75-year-old Recruiting NCT03155217

Search NIH Clinical Center for Muir-Torre Syndrome

Cochrane evidence based reviews: muir-torre syndrome

Genetic Tests for Muir-Torre Syndrome

Genetic tests related to Muir-Torre Syndrome:

id Genetic test Affiliating Genes
1 Muir-Torré Syndrome 29

Anatomical Context for Muir-Torre Syndrome

MalaCards organs/tissues related to Muir-Torre Syndrome:

39
Skin, Colon, Breast, Liver, Eye, Salivary Gland, Cervix

Publications for Muir-Torre Syndrome

Articles related to Muir-Torre Syndrome:

(show top 50) (show all 196)
id Title Authors Year
1
A case report of Muir-Torre syndrome in a woman with breast cancer and MSI-Low skin squamous cell carcinoma. ( 28507641 )
2017
2
Muir-Torre syndrome: multiple sebaceous neoplasms and visceral malignancy manifesting after cardiac transplantation and iatrogenic immunosuppression. ( 27868185 )
2017
3
MSH6, Past and Present and Muir-Torre Syndrome-Connecting the Dots. ( 28323777 )
2017
4
Muir-Torre syndrome caused by exonic deletion of MLH1 due to homologous recombination. ( 28120777 )
2017
5
Importance of universal mismatch repair protein immunohistochemistry in patients with sebaceous neoplasia as an initial screening tool for Muir-Torre syndrome. ( 26826402 )
2016
6
Generational Expression of Muir-Torre Syndrome in a Canadian Family. ( 27822395 )
2016
7
Aggressive Extraocular Sebaceous Carcinoma of the Scalp Involving the Brain in a Patient With Muir-Torre Syndrome. ( 26779764 )
2016
8
Muir-Torre syndrome (MTS): An update and approach to diagnosis and management. ( 26892655 )
2016
9
Muir-Torre Syndrome Presenting as Sebaceous Adenocarcinoma and Invasive MSH6-Positive Colorectal Adenocarcinoma. ( 26933426 )
2016
10
Role of microsatellite instability, immunohistochemistry and mismatch repair germline aberrations in immunosuppressed transplant patients: a phenocopy dilemma in Muir-Torre syndrome. ( 27016151 )
2016
11
Urothelial Carcinoma Recurrence in an Ileal Neobladder Nine Years after Primary Surgery with Muir-Torre Syndrome. ( 27123355 )
2016
12
Sebaceous adenomas in the absence of Muir-Torre syndrome. ( 27769341 )
2016
13
Cutaneous Sebaceous Lesions in a Patient With MUTYH-Associated Polyposis Mimicking Muir-Torre Syndrome. ( 27870730 )
2016
14
Universal immunohistochemical screening of sebaceous neoplasms for Muir-Torre syndrome: Putting the cart before the horse? ( 27745640 )
2016
15
Muir-Torre Syndrome: A Case Associated with an Infrequent Gene Mutation. ( 26962393 )
2016
16
Sebaceous adenomas of the eyelid and Muir-Torre Syndrome. ( 25595178 )
2015
17
Muir-Torre syndrome. ( 26527831 )
2015
18
Neuromalignancy complicating the Muir-Torre syndrome. ( 26076933 )
2015
19
Parotid Sebaceous Carcinoma in Patient with Muir Torre Syndrome, Caused by MSH2 Mutation. ( 26577210 )
2015
20
Diagnostic error: what Muir-Torre syndrome has taught us. ( 25795746 )
2015
21
Somatic MMR Gene Mutations as a Cause for MSI-H Sebaceous Neoplasms in Muir-Torre Syndrome-Like Patients. ( 25504677 )
2015
22
Muir-Torre Syndrome Masquerading as Chalazion. ( 26352527 )
2015
23
The role of immunohistochemistry in the Muir-Torre Syndrome. ( 26312706 )
2015
24
Cystic sebaceous tumour with no evidence of Muir-Torre syndrome. ( 25753622 )
2015
25
Muir-Torre Syndrome and Central Nervous System Malignancy: Highlighting an Uncommon Association. ( 26035046 )
2015
26
Glioblastoma multiforme as initial internal malignancy in Muir-Torre syndrome (MTS). ( 27051787 )
2015
27
Muir-Torre Syndrome and founder mismatch repair gene mutations: A long gone historical genetic challenge. ( 26143115 )
2015
28
FDG-PET-positive lower-extremity sebaceous-gland carcinoma in a patient with Muir-Torre syndrome. ( 27398125 )
2015
29
Adenocarcinoma of the cervix associated with a neuroendocrine small cell carcinoma of the cervix in the spectrum of Muir-Torre syndrome. ( 26050364 )
2015
30
Muir-Torre syndrome. ( 25427047 )
2014
31
Fordyce granules and hyperplastic mucosal sebaceous glands as distinctive stigmata in Muir-Torre syndrome patients: characterization with reflectance confocal microscopy. ( 25213213 )
2014
32
Sebaceous carcinoma of the eyelid and Muir-Torre syndrome. ( 24969841 )
2014
33
Skin lesions with Lynch syndrome could represent Muir-Torre syndrome. ( 24793211 )
2014
34
Synchronous gastric and sebaceous cancers, a rare manifestation of MLH1-related Muir-Torre syndrome. ( 25197397 )
2014
35
Muir-Torre syndrome: case report and molecular characterization. ( 24474082 )
2014
36
Sebaceous hyperplasia of the vulva: a series of cases reporting no association with the Muir-Torre syndrome. ( 24901406 )
2014
37
Muir-Torre syndrome or phenocopy? The value of the immunohistochemical expression of mismatch repair proteins in sebaceous tumors of immunocompromised patients. ( 24969397 )
2014
38
The Muir-Torre syndrome: a typical case of misdiagnosis and consequent worsened prognosis. ( 25213586 )
2014
39
Muir-Torre syndrome. ( 25035371 )
2014
40
Microsatellite and genetic instability in patients with Muir-Torre syndrome. ( 23891449 )
2013
41
Borderline sebaceous neoplasm in a renal transplant patient without Muir-Torre syndrome. ( 23174034 )
2013
42
Reticulated acanthoma with sebaceous differentiation: another sebaceous neoplasm associated with Muir-Torre syndrome? ( 23651324 )
2013
43
Screening for Muir-Torre syndrome using mismatch repair protein immunohistochemistry of sebaceous neoplasms. ( 23212176 )
2013
44
Microsatellite instability and mismatch repair protein expression in sebaceous tumors, keratocanthoma, and basal cell carcinomas with sebaceous differentiation in Muir-Torre syndrome. ( 23394915 )
2013
45
A case of Muir-Torre syndrome with multiple cancers of bilateral eyelids and breast. ( 23730114 )
2013
46
Limitations of dermatopathology: Muir-Torre syndrome as an example. ( 23617078 )
2013
47
Muir-Torre Syndrome in a Middle-Aged Chinese Patient with Sebaceous Carcinoma of the Eyelid. ( 24117411 )
2013
48
Retroperitoneal undifferentiated pleomorphic sarcoma having microsatellite instability associated with Muir-Torre syndrome: case report and review of literature. ( 23672746 )
2013
49
Clinical, dermoscopic and reflectance confocal microscopy features of sebaceous neoplasms in Muir-Torre syndrome. ( 22471909 )
2013
50
Muir-Torre syndrome-associated pleomorphic liposarcoma arising in a previous radiation field. ( 23299928 )
2013

Variations for Muir-Torre Syndrome

ClinVar genetic disease variations for Muir-Torre Syndrome:

6
id 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.269_290dup22 (p.Tyr98Argfs) duplication Pathogenic rs587776529 GRCh37 Chromosome 2, 47635597: 47635618
3 MSH2 MSH2, 32-KB DEL, EX1-6 deletion Pathogenic
4 MLH1 MLH1, 370-BP DEL deletion Pathogenic
5 MLH1 NM_000249.3(MLH1): c.1943C> T (p.Pro648Leu) single nucleotide variant Pathogenic rs63750610 GRCh37 Chromosome 3, 37090054: 37090054

Expression for Muir-Torre Syndrome

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

Pathways for Muir-Torre Syndrome

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

(show all 12)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.77 MLH1 MSH2 MSH6 MUTYH PMS2
2 12.02 MLH1 MSH2 MSH6 MUTYH
3
Show member pathways
11.99 MLH1 MSH2 MSH6
4 11.8 MLH1 MSH2 MSH6
5 11.62 MLH1 MSH2 PMS2
6 11.2 MLH1 MSH2 MSH6
7 11.17 MSH2 MSH6
8
Show member pathways
11.14 MLH1 MSH2
9
Show member pathways
11.08 MLH1 MSH2
10
Show member pathways
11.01 MLH1 MSH2 MSH6 PMS1 PMS2
11 10.94 MLH1 MSH5
12 10.72 MLH1 MSH2 MSH6 PMS2

GO Terms for Muir-Torre Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 mismatch repair complex GO:0032300 9.16 MSH2 PMS2
2 MutSalpha complex GO:0032301 8.96 MSH2 MSH6
3 MutLalpha complex GO:0032389 8.8 MLH1 PMS1 PMS2

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

(show all 14)
id 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 DNA repair GO:0006281 9.73 MLH1 MSH2 MSH6 MUTYH PMS1 PMS2
3 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.61 MLH1 MSH2 MSH6
4 determination of adult lifespan GO:0008340 9.54 MSH2 MSH6
5 isotype switching GO:0045190 9.54 MLH1 MSH2 MSH6
6 positive regulation of isotype switching to IgG isotypes GO:0048304 9.52 MLH1 MSH2
7 negative regulation of DNA recombination GO:0045910 9.51 MSH2 MSH6
8 positive regulation of helicase activity GO:0051096 9.49 MSH2 MSH6
9 maintenance of DNA repeat elements GO:0043570 9.48 MSH2 MSH6
10 positive regulation of isotype switching to IgA isotypes GO:0048298 9.46 MLH1 MSH2
11 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.4 MLH1 MSH2
12 somatic recombination of immunoglobulin gene segments GO:0016447 9.33 MLH1 MSH2 MSH6
13 somatic hypermutation of immunoglobulin genes GO:0016446 9.26 MLH1 MSH2 MSH6 PMS2
14 mismatch repair GO:0006298 9.17 MLH1 MSH2 MSH5 MSH6 MUTYH PMS1

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

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.95 MLH1 MSH2 MSH5 MSH6 PMS1 PMS2
2 ATPase activity GO:0016887 9.72 MLH1 MSH2 MSH6 PMS1 PMS2
3 single-stranded DNA binding GO:0003697 9.67 MLH1 MSH2 PMS1 PMS2
4 damaged DNA binding GO:0003684 9.54 MSH2 MSH6
5 ADP binding GO:0043531 9.51 MSH2 MSH6
6 four-way junction DNA binding GO:0000400 9.49 MSH2 MSH6
7 oxidized purine DNA binding GO:0032357 9.46 MSH2 MSH6
8 single guanine insertion binding GO:0032142 9.43 MSH2 MSH6
9 MutLalpha complex binding GO:0032405 9.43 MSH2 MSH6 MUTYH
10 single thymine insertion binding GO:0032143 9.4 MSH2 MSH6
11 MutSalpha complex binding GO:0032407 9.33 MLH1 MUTYH PMS2
12 guanine/thymine mispair binding GO:0032137 9.13 MLH1 MSH2 MSH6
13 mismatched DNA binding GO:0030983 9.1 MLH1 MSH2 MSH5 MSH6 PMS1 PMS2
14 DNA binding GO:0003677 10 MSH2 MSH5 MSH6 MUTYH PMS1 PMS2

Sources for Muir-Torre Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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