MCID: MRT001
MIFTS: 58

Muir-Torre Syndrome malady

Genetic diseases, Rare diseases, Eye diseases, Gastrointestinal diseases, Skin diseases, Cancer diseases categories

Aliases & Classifications for Muir-Torre Syndrome

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 36MeSH, 67UniProtKB/Swiss-Prot, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Muir-Torre Syndrome:

Name: Muir-Torre Syndrome 49 10 11 45 47 12 51 24 36 67
Keratoacanthoma 45 65
Cutaneous Sebaceous Neoplasms and Keratoacanthomas Multiple with Gastrointestinal and Other Carcinomas 45
Multiple Self-Healing Squamous Epithelioma 65
 
Multiple Keratoacanthoma, Muir-Torre Type 51
Torre-Muir Syndrome 65
Mrtes 67
Mts 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
muir-torre syndrome:
Inheritance: Autosomal dominant; Age of onset: Adult


External Ids:

OMIM49 158320
Disease Ontology10 DOID:0050465
MeSH36 D055653
Orphanet51 587
ICD10 via Orphanet28 L72.8
MESH via Orphanet37 D055653
UMLS via Orphanet66 C1321489
MedGen34 C1321489

Summaries for Muir-Torre Syndrome

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NIH Rare Diseases:45 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 anaplastic large cell lymphoma and colorectal cancer, and has symptoms including adenoma sebaceum, neoplasm of the stomach and neoplasm of the colon. An important gene associated with Muir-Torre Syndrome is MSH2 (MutS Homolog 2), and among its related pathways are DNA damage_Role of Brca1 and Brca2 in DNA repair and Integrated Breast Cancer Pathway. Affiliated tissues include skin, colon and breast, and related mouse phenotypes are tumorigenesis and cellular.

UniProtKB/Swiss-Prot:67 Muir-Torre syndrome: Rare autosomal dominant disorder characterized by sebaceous neoplasms and visceral malignancy.

Description from OMIM:49 158320

Related Diseases for Muir-Torre Syndrome

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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 297)
idRelated DiseaseScoreTop Affiliating Genes
1anaplastic large cell lymphoma30.2MLH1, MSH2
2colorectal cancer30.0IFNA2, MLH1, MSH2, MSH6, MUTYH, PMS1
3smallpox30.0MLH1, MSH2, MSH6, PMS2
4adenoma10.8
5adenocarcinoma10.8
6sebaceous adenoma10.7
7keratoacanthoma10.7
8breast cancer10.7
9mlh1-related muir-torre syndrome10.6
10generalized eruptive keratoacanthoma10.6
11ovarian cancer, somatic10.6
12lynch syndrome10.6
13msh2-related muir-torre syndrome10.6
14acanthoma10.5
15glioblastoma multiforme10.5
16transitional cell carcinoma10.5
17glioblastoma10.5
18mitochondrial disorders10.4
19melanoma10.4
20leigh syndrome10.4
21merrf syndrome10.4
22basal cell carcinoma 110.3
23lung cancer10.3
24colorectal cancer, hereditary nonpolyposis, type 110.3
25alpha 1-antitrypsin deficiency10.3
26cholangiocarcinoma10.3
27hepatitis10.3
28small cell carcinoma10.3
29familial adenomatous polyposis10.3
30duodenitis10.3
31pleomorphic liposarcoma10.3
32jejunal adenocarcinoma10.3
33basal cell carcinoma10.3
34cystic teratoma10.3
35endocarditis10.3
36liposarcoma10.3
37sarcoma10.3
38vasculitis10.3
39attenuated familial adenomatous polyposis10.3
40undifferentiated pleomorphic sarcoma10.3
41teratoma10.3
42lichen planus10.3
43keratosis10.3
44lupus erythematosus10.3
45familial keratoacanthoma10.3
46attention deficit-hyperactivity disorder10.3
47kearns-sayre syndrome10.3
48psychotic disorder10.3
49acute mountain sickness10.3
50maternally inherited diabetes and deafness10.3

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



Diseases related to muir-torre syndrome

Symptoms for Muir-Torre Syndrome

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Symptoms by clinical synopsis from OMIM:

158320

Clinical features from OMIM:

158320

Symptoms:

 51 (show all 14)
  • skin tumors/lumps/epidermal cysts
  • adenoma sebaceum
  • autosomal dominant inheritance
  • estomach/gastric neoplasm/tumor/carcinoma/cancer
  • colon neoplasm/tumor/carcinoma/cancer
  • salivary gland neoplasm/tumor/carcinoma/cancer
  • laryngeal neoplasm/tumor/carcinoma/cancer
  • hepatic/liver neoplasm/tumor/carcinoma/cancer
  • breast neoplasm/tumor/carcinoma/cancer
  • uterus/uterine/cervix/endometrium neoplasm/tumor/carcinoma/cancer
  • ovary/fallopian tube neoplasm/tumor/carcinoma/cancer (excl. teratoma/germinoma)
  • kidney/renal neoplasm/tumor/carcinoma/cancer
  • ureteral/urethral/vesical/bladder neoplasm/tumor/carcinoma/cancer
  • hematologic/blood/lymphatic cancer

HPO human phenotypes related to Muir-Torre Syndrome:

(show all 22)
id Description Frequency HPO Source Accession
1 adenoma sebaceum hallmark (90%) HP:0009720
2 neoplasm of the stomach typical (50%) HP:0006753
3 neoplasm of the colon typical (50%) HP:0100273
4 neoplasm of the liver occasional (7.5%) HP:0002896
5 hematological neoplasm occasional (7.5%) HP:0004377
6 renal neoplasm occasional (7.5%) HP:0009726
7 uterine neoplasm occasional (7.5%) HP:0010784
8 neoplasm of the breast occasional (7.5%) HP:0100013
9 ovarian neoplasm occasional (7.5%) HP:0100615
10 salivary gland neoplasm occasional (7.5%) HP:0100684
11 autosomal dominant inheritance HP:0000006
12 colonic diverticula HP:0002253
13 basal cell carcinoma HP:0002671
14 breast carcinoma HP:0003002
15 colon cancer HP:0003003
16 benign gastrointestinal tract tumors HP:0006719
17 malignant genitourinary tract tumor HP:0006758
18 duodenal adenocarcinoma HP:0006771
19 benign genitourinary tract neoplasm HP:0006778
20 adenoma sebaceum HP:0009720
21 laryngeal carcinoma HP:0012118
22 sebaceous gland carcinoma HP:0030410

Drugs & Therapeutics for Muir-Torre Syndrome

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
DabrafenibapprovedPhase 26544462760, 44516822
Synonyms:
BRAF inhibitor GSK2118436
Dabrafenib
Dabrafenib Mesylate
 
GSK2118436
GSK2118436a
Tafinlar
dabrafenib
2
TrametinibapprovedPhase 2103871700-17-311707110
Synonyms:
GSK 1120212
GSK1120212
JTP 74057
JTP-74057
 
MEK Inhibitor GSK1120212
Mekinist
Trametinib Dimethyl Sulfoxide
Trametinibum
trametinib
3
Sorafenibapproved, investigational653284461-73-0216239, 406563
Synonyms:
284461-73-0
4(4-{3-[4-Chloro-3-(trifluoromethyl)phenyl]ureido}phenoxy)-N(sup 2)-methylpyridine-2-carboxamide
4-(4-((((4-Chloro-3-(trifluoromethyl)phenyl)amino)carbonyl)amino)phenoxy)-N-methyl-2-pyridinecarboxamide
4-(4-(3-(4-chloro-3-trifluoromethylphenyl)ureido)phenoxy)pyridine-2-carboxyllic acid methyamide-4-methylbenzenesulfonate
4-(4-{3-(4-Chloro-3-(trifluoromethyl)phenyl)ureido}phenoxy)-N(sup 2)-methylpyridine-2-carboxamide
4-[4-({[4-chloro-3-(trifluoromethyl)phenyl]carbamoyl}amino)phenoxy]-N-methylpyridine-2-carboxamide
4-[4-[[4-chloro-3-(trifluoromethyl)phenyl]carbamoylamino]phenoxy]-N-methyl-pyridine-2-carboxamide
4-[4-[[4-chloro-3-(trifluoromethyl)phenyl]carbamoylamino]phenoxy]-N-methylpyridine-2-carboxamide
4-[4-[[[[4-chloro-3-(trifluoromethyl)phenyl]amino]carbonyl]amino]phenoxy]-N-methyl-2-pyridinecarboxamide
4-{4-[({[4-CHLORO-3-(TRIFLUOROMETHYL)PHENYL]AMINO}CARBONYL)AMINO]PHENOXY}-N-METHYLPYRIDINE-2-CARBOXAMIDE
AB1004622
AC-1674
AC1L50CF
BAX
BAY 43-9006
BAY 43-9006 (free base)
BAY 43-9006 tosylate salt
BAY 439006
BAY 54-9085 (tosylate salt)
BAY-43-0006
BAY-43-9006
BAY-54-9085
BAY43-9006
BRD-K23984367-001-01-8
Bio-0100
CHEBI:47228
CHEBI:50924
CHEMBL1336
CID216239
 
D08524
DB00398
DB07438
EN002709
I06-0856
K00597a
Kinome_766
LS-186067
LS-187021
LS-187788
MolPort-003-850-270
N-(4-Chloro-3-(trifluoromethyl)phenyl)-N'-(4-(2-(N-methylcarbamoyl)-4-pyridyloxy)phenyl)urea
N-(4-Chloro-3-(trifluoromethyl)phenyl)-n'-(4-(2-(N-methylcarbamoyl)-4-pyridyloxy)phenyl)urea
N-(4-chloro-3-(trifluoromethyl)phenyl)-N'-(4-(2-(N-methylcar bamoyl)-4-pyridyloxy)phenyl)urea
N-[4-Chloro-3-(trifluoromethyl)phenyl]-N'-[4-[2-(N-methylcarbamoyl)-4-pyridyloxy]phenyl]urea
NCGC00167488-01
NSC-724772
NSC747971
Nexavar
STK627350
Sorafenib
Sorafenib (INN)
Sorafenib Tosylate
Sorafenib [INN]
Sorafenib tosylate
Sorafenibum
UNII-9ZOQ3TZI87
ZINC01493878
nchembio.117-comp17
sorafenib
sorafenibum

Interventional clinical trials:

idNameStatusNCT IDPhase
1Phase II Biomarker Study Comparing the Combination of BRAF Inhibitor Dabrafenib With MEK Inhibitor Trametinib Versus the Combination After Monotherapy With Dabrafenib or TrametinibRecruitingNCT02314143Phase 2
2A Pilot Study of Trientine With Vemurafenib for the Treatment BRAF Mutated Metastatic MelanomaWithdrawnNCT02068079Phase 1
3Prospective, Non-interventional, Post-authorization Safety Study That Includes All Patients Diagnosed as Unresectable Differentiated Thyroid Carcinoma and Treated With SorafenibRecruitingNCT02185560

Search NIH Clinical Center for Muir-Torre Syndrome


Cochrane evidence based reviews: Muir-Torre Syndrome

Genetic Tests for Muir-Torre Syndrome

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Genetic tests related to Muir-Torre Syndrome:

id Genetic test Affiliating Genes
1 Muir-Torr├ę Syndrome24

Anatomical Context for Muir-Torre Syndrome

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MalaCards organs/tissues related to Muir-Torre Syndrome:

33
Skin, Colon, Breast, Liver, Salivary gland, Cervix, Ovary

Animal Models for Muir-Torre Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Muir-Torre Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.0CYLD, MLH1, MSH2, MSH6, MUTYH, PMS1
2MP:00053847.6CYLD, MLH1, MSH2, MSH5, MSH6, MUTYH
3MP:00053767.6CYLD, ITGA9, MLH1, MSH2, MSH6, MUTYH

Publications for Muir-Torre Syndrome

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Articles related to Muir-Torre Syndrome:

(show top 50)    (show all 176)
idTitleAuthorsYear
1
Neuromalignancy complicating the Muir-Torre syndrome. (26076933)
2015
2
Sebaceous adenomas of the eyelid and Muir-Torre Syndrome. (25595178)
2015
3
Muir-Torre Syndrome and Central Nervous System Malignancy: Highlighting an Uncommon Association. (26035046)
2015
4
Sebaceous hyperplasia of the vulva: a series of cases reporting no association with the Muir-Torre syndrome. (24901406)
2014
5
Fordyce granules and hyperplastic mucosal sebaceous glands as distinctive stigmata in Muir-Torre syndrome patients: characterization with reflectance confocal microscopy. (25213213)
2014
6
Skin lesions with Lynch syndrome could represent Muir-Torre syndrome. (24793211)
2014
7
Screening for Muir-Torre syndrome using mismatch repair protein immunohistochemistry of sebaceous neoplasms. (23212176)
2013
8
Microsatellite and genetic instability in patients with Muir-Torre syndrome. (23891449)
2013
9
Clinical, dermoscopic and reflectance confocal microscopy features of sebaceous neoplasms in Muir-Torre syndrome. (22471909)
2013
10
Germline mutation in MSH6 associated with multiple malignant neoplasms in a patient With Muir-Torre syndrome. (22734033)
2012
11
Considerations on the performance of immunohistochemistry for mismatch repair gene proteins in cases of sebaceous neoplasms and keratoacanthomas with reference to Muir-Torre syndrome. (22123265)
2012
12
Biallelic MYH germline mutations as cause of Muir-Torre syndrome. (19998059)
2010
13
Ileocecal adenocarcinoma and ureteral transitional cell carcinoma with multiple sebaceous tumors and keratoacanthomas in a case of muir-torre syndrome. (20814549)
2010
14
A new mutation in Muir-Torre syndrome associated with familiar transmission of different gastrointestinal adenocarcinomas. (19423266)
2009
15
All patients with sebaceous gland neoplasms should be screened for Muir-Torre syndrome. (19187311)
2009
16
MSH-2 and MLH-1 protein expression in Muir Torre syndrome-related and sporadic sebaceous neoplasms. (19069357)
2008
17
The frequency of Muir-Torre syndrome among Lynch syndrome families. (18270343)
2008
18
Penile keratoacanthoma associated with urothelial carcinoma of the bladder in Muir-Torre syndrome. (17628300)
2007
19
More than just skin deep!: a report on a family with Muir-Torre syndrome. (16575605)
2007
20
Muir-Torre syndrome. (17902735)
2007
21
Eyelid sebaceous carcinoma associated with Muir-Torre syndrome in two cases. (17237705)
2007
22
Sebaceous gland tumors and internal malignancy in the context of Muir-Torre syndrome. A case report and review of the literature. (16466577)
2006
23
The importance of functional testing in the genetic assessment of Muir-Torre syndrome, a clinical subphenotype of HNPCC. (16327991)
2006
24
An illustrative case of Muir-Torre syndrome: contribution of immunohistochemical analysis in identifying indicator sebaceous lesions. (16924054)
2006
25
Muir-Torre syndrome. (16334928)
2005
26
Muir-Torre syndrome: confirmation of diagnosis by immunohistochemical analysis of cutaneous lesions. (14988697)
2004
27
Muir-Torre syndrome presenting with ileus: a case report. (15285550)
2004
28
Sebaceous gland adenoma of the tarsal conjunctiva in a patient with Muir-Torre syndrome. (13129885)
2003
29
Muir-Torre syndrome and early detection of internal malignancy. (12776718)
2003
30
Cystic sebaceous neoplasms in Muir-Torre syndrome. (12708909)
2003
31
Report of a case of Muir-Torre syndrome. (12482055)
2002
32
Loss of DNA mismatch repair proteins in skin tumors from patients with Muir-Torre syndrome and MSH2 or MLH1 germline mutations: establishment of immunohistochemical analysis as a screening test. (11859205)
2002
33
Microsatellite instability and expression of hMLH-1 and hMSH-2 in sebaceous gland carcinomas as markers for Muir-Torre syndrome. (10815898)
2000
34
New mutation in the hMSH2 gene in a Spanish Muir-Torre syndrome. (11007253)
2000
35
Sebaceous neoplasms in Muir-Torre syndrome. (10770437)
2000
36
Sebaceous adenomas with atypical immunohistochemical features in the Muir-Torre syndrome [leter]. (10233335)
1999
37
Cystic sebaceous tumors as marker lesions for the Muir-Torre syndrome: a histopathologic and molecular genetic study. (10535567)
1999
38
The Muir-Torre syndrome: a rare variant of hereditary nonpolyposis colorectal cancer associated with hMSH2 mutation. (9732950)
1998
39
Muir-Torre syndrome. (9641292)
1998
40
Widespread microsatellite instability in sebaceous tumours of patients with the Muir-Torre syndrome. (9349329)
1997
41
Is the mismatch repair deficient type of Muir-Torre syndrome confined to mutations in the hMSH2 gene? (8931714)
1996
42
The genetic basis of Muir-Torre syndrome includes the hMLH1 locus. (8751876)
1996
43
Muir-Torre syndrome and defective DNA mismatch repair genes. (8784301)
1996
44
Muir-Torre syndrome. (7712655)
1995
45
Muir-Torre syndrome: a variant of the cancer family syndrome. (7815421)
1994
46
Muir-Torre syndrome in patients with hematologic malignancies. (1566750)
1992
47
Diagnosing the Muir-Torre syndrome. (1593336)
1992
48
Muir-Torre syndrome with multiple neoplasia. (1467892)
1992
49
Unusual eyelid tumors with sebaceous differentiation in the Muir-Torre syndrome. Rapid clinical regrowth and frank squamous transformation after biopsy. (3211463)
1988
50
Transitional cell carcinoma in the Muir-Torre syndrome. (3599263)
1987

Variations for Muir-Torre Syndrome

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Clinvar genetic disease variations for Muir-Torre Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MLH1MLH1, 370-BP DELdeletionPathogenic
2MSH2NM_000251.2(MSH2): c.1801C> T (p.Gln601Ter)single nucleotide variantPathogenicrs63750047GRCh37Chr 2, 47702205: 47702205
3MSH2NM_000251.2(MSH2): c.269_290dup22 (p.Tyr98Argfs)duplicationPathogenicrs587776529GRCh37Chr 2, 47635597: 47635618
4MSH2MSH2, 32-KB DEL, EX1-6deletionPathogenic
5TGFBR1NM_004612.3(TGFBR1): c.134A> G (p.Asn45Ser)single nucleotide variantPathogenic, risk factorrs387906696GRCh37Chr 9, 101891173: 101891173

Expression for genes affiliated with Muir-Torre Syndrome

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

Pathways for genes affiliated with Muir-Torre Syndrome

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GO Terms for genes affiliated with Muir-Torre Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1MutSalpha complexGO:003230110.2MSH2, MSH6
2MutLalpha complexGO:00323899.5MLH1, PMS1, PMS2
3synaptonemal complexGO:00007959.4MLH1, MSH5
4nuclear chromosomeGO:00002288.8MSH2, MSH5, MSH6

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1somatic recombination of immunoglobulin genes involved in immune responseGO:000220410.5MLH1, MSH2
2positive regulation of helicase activityGO:005109610.5MSH2, MSH6
3negative regulation of DNA recombinationGO:004591010.4MSH2, MSH6
4maintenance of DNA repeat elementsGO:004357010.4MSH2, MSH6
5determination of adult lifespanGO:000834010.3MSH2, MSH6
6isotype switchingGO:004519010.0MLH1, MSH2, MSH6
7homologous chromosome segregationGO:00451439.9MLH1, MSH5
8negative regulation of T cell differentiationGO:00455819.9CYLD, IFNA2
9intrinsic apoptotic signaling pathway in response to DNA damageGO:00086309.9MLH1, MSH2, MSH6
10somatic recombination of immunoglobulin gene segmentsGO:00164479.8MLH1, MSH2, MSH6, PMS2
11somatic hypermutation of immunoglobulin genesGO:00164469.8MLH1, MSH2, MSH6, PMS2
12meiotic mismatch repairGO:00007109.7MSH2, MSH5, MSH6
13cellular response to DNA damage stimulusGO:00069749.6MLH1, MSH2, PMS2
14reciprocal meiotic recombinationGO:00071318.8MLH1, MSH2, MSH5, MSH6
15DNA repairGO:00062818.6MLH1, MSH2, MSH6, MUTYH, PMS2
16mismatch repairGO:00062988.1MLH1, MSH2, MSH5, MSH6, MUTYH, PMS1

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1guanine/thymine mispair bindingGO:003213710.5MSH2, MSH6
2single guanine insertion bindingGO:003214210.5MSH2, MSH6
3single thymine insertion bindingGO:003214310.5MSH2, MSH6
4oxidized purine DNA bindingGO:003235710.5MSH2, MSH6
5ADP bindingGO:004353110.4MSH2, MSH6
6four-way junction DNA bindingGO:000040010.2MSH2, MSH6
7MutLalpha complex bindingGO:003240510.1MSH2, MSH6, MUTYH
8MutSalpha complex bindingGO:003240710.1MLH1, MUTYH, PMS2
9single-stranded DNA bindingGO:00036979.5MLH1, MSH2, PMS1, PMS2
10DNA-dependent ATPase activityGO:00080949.4MSH2, MSH5, MSH6
11damaged DNA bindingGO:00036849.3MSH2, MSH5, MSH6
12ATPase activityGO:00168879.0MLH1, MSH2, MSH6, PMS1, PMS2
13mismatched DNA bindingGO:00309838.6MLH1, MSH2, MSH5, MSH6, PMS1, PMS2
14ATP bindingGO:00055247.7MLH1, MSH2, MSH5, MSH6, PMS1, PMS2

Sources for Muir-Torre Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet