MCID: MRT001
MIFTS: 54

Muir-Torre Syndrome malady

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

Aliases & Classifications for Muir-Torre Syndrome

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 47Novoseek, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 24GTR, 65UMLS, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Muir-Torre Syndrome:

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

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
muir-torre syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 158320
Disease Ontology10 DOID:0050465
MeSH36 D055653
NCIt42 C84905
Orphanet51 587
SNOMED-CT59 403824007
ICD10 via Orphanet28 L72.8
MESH via Orphanet37 D055653
UMLS via Orphanet66 C1321489
MedGen34 C1321489
UMLS65 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 colorectal cancer and mlh1-related muir-torre syndrome, and has symptoms including adenoma sebaceum, neoplasm of the colon and neoplasm of the stomach. An important gene associated with Muir-Torre Syndrome is MSH2 (MutS Homolog 2), and among its related pathways are Busulfan Pathway, Pharmacodynamics and Doxorubicin Pathway, Pharmacokinetics. Affiliated tissues include skin, colon and breast, and related mouse phenotype tumorigenesis.

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 99)
idRelated DiseaseScoreTop Affiliating Genes
1colorectal cancer28.4IFNA2, MLH1, MSH2, MSH6, MUTYH, PMS1
2mlh1-related muir-torre syndrome12.4
3msh2-related muir-torre syndrome12.3
4mt-cyb-related recurrent myoglobinuria11.9
5melas, mt-tf-related11.9
6melas, mt-th-related11.9
7melas, mt-tk-related11.9
8melas, mt-tq-related11.9
9mt-tt related parkinson disease susceptibility11.9
10mohr-tranebjaerg syndrome11.0
11chondrodysplasia punctata, tibia metacarpal type10.9
12alzheimer disease mitochondrial10.9
13adenocarcinoma10.6
14adenoma10.6
15maternally inherited diabetes and deafness10.6
16chorioretinitis10.5MLH1, MSH2
17sebaceous adenoma10.5
18adenomyoma of uterine corpus10.5MLH1, MSH2
19familial congenital fourth cranial nerve palsy10.5MSH2, MUTYH
20keratoacanthoma10.5
21cecal disease10.5MSH2, MUTYH
22hereditary renal cell carcinoma10.4MLH1, MSH2
23intracranial abscess10.4MLH1, MSH6
24lacrimal passage granuloma10.4MSH2, MSH6
25glioblastoma multiforme10.4
26lynch syndrome10.4
27glioblastoma10.4
28skin squamous cell carcinoma10.3MLH1, MSH2
29post-surgical hypoinsulinemia10.3MSH2, PMS1
30basal cell carcinoma 110.3
31colorectal cancer, hereditary nonpolyposis, type 110.3
32duodenum cancer10.3
33biliary tract neoplasm10.3MLH1, MUTYH
34factitious disorder10.3IFNA2, MSH2
35acanthoma10.3
36transitional cell carcinoma10.3
37allergic contact dermatitis10.3MLH1, MSH2, MSH6
38small non-cleaved cell lymphoma10.2MLH1, MSH2, MSH6
39leukemoid reaction10.2MLH1, MSH2, MSH6
40hypothalamic disease10.2MLH1, MSH2
41ulnar neuropathy10.2MLH1, MUTYH
42tracheal lymphoma10.2MLH1, MSH2, MSH6
43atypical mole syndrome10.2MSH2, MSH6, MUTYH
44common variable immunodeficiency10.2MLH1, MSH2, MUTYH
45restless legs syndrome10.2MSH2, MSH6, MUTYH
46neurofibromatosis, familial spinal10.1MLH1, MSH6, PMS2
47lung cancer10.1
48alpha 1-antitrypsin deficiency10.1
49cholangiocarcinoma10.1
50hepatitis10.1

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

UMLS symptoms related to Muir-Torre Syndrome:


skin manifestations, pruritus, exanthema

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 27044462760, 44516822
Synonyms:
BRAF inhibitor GSK2118436
Dabrafenib
Dabrafenib Mesylate
 
GSK2118436
GSK2118436a
Tafinlar
dabrafenib
2
TrametinibapprovedPhase 2111871700-17-311707110
Synonyms:
GSK 1120212
GSK1120212
JTP 74057
JTP-74057
 
MEK Inhibitor GSK1120212
Mekinist
Trametinib Dimethyl Sulfoxide
Trametinibum
trametinib
3Protein Kinase InhibitorsPhase 23162
4
Sorafenibapproved, investigational671284461-73-0216239, 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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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, Prostate, Brain

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:00020068.5MLH1, MSH2, MSH6, MUTYH, PMS1, PMS2

Publications for Muir-Torre Syndrome

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Articles related to Muir-Torre Syndrome:

(show top 50)    (show all 187)
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: Diagnostic and screening guidelines. (17034469)
2006
26
Muir-Torre syndrome. (16334928)
2005
27
Muir-Torre syndrome: confirmation of diagnosis by immunohistochemical analysis of cutaneous lesions. (14988697)
2004
28
Muir-Torre syndrome presenting with ileus: a case report. (15285550)
2004
29
Sebaceous gland adenoma of the tarsal conjunctiva in a patient with Muir-Torre syndrome. (13129885)
2003
30
Muir-Torre syndrome and early detection of internal malignancy. (12776718)
2003
31
Cystic sebaceous neoplasms in Muir-Torre syndrome. (12708909)
2003
32
Report of a case of Muir-Torre syndrome. (12482055)
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

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.9MLH1, MSH2
2
Show member pathways
9.9MLH1, MSH2
39.6MLH1, MSH5
4
Show member pathways
9.5MLH1, MSH2, MSH6
59.5MLH1, MSH2, MSH6
69.5MLH1, MSH2, MSH6
79.5MLH1, MSH2, PMS2
89.1MLH1, MSH2, MSH6, PMS2
9
Show member pathways
8.7MLH1, MSH2, MSH6, MUTYH, PMS2
10
Show member pathways
8.6MLH1, MSH2, MSH6, PMS1, PMS2

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
1chiasmaGO:00057129.6MLH1, PMS1

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

idNameGO IDScoreTop Affiliating Genes
1somatic recombination of immunoglobulin genes involved in immune responseGO:000220410.4MLH1, MSH2
2somatic recombination of immunoglobulin gene segmentsGO:001644710.4MLH1, MSH2
3negative regulation of DNA recombinationGO:004591010.2MSH2, MSH6
4DNA repairGO:00062819.5MLH1, MSH2, MSH6

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1guanine/thymine mispair bindingGO:003213710.5MSH2, MSH6
2single thymine insertion bindingGO:003214310.5MSH2, MSH6
3ADP bindingGO:004353110.3MSH2, MSH6
4double-stranded DNA bindingGO:000369010.1MSH2, MSH6
5single-stranded DNA bindingGO:00036979.0MLH1, MSH2, PMS1, PMS2
6ATP bindingGO:00055248.9MSH2, MSH5, PMS1, PMS2
7DNA bindingGO:00036778.5MSH2, MSH6, MUTYH, 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