MCID: MRT001
MIFTS: 68

Muir-Torre Syndrome malady

Genetic diseases, Rare diseases, Eye diseases, Gastrointestinal diseases, Skin diseases, Cancer diseases categories
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Summaries for Muir-Torre Syndrome

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43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Muir-torre syndrome is an autosomal dominant skin condition of genetic origin, characterized by tumors of the sebaceous gland or keratoacanthoma that are associated with visceral malignant diseases (cancers of the internal organs). the cutaneous characteristics of muir-torre syndrome are sebaceous adenoma, sebaceous epithelioma, sebaceous carcinoma, or multiple keratoacanthomas, whereas visceral malignant diseases include colorectal, endometrial, urological, and upper gastrointestinal tumors. men are affected twice as often as women. muir-torre syndrome is associated with hereditary non-polyposis colon cancer (hnpcc), an autosomal dominant cancer genetic syndrome. sebaceous neoplasms associated with muir-torre syndrome exhibit microsatellite instability (msi), as do other hnpcc-related cancers. last updated: 6/2/2011

MalaCards: Muir-Torre Syndrome, also known as keratoacanthoma, is related to keratoacanthoma and adenocarcinoma, and has symptoms including laryngeal neoplasm/tumor/carcinoma/cancer, hematologic/blood/lymphatic cancer and salivary gland neoplasm/tumor/carcinoma/cancer. An important gene associated with Muir-Torre Syndrome is MSH2 (mutS homolog 2), and among its related pathways are Doxorubicin Pathway, Pharmacokinetics and Busulfan Pathway, Pharmacodynamics. The compounds 6 thioguanine and mhs-2 have been mentioned in the context of this disorder. Affiliated tissues include skin, colon and breast, and related mouse phenotypes are integument and digestive/alimentary.

Description from OMIM:47 158320

Aliases & Classifications for Muir-Torre Syndrome

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8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 22GTR, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
muir-torre syndrome:
Inheritance: Autosomal dominant; Age of onset: Adulthood


Aliases & Descriptions:

muir-torre syndrome 8 9 43 22 47 10 45 49
keratoacanthoma 43 62
cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas 43
multiple keratoacanthoma, muir-torre type 49
torre-muir syndrome 62


External Ids:

Disease Ontology8 DOID:0050465
MeSH35 D055653
OMIM47 158320
MESH via Orphanet36 D055653
ICD10 via Orphanet26 D23, C44
SNOMED-CT via Orphanet59 403824007
UMLS via Orphanet63 C1321489

Related Diseases for Muir-Torre Syndrome

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17GeneCards, 18GeneDecks
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Diseases in the Muir-Torre Syndrome family:

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

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

(show top 50)    (show all 123)
idRelated DiseaseScoreTop Affiliating Genes
1keratoacanthoma31.0MSH2, MLH1
2adenocarcinoma30.9MLH1, PMS2, MSH6, MSH2, FHIT
3adenoma30.9MLH1, PMS2, MUTYH, MSH6, MSH2, FHIT
4lynch syndrome30.6MSH2, MSH6, PMS2, MLH1
5transitional cell carcinoma30.6MLH1, MSH2, IFNA2, FHIT
6colorectal cancer30.6MLH1, PMS2, MUTYH, MSH6, MSH2, IFNA2
7turcot syndrome30.5PMS2, MLH1
8endometrial carcinoma30.4MLH1, MSH6, MSH2, FHIT
9colon cancer30.4MLH1, MSH6, MSH2, FHIT
10melanoma30.4MLH1, PMS2, MSH2, IFNA2
11familial adenomatous polyposis30.3MLH1, PMS2, MUTYH, MSH6, MSH2
12cervical squamous cell carcinoma30.1MLH1, FHIT
13leukemia29.7FHIT, IFNA2, MSH2, MLH1
14sebaceous adenoma10.6
15acanthoma10.4
16glioblastoma multiforme10.4
17msh2-related muir-torre syndrome10.4
18mlh1-related muir-torre syndrome10.4
19duodenitis10.3
20pleomorphic liposarcoma10.3
21alpha 1-antitrypsin deficiency10.3
22astrocytoma10.3
23basal cell carcinoma10.3
24cholangiocarcinoma10.3
25cystic teratoma10.3
26duodenum cancer10.3
27endocarditis10.3
28hepatitis10.3
29liposarcoma10.3
30lung cancer10.3
31sarcoma10.3
32vasculitis10.3
33attenuated familial adenomatous polyposis10.3
34basal cell carcinoma, somatic10.3
35colorectal cancer, hereditary nonpolyposis, type 110.3
36ileus10.3
37teratoma10.3
38keratosis10.3
39lupus erythematosus10.3
40lichen planus10.2
41familial keratoacanthoma10.2
42discoid lupus erythematosus10.2
43actinic keratosis10.1
44papilloma10.1
45psoriasis10.1
46small intestine cancer10.1MSH6, MLH1
47vulvar keratoacanthoma-like carcinoma10.0
48cutaneous lupus erythematosus10.0
49sporotrichosis10.0
50cervicitis10.0

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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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

158320

Clinical features from OMIM:

158320

Symptoms:

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

Drugs & Therapeutics for Muir-Torre Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Muir-Torre Syndrome

Search NIH Clinical Center for Muir-Torre Syndrome

Genetic Tests for Muir-Torre Syndrome

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22GTR
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Genetic tests related to Muir-Torre Syndrome:

id Genetic test Affiliating Genes
1 Muir-Torré Syndrome22

Anatomical Context for Muir-Torre Syndrome

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33MalaCards
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MalaCards organs/tissues related to Muir-Torre Syndrome:

33
Skin, Colon, Breast, Liver, Ovary, Kidney, Uterus, Eye, Salivary gland, Cervix, Testes, Lung, Retina

Animal Models for Muir-Torre Syndrome or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Muir-Torre Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.8MSH2, MSH6, MLH1, FHIT
2MP:00053818.5MSH2, PMS2, MLH1, FHIT
3MP:00053848.0MLH1, MSH2, MSH6, MUTYH, PMS2
4MP:00020067.9MLH1, FHIT, MSH2, MSH6, MUTYH, PMS2
5MP:00053767.8MLH1, PMS2, MUTYH, MSH6, MSH2, FHIT
6MP:00107687.7FHIT, MLH1, PMS2, MUTYH, MSH6, MSH2

Publications for Muir-Torre Syndrome

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52PubMed
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Articles related to Muir-Torre Syndrome:

(show top 50)    (show all 157)
idTitleAuthorsYear
1
Screening for Muir-Torre syndrome using mismatch repair protein immunohistochemistry of sebaceous neoplasms. (23212176)
2013
2
Microsatellite and genetic instability in patients with Muir-Torre syndrome. (23891449)
2013
3
Clinical, dermoscopic and reflectance confocal microscopy features of sebaceous neoplasms in Muir-Torre syndrome. (22471909)
2013
4
Germline mutation in MSH6 associated with multiple malignant neoplasms in a patient With Muir-Torre syndrome. (22734033)
2012
5
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
6
Muir-Torre syndrome: case report and review of the literature. (21488569)
2011
7
Biallelic MYH germline mutations as cause of Muir-Torre syndrome. (19998059)
2010
8
Ileocecal adenocarcinoma and ureteral transitional cell carcinoma with multiple sebaceous tumors and keratoacanthomas in a case of muir-torre syndrome. (20814549)
2010
9
A new mutation in Muir-Torre syndrome associated with familiar transmission of different gastrointestinal adenocarcinomas. (19423266)
2009
10
All patients with sebaceous gland neoplasms should be screened for Muir-Torre syndrome. (19187311)
2009
11
Muir-Torre syndrome: rare association with duodenal carcinoma]. (20005439)
2009
12
MSH-2 and MLH-1 protein expression in Muir Torre syndrome-related and sporadic sebaceous neoplasms. (19069357)
2008
13
The frequency of Muir-Torre syndrome among Lynch syndrome families. (18270343)
2008
14
Penile keratoacanthoma associated with urothelial carcinoma of the bladder in Muir-Torre syndrome. (17628300)
2007
15
More than just skin deep!: a report on a family with Muir-Torre syndrome. (16575605)
2007
16
Muir-Torre syndrome. (17902735)
2007
17
Eyelid sebaceous carcinoma associated with Muir-Torre syndrome in two cases. (17237705)
2007
18
Cystic sebaceous carcinoma: is it a constant pathognomic marker for Muir-Torre syndrome? (17679191)
2007
19
Sebaceous gland tumors and internal malignancy in the context of Muir-Torre syndrome. A case report and review of the literature. (16466577)
2006
20
The importance of functional testing in the genetic assessment of Muir-Torre syndrome, a clinical subphenotype of HNPCC. (16327991)
2006
21
An illustrative case of Muir-Torre syndrome: contribution of immunohistochemical analysis in identifying indicator sebaceous lesions. (16924054)
2006
22
Muir-Torre syndrome: Diagnostic and screening guidelines. (17034469)
2006
23
Muir-Torre syndrome. (16334928)
2005
24
Muir-Torre syndrome: a case report and review of the literature. (15839358)
2005
25
Muir-Torre syndrome: confirmation of diagnosis by immunohistochemical analysis of cutaneous lesions. (14988697)
2004
26
Muir-Torre syndrome presenting with ileus: a case report. (15285550)
2004
27
Sebaceous gland adenoma of the tarsal conjunctiva in a patient with Muir-Torre syndrome. (13129885)
2003
28
Muir-Torre syndrome and early detection of internal malignancy. (12776718)
2003
29
Cystic sebaceous neoplasms in Muir-Torre syndrome. (12708909)
2003
30
Report of a case of Muir-Torre syndrome. (12482055)
2002
31
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
32
Microsatellite instability and expression of hMLH-1 and hMSH-2 in sebaceous gland carcinomas as markers for Muir-Torre syndrome. (10815898)
2000
33
New mutation in the hMSH2 gene in a Spanish Muir-Torre syndrome. (11007253)
2000
34
Sebaceous neoplasms in Muir-Torre syndrome. (10770437)
2000
35
Sebaceous adenomas with atypical immunohistochemical features in the Muir-Torre syndrome [leter]. (10233335)
1999
36
Cystic sebaceous tumors as marker lesions for the Muir-Torre syndrome: a histopathologic and molecular genetic study. (10535567)
1999
37
The Muir-Torre syndrome: a rare variant of hereditary nonpolyposis colorectal cancer associated with hMSH2 mutation. (9732950)
1998
38
Muir-Torre syndrome. (9641292)
1998
39
Widespread microsatellite instability in sebaceous tumours of patients with the Muir-Torre syndrome. (9349329)
1997
40
Is the mismatch repair deficient type of Muir-Torre syndrome confined to mutations in the hMSH2 gene? (8931714)
1996
41
The genetic basis of Muir-Torre syndrome includes the hMLH1 locus. (8751876)
1996
42
Muir-Torre syndrome and defective DNA mismatch repair genes. (8784301)
1996
43
Muir-Torre syndrome. (7712655)
1995
44
The Muir-Torre syndrome: a 25-year retrospect. (7601953)
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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Muir-Torre Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1MLH1MLH1, 370-BP DELdeletionPathogenic/card/muir_torre_syndrome
2MSH2NM_000251.2(MSH2): c.1801C> T (p.Gln601Ter)single nucleotide variantPathogenicrs63750047GRCh37Chr 2, 47702205: 47702205
3MSH2NM_000251.2(MSH2): c.269_290dup22 (p.Tyr98Argfs)duplicationPathogenicGRCh37Chr 2, 47635597: 47635618
4MSH2MSH2, 32-KB DEL, EX1-6deletionPathogenic

Expression for genes affiliated with Muir-Torre Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Muir-Torre Syndrome

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

Pathways for genes affiliated with Muir-Torre Syndrome

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50PathCards, 51PharmGKB, 38NCBI BioSystems Database, 55Reactome, 53QIAGEN, 30KEGG, 60Thomson Reuters, 5Cell Signaling Technology
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Pathways related to Muir-Torre Syndrome according to GeneCards/GeneDecks:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8MSH2, MLH1
2
Show member pathways
Catalytic cycle of mammalian FMOs38
9.8MSH2, MLH1
3
Show member pathways
9.7MSH6, MSH2
49.5PMS2, MLH1
59.3MSH2, MSH6, MLH1
69.3MSH2, MSH6, MLH1
79.3MLH1, MSH6, MSH2
8
Show member pathways
Signal transduction PTEN pathway60
9.3MLH1, MSH6, MSH2
99.1MSH2, PMS2, MLH1
10
Show member pathways
8.9MUTYH, MLH1, MSH6, MSH2
11
Show member pathways
8.7MSH2, MSH6, PMS2, MLH1

Compounds for genes affiliated with Muir-Torre Syndrome

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45Novoseek, 24HMDB, 11DrugBank, 3BitterDB, 51PharmGKB, 29IUPHAR, 61Tocris Bioscience
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Compounds related to Muir-Torre Syndrome according to GeneCards/GeneDecks:

(show all 22)
idCompoundScoreTop Affiliating Genes
16 thioguanine459.9MLH1, MSH2
2mhs-2459.8PMS2, MLH1
3mnng459.8MSH2, MLH1
4sodium bisulfite459.8FHIT, MLH1
5n-methyl-n-nitrosourea459.7MSH2, MSH6, MLH1
6mononucleotide459.7MSH2, MSH6, MLH1
7o6-methylguanine459.6MSH2, MSH6, MLH1
8adenine45 24 1111.5MSH2, MUTYH, MLH1
9dacarbazine45 1110.3IFNA2, MLH1
10azathioprine45 3 51 1112.3IFNA2, MLH1
11temozolomide45 1110.2MLH1, MSH2, IFNA2
12carboplatin45 51 1111.2IFNA2, MSH2, MLH1
13thymidylate459.2MLH1, MSH2, IFNA2
145fluorouracil459.0IFNA2, MSH2, MLH1
15biotin45 24 1111.0MLH1, PMS2, MSH6, MSH2
16doxorubicin45 51 1110.8MLH1, MSH6, MSH2, IFNA2
17methionine458.7MLH1, IFNA2, FHIT
18crcs458.6FHIT, MSH2, MSH6, PMS2, MLH1
19paraffin458.5MLH1, PMS2, MSH6, MSH2, FHIT
20progesterone45 29 61 24 1112.5FHIT, IFNA2, MLH1
21oxygen45 248.9MLH1, PMS2, MUTYH, IFNA2, FHIT
22cisplatin45 51 61 1110.9MLH1, MUTYH, MSH6, MSH2, IFNA2, FHIT

GO Terms for genes affiliated with Muir-Torre Syndrome

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16Gene Ontology
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Cellular components related to Muir-Torre Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1MutSalpha complexGO:0323019.7MSH2, MSH6
2nuclear chromosomeGO:0002289.7MSH2, MSH6
3mismatch repair complexGO:0323009.4PMS2, MLH1
4MutLalpha complexGO:0323899.2PMS2, MLH1

Biological processes related to Muir-Torre Syndrome according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1meiotic mismatch repairGO:0007109.9MSH6, MSH2
2maintenance of DNA repeat elementsGO:0435709.8MSH6, MSH2
3positive regulation of helicase activityGO:0510969.8MSH2, MSH6
4negative regulation of DNA recombinationGO:0459109.7MSH6, MSH2
5intrinsic apoptotic signaling pathway in response to DNA damageGO:0086309.7MSH6, MLH1
6determination of adult lifespanGO:0083409.6MSH6, MSH2
7isotype switchingGO:0451909.6MSH6, MSH2, MLH1
8somatic recombination of immunoglobulin gene segmentsGO:0164479.3MSH6, MSH2, PMS2
9reciprocal meiotic recombinationGO:0071319.2MSH6, PMS2, MLH1
10somatic hypermutation of immunoglobulin genesGO:0164469.0MSH2, MSH6, PMS2, MLH1
11DNA repairGO:0062819.0MSH2, MSH6, MUTYH
12ATP catabolic processGO:0062008.9MSH2, MSH6, MLH1, PMS2
13mismatch repairGO:0062988.5MLH1, MSH6, MSH2, PMS2, MUTYH

Molecular functions related to Muir-Torre Syndrome according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1single thymine insertion bindingGO:0321439.9MSH6, MSH2
2single guanine insertion bindingGO:0321429.9MSH6, MSH2
3oxidized purine DNA bindingGO:0323579.9MSH6, MSH2
4four-way junction DNA bindingGO:0004009.8MSH2, MSH6
5mismatched DNA bindingGO:0309839.8MSH2, MSH6
6guanine/thymine mispair bindingGO:0321379.6MSH6, MSH2, MLH1
7ADP bindingGO:0435319.6MSH2, MSH6
8MutLalpha complex bindingGO:0324059.5MSH6, MSH2, MUTYH
9DNA-dependent ATPase activityGO:0080949.4MSH6, MSH2
10single-stranded DNA bindingGO:0036979.3PMS2, MLH1, MSH2
11MutSalpha complex bindingGO:0324079.3MLH1, MUTYH, PMS2
12ATPase activityGO:0168879.0PMS2, MLH1, MSH6, MSH2
13ATP bindingGO:0055248.7MLH1, MSH2, MSH6, PMS2
14protein bindingGO:0055156.9IFNA2, MSH2, PMS2, MSH6, FHIT, MLH1

Products for genes affiliated with Muir-Torre Syndrome

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Sources for Muir-Torre Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet