MCID: MRT001
MIFTS: 65

Muir-Torre Syndrome malady

Eye diseases, Gastrointestinal diseases, Skin diseases, Cancer diseases categories

Summaries for Muir-Torre Syndrome

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42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 adenoma and adenocarcinoma, and has symptoms including hematologic/blood/lymphatic cancer, ureteral/urethral/vesical/bladder neoplasm/tumor/carcinoma/cancer and adenoma sebaceum. An important gene associated with Muir-Torre Syndrome is MSH2 (mutS homolog 2), and among its related pathways are Busulfan Pathway, Pharmacodynamics and Colorectal Cancer Metastasis. The compounds oxygen and 6 thioguanine have been mentioned in the context of this disorder. Affiliated tissues include skin, colon and breast, and related mouse phenotype tumorigenesis.

Description from OMIM:46 158320

Aliases & Classifications for Muir-Torre Syndrome

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 22GTR, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
muir-torre syndrome:
Inheritance: Autosomal dominant; Age of onset: Adulthood


Aliases & Descriptions:

muir-torre syndrome 8 9 42 22 46 10 44 48
keratoacanthoma 42 60
cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas 42
multiple keratoacanthoma, muir-torre type 48
torre-muir syndrome 60


External Ids:

Disease Ontology8 DOID:0050465
MeSH34 D055653
OMIM46 158320
MESH via Orphanet35 D055653
ICD10 via Orphanet26 D23, C44
SNOMED-CT via Orphanet57 403824007
UMLS via Orphanet61 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 140)
idRelated DiseaseScoreTop Affiliating Genes
1adenoma30.9PMS2, FHIT, MLH1, MUTYH, MSH6, MSH2
2adenocarcinoma30.9PMS2, FHIT, MLH1, MSH6, MSH2
3keratoacanthoma30.8MLH1, MSH2
4colorectal cancer30.7PMS1, PMS2, IFNA2, FHIT, MLH1, MUTYH
5glioblastoma multiforme30.5MLH1, PMS2
6lynch syndrome30.5PMS2, MLH1, MSH6, MSH2
7transitional cell carcinoma30.5MSH2, MLH1, FHIT, IFNA2
8melanoma30.4PMS1, PMS2, IFNA2, MLH1, MSH2
9lung cancer30.3FHIT
10bilateral breast cancer30.3FHIT
11sarcoma30.3MSH2, MLH1
12endometrial carcinoma30.3FHIT, MLH1, MSH6, MSH2
13colon cancer30.3FHIT, MLH1, MSH6, MSH2
14bladder carcinoma30.3MLH1, FHIT, IFNA2
15breast cancer30.3PMS1, PMS2, FHIT, MLH1, MSH6, MSH2
16familial adenomatous polyposis30.3PMS1, PMS2, MLH1, MUTYH, REEP5, MSH6
17leukemia29.7IFNA2, FHIT, MLH1, MSH2
18squamous cell carcinoma10.9
19sebaceous adenoma10.7
20skin squamous cell carcinoma10.5
21sebaceous adenocarcinoma10.4
22acanthoma10.4
23msh2-related muir-torre syndrome10.4
24mlh1-related muir-torre syndrome10.4
25lichen planus10.2
26keratosis10.2
27lupus erythematosus10.2
28sebaceous breast carcinoma10.2
29pleomorphic liposarcoma10.2
30ovarian cystic teratoma10.2
31sebaceous basal cell carcinoma10.2
32duodenitis10.2
33alpha 1-antitrypsin deficiency10.2
34hepatitis a10.2
35astrocytoma10.2
36basal cell carcinoma10.2
37cholangiocarcinoma10.2
38colon adenocarcinoma10.2
39colonic disease10.2
40cystic teratoma10.2
41endocarditis10.2
42familial hyperlipidemia10.2
43hepatitis10.2
44liposarcoma10.2
45mature teratoma10.2
46retroperitoneal sarcoma10.2
47vasculitis10.2
48image syndrome10.2
49basal cell carcinoma, somatic10.2
50colorectal cancer, hereditary nonpolyposis, type 110.2

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



Diseases related to muir-torre syndrome

Clinical Features for Muir-Torre Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

158320

Clinical synopsis from OMIM:

158320

Symptoms:

48 (show all 14)
  • hematologic/blood/lymphatic cancer
  • ureteral/urethral/vesical/bladder neoplasm/tumor/carcinoma/cancer
  • 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
  • skin tumors/lumps/epidermal cysts

Drugs & Therapeutics for Muir-Torre Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Muir-Torre Syndrome

Drug clinical trials:

Search ClinicalTrials for Muir-Torre Syndrome

Search NIH Clinical Center for Muir-Torre Syndrome

Search CenterWatch 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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32MalaCards
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MalaCards organs/tissues related to Muir-Torre Syndrome:

32
Skin, Colon, Breast, Liver, Cervix, Kidney, Salivary gland, Ovary, Uterus, Eye, Testes, Lung, Retina

Animal Models for Muir-Torre Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Muir-Torre Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.0MSH2, MSH6, MUTYH, MLH1, FHIT, PMS2

Publications for Muir-Torre Syndrome

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50PubMed
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Articles related to Muir-Torre Syndrome:

(show top 50)    (show all 159)
idTitleAuthorsYear
1
Microsatellite instability and mismatch repair protein expression in sebaceous tumors, keratocanthoma, and basal cell carcinomas with sebaceous differentiation in Muir-Torre syndrome. (23394915)
2013
2
Muir-Torre syndrome-associated pleomorphic liposarcoma arising in a previous radiation field. (23299928)
2013
3
A case of Muir-Torre syndrome with multiple cancers of bilateral eyelids and breast. (23730114)
2013
4
Limitations of dermatopathology: Muir-Torre syndrome as an example. (23617078)
2013
5
Cervical adenocarcinoma in a patient with Lynch syndrome, Muir-Torre variant. (22124091)
2012
6
Sebaceous adenoma arising within an ovarian mature cystic teratoma in Muir-Torre syndrome. (21684182)
2012
7
Polypoid adenocarcinoma in the efferent jejunal loop after total gastrectomy in a Muir-Torre syndrome patient. (22006496)
2012
8
The liver: another organ involved in Muir Torre syndrome? (21614588)
2012
9
MSH6 mutation in a family affected by Muir-Torre syndrome. (22814321)
2012
10
Simultaneous occurrence of distantly located multiple sebaceous carcinomas with elevated serum TGF-I^ in Muir-Torre syndrome. (22417745)
2012
11
The significance of DNA mismatch repair genes in the diagnosis and management of periocular sebaceous cell carcinoma and Muir-Torre syndrome. (21979897)
2011
12
Immunosuppression and sebaceous tumors: a confirmed diagnosis of Muir-Torre syndrome unmasked by immunosuppressive therapy. (21550136)
2011
13
Ileocecal adenocarcinoma and ureteral transitional cell carcinoma with multiple sebaceous tumors and keratoacanthomas in a case of muir-torre syndrome. (20814549)
2010
14
Muir-Torre syndrome. (20687506)
2010
15
Muir-Torre syndrome: Facts and controversies. (20541687)
2010
16
Sebaceous neoplasia and the Muir-Torre syndrome: important connections with clinical implications. (20055911)
2010
17
Identifying Muir-Torre syndrome in a patient with glioblastoma multiforme. (19028998)
2009
18
The frequency of Muir-Torre syndrome among Lynch syndrome families. (18270343)
2008
19
Muir-Torre syndrome. (18382105)
2008
20
More than just skin deep!: a report on a family with Muir-Torre syndrome. (16575605)
2007
21
Muir-Torre syndrome. (17902735)
2007
22
Eyelid sebaceous carcinoma associated with Muir-Torre syndrome in two cases. (17237705)
2007
23
Cystic sebaceous carcinoma: is it a constant pathognomic marker for Muir-Torre syndrome? (17679191)
2007
24
Sebaceous gland tumors and internal malignancy in the context of Muir-Torre syndrome. A case report and review of the literature. (16466577)
2006
25
Muir-Torre syndrome: Diagnostic and screening guidelines. (17034469)
2006
26
Different phenotypes in Muir-Torre syndrome: clinical and biomolecular characterization in two Italian families. (15949004)
2005
27
Muir-Torre syndrome: confirmation of diagnosis by immunohistochemical analysis of cutaneous lesions. (14988697)
2004
28
Extraocular sebaceous carcinoma in a patient with Muir-Torre syndrome. (15099333)
2004
29
Ophthalmic presentation of the Muir Torre syndrome. (14506428)
2003
30
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
31
Loss of fragile histidine triad (FHIT) expression and microsatellite instability in periocular sebaceous gland carcinoma in patients with Muir-Torre syndrome. (12095833)
2002
32
Molecular pathologic analysis enhances the diagnosis and management of Muir-Torre syndrome and gives insight into its underlying molecular pathogenesis. (11420466)
2001
33
Muir-Torre syndrome. (11478018)
2001
34
Right-sided non-bacterial thrombotic endocarditis in a chronic hemodialysis patient with Muir-Torre syndrome. (11334322)
2001
35
Sebaceous gland carcinoma of the eyelid and palpebral conjunctiva in a patient with Muir-Torre syndrome. (11203175)
2000
36
Sebaceous adenomas with atypical immunohistochemical features in the Muir-Torre syndrome [leter]. (10233335)
1999
37
Colorectal cancer and the Muir-Torre syndrome in a Gypsy family: a review. (10086635)
1999
38
DNA image cytometry in sebaceous tumours of the Muir-Torre syndrome. (9640386)
1998
39
The Muir-Torre syndrome in a black patient with AIDS: histopathology and molecular genetic studies. (9331898)
1997
40
The Muir-Torre syndrome: a 25-year retrospect. (7601953)
1995
41
Clinicopathological relevance of the association between gastrointestinal and sebaceous neoplasms: the Muir-Torre syndrome. (7705822)
1995
42
Muir-Torre syndrome: a variant of the cancer family syndrome. (7815421)
1994
43
Sebaceous gland adenoma of the palpebral conjunctiva in a patient with Muir-Torre-syndrome: a case report. (7890187)
1994
44
Muir-Torre syndrome in patients with hematologic malignancies. (1566750)
1992
45
Diagnosing the Muir-Torre syndrome. (1593336)
1992
46
Muir-Torre syndrome. (1377720)
1992
47
Mucous cell hyperplasia in an odontogenic cyst from a patient with Muir-Torre syndrome. (2231153)
1990
48
Muir-Torre syndrome. Histologic spectrum of sebaceous proliferations. (3728878)
1986
49
Oral isotretinoin therapy for familial Muir-Torre syndrome. (3857234)
1985
50
Muir-Torre syndrome: report of a case and reevaluation of the dermatopathologic features. (7074588)
1982

Genetic Variations for Muir-Torre Syndrome

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Expression for genes affiliated with Muir-Torre Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Muir-Torre Syndrome

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Pathways for genes affiliated with Muir-Torre Syndrome

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Sources:
49PharmGKB, 51QIAGEN, 29KEGG, 12EMD Millipore, 37NCBI BioSystems Database, 4Cell Signaling Technology, 53Reactome
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Pathways related to Muir-Torre Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9MSH2, MLH1
29.6MSH2, MSH6, MLH1
3
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9.6MSH2, MSH6, MLH1
4
DNA damage Role of Brca1 and Brca2 in DNA repair
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9.6MLH1, MSH6, MSH2
59.6PMS2, MLH1, MSH2
6
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9.3MLH1, MUTYH, MSH6, MSH2
7
Hide members
8.9MSH2, MSH6, MLH1, PMS2, PMS1

Compounds for genes affiliated with Muir-Torre Syndrome

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44Novoseek, 24HMDB, 11DrugBank, 49PharmGKB, 59Tocris Bioscience
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Compounds related to Muir-Torre Syndrome according to GeneCards/GeneDecks:

(show all 20)
idCompoundScoreTop Affiliating Genes
1oxygen44 2411.1FHIT
26 thioguanine4410.0MSH2, MLH1
3n-methyl-n-nitrosourea449.9MLH1, MSH6, MSH2
4mononucleotide449.9MSH2, MSH6, MLH1
5o6-methylguanine449.9MSH2, MSH6, MLH1
6temozolomide44 1110.8MSH2, MLH1, IFNA2
7dacarbazine44 1110.8MLH1, IFNA2
8carboplatin44 49 1111.8MSH2, MLH1, IFNA2
9sodium bisulfite449.8MLH1, FHIT
10mhs-2449.8MLH1, PMS2, PMS1
11adenine44 11 2411.8MLH1, MUTYH, MSH2
12thymidylate449.8MSH2, MLH1, IFNA2
13mnng449.6MSH2, MLH1
14biotin44 11 2411.6PMS2, MLH1, MSH6, MSH2
155fluorouracil449.6MSH2, MLH1, IFNA2
16doxorubicin44 49 1111.5IFNA2, MLH1, MSH6, MSH2
175-aza-2deoxycytidine449.2PMS1, FHIT, MLH1
18crcs449.1MSH2, MSH6, MLH1, FHIT, PMS2
19paraffin449.0PMS2, FHIT, MLH1, MSH6, MSH2
20cisplatin44 49 59 1112.0IFNA2, FHIT, MLH1, MSH6, MSH2

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
1nuclear chromosomeGO:0002289.9MSH2, MSH6
2MutSalpha complexGO:0323019.6MSH2, MSH6
3mismatch repair complexGO:0323009.4MLH1, PMS1, PMS2
4MutLalpha complexGO:0323899.3PMS1, PMS2, MLH1

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1meiotic mismatch repairGO:00071010.0MSH2, MSH6
2positive regulation of helicase activityGO:05109610.0MSH6, MSH2
3maintenance of DNA repeat elementsGO:0435709.9MSH6, MSH2
4intrinsic apoptotic signaling pathway in response to DNA damageGO:0086309.9MSH6, MLH1
5negative regulation of DNA recombinationGO:0459109.8MSH2, MSH6
6isotype switchingGO:0451909.8MSH2, MSH6, MLH1
7somatic recombination of immunoglobulin gene segmentsGO:0164479.8MSH2, MSH6, PMS2
8determination of adult lifespanGO:0083409.6MSH2, MSH6
9somatic hypermutation of immunoglobulin genesGO:0164469.5PMS2, MLH1, MSH6, MSH2
10reciprocal meiotic recombinationGO:0071319.4PMS1, PMS2, MLH1, MSH6
11ATP catabolic processGO:0062009.3PMS1, PMS2, MLH1, MSH6
12mismatch repairGO:0062988.8MSH2, MSH6, MUTYH, MLH1, PMS2, PMS1

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1single thymine insertion bindingGO:03214310.1MSH6, MSH2
2single guanine insertion bindingGO:03214210.1MSH2, MSH6
3oxidized purine DNA bindingGO:03235710.0MSH2, MSH6
4four-way junction DNA bindingGO:00040010.0MSH6, MSH2
5guanine/thymine mispair bindingGO:0321379.9MLH1, MSH6, MSH2
6MutLalpha complex bindingGO:0324059.8MSH2, MSH6, MUTYH
7endonuclease activityGO:0045199.8MUTYH, PMS2
8ADP bindingGO:0435319.8MSH6, MSH2
9mismatched DNA bindingGO:0309839.7MSH2, MSH6, PMS1
10DNA-dependent ATPase activityGO:0080949.6MSH2, MSH6
11MutSalpha complex bindingGO:0324079.4MUTYH, MLH1, PMS2, PMS1
12single-stranded DNA bindingGO:0036979.4PMS1, PMS2, MLH1, MSH2
13ATPase activityGO:0168879.1PMS1, PMS2, MLH1, MSH6, MSH2
14protein bindingGO:0055156.1PMS2, IFNA2, FHIT, MLH1, MUTYH, REEP5

Products for genes affiliated with Muir-Torre Syndrome

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Sources for Muir-Torre Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet