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 laryngeal neoplasm/tumor/carcinoma/cancer, estomach/gastric neoplasm/tumor/carcinoma/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 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)
  • laryngeal neoplasm/tumor/carcinoma/cancer
  • estomach/gastric neoplasm/tumor/carcinoma/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
  • adenoma sebaceum
  • uterus/uterine/cervix/endometrium neoplasm/tumor/carcinoma/cancer
  • hepatic/liver neoplasm/tumor/carcinoma/cancer
  • hematologic/blood/lymphatic cancer
  • autosomal dominant inheritance

Drugs & Therapeutics for Muir-Torre Syndrome

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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, Kidney, Eye, Ovary, Uterus, Salivary gland, Cervix, Testes, Retina, Lung

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 and genetic instability in patients with Muir-Torre syndrome. (23891449)
2013
2
Retroperitoneal undifferentiated pleomorphic sarcoma having microsatellite instability associated with Muir-Torre syndrome: case report and review of literature. (23672746)
2013
3
Muir-Torre Syndrome in a Middle-Aged Chinese Patient with Sebaceous Carcinoma of the Eyelid. (24117411)
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 - an uncommon localization of sebaceous carcinomas following irradiation. (21864048)
2012
7
Glioblastoma multiforme in the Muir-Torre syndrome. (21288634)
2011
8
Biallelic MYH germline mutations as cause of Muir-Torre syndrome. (19998059)
2010
9
All patients with sebaceous gland neoplasms should be screened for Muir-Torre syndrome. (19187311)
2009
10
Reticulated acanthoma with sebaceous differentiation. Lack of association with Muir-Torre syndrome. (19461247)
2009
11
Is a cystic sebaceous neoplasm always marker for Muir-Torre syndrome? (19951647)
2009
12
Muir-torre syndrome: a case report. (20729952)
2009
13
Muir-Torre syndrome: extraocular sebaceous carcinoma with adenocarcinoma of colon in a 76-year-old man. (19549240)
2009
14
MSH-2 and MLH-1 protein expression in Muir Torre syndrome-related and sporadic sebaceous neoplasms. (19069357)
2008
15
MSH-6: extending the reliability of immunohistochemistry as a screening tool in Muir-Torre syndrome. (18065960)
2008
16
Muir-Torre syndrome caused by partial duplication of MSH2 gene by Alu-mediated nonhomologous recombination. (17941949)
2008
17
Muir-Torre syndrome: a rare but important disorder. (19055168)
2008
18
Immunohistochemistry screening of sebaceous lesions for Muir-Torre syndrome in a 26-year period in a Mexican population. (19265614)
2008
19
Muir-Torre Syndrome: expanding the genotype and phenotype--a further family with a MSH6 mutation. (18236172)
2008
20
Penile keratoacanthoma associated with urothelial carcinoma of the bladder in Muir-Torre syndrome. (17628300)
2007
21
MSH6 mutation in Muir-Torre syndrome: could this be a rare finding? (17199584)
2007
22
Switching from tacrolimus to sirolimus halts the appearance of new sebaceous neoplasms in Muir-Torre syndrome. (17229076)
2007
23
Muir Torre syndrome and MSH2 mutations: the importance of dermatological awareness. (16786041)
2006
24
Value of MLH1 and MSH2 mutations in the appearance of Muir-Torre syndrome phenotype in HNPCC patients presenting sebaceous gland tumors or keratoacanthomas. (16826164)
2006
25
Muir-Torre syndrome. (16962019)
2006
26
Muir-Torre syndrome. (16334928)
2005
27
Muir-Torre syndrome. (16321766)
2005
28
Muir-Torre syndrome presenting with ileus: a case report. (15285550)
2004
29
Muir-Torre syndrome: role of the dermatopathologist in diagnosis. (15166510)
2004
30
A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome. (15235030)
2004
31
Sebaceous gland adenoma of the tarsal conjunctiva in a patient with Muir-Torre syndrome. (13129885)
2003
32
Cystic sebaceous neoplasms in Muir-Torre syndrome. (12708909)
2003
33
Muir-Torre syndrome: a case for surveillance of the ampulla of Vater. (11961360)
2002
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
Probable involvement of a germ-line mutation of an unknown mismatch repair gene in a Japanese Muir-Torre syndrome phenotype. (10808129)
2000
37
Muir-Torre syndrome: case report of a patient with concurrent jejunal and ureteral cancer and a review of the literature. (10534628)
1999
38
The Muir-Torre syndrome: a rare variant of hereditary nonpolyposis colorectal cancer associated with hMSH2 mutation. (9732950)
1998
39
Muir-Torre syndrome: clinical features and molecular genetic analysis. (9217825)
1997
40
Solitary sebaceoma in Muir-Torre syndrome. (8854168)
1996
41
Metastatic adenocarcinoma to the retina in a patient with Muir-Torre syndrome. (7639310)
1995
42
Genitourinary tumors in men with the Muir-Torre syndrome. (7593809)
1995
43
Muir-Torre syndrome associated with a family history of hyperlipidemia. (8436639)
1993
44
The familial Muir-Torre syndrome. (8357130)
1993
45
Muir-Torre syndrome with multiple neoplasia. (1467892)
1992
46
Muir-Torre syndrome associated with alpha 1-antitrypsin deficiency and cutaneous vasculitis. Report of a case with exacerbation of a cutaneous neoplasm during immunosuppressive therapy. (2050856)
1991
47
Muir-Torre syndrome: a case report. (1862560)
1991
48
The Muir-Torre syndrome: a disease of sebaceous and colonic neoplasms. (2917677)
1989
49
Muir-Torre syndrome. (3724167)
1986
50
Muir-Torre syndrome in several members of a family with a variant of the Cancer Family Syndrome. (4063166)
1985

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

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

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
Hide members
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