MCID: MRT001
MIFTS: 59

Muir-Torre Syndrome malady

Eye, Gastrointestinal, Reproductive, Skin, Cancer categories

Summaries for Muir-Torre Syndrome

Sources:
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 adenoma and adenocarcinoma, and has symptoms including autosomal dominant inheritance, salivary gland neoplasm/tumor/carcinoma/cancer and kidney/renal 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, liver and lung, and related mouse phenotype tumorigenesis.

Description from OMIM:47 158320

Aliases & Classifications for Muir-Torre Syndrome

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 22GTR, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer
Anatomical: Eye, Gastrointestinal, Reproductive, Skin


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 61
cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas 43
multiple keratoacanthoma, muir-torre type 49
torre-muir syndrome 61


External Ids:

Disease Ontology8 DOID:0050465
MeSH35 D055653
OMIM47 158320
MESH via Orphanet36 D055653
ICD10 via Orphanet26 D23, C44
SNOMED-CT via Orphanet58 403824007
UMLS via Orphanet62 C1321489

Related Diseases for Muir-Torre Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 128)
idRelated DiseaseScoreTop Affiliating Genes
1adenoma31.0PMS2, FHIT, MLH1, MUTYH, MSH6, MSH2
2adenocarcinoma30.9PMS2, FHIT, MLH1, MSH6, MSH2
3colorectal cancer30.8PMS1, PMS2, IFNA2, FHIT, MLH1, MUTYH
4transitional cell carcinoma30.6MSH2, MLH1, FHIT, IFNA2
5turcot syndrome30.4PMS2, MLH1
6bilateral breast cancer30.4FHIT
7bladder carcinoma30.3MLH1, FHIT, IFNA2
8familial adenomatous polyposis30.3PMS1, PMS2, MLH1, MUTYH, REEP5, MSH6
9n syndrome10.9
10squamous cell carcinoma10.9
11micro syndrome10.8
12sebaceous adenoma10.7
13eye carcinoma10.6
14eyelid carcinoma10.6
15skin squamous cell carcinoma10.5
16isotretinoin syndrome10.5
17sebaceous adenocarcinoma10.4
18acanthoma10.4
19msh2-related muir-torre syndrome10.4
20mlh1-related muir-torre syndrome10.4
21lichen planus10.3
22familial keratoacanthoma10.3
23sebaceous breast carcinoma10.3
24pleomorphic liposarcoma10.3
25ovarian cystic teratoma10.3
26sebaceous basal cell carcinoma10.3
27conn's syndrome10.3
28ureter adenocarcinoma10.3
29astrocytoma10.3
30basal cell carcinoma10.3
31ureter cancer10.3
32ureter transitional cell carcinoma10.3
33vasculitis10.3
34char syndrome10.3
35attenuated familial adenomatous polyposis10.3
36image syndrome10.3
37basal cell carcinoma, somatic10.3
38colorectal cancer, hereditary nonpolyposis, type 110.3
39teratoma10.3
40ileus10.3
41pleomorphic undifferentiated sarcoma10.3
42verrucous carcinoma10.2
43anal squamous cell carcinoma10.2
44discoid lupus erythematosus10.2
45squamous cell papilloma10.1
46actinic keratosis10.1
47basal cell carcinoma, multiple10.1
48cutaneous lupus erythematosus10.0
49vulvar keratoacanthoma-like carcinoma10.0
50sporotrichosis10.0

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



Diseases related to muir-torre syndrome

Clinical Features for Muir-Torre Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

158320

Clinical synopsis from OMIM:

158320

Symptoms:

49 (show all 14)
  • autosomal dominant inheritance
  • 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
  • estomach/gastric neoplasm/tumor/carcinoma/cancer
  • laryngeal neoplasm/tumor/carcinoma/cancer

Drugs & Therapeutics for Muir-Torre Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
22GTR
See all sources

Genetic tests related to Muir-Torre Syndrome:

id Genetic test Affiliating Genes
1 Muir-torré Syndrome22

Anatomical Context for Muir-Torre Syndrome

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Muir-Torre Syndrome:

33
Skin, Liver, Lung, Retina, Colon, Breast

Animal Models for Muir-Torre Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Muir-Torre Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.0MSH2, MSH6, MUTYH, MLH1, FHIT, PMS2

Publications for Muir-Torre Syndrome

Sources:
51PubMed
See all sources

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
Borderline sebaceous neoplasm in a renal transplant patient without Muir-Torre syndrome. (23174034)
2013
3
Muir-Torre Syndrome in a Middle-Aged Chinese Patient with Sebaceous Carcinoma of the Eyelid. (24117411)
2013
4
Reticulated acanthoma with sebaceous differentiation: another sebaceous neoplasm associated with Muir-Torre syndrome? (23651324)
2013
5
Germline mutation in MSH6 associated with multiple malignant neoplasms in a patient With Muir-Torre syndrome. (22734033)
2012
6
Muir-Torre syndrome - an uncommon localization of sebaceous carcinomas following irradiation. (21864048)
2012
7
Muir-Torre syndrome: case report and review of the literature. (21488569)
2011
8
The cutaneous effects of post-transplant immunosuppression with cyclosporine in Muir-Torre syndrome. (21496695)
2011
9
Biallelic MYH germline mutations as cause of Muir-Torre syndrome. (19998059)
2010
10
A new mutation in Muir-Torre syndrome associated with familiar transmission of different gastrointestinal adenocarcinomas. (19423266)
2009
11
Muir-Torre syndrome: extraocular sebaceous carcinoma with adenocarcinoma of colon in a 76-year-old man. (19549240)
2009
12
Cutaneous sebaceous neoplasms as markers of Muir-Torre syndrome: a diagnostic algorithm. (19515040)
2009
13
Incidence of cutaneous sebaceous carcinoma and risk of associated neoplasms: insight into Muir-Torre syndrome. (18932259)
2008
14
Muir-Torre syndrome caused by partial duplication of MSH2 gene by Alu-mediated nonhomologous recombination. (17941949)
2008
15
Muir-Torre syndrome: a case report and screening recommendations. (18990276)
2008
16
Muir-Torre syndrome associated with endometrial carcinoma. (19093187)
2008
17
Muir-Torre Syndrome: expanding the genotype and phenotype--a further family with a MSH6 mutation. (18236172)
2008
18
A case of Muir-Torre syndrome associated with mucinous hepatic cholangiocarcinoma and a novel germline mutation of the MSH2 gene. (17051350)
2007
19
Muir Torre syndrome: a case report. (18306562)
2007
20
Switching from tacrolimus to sirolimus halts the appearance of new sebaceous neoplasms in Muir-Torre syndrome. (17229076)
2007
21
Muir-torre syndrome with intriguing squamous lesions: a case report and review of the literature. (16456327)
2006
22
Different genetic pathways in the development of periocular sebaceous gland carcinomas in presumptive Muir-Torre syndrome patients. (16395674)
2006
23
Muir Torre syndrome and MSH2 mutations: the importance of dermatological awareness. (16786041)
2006
24
Muir-Torre syndrome: a case of two brothers. (16961537)
2006
25
Muir-Torre syndrome presenting with ileus: a case report. (15285550)
2004
26
Muir-Torre syndrome and early detection of internal malignancy. (12776718)
2003
27
Muir-Torre syndrome: a case for surveillance of the ampulla of Vater. (11961360)
2002
28
Microsatellite instability and immunostaining for MSH-2 and MLH-1 in cutaneous and internal tumors from patients with the Muir-Torre syndrome. (12139636)
2002
29
Microsatellite instability and expression of hMLH-1 and hMSH-2 in sebaceous gland carcinomas as markers for Muir-Torre syndrome. (10815898)
2000
30
Sebaceous neoplasms in Muir-Torre syndrome. (10770437)
2000
31
Muir-Torre syndrome - treatment with isotretinoin and interferon alpha-2a can prevent tumour development. (10894967)
2000
32
Cystic sebaceous tumors as marker lesions for the Muir-Torre syndrome: a histopathologic and molecular genetic study. (10535567)
1999
33
The Muir-Torre syndrome: a rare variant of hereditary nonpolyposis colorectal cancer associated with hMSH2 mutation. (9732950)
1998
34
Muir-Torre syndrome. (9641292)
1998
35
A Muir-Torre syndrome family. (9544152)
1998
36
Solitary facial lesion. Sebaceous adenoma in association with Muir-Torre syndrome (MTS). (9006382)
1997
37
Is the mismatch repair deficient type of Muir-Torre syndrome confined to mutations in the hMSH2 gene? (8931714)
1996
38
The genetic basis of Muir-Torre syndrome includes the hMLH1 locus. (8751876)
1996
39
Metastatic adenocarcinoma to the retina in a patient with Muir-Torre syndrome. (7639310)
1995
40
Sebaceous carcinoma of the eyelid in an immunocompromised patient with Muir-Torre syndrome. (8574982)
1995
41
Microsatellite instability in Muir-Torre syndrome. (8118799)
1994
42
Genetic linkage in Muir-Torre syndrome to the same chromosomal region as cancer family syndrome. (8155392)
1994
43
Obstructive jejunal adenocarcinoma in the Muir-Torre syndrome. (8302390)
1993
44
Muir-Torre syndrome associated with a family history of hyperlipidemia. (8436639)
1993
45
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
46
Muir-Torre syndrome: a case report. (1862560)
1991
47
The Muir-Torre syndrome: a disease of sebaceous and colonic neoplasms. (2917677)
1989
48
Unusual eyelid tumors with sebaceous differentiation in the Muir-Torre syndrome. Rapid clinical regrowth and frank squamous transformation after biopsy. (3211463)
1988
49
Transitional cell carcinoma in the Muir-Torre syndrome. (3599263)
1987
50
Muir-Torre syndrome. (3724167)
1986

Genetic Variations for Muir-Torre Syndrome

Expression for genes affiliated with Muir-Torre Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
50PharmGKB, 52QIAGEN, 30KEGG, 12EMD Millipore, 38NCBI BioSystems Database, 4Cell Signaling Technology, 54Reactome
See all sources

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
Hide members
9.6MSH2, MSH6, MLH1
4
DNA damage Role of Brca1 and Brca2 in DNA repair
Hide members
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

Sources:
45Novoseek, 24HMDB, 11DrugBank, 50PharmGKB, 60Tocris Bioscience
See all sources

Compounds related to Muir-Torre Syndrome according to GeneCards/GeneDecks:

(show all 20)
idCompoundScoreTop Affiliating Genes
1oxygen45 2411.1FHIT
26 thioguanine4510.0MSH2, MLH1
3n-methyl-n-nitrosourea459.9MLH1, MSH6, MSH2
4mononucleotide459.9MSH2, MSH6, MLH1
5o6-methylguanine459.9MSH2, MSH6, MLH1
6temozolomide45 1110.8MSH2, MLH1, IFNA2
7dacarbazine45 1110.8MLH1, IFNA2
8carboplatin45 50 1111.8MSH2, MLH1, IFNA2
9sodium bisulfite459.8MLH1, FHIT
10mhs-2459.8MLH1, PMS2, PMS1
11adenine45 11 2411.8MLH1, MUTYH, MSH2
12thymidylate459.8MSH2, MLH1, IFNA2
13mnng459.6MSH2, MLH1
14biotin45 11 2411.6PMS2, MLH1, MSH6, MSH2
155fluorouracil459.6MSH2, MLH1, IFNA2
16doxorubicin45 50 1111.5IFNA2, MLH1, MSH6, MSH2
175-aza-2deoxycytidine459.2PMS1, FHIT, MLH1
18crcs459.1MSH2, MSH6, MLH1, FHIT, PMS2
19paraffin459.0PMS2, FHIT, MLH1, MSH6, MSH2
20cisplatin45 50 60 1112.0IFNA2, FHIT, MLH1, MSH6, MSH2

GO Terms for genes affiliated with Muir-Torre Syndrome

Sources:
16Gene Ontology
See all sources

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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  • Proteins
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Sources for Muir-Torre Syndrome

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet