MCID: MRT001
MIFTS: 69

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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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 based summary: Muir-Torre Syndrome, also known as keratoacanthoma, is related to keratoacanthoma and turcot syndrome, and has symptoms including skin tumors/lumps/epidermal cysts, adenoma sebaceum and autosomal dominant inheritance. 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:46 158320

Aliases & Classifications for Muir-Torre Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 22GTR, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Muir-Torre Syndrome, Aliases & Descriptions:

Name: Muir-Torre Syndrome 8 9 42 22 46 10 44 48
Keratoacanthoma 42 62
Cutaneous Sebaceous Neoplasms and Keratoacanthomas Multiple with Gastrointestinal and Other Carcinomas 42
 
Multiple Keratoacanthoma, Muir-Torre Type 48
Torre-Muir Syndrome 62


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:0050465
OMIM46 158320
MeSH34 D055653
MESH via Orphanet35 D055653
ICD10 via Orphanet26 L72.8
UMLS via Orphanet63 C1321489

Related Diseases for Muir-Torre Syndrome

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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 131)
idRelated DiseaseScoreTop Affiliating Genes
1keratoacanthoma31.4MSH2, MLH1
2turcot syndrome30.7PMS2, MLH1
3lynch syndrome30.6MSH2, MSH6, PMS2, MLH1
4adenocarcinoma30.4MLH1, PMS2, MSH6, MSH2, FHIT
5cervical squamous cell carcinoma30.3MLH1, FHIT
6endometrial carcinoma30.3MLH1, MSH6, MSH2, FHIT
7transitional cell carcinoma30.3MLH1, MSH2, IFNA2, FHIT
8adenoma30.3MLH1, PMS2, MUTYH, MSH6, MSH2, FHIT
9familial adenomatous polyposis30.0MLH1, PMS2, MUTYH, MSH6, MSH2
10melanoma29.9MLH1, PMS2, MSH2, IFNA2
11colorectal cancer29.5MLH1, PMS2, MUTYH, MSH6, MSH2, IFNA2
12leukemia29.3FHIT, IFNA2, MSH2, MLH1
13sebaceous adenoma10.7
14mlh1-related muir-torre syndrome10.5
15generalized eruptive keratoacanthoma10.5
16acanthoma10.5
17glioblastoma multiforme10.5
18glioblastoma10.5
19msh2-related muir-torre syndrome10.5
20alpha 1-antitrypsin deficiency10.3
21cholangiocarcinoma10.3
22hepatitis10.3
23pleomorphic liposarcoma10.3
24jejunal adenocarcinoma10.3
25duodenitis10.3
26astrocytoma10.3
27basal cell carcinoma10.3
28colon cancer10.3
29cystic teratoma10.3
30endocarditis10.3
31liposarcoma10.3
32lung cancer10.3
33sarcoma10.3
34vasculitis10.3
35attenuated familial adenomatous polyposis10.3
36basal cell carcinoma, somatic10.3
37colorectal cancer, hereditary nonpolyposis, type 110.3
38ileus10.3
39teratoma10.3
40keratosis10.3
41lupus erythematosus10.3
42familial keratoacanthoma10.3
43small intestine cancer10.3MSH6, MLH1
44lichen planus10.3
45discoid lupus erythematosus10.2
46actinic keratosis10.1
47papilloma10.1
48psoriasis10.1
49gallbladder cancer10.1FHIT, MLH1
50familial colorectal cancer10.1MSH2, MSH6, MLH1

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:

48 (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 22)
id Description Frequency HPO Source Accession
1 adenoma sebaceum hallmark (90%) HP:0009720
2 neoplasm of the stomach typical (50%) HP:0006753
3 neoplasm of the colon typical (50%) HP:0100273
4 neoplasm of the liver occasional (7.5%) HP:0002896
5 hematological neoplasm occasional (7.5%) HP:0004377
6 renal neoplasm occasional (7.5%) HP:0009726
7 uterine neoplasm occasional (7.5%) HP:0010784
8 neoplasm of the breast occasional (7.5%) HP:0100013
9 neoplasm of the larynx occasional (7.5%) HP:0100605
10 ovarian neoplasm occasional (7.5%) HP:0100615
11 salivary gland neoplasm occasional (7.5%) HP:0100684
12 autosomal dominant inheritance HP:0000006
13 colonic diverticulosis HP:0002253
14 basal cell carcinoma HP:0002671
15 breast carcinoma HP:0003002
16 colon cancer HP:0003003
17 benign gastrointestinal tract tumors HP:0006719
18 malignant genitourinary tract tumor HP:0006758
19 duodenal carcinoma HP:0006771
20 benign genitourinary tract neoplasm HP:0006778
21 adenoma sebaceum HP:0009720
22 laryngeal carcinoma HP:0012118

Drugs & Therapeutics for Muir-Torre Syndrome

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Drug clinical trials:

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Search NIH Clinical Center for Muir-Torre Syndrome

Genetic Tests for Muir-Torre Syndrome

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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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MalaCards organs/tissues related to Muir-Torre Syndrome:

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

Animal Models for Muir-Torre Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Muir-Torre Syndrome:

36
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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Articles related to Muir-Torre Syndrome:

(show top 50)    (show all 164)
idTitleAuthorsYear
1
Sebaceous hyperplasia of the vulva: a series of cases reporting no association with the Muir-Torre syndrome. (24901406)
2014
2
Fordyce granules and hyperplastic mucosal sebaceous glands as distinctive stigmata in Muir-Torre syndrome patients: characterization with reflectance confocal microscopy. (25213213)
2014
3
Skin lesions with Lynch syndrome could represent Muir-Torre syndrome. (24793211)
2014
4
Screening for Muir-Torre syndrome using mismatch repair protein immunohistochemistry of sebaceous neoplasms. (23212176)
2013
5
Microsatellite and genetic instability in patients with Muir-Torre syndrome. (23891449)
2013
6
Clinical, dermoscopic and reflectance confocal microscopy features of sebaceous neoplasms in Muir-Torre syndrome. (22471909)
2013
7
Germline mutation in MSH6 associated with multiple malignant neoplasms in a patient With Muir-Torre syndrome. (22734033)
2012
8
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
9
Biallelic MYH germline mutations as cause of Muir-Torre syndrome. (19998059)
2010
10
Ileocecal adenocarcinoma and ureteral transitional cell carcinoma with multiple sebaceous tumors and keratoacanthomas in a case of muir-torre syndrome. (20814549)
2010
11
A new mutation in Muir-Torre syndrome associated with familiar transmission of different gastrointestinal adenocarcinomas. (19423266)
2009
12
All patients with sebaceous gland neoplasms should be screened for Muir-Torre syndrome. (19187311)
2009
13
MSH-2 and MLH-1 protein expression in Muir Torre syndrome-related and sporadic sebaceous neoplasms. (19069357)
2008
14
The frequency of Muir-Torre syndrome among Lynch syndrome families. (18270343)
2008
15
Penile keratoacanthoma associated with urothelial carcinoma of the bladder in Muir-Torre syndrome. (17628300)
2007
16
More than just skin deep!: a report on a family with Muir-Torre syndrome. (16575605)
2007
17
Muir-Torre syndrome. (17902735)
2007
18
Eyelid sebaceous carcinoma associated with Muir-Torre syndrome in two cases. (17237705)
2007
19
Cystic sebaceous carcinoma: is it a constant pathognomic marker for Muir-Torre syndrome? (17679191)
2007
20
Sebaceous gland tumors and internal malignancy in the context of Muir-Torre syndrome. A case report and review of the literature. (16466577)
2006
21
The importance of functional testing in the genetic assessment of Muir-Torre syndrome, a clinical subphenotype of HNPCC. (16327991)
2006
22
An illustrative case of Muir-Torre syndrome: contribution of immunohistochemical analysis in identifying indicator sebaceous lesions. (16924054)
2006
23
Muir-Torre syndrome: Diagnostic and screening guidelines. (17034469)
2006
24
Muir-Torre syndrome. (16334928)
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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Clinvar genetic disease variations for Muir-Torre Syndrome:

6
id Gene Name 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)duplicationPathogenicGRCh37Chr 2, 47635597: 47635618
4MSH2MSH2, 32-KB DEL, EX1-6deletionPathogenic

Expression for genes affiliated with Muir-Torre Syndrome

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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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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 FMOs37
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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Compounds related to Muir-Torre Syndrome according to GeneCards/GeneDecks:

(show all 22)
idCompoundScoreTop Affiliating Genes
16 thioguanine449.9MLH1, MSH2
2mhs-2449.8PMS2, MLH1
3mnng449.8MLH1, MSH2
4sodium bisulfite449.8FHIT, MLH1
5n-methyl-n-nitrosourea449.7MSH6, MSH2, MLH1
6mononucleotide449.7MSH2, MSH6, MLH1
7o6-methylguanine449.6MSH2, MSH6, MLH1
8adenine44 24 1111.5MUTYH, MLH1, MSH2
9dacarbazine44 1110.3IFNA2, MLH1
10azathioprine44 2 50 1112.3MLH1, IFNA2
11temozolomide44 1110.2MSH2, MLH1, IFNA2
12carboplatin44 50 1111.2MLH1, MSH2, IFNA2
13thymidylate449.2MLH1, IFNA2, MSH2
145fluorouracil449.0MLH1, MSH2, IFNA2
15biotin44 24 1111.0PMS2, MSH6, MSH2, MLH1
16doxorubicin44 50 1110.8MLH1, MSH6, MSH2, IFNA2
17methionine448.7FHIT, IFNA2, MLH1
18crcs448.6MLH1, PMS2, MSH6, MSH2, FHIT
19paraffin448.5MLH1, MSH2, FHIT, MSH6, PMS2
20progesterone44 28 61 24 1112.5IFNA2, MLH1, FHIT
21oxygen44 248.9MUTYH, MLH1, FHIT, IFNA2, PMS2
22cisplatin44 50 61 1110.9MLH1, MUTYH, FHIT, IFNA2, MSH2, MSH6

GO Terms for genes affiliated with Muir-Torre Syndrome

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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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet