MCID: MRT001
MIFTS: 62

Muir-Torre Syndrome malady

Genetic diseases, Rare diseases, Eye diseases, Gastrointestinal diseases, Skin diseases, Cancer diseases categories

Aliases & Classifications for Muir-Torre Syndrome

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Sources:
46OMIM, 8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 48Orphanet, 22GTR, 61UMLS, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Aliases & Descriptions for Muir-Torre Syndrome:

Name: Muir-Torre Syndrome 46 8 9 42 10 44 48 22
Multiple Keratoacanthoma, Muir-Torre Type 42 48
Hereditary Keratoacanthoma 42 48
Multiple Keratoacanthoma 42 48
Familial Keratoacanthoma 42 48
 
Keratoacanthoma 42 61
Cutaneous Sebaceous Neoplasms and Keratoacanthomas Multiple with Gastrointestinal and Other Carcinomas 42
Multiple Self-Healing Squamous Epithelioma 61
Torre-Muir Syndrome 61


Classifications:



Characteristics (Orphanet epidemiological data):

48
muir-torre syndrome:
Inheritance: Autosomal dominant; Age of onset: Adult
hereditary keratoacanthoma:
Inheritance: Autosomal dominant; Age of onset: All ages


External Ids:

OMIM46 158320
Disease Ontology8 DOID:0050465
MeSH33 D055653
Orphanet48 587, 493
MESH via Orphanet34 D055653
ICD10 via Orphanet26 L72.8, L85.8
UMLS via Orphanet62 C1321489

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 multiple keratoacanthoma, muir-torre type, is related to keratoacanthoma and colorectal cancer, and has symptoms including hyperkeratosis, adenoma sebaceum and skin ulcer. 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

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 Suite gene sharing:

(show top 50)    (show all 121)
idRelated DiseaseScoreTop Affiliating Genes
1keratoacanthoma31.4MSH2, MLH1
2colorectal cancer30.7MLH1, MSH6, MSH2, FHIT
3lynch syndrome30.6MSH2, MSH6, PMS2, MLH1
4adenocarcinoma30.4MLH1, PMS2, MSH6, MSH2, FHIT
5cervical squamous cell carcinoma30.3MLH1, FHIT
6adenoma30.3MLH1, PMS2, MUTYH, MSH6, MSH2, FHIT
7transitional cell carcinoma30.3MLH1, MSH2, IFNA2, FHIT
8melanoma29.9MLH1, PMS2, MSH2, IFNA2
9leukemia29.3FHIT, IFNA2, MSH2, MLH1
10sebaceous adenoma10.7
11mlh1-related muir-torre syndrome10.6
12generalized eruptive keratoacanthoma10.5
13msh2-related muir-torre syndrome10.5
14acanthoma10.5
15glioblastoma multiforme10.5
16glioblastoma10.5
17lung cancer10.3
18basal cell carcinoma, somatic10.3
19colorectal cancer, hereditary nonpolyposis, type 110.3
20cholangiocarcinoma10.3
21hepatitis10.3
22jejunal adenocarcinoma10.3
23duodenitis10.3
24pleomorphic liposarcoma10.3
25astrocytoma10.3
26basal cell carcinoma10.3
27cystic teratoma10.3
28endocarditis10.3
29liposarcoma10.3
30sarcoma10.3
31vasculitis10.3
32attenuated familial adenomatous polyposis10.3
33ileus10.3
34teratoma10.3
35undifferentiated pleomorphic sarcoma10.3
36lichen planus10.3
37keratosis10.3
38lupus erythematosus10.3
39small intestine cancer10.3MSH6, MLH1
40discoid lupus erythematosus10.2
41mismatch repair cancer syndrome10.2PMS2, MLH1
42actinic keratosis10.1
43vulvar keratoacanthoma-like carcinoma10.1
44psoriasis10.1
45multiple keratoacanthoma, ferguson-smith type10.1
46gallbladder cancer10.1FHIT, MLH1
47skin benign neoplasm10.1MLH1, MSH6, MSH2
48renal cell carcinoma10.1IFNA2
49gastric adenocarcinoma10.1FHIT, MLH1
50cutaneous lupus erythematosus10.1

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 20)
  • 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
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • chronic skin infection/ulcerations/ulcers/cancrum
  • follicular/erythematous/edematous papules/milium
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • warts/papillomas
  • neoplasms/tumors

HPO human phenotypes related to Muir-Torre Syndrome:

(show all 25)
id Description Frequency HPO Source Accession
1 hyperkeratosis hallmark (90%) HP:0000962
2 adenoma sebaceum hallmark (90%) HP:0009720
3 skin ulcer hallmark (90%) HP:0200042
4 verrucae typical (50%) HP:0200043
5 neoplasm of the stomach typical (50%) HP:0006753
6 neoplasm of the colon typical (50%) HP:0100273
7 neoplasm of the liver occasional (7.5%) HP:0002896
8 hematological neoplasm occasional (7.5%) HP:0004377
9 renal neoplasm occasional (7.5%) HP:0009726
10 uterine neoplasm occasional (7.5%) HP:0010784
11 neoplasm of the breast occasional (7.5%) HP:0100013
12 neoplasm of the larynx occasional (7.5%) HP:0100605
13 ovarian neoplasm occasional (7.5%) HP:0100615
14 salivary gland neoplasm occasional (7.5%) HP:0100684
15 autosomal dominant inheritance HP:0000006
16 colonic diverticulosis HP:0002253
17 basal cell carcinoma HP:0002671
18 breast carcinoma HP:0003002
19 colon cancer HP:0003003
20 benign gastrointestinal tract tumors HP:0006719
21 malignant genitourinary tract tumor HP:0006758
22 duodenal carcinoma HP:0006771
23 benign genitourinary tract neoplasm HP:0006778
24 adenoma sebaceum HP:0009720
25 laryngeal carcinoma HP:0012118

Drugs & Therapeutics for Muir-Torre Syndrome

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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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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:

31
Skin, Colon, Breast, Liver, Salivary gland, Eye, Kidney, 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:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.8FHIT, MSH2, MSH6, MLH1
2MP:00053818.5FHIT, MSH2, PMS2, MLH1
3MP:00053848.0MLH1, PMS2, MUTYH, MSH6, MSH2
4MP:00020067.9FHIT, MSH2, MSH6, MUTYH, PMS2, MLH1
5MP:00053767.8MLH1, PMS2, MUTYH, MSH6, MSH2, FHIT
6MP:00107687.7MLH1, PMS2, MUTYH, MSH6, MSH2, FHIT

Publications for Muir-Torre Syndrome

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Articles related to Muir-Torre Syndrome:

(show top 50)    (show all 170)
idTitleAuthorsYear
1
Sebaceous adenomas of the eyelid and Muir-Torre Syndrome. (25595178)
2015
2
Sebaceous hyperplasia of the vulva: a series of cases reporting no association with the Muir-Torre syndrome. (24901406)
2014
3
Fordyce granules and hyperplastic mucosal sebaceous glands as distinctive stigmata in Muir-Torre syndrome patients: characterization with reflectance confocal microscopy. (25213213)
2014
4
Skin lesions with Lynch syndrome could represent Muir-Torre syndrome. (24793211)
2014
5
Screening for Muir-Torre syndrome using mismatch repair protein immunohistochemistry of sebaceous neoplasms. (23212176)
2013
6
Microsatellite and genetic instability in patients with Muir-Torre syndrome. (23891449)
2013
7
Clinical, dermoscopic and reflectance confocal microscopy features of sebaceous neoplasms in Muir-Torre syndrome. (22471909)
2013
8
Germline mutation in MSH6 associated with multiple malignant neoplasms in a patient With Muir-Torre syndrome. (22734033)
2012
9
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
10
Biallelic MYH germline mutations as cause of Muir-Torre syndrome. (19998059)
2010
11
Ileocecal adenocarcinoma and ureteral transitional cell carcinoma with multiple sebaceous tumors and keratoacanthomas in a case of muir-torre syndrome. (20814549)
2010
12
A new mutation in Muir-Torre syndrome associated with familiar transmission of different gastrointestinal adenocarcinomas. (19423266)
2009
13
All patients with sebaceous gland neoplasms should be screened for Muir-Torre syndrome. (19187311)
2009
14
MSH-2 and MLH-1 protein expression in Muir Torre syndrome-related and sporadic sebaceous neoplasms. (19069357)
2008
15
The frequency of Muir-Torre syndrome among Lynch syndrome families. (18270343)
2008
16
Penile keratoacanthoma associated with urothelial carcinoma of the bladder in Muir-Torre syndrome. (17628300)
2007
17
More than just skin deep!: a report on a family with Muir-Torre syndrome. (16575605)
2007
18
Muir-Torre syndrome. (17902735)
2007
19
Eyelid sebaceous carcinoma associated with Muir-Torre syndrome in two cases. (17237705)
2007
20
Cystic sebaceous carcinoma: is it a constant pathognomic marker for Muir-Torre syndrome? (17679191)
2007
21
Sebaceous gland tumors and internal malignancy in the context of Muir-Torre syndrome. A case report and review of the literature. (16466577)
2006
22
The importance of functional testing in the genetic assessment of Muir-Torre syndrome, a clinical subphenotype of HNPCC. (16327991)
2006
23
An illustrative case of Muir-Torre syndrome: contribution of immunohistochemical analysis in identifying indicator sebaceous lesions. (16924054)
2006
24
Muir-Torre syndrome: Diagnostic and screening guidelines. (17034469)
2006
25
Muir-Torre syndrome. (16334928)
2005
26
Muir-Torre syndrome: confirmation of diagnosis by immunohistochemical analysis of cutaneous lesions. (14988697)
2004
27
Muir-Torre syndrome presenting with ileus: a case report. (15285550)
2004
28
Sebaceous gland adenoma of the tarsal conjunctiva in a patient with Muir-Torre syndrome. (13129885)
2003
29
Muir-Torre syndrome and early detection of internal malignancy. (12776718)
2003
30
Cystic sebaceous neoplasms in Muir-Torre syndrome. (12708909)
2003
31
Report of a case of Muir-Torre syndrome. (12482055)
2002
32
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
33
Microsatellite instability and expression of hMLH-1 and hMSH-2 in sebaceous gland carcinomas as markers for Muir-Torre syndrome. (10815898)
2000
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
Sebaceous adenomas with atypical immunohistochemical features in the Muir-Torre syndrome [leter]. (10233335)
1999
37
Cystic sebaceous tumors as marker lesions for the Muir-Torre syndrome: a histopathologic and molecular genetic study. (10535567)
1999
38
The Muir-Torre syndrome: a rare variant of hereditary nonpolyposis colorectal cancer associated with hMSH2 mutation. (9732950)
1998
39
Muir-Torre syndrome. (9641292)
1998
40
Widespread microsatellite instability in sebaceous tumours of patients with the Muir-Torre syndrome. (9349329)
1997
41
Is the mismatch repair deficient type of Muir-Torre syndrome confined to mutations in the hMSH2 gene? (8931714)
1996
42
The genetic basis of Muir-Torre syndrome includes the hMLH1 locus. (8751876)
1996
43
Muir-Torre syndrome and defective DNA mismatch repair genes. (8784301)
1996
44
Muir-Torre syndrome. (7712655)
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:

5
id Gene Variation 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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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 Suite gene sharing:

(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 FMOs36
9.8MLH1, MSH2
3
Show member pathways
9.7MSH2, MSH6
49.5PMS2, MLH1
59.3MSH2, MSH6, MLH1
69.3MSH2, MSH6, MLH1
79.3MSH2, MSH6, MLH1
8
Show member pathways
Signal transduction PTEN pathway59
9.3MSH2, MSH6, MLH1
99.1MLH1, PMS2, MSH2
10
Show member pathways
8.9MLH1, MUTYH, 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 Suite gene sharing:

(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 1 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 60 24 1112.5IFNA2, MLH1, FHIT
21oxygen44 248.9MUTYH, MLH1, FHIT, IFNA2, PMS2
22cisplatin44 50 60 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1MutSalpha complexGO:00323019.7MSH2, MSH6
2nuclear chromosomeGO:00002289.7MSH2, MSH6
3mismatch repair complexGO:00323009.4PMS2, MLH1
4MutLalpha complexGO:00323899.2PMS2, MLH1

Biological processes related to Muir-Torre Syndrome according to GeneCards Suite gene sharing:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1meiotic mismatch repairGO:00007109.9MSH6, MSH2
2maintenance of DNA repeat elementsGO:00435709.8MSH2, MSH6
3positive regulation of helicase activityGO:00510969.8MSH6, MSH2
4negative regulation of DNA recombinationGO:00459109.7MSH2, MSH6
5intrinsic apoptotic signaling pathway in response to DNA damageGO:00086309.7MSH6, MLH1
6determination of adult lifespanGO:00083409.6MSH2, MSH6
7isotype switchingGO:00451909.6MLH1, MSH6, MSH2
8somatic recombination of immunoglobulin gene segmentsGO:00164479.3MSH2, MSH6, PMS2
9reciprocal meiotic recombinationGO:00071319.2MSH6, PMS2, MLH1
10somatic hypermutation of immunoglobulin genesGO:00164469.0MLH1, PMS2, MSH6, MSH2
11DNA repairGO:00062819.0MUTYH, MSH6, MSH2
12ATP catabolic processGO:00062008.9MLH1, PMS2, MSH6, MSH2
13mismatch repairGO:00062988.5MSH2, MSH6, MUTYH, PMS2, MLH1

Molecular functions related to Muir-Torre Syndrome according to GeneCards Suite gene sharing:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1single thymine insertion bindingGO:00321439.9MSH2, MSH6
2single guanine insertion bindingGO:00321429.9MSH2, MSH6
3oxidized purine DNA bindingGO:00323579.9MSH2, MSH6
4four-way junction DNA bindingGO:00004009.8MSH2, MSH6
5mismatched DNA bindingGO:00309839.8MSH2, MSH6
6guanine/thymine mispair bindingGO:00321379.6MSH2, MSH6, MLH1
7ADP bindingGO:00435319.6MSH2, MSH6
8MutLalpha complex bindingGO:00324059.5MUTYH, MSH6, MSH2
9DNA-dependent ATPase activityGO:00080949.4MSH6, MSH2
10single-stranded DNA bindingGO:00036979.3MLH1, PMS2, MSH2
11MutSalpha complex bindingGO:00324079.3MUTYH, PMS2, MLH1
12ATPase activityGO:00168879.0MLH1, PMS2, MSH6, MSH2
13ATP bindingGO:00055248.7MSH2, MSH6, PMS2, MLH1
14protein bindingGO:00055156.9MLH1, PMS2, MUTYH, MSH6, MSH2, IFNA2

Sources for Muir-Torre Syndrome

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet