MCID: MRT001
MIFTS: 58

Muir-Torre Syndrome

Categories: Genetic diseases, Rare diseases, Eye diseases, Gastrointestinal diseases, Skin diseases, Cancer diseases

Aliases & Classifications for Muir-Torre Syndrome

MalaCards integrated aliases for Muir-Torre Syndrome:

Name: Muir-Torre Syndrome 57 12 53 59 75 13 55 44 15 40 29 6
Keratoacanthoma 53 73
Mrtes 57 75
Cutaneous Sebaceous Neoplasms and Keratoacanthomas, Multiple, with Gastrointestinal and Other Carcinomas 57
Cutaneous Sebaceous Neoplasms and Keratoacanthomas Multiple with Gastrointestinal and Other Carcinomas 53
Multiple Keratoacanthoma, Muir-Torre Type 59
Torre-Muir Syndrome 73
Mts 75

Characteristics:

Orphanet epidemiological data:

59
muir-torre syndrome
Inheritance: Autosomal dominant; Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
muir-torre syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 158320
Disease Ontology 12 DOID:0050465
MeSH 44 D055653
NCIt 50 C84905
SNOMED-CT 68 403824007
Orphanet 59 ORPHA587
MESH via Orphanet 45 D055653
UMLS via Orphanet 74 C1321489
ICD10 via Orphanet 34 L72.8
MedGen 42 C1321489
UMLS 73 C1321489

Summaries for Muir-Torre Syndrome

NIH Rare Diseases : 53 Muir-Torre syndrome (MTS) is a form of Lynch syndrome and is characterized by sebaceous (oil gland) skin tumors in association with internal cancers. The most common internal site involved is the gastrointestinal tract (with almost half of affected people having colorectal cancer), followed by the genitourinary tract. Skin lesions may develop before or after the diagnosis of the internal cancer. MTS is caused by changes (mutations) in the MLH1 or MSH2 genes and is inherited in an autosomal dominant manner. A mutation in either of these genes gives a person an increased lifetime risk of developing the skin changes and types of cancer associated with the condition.

MalaCards based summary : Muir-Torre Syndrome, also known as keratoacanthoma, is related to keratoacanthoma and adenoma, and has symptoms including exanthema and pruritus. An important gene associated with Muir-Torre Syndrome is MSH2 (MutS Homolog 2), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Pathways in cancer. The drugs Azathioprine and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include skin, colon and liver, and related phenotypes are colon cancer and breast carcinoma

UniProtKB/Swiss-Prot : 75 Muir-Torre syndrome: Rare autosomal dominant disorder characterized by sebaceous neoplasms and visceral malignancy.

Wikipedia : 76 Muir–Torre syndrome (MTS) is a rare hereditary, autosomal dominant cancer syndrome that is thought to be... more...

Description from OMIM: 158320

Related Diseases for Muir-Torre Syndrome

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

(show top 50) (show all 97)
# Related Disease Score Top Affiliating Genes
1 keratoacanthoma 30.9 MLH1 MSH2
2 adenoma 30.8 MLH1 MSH2 MUTYH
3 lynch syndrome i 30.5 MLH1 MSH2 MSH6 PMS1 PMS2
4 attenuated familial adenomatous polyposis 30.3 MSH2 MSH6 MUTYH
5 colorectal adenocarcinoma 30.3 MLH1 MSH2 MSH6
6 sebaceous adenoma 30.3 MLH1 MSH2 MSH6 PMS2
7 familial adenomatous polyposis 29.8 MLH1 MSH2 MSH6 MUTYH
8 sebaceous adenocarcinoma 28.6 MLH1 MSH2 MSH6 PMS1 PMS2
9 mismatch repair cancer syndrome 28.5 MLH1 MSH2 MSH6 PMS1 PMS2
10 lynch syndrome 28.3 MLH1 MSH2 MSH6 MUTYH PMS1 PMS2
11 colorectal cancer 26.6 FHIT IFNA2 MLH1 MSH2 MSH6 MUTYH
12 mohr-tranebjaerg syndrome 11.7
13 basal cell carcinoma 1 11.6
14 diabetes and deafness, maternally inherited 11.3
15 may-thurner syndrome 11.2
16 chondrodysplasia punctata, tibia-metacarpal type 10.9
17 alzheimer disease mitochondrial 10.9
18 myoglobinuria, recurrent 10.9
19 acrocallosal syndrome 10.8
20 cardiomyopathy, infantile histiocytoid 10.8
21 myoclonic epilepsy associated with ragged-red fibers 10.8
22 joubert syndrome 2 10.8
23 joubert syndrome 6 10.8
24 joubert syndrome 14 10.8
25 joubert syndrome 32 10.8
26 lower lip cancer 10.6 MLH1 MSH2
27 anal fistula 10.5 MLH1 MSH2
28 adenocarcinoma 10.5
29 polyposis syndrome, hereditary mixed, 1 10.5 MLH1 MUTYH
30 gastric leiomyoma 10.5 MLH1 MSH6
31 melanocytic nevus syndrome, congenital 10.4 MLH1 MSH2
32 childhood kidney cell carcinoma 10.4 MLH1 MSH2
33 legius syndrome 10.3 MSH2 MSH6
34 glioma susceptibility 1 10.3
35 glioblastoma multiforme 10.3
36 glioblastoma 10.3
37 skin benign neoplasm 10.2 MLH1 MSH2 MSH6
38 small intestine cancer 10.2 MLH1 MSH2 MUTYH
39 gastrointestinal system benign neoplasm 10.2 MLH1 MUTYH
40 intestinal benign neoplasm 10.2 MLH1 MSH2 MUTYH
41 sarcoma 10.2
42 acanthoma 10.2
43 transitional cell carcinoma 10.2
44 familial colorectal cancer 10.2 MLH1 MSH2 MUTYH
45 colorectal adenoma 10.2 MLH1 MSH2 MUTYH
46 atypical polypoid adenomyoma 10.2 MLH1 PMS1
47 rectal neoplasm 10.1 MLH1 MSH2 MUTYH
48 cecal benign neoplasm 10.1 MUTYH PMS1
49 breast cancer 10.0
50 small cell cancer of the lung 10.0

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



Diseases related to Muir-Torre Syndrome

Symptoms & Phenotypes for Muir-Torre Syndrome

Symptoms via clinical synopsis from OMIM:

57
Neoplasia:
colon cancer
laryngeal carcinoma
basal cell carcinoma
benign gastrointestinal tract tumors
breast cancer
more
Skin Nails Hair Skin:
sebaceous gland tumors
keratoacanthomas

Abdomen Gastrointestinal:
colonic diverticula (early onset)


Clinical features from OMIM:

158320

Human phenotypes related to Muir-Torre Syndrome:

59 32 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 colon cancer 59 32 frequent (33%) Frequent (79-30%) HP:0003003
2 breast carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0003002
3 adenoma sebaceum 59 32 hallmark (90%) Very frequent (99-80%) HP:0009720
4 endometrial carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0012114
5 neoplasm of the liver 59 32 occasional (7.5%) Occasional (29-5%) HP:0002896
6 hematological neoplasm 59 32 occasional (7.5%) Occasional (29-5%) HP:0004377
7 neoplasm of the stomach 59 32 frequent (33%) Frequent (79-30%) HP:0006753
8 malignant genitourinary tract tumor 59 32 occasional (7.5%) Occasional (29-5%) HP:0006758
9 renal neoplasm 59 32 occasional (7.5%) Occasional (29-5%) HP:0009726
10 laryngeal carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0012118
11 salivary gland neoplasm 59 32 occasional (7.5%) Occasional (29-5%) HP:0100684
12 neoplasm of the skin 59 Very frequent (99-80%)
13 colonic diverticula 32 HP:0002253
14 basal cell carcinoma 32 HP:0002671
15 benign gastrointestinal tract tumors 32 HP:0006719
16 duodenal adenocarcinoma 32 HP:0006771
17 benign genitourinary tract neoplasm 32 HP:0006778
18 sebaceous gland carcinoma 32 HP:0030410

UMLS symptoms related to Muir-Torre Syndrome:


exanthema, pruritus

GenomeRNAi Phenotypes related to Muir-Torre Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.1 MLH1 MSH2 MSH6 MUTYH PMS1 PMS2

MGI Mouse Phenotypes related to Muir-Torre Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 9.17 FHIT MLH1 MSH2 MSH6 MUTYH PMS1

Drugs & Therapeutics for Muir-Torre Syndrome

Drugs for Muir-Torre Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 34)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Azathioprine Approved Phase 4 446-86-6 2265
2
Everolimus Approved Phase 4 159351-69-6 6442177
3
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
4
Mycophenolate mofetil Approved, Investigational Phase 4 128794-94-5 5281078
5
Mycophenolic acid Approved Phase 4 24280-93-1 446541
6
Sirolimus Approved, Investigational Phase 4 53123-88-9 5284616 6436030 46835353
7
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492
8 Cyclosporins Phase 4
9 Anti-Bacterial Agents Phase 4
10 Antibiotics, Antitubercular Phase 4
11 Antifungal Agents Phase 4
12 Anti-Infective Agents Phase 4
13 Calcineurin Inhibitors Phase 4
14 Immunosuppressive Agents Phase 4
15
Dabrafenib Approved, Investigational Phase 3,Phase 2 1195765-45-7 44462760 44516822
16
Trametinib Approved Phase 3,Phase 2 871700-17-3 11707110
17 Protein Kinase Inhibitors Phase 3,Phase 2
18
nivolumab Approved Phase 2 946414-94-4
19 Antibodies Phase 2
20 Antibodies, Monoclonal Phase 2
21 Immunoglobulins Phase 2
22
Sorafenib Approved, Investigational 284461-73-0 216239 406563
23
Methotrexate Approved 1959-05-2, 59-05-2 126941
24
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
25
Niacin Approved, Investigational, Nutraceutical 59-67-6 938
26
Nicotinamide Approved, Investigational, Nutraceutical 98-92-0 936
27 Micronutrients
28 Nicotinic Acids
29 Trace Elements
30 Vitamin B Complex
31 Vitamins
32 Folate Nutraceutical
33 Vitamin B3 Nutraceutical
34 Vitamin B9 Nutraceutical

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prevention of Skin Cancer in High Risk Patients After Conversion to a Sirolimus-based Immunosuppressive Protocol Terminated NCT01797315 Phase 4 Sirolimus
2 A Study Comparing Trametinib and Dabrafenib Combination Therapy to Dabrafenib Monotherapy in Subjects With BRAF-mutant Melanoma Active, not recruiting NCT01584648 Phase 3 dabrafenib;dabrafenib plus trametinib placebo;Trametinib
3 Phase II Biomarker Study Comparing the Combination of BRAF Inhibitor Dabrafenib With MEK Inhibitor Trametinib Versus the Combination After Monotherapy With Dabrafenib or Trametinib Completed NCT02314143 Phase 2 Dabrafenib;Trametinib
4 Talimogene Laherparepvec and Nivolumab in Treating Patients With Refractory Lymphomas or Advanced or Refractory Non-melanoma Skin Cancers Recruiting NCT02978625 Phase 2
5 A Pilot Study of Trientine With Vemurafenib for the Treatment BRAF Mutated Metastatic Melanoma Withdrawn NCT02068079 Phase 1 Vemurafenib and Trientine
6 Tolerance of Targeted Therapy Used in Metastatic Melanoma in Patients Aged Over 65 and 75-year-old Recruiting NCT03155217
7 Prospective, Non-interventional, Post-authorization Safety Study That Includes All Patients Diagnosed as Unresectable Differentiated Thyroid Carcinoma and Treated With Sorafenib Recruiting NCT02185560 Sorafenib (Nexavar, BAY43-9006)
8 Assessing the Long Term Effectiveness and Safety of Biotherapies in the Treatment of Cutaneous Psoriasis Recruiting NCT01617018

Search NIH Clinical Center for Muir-Torre Syndrome

Cochrane evidence based reviews: muir-torre syndrome

Genetic Tests for Muir-Torre Syndrome

Genetic tests related to Muir-Torre Syndrome:

# Genetic test Affiliating Genes
1 Muir-Torré Syndrome 29 MLH1 MSH2

Anatomical Context for Muir-Torre Syndrome

MalaCards organs/tissues related to Muir-Torre Syndrome:

41
Skin, Colon, Liver, Eye, Thyroid, Salivary Gland, Testes

Publications for Muir-Torre Syndrome

Articles related to Muir-Torre Syndrome:

(show top 50) (show all 210)
# Title Authors Year
1
Postradiation Histiocytic Sarcoma in the Setting of Muir-Torre Syndrome. ( 29850341 )
2018
2
Muir-Torre syndrome. ( 29789146 )
2018
3
Sebaceous Neoplasms With Rippled, Labyrinthine/Sinusoidal, Petaloid, and Carcinoid-Like Patterns: A Study of 57 Cases Validating Their Occurrence as a Morphological Spectrum and Showing No Significant Association With Muir-Torre Syndrome or DNA Mismatch Repair Protein Deficiency. ( 29924747 )
2018
4
Muir-Torre Syndrome: A Case Report in a Woman Without Personal Cancer History. ( 29933315 )
2018
5
Impact of Muir-Torre Syndrome on Survival in Patients With Sebaceous Carcinoma: A SEER Population-Based Study. ( 29578884 )
2018
6
Therapy-associated myelodysplastic syndrome with monosomy 7 arising in a Muir-Torre Syndrome patient carrying<i>SETBP1</i>mutation. ( 29435294 )
2018
7
Muir-Torre syndrome: multiple sebaceous neoplasms and visceral malignancy manifesting after cardiac transplantation and iatrogenic immunosuppression. ( 27868185 )
2017
8
Review of the current medical literature and assessment of current utilization patterns regarding mismatch repair protein immunohistochemistry in cutaneous Muir-Torre syndrome-associated neoplasms. ( 28749576 )
2017
9
MSH6, Past and Present and Muir-Torre Syndrome-Connecting the Dots. ( 28323777 )
2017
10
Lynch Syndrome and Muir-Torre Syndrome: An update and review on the genetics, epidemiology, and management of two related disorders. ( 29447627 )
2017
11
Usefulness of PET/CT for early detection of internal malignancies in patients with Muir-Torre syndrome: report of two cases. ( 28537014 )
2017
12
A case report of Muir-Torre syndrome in a woman with breast cancer and MSI-Low skin squamous cell carcinoma. ( 28507641 )
2017
13
Analysis of Sebaceous Neoplasms for DNA Mismatch Repair Proteins in Muir-Torre Syndrome. ( 28859734 )
2017
14
A possible association between mycosis fungoides and Muir-Torre syndrome: Two disorders with microsatellite instability. ( 28761921 )
2017
15
Muir-Torre syndrome caused by exonic deletion of MLH1 due to homologous recombination. ( 28120777 )
2017
16
Cutaneous Sebaceous Lesions in a Patient With MUTYH-Associated Polyposis Mimicking Muir-Torre Syndrome. ( 27870730 )
2016
17
Generational Expression of Muir-Torre Syndrome in a Canadian Family. ( 27822395 )
2016
18
Aggressive Extraocular Sebaceous Carcinoma of the Scalp Involving the Brain in a Patient With Muir-Torre Syndrome. ( 26779764 )
2016
19
Role of microsatellite instability, immunohistochemistry and mismatch repair germline aberrations in immunosuppressed transplant patients: a phenocopy dilemma in Muir-Torre syndrome. ( 27016151 )
2016
20
Sebaceous adenomas in the absence of Muir-Torre syndrome. ( 27769341 )
2016
21
Muir-Torre syndrome (MTS): An update and approach to diagnosis and management. ( 26892655 )
2016
22
Muir-Torre Syndrome: A Case Associated with an Infrequent Gene Mutation. ( 26962393 )
2016
23
Urothelial Carcinoma Recurrence in an Ileal Neobladder Nine Years after Primary Surgery with Muir-Torre Syndrome. ( 27123355 )
2016
24
Muir-Torre Syndrome Presenting as Sebaceous Adenocarcinoma and Invasive MSH6-Positive Colorectal Adenocarcinoma. ( 26933426 )
2016
25
Importance of universal mismatch repair protein immunohistochemistry in patients with sebaceous neoplasia as an initial screening tool for Muir-Torre syndrome. ( 26826402 )
2016
26
Universal immunohistochemical screening of sebaceous neoplasms for Muir-Torre syndrome: Putting the cart before the horse? ( 27745640 )
2016
27
Muir-Torre Syndrome Masquerading as Chalazion. ( 26352527 )
2015
28
Parotid Sebaceous Carcinoma in Patient with Muir Torre Syndrome, Caused by MSH2 Mutation. ( 26577210 )
2015
29
Muir-Torre Syndrome and Central Nervous System Malignancy: Highlighting an Uncommon Association. ( 26035046 )
2015
30
Diagnostic error: what Muir-Torre syndrome has taught us. ( 25795746 )
2015
31
Neuromalignancy complicating the Muir-Torre syndrome. ( 26076933 )
2015
32
The role of immunohistochemistry in the Muir-Torre Syndrome. ( 26312706 )
2015
33
Muir-Torre syndrome. ( 26527831 )
2015
34
Somatic MMR Gene Mutations as a Cause for MSI-H Sebaceous Neoplasms in Muir-Torre Syndrome-Like Patients. ( 25504677 )
2015
35
Glioblastoma multiforme as initial internal malignancy in Muir-Torre syndrome (MTS). ( 27051787 )
2015
36
Adenocarcinoma of the cervix associated with a neuroendocrine small cell carcinoma of the cervix in the spectrum of Muir-Torre syndrome. ( 26050364 )
2015
37
FDG-PET-positive lower-extremity sebaceous-gland carcinoma in a patient with Muir-Torre syndrome. ( 27398125 )
2015
38
Muir-Torre Syndrome and founder mismatch repair gene mutations: A long gone historical genetic challenge. ( 26143115 )
2015
39
Sebaceous adenomas of the eyelid and Muir-Torre Syndrome. ( 25595178 )
2015
40
Cystic sebaceous tumour with no evidence of Muir-Torre syndrome. ( 25753622 )
2015
41
Muir-Torre syndrome. ( 25035371 )
2014
42
Fordyce granules and hyperplastic mucosal sebaceous glands as distinctive stigmata in Muir-Torre syndrome patients: characterization with reflectance confocal microscopy. ( 25213213 )
2014
43
Muir-Torre syndrome: case report and molecular characterization. ( 24474082 )
2014
44
The Muir-Torre syndrome: a typical case of misdiagnosis and consequent worsened prognosis. ( 25213586 )
2014
45
Skin lesions with Lynch syndrome could represent Muir-Torre syndrome. ( 24793211 )
2014
46
Sebaceous carcinoma of the eyelid and Muir-Torre syndrome. ( 24969841 )
2014
47
Muir-Torre syndrome or phenocopy? The value of the immunohistochemical expression of mismatch repair proteins in sebaceous tumors of immunocompromised patients. ( 24969397 )
2014
48
Muir-Torre syndrome. ( 25427047 )
2014
49
Synchronous gastric and sebaceous cancers, a rare manifestation of MLH1-related Muir-Torre syndrome. ( 25197397 )
2014
50
Sebaceous hyperplasia of the vulva: a series of cases reporting no association with the Muir-Torre syndrome. ( 24901406 )
2014

Variations for Muir-Torre Syndrome

ClinVar genetic disease variations for Muir-Torre Syndrome:

6
(show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 MSH2 NM_000251.2(MSH2): c.1801C> T (p.Gln601Ter) single nucleotide variant Pathogenic rs63750047 GRCh37 Chromosome 2, 47702205: 47702205
2 MSH2 NM_000251.2(MSH2): c.1801C> T (p.Gln601Ter) single nucleotide variant Pathogenic rs63750047 GRCh38 Chromosome 2, 47475066: 47475066
3 MSH2 NM_000251.2(MSH2): c.269_290dup22 (p.Tyr98Argfs) duplication Pathogenic rs587776529 GRCh37 Chromosome 2, 47635597: 47635618
4 MSH2 NM_000251.2(MSH2): c.269_290dup22 (p.Tyr98Argfs) duplication Pathogenic rs587776529 GRCh38 Chromosome 2, 47408458: 47408479
5 MSH2 MSH2, 32-KB DEL, EX1-6 deletion Pathogenic
6 MLH1 MLH1, 370-BP DEL deletion Pathogenic
7 MLH1 NM_000249.3(MLH1): c.1943C> T (p.Pro648Leu) single nucleotide variant Pathogenic rs63750610 GRCh37 Chromosome 3, 37090054: 37090054
8 MLH1 NM_000249.3(MLH1): c.1943C> T (p.Pro648Leu) single nucleotide variant Pathogenic rs63750610 GRCh38 Chromosome 3, 37048563: 37048563
9 MSH2 NM_000251.2(MSH2): c.383T> G (p.Leu128Arg) single nucleotide variant Uncertain significance rs730881768 GRCh38 Chromosome 2, 47410110: 47410110
10 MSH2 NM_000251.2(MSH2): c.383T> G (p.Leu128Arg) single nucleotide variant Uncertain significance rs730881768 GRCh37 Chromosome 2, 47637249: 47637249
11 MLH1 NM_000249.3(MLH1): c.1243G> A (p.Asp415Asn) single nucleotide variant Uncertain significance rs373767220 GRCh38 Chromosome 3, 37025841: 37025841
12 MLH1 NM_000249.3(MLH1): c.1243G> A (p.Asp415Asn) single nucleotide variant Uncertain significance rs373767220 GRCh37 Chromosome 3, 37067332: 37067332
13 MSH2 NM_000251.2(MSH2): c.376G> A (p.Gly126Ser) single nucleotide variant Uncertain significance rs767371843 GRCh37 Chromosome 2, 47637242: 47637242
14 MSH2 NM_000251.2(MSH2): c.376G> A (p.Gly126Ser) single nucleotide variant Uncertain significance rs767371843 GRCh38 Chromosome 2, 47410103: 47410103

Expression for Muir-Torre Syndrome

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

Pathways for Muir-Torre Syndrome

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

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.77 MLH1 MSH2 MSH6 MUTYH PMS2
2 12.45 IFNA2 MLH1 MSH2 MSH6
3 12.03 MLH1 MSH2 MSH6 MUTYH
4 11.8 MLH1 MSH2 MSH6
5 11.62 MLH1 MSH2 PMS2
6 11.2 MLH1 MSH2 MSH6
7 11.16 MSH2 MSH6
8
Show member pathways
11.12 MLH1 MSH2
9
Show member pathways
11.06 MLH1 MSH2
10
Show member pathways
11.01 MLH1 MSH2 MSH6 PMS1 PMS2
11 10.72 MLH1 MSH2 MSH6 PMS2

GO Terms for Muir-Torre Syndrome

Cellular components related to Muir-Torre Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 MutSalpha complex GO:0032301 9.16 MSH2 MSH6
2 MutLalpha complex GO:0032389 9.13 MLH1 PMS1 PMS2
3 mismatch repair complex GO:0032300 9.02 MLH1 MSH2 MSH6 PMS1 PMS2

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.8 MLH1 MSH2 MSH6 MUTYH PMS1 PMS2
2 DNA repair GO:0006281 9.73 MLH1 MSH2 MSH6 MUTYH PMS1 PMS2
3 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.61 MLH1 MSH2 MSH6
4 determination of adult lifespan GO:0008340 9.55 MSH2 MSH6
5 positive regulation of isotype switching to IgG isotypes GO:0048304 9.54 MLH1 MSH2
6 isotype switching GO:0045190 9.54 MLH1 MSH2 MSH6
7 positive regulation of helicase activity GO:0051096 9.52 MSH2 MSH6
8 negative regulation of DNA recombination GO:0045910 9.51 MSH2 MSH6
9 maintenance of DNA repeat elements GO:0043570 9.49 MSH2 MSH6
10 positive regulation of isotype switching to IgA isotypes GO:0048298 9.48 MLH1 MSH2
11 meiotic mismatch repair GO:0000710 9.46 MSH2 MSH6
12 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.4 MLH1 MSH2
13 somatic recombination of immunoglobulin gene segments GO:0016447 9.33 MLH1 MSH2 MSH6
14 somatic hypermutation of immunoglobulin genes GO:0016446 9.26 MLH1 MSH2 MSH6 PMS2
15 mismatch repair GO:0006298 9.1 MLH1 MSH2 MSH6 MUTYH PMS1 PMS2

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.93 MLH1 MSH2 MSH6 PMS1 PMS2
2 ATPase activity GO:0016887 9.8 MLH1 MSH2 MSH6 PMS1 PMS2
3 single-stranded DNA binding GO:0003697 9.73 MLH1 MSH2 PMS1 PMS2
4 damaged DNA binding GO:0003684 9.55 MSH2 MSH6
5 oxidized purine DNA binding GO:0032357 9.54 MSH2 MSH6 MUTYH
6 DNA-dependent ATPase activity GO:0008094 9.52 MSH2 MSH6
7 ADP binding GO:0043531 9.51 MSH2 MSH6
8 MutLalpha complex binding GO:0032405 9.5 MSH2 MSH6 MUTYH
9 four-way junction DNA binding GO:0000400 9.49 MSH2 MSH6
10 single guanine insertion binding GO:0032142 9.48 MSH2 MSH6
11 single thymine insertion binding GO:0032143 9.46 MSH2 MSH6
12 MutSalpha complex binding GO:0032407 9.43 MLH1 MUTYH PMS2
13 guanine/thymine mispair binding GO:0032137 9.33 MLH1 MSH2 MSH6
14 single base insertion or deletion binding GO:0032138 9.13 MSH2 MSH6 PMS2
15 mismatched DNA binding GO:0030983 9.02 MLH1 MSH2 MSH6 PMS1 PMS2

Sources for Muir-Torre Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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