MCID: MRT001
MIFTS: 56

Muir-Torre Syndrome malady

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

Aliases & Classifications for Muir-Torre Syndrome

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 47Novoseek, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 24GTR, 65UMLS, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Muir-Torre Syndrome:

Name: Muir-Torre Syndrome 49 10 11 45 47 12 51 67 36 24
Keratoacanthoma 45 65
Cutaneous Sebaceous Neoplasms and Keratoacanthomas Multiple with Gastrointestinal and Other Carcinomas 45
Multiple Keratoacanthoma, Muir-Torre Type 51
 
Torre-Muir Syndrome 65
Mrtes 67
Mts 67

Characteristics:

Orphanet epidemiological data:

51
muir-torre syndrome:
Inheritance: Autosomal dominant; Age of onset: Adult

HPO:

61
muir-torre syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 158320
Disease Ontology10 DOID:0050465
MeSH36 D055653
NCIt42 C84905
Orphanet51 587
SNOMED-CT59 403824007
ICD10 via Orphanet28 L72.8
MESH via Orphanet37 D055653
UMLS via Orphanet66 C1321489
MedGen34 C1321489
UMLS65 C1321489

Summaries for Muir-Torre Syndrome

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NIH Rare Diseases:45 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. last updated: 6/11/2015

MalaCards based summary: Muir-Torre Syndrome, also known as keratoacanthoma, is related to mlh1-related muir-torre syndrome and msh2-related muir-torre syndrome, and has symptoms including adenoma sebaceum, neoplasm of the colon and neoplasm of the stomach. An important gene associated with Muir-Torre Syndrome is MSH2 (MutS Homolog 2), and among its related pathways are Busulfan Pathway, Pharmacodynamics and Doxorubicin Pathway, Pharmacokinetics. Affiliated tissues include skin, colon and breast, and related mouse phenotype tumorigenesis.

UniProtKB/Swiss-Prot:67 Muir-Torre syndrome: Rare autosomal dominant disorder characterized by sebaceous neoplasms and visceral malignancy.

Description from OMIM:49 158320

Related Diseases for Muir-Torre Syndrome

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Diseases in the Muir-Torre Syndrome family:

Mlh1-Related Muir-Torre Syndrome Msh2-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 209)
idRelated DiseaseScoreTop Affiliating Genes
1mlh1-related muir-torre syndrome12.7
2msh2-related muir-torre syndrome12.7
3keratoacanthoma12.6
4generalized eruptive keratoacanthoma12.4
5familial keratoacanthoma12.4
6vulvar keratoacanthoma-like carcinoma12.3
7mt-cyb-related recurrent myoglobinuria12.3
8melas, mt-tf-related12.3
9melas, mt-th-related12.3
10melas, mt-tk-related12.3
11melas, mt-tq-related12.3
12mt-tt related parkinson disease susceptibility12.3
13multiple self-healing squamous epithelioma, susceptiblity to11.7
14mohr-tranebjaerg syndrome11.4
15chondrodysplasia punctata, tibia metacarpal type11.3
16alzheimer disease mitochondrial11.3
17hepatitis10.7
18basal cell carcinoma 110.7
19colorectal cancer, hereditary nonpolyposis, type 110.7
20duodenum cancer10.7
21breast cancer10.7
22esophagitis10.6
23autoimmune hepatitis10.5
24critical limb ischemia10.5
25leukemia10.5
26limb ischemia10.5
27lymphoma10.5
28sarcoma10.5
29pseudotumor cerebri10.5
30prostatitis10.5
31cervicitis10.5
32adenocarcinoma10.5
33ischemia10.5
34congenital diaphragmatic hernia10.5
35spasticity10.5
36maternally inherited diabetes and deafness10.5
37neural tube defects10.4
38lung cancer10.4
39prostate cancer10.4
40coronary artery disease10.4
41esophageal cancer10.4
42hepatitis c virus10.4
43myelodysplastic syndrome10.4
44pulmonary alveolar microlithiasis10.4
45pallister-hall syndrome10.4
46cystic fibrosis10.4
47aspergillosis10.4
48mevalonic aciduria10.4
49gastroesophageal reflux10.4
50pseudoxanthoma elasticum10.4

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:

 51 (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 21)
id Description Frequency HPO Source Accession
1 adenoma sebaceum hallmark (90%) HP:0009720
2 neoplasm of the colon typical (50%) HP:0100273
3 neoplasm of the stomach typical (50%) HP:0006753
4 salivary gland neoplasm occasional (7.5%) HP:0100684
5 ovarian neoplasm occasional (7.5%) HP:0100615
6 neoplasm of the breast occasional (7.5%) HP:0100013
7 uterine neoplasm occasional (7.5%) HP:0010784
8 renal neoplasm occasional (7.5%) HP:0009726
9 hematological neoplasm occasional (7.5%) HP:0004377
10 neoplasm of the liver occasional (7.5%) HP:0002896
11 sebaceous gland carcinoma HP:0030410
12 laryngeal carcinoma HP:0012118
13 adenoma sebaceum HP:0009720
14 benign genitourinary tract neoplasm HP:0006778
15 duodenal adenocarcinoma HP:0006771
16 malignant genitourinary tract tumor HP:0006758
17 benign gastrointestinal tract tumors HP:0006719
18 colon cancer HP:0003003
19 breast carcinoma HP:0003002
20 basal cell carcinoma HP:0002671
21 colonic diverticula HP:0002253

Drugs & Therapeutics for Muir-Torre Syndrome

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
DabrafenibapprovedPhase 27044462760, 44516822
Synonyms:
BRAF inhibitor GSK2118436
Dabrafenib
Dabrafenib Mesylate
 
GSK2118436
GSK2118436a
Tafinlar
dabrafenib
2
TrametinibapprovedPhase 2111871700-17-311707110
Synonyms:
GSK 1120212
GSK1120212
JTP 74057
JTP-74057
 
MEK Inhibitor GSK1120212
Mekinist
Trametinib Dimethyl Sulfoxide
Trametinibum
trametinib
3Protein Kinase InhibitorsPhase 23162
4
Sorafenibapproved, investigational671284461-73-0216239, 406563
Synonyms:
284461-73-0
4(4-{3-[4-Chloro-3-(trifluoromethyl)phenyl]ureido}phenoxy)-N(sup 2)-methylpyridine-2-carboxamide
4-(4-((((4-Chloro-3-(trifluoromethyl)phenyl)amino)carbonyl)amino)phenoxy)-N-methyl-2-pyridinecarboxamide
4-(4-(3-(4-chloro-3-trifluoromethylphenyl)ureido)phenoxy)pyridine-2-carboxyllic acid methyamide-4-methylbenzenesulfonate
4-(4-{3-(4-Chloro-3-(trifluoromethyl)phenyl)ureido}phenoxy)-N(sup 2)-methylpyridine-2-carboxamide
4-[4-({[4-chloro-3-(trifluoromethyl)phenyl]carbamoyl}amino)phenoxy]-N-methylpyridine-2-carboxamide
4-[4-[[4-chloro-3-(trifluoromethyl)phenyl]carbamoylamino]phenoxy]-N-methyl-pyridine-2-carboxamide
4-[4-[[4-chloro-3-(trifluoromethyl)phenyl]carbamoylamino]phenoxy]-N-methylpyridine-2-carboxamide
4-[4-[[[[4-chloro-3-(trifluoromethyl)phenyl]amino]carbonyl]amino]phenoxy]-N-methyl-2-pyridinecarboxamide
4-{4-[({[4-CHLORO-3-(TRIFLUOROMETHYL)PHENYL]AMINO}CARBONYL)AMINO]PHENOXY}-N-METHYLPYRIDINE-2-CARBOXAMIDE
AB1004622
AC-1674
AC1L50CF
BAX
BAY 43-9006
BAY 43-9006 (free base)
BAY 43-9006 tosylate salt
BAY 439006
BAY 54-9085 (tosylate salt)
BAY-43-0006
BAY-43-9006
BAY-54-9085
BAY43-9006
BRD-K23984367-001-01-8
Bio-0100
CHEBI:47228
CHEBI:50924
CHEMBL1336
CID216239
 
D08524
DB00398
DB07438
EN002709
I06-0856
K00597a
Kinome_766
LS-186067
LS-187021
LS-187788
MolPort-003-850-270
N-(4-Chloro-3-(trifluoromethyl)phenyl)-N'-(4-(2-(N-methylcarbamoyl)-4-pyridyloxy)phenyl)urea
N-(4-Chloro-3-(trifluoromethyl)phenyl)-n'-(4-(2-(N-methylcarbamoyl)-4-pyridyloxy)phenyl)urea
N-(4-chloro-3-(trifluoromethyl)phenyl)-N'-(4-(2-(N-methylcar bamoyl)-4-pyridyloxy)phenyl)urea
N-[4-Chloro-3-(trifluoromethyl)phenyl]-N'-[4-[2-(N-methylcarbamoyl)-4-pyridyloxy]phenyl]urea
NCGC00167488-01
NSC-724772
NSC747971
Nexavar
STK627350
Sorafenib
Sorafenib (INN)
Sorafenib Tosylate
Sorafenib [INN]
Sorafenib tosylate
Sorafenibum
UNII-9ZOQ3TZI87
ZINC01493878
nchembio.117-comp17
sorafenib
sorafenibum

Interventional clinical trials:

idNameStatusNCT IDPhase
1Phase II Biomarker Study Comparing the Combination of BRAF Inhibitor Dabrafenib With MEK Inhibitor Trametinib Versus the Combination After Monotherapy With Dabrafenib or TrametinibRecruitingNCT02314143Phase 2
2A Pilot Study of Trientine With Vemurafenib for the Treatment BRAF Mutated Metastatic MelanomaWithdrawnNCT02068079Phase 1
3Prospective, Non-interventional, Post-authorization Safety Study That Includes All Patients Diagnosed as Unresectable Differentiated Thyroid Carcinoma and Treated With SorafenibRecruitingNCT02185560

Search NIH Clinical Center for Muir-Torre Syndrome


Cochrane evidence based reviews: muir-torre syndrome

Genetic Tests for Muir-Torre Syndrome

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Anatomical Context for Muir-Torre Syndrome

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MalaCards organs/tissues related to Muir-Torre Syndrome:

33
Skin, Colon, Breast, Liver, Salivary gland, Kidney, Ovary

Animal Models for Muir-Torre Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Muir-Torre Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.5MLH1, MSH2, MSH6, MUTYH, PMS1, PMS2

Publications for Muir-Torre Syndrome

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Articles related to Muir-Torre Syndrome:

(show top 50)    (show all 178)
idTitleAuthorsYear
1
Utility of BAP1 Immunohistochemistry and p16 (CDKN2A) FISH in the Diagnosis of Malignant Mesothelioma in Effusion Cytology Specimens. (26448191)
2016
2
Pediatric Resident Attitudes and Knowledge of Critical Congenital Heart Disease Screening. (27160097)
2016
3
The molecular balancing act of p16(INK4a) in cancer and aging. (24136988)
2014
4
What carers and family said about music therapy on behaviours of older people with dementia in residential aged care. (25399513)
2014
5
Solution structure of the ubiquitin-associated (UBA) domain of human autophagy receptor NBR1 and its interaction with ubiquitin and polyubiquitin. (24692539)
2014
6
Suppression of tumor necrosis factor receptor-associated protein 1 expression induces inhibition of cell proliferation and tumor growth in human esophageal cancer cells. (24754231)
2014
7
Internal tandem duplication mutations in FLT3 gene augment chemotaxis to Cxcl12 protein by blocking the down-regulation of the Rho-associated kinase via the Cxcl12/Cxcr4 signaling axis. (25237195)
2014
8
Single nucleotide polymorphisms in the NER pathway and clinical outcome of patients with bone malignant tumors. (23679317)
2013
9
Nicotine induces alteration of H3K27 demethylase UTX in kidney cancer cell. (23925944)
2013
10
Assessing phospholipase A2 activity toward cardiolipin by mass spectrometry. (23533611)
2013
11
S100P-binding protein, S100PBP, mediates adhesion through regulation of cathepsin Z in pancreatic cancer cells. (22330678)
2012
12
Rap1GAP alters leukemia cell differentiation, apoptosis and invasion inA vitro. (22614916)
2012
13
Long-term results of the amplatzer cribriform occluder for patent foramen ovale with associated atrial septal aneurysm: impact on occlusion rate and left atrial functional remodelling. (22254216)
2012
14
The prognostic significance of TP53 mutations in Chinese patients with chronic lymphocytic leukemia is independent of del(17p13). (21113594)
2011
15
Prothrombin gene G20210A mutation and obstetric complications. (20027028)
2010
16
Role of protein misfolding in DFNA9 hearing loss. (20228067)
2010
17
Alport syndrome: significance of gingival biopsy in the initial diagnosis and periodontal evaluation after renal transplantation. (20027438)
2009
18
Brugada syndrome, more than meets the eye? (19279521)
2009
19
Molecular identification and characterization of the dog motilin receptor. (17870192)
2008
20
Molecular features of breast cancer predictive of lymph node metastases]. (18604396)
2008
21
Decreased expression of intelectin 1 in the human airway epithelium of smokers compared to nonsmokers. (18832735)
2008
22
3D visualization and simulation of frontoorbital advancement in metopic synostosis. (17701413)
2007
23
High-dose pantoprazole continuous infusion is superior to somatostatin after endoscopic hemostasis in patients with peptic ulcer bleeding. (17378909)
2007
24
The diagnosis and treatment of hepatopulmonary syndrome. (16971268)
2006
25
Stromal fibroblasts in cancer: a novel tumor-promoting cell type. (16880743)
2006
26
Common signaling pathway is used by the trans-interaction of Necl-5/Tage4/PVR/CD155 and nectin, and of nectin and nectin during the formation of cell-cell adhesion. (16128743)
2005
27
In vivo effects of chronic contamination with depleted uranium on CYP3A and associated nuclear receptors PXR and CAR in the rat. (16039771)
2005
28
Involvement of drinking and intestinal sodium absorption in hyponatremic effect of atrial natriuretic peptide in seawater eels. (15684587)
2005
29
Alpha-conotoxins ImI and ImII target distinct regions of the human alpha7 nicotinic acetylcholine receptor and distinguish human nicotinic receptor subtypes. (15609996)
2004
30
GSTM1 null genotype as a risk factor for anti-BPDE-DNA adduct formation in mononuclear white blood cells of coke-oven workers. (15036119)
2004
31
The role of the breast cancer susceptibility gene 1 (BRCA1) in sporadic epithelial ovarian cancer. (14613551)
2003
32
Legionnaires' disease: a rational approach to therapy. (12668578)
2003
33
The role of transferrin saturation as a screening test for hereditary haemochromatosis in an Irish population seeking medical care. (12662406)
2003
34
Modelling autoimmune rheumatic disease: a likelihood rationale. (12828565)
2003
35
Comparing the effects of five different statins on the HDL subpopulation profiles of coronary heart disease patients. (12204809)
2002
36
New perspectives in the management of cranio-mandibular ankylosis. (11071234)
2000
37
Aortitis due to Salmonella: report of 10 cases and comprehensive review of the literature. (10589904)
1999
38
Peroxynitrite reacts with methemoglobin to generate globin-bound free radical species. Implications for vascular injury. (9889893)
1998
39
Procalcitonin is a marker of severity of renal lesions in pyelonephritis. (9832579)
1998
40
Hemopoietic growth and inhibitory factors in treatment of malignancies. A review. (7605652)
1995
41
Effects of aluminum on neuronal signal transduction: mechanisms underlying disruption of phosphoinositide hydrolysis. (7557263)
1995
42
Do radionuclide and echocardiographic techniques give a universal cut off value for left ventricular ejection fraction that can be used to select patients for treatment with ACE inhibitors after myocardial infarction? (7786663)
1995
43
Gastric ulcer treatment with intravenous human epidermal growth factor: a double-blind controlled clinical study. (7881024)
1994
44
Immunoglobulin A antibody to a 200-kilodalton cytosolic acetaldehyde adduct in alcoholic hepatitis. (1451979)
1992
45
Human immunodeficiency virus induces phosphorylation of its cell surface receptor. (3259291)
1988
46
Epicanthal folds and blepharophimosis: a new technique. (3256097)
1988
47
Prevalence and severity of xerophthalmia in southern Malawi. (3489409)
1986
48
Pars planitis. (6963826)
1981
49
Testicular agenesis in a boy with XY-XYY mosaicism. (5308381)
1969
50
Cases of Placenta Praevia, with Observations. (20794394)
1848

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)duplicationPathogenicrs587776529GRCh37Chr 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:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.9MLH1, MSH2
2
Show member pathways
9.9MLH1, MSH2
39.6MLH1, MSH5
4
Show member pathways
9.5MLH1, MSH2, MSH6
59.5MLH1, MSH2, MSH6
69.5MLH1, MSH2, MSH6
79.5MLH1, MSH2, PMS2
89.1MLH1, MSH2, MSH6, PMS2
9
Show member pathways
8.7MLH1, MSH2, MSH6, MUTYH, PMS2
10
Show member pathways
8.6MLH1, MSH2, MSH6, PMS1, PMS2

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
1chiasmaGO:00057129.6MLH1, PMS1

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

idNameGO IDScoreTop Affiliating Genes
1somatic recombination of immunoglobulin genes involved in immune responseGO:000220410.4MLH1, MSH2
2somatic recombination of immunoglobulin gene segmentsGO:001644710.4MLH1, MSH2
3negative regulation of DNA recombinationGO:004591010.2MSH2, MSH6
4DNA repairGO:00062819.5MLH1, MSH2, MSH6

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1guanine/thymine mispair bindingGO:003213710.5MSH2, MSH6
2single thymine insertion bindingGO:003214310.5MSH2, MSH6
3ADP bindingGO:004353110.3MSH2, MSH6
4double-stranded DNA bindingGO:000369010.1MSH2, MSH6
5single-stranded DNA bindingGO:00036979.0MLH1, MSH2, PMS1, PMS2
6ATP bindingGO:00055248.9MSH2, MSH5, PMS1, PMS2
7DNA bindingGO:00036778.5MSH2, MSH6, MUTYH, PMS1, PMS2

Sources for Muir-Torre Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet