MCID: MRT001
MIFTS: 58

Muir-Torre Syndrome malady

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

Aliases & Classifications for Muir-Torre Syndrome

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Muir-Torre Syndrome:

Name: Muir-Torre Syndrome 51 11 47 53 69 26 12 49 38 13
Keratoacanthoma 47 67
Cutaneous Sebaceous Neoplasms and Keratoacanthomas Multiple with Gastrointestinal and Other Carcinomas 47
Multiple Keratoacanthoma, Muir-Torre Type 53
 
Torre-Muir Syndrome 67
Mrtes 69
Mts 69

Characteristics:

Orphanet epidemiological data:

53
muir-torre syndrome:
Inheritance: Autosomal dominant; Age of onset: Adult

HPO:

63
muir-torre syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 158320
Disease Ontology11 DOID:0050465
MeSH38 D055653
NCIt44 C84905
Orphanet53 ORPHA587
SNOMED-CT61 403824007
MESH via Orphanet39 D055653
UMLS via Orphanet68 C1321489
ICD10 via Orphanet30 L72.8
MedGen36 C1321489

Summaries for Muir-Torre Syndrome

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NIH Rare Diseases:47 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 colorectal cancer and mlh1-related muir-torre syndrome, and has symptoms including adenoma sebaceum, neoplasm of the stomach and neoplasm of the colon. 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 liver, and related mouse phenotype neoplasm.

UniProtKB/Swiss-Prot:69 Muir-Torre syndrome: Rare autosomal dominant disorder characterized by sebaceous neoplasms and visceral malignancy.

Description from OMIM:51 158320

Related Diseases for Muir-Torre Syndrome

About this section

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 95)
idRelated DiseaseScoreTop Affiliating Genes
1colorectal cancer28.3IFNA2, MLH1, MSH2, MSH6, MUTYH, PMS1
2mlh1-related muir-torre syndrome12.3
3msh2-related muir-torre syndrome12.2
4mt-cyb-related recurrent myoglobinuria11.7
5melas, mt-tf-related11.7
6melas, mt-th-related11.7
7melas, mt-tk-related11.7
8melas, mt-tq-related11.7
9mt-tt related parkinson disease susceptibility11.7
10basal cell carcinoma 111.2
11colorectal cancer, hereditary nonpolyposis, type 111.2
12duodenum cancer11.2
13diabetes and deafness, maternally inherited10.9
14mohr-tranebjaerg syndrome10.9
15joubert syndrome 1410.8
16joubert syndrome 610.8
17joubert syndrome 210.8
18acrocallosal syndrome10.8
19chondrodysplasia punctata, tibia-metacarpal type10.7
20alzheimer disease mitochondrial10.7
21adenoma10.5
22adenocarcinoma10.4
23sebaceous adenoma10.4
24angioimmunoblastic lymphadenopathy with dysproteinemia10.3MLH1, MSH2
25keratoacanthoma10.3
26pityriasis rosea10.3MLH1, MSH2
27cervical adenomyoma10.3MLH1, MSH2
28sleeping sickness10.2MLH1, MSH6
29hyperaldosteronism10.2MLH1, MSH2
30glioblastoma multiforme10.2
31lynch syndrome10.2
32glioblastoma10.2
33spleen angiosarcoma10.2MLH1, MSH2, MSH6
34acute perichondritis of pinna10.2MSH2, PMS1
35solitary bone cyst10.2MLH1, MSH2, MSH6
36optic papillitis10.1MLH1, MSH2, MSH6
37colver steer godman syndrome10.1MLH1, MSH2, MUTYH
38acanthoma10.1
39transitional cell carcinoma10.1
40acquired amegakaryocytic thrombocytopenia10.1MSH2, MSH6, MUTYH
41trachea sarcoma10.1MLH1, MSH2, MSH6
42gastrointestinal neuroendocrine tumor10.1MLH1, MUTYH
43periapical granuloma10.1MLH1, MSH2, MUTYH
44dysostosis10.1MLH1, MSH2, MSH6
45congenital hypomyelination neuropathy10.1MLH1, MSH2, MUTYH
46prostate embryonal rhabdomyosarcoma10.0MSH2, MSH6, PMS2
47lung cancer10.0
48hepatitis10.0
49small cell carcinoma10.0
50colorectal adenocarcinoma10.0

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

Human phenotypes related to Muir-Torre Syndrome:

 63 53 (show all 22)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 adenoma sebaceum63 53 hallmark (90%) Very frequent (99-80%) HP:0009720
2 neoplasm of the stomach63 53 typical (50%) Frequent (79-30%) HP:0006753
3 neoplasm of the colon63 typical (50%) HP:0100273
4 neoplasm of the liver63 53 occasional (7.5%) Occasional (29-5%) HP:0002896
5 hematological neoplasm63 53 occasional (7.5%) Occasional (29-5%) HP:0004377
6 renal neoplasm63 53 occasional (7.5%) Occasional (29-5%) HP:0009726
7 uterine neoplasm63 occasional (7.5%) HP:0010784
8 neoplasm of the breast63 occasional (7.5%) HP:0100013
9 ovarian neoplasm63 occasional (7.5%) HP:0100615
10 salivary gland neoplasm63 53 occasional (7.5%) Occasional (29-5%) HP:0100684
11 colonic diverticula63 HP:0002253
12 basal cell carcinoma63 HP:0002671
13 breast carcinoma63 53 Occasional (29-5%) HP:0003002
14 colon cancer63 53 Frequent (79-30%) HP:0003003
15 benign gastrointestinal tract tumors63 HP:0006719
16 malignant genitourinary tract tumor63 53 Occasional (29-5%) HP:0006758
17 duodenal adenocarcinoma63 HP:0006771
18 benign genitourinary tract neoplasm63 HP:0006778
19 laryngeal carcinoma63 53 Occasional (29-5%) HP:0012118
20 sebaceous gland carcinoma63 HP:0030410
21 neoplasm of the skin53 Very frequent (99-80%)
22 endometrial carcinoma53 Occasional (29-5%)

UMLS symptoms related to Muir-Torre Syndrome:


exanthema, pruritus, skin manifestations

Drugs & Therapeutics for Muir-Torre Syndrome

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

(show all 19)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
DabrafenibapprovedPhase 27944462760, 44516822
Synonyms:
BRAF inhibitor GSK2118436
Dabrafenib
 
GSK2118436
GSK2118436a
Tafinlar
dabrafenib
2
TrametinibapprovedPhase 2121871700-17-311707110
Synonyms:
GSK 1120212
GSK1120212
JTP 74057
JTP-74057
 
MEK Inhibitor GSK1120212
Mekinist
Trametinib Dimethyl Sulfoxide
Trametinibum
trametinib
3
nivolumabapprovedPhase 2326946414-94-4
Synonyms:
BMS-936558
 
MDX-1106
ONO-4538
nivolumab
4Protein Kinase InhibitorsPhase 23612
5ImmunoglobulinsPhase 26045
6Antibodies, MonoclonalPhase 23795
7AntibodiesPhase 26045
8
Sorafenibapproved, investigational692284461-73-0216239, 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 [INN]
Sorafenib tosylate
Sorafenibum
UNII-9ZOQ3TZI87
ZINC01493878
nchembio.117-comp17
sorafenib
sorafenibum
9
Niacinapproved, investigational, nutraceutical90659-67-6938
Synonyms:
3-Carboxylpyridine
3-Carboxypyridine
3-Pyridinecarboxylate
3-Pyridinecarboxylic acid
3-Pyridylcarboxylate
3-Pyridylcarboxylic acid
3-carboxypyridine
Acide Nicotinique
Acido nicotinico
Acidum Nicotinicum
Akotin
Anti-pellagra vitamin
Apelagrin
Daskil
Efacin
Enduracin
Linic
M-Pyridinecarboxylic Acid
Niac
Niacin
Niacine
Niacor
Nicacid
Nicamin
Nicangin
 
Nico-Span
Nicobid
Nicocap
Nicodelmine
Nicolar
Niconacid
Nicosan 3
Nicotinate
Nicotinic Acid
Nicotinic acid
Nicotinipca
Nicyl
Nikotinsaeure
Nyclin
P.P. factor
PP Factor
Pellagra preventive factor
Pellagrin
Pelonin
Pyridine-beta-carboxylic acid
Slo-niacin
Vitamin B3
Wampocap
beta-Pyridinecarboxylic acid
pyridine-β-carboxylic acid
β-pyridinecarboxylic acid
10
Nicotinamideapproved, Nutraceutical90298-92-0936
Synonyms:
.beta.-Pyridinecarboxamide
11032-50-1
123574-63-0
1yc5
3 Pyridinecarboxamide
3-Carbamoylpyridine
3-Pyridinecarboxamide
3-Pyridinecarboxylic acid amide
37321-14-5
47865U_SUPELCO
55600-01-6
63748-44-7
72340_FLUKA
72340_SIGMA
72347_FLUKA
78731-47-2
98-92-0
A186B02E-6C70-4E54-9739-79398D439AAA
AC-907/25014114
AC1L1ACZ
AC1Q4ZFV
AI3-02906
Acid amide
Amid kyseliny nikotinove
Amid kyseliny nikotinove [Czech]
Amide PP
Aminicotin
Amixicotyn
Amnicotin
Astra Brand of Niacinamide
Austrovit PP
B 3, Vitamin
B3, Vitamin
BB_NC-2290
Benicot
C00153
C6H6N2O
CCRIS 1901
CHEBI:17154
CHEMBL1140
CID936
CPD000058212
D00036
D009536
DB02701
DEA No. 1405
Delonin Amide
Delonin amide
Dipegyl
Dipigyl
EINECS 202-713-4
EINECS 234-265-0
Endobion
Enduramide
Factor pp
HMS2052M21
HMS2090B05
HMS2093H03
HSDB 1237
Hansamid
I02-1741
I02-2250
InChI=1/C6H6N2O/c7-6(9)5-2-1-3-8-4-5/h1-4H,(H2,7,9
Inovitan PP
Jenapharm Brand of Niacinamide
Jenapharm, Nicotinsaureamid
LS-2051
MLS000069714
Mediatric
Merck Brand of Niacinamide
MolMap_000061
MolPort-001-783-876
N0078
N0636_SIGMA
N2142_SIGMA
N3376_SIGMA
N5535_SIAL
NAM
NCGC00093354-03
NCGC00093354-04
NSC 13128
NSC13128
NSC27452
Nandervit-N
Niacevit
Niacinamide
Niacinamide (USP)
Niacinamide Astra Brand
Niacinamide Jenapharm Brand
Niacinamide Merck Brand
 
Niacinamide Pharmagenix Brand
Niacinamide [USAN]
Niacinamide, Nicotinic acid amide, Nicotinamide
Niacotinamide
Niamide
Niavit PP
Nicamide
Nicamina
Nicamindon
Nicasir
Nicobion
Nicofort
Nicogen
Nicomidol
Nicosan 2
Nicosylamide
Nicota
Nicotamide
Nicotilamide
Nicotililamido
Nicotinamid
Nicotinamida
Nicotinamida [INN-Spanish]
Nicotinamide
Nicotinamide (JP15/INN)
Nicotinamide (Niacinamide)
Nicotinamide, niacin, vitamin B3
Nicotinamide-carbonyl-14C
Nicotinamidum
Nicotinamidum [INN-Latin]
Nicotine acid amide
Nicotine amide
Nicotinic acid amide
Nicotinic amide
Nicotinsaeureamid
Nicotinsaureamid
Nicotinsaureamid Jenapharm
Nicotinsaureamid [German]
Nicotol
Nicotylamide
Nicotylamidum
Nicovel
Nicovit
Nicovitina
Nicovitol
Nicozymin
Nictoamide
Nikasan
Nikazan
Niko-tamin
Nikotinamid
Nikotinsaeureamid
Nikotinsaeureamid [German]
Niocinamide
Niozymin
PP-Faktor
Papulex
Pelmin
Pelmine
Pelonin amide
Pharmagenix Brand of Niacinamide
Propamine A
Pyridine-3-carboxylic acid amide
S1899_Selleck
SAM001246860
SGCUT00176
SMR000058212
Savacotyl
UNII-25X51I8RD4
Vi-Nicotyl
Vi-noctyl
Vitamin B
Vitamin B (VAN)
Vitamin B 3
Vitamin B3 amide
Vitamin H1
Vitamin PP
WLN: T6NJ CVZ
Witamina PP
ZINC00005878
b-Pyridinecarboxamide
beta-Pyridinecarboxamide
bmse000281
m-(Aminocarbonyl)pyridine
nchembio.154-comp4
nchembio.73-comp6
niacin - Vitamin B3
niacinamide
nicotinamide
pyridine-3-carboxamide
to_000073
vitamin PP
11
Folic Acidapproved, nutraceutical, vet_approved427959-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
Folsaeure
 
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
12Trace Elements5802
13Vitamin B Complex4229
14Vitamins5095
15Micronutrients5802
16Nicotinic Acids906
17FolateNutraceutical4279
18Vitamin B3Nutraceutical906
19Vitamin B9Nutraceutical4279

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
2Talimogene Laherparepvec and Nivolumab in Treating Patients With Refractory Lymphomas or Advanced or Refractory Non-melanoma Skin CancersNot yet recruitingNCT02978625Phase 2
3A Pilot Study of Trientine With Vemurafenib for the Treatment BRAF Mutated Metastatic MelanomaWithdrawnNCT02068079Phase 1
4Prospective, 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

About this section

Genetic tests related to Muir-Torre Syndrome:

id Genetic test Affiliating Genes
1 Muir-Torré Syndrome26

Anatomical Context for Muir-Torre Syndrome

About this section

MalaCards organs/tissues related to Muir-Torre Syndrome:

35
Skin, Colon, Liver, Salivary gland, Thyroid, Eye, Testes

Animal Models for Muir-Torre Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Muir-Torre Syndrome:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.2MLH1, MSH2, MSH6, MUTYH, PMS1, PMS2

Publications for Muir-Torre Syndrome

About this section

Articles related to Muir-Torre Syndrome:

(show top 50)    (show all 193)
idTitleAuthorsYear
1
Universal immunohistochemical screening of sebaceous neoplasms for Muir-Torre syndrome: Putting the cart before the horse? (27745640)
2016
2
Role of microsatellite instability, immunohistochemistry and mismatch repair germline aberrations in immunosuppressed transplant patients: a phenocopy dilemma in Muir-Torre syndrome. (27016151)
2016
3
Importance of universal mismatch repair protein immunohistochemistry in patients with sebaceous neoplasia as an initial screening tool for Muir-Torre syndrome. (26826402)
2016
4
Neuromalignancy complicating the Muir-Torre syndrome. (26076933)
2015
5
FDG-PET-positive lower-extremity sebaceous-gland carcinoma in a patient with Muir-Torre syndrome. (27398125)
2015
6
Parotid Sebaceous Carcinoma in Patient with Muir Torre Syndrome, Caused by MSH2 Mutation. (26577210)
2015
7
Muir-Torre Syndrome Masquerading as Chalazion. (26352527)
2015
8
Sebaceous hyperplasia of the vulva: a series of cases reporting no association with the Muir-Torre syndrome. (24901406)
2014
9
The Muir-Torre syndrome: a typical case of misdiagnosis and consequent worsened prognosis. (25213586)
2014
10
Microsatellite and genetic instability in patients with Muir-Torre syndrome. (23891449)
2013
11
Muir-Torre syndrome: case report and review of the literature. (21488569)
2011
12
Muir-Torre syndrome. (20687506)
2010
13
All patients with sebaceous gland neoplasms should be screened for Muir-Torre syndrome. (19187311)
2009
14
Reticulated acanthoma with sebaceous differentiation. Lack of association with Muir-Torre syndrome. (19461247)
2009
15
Muir-Torre syndrome-is it really a new syndrome? (19955878)
2009
16
Is a cystic sebaceous neoplasm always marker for Muir-Torre syndrome? (19951647)
2009
17
MSH-2 and MLH-1 protein expression in Muir Torre syndrome-related and sporadic sebaceous neoplasms. (19069357)
2008
18
Incidence of cutaneous sebaceous carcinoma and risk of associated neoplasms: insight into Muir-Torre syndrome. (18932259)
2008
19
Muir-Torre syndrome caused by partial duplication of MSH2 gene by Alu-mediated nonhomologous recombination. (17941949)
2008
20
More than just skin deep!: a report on a family with Muir-Torre syndrome. (16575605)
2007
21
Muir-Torre syndrome. (17902735)
2007
22
Eyelid sebaceous carcinoma associated with Muir-Torre syndrome in two cases. (17237705)
2007
23
A case of Muir-Torre syndrome associated with mucinous hepatic cholangiocarcinoma and a novel germline mutation of the MSH2 gene. (17051350)
2007
24
MSH6 mutation in Muir-Torre syndrome: could this be a rare finding? (17199584)
2007
25
Muir-Torre syndrome: Diagnostic and screening guidelines. (17034469)
2006
26
Muir-torre syndrome with intriguing squamous lesions: a case report and review of the literature. (16456327)
2006
27
Muir Torre syndrome and MSH2 mutations: the importance of dermatological awareness. (16786041)
2006
28
Identification of Muir-Torre syndrome among patients with sebaceous tumors and keratoacanthomas: role of clinical features, microsatellite instability, and immunohistochemistry. (15662714)
2005
29
Muir-Torre syndrome presenting with ileus: a case report. (15285550)
2004
30
Sebaceous gland adenoma of the tarsal conjunctiva in a patient with Muir-Torre syndrome. (13129885)
2003
31
Cystic sebaceous neoplasms in Muir-Torre syndrome. (12708909)
2003
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
Muir-Torre syndrome: a case for surveillance of the ampulla of Vater. (11961360)
2002
34
Microsatellite instability and immunostaining for MSH-2 and MLH-1 in cutaneous and internal tumors from patients with the Muir-Torre syndrome. (12139636)
2002
35
New mutation in the hMSH2 gene in a Spanish Muir-Torre syndrome. (11007253)
2000
36
Sebaceous neoplasms in Muir-Torre syndrome. (10770437)
2000
37
Sebaceous gland carcinoma of the eyelid and palpebral conjunctiva in a patient with Muir-Torre syndrome. (11203175)
2000
38
Sebaceous adenomas with atypical immunohistochemical features in the Muir-Torre syndrome [leter]. (10233335)
1999
39
The Muir-Torre syndrome: a rare variant of hereditary nonpolyposis colorectal cancer associated with hMSH2 mutation. (9732950)
1998
40
Muir-Torre syndrome. (9641292)
1998
41
A Muir-Torre syndrome family. (9544152)
1998
42
Widespread microsatellite instability in sebaceous tumours of patients with the Muir-Torre syndrome. (9349329)
1997
43
Muir-Torre syndrome and defective DNA mismatch repair genes. (8784301)
1996
44
Muir-Torre syndrome. (7712655)
1995
45
The Muir-Torre syndrome: a 25-year retrospect. (7601953)
1995
46
Muir-Torre syndrome with multiple neoplasia. (1467892)
1992
47
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
48
Unusual eyelid tumors with sebaceous differentiation in the Muir-Torre syndrome. Rapid clinical regrowth and frank squamous transformation after biopsy. (3211463)
1988
49
Muir-Torre syndrome. Histologic spectrum of sebaceous proliferations. (3728878)
1986
50
Oral isotretinoin therapy for familial Muir-Torre syndrome. (3857234)
1985

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 DELdeletionPathogenicChr na, -1: -1
2MSH2NM_000251.2(MSH2): c.1801C> T (p.Gln601Ter)SNVPathogenicrs63750047GRCh37Chr 2, 47702205: 47702205
3MSH2NM_000251.2(MSH2): c.269_290dup22 (p.Tyr98Argfs)duplicationPathogenicrs587776529GRCh37Chr 2, 47635597: 47635618
4MSH2MSH2, 32-KB DEL, EX1-6deletionPathogenicChr na, -1: -1

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, PMS2
79.1MLH1, MSH2, MSH6, PMS2
89.1MLH1, MSH2, MSH6, MUTYH
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
1MutSalpha complexGO:003230110.2MSH2, MSH6
2chiasmaGO:00057129.9MLH1, PMS1
3synaptonemal complexGO:00007959.1MLH1, MSH5, PMS1
4MutLalpha complexGO:00323899.0MLH1, PMS1, PMS2

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1somatic recombination of immunoglobulin genes involved in immune responseGO:000220410.5MLH1, MSH2
2determination of adult lifespanGO:000834010.3MSH2, MSH6
3maintenance of DNA repeat elementsGO:004357010.3MSH2, MSH6
4negative regulation of DNA recombinationGO:004591010.3MSH2, MSH6
5positive regulation of helicase activityGO:005109610.2MSH2, MSH6
6somatic recombination of immunoglobulin gene segmentsGO:001644710.0MLH1, MSH2, MSH6
7meiotic mismatch repairGO:000071010.0MSH2, MSH5, MSH6
8isotype switchingGO:00451909.9MLH1, MSH2, MSH6
9intrinsic apoptotic signaling pathway in response to DNA damageGO:00086309.8MLH1, MSH2, MSH6
10somatic hypermutation of immunoglobulin genesGO:00164469.7MLH1, MSH2, MSH6, PMS2
11reciprocal meiotic recombinationGO:00071319.2MLH1, MSH2, MSH6
12DNA repairGO:00062819.1MLH1, MSH2, MSH6, MUTYH
13mismatch repairGO:00062988.2MLH1, MSH2, MSH5, MSH6, MUTYH, PMS1

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1single thymine insertion bindingGO:003214310.6MSH2, MSH6
2single guanine insertion bindingGO:003214210.6MSH2, MSH6
3oxidized purine DNA bindingGO:003235710.6MSH2, MSH6
4ADP bindingGO:004353110.4MSH2, MSH6
5guanine/thymine mispair bindingGO:003213710.3MLH1, MSH2, MSH6
6four-way junction DNA bindingGO:000040010.2MSH2, MSH6
7MutLalpha complex bindingGO:003240510.1MSH2, MSH6, MUTYH
8MutSalpha complex bindingGO:003240710.0MLH1, MUTYH, PMS2
9damaged DNA bindingGO:00036849.9MSH2, MSH5, MSH6
10mismatched DNA bindingGO:00309839.5MSH2, MSH5, MSH6, PMS1
11single-stranded DNA bindingGO:00036979.3MLH1, MSH2, PMS1, PMS2
12ATPase activityGO:00168878.9MLH1, MSH2, MSH6, PMS1, PMS2
13DNA bindingGO:00036778.5MSH2, MSH6, MUTYH, PMS1, PMS2
14ATP bindingGO:00055248.2MLH1, MSH2, MSH5, MSH6, PMS1, PMS2

Sources for Muir-Torre Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet