MCID: MYT004
MIFTS: 29

Myotilinopathy malady

Summaries for Myotilinopathy

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33MalaCards
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MalaCards: Myotilinopathy is related to myopathy, myofibrillar, 1 and myopathy, myofibrillar, 3. An important gene associated with Myotilinopathy is MYOT (myotilin), and among its related pathways are Cellular response to hypoxia and IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation. The compounds l-canavanine and ly 83583 have been mentioned in the context of this disorder. Related mouse phenotype adipose tissue.

Aliases & Classifications for Myotilinopathy

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20GeneTests, 22GTR, 61UMLS
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Aliases & Descriptions:

myotilinopathy 20 22 61


Related Diseases for Myotilinopathy

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Myotilinopathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 54)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy, myofibrillar, 110.0
2myopathy, myofibrillar, 310.0
3huntington's disease10.0REST
4pheochromocytoma10.0REST
5rhabdoid tumor10.0DES
6alexander disease10.0DES
7pancreatitis10.0SOD2
8cataract10.0RPS27A
9deficiency anemia10.0SOD2
10meningioma10.0PKM
11spheroid body myopathy10.0MYOT, DES
12central core myopathy10.0MYOT, DES
13nemaline myopathy10.0MYOT, DES
14hepatitis10.0SOD2
15medulloblastoma10.0REST, DES
16dementia10.0RPS27A, SQSTM1
17myofibrillar myopathy10.0DES, RPS27A
18limb-girdle muscular dystrophy, type 2g10.0TTN, MYOT
19multiple system atrophy10.0RPS27A, SQSTM1
20limb-girdle muscular dystrophy, type 1a10.0TTN, MYOT
21limb-girdle muscular dystrophy, type 2b10.0TTN, MYOT
22dilated cardiomyopathy10.0TTN, DES
23calpainopathy10.0MYOT, TTN
24parkinson's disease10.0UBB, RPS27A
25myositis10.0TTN, RPS27A
26tauopathy10.0INA, RPS27A
27polymyositis10.0RPS27A, TTN
28myoepithelioma10.0NOS2
29alcoholic hepatitis10.0RPS27A, SQSTM1
30limb-girdle muscular dystrophy10.0TTN, MYOT
31distal muscular dystrophy10.0DES, MYOT, TTN
32neuromuscular disease10.0DES, MYOT, TTN
33muscular dystrophy10.0DES, MYOT, TTN
34frontotemporal dementia10.0RPS27A, SQSTM1, INA
35proteinuria10.0SOD2
36colorectal cancer10.0PKM, RPS27A
37noonan syndrome10.0DES, MYOT, TTN
38herpes simplex10.0SOD2, RPS27A
39neuropathy10.0TTN, MYOT, SOD2
40malignant mesothelioma10.0DES, SOD2
41myopathy congenital10.0TTN, DES, RPS27A
42glomerulonephritis10.0NOS2, RPS27A
43amyotrophic lateral sclerosis10.0SQSTM1, SOD2, RPS27A
44breast cancer10.0RPS27A, SOD2, SQSTM1
45down syndrome10.0REST, UBB, SOD2
46myopathy10.0TTN, MYOT, DES, RPS27A
47pleomorphic adenoma10.0NOS2, DES
48motor neuron disease10.0RPS27A, SOD2, SQSTM1, INA
49astrocytoma10.0SOD2, INA, NOS2
50type 1 diabetes10.0SOD2, NOS2

Graphical network of the top 20 diseases related to Myotilinopathy:



Diseases related to myotilinopathy

Clinical Features for Myotilinopathy

Drugs & Therapeutics for Myotilinopathy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Myotilinopathy

Drug clinical trials:

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Search NIH Clinical Center for Myotilinopathy

Search CenterWatch for Myotilinopathy

Genetic Tests for Myotilinopathy

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20GeneTests, 22GTR
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Genetic tests related to Myotilinopathy:

id Genetic test Affiliating Genes
1 Myotilinopathy20 22 MYOT

Anatomical Context for Myotilinopathy

Animal Models for Myotilinopathy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Myotilinopathy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.8NOS2, SQSTM1, UBB, SOD2

Publications for Myotilinopathy

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51PubMed
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Articles related to Myotilinopathy:

idTitleAuthorsYear
1
Analysis of myotilin turnover provides mechanistic insight into the role of myotilinopathy-causing mutations. (21361873)
2011
2
Generalized muscle pseudo-hypertrophy and stiffness associated with the myotilin Ser55Phe mutation: a novel myotilinopathy phenotype? (19027924)
2009
3
Involvement patterns in myotilinopathy and desminopathy detected by a novel neuromuscular whole-body MRI protocol. (18648820)
2008
4
Target genes of neuron-restrictive silencer factor are abnormally up-regulated in human myotilinopathy. (17823282)
2007
5
Myotilinopathy in a family with late onset myopathy. (16793270)
2006
6
Different early pathogenesis in myotilinopathy compared to primary desminopathy. (16684602)
2006
7
Myotilinopathy: refining the clinical and myopathological phenotype. (15947064)
2005

Genetic Variations for Myotilinopathy

Expression for genes affiliated with Myotilinopathy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Myotilinopathy

Search GEO for disease gene expression data for Myotilinopathy.

Pathways for genes affiliated with Myotilinopathy

Sources:
54Reactome, 38NCBI BioSystems Database
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Pathways related to Myotilinopathy according to GeneCards/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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9.6UBB, RPS27A
2
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9.6UBB, RPS27A
3
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9.6RPS27A, UBB
4
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9.6UBB, RPS27A
5
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9.6UBB, RPS27A
6
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9.6UBB, RPS27A
79.6UBB, RPS27A
89.6RPS27A, UBB
9
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9.6UBB, RPS27A
10
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9.6RPS27A, UBB
11
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9.6RPS27A, UBB
12
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9.3SQSTM1, UBB, RPS27A
13
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9.3SQSTM1, UBB, RPS27A
14
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9.3SQSTM1, UBB, RPS27A
15
Hide members
9.3SQSTM1, UBB, RPS27A

Compounds for genes affiliated with Myotilinopathy

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 60Tocris Bioscience, 24HMDB, 50PharmGKB
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Compounds related to Myotilinopathy according to GeneCards/GeneDecks:

(show all 22)
idCompoundScoreTop Affiliating Genes
1l-canavanine4510.0RPS27A, NOS2
2ly 835834510.0NOS2, SOD2
33-nitrotyrosine459.9SOD2, NOS2
4dicoumarol459.9SOD2, RPS27A
5onoo459.9NOS2, SOD2
6aminoguanidine45 29 1111.8SOD2, NOS2
7radicicol45 60 1111.7NOS2, RPS27A
84-hydroxynonenal45 2410.6RPS27A, SOD2, NOS2
9curcumin459.4NOS2, SOD2, RPS27A
10doxorubicin45 50 1111.3RPS27A, SOD2, DES, NOS2
11actinomycin d459.3NOS2, DES, SOD2, RPS27A
12valine459.3TTN, SOD2, RPS27A
13lactate459.3PKM, DES, SOD2, RPS27A
14polyacrylamide459.2SOD2, DES, TTN
15creatinine459.1RPS27A, SOD2, DES, TTN
16h2o2459.0NOS2, DES, SOD2, RPS27A
17oxygen45 249.9SOD2, SQSTM1, DES, PKM, NOS2
18acetylcholine45 50 29 11 2412.8NOS2, TTN, DES, SOD2, RPS27A
19cysteine458.7RPS27A, SOD2, DES, PKM, TTN
20arginine458.5NOS2, REST, DES, SOD2, RPS27A
21tyrosine458.1RPS27A, SOD2, SQSTM1, DES, PKM, REST
22calcium45 50 11 2410.0NOS2, TTN, INA, REST, PKM, DES

GO Terms for genes affiliated with Myotilinopathy

Sources:
16Gene Ontology
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Cellular components related to Myotilinopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Z discGO:0300189.4TTN, MYOT, DES
2cytosolGO:0058296.5NOS2, RPS27A, UBB, SQSTM1, DES, PKM

Biological processes related to Myotilinopathy according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1viral protein processingGO:0190829.8UBB, RPS27A
2regulation of type I interferon productionGO:0324799.8RPS27A, UBB
3virion assemblyGO:0190689.8RPS27A, UBB
4superoxide metabolic processGO:0068019.8NOS2, SOD2
5regulation of catalytic activityGO:0507909.7TTN, SOD2
6Notch receptor processingGO:0072209.7UBB, RPS27A
7muscle contractionGO:0069369.6DES, MYOT, TTN
8nucleotide-binding oligomerization domain containing signaling pathwayGO:0704239.6RPS27A, UBB
9negative regulation of epidermal growth factor receptor signaling pathwayGO:0420599.6UBB, RPS27A
10endosomal transportGO:0161979.6SQSTM1, UBB, RPS27A
11apoptotic signaling pathwayGO:0971909.5SQSTM1, UBB, RPS27A
12regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:0614189.5UBB, RPS27A
13negative regulation of type I interferon productionGO:0324809.3UBB, RPS27A
14positive regulation of apoptotic processGO:0430658.7REST, SQSTM1, UBB, RPS27A

Molecular functions related to Myotilinopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1identical protein bindingGO:0428029.0TTN, DES, SQSTM1, SOD2

Products for genes affiliated with Myotilinopathy

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Myotilinopathy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet