MCID: MYT004
MIFTS: 29

Myotilinopathy malady

Summaries for Myotilinopathy

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32MalaCards
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MalaCards: Myotilinopathy is related to myopathy and neuronitis. 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, 60UMLS
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Aliases & Descriptions:

myotilinopathy 20 22 60


Related Diseases for Myotilinopathy

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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 55)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy29.9TTN, MYOT, DES, RPS27A
2neuronitis10.0
3myopathy, myofibrillar, 110.0
4myopathy, myofibrillar, 310.0
5huntington's disease10.0REST
6pheochromocytoma10.0REST
7rhabdoid tumor10.0DES
8alexander disease10.0DES
9pancreatitis10.0SOD2
10cataract10.0RPS27A
11deficiency anemia10.0SOD2
12meningioma10.0PKM
13spheroid body myopathy10.0MYOT, DES
14central core myopathy10.0MYOT, DES
15nemaline myopathy10.0DES, MYOT
16hepatitis10.0SOD2
17medulloblastoma10.0REST, DES
18dementia10.0RPS27A, SQSTM1
19limb-girdle muscular dystrophy, type 2g10.0MYOT, TTN
20myofibrillar myopathy10.0DES, RPS27A
21multiple system atrophy10.0SQSTM1, RPS27A
22limb-girdle muscular dystrophy, type 1a10.0MYOT, TTN
23limb-girdle muscular dystrophy, type 2b10.0MYOT, TTN
24dilated cardiomyopathy10.0DES, TTN
25calpainopathy10.0TTN, MYOT
26parkinson's disease10.0RPS27A, UBB
27myositis10.0TTN, RPS27A
28polymyositis10.0RPS27A, TTN
29tauopathy10.0INA, RPS27A
30myoepithelioma10.0NOS2
31alcoholic hepatitis10.0RPS27A, SQSTM1
32limb-girdle muscular dystrophy10.0MYOT, TTN
33distal muscular dystrophy10.0TTN, MYOT, DES
34neuromuscular disease10.0DES, TTN, MYOT
35muscular dystrophy10.0TTN, MYOT, DES
36frontotemporal dementia10.0RPS27A, INA, SQSTM1
37proteinuria10.0SOD2
38colorectal cancer10.0PKM, RPS27A
39noonan syndrome10.0TTN, DES, MYOT
40herpes simplex10.0SOD2, RPS27A
41neuropathy10.0SOD2, TTN, MYOT
42malignant mesothelioma10.0DES, SOD2
43myopathy congenital10.0DES, RPS27A, TTN
44glomerulonephritis10.0NOS2, RPS27A
45amyotrophic lateral sclerosis10.0SOD2, SQSTM1, RPS27A
46breast cancer10.0RPS27A, SOD2, SQSTM1
47down syndrome10.0REST, SOD2, UBB
48malignant fibroxanthoma10.0DES, NOS2
49motor neuron disease10.0INA, SQSTM1, SOD2, RPS27A
50astrocytoma10.0NOS2, INA, SOD2

Graphical network of the top 20 diseases related to Myotilinopathy:



Diseases related to myotilinopathy

Clinical Features for Myotilinopathy

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Drugs & Therapeutics for Myotilinopathy

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Sources:
5CenterWatch, 41NIH 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

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Animal Models for Myotilinopathy or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Myotilinopathy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.8NOS2, SQSTM1, UBB, SOD2

Publications for Myotilinopathy

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Genetic Variations for Myotilinopathy

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Expression for genes affiliated with Myotilinopathy

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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

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53Reactome, 37NCBI 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
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9.3SQSTM1, UBB, RPS27A

Compounds for genes affiliated with Myotilinopathy

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Sources:
44Novoseek, 28IUPHAR, 11DrugBank, 59Tocris Bioscience, 24HMDB, 49PharmGKB
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Compounds related to Myotilinopathy according to GeneCards/GeneDecks:

(show all 22)
idCompoundScoreTop Affiliating Genes
1l-canavanine4410.0RPS27A, NOS2
2ly 835834410.0NOS2, SOD2
33-nitrotyrosine449.9SOD2, NOS2
4dicoumarol449.9SOD2, RPS27A
5onoo449.9NOS2, SOD2
6aminoguanidine44 28 1111.8SOD2, NOS2
7radicicol44 59 1111.7NOS2, RPS27A
84-hydroxynonenal44 2410.6RPS27A, SOD2, NOS2
9curcumin449.4NOS2, SOD2, RPS27A
10doxorubicin44 49 1111.3RPS27A, SOD2, DES, NOS2
11actinomycin d449.3NOS2, DES, SOD2, RPS27A
12valine449.3TTN, SOD2, RPS27A
13lactate449.3PKM, DES, SOD2, RPS27A
14polyacrylamide449.2SOD2, DES, TTN
15creatinine449.1RPS27A, SOD2, DES, TTN
16h2o2449.0NOS2, DES, SOD2, RPS27A
17oxygen44 249.9SOD2, SQSTM1, DES, PKM, NOS2
18acetylcholine44 49 28 11 2412.8NOS2, TTN, DES, SOD2, RPS27A
19cysteine448.7RPS27A, SOD2, DES, PKM, TTN
20arginine448.5NOS2, REST, DES, SOD2, RPS27A
21tyrosine448.1RPS27A, SOD2, SQSTM1, DES, PKM, REST
22calcium44 49 11 2410.0NOS2, TTN, INA, REST, PKM, DES

GO Terms for genes affiliated with Myotilinopathy

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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

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Sources for Myotilinopathy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet