MCID: SPH012
MIFTS: 26

Spheroid Body Myopathy malady

Neuronal diseases category

Summaries for Spheroid Body Myopathy

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46OMIM, 32MalaCards
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MalaCards: Spheroid Body Myopathy, also known as autosomal dominant spheroid body myopathy, is related to myopathy and myopathy, myofibrillar, 1. An important gene associated with Spheroid Body Myopathy is MYOT (myotilin).

Description from OMIM:46 182920

Aliases & Classifications for Spheroid Body Myopathy

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 44Novoseek, 48Orphanet, 60UMLS, 46OMIM, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
spheroid body myopathy:
Inheritance: Autosomal dominant; Age of onset: Variable


Aliases & Descriptions:

spheroid body myopathy 42 20 22 44 48 60
autosomal dominant spheroid body myopathy 42
myopathy, spheroid body 46


External Ids:

OMIM46 182920
ICD10 via Orphanet26 G71.8

Related Diseases for Spheroid Body Myopathy

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

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy30.5MYOT, DES
2myopathy, myofibrillar, 110.2
3myotilinopathy10.0MYOT
4dilated cardiomyopathy10.0DES
5neuropathy10.0MYOT
6central core myopathy10.0MYOT, DES
7nemaline myopathy10.0MYOT, DES
8distal muscular dystrophy10.0MYOT, DES
9myofibrillar myopathy10.0DES, MYOT
10neuromuscular disease10.0MYOT, DES
11muscular dystrophy10.0MYOT, DES
12noonan syndrome10.0DES, MYOT

Graphical network of diseases related to Spheroid Body Myopathy:



Diseases related to spheroid body myopathy

Clinical Features for Spheroid Body Myopathy

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Sources:
46OMIM
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Clinical features from OMIM:

182920

Clinical synopsis from OMIM:

182920

Drugs & Therapeutics for Spheroid Body Myopathy

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Spheroid Body Myopathy

Drug clinical trials:

Search ClinicalTrials for Spheroid Body Myopathy

Search NIH Clinical Center for Spheroid Body Myopathy

Search CenterWatch for Spheroid Body Myopathy

Genetic Tests for Spheroid Body Myopathy

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Sources:
20GeneTests, 22GTR
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Genetic tests related to Spheroid Body Myopathy:

id Genetic test Affiliating Genes
1 Spheroid Body Myopathy20 22 MYOT

Anatomical Context for Spheroid Body Myopathy

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Animal Models for Spheroid Body Myopathy or affiliated genes

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Publications for Spheroid Body Myopathy

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Genetic Variations for Spheroid Body Myopathy

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Spheroid Body Myopathy:

62
id Symbol AA change Variation ID SNP ID
1MYOTp.Ser39PheVAR_029532

Expression for genes affiliated with Spheroid Body Myopathy

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

Search GEO for disease gene expression data for Spheroid Body Myopathy.

Pathways for genes affiliated with Spheroid Body Myopathy

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Compounds for genes affiliated with Spheroid Body Myopathy

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GO Terms for genes affiliated with Spheroid Body Myopathy

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Sources:
16Gene Ontology
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Cellular components related to Spheroid Body Myopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Z discGO:0300189.1MYOT, DES
2sarcolemmaGO:0423838.8MYOT, DES

Biological processes related to Spheroid Body Myopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1muscle contractionGO:0069369.1MYOT, DES

Products for genes affiliated with Spheroid Body Myopathy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Spheroid Body Myopathy

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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