MCID: SPH012
MIFTS: 29

Spheroid Body Myopathy malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Summaries for Spheroid Body Myopathy

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48OMIM, 34MalaCards
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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:48 182920

Aliases & Classifications for Spheroid Body Myopathy

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Sources:
44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 46Novoseek, 50Orphanet, 63UMLS, 64UMLS via Orphanet, 27ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

50
spheroid body myopathy:
Inheritance: Autosomal dominant; Age of onset: Variable


Aliases & Descriptions:

spheroid body myopathy 44 21 23 46 50 63
autosomal dominant spheroid body myopathy 44
myopathy, spheroid body 48


External Ids:

UMLS via Orphanet64 C1866785
OMIM48 182920
ICD10 via Orphanet27 G71.8

Related Diseases for Spheroid Body Myopathy

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Spheroid Body Myopathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1myopathy30.5MYOT, DES
2myopathy, myofibrillar, 110.2
3myofibrillar myopathy10.0DES, MYOT
4central core myopathy10.0DES, MYOT
5nemaline myopathy10.0MYOT, DES
6distal muscular dystrophy10.0MYOT, DES
7neuromuscular disease10.0MYOT, DES
8muscular dystrophy10.0MYOT, DES
9noonan syndrome9.9MYOT, DES

Graphical network of diseases related to Spheroid Body Myopathy:



Diseases related to spheroid body myopathy

Symptoms for Spheroid Body Myopathy

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Sources:
48OMIM
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Symptoms by clinical synopsis from OMIM:

182920

Clinical features from OMIM:

182920

Drugs & Therapeutics for Spheroid Body Myopathy

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Spheroid Body Myopathy

Search CenterWatch for Spheroid Body Myopathy

Genetic Tests for Spheroid Body Myopathy

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21GeneTests, 23GTR
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Genetic tests related to Spheroid Body Myopathy:

id Genetic test Affiliating Genes
1 Spheroid Body Myopathy21 23 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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53PubMed
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Articles related to Spheroid Body Myopathy:

idTitleAuthorsYear
1
A mutation in myotilin causes spheroid body myopathy. (16380616)
2005
2
Spheroid body myopathy revisited. (9270668)
1997

Variations for Spheroid Body Myopathy

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Spheroid Body Myopathy:

65
id Symbol AA change Variation ID SNP ID
1MYOTp.Ser39PheVAR_029532

Clinvar genetic disease variations for Spheroid Body Myopathy:

1
id Gene Name Type Significance SNP ID Assembly Location
1MYOTNM_006790.2(MYOT): c.116C> T (p.Ser39Phe)single nucleotide variantPathogenicrs121908461GRCh37Chr 5, 137206456: 137206456

Expression for genes affiliated with Spheroid Body Myopathy

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Spheroid Body Myopathy

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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:
17Gene 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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet