MCID: SPH012
MIFTS: 21

Spheroid Body Myopathy malady

Neuronal category

Summaries for Spheroid Body Myopathy

Sources:
47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

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

Description from OMIM:47 182920

Aliases & Classifications for Spheroid Body Myopathy

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 45Novoseek, 49Orphanet, 61UMLS, 47OMIM, 26ICD10 via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
spheroid body myopathy:
Inheritance: Autosomal dominant; Age of onset: Variable


Aliases & Descriptions:

spheroid body myopathy 43 20 22 45 49 61
autosomal dominant spheroid body myopathy 43
myopathy, spheroid body 47


External Ids:

OMIM47 182920
ICD10 via Orphanet26 G71.8

Related Diseases for Spheroid Body Myopathy

Sources:
17GeneCards, 18GeneDecks
See all sources

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

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

Graphical network of diseases related to Spheroid Body Myopathy:



Diseases related to spheroid body myopathy

Clinical Features for Spheroid Body Myopathy

Sources:
47OMIM
See all sources

Clinical features from OMIM:

182920

Clinical synopsis from OMIM:

182920

Drugs & Therapeutics for Spheroid Body Myopathy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Spheroid Body Myopathy:

id Genetic test Affiliating Genes
1 Spheroid Body Myopathy20 22 MYOT

Anatomical Context for Spheroid Body Myopathy

Animal Models for Spheroid Body Myopathy or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Spheroid Body Myopathy

Sources:
51PubMed
See all sources

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
3
Autosomal dominant "spheroid body myopathy". (571956)
1978

Genetic Variations for Spheroid Body Myopathy

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Spheroid Body Myopathy:

63
id Symbol AA change Variation SNP ID
1MYOTp.Ser39PheVAR_029532

Expression for genes affiliated with Spheroid Body Myopathy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Compounds for genes affiliated with Spheroid Body Myopathy

GO Terms for genes affiliated with Spheroid Body Myopathy

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Spheroid Body Myopathy

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