MCID: SPH012
MIFTS: 29

Spheroid Body Myopathy malady

Genetic diseases, Rare diseases, Neuronal diseases categories
Download this MalaCard

Summaries for Spheroid Body Myopathy

About this section


Fully expand this MalaCard
MalaCards based summary: Spheroid Body Myopathy, also known as autosomal dominant spheroid body myopathy, is related to myopathy and myopathy, myofibrillar, 1, and has symptoms including An important gene associated with Spheroid Body Myopathy is MYOT (myotilin).

Description from OMIM:46 182920

Aliases & Classifications for Spheroid Body Myopathy

About this section
Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 44Novoseek, 48Orphanet, 62UMLS, 46OMIM, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Spheroid Body Myopathy, Aliases & Descriptions:

Name: Spheroid Body Myopathy 42 20 22 44 48 62
Autosomal Dominant Spheroid Body Myopathy 42 62
 
Myopathy, Spheroid Body 46


Classifications:

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


Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 182920
ICD10 via Orphanet26 G71.8
UMLS via Orphanet63 C1866785

Related Diseases for Spheroid Body Myopathy

About this section

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

idRelated DiseaseScoreTop Affiliating Genes
1myopathy30.4DES, MYOT
2myopathy, myofibrillar, 110.2
3myofibrillar myopathy10.0DES, MYOT
4central core myopathy9.9MYOT, DES
5nemaline myopathy9.9DES, MYOT
6distal muscular dystrophy9.9DES, MYOT
7neuromuscular disease9.9MYOT, DES
8muscular dystrophy9.8DES, MYOT
9noonan syndrome9.8DES, MYOT

Graphical network of diseases related to Spheroid Body Myopathy:



Diseases related to spheroid body myopathy

Symptoms for Spheroid Body Myopathy

About this section

Symptoms by clinical synopsis from OMIM:

182920

Clinical features from OMIM:

182920

HPO human phenotypes related to Spheroid Body Myopathy:

(show all 13)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 nasal speech HP:0001611
3 dysphagia HP:0002015
4 broad-based gait HP:0002136
5 waddling gait HP:0002515
6 myopathy HP:0003198
7 amyotrophy HP:0003202
8 elevated serum creatine phosphokinase HP:0003236
9 absent achilles reflex HP:0003438
10 onset HP:0003674
11 slow progression HP:0003677
12 neck flexor weakness HP:0003722
13 variable expressivity HP:0003828

Drugs & Therapeutics for Spheroid Body Myopathy

About this section

Drug clinical trials:

Search ClinicalTrials for Spheroid Body Myopathy

Search NIH Clinical Center for Spheroid Body Myopathy

Genetic Tests for Spheroid Body Myopathy

About this section

Genetic tests related to Spheroid Body Myopathy:

id Genetic test Affiliating Genes
1 Spheroid Body Myopathy20 22 MYOT

Anatomical Context for Spheroid Body Myopathy

About this section

Animal Models for Spheroid Body Myopathy or affiliated genes

About this section

Publications for Spheroid Body Myopathy

About this section

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

About this section

UniProtKB/Swiss-Prot genetic disease variations for Spheroid Body Myopathy:

64
id Symbol AA change Variation ID SNP ID
1MYOTp.Ser39PheVAR_029532

Clinvar genetic disease variations for Spheroid Body Myopathy:

6
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

About this section
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

About this section

Compounds for genes affiliated with Spheroid Body Myopathy

About this section

GO Terms for genes affiliated with Spheroid Body Myopathy

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Spheroid Body Myopathy

About this section
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet