MCID: MYS032
MIFTS: 39

Myosin Storage Myopathy malady

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

Summaries for Myosin Storage Myopathy

About this section


Fully expand this MalaCard
Genetics Home Reference:21 Myosin storage myopathy is a condition that causes muscle weakness (myopathy) that does not worsen or worsens very slowly over time. This condition is characterized by the formation of protein clumps, which contain a protein called myosin, within certain muscle fibers. The signs and symptoms of myosin storage myopathy usually become noticeable in childhood, although they can occur later. Because of muscle weakness, affected individuals may start walking later than usual and have a waddling gait, trouble climbing stairs, and difficulty lifting the arms above shoulder level. Muscle weakness also causes some affected individuals to have trouble breathing.

MalaCards based summary: Myosin Storage Myopathy, also known as autosomal dominant hyaline body myopathy, is related to myopathy and myh7-related myosin storage myopathy, and has symptoms including An important gene associated with Myosin Storage Myopathy is MYH7 (myosin, heavy chain 7, cardiac muscle, beta), and among its related pathways are Actin Nucleation by ARP-WASP Complex and Allograft rejection. The compounds phosphocreatine and actomyosin have been mentioned in the context of this disorder.

Descriptions from OMIM:46 255160,608358

Aliases & Classifications for Myosin Storage Myopathy

About this section
Sources:
21Genetics Home Reference, 46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
See all sources

Myosin Storage Myopathy, Aliases & Descriptions:

Name: Myosin Storage Myopathy 21
Autosomal Dominant Hyaline Body Myopathy 21 62
 
Myopathy, Myosin Storage 46 62
Hyaline Body Myopathy 48 46


Classifications:

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


External Ids:

ICD10 via Orphanet26 G71.2

Related Diseases for Myosin Storage Myopathy

About this section

Graphical network of diseases related to Myosin Storage Myopathy:



Diseases related to myosin storage myopathy

Symptoms for Myosin Storage Myopathy

About this section

Symptoms by clinical synopsis from OMIM:

255160

Clinical features from OMIM:

255160,608358

HPO human phenotypes related to Myosin Storage Myopathy:

(show all 24)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 elevated serum creatine phosphokinase HP:0003236
3 emg HP:0003458
4 slow progression HP:0003677
5 centrally nucleated skeletal muscle fibers HP:0003687
6 scapuloperoneal amyotrophy HP:0003697
7 scapuloperoneal weakness HP:0003704
8 type 1 muscle fiber predominance HP:0003803
9 autosomal dominant inheritance HP:0000006
10 abnormality of the cardiovascular system HP:0001626
11 waddling gait HP:0002515
12 reduced vital capacity HP:0002792
13 elevated serum creatine phosphokinase HP:0003236
14 generalized muscle weakness HP:0003324
15 emg HP:0003458
16 onset HP:0003674
17 slow progression HP:0003677
18 centrally nucleated skeletal muscle fibers HP:0003687
19 scapular winging HP:0003691
20 scapuloperoneal amyotrophy HP:0003697
21 scapuloperoneal weakness HP:0003704
22 calf muscle pseudohypertrophy HP:0003707
23 type 1 muscle fiber predominance HP:0003803
24 generalized limb muscle atrophy HP:0009055

Drugs & Therapeutics for Myosin Storage Myopathy

About this section

Drug clinical trials:

Search ClinicalTrials for Myosin Storage Myopathy

Search NIH Clinical Center for Myosin Storage Myopathy

Genetic Tests for Myosin Storage Myopathy

About this section

Anatomical Context for Myosin Storage Myopathy

About this section

Animal Models for Myosin Storage Myopathy or affiliated genes

About this section

Publications for Myosin Storage Myopathy

About this section

Articles related to Myosin Storage Myopathy:

(show all 11)
idTitleAuthorsYear
1
A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy. (21288719)
2011
2
Scoliosis surgery in a patient with "de novo" myosin storage myopathy. (21723124)
2011
3
Myosin storage myopathy: a rare subtype of protein aggregate myopathies]. (20376763)
2010
4
Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms. (19336582)
2009
5
Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation. (19138847)
2009
6
MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy. (17336526)
2007
7
Myosin storage myopathy with cardiomyopathy. (17588755)
2007
8
Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy. (17372140)
2007
9
Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred. (16684601)
2006
10
Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases. (15699387)
2005
11
Myosin storage myopathy associated with a heterozygous missense mutation in MYH7. (14520662)
2003

Variations for Myosin Storage Myopathy

About this section

UniProtKB/Swiss-Prot genetic disease variations for Myosin Storage Myopathy:

64
id Symbol AA change Variation ID SNP ID
1MYH7p.Arg1845TrpVAR_017754rs28933098
2MYH7p.His1901LeuVAR_042840

Clinvar genetic disease variations for Myosin Storage Myopathy:

6
id Gene Name Type Significance SNP ID Assembly Location
1MYH7NM_000257.3(MYH7): c.5533C> T (p.Arg1845Trp)single nucleotide variantPathogenicrs28933098GRCh37Chr 14, 23884230: 23884230
2MYH7NM_000257.3(MYH7): c.5702A> T (p.His1901Leu)single nucleotide variantPathogenicrs121913649GRCh37Chr 14, 23883056: 23883056
3MYH7NM_000257.3(MYH7): c.5647G> A (p.Glu1883Lys)single nucleotide variantPathogenicrs121913652GRCh37Chr 14, 23883224: 23883224
4MYH7NM_000257.3(MYH7): c.5378T> C (p.Leu1793Pro)single nucleotide variantPathogenicrs121913654GRCh37Chr 14, 23884385: 23884385

Expression for genes affiliated with Myosin Storage Myopathy

About this section
Expression patterns in normal tissues for genes affiliated with Myosin Storage Myopathy

Search GEO for disease gene expression data for Myosin Storage Myopathy.

Pathways for genes affiliated with Myosin Storage Myopathy

About this section

Pathways related to Myosin Storage Myopathy according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.0MYH6, MYH7
2
Show member pathways
9.0MYH7, MYH6
3
Show member pathways
9.0MYH6, MYH7
4
Show member pathways
9.0MYH7, MYH6
5
Show member pathways
9.0MYH7, MYH6
6
Show member pathways
9.0MYH6, MYH7
7
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility60
Cytoskeleton remodeling Integrin outside in signaling60
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases60
Cell adhesion Tight junctions60
Development MAG dependent inhibition of neurite outgrowth60
9.0MYH6, MYH7
89.0MYH6, MYH7
9
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy37
9.0MYH7, MYH6
10
Show member pathways
9.0MYH6, MYH7
119.0MYH6, MYH7
12
Show member pathways
9.0MYH6, MYH7
139.0MYH7, MYH6

Compounds for genes affiliated with Myosin Storage Myopathy

About this section

Compounds related to Myosin Storage Myopathy according to GeneCards/GeneDecks:

(show all 20)
idCompoundScoreTop Affiliating Genes
1phosphocreatine44 2410.6MYH7, DNAH8
2actomyosin449.6DNAH8, MYH7
3glycerol44 24 1111.4MYH7, DNAH8
4succinate449.4DNAH8, MYH6
5(+-)-blebbistatin619.4MYH6, MYH7
6(s)-(-)-blebbistatin619.4MYH7, MYH6
7bts619.3MYH6, MYH7
8(r)-(+)-blebbistatin619.3MYH6, MYH7
9carnitine449.3DNAH8, MYH6
10creatinine449.3MYH7, DNAH8
11thyroxine44 2410.3DNAH8, MYH6
12ryanodine44 28 6111.3MYH7, MYH6
13isoproterenol44 1110.2MYH7, MYH6
14norepinephrine44 24 1111.1DNAH8, MYH6
15polyacrylamide449.1MYH6, MYH7
16glutamine449.0DNAH8, MYH7
17chloramphenicol44 2 50 1111.8DNAH8, MYH7, MYH6
18arginine448.8MYH6, DNAH8, MYH7
19atp44 289.7DNAH8, MYH6, MYH7
20calcium44 50 24 1111.4MYH7, DNAH8, MYH6

GO Terms for genes affiliated with Myosin Storage Myopathy

About this section

Cellular components related to Myosin Storage Myopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1myosin filamentGO:0329829.2MYH7, MYH6
2muscle myosin complexGO:0058599.1MYH6, MYH7
3myosin complexGO:0164599.1MYH7, MYH6
4sarcomereGO:0300179.0MYH6, MYH7
5focal adhesionGO:0059259.0MYH7, MYH6
6stress fiberGO:0017258.9MYH7, MYH6
7Z discGO:0300188.7MYH6, MYH7

Biological processes related to Myosin Storage Myopathy according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1adult heart developmentGO:0075129.2MYH7, MYH6
2striated muscle contractionGO:0069419.2MYH6, MYH7
3regulation of the force of heart contractionGO:0020269.1MYH6, MYH7
4ventricular cardiac muscle tissue morphogenesisGO:0550109.1MYH7, MYH6
5regulation of heart rateGO:0020279.0MYH6, MYH7
6ATP catabolic processGO:0062009.0MYH6, MYH7
7muscle filament slidingGO:0300498.9MYH6, MYH7
8muscle contractionGO:0069368.7MYH7, MYH6

Molecular functions related to Myosin Storage Myopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1actin-dependent ATPase activityGO:0308989.1MYH7, MYH6
2microfilament motor activityGO:0001469.0MYH6, MYH7
3actin bindingGO:0037799.0MYH7, MYH6
4calmodulin bindingGO:0055168.7MYH7, MYH6
5ATPase activityGO:0168878.6MYH7, MYH6, DNAH8
6ATP bindingGO:0055248.4DNAH8, MYH7, MYH6

Products for genes affiliated with Myosin Storage Myopathy

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Myosin Storage 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