MCID: MYS032
MIFTS: 31

Myosin Storage Myopathy malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Myosin Storage Myopathy

About this section

Aliases & Descriptions for Myosin Storage Myopathy:

Name: Myosin Storage Myopathy 45 23
Myopathy, Myosin Storage 24 65
 
Hyaline Body Myopathy 45 51
Autosomal Dominant Hyaline Body Myopathy 23

Classifications:



External Ids:

Orphanet51 53698
ICD10 via Orphanet28 G71.2
UMLS65 C1842160

Summaries for Myosin Storage Myopathy

About this section
NIH Rare Diseases:45 Myosin storage myopathy is an inherited condition that affects the muscles. signs and symptoms generally begin during infancy or early childhood; however, some affected people may not develop symptoms until early adulthood and there are even reports of people who are asymptomatic into their 40s. myosin storage myopathy is primarily characterized by muscle weakness with minimal or very slow progression. as a result, affected people may experience delayed motor milestones (i.e. walking), trouble climbing stairs, difficulty lifting arms above shoulder level, and less commonly, breathing problems. myosin storage myopathy is caused by changes (mutations) in the myh7 gene and is typically inherited in an autosomal dominant manner. treatment is generally supportive and may include orthopedic treatments, as well as physical, occupational or speech therapy. last updated: 2/8/2016

MalaCards based summary: Myosin Storage Myopathy, also known as myopathy, myosin storage, is related to myh7-related myosin storage myopathy and myopathy, and has symptoms including waddling gaitand waddling gait. An important gene associated with Myosin Storage Myopathy is MYH7 (Myosin, Heavy Chain 7, Cardiac Muscle, Beta), and among its related pathways are Allograft rejection and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. Affiliated tissues include spinal cord, colon and pituitary.

Genetics Home Reference:23 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.

Related Diseases for Myosin Storage Myopathy

About this section

Graphical network of the top 20 diseases related to Myosin Storage Myopathy:



Diseases related to myosin storage myopathy

Symptoms for Myosin Storage Myopathy

About this section

UMLS symptoms related to Myosin Storage Myopathy:


waddling gait

Drugs & Therapeutics for Myosin Storage Myopathy

About this section

Interventional clinical trials:

idNameStatusNCT IDPhase
1Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402

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

MalaCards organs/tissues related to Myosin Storage Myopathy:

33
Spinal cord, Colon, Pituitary

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 12)
idTitleAuthorsYear
1
Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: Scapuloperoneal and respiratory weakness with dilated cardiomyopathy. (25666907)
2015
2
A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy. (21288719)
2011
3
Scoliosis surgery in a patient with "de novo" myosin storage myopathy. (21723124)
2011
4
Myosin storage myopathy: a rare subtype of protein aggregate myopathies]. (20376763)
2010
5
Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms. (19336582)
2009
6
Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation. (19138847)
2009
7
MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy. (17336526)
2007
8
Myosin storage myopathy with cardiomyopathy. (17588755)
2007
9
Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy. (17372140)
2007
10
Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred. (16684601)
2006
11
Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases. (15699387)
2005
12
Myosin storage myopathy associated with a heterozygous missense mutation in MYH7. (14520662)
2003

Variations for Myosin Storage Myopathy

About this section

Clinvar genetic disease variations for Myosin Storage Myopathy:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MYH7NM_000257.3(MYH7): c.5533C> T (p.Arg1845Trp)single nucleotide variantPathogenicrs28933098GRCh37Chr 14, 23884230: 23884230

Expression for genes affiliated with Myosin Storage Myopathy

About this section
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 Suite gene sharing:

(show all 12)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1MYH6, MYH7
2
Show member pathways
9.1MYH6, MYH7
3
Show member pathways
9.1MYH6, MYH7
4
Show member pathways
9.1MYH6, MYH7
5
Show member pathways
9.1MYH6, MYH7
6
Show member pathways
9.1MYH6, MYH7
7
Show member pathways
9.1MYH6, MYH7
89.1MYH6, MYH7
99.1MYH6, MYH7
10
Show member pathways
9.1MYH6, MYH7
11
Show member pathways
9.1MYH6, MYH7
129.1MYH6, MYH7

GO Terms for genes affiliated with Myosin Storage Myopathy

About this section

Biological processes related to Myosin Storage Myopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ATP metabolic processGO:00460349.1MYH6, MYH7
2muscle filament slidingGO:00300498.8MYH6, MYH7

Sources for Myosin Storage Myopathy

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet