MCID: MYP054
MIFTS: 23

Myopathy, Myosin Storage malady

Genetic diseases (common) category

Aliases & Classifications for Myopathy, Myosin Storage

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Myopathy, Myosin Storage, Aliases & Descriptions:

Name: Myopathy, Myosin Storage 45 10 60
Myosin Storage Myopathy 21 22
 
Autosomal Dominant Hyaline Body Myopathy 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM45 608358

Summaries for Myopathy, Myosin Storage

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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: Myopathy, Myosin Storage, also known as myosin storage myopathy, is related to myopathy and myh7-related myosin storage myopathy, and has symptoms including autosomal dominant inheritance, abnormality of the cardiovascular system and waddling gait. An important gene associated with Myopathy, Myosin Storage is MYH7 (myosin, heavy chain 7, cardiac muscle, beta). Affiliated tissues include skeletal muscle.

OMIM:45 Myosin storage myopathy, also known as hyaline body myopathy, is a congenital myopathy characterized by the... (608358) more...

Related Diseases for Myopathy, Myosin Storage

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Diseases in the Myopathy, Myosin Storage family:

Myh7-Related Myosin Storage Myopathy

Diseases related to Myopathy, Myosin Storage via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1myopathy10.5
2myh7-related myosin storage myopathy10.5
3dilated cardiomyopathy10.3
4scoliosis10.3
5congenital fiber-type disproportion10.3

Graphical network of diseases related to Myopathy, Myosin Storage:



Diseases related to myopathy, myosin storage

Symptoms for Myopathy, Myosin Storage

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Symptoms by clinical synopsis from OMIM:

608358

Clinical features from OMIM:

608358

HPO human phenotypes related to Myopathy, Myosin Storage:

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

Drugs & Therapeutics for Myopathy, Myosin Storage

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Drug clinical trials:

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Genetic Tests for Myopathy, Myosin Storage

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Genetic tests related to Myopathy, Myosin Storage:

id Genetic test Affiliating Genes
1 Myopathy, Myosin Storage22

Anatomical Context for Myopathy, Myosin Storage

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MalaCards organs/tissues related to Myopathy, Myosin Storage:

31
Skeletal muscle

Animal Models for Myopathy, Myosin Storage or affiliated genes

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Publications for Myopathy, Myosin Storage

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Variations for Myopathy, Myosin Storage

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

62
id Symbol AA change Variation ID SNP ID
1MYH7p.Arg1845TrpVAR_017754rs28933098
2MYH7p.His1901LeuVAR_042840

Clinvar genetic disease variations for Myopathy, Myosin Storage:

6
id Gene Variation 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 Myopathy, Myosin Storage

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

Pathways for genes affiliated with Myopathy, Myosin Storage

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Compounds for genes affiliated with Myopathy, Myosin Storage

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GO Terms for genes affiliated with Myopathy, Myosin Storage

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Products for genes affiliated with Myopathy, Myosin Storage

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Sources for Myopathy, Myosin Storage

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet