MCID: MYS032
MIFTS: 31

Myosin Storage Myopathy malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Myosin Storage Myopathy

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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

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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, myosin storage, autosomal dominant. 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 colon.

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

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



Diseases related to myosin storage myopathy

Symptoms for Myosin Storage Myopathy

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Drugs & Therapeutics for Myosin Storage Myopathy

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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

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Anatomical Context for Myosin Storage Myopathy

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MalaCards organs/tissues related to Myosin Storage Myopathy:

33
Colon

Animal Models for Myosin Storage Myopathy or affiliated genes

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Publications for Myosin Storage Myopathy

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Articles related to Myosin Storage Myopathy:

(show all 12)
idTitleAuthorsYear
1
The use of effective treatments: the case of an adolescent girl with anorexia nervosa in the context of a conversion disorder. (22696600)
2013
2
Identifying colon cancer risk modules with better classification performance based on human signaling network. (24239682)
2013
3
Initial combination with linagliptin and metformin in newly diagnosed type 2 diabetes and severe hyperglycemia. (23212658)
2012
4
Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita. (22341970)
2012
5
The human antimicrobial peptide LL-37 transfers extracellular DNA plasmid to the nuclear compartment of mammalian cells via lipid rafts and proteoglycan-dependent endocytosis. (14963039)
2004
6
Drug treatment of orthostatic hypotension and vasovagal syncope. (12549988)
2003
7
Inhibin B plasma concentrations in infertile patients with DAZ gene deletions treated with FSH. (12039700)
2002
8
Genetic alterations in gastric cancers from British patients. (11376803)
2001
9
Corneal myxoma associated with keratoconus and Down's syndrome. (10928779)
2000
10
Central administration of leptin inhibits food intake and activates the sympathetic nervous system in rhesus macaques. (10022442)
1999
11
Low-dose cyclophosphamide in combination with cisplatin or epirubicin plus rhG-CSF allows adequate collection of PBSC for autotransplantation during adjuvant therapy for high-risk cancer. (7536071)
1994
12
Syphilitic paronychia: an unusual complaint. (5012150)
1972

Variations for Myosin Storage Myopathy

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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

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

Pathways for genes affiliated with Myosin Storage Myopathy

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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

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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

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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