MSMA
MCID: MYP105
MIFTS: 39

Myopathy, Myosin Storage, Autosomal Dominant (MSMA)

Categories: Genetic diseases, Muscle diseases

Aliases & Classifications for Myopathy, Myosin Storage, Autosomal Dominant

MalaCards integrated aliases for Myopathy, Myosin Storage, Autosomal Dominant:

Name: Myopathy, Myosin Storage, Autosomal Dominant 56 12 73 39
Msma 56 12 73
Myopathy with Lysis of Type I Myofibrils 56 12
Autosomal Dominant Hyaline Body Myopathy 12 15
Myopathy, Hyaline Body, Autosomal Dominant 56
Hyaline Body Myopathy Autosomal Dominant 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
clinical variability
see for an autosomal recessive form
onset ranges from childhood to adulthood
non-progressive and more severe progressive forms
allelic disorder to familial hypertrophic cardiomyopathy (cmh, ) and laing distal myopathy


HPO:

31
myopathy, myosin storage, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course onset slow progression


Classifications:



External Ids:

Disease Ontology 12 DOID:0111269
OMIM 56 608358
MeSH 43 D009135
MedGen 41 C1842160

Summaries for Myopathy, Myosin Storage, Autosomal Dominant

OMIM : 56 Myosin storage myopathy, also known as hyaline body myopathy, is a congenital myopathy characterized by the accumulation of ATPase and antibody positive myosin in hyaline subsarcolemmal bodies in type I muscle fibers. The clinical features are variable, with different patients displaying proximal, scapuloperoneal, or generalized weakness and progressive or nonprogressive courses (summary by Dye et al., 2006). (608358)

MalaCards based summary : Myopathy, Myosin Storage, Autosomal Dominant, also known as msma, is related to hyaline body myopathy and covid-19. An important gene associated with Myopathy, Myosin Storage, Autosomal Dominant is MYH7 (Myosin Heavy Chain 7), and among its related pathways/superpathways are Sphingolipid metabolism and Gamma carboxylation, hypusine formation and arylsulfatase activation. Affiliated tissues include skeletal muscle and skin, and related phenotypes are abnormality of the cardiovascular system and elevated serum creatine kinase

Disease Ontology : 12 A hyaline body myopathy that has material basis in heterozygous mutation in MYH7 on 14q11.2.

UniProtKB/Swiss-Prot : 73 Myopathy, myosin storage, autosomal dominant: A rare congenital myopathy characterized by subsarcolemmal hyalinized bodies in type 1 muscle fibers.

Related Diseases for Myopathy, Myosin Storage, Autosomal Dominant

Diseases in the Myopathy, Myosin Storage, Autosomal Dominant family:

Myopathy, Myosin Storage, Autosomal Recessive

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

# Related Disease Score Top Affiliating Genes
1 hyaline body myopathy 31.7 SLURP1 MYH7 MMD AS3MT ARSI ARSH
2 covid-19 10.4
3 myopathy 10.3
4 posttransplant acute limbic encephalitis 10.1
5 central core myopathy 10.1 MYH7 MMD
6 yaws 9.9 MYH9 MMD
7 cardiomyopathy, familial hypertrophic, 4 9.9 MYH9 MYH7
8 chondrodysplasia punctata syndrome 9.9 STS ARSH
9 ichthyosis, x-linked 9.8 STS ARSH
10 multiple sulfatase deficiency 9.6 STS ARSH

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



Diseases related to Myopathy, Myosin Storage, Autosomal Dominant

Symptoms & Phenotypes for Myopathy, Myosin Storage, Autosomal Dominant

Human phenotypes related to Myopathy, Myosin Storage, Autosomal Dominant:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 abnormality of the cardiovascular system 31 HP:0001626
2 elevated serum creatine kinase 31 HP:0003236
3 generalized muscle weakness 31 HP:0003324
4 waddling gait 31 HP:0002515
5 emg: myopathic abnormalities 31 HP:0003458
6 scapular winging 31 HP:0003691
7 type 1 muscle fiber predominance 31 HP:0003803
8 reduced vital capacity 31 HP:0002792
9 generalized limb muscle atrophy 31 HP:0009055
10 centrally nucleated skeletal muscle fibers 31 HP:0003687
11 calf muscle pseudohypertrophy 31 HP:0003707
12 scapuloperoneal amyotrophy 31 HP:0003697
13 scapuloperoneal weakness 31 HP:0003704

Symptoms via clinical synopsis from OMIM:

56
Muscle Soft Tissue:
scapuloperoneal weakness
'waddling' gait
centralized nuclei
muscle biopsy shows type 1 fiber predominance
scapuloperoneal atrophy
more
Cardiovascular Heart:
no hypertrophic cardiomyopathy

Laboratory Abnormalities:
increased serum creatine kinase

Respiratory Lung:
reduced vital capacity due to muscle weakness

Clinical features from OMIM:

608358

Drugs & Therapeutics for Myopathy, Myosin Storage, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Myopathy, Myosin Storage, Autosomal Dominant

Genetic Tests for Myopathy, Myosin Storage, Autosomal Dominant

Anatomical Context for Myopathy, Myosin Storage, Autosomal Dominant

MalaCards organs/tissues related to Myopathy, Myosin Storage, Autosomal Dominant:

40
Skeletal Muscle, Skin

Publications for Myopathy, Myosin Storage, Autosomal Dominant

Articles related to Myopathy, Myosin Storage, Autosomal Dominant:

(show top 50) (show all 254)
# Title Authors PMID Year
1
Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms. 56 6
19336582 2009
2
Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation. 6 56
19138847 2009
3
Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred. 6 56
16684601 2006
4
Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases. 6 56
15699387 2005
5
Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy. 56 6
15136674 2004
6
Autosomal dominant hyaline body myopathy: clinical variability and pathologic findings. 56 6
14663035 2003
7
Myosin storage myopathy associated with a heterozygous missense mutation in MYH7. 6 56
14520662 2003
8
Familial myopathy with probable lysis of myofibrils in type I fibers. 6 56
4104682 1971
9
MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy. 6
17336526 2007
10
Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy. 6
15699411 2005
11
Surplus protein myopathies. 56
11166159 2001
12
Autosomal dominant hyaline body myopathy presenting as scapuloperoneal syndrome: clinical features and muscle pathology. 56
9008527 1997
13
Hyaline body myopathy. 56
7522681 1994
14
Hyaline bodies in skeletal muscle of a patient with a mild chronic nonprogressive congenital myopathy. 56
7682901 1993
15
Congenital myopathy with cytoplasmic bodies. 56
6267501 1981
16
Department of Neurology, Northwestern University Medical School, Chicago, Illinois. 56
193343 1977
17
MSMA Recommends "Shelter-In-Place" to Missouri Governor to Curb COVID-19. 61
32308217 2020
18
MSMA Urges Congress Independent Physician Financial Stability in Economic COVID-19 Relief Legislation. 61
32308218 2020
19
MSMA Young Physician Leaders: Addressing Vulnerable Populations. 61
31911712 2019
20
MSMA Legislative Preview 2020. 61
31911707 2019
21
MSMA: Combatting the Vaping Epidemic. 61
31911706 2019
22
Your MSMA Council Welcome New Members!: (Joined between July 1-October 10, 2019). 61
31911730 2019
23
Child and family traumatic stress intervention (CFTSI) reduces parental posttraumatic stress symptoms: A multi-site meta-analysis (MSMA). 61
30947101 2019
24
Young Physician Leaders Represent MSMA at AMA. 61
30643331 2018
25
MSMA Alliance Full Court Press Against Opioids. 61
30643335 2018
26
MSMA Membership Is Vital for All State Physicians. 61
30643327 2018
27
MSMA Members in the News. 61
30228759 2018
28
MSMA Members in the News. 61
30228719 2018
29
MSMA Elects Leadership. 61
30228740 2018
30
MSMA Members in the News. 61
30228699 2018
31
The MSMA Headquarters Staff: Exceptional Service and Professionalism. 61
30228671 2018
32
Three-Dimensional Changes in the Upper Airway of Skeletal Class III Patients After Different Orthognathic Surgical Procedures. 61
28732224 2018
33
Impact of soil organic carbon on monosodium methyl arsenate (MSMA) sorption and species transformation. 61
28783547 2017
34
MSMA Members in the News. 61
30228657 2017
35
MSMA Members in the News. 61
30228629 2017
36
MSMA Members in the News. 61
30228606 2017
37
Model reference adaptive control based on kp model for magnetically controlled shape memory alloy actuators. 61
28574096 2017
38
Feed-forward control for magnetic shape memory alloy actuators based on the radial basis function neural network model. 61
28525678 2017
39
The history of arsenical pesticides and health risks related to the use of Agent Blue. 61
28664715 2017
40
MSMA Members in the News. 61
30228569 2017
41
MSMA Elects Leadership. 61
30228588 2017
42
MSMA Introduces: Medical Student Mentor Program. 61
30228565 2017
43
The Privilege to Meet MSMA Members. 61
30228548 2017
44
MSMA Members in the News. 61
30228551 2017
45
MSMA Members in the News. 61
30233092 2017
46
MSMA Supports Immunizations with GiveMeAShot.org. 61
30398724 2017
47
MSMA Members in the News. 61
30228531 2016
48
Child Abuse & Neglect in Mississippi: Beginning the Conversation. 61
30281237 2016
49
Belonging to MSMA and Advocating for Medicine: Why It Matters for All Physicians. 61
30228513 2016
50
The Inaugural Address of the 149th President LEE VOULTERS, MD - 2016-17 MSMA PRESIDENT AUGUST 12, 2016 - HILTON JACKSON. 61
30281224 2016

Variations for Myopathy, Myosin Storage, Autosomal Dominant

ClinVar genetic disease variations for Myopathy, Myosin Storage, Autosomal Dominant:

6 (show top 50) (show all 164) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MYH7 NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp)SNV Pathogenic 14102 rs3218714 14:23898488-23898488 14:23429279-23429279
2 MYH7 NM_000257.4(MYH7):c.5533C>T (p.Arg1845Trp)SNV Pathogenic 14114 rs28933098 14:23884230-23884230 14:23415021-23415021
3 MYH7 NM_000257.4(MYH7):c.5702A>T (p.His1901Leu)SNV Pathogenic 14117 rs121913649 14:23883056-23883056 14:23413847-23413847
4 MYH7 NM_000257.4(MYH7):c.5378T>C (p.Leu1793Pro)SNV Pathogenic 14123 rs121913654 14:23884385-23884385 14:23415176-23415176
5 MYH7 NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly)SNV Pathogenic 14125 rs267606908 14:23893321-23893321 14:23424112-23424112
6 MYH7 NM_000257.4(MYH7):c.1988G>A (p.Arg663His)SNV Pathogenic 42875 rs371898076 14:23896042-23896042 14:23426833-23426833
7 MYH7 NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)SNV Pathogenic/Likely pathogenic 42901 rs3218716 14:23894525-23894525 14:23425316-23425316
8 MYH7 NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys)SNV Pathogenic/Likely pathogenic 42874 rs397516127 14:23896043-23896043 14:23426834-23426834
9 MYH7 NM_000257.4(MYH7):c.746G>A (p.Arg249Gln)SNV Pathogenic/Likely pathogenic 14088 rs3218713 14:23900677-23900677 14:23431468-23431468
10 MYH7 NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys)SNV Pathogenic/Likely pathogenic 14092 rs121913628 14:23893268-23893268 14:23424059-23424059
11 MYH7 NM_000257.4(MYH7):c.715G>A (p.Asp239Asn)SNV Pathogenic/Likely pathogenic 43100 rs397516264 14:23900811-23900811 14:23431602-23431602
12 MYH7 NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln)SNV Pathogenic/Likely pathogenic 164312 rs397516171 14:23893250-23893250 14:23424041-23424041
13 MYH7 NM_000257.4(MYH7):c.1544T>C (p.Met515Thr)SNV Likely pathogenic 216968 rs863224900 14:23897743-23897743 14:23428534-23428534
14 MYH7 NM_000257.4(MYH7):c.2028T>C (p.Asn676=)SNV Conflicting interpretations of pathogenicity 312910 rs145564868 14:23896002-23896002 14:23426793-23426793
15 MYH7 NM_000257.4(MYH7):c.1179C>T (p.Ala393=)SNV Conflicting interpretations of pathogenicity 312913 rs143293426 14:23898516-23898516 14:23429307-23429307
16 MYH7 NM_000257.4(MYH7):c.5394C>T (p.Asp1798=)SNV Conflicting interpretations of pathogenicity 312890 rs777053791 14:23884369-23884369 14:23415160-23415160
17 MYH7 NM_000257.4(MYH7):c.-62C>TSNV Conflicting interpretations of pathogenicity 312922 rs45566639 14:23903456-23903456 14:23434247-23434247
18 MYH7 NM_000257.4(MYH7):c.4659C>T (p.His1553=)SNV Conflicting interpretations of pathogenicity 312895 rs570079347 14:23885507-23885507 14:23416298-23416298
19 MYH7 NM_000257.4(MYH7):c.3035C>A (p.Ala1012Asp)SNV Conflicting interpretations of pathogenicity 312903 rs779973529 14:23892820-23892820 14:23423611-23423611
20 MYH7 NM_000257.4(MYH7):c.2526T>C (p.Ser842=)SNV Conflicting interpretations of pathogenicity 181161 rs554560162 14:23894131-23894131 14:23424922-23424922
21 MYH7 NM_000257.4(MYH7):c.895+12C>ASNV Conflicting interpretations of pathogenicity 255635 rs186276057 14:23900098-23900098 14:23430889-23430889
22 MYH7 NM_000257.4(MYH7):c.4134C>T (p.Asp1378=)SNV Conflicting interpretations of pathogenicity 264306 rs770630028 14:23887454-23887454 14:23418245-23418245
23 MYH7 NM_000257.4(MYH7):c.2877G>A (p.Leu959=)SNV Conflicting interpretations of pathogenicity 264448 rs886039162 14:23893161-23893161 14:23423952-23423952
24 MYH7 NM_000257.4(MYH7):c.*105T>CSNV Conflicting interpretations of pathogenicity 312888 rs200550717 14:23881958-23881958 14:23412749-23412749
25 MYH7 NM_000257.4(MYH7):c.4908C>T (p.Ala1636=)SNV Conflicting interpretations of pathogenicity 312893 rs150241539 14:23885258-23885258 14:23416049-23416049
26 MYH7 NM_000257.4(MYH7):c.4410G>A (p.Ser1470=)SNV Conflicting interpretations of pathogenicity 312896 rs578166720 14:23886471-23886471 14:23417262-23417262
27 MYH7 NM_000257.4(MYH7):c.4158C>T (p.Leu1386=)SNV Conflicting interpretations of pathogenicity 312899 rs886050418 14:23887430-23887430 14:23418221-23418221
28 MYH7 NM_000257.4(MYH7):c.3148C>A (p.Arg1050=)SNV Conflicting interpretations of pathogenicity 312902 rs730880767 14:23891486-23891486 14:23422277-23422277
29 MYH7 NM_000257.4(MYH7):c.2692C>T (p.Leu898=)SNV Conflicting interpretations of pathogenicity 312909 rs727504407 14:23893346-23893346 14:23424137-23424137
30 MYH7 NM_000257.4(MYH7):c.5243G>A (p.Cys1748Tyr)SNV Conflicting interpretations of pathogenicity 180440 rs200303340 14:23884630-23884630 14:23415421-23415421
31 MYH7 NM_000257.4(MYH7):c.5726G>A (p.Arg1909Gln)SNV Conflicting interpretations of pathogenicity 181290 rs397516253 14:23883032-23883032 14:23413823-23413823
32 MYH7 NM_000257.4(MYH7):c.3235C>T (p.Arg1079Trp)SNV Conflicting interpretations of pathogenicity 164304 rs192722540 14:23891399-23891399 14:23422190-23422190
33 MYH7 NM_000257.4(MYH7):c.3621C>T (p.Ile1207=)SNV Conflicting interpretations of pathogenicity 138380 rs529700838 14:23889159-23889159 14:23419950-23419950
34 MYH7 NM_000257.4(MYH7):c.240C>T (p.Asn80=)SNV Conflicting interpretations of pathogenicity 138387 rs200493975 14:23902398-23902398 14:23433189-23433189
35 MYH7 NM_000257.4(MYH7):c.540C>A (p.Ser180=)SNV Conflicting interpretations of pathogenicity 138388 rs369490861 14:23901069-23901069 14:23431860-23431860
36 MYH7 NM_000257.4(MYH7):c.4557C>T (p.Ser1519=)SNV Conflicting interpretations of pathogenicity 178081 rs150552664 14:23886164-23886164 14:23416955-23416955
37 MYH7 NM_000257.4(MYH7):c.1141G>A (p.Ala381Thr)SNV Conflicting interpretations of pathogenicity 179272 rs727504753 14:23898554-23898554 14:23429345-23429345
38 MYH7 NM_000257.4(MYH7):c.350A>T (p.Tyr117Phe)SNV Conflicting interpretations of pathogenicity 179242 rs201012865 14:23902000-23902000 14:23432791-23432791
39 MYH7 NM_000257.4(MYH7):c.28G>C (p.Gly10Arg)SNV Conflicting interpretations of pathogenicity 177741 rs199577321 14:23902914-23902914 14:23433705-23433705
40 MYH7 NM_000257.4(MYH7):c.5507C>T (p.Ser1836Leu)SNV Conflicting interpretations of pathogenicity 164268 rs727503242 14:23884256-23884256 14:23415047-23415047
41 MYH7 NM_000257.4(MYH7):c.976G>C (p.Ala326Pro)SNV Conflicting interpretations of pathogenicity 43117 rs372731424 14:23899792-23899792 14:23430583-23430583
42 MYH7 NM_000257.4(MYH7):c.5499C>T (p.Asn1833=)SNV Conflicting interpretations of pathogenicity 43072 rs3729831 14:23884264-23884264 14:23415055-23415055
43 MYH7 NM_000257.4(MYH7):c.5500G>A (p.Ala1834Thr)SNV Conflicting interpretations of pathogenicity 43073 rs143362532 14:23884263-23884263 14:23415054-23415054
44 MYH7 NM_000257.4(MYH7):c.5718A>C (p.Ala1906=)SNV Conflicting interpretations of pathogenicity 43084 rs45523233 14:23883040-23883040 14:23413831-23413831
45 MYH7 NM_000257.4(MYH7):c.5787G>A (p.Thr1929=)SNV Conflicting interpretations of pathogenicity 43091 rs397516257 14:23882971-23882971 14:23413762-23413762
46 MYH7 NM_000257.4(MYH7):c.4188G>A (p.Arg1396=)SNV Conflicting interpretations of pathogenicity 42995 rs200852418 14:23886877-23886877 14:23417668-23417668
47 MYH7 NM_000257.4(MYH7):c.4227C>G (p.Ala1409=)SNV Conflicting interpretations of pathogenicity 42998 rs148788346 14:23886838-23886838 14:23417629-23417629
48 MYH7 NM_000257.4(MYH7):c.4293C>T (p.Asp1431=)SNV Conflicting interpretations of pathogenicity 43007 rs45560242 14:23886772-23886772 14:23417563-23417563
49 MYH7 NM_000257.4(MYH7):c.4525A>C (p.Ile1509Leu)SNV Conflicting interpretations of pathogenicity 43024 rs397516221 14:23886196-23886196 14:23416987-23416987
50 MYH7 NM_000257.4(MYH7):c.1191G>A (p.Lys397=)SNV Conflicting interpretations of pathogenicity 42829 rs139506719 14:23898504-23898504 14:23429295-23429295

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

73
# Symbol AA change Variation ID SNP ID
1 MYH7 p.Arg1845Trp VAR_017754 rs28933098
2 MYH7 p.His1901Leu VAR_042840 rs121913649
3 MYH7 p.Leu1793Pro VAR_073886 rs121913654

Expression for Myopathy, Myosin Storage, Autosomal Dominant

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

Pathways for Myopathy, Myosin Storage, Autosomal Dominant

GO Terms for Myopathy, Myosin Storage, Autosomal Dominant

Cellular components related to Myopathy, Myosin Storage, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 stress fiber GO:0001725 9.16 MYH9 MYH7
2 endoplasmic reticulum lumen GO:0005788 9.13 STS ARSI ARSH
3 myosin complex GO:0016459 8.62 MYH9 MYH7

Molecular functions related to Myopathy, Myosin Storage, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microfilament motor activity GO:0000146 9.26 MYH9 MYH7
2 actin-dependent ATPase activity GO:0030898 9.16 MYH9 MYH7
3 sulfuric ester hydrolase activity GO:0008484 9.13 STS ARSI ARSH
4 arylsulfatase activity GO:0004065 8.8 STS ARSI ARSH

Sources for Myopathy, Myosin Storage, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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