MCID: HYL005
MIFTS: 28

Hyaline Body Myopathy

Categories: Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Hyaline Body Myopathy

MalaCards integrated aliases for Hyaline Body Myopathy:

Name: Hyaline Body Myopathy 12 52 58 6
Myosin Storage Myopathy 12 52 25 36 29 6
Autosomal Dominant Hyaline Body Myopathy 25

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0111267
KEGG 36 H00703
ICD10 via Orphanet 33 G71.2
Orphanet 58 ORPHA53698

Summaries for Hyaline Body Myopathy

NIH Rare Diseases : 52 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.

MalaCards based summary : Hyaline Body Myopathy, also known as myosin storage myopathy, is related to myopathy, myosin storage, autosomal dominant and myopathy, myosin storage, autosomal recessive, and has symptoms including waddling gait An important gene associated with Hyaline Body Myopathy is MYH7 (Myosin Heavy Chain 7), and among its related pathways/superpathways are Cardiac muscle contraction and Tight junction. Affiliated tissues include skeletal muscle.

Disease Ontology : 12 A congenital myopathy characterized by accumulation of ATPase and antibody positive myosin in hyaline subsarcolemmal bodies in type I muscle fibers and a variable development of muscle weakness that has material basis in mutation in MYH7 on 14q11.2.

Genetics Home Reference : 25 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.

KEGG : 36 Myosin storage myopathy (MSM), also called hyaline body myopathy, is a rare congenital myopathy with variable inheritance characterized by the presence of sub-sarcolemmal hyaline bodies in type I muscle fibers and predominantly proximal muscle weakness. Clinically, patients exhibit variable age of onset ranging from birth through childhood, and occasionally middle age. Symptoms also vary, but typically include slowly progressive muscle hypertonia, scapularperoneal weakness, and respiratory insufficiency. MSM has been associated with 4 missense mutations in the MYH7 gene, which encodes slow/beta-cardiac myosin heavy chain (MyHC). The disease causing mutations in MYH7 are located in the alpha-helical coiled-coil tail.

Related Diseases for Hyaline Body Myopathy

Graphical network of the top 20 diseases related to Hyaline Body Myopathy:



Diseases related to Hyaline Body Myopathy

Symptoms & Phenotypes for Hyaline Body Myopathy

UMLS symptoms related to Hyaline Body Myopathy:


waddling gait

Drugs & Therapeutics for Hyaline Body Myopathy

Search Clinical Trials , NIH Clinical Center for Hyaline Body Myopathy

Genetic Tests for Hyaline Body Myopathy

Genetic tests related to Hyaline Body Myopathy:

# Genetic test Affiliating Genes
1 Myosin Storage Myopathy 29 MYH7

Anatomical Context for Hyaline Body Myopathy

MalaCards organs/tissues related to Hyaline Body Myopathy:

40
Skeletal Muscle

Publications for Hyaline Body Myopathy

Articles related to Hyaline Body Myopathy:

(show all 50)
# Title Authors PMID Year
1
Congenital myopathies: an update. 61
31578728 2020
2
Recessive MYH7-related myopathy in two families. 61
31130376 2019
3
A novel missense mutation in the MYH7 gene causes an uncharacteristic phenotype of myosin storage myopathy: a case report. 61
31068177 2019
4
MYH7 mutation associated with two phenotypes of myopathy. 61
29170849 2018
5
Myosin storage myopathy mutations yield defective myosin filament assembly in vitro and disrupted myofibrillar structure and function in vivo. 61
28973424 2017
6
Research progress of myosin heavy chain genes in human genetic diseases. 61
29070483 2017
7
Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report. 61
28927399 2017
8
Myosin Storage Myopathy in C. elegans and Human Cultured Muscle Cells. 61
28125727 2017
9
Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders. 61
27357428 2016
10
MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients. 61
27387980 2016
11
New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations. 61
25801283 2015
12
Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: scapuloperoneal and respiratory weakness with dilated cardiomyopathy. 61
25666907 2015
13
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy. 61
24664454 2014
14
A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies. 61
23478172 2013
15
Myosinopathies: pathology and mechanisms. 61
22918376 2013
16
[Myofibrillar myopaathy]. 61
24291893 2013
17
Protein aggregation in congenital myopathies. 61
22172423 2011
18
Scoliosis surgery in a patient with "de novo" myosin storage myopathy. 61
21723124 2011
19
A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy. 61
21288719 2011
20
MRI in the assessment of muscular pathology: a comparison between limb-girdle muscular dystrophies, hyaline body myopathies and myotonic dystrophies. 61
20177980 2010
21
[Myosin storage myopathy: a rare subtype of protein aggregate myopathies]. 61
20376763 2010
22
Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms. 61
19336582 2009
23
Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation. 61
19138847 2009
24
Congenital myopathies. 61
18367042 2008
25
Thick filament diseases. 61
19181095 2008
26
Myosin storage myopathy with cardiomyopathy. 61
17588755 2007
27
Congenital myopathies. 61
17885449 2007
28
Symptomatic distal myopathy with cardiomyopathy due to a MYH7 mutation. 61
17383184 2007
29
Hereditary myosin myopathies. 61
17434305 2007
30
MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy. 61
17336526 2007
31
Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy. 61
17372140 2007
32
Myosin storage (hyaline body) myopathy: a case report. 61
17118657 2006
33
Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred. 61
16684601 2006
34
Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy. 61
16103042 2006
35
Electron microscopy in neuromuscular disorders. 61
16316944 2005
36
Hyaline body myopathy: adulthood manifestations. 61
16018165 2005
37
Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy. 61
15699411 2005
38
Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases. 61
15699387 2005
39
Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). 61
15322983 2004
40
Myopathies resulting from mutations in sarcomeric proteins. 61
15367857 2004
41
Myopathies associated with myosin heavy chain mutations. 61
15605950 2004
42
Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy. 61
15136674 2004
43
Identification of a locus for an autosomal recessive hyaline body myopathy at chromosome 3p22.2-p21.32. 61
14659406 2004
44
Autosomal dominant hyaline body myopathy: clinical variability and pathologic findings. 61
14663035 2003
45
Myosin storage myopathy associated with a heterozygous missense mutation in MYH7. 61
14520662 2003
46
Protein surplus myopathies and other rare congenital myopathies. 61
12139000 2002
47
Surplus protein myopathies. 61
11166159 2001
48
Gene-related protein surplus myopathies. 61
11001821 2000
49
Autosomal dominant hyaline body myopathy presenting as scapuloperoneal syndrome: clinical features and muscle pathology. 61
9008527 1997
50
Hyaline body myopathy. 61
7522681 1994

Variations for Hyaline Body Myopathy

ClinVar genetic disease variations for Hyaline Body Myopathy:

6 (show top 50) (show all 119) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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.1987C>T (p.Arg663Cys)SNV Pathogenic/Likely pathogenic 42874 rs397516127 14:23896043-23896043 14:23426834-23426834
8 MYH7 NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)SNV Pathogenic/Likely pathogenic 42901 rs3218716 14:23894525-23894525 14:23425316-23425316
9 MYH7 NM_000257.4(MYH7):c.715G>A (p.Asp239Asn)SNV Pathogenic/Likely pathogenic 43100 rs397516264 14:23900811-23900811 14:23431602-23431602
10 MYH7 NM_000257.4(MYH7):c.746G>A (p.Arg249Gln)SNV Pathogenic/Likely pathogenic 14088 rs3218713 14:23900677-23900677 14:23431468-23431468
11 MYH7 NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys)SNV Pathogenic/Likely pathogenic 14092 rs121913628 14:23893268-23893268 14:23424059-23424059
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.1370T>G (p.Ile457Arg)SNV Likely pathogenic 560881 rs397516103 14:23898201-23898201 14:23428992-23428992
15 MYH7 NM_000257.4(MYH7):c.1749C>T (p.Ala583=)SNV Conflicting interpretations of pathogenicity 312911 rs758665829 14:23896933-23896933 14:23427724-23427724
16 MYH7 NM_000257.4(MYH7):c.976G>C (p.Ala326Pro)SNV Conflicting interpretations of pathogenicity 43117 rs372731424 14:23899792-23899792 14:23430583-23430583
17 MYH7 NM_000257.4(MYH7):c.540C>A (p.Ser180=)SNV Conflicting interpretations of pathogenicity 138388 rs369490861 14:23901069-23901069 14:23431860-23431860
18 MYH7 NM_000257.4(MYH7):c.895+12C>ASNV Conflicting interpretations of pathogenicity 255635 rs186276057 14:23900098-23900098 14:23430889-23430889
19 MYH7 NM_000257.4(MYH7):c.4908C>T (p.Ala1636=)SNV Conflicting interpretations of pathogenicity 312893 rs150241539 14:23885258-23885258 14:23416049-23416049
20 MYH7 NM_000257.4(MYH7):c.4158C>T (p.Leu1386=)SNV Conflicting interpretations of pathogenicity 312899 rs886050418 14:23887430-23887430 14:23418221-23418221
21 MYH7 NM_000257.4(MYH7):c.2692C>T (p.Leu898=)SNV Conflicting interpretations of pathogenicity 312909 rs727504407 14:23893346-23893346 14:23424137-23424137
22 MYH7 NM_000257.4(MYH7):c.5394C>T (p.Asp1798=)SNV Conflicting interpretations of pathogenicity 312890 rs777053791 14:23884369-23884369 14:23415160-23415160
23 MYH7 NM_000257.4(MYH7):c.2028T>C (p.Asn676=)SNV Conflicting interpretations of pathogenicity 312910 rs145564868 14:23896002-23896002 14:23426793-23426793
24 MYH7 NM_000257.4(MYH7):c.3235C>T (p.Arg1079Trp)SNV Conflicting interpretations of pathogenicity 164304 rs192722540 14:23891399-23891399 14:23422190-23422190
25 MYH7 NM_000257.4(MYH7):c.1141G>A (p.Ala381Thr)SNV Conflicting interpretations of pathogenicity 179272 rs727504753 14:23898554-23898554 14:23429345-23429345
26 MYH7 NM_000257.4(MYH7):c.1191G>A (p.Lys397=)SNV Conflicting interpretations of pathogenicity 42829 rs139506719 14:23898504-23898504 14:23429295-23429295
27 MYH7 NM_000257.4(MYH7):c.1000-7C>TSNV Conflicting interpretations of pathogenicity 42816 rs200129563 14:23899129-23899129 14:23429920-23429920
28 MYH7 NM_000257.4(MYH7):c.5718A>C (p.Ala1906=)SNV Conflicting interpretations of pathogenicity 43084 rs45523233 14:23883040-23883040 14:23413831-23413831
29 MYH7 NM_000257.4(MYH7):c.4188G>A (p.Arg1396=)SNV Conflicting interpretations of pathogenicity 42995 rs200852418 14:23886877-23886877 14:23417668-23417668
30 MYH7 NM_000257.4(MYH7):c.4293C>T (p.Asp1431=)SNV Conflicting interpretations of pathogenicity 43007 rs45560242 14:23886772-23886772 14:23417563-23417563
31 MYH7 NM_000257.4(MYH7):c.1983C>T (p.Asn661=)SNV Conflicting interpretations of pathogenicity 42873 rs146474860 14:23896047-23896047 14:23426838-23426838
32 MYH7 NM_000257.4(MYH7):c.2890G>C (p.Val964Leu)SNV Conflicting interpretations of pathogenicity 42938 rs45496496 14:23893148-23893148 14:23423939-23423939
33 MYH7 NM_000257.4(MYH7):c.3610G>C (p.Gly1204Arg)SNV Uncertain significance 42966 rs397516188 14:23889170-23889170 14:23419961-23419961
34 MYH7 NM_000257.4(MYH7):c.3830G>A (p.Arg1277Gln)SNV Uncertain significance 42976 rs397516195 14:23888715-23888715 14:23419506-23419506
35 MYH7 NM_000257.4(MYH7):c.2360G>A (p.Arg787His)SNV Uncertain significance 42900 rs376754645 14:23894554-23894554 14:23425345-23425345
36 MYH7 NM_000257.4(MYH7):c.3982G>A (p.Ala1328Thr)SNV Uncertain significance 42985 rs372727092 14:23887606-23887606 14:23418397-23418397
37 MYH7 NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys)SNV Uncertain significance 36641 rs141764279 14:23887607-23887607 14:23418398-23418398
38 MYH7 NM_000257.4(MYH7):c.1630A>G (p.Thr544Ala)SNV Uncertain significance 42858 rs397516119 14:23897052-23897052 14:23427843-23427843
39 MYH7 NM_000257.4(MYH7):c.5287G>A (p.Ala1763Thr)SNV Uncertain significance 177846 rs727504355 14:23884476-23884476 14:23415267-23415267
40 MYH7 NM_000257.4(MYH7):c.5326A>G (p.Ser1776Gly)SNV Uncertain significance 177629 rs369437262 14:23884437-23884437 14:23415228-23415228
41 MYH7 NM_000257.4(MYH7):c.5279C>T (p.Thr1760Met)SNV Uncertain significance 180024 rs727505294 14:23884594-23884594 14:23415385-23415385
42 MYH7 NM_000257.4(MYH7):c.5726G>A (p.Arg1909Gln)SNV Uncertain significance 181290 rs397516253 14:23883032-23883032 14:23413823-23413823
43 MYH7 NM_000257.4(MYH7):c.5606A>G (p.Asp1869Gly)SNV Uncertain significance 181288 rs730880824 14:23883265-23883265 14:23414056-23414056
44 MYH7 NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser)SNV Uncertain significance 191728 rs745414245 14:23886744-23886744 14:23417535-23417535
45 MYH7 NM_000257.4(MYH7):c.733-3C>TSNV Uncertain significance 222732 rs765068619 14:23900693-23900693 14:23431484-23431484
46 MYH7 NM_000257.4(MYH7):c.745C>G (p.Arg249Gly)SNV Uncertain significance 181322 rs730880852 14:23900678-23900678 14:23431469-23431469
47 MYH7 NM_000257.4(MYH7):c.5026C>T (p.Arg1676Trp)SNV Uncertain significance 312892 rs753115999 14:23884969-23884969 14:23415760-23415760
48 MYH7 NM_000257.4(MYH7):c.1000-13G>TSNV Uncertain significance 312916 rs772831757 14:23899135-23899135 14:23429926-23429926
49 MYH7 NM_000257.4(MYH7):c.3035C>A (p.Ala1012Asp)SNV Uncertain significance 312903 rs779973529 14:23892820-23892820 14:23423611-23423611
50 MYH7 NM_000257.4(MYH7):c.2955G>A (p.Leu985=)SNV Uncertain significance 312905 rs886050420 14:23892900-23892900 14:23423691-23423691

Expression for Hyaline Body Myopathy

Search GEO for disease gene expression data for Hyaline Body Myopathy.

Pathways for Hyaline Body Myopathy

Pathways related to Hyaline Body Myopathy according to KEGG:

36
# Name Kegg Source Accession
1 Cardiac muscle contraction hsa04260
2 Tight junction hsa04530

GO Terms for Hyaline Body Myopathy

Sources for Hyaline Body Myopathy

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
Content
Loading form....