MCID: HYL005
MIFTS: 41

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 20 58 6 15
Myosin Storage Myopathy 12 20 43 36 29 6
Autosomal Dominant Hyaline Body Myopathy 43

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

GARD : 20 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 batten-turner congenital myopathy, 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, and related phenotype is 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.

MedlinePlus Genetics : 43 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

Diseases related to Hyaline Body Myopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 88)
# Related Disease Score Top Affiliating Genes
1 myopathy, myosin storage, autosomal dominant 31.9 MYH7 MSMB AS3MT ARSI ARSH
2 batten-turner congenital myopathy 30.8 TTN SELENON NEB MYH7 MYH6 ACTA1
3 myopathy, distal, 1 30.1 MYH8 MYH7 MYH6 MYH2
4 scapuloperoneal myopathy 30.0 MYOT MYH7 MYH6 ACTA1
5 atrial standstill 1 29.8 TTN MYOT MYH7 MYH6 FLNC
6 miyoshi muscular dystrophy 29.4 TTN MYOT MYH7 MYH6 FLNC
7 dilated cardiomyopathy 29.2 TTN MYOT MYH7 MYH6 FLNC ACTA1
8 hypertrophic cardiomyopathy 29.2 TTN MYH7 MYH6 FLNC ACTA1
9 cardiomyopathy, familial hypertrophic, 1 29.0 TTN NEB MYH8 MYH7 MYH6 MYH3
10 congenital fiber-type disproportion 28.6 TTN SELENON NEB MYOT MYH7 MYH6
11 myopathy 28.1 TTN TRIM54 SELENON NEB MYOT MYH7
12 myopathy, myosin storage, autosomal recessive 11.5
13 scapuloperoneal myopathy, myh7-related 10.3
14 mobitz type ii atrioventricular block 10.3 MYH7 MYH6
15 cardiomyopathy, dilated, 1e 10.3
16 myopathy, proximal, with ophthalmoplegia 10.2 MYH6 MYH2
17 typical congenital nemaline myopathy 10.2 NEB ACTA1
18 tricuspid valve disease 10.2 MYH7 MYH6
19 scapuloperoneal syndrome, neurogenic, kaeser type 10.1 SELENON MYOT
20 nemaline myopathy 3 10.1 NEB ACTA1
21 autosomal dominant distal myopathy 10.1 MYOT MYH7 ACTA1
22 arthrogryposis, distal, type 7 10.1 MYH8 MYH3
23 rigid spine muscular dystrophy 10.1 SELENON ACTA1
24 intermediate congenital nemaline myopathy 10.1 NEB ACTA1
25 cardiac rupture 10.1 TRIM54 FLNC
26 severe congenital nemaline myopathy 10.1 NEB ACTA1
27 muscular dystrophy, limb-girdle, autosomal recessive 7 10.1 TTN MYOT
28 cardioneuromyopathy with hyaline masses and nemaline rods 10.1 TTN NEB
29 autosomal recessive limb-girdle muscular dystrophy type 2j 10.1 TTN MYOT
30 reducing body myopathy 10.1 TTN NEB
31 autosomal recessive limb-girdle muscular dystrophy type 2g 10.0 TTN MYOT
32 central core myopathy 10.0 SELENON NEB
33 muscle hypertrophy 10.0
34 scoliosis 10.0
35 skeletal muscle disease 10.0
36 mitral valve insufficiency 10.0 TTN MYH7 MYH6
37 malignant hyperthermia 10.0 SELENON MYH7 MYH6
38 cardiomyopathy, dilated, 1b 10.0 TTN MYH7 MYH6
39 multiple pterygium syndrome, escobar variant 10.0 NEB MYH8 MYH3
40 central core disease of muscle 10.0 SELENON NEB MYOT
41 myopathy, myofibrillar, 4 10.0 NEB MYOT FLNC
42 myopathy, spheroid body 10.0 NEB MYOT FLNC
43 stormorken syndrome 10.0
44 posttransplant acute limbic encephalitis 10.0
45 barth syndrome 10.0 TTN MYH7 MYH6
46 intrinsic cardiomyopathy 10.0 TTN MYH7 MYH6
47 aortic valve disease 2 10.0 TTN MYH7 MYH6
48 clubfoot 10.0 MYH8 MYH3 MYH2
49 myopathy, congenital, with fiber-type disproportion 10.0 SELENON MYH7 ACTA1
50 cardiomyopathy, familial hypertrophic, 4 9.9 TTN MYH7

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

MGI Mouse Phenotypes related to Hyaline Body Myopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.23 ACTA1 FLNC MYH6 MYH7 NEB SELENON

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 top 50) (show all 53)
# Title Authors PMID Year
1
Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms. 6 61
19336582 2009
2
Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation. 61 6
19138847 2009
3
MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy. 61 6
17336526 2007
4
Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred. 6 61
16684601 2006
5
Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases. 6 61
15699387 2005
6
Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy. 6 61
15699411 2005
7
Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy. 6 61
15136674 2004
8
Autosomal dominant hyaline body myopathy: clinical variability and pathologic findings. 61 6
14663035 2003
9
Myosin storage myopathy associated with a heterozygous missense mutation in MYH7. 6 61
14520662 2003
10
Familial myopathy with probable lysis of myofibrils in type I fibers. 6
4104682 1971
11
Impaired muscle morphology in a Drosophila model of myosin storage myopathy was supressed by overexpression of an E3 ubiquitin ligase. 61
33234710 2020
12
Laing Myopathy: Report of 4 New Families With Novel MYH7 Mutations, Double Mutations, and Severe Phenotype. 61
32833721 2020
13
Congenital myopathies: an update. 61
31578728 2020
14
Recessive MYH7-related myopathy in two families. 61
31130376 2019
15
A novel missense mutation in the MYH7 gene causes an uncharacteristic phenotype of myosin storage myopathy: a case report. 61
31068177 2019
16
MYH7 mutation associated with two phenotypes of myopathy. 61
29170849 2018
17
Myosin storage myopathy mutations yield defective myosin filament assembly in vitro and disrupted myofibrillar structure and function in vivo. 61
28973424 2017
18
Research progress of myosin heavy chain genes in human genetic diseases. 61
29070483 2017
19
Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report. 61
28927399 2017
20
Myosin Storage Myopathy in C. elegans and Human Cultured Muscle Cells. 61
28125727 2017
21
Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders. 61
27357428 2016
22
MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients. 61
27387980 2016
23
New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations. 61
25801283 2015
24
Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: scapuloperoneal and respiratory weakness with dilated cardiomyopathy. 61
25666907 2015
25
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy. 61
24664454 2014
26
A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies. 61
23478172 2013
27
[Myofibrillar myopaathy]. 61
24291893 2013
28
Myosinopathies: pathology and mechanisms. 61
22918376 2013
29
Protein aggregation in congenital myopathies. 61
22172423 2011
30
Scoliosis surgery in a patient with "de novo" myosin storage myopathy. 61
21723124 2011
31
A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy. 61
21288719 2011
32
MRI in the assessment of muscular pathology: a comparison between limb-girdle muscular dystrophies, hyaline body myopathies and myotonic dystrophies. 61
20177980 2010
33
[Myosin storage myopathy: a rare subtype of protein aggregate myopathies]. 61
20376763 2010
34
Congenital myopathies. 61
18367042 2008
35
Thick filament diseases. 61
19181095 2008
36
Myosin storage myopathy with cardiomyopathy. 61
17588755 2007
37
Congenital myopathies. 61
17885449 2007
38
Symptomatic distal myopathy with cardiomyopathy due to a MYH7 mutation. 61
17383184 2007
39
Hereditary myosin myopathies. 61
17434305 2007
40
Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy. 61
17372140 2007
41
Myosin storage (hyaline body) myopathy: a case report. 61
17118657 2006
42
Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy. 61
16103042 2006
43
Electron microscopy in neuromuscular disorders. 61
16316944 2005
44
Hyaline body myopathy: adulthood manifestations. 61
16018165 2005
45
Myopathies resulting from mutations in sarcomeric proteins. 61
15367857 2004
46
Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). 61
15322983 2004
47
Myopathies associated with myosin heavy chain mutations. 61
15605950 2004
48
Identification of a locus for an autosomal recessive hyaline body myopathy at chromosome 3p22.2-p21.32. 61
14659406 2004
49
Protein surplus myopathies and other rare congenital myopathies. 61
12139000 2002
50
Surplus protein myopathies. 61
11166159 2001

Variations for Hyaline Body Myopathy

ClinVar genetic disease variations for Hyaline Body Myopathy:

6 (show top 50) (show all 172)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MYH7 NM_000257.4(MYH7):c.5533C>T (p.Arg1845Trp) SNV Pathogenic 14114 rs28933098 14:23884230-23884230 14:23415021-23415021
2 MYH7 NM_000257.4(MYH7):c.5702A>T (p.His1901Leu) SNV Pathogenic 14117 rs121913649 14:23883056-23883056 14:23413847-23413847
3 MYH7 NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys) SNV Pathogenic 42874 rs397516127 14:23896043-23896043 14:23426834-23426834
4 MYH7 NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) SNV Pathogenic 14088 rs3218713 14:23900677-23900677 14:23431468-23431468
5 MYH7 NM_000257.4(MYH7):c.5378T>C (p.Leu1793Pro) SNV Pathogenic 14123 rs121913654 14:23884385-23884385 14:23415176-23415176
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 42901 rs3218716 14:23894525-23894525 14:23425316-23425316
8 MYH7 NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp) SNV Pathogenic 14102 rs3218714 14:23898488-23898488 14:23429279-23429279
9 MYH7 NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) SNV Pathogenic 14092 rs121913628 14:23893268-23893268 14:23424059-23424059
10 MYH7 NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly) SNV Pathogenic 14125 rs267606908 14:23893321-23893321 14:23424112-23424112
11 MYH7 NM_000257.4(MYH7):c.1988G>A (p.Arg663His) SNV Pathogenic 42875 rs371898076 14:23896042-23896042 14:23426833-23426833
12 MYH7 NM_000257.4(MYH7):c.1370T>G (p.Ile457Arg) SNV Likely pathogenic 560881 rs397516103 14:23898201-23898201 14:23428992-23428992
13 MYH7 NM_000257.4(MYH7):c.1495_1497GAG[1] (p.Glu500del) Microsatellite Likely pathogenic 525034 rs1555338254 14:23897787-23897789 14:23428578-23428580
14 MYH7 NM_000257.4(MYH7):c.1141G>A (p.Ala381Thr) SNV Likely pathogenic 179272 rs727504753 14:23898554-23898554 14:23429345-23429345
15 MYH7 NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) SNV Likely pathogenic 43100 rs397516264 14:23900811-23900811 14:23431602-23431602
16 MYH7 NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln) SNV Likely pathogenic 164312 rs397516171 14:23893250-23893250 14:23424041-23424041
17 MYH7 NM_000257.4(MYH7):c.1544T>C (p.Met515Thr) SNV Likely pathogenic 216968 rs863224900 14:23897743-23897743 14:23428534-23428534
18 MYH7 NM_000257.4(MYH7):c.5655+1G>C SNV Likely pathogenic 986378 14:23883215-23883215 14:23414006-23414006
19 MYH7 NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys) SNV Uncertain significance 36641 rs141764279 14:23887607-23887607 14:23418398-23418398
20 MYH7 NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr) SNV Uncertain significance 42953 rs45478699 14:23890217-23890217 14:23421008-23421008
21 MYH7 NM_000257.4(MYH7):c.327C>T (p.Tyr109=) SNV Uncertain significance 42952 rs36211408 14:23902311-23902311 14:23433102-23433102
22 MYH7 NM_000257.4(MYH7):c.4410G>A (p.Ser1470=) SNV Uncertain significance 312896 rs578166720 14:23886471-23886471 14:23417262-23417262
23 MYH7 NM_000257.4(MYH7):c.-47G>T SNV Uncertain significance 312921 rs886050425 14:23903441-23903441 14:23434232-23434232
24 MYH7 NM_000257.4(MYH7):c.1671G>T (p.Leu557=) SNV Uncertain significance 312912 rs149386750 14:23897011-23897011 14:23427802-23427802
25 MYH7 NM_000257.4(MYH7):c.2955G>A (p.Leu985=) SNV Uncertain significance 312905 rs886050420 14:23892900-23892900 14:23423691-23423691
26 MYH7 NM_000257.4(MYH7):c.4285_4287del (p.Met1429del) Deletion Uncertain significance 976028 14:23886778-23886780 14:23417569-23417571
27 MYH7 NM_000257.4(MYH7):c.4978G>C (p.Ala1660Pro) SNV Uncertain significance 976304 14:23885017-23885017 14:23415808-23415808
28 MYH7 NM_000257.4(MYH7):c.1138+7G>A SNV Uncertain significance 312915 rs886050423 14:23898977-23898977 14:23429768-23429768
29 MYH7 NM_000257.4(MYH7):c.540C>A (p.Ser180=) SNV Uncertain significance 138388 rs369490861 14:23901069-23901069 14:23431860-23431860
30 MYH7 NM_000257.4(MYH7):c.2028T>C (p.Asn676=) SNV Uncertain significance 312910 rs145564868 14:23896002-23896002 14:23426793-23426793
31 MYH7 NM_000257.4(MYH7):c.1000-13G>T SNV Uncertain significance 312916 rs772831757 14:23899135-23899135 14:23429926-23429926
32 MYH7 NM_000257.4(MYH7):c.4169+6T>G SNV Uncertain significance 312898 rs886050417 14:23887413-23887413 14:23418204-23418204
33 MYH7 NM_000257.4(MYH7):c.1749C>T (p.Ala583=) SNV Uncertain significance 312911 rs758665829 14:23896933-23896933 14:23427724-23427724
34 MYH7 NM_000257.4(MYH7):c.-39C>A SNV Uncertain significance 312920 rs886050424 14:23903433-23903433 14:23434224-23434224
35 MYH7 NM_000257.4(MYH7):c.5482G>A (p.Ala1828Thr) SNV Uncertain significance 312889 rs886050415 14:23884281-23884281 14:23415072-23415072
36 MYH7 NM_000257.4(MYH7):c.3934C>T (p.Leu1312=) SNV Uncertain significance 312901 rs886050419 14:23888424-23888424 14:23419215-23419215
37 MYH7 NM_000257.4(MYH7):c.3035C>A (p.Ala1012Asp) SNV Uncertain significance 312903 rs779973529 14:23892820-23892820 14:23423611-23423611
38 MYH7 NM_000257.4(MYH7):c.658A>C (p.Ile220Leu) SNV Uncertain significance 312917 rs779190577 14:23900868-23900868 14:23431659-23431659
39 MYH7 NM_000257.4(MYH7):c.895+12C>A SNV Uncertain significance 255635 rs186276057 14:23900098-23900098 14:23430889-23430889
40 MYH7 NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser) SNV Uncertain significance 191728 rs745414245 14:23886744-23886744 14:23417535-23417535
41 MYH7 NM_000257.4(MYH7):c.1755C>A (p.Ile585=) SNV Uncertain significance 42863 rs201860580 14:23896927-23896927 14:23427718-23427718
42 MYH7 NM_000257.4(MYH7):c.2936C>G (p.Thr979Arg) SNV Uncertain significance 312906 rs886050421 14:23892919-23892919 14:23423710-23423710
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.2526T>C (p.Ser842=) SNV Uncertain significance 181161 rs554560162 14:23894131-23894131 14:23424922-23424922
45 MYH7 NM_000257.4(MYH7):c.3148C>A (p.Arg1050=) SNV Uncertain significance 312902 rs730880767 14:23891486-23891486 14:23422277-23422277
46 MYH7 NM_000257.4(MYH7):c.-62C>T SNV Uncertain significance 312922 rs45566639 14:23903456-23903456 14:23434247-23434247
47 MYH7 NM_000257.4(MYH7):c.5208G>C (p.Gln1736His) SNV Uncertain significance 312891 rs886050416 14:23884665-23884665 14:23415456-23415456
48 MYH7 NM_000257.4(MYH7):c.733-3C>T SNV Uncertain significance 222732 rs765068619 14:23900693-23900693 14:23431484-23431484
49 MYH7 NM_000257.4(MYH7):c.1179C>T (p.Ala393=) SNV Uncertain significance 312913 rs143293426 14:23898516-23898516 14:23429307-23429307
50 MYH7 NM_000257.4(MYH7):c.3621C>T (p.Ile1207=) SNV Uncertain significance 138380 rs529700838 14:23889159-23889159 14:23419950-23419950

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

Pathways related to Hyaline Body Myopathy according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.14 MYH8 MYH7 MYH6 MYH3 MYH2 ACTA1
2
Show member pathways
13.07 MYH8 MYH7 MYH6 MYH3 MYH2 FLNC
3
Show member pathways
12.84 MYH8 MYH7 MYH6 MYH3 MYH2 ACTA1
4
Show member pathways
12.77 MYH8 MYH7 MYH6 MYH3 MYH2
5
Show member pathways
12.72 MYH8 MYH7 MYH6 MYH3 MYH2 ACTA1
6
Show member pathways
12.7 MYH8 MYH7 MYH6 MYH3 MYH2 ACTA1
7
Show member pathways
12.62 TTN NEB MYH8 MYH6 MYH3
8
Show member pathways
12.36 MYH8 MYH7 MYH6 MYH3 MYH2 ACTA1
9
Show member pathways
12.11 MYH8 MYH7 MYH6 MYH3 MYH2
10
Show member pathways
12.11 MYH8 MYH7 MYH6 MYH3 MYH2 ACTA1
11 11.18 MYH8 MYH7 MYH6 MYH3 MYH2 ACTA1
12 11.15 MYH8 MYH7 MYH6 MYH3 MYH2
13 10.96 TTN NEB MYH8 MYH6 MYH3 ACTA1

GO Terms for Hyaline Body Myopathy

Cellular components related to Hyaline Body Myopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.26 TTN TRIM54 NEB MYOT MYH8 MYH7
2 Z disc GO:0030018 9.87 TTN TRIM54 NEB MYOT MYH7 MYH6
3 myosin complex GO:0016459 9.77 MYH8 MYH7 MYH6 MYH3 MYH2
4 myosin filament GO:0032982 9.65 MYH8 MYH7 MYH6 MYH3 MYH2
5 stress fiber GO:0001725 9.58 MYH7 MYH6 ACTA1
6 muscle myosin complex GO:0005859 9.55 MYH8 MYH7 MYH6 MYH3 MYH2
7 contractile fiber GO:0043292 9.46 NEB MYH3
8 striated muscle thin filament GO:0005865 9.43 TTN ACTA1
9 myofibril GO:0030016 9.43 NEB MYH8 MYH7 MYH6 MYH3 MYH2
10 sarcomere GO:0030017 9.17 NEB MYH8 MYH7 MYH6 MYH3 MYH2

Biological processes related to Hyaline Body Myopathy according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cardiac muscle contraction GO:0060048 9.58 TTN MYH7 MYH6
2 skeletal muscle fiber development GO:0048741 9.56 SELENON ACTA1
3 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.55 MYH7 MYH6
4 regulation of the force of heart contraction GO:0002026 9.54 MYH7 MYH6
5 sarcomere organization GO:0045214 9.54 TTN MYH6 MYH3
6 actin filament-based movement GO:0030048 9.52 MYH6 MYH3
7 muscle fiber development GO:0048747 9.51 NEB FLNC
8 skeletal muscle contraction GO:0003009 9.5 MYH8 MYH7 MYH3
9 muscle contraction GO:0006936 9.5 TTN MYOT MYH8 MYH7 MYH6 MYH2
10 cardiac muscle hypertrophy in response to stress GO:0014898 9.49 MYH7 MYH6
11 adult heart development GO:0007512 9.48 MYH7 MYH6
12 cardiac muscle fiber development GO:0048739 9.46 TTN MYH6
13 ATP metabolic process GO:0046034 9.46 MYH8 MYH7 MYH6 MYH3
14 skeletal muscle thin filament assembly GO:0030240 9.43 TTN ACTA1
15 striated muscle contraction GO:0006941 9.43 TTN MYH7 MYH6
16 muscle filament sliding GO:0030049 9.23 TTN NEB MYH8 MYH7 MYH6 MYH3

Molecular functions related to Hyaline Body Myopathy according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 10.05 TTN MYH8 MYH7 MYH6 MYH3 MYH2
2 ATP binding GO:0005524 10 TTN MYH8 MYH7 MYH6 MYH3 MYH2
3 calmodulin binding GO:0005516 9.8 TTN MYH8 MYH7 MYH6 MYH3 MYH2
4 motor activity GO:0003774 9.77 MYH8 MYH7 MYH6 MYH3 MYH2
5 actin binding GO:0003779 9.76 NEB MYOT MYH8 MYH7 MYH6 MYH3
6 ATPase activity GO:0016887 9.73 MYH8 MYH7 MYH6 MYH3
7 structural constituent of muscle GO:0008307 9.71 TTN NEB MYOT MYH8
8 actin-dependent ATPase activity GO:0030898 9.52 MYH7 MYH6
9 actin filament binding GO:0051015 9.5 TTN NEB MYH8 MYH7 MYH6 MYH3
10 sulfuric ester hydrolase activity GO:0008484 9.49 ARSI ARSH
11 arylsulfatase activity GO:0004065 9.48 ARSI ARSH
12 myosin phosphatase activity GO:0017018 9.43 MYH8 MYH6 MYH3
13 microfilament motor activity GO:0000146 9.02 MYH8 MYH7 MYH6 MYH3 MYH2

Sources for Hyaline Body Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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