MCID: HYL005
MIFTS: 40

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 15
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, congenital, 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.

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

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

(show top 50) (show all 83)
# Related Disease Score Top Affiliating Genes
1 myopathy, myosin storage, autosomal dominant 32.6 SLURP1 MYH7 MMD AS3MT ARSI ARSH
2 myopathy, congenital 30.4 TTN TPM3 SELENON NEB MYH7 MYH6
3 atrial standstill 1 30.3 TTN MYOT MYH7 MYH6
4 muscle hypertrophy 30.1 TTN MYH7 MYH6
5 myopathy, distal, 1 29.8 MYH8 MYH7 MYH6 MYH3 MYH2
6 miyoshi muscular dystrophy 29.7 TTN NEB MYOT MYH7 MYH6
7 dilated cardiomyopathy 28.6 TTN TPM3 MYOT MYH7 MYH6 ACTA1
8 muscular dystrophy 28.5 TTN SELENON NEB MYOT MYH7 MYH2
9 hypertrophic cardiomyopathy 28.3 TTN TRIM63 TPM3 MYH7 MYH6 ACTA1
10 congenital fiber-type disproportion 27.0 TTN TPM3 SELENON NEB MYOT MYH7
11 myopathy 26.7 TTN TRIM63 TRIM54 TPM3 SELENON NEB
12 myopathy, myosin storage, autosomal recessive 12.2
13 scapuloperoneal myopathy, myh7-related 10.3
14 cardiomyopathy, familial hypertrophic, 1 10.3
15 typical congenital nemaline myopathy 10.3 NEB ACTA1
16 severe congenital nemaline myopathy 10.3 NEB ACTA1
17 myopathy, myofibrillar, 4 10.3 NEB MYOT
18 myopathy, spheroid body 10.3 NEB MYOT
19 cardiomyopathy, dilated, 1e 10.3
20 nemaline myopathy 3 10.3 NEB ACTA1
21 autosomal dominant distal myopathy 10.2 MYOT MYH7 ACTA1
22 arthrogryposis, distal, type 7 10.2 MYH8 MYH3
23 reducing body myopathy 10.2 TTN NEB
24 cardioneuromyopathy with hyaline masses and nemaline rods 10.2 TTN NEB
25 muscular dystrophy, limb-girdle, autosomal recessive 7 10.1 TTN MYOT
26 arthrogryposis, distal, type 2a 10.1 MYH8 MYH6 MYH3
27 autosomal recessive limb-girdle muscular dystrophy type 2j 10.1 TTN MYOT
28 scapuloperoneal myopathy 10.1 MYOT MYH7 MYH6 ACTA1
29 autosomal recessive limb-girdle muscular dystrophy type 2g 10.1 TTN MYOT
30 multiple pterygium syndrome, escobar variant 10.1 NEB MYH8 MYH3
31 cardiomyopathy, dilated, 1b 10.1 TTN MYH7 MYH6
32 familial isolated dilated cardiomyopathy 10.1 TTN MYH7 MYH6
33 arthrogryposis, distal, type 5 10.0 MYH8 MYH6 MYH3 MYH2
34 scoliosis 10.0
35 reducing body myopathy 1a 10.0 TTN NEB MYOT
36 intrinsic cardiomyopathy 10.0 TTN MYH7 MYH6
37 autosomal recessive limb-girdle muscular dystrophy type 2a 10.0 TTN MYOT
38 tibial muscular dystrophy 10.0 TTN NEB MYOT
39 aortic valve disease 2 10.0 TTN MYH7 MYH6
40 atrial heart septal defect 10.0 TTN MYH7 MYH6
41 primary cutaneous amyloidosis 10.0 TTN NEB MYH6
42 foot drop 10.0 TTN NEB ACTA1
43 myopathy, myofibrillar, 2 10.0 SELENON MYOT
44 stormorken syndrome 10.0
45 muscular dystrophy, limb-girdle, autosomal recessive 1 10.0
46 limb-girdle muscular dystrophy 10.0
47 myotonic dystrophy 10.0
48 dysferlinopathy 10.0
49 posttransplant acute limbic encephalitis 10.0
50 qualitative or quantitative defects of dysferlin 10.0

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.28 ACTA1 MYH6 MYH7 NEB SELENON TPM3

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 165) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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.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.3235C>T (p.Arg1079Trp)SNV Conflicting interpretations of pathogenicity 164304 rs192722540 14:23891399-23891399 14:23422190-23422190
15 MYH7 NM_000257.4(MYH7):c.2526T>C (p.Ser842=)SNV Conflicting interpretations of pathogenicity 181161 rs554560162 14:23894131-23894131 14:23424922-23424922
16 MYH7 NM_000257.4(MYH7):c.*105T>CSNV Conflicting interpretations of pathogenicity 312888 rs200550717 14:23881958-23881958 14:23412749-23412749
17 MYH7 NM_000257.4(MYH7):c.4908C>T (p.Ala1636=)SNV Conflicting interpretations of pathogenicity 312893 rs150241539 14:23885258-23885258 14:23416049-23416049
18 MYH7 NM_000257.4(MYH7):c.4410G>A (p.Ser1470=)SNV Conflicting interpretations of pathogenicity 312896 rs578166720 14:23886471-23886471 14:23417262-23417262
19 MYH7 NM_000257.4(MYH7):c.4158C>T (p.Leu1386=)SNV Conflicting interpretations of pathogenicity 312899 rs886050418 14:23887430-23887430 14:23418221-23418221
20 MYH7 NM_000257.4(MYH7):c.3148C>A (p.Arg1050=)SNV Conflicting interpretations of pathogenicity 312902 rs730880767 14:23891486-23891486 14:23422277-23422277
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.895+12C>ASNV Conflicting interpretations of pathogenicity 255635 rs186276057 14:23900098-23900098 14:23430889-23430889
23 MYH7 NM_000257.4(MYH7):c.4134C>T (p.Asp1378=)SNV Conflicting interpretations of pathogenicity 264306 rs770630028 14:23887454-23887454 14:23418245-23418245
24 MYH7 NM_000257.4(MYH7):c.2877G>A (p.Leu959=)SNV Conflicting interpretations of pathogenicity 264448 rs886039162 14:23893161-23893161 14:23423952-23423952
25 MYH7 NM_000257.4(MYH7):c.5394C>T (p.Asp1798=)SNV Conflicting interpretations of pathogenicity 312890 rs777053791 14:23884369-23884369 14:23415160-23415160
26 MYH7 NM_000257.4(MYH7):c.2028T>C (p.Asn676=)SNV Conflicting interpretations of pathogenicity 312910 rs145564868 14:23896002-23896002 14:23426793-23426793
27 MYH7 NM_000257.4(MYH7):c.1179C>T (p.Ala393=)SNV Conflicting interpretations of pathogenicity 312913 rs143293426 14:23898516-23898516 14:23429307-23429307
28 MYH7 NM_000257.4(MYH7):c.-62C>TSNV Conflicting interpretations of pathogenicity 312922 rs45566639 14:23903456-23903456 14:23434247-23434247
29 MYH7 NM_000257.4(MYH7):c.4659C>T (p.His1553=)SNV Conflicting interpretations of pathogenicity 312895 rs570079347 14:23885507-23885507 14:23416298-23416298
30 MYH7 NM_000257.4(MYH7):c.3035C>A (p.Ala1012Asp)SNV Conflicting interpretations of pathogenicity 312903 rs779973529 14:23892820-23892820 14:23423611-23423611
31 MYH7 NM_000257.4(MYH7):c.5243G>A (p.Cys1748Tyr)SNV Conflicting interpretations of pathogenicity 180440 rs200303340 14:23884630-23884630 14:23415421-23415421
32 MYH7 NM_000257.4(MYH7):c.5726G>A (p.Arg1909Gln)SNV Conflicting interpretations of pathogenicity 181290 rs397516253 14:23883032-23883032 14:23413823-23413823
33 MYH7 NM_000257.4(MYH7):c.4557C>T (p.Ser1519=)SNV Conflicting interpretations of pathogenicity 178081 rs150552664 14:23886164-23886164 14:23416955-23416955
34 MYH7 NM_000257.4(MYH7):c.1141G>A (p.Ala381Thr)SNV Conflicting interpretations of pathogenicity 179272 rs727504753 14:23898554-23898554 14:23429345-23429345
35 MYH7 NM_000257.4(MYH7):c.350A>T (p.Tyr117Phe)SNV Conflicting interpretations of pathogenicity 179242 rs201012865 14:23902000-23902000 14:23432791-23432791
36 MYH7 NM_000257.4(MYH7):c.28G>C (p.Gly10Arg)SNV Conflicting interpretations of pathogenicity 177741 rs199577321 14:23902914-23902914 14:23433705-23433705
37 MYH7 NM_000257.4(MYH7):c.5507C>T (p.Ser1836Leu)SNV Conflicting interpretations of pathogenicity 164268 rs727503242 14:23884256-23884256 14:23415047-23415047
38 MYH7 NM_000257.4(MYH7):c.3621C>T (p.Ile1207=)SNV Conflicting interpretations of pathogenicity 138380 rs529700838 14:23889159-23889159 14:23419950-23419950
39 MYH7 NM_000257.4(MYH7):c.240C>T (p.Asn80=)SNV Conflicting interpretations of pathogenicity 138387 rs200493975 14:23902398-23902398 14:23433189-23433189
40 MYH7 NM_000257.4(MYH7):c.540C>A (p.Ser180=)SNV Conflicting interpretations of pathogenicity 138388 rs369490861 14:23901069-23901069 14:23431860-23431860
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.5718A>C (p.Ala1906=)SNV Conflicting interpretations of pathogenicity 43084 rs45523233 14:23883040-23883040 14:23413831-23413831
43 MYH7 NM_000257.4(MYH7):c.5787G>A (p.Thr1929=)SNV Conflicting interpretations of pathogenicity 43091 rs397516257 14:23882971-23882971 14:23413762-23413762
44 MYH7 NM_000257.4(MYH7):c.5499C>T (p.Asn1833=)SNV Conflicting interpretations of pathogenicity 43072 rs3729831 14:23884264-23884264 14:23415055-23415055
45 MYH7 NM_000257.4(MYH7):c.5500G>A (p.Ala1834Thr)SNV Conflicting interpretations of pathogenicity 43073 rs143362532 14:23884263-23884263 14:23415054-23415054
46 MYH7 NM_000257.4(MYH7):c.3960G>A (p.Glu1320=)SNV Conflicting interpretations of pathogenicity 42981 rs147797612 14:23888398-23888398 14:23419189-23419189
47 MYH7 NM_000257.4(MYH7):c.4188G>A (p.Arg1396=)SNV Conflicting interpretations of pathogenicity 42995 rs200852418 14:23886877-23886877 14:23417668-23417668
48 MYH7 NM_000257.4(MYH7):c.4227C>G (p.Ala1409=)SNV Conflicting interpretations of pathogenicity 42998 rs148788346 14:23886838-23886838 14:23417629-23417629
49 MYH7 NM_000257.4(MYH7):c.4293C>T (p.Asp1431=)SNV Conflicting interpretations of pathogenicity 43007 rs45560242 14:23886772-23886772 14:23417563-23417563
50 MYH7 NM_000257.4(MYH7):c.4525A>C (p.Ile1509Leu)SNV Conflicting interpretations of pathogenicity 43024 rs397516221 14:23886196-23886196 14:23416987-23416987

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
13.07 MYH8 MYH7 MYH6 MYH3 MYH2 ACTA1
2
Show member pathways
12.86 MYH8 MYH7 MYH6 MYH3 MYH2 ACTA1
3
Show member pathways
12.72 MYH8 MYH7 MYH6 MYH3 MYH2 ACTA1
4
Show member pathways
12.72 MYH8 MYH7 MYH6 MYH3 MYH2 ACTA1
5
Show member pathways
12.64 TTN TPM3 NEB MYH8 MYH6 MYH3
6
Show member pathways
12.36 MYH8 MYH7 MYH6 MYH3 MYH2 ACTA1
7
Show member pathways
12.11 MYH8 MYH7 MYH6 MYH3 MYH2
8
Show member pathways
12.11 MYH8 MYH7 MYH6 MYH3 MYH2 ACTA1
9
Show member pathways
12.05 TTN TPM3 MYH7 MYH6
10 11.63 TPM3 MYH7 MYH6
11 11.18 MYH8 MYH7 MYH6 MYH3 MYH2 ACTA1
12 11.15 MYH8 MYH7 MYH6 MYH3 MYH2
13 11.02 TTN TPM3 NEB MYH8 MYH6 MYH3

GO Terms for Hyaline Body Myopathy

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.31 TTN TRIM63 TRIM54 TPM3 NEB MYOT
2 Z disc GO:0030018 9.87 TTN TRIM63 TRIM54 NEB MYOT MYH7
3 myosin complex GO:0016459 9.77 MYH8 MYH7 MYH6 MYH3 MYH2
4 actin cytoskeleton GO:0015629 9.76 TPM3 NEB MYOT ACTA1
5 stress fiber GO:0001725 9.71 TPM3 MYH7 MYH6 ACTA1
6 myosin filament GO:0032982 9.65 MYH8 MYH7 MYH6 MYH3 MYH2
7 contractile fiber GO:0043292 9.61 TRIM63 NEB MYH3
8 muscle myosin complex GO:0005859 9.55 MYH8 MYH7 MYH6 MYH3 MYH2
9 M band GO:0031430 9.51 TTN TRIM63
10 striated muscle thin filament GO:0005865 9.48 TTN ACTA1
11 myofibril GO:0030016 9.43 NEB MYH8 MYH7 MYH6 MYH3 MYH2
12 sarcomere GO:0030017 9.23 TTN NEB MYH8 MYH7 MYH6 MYH3

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 muscle filament sliding GO:0030049 9.61 TTN TPM3 NEB MYH8 MYH7 MYH6
2 cardiac muscle contraction GO:0060048 9.58 TTN MYH7 MYH6
3 skeletal muscle fiber development GO:0048741 9.55 SELENON ACTA1
4 ventricular cardiac muscle tissue morphogenesis GO:0055010 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 regulation of the force of heart contraction GO:0002026 9.51 MYH7 MYH6
8 skeletal muscle contraction GO:0003009 9.5 MYH8 MYH7 MYH3
9 cardiac muscle hypertrophy in response to stress GO:0014898 9.49 MYH7 MYH6
10 adult heart development GO:0007512 9.48 MYH7 MYH6
11 cardiac muscle fiber development GO:0048739 9.46 TTN MYH6
12 ATP metabolic process GO:0046034 9.46 MYH8 MYH7 MYH6 MYH3
13 skeletal muscle thin filament assembly GO:0030240 9.43 TTN ACTA1
14 striated muscle contraction GO:0006941 9.43 TTN MYH7 MYH6
15 muscle contraction GO:0006936 9.28 TTN TRIM63 TPM3 MYOT MYH8 MYH7

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 10.07 TTN MYH8 MYH7 MYH6 MYH3 MYH2
2 ATP binding GO:0005524 10.02 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 TPM3 NEB MYOT MYH8 MYH7 MYH6
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 9.51 MYH7 MYH6
9 sulfuric ester hydrolase activity GO:0008484 9.49 ARSI ARSH
10 arylsulfatase activity GO:0004065 9.46 ARSI ARSH
11 myosin phosphatase activity GO:0017018 9.43 MYH8 MYH6 MYH3
12 microfilament motor activity GO:0000146 9.35 MYH8 MYH7 MYH6 MYH3 MYH2
13 actin filament binding GO:0051015 9.23 TTN TPM3 NEB MYH8 MYH7 MYH6

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
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