SBM
MCID: MYP094
MIFTS: 41

Myopathy, Spheroid Body (SBM)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Myopathy, Spheroid Body

MalaCards integrated aliases for Myopathy, Spheroid Body:

Name: Myopathy, Spheroid Body 56 13 39
Spheroid Body Myopathy 12 52 58 73 36 29 54 6 15 71
Autosomal Dominant Spheroid Body Myopathy 52
Sbm 73

Characteristics:

Orphanet epidemiological data:

58
spheroid body myopathy
Inheritance: Autosomal dominant; Age of onset: All ages;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive disorder
highly variable severity
onset usually in third or fourth decade
onset in adolescence or young adulthood has been reported


HPO:

31
myopathy, spheroid body:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity onset slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0080091
OMIM 56 182920
OMIM Phenotypic Series 56 PS601419
KEGG 36 H01291
ICD10 via Orphanet 33 G71.8
UMLS via Orphanet 72 C1866785
Orphanet 58 ORPHA268129
MedGen 41 C1866785
UMLS 71 C1866785

Summaries for Myopathy, Spheroid Body

OMIM : 56 Spheroid body myopathy is a form of myofibrillar myopathy (MFM). Myofibrillar myopathy refers to a genetically heterogeneous group of muscular disorders characterized by a pathologic morphologic pattern of myofibrillar degradation and abnormal accumulation of proteins involved with the sarcomeric Z disc (summary by Foroud et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419). (182920)

MalaCards based summary : Myopathy, Spheroid Body, also known as spheroid body myopathy, is related to limb-girdle muscular dystrophy and neuromuscular disease, and has symptoms including waddling gait An important gene associated with Myopathy, Spheroid Body is MYOT (Myotilin), and among its related pathways/superpathways is Striated Muscle Contraction. Related phenotypes are tremor and dysphagia

KEGG : 36 Spheroid body myopathy (SBM) is a rare autosomal dominant neuromuscular disorder characterized by slowly progressing proximal muscle weakness and dysarthric nasal speech. The unique feature noted pathologically was the spheroid bodies found within the type I muscle fibers. SBM is caused by mutations in TTID/ MYOT. Myotilin induces actin filament bundling and stabilizes the assembled bundles.

UniProtKB/Swiss-Prot : 73 Spheroid body myopathy: Autosomal dominant form of myofibrillar myopathy (MFM), characterized by slowly progressing proximal muscle weakness and dysarthric nasal speech. There is no evidence of cardiomyopathy. Muscle biopsy shows spheroid bodies within the type I muscle fibers.

Related Diseases for Myopathy, Spheroid Body

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

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 limb-girdle muscular dystrophy 29.6 TRIM32 TCAP MYOT
2 neuromuscular disease 29.4 TCAP MYOT DES
3 myopathy, myofibrillar, 3 28.2 TRIM32 TCAP MYPN MYOZ1 MYOT LDB3
4 muscular dystrophy 28.1 TRIM32 TCAP NEB MYOT LDB3 FLNC
5 myofibrillar myopathy 27.8 TCAP NEBL NEB MYPN MYOZ1 MYOT
6 myopathy 27.5 TRIM32 TCAP NEB MYPN MYOT LMOD3
7 polycystic kidney disease 10.5
8 kidney disease 10.5
9 autosomal dominant distal myopathy 10.4 MYOT DES
10 colorectal cancer 10.3
11 familial isolated restrictive cardiomyopathy 10.3 MYPN FLNC
12 cardioneuromyopathy with hyaline masses and nemaline rods 10.3 NEB DES
13 childhood-onset nemaline myopathy 10.3 NEB MYPN
14 autosomal recessive limb-girdle muscular dystrophy type 2q 10.2 TCAP MYOT
15 autosomal recessive limb-girdle muscular dystrophy type 2l 10.2 TCAP MYOT
16 autosomal recessive limb-girdle muscular dystrophy type 2c 10.2 TCAP MYOT
17 polycystic kidney disease 1 with or without polycystic liver disease 10.2
18 spinal cord injury 10.2
19 nemaline myopathy 11, autosomal recessive 10.2 MYPN LMOD3
20 muscular dystrophy, limb-girdle, autosomal dominant 2 10.2 TCAP MYOT
21 typical congenital nemaline myopathy 10.2 NEB LMOD3
22 autosomal dominant limb-girdle muscular dystrophy 10.1 MYOT FLNC
23 autosomal recessive limb-girdle muscular dystrophy type 2b 10.1 TCAP MYOT
24 severe congenital nemaline myopathy 10.1 NEB LMOD3
25 central core disease of muscle 10.1 NEB MYOT DES
26 restrictive cardiomyopathy 10.1 MYPN FLNC DES
27 myopathy, myofibrillar, 2 10.1 MYOT LDB3 FLNC
28 myopathy, myofibrillar, 6 10.1 MYOT LDB3 FLNC
29 myopathy, myofibrillar, 5 10.1 MYOT LDB3 FLNC
30 muscular dystrophy, limb-girdle, autosomal dominant 1 10.1 TCAP MYOT DES
31 miyoshi muscular dystrophy 10.1 TCAP MYOT DES
32 atrial standstill 1 10.0 TCAP MYOT DES
33 scapuloperoneal myopathy 10.0 MYOT MYOM3
34 cytoplasmic body myopathy 10.0
35 congenital fiber-type disproportion 9.9 NEB MYOT LMOD3
36 myopathy, congenital 9.9 NEB LMOD3 DES
37 autosomal recessive limb-girdle muscular dystrophy type 2d 9.9 TCAP MYOT MYOM3
38 endocardial fibroelastosis 9.9 NEBL NEB MYPN
39 megacystis-microcolon-intestinal hypoperistalsis syndrome 9.9 LMOD3 DES
40 muscular dystrophy-dystroglycanopathy , type c, 1 9.9 TRIM32 MYOT
41 reducing body myopathy 9.9 TCAP NEB MYOT DES
42 arrhythmogenic right ventricular cardiomyopathy 9.8 MYPN LDB3 DES
43 muscular dystrophy-dystroglycanopathy , type c, 4 9.8 TRIM32 MYOT
44 congenital structural myopathy 9.8 NEB MYPN MYOT LMOD3
45 muscular dystrophy, limb-girdle, autosomal recessive 8 9.8 TRIM32 TCAP
46 muscular dystrophy, limb-girdle, autosomal recessive 6 9.7 TRIM32 TCAP
47 autosomal recessive limb-girdle muscular dystrophy type 2j 9.7 TRIM32 TCAP MYOT
48 muscular dystrophy, limb-girdle, autosomal recessive 7 9.7 TRIM32 TCAP MYOT
49 autosomal recessive limb-girdle muscular dystrophy type 2g 9.7 TRIM32 TCAP MYOT
50 autosomal recessive limb-girdle muscular dystrophy type 2h 9.7 TRIM32 TCAP MYOT

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



Diseases related to Myopathy, Spheroid Body

Symptoms & Phenotypes for Myopathy, Spheroid Body

Human phenotypes related to Myopathy, Spheroid Body:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 tremor 31 HP:0001337
2 dysphagia 31 HP:0002015
3 myopathy 31 HP:0003198
4 abnormality of metabolism/homeostasis 31 HP:0001939
5 waddling gait 31 HP:0002515
6 nasal speech 31 HP:0001611
7 proximal muscle weakness 31 HP:0003701
8 neck flexor weakness 31 HP:0003722
9 proximal amyotrophy 31 HP:0007126
10 distal muscle weakness 31 HP:0002460
11 absent achilles reflex 31 HP:0003438
12 broad-based gait 31 HP:0002136
13 elevated serum creatine kinase 31 HP:0003236

Symptoms via clinical synopsis from OMIM:

56
Abdomen Gastrointestinal:
dysphagia

Voice:
nasal speech

Head And Neck Neck:
neck flexor muscle weakness

Muscle Soft Tissue:
waddling gait
broad-based gait
muscle weakness, proximal
muscle weakness, distal
muscle atrophy, proximal
more
Laboratory Abnormalities:
increased serum creatine kinase

Respiratory:
respiratory difficulties due to muscle weakness in some patients

Clinical features from OMIM:

182920

UMLS symptoms related to Myopathy, Spheroid Body:


waddling gait

MGI Mouse Phenotypes related to Myopathy, Spheroid Body:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.61 DES FLNC LDB3 LMOD3 MYOZ1 NEB
2 muscle MP:0005369 9.28 DES FLNC LDB3 LMOD3 MYOZ1 MYPN

Drugs & Therapeutics for Myopathy, Spheroid Body

Search Clinical Trials , NIH Clinical Center for Myopathy, Spheroid Body

Genetic Tests for Myopathy, Spheroid Body

Genetic tests related to Myopathy, Spheroid Body:

# Genetic test Affiliating Genes
1 Spheroid Body Myopathy 29

Anatomical Context for Myopathy, Spheroid Body

Publications for Myopathy, Spheroid Body

Articles related to Myopathy, Spheroid Body:

(show all 19)
# Title Authors PMID Year
1
A mutation in myotilin causes spheroid body myopathy. 6 56 54 61
16380616 2005
2
Autosomal dominant "spheroid body myopathy". 6 56 61
571956 1978
3
Spheroid body myopathy revisited. 56 61
9270668 1997
4
Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. 6
25313375 2014
5
BAG3-related myofibrillar myopathy in a Chinese family. 6
21361913 2012
6
Myofibrillar Myopathy 6
20301672 2005
7
Transgenic mice expressing the myotilin T57I mutation unite the pathology associated with LGMD1A and MFM. 61 54
16801328 2006
8
Myofibrillar myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis of 10 cases. 61 54
8627346 1996
9
Expression of myotilin during chicken development. 61
25125173 2014
10
[Myofibrillar myopaathy]. 61
24291893 2013
11
Protein aggregation in congenital myopathies. 61
22172423 2011
12
Generalized muscle pseudo-hypertrophy and stiffness associated with the myotilin Ser55Phe mutation: a novel myotilinopathy phenotype? 61
19027924 2009
13
Targeted deletion of the muscular dystrophy gene myotilin does not perturb muscle structure or function in mice. 61
17074808 2007
14
[Spheroid body myopathy: case report]. 61
16100986 2005
15
[Cytoplasmic body myopathy (spheroid body myopathy)]. 61
11555982 2001
16
Familial desmin myopathies and cytoplasmic body myopathies. 54
8922062 1996
17
Desmin pathology in neuromuscular diseases. 61
8242173 1993
18
Congenital myopathies with "diagnostic" pathological features. 61
3323392 1987
19
Induction of spheroid cytoplasmic bodies in a rat muscle by local tetanus. 61
3014329 1986

Variations for Myopathy, Spheroid Body

ClinVar genetic disease variations for Myopathy, Spheroid Body:

6 (show all 25) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MYOT NM_006790.2(MYOT):c.116C>T (p.Ser39Phe)SNV Likely pathogenic 5839 rs121908461 5:137206456-137206456 5:137870767-137870767
2 MYOT NM_006790.2(MYOT):c.533G>A (p.Arg178His)SNV Conflicting interpretations of pathogenicity 351025 rs150293853 5:137213210-137213210 5:137877521-137877521
3 MYOT NM_006790.2(MYOT):c.343G>T (p.Ala115Ser)SNV Conflicting interpretations of pathogenicity 351023 rs114194130 5:137206683-137206683 5:137870994-137870994
4 MYOT NM_006790.2(MYOT):c.323A>C (p.Asn108Thr)SNV Conflicting interpretations of pathogenicity 281070 rs142416150 5:137206663-137206663 5:137870974-137870974
5 MYOT NM_006790.2(MYOT):c.*418T>CSNV Uncertain significance 351033 rs778508971 5:137223492-137223492 5:137887803-137887803
6 MYOT NM_006790.2(MYOT):c.-89deldeletion Uncertain significance 351021 rs886059966 5:137206252-137206252 5:137870563-137870563
7 MYOT NM_006790.2(MYOT):c.817-11T>CSNV Uncertain significance 351026 rs377759571 5:137219062-137219062 5:137883373-137883373
8 MYOT NM_006790.2(MYOT):c.*167A>GSNV Uncertain significance 351031 rs886059969 5:137223241-137223241 5:137887552-137887552
9 MYOT NM_006790.2(MYOT):c.1286C>G (p.Ala429Gly)SNV Uncertain significance 288959 rs144731446 5:137222648-137222648 5:137886959-137886959
10 MYOT NM_006790.2(MYOT):c.1203T>A (p.Asp401Glu)SNV Uncertain significance 167318 rs78633961 5:137222565-137222565 5:137886876-137886876
11 MYOT NM_006790.2(MYOT):c.-165C>TSNV Uncertain significance 351020 rs866748883 5:137206176-137206176 5:137870487-137870487
12 MYOT NM_006790.2(MYOT):c.1222T>C (p.Leu408=)SNV Uncertain significance 351028 rs886059968 5:137222584-137222584 5:137886895-137886895
13 MYOT NM_006790.2(MYOT):c.1401T>A (p.Asn467Lys)SNV Uncertain significance 351029 rs145427063 5:137222978-137222978 5:137887289-137887289
14 MYOT NM_006790.2(MYOT):c.335T>A (p.Ile112Asn)SNV Uncertain significance 351022 rs752723849 5:137206675-137206675 5:137870986-137870986
15 MYOT NM_006790.2(MYOT):c.-251A>GSNV Likely benign 351018 rs6863775 5:137203603-137203603 5:137867914-137867914
16 MYOT NM_006790.2(MYOT):c.-233C>ASNV Likely benign 351019 rs186433387 5:137203621-137203621 5:137867932-137867932
17 MYOT NM_006790.2(MYOT):c.*463C>TSNV Likely benign 351034 rs149535236 5:137223537-137223537 5:137887848-137887848
18 MYOT NM_006790.2(MYOT):c.1190+12A>GSNV Likely benign 351027 rs183456886 5:137221914-137221914 5:137886225-137886225
19 MYOT NM_006790.2(MYOT):c.*190C>GSNV Likely benign 351032 rs74711051 5:137223264-137223264 5:137887575-137887575
20 MYOT NM_006790.2(MYOT):c.981T>C (p.Asn327=)SNV Likely benign 198547 rs148479015 5:137219237-137219237 5:137883548-137883548
21 MYOT NM_006790.2(MYOT):c.1008G>T (p.Val336=)SNV Benign/Likely benign 198548 rs142828368 5:137219264-137219264 5:137883575-137883575
22 MYOT NM_006790.2(MYOT):c.780G>A (p.Ser260=)SNV Benign/Likely benign 129684 rs116773838 5:137217758-137217758 5:137882069-137882069
23 MYOT NM_006790.2(MYOT):c.149A>G (p.Gln50Arg)SNV Benign/Likely benign 129683 rs34717730 5:137206489-137206489 5:137870800-137870800
24 MYOT NM_006790.2(MYOT):c.617G>A (p.Gly206Asp)SNV Benign/Likely benign 95441 rs151094883 5:137213294-137213294 5:137877605-137877605
25 MYOT NM_006790.2(MYOT):c.*98G>ASNV Benign 351030 rs4288 5:137223172-137223172 5:137887483-137887483

UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Spheroid Body:

73
# Symbol AA change Variation ID SNP ID
1 MYOT p.Ser39Phe VAR_029532

Expression for Myopathy, Spheroid Body

Search GEO for disease gene expression data for Myopathy, Spheroid Body.

Pathways for Myopathy, Spheroid Body

Pathways related to Myopathy, Spheroid Body according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.66 TCAP NEB DES

GO Terms for Myopathy, Spheroid Body

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.07 TRIM32 TCAP SORBS2 PALLD NEBL NEB
2 cytoskeleton GO:0005856 9.91 PALLD NEB MYOT LMOD3 LDB3 FLNC
3 sarcolemma GO:0042383 9.58 MYOT FLNC DES
4 actin cytoskeleton GO:0015629 9.55 SORBS2 PALLD NEB MYOZ1 MYOT
5 myofibril GO:0030016 9.51 NEB LMOD3
6 I band GO:0031674 9.5 TCAP NEBL MYPN
7 M band GO:0031430 9.49 MYOM3 LMOD3
8 pseudopodium GO:0031143 9.48 MYOZ1 LDB3
9 contractile fiber GO:0043292 9.46 NEB DES
10 striated muscle thin filament GO:0005865 9.43 MYOM3 LMOD3
11 Z disc GO:0030018 9.4 TCAP SORBS2 PALLD NEBL NEB MYPN
12 sarcomere GO:0030017 9.26 TCAP NEB MYPN MYOM3

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 axon guidance GO:0007411 9.71 PALLD MYPN MYOT
2 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.7 PALLD MYPN MYOT
3 muscle contraction GO:0006936 9.56 MYOT MYOM3 LMOD3 DES
4 dendrite self-avoidance GO:0070593 9.51 PALLD MYPN
5 muscle filament sliding GO:0030049 9.5 TCAP NEB DES
6 cardiac myofibril assembly GO:0055003 9.49 TCAP MYOM3
7 cardiac muscle tissue morphogenesis GO:0055008 9.48 TCAP MYOM3
8 myofibril assembly GO:0030239 9.46 MYOZ1 LMOD3
9 cardiac muscle fiber development GO:0048739 9.43 TCAP MYOM3
10 skeletal muscle myosin thick filament assembly GO:0030241 9.4 TCAP MYOM3
11 cardiac muscle thin filament assembly GO:0071691 9.37 NEBL NEB
12 muscle fiber development GO:0048747 9.33 NEBL NEB FLNC
13 skeletal muscle thin filament assembly GO:0030240 9.13 TCAP MYOM3 LMOD3
14 sarcomere organization GO:0045214 9.02 TCAP MYPN MYOZ1 MYOM3 LDB3

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

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.7 PALLD NEBL MYPN MYOZ1 MYOT LDB3
2 cytoskeletal protein binding GO:0008092 9.65 NEBL MYPN LDB3 FLNC DES
3 actin filament binding GO:0051015 9.61 NEBL NEB MYOM3
4 cell-cell adhesion mediator activity GO:0098632 9.4 PALLD MYPN
5 tropomyosin binding GO:0005523 9.37 NEBL LMOD3
6 FATZ binding GO:0051373 9.32 TCAP MYOZ1
7 muscle alpha-actinin binding GO:0051371 9.26 PALLD MYPN MYOM3 LDB3
8 structural constituent of muscle GO:0008307 9.1 TCAP SORBS2 NEBL NEB MYOT MYOM3

Sources for Myopathy, Spheroid Body

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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