MCID: MYP094
MIFTS: 40

Myopathy, Spheroid Body

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

Aliases & Classifications for Myopathy, Spheroid Body

MalaCards integrated aliases for Myopathy, Spheroid Body:

Name: Myopathy, Spheroid Body 53 13
Spheroid Body Myopathy 12 49 55 71 36 28 51 14 69
Autosomal Dominant Spheroid Body Myopathy 49
Sbm 71

Characteristics:

Orphanet epidemiological data:

55
spheroid body myopathy
Inheritance: Autosomal dominant; Age of onset: All ages;

OMIM:

53
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:
Onset and clinical course variable expressivity slow progression onset
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

OMIM 53 182920
Disease Ontology 12 DOID:0080091
Orphanet 55 ORPHA268129
UMLS via Orphanet 70 C1866785
ICD10 via Orphanet 33 G71.8
MedGen 39 C1866785
KEGG 36 H01291
UMLS 69 C1866785

Summaries for Myopathy, Spheroid Body

OMIM : 53 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 myopathy and muscular dystrophy, limb-girdle, type 1h, and has symptoms including waddling gait, dysphagia and myopathy. An important gene associated with Myopathy, Spheroid Body is MYOT (Myotilin), and among its related pathways/superpathways are Dilated cardiomyopathy (DCM) and Cytoskeletal Signaling. Affiliated tissues include skeletal muscle, and related phenotypes are cardiovascular system and muscle

UniProtKB/Swiss-Prot : 71 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 all 39)
# Related Disease Score Top Affiliating Genes
1 myopathy 26.0 BAG3 CRYAB DES DNAJB6 FLNC LDB3
2 muscular dystrophy, limb-girdle, type 1h 10.4 DNAJB6 MYOT
3 autosomal dominant limb-girdle muscular dystrophy type 1g 10.4 DNAJB6 MYOT
4 autosomal dominant limb-girdle muscular dystrophy type 1c 10.3 DNAJB6 MYOT
5 muscular dystrophy, limb-girdle, type 1f 10.3 DNAJB6 MYOT
6 central core disease of muscle 10.3 DES MYOT
7 familial isolated restrictive cardiomyopathy 10.3 FLNC MYPN
8 muscular dystrophy, limb-girdle, type 1e 10.2 DES DNAJB6 MYOT
9 myopathy, myofibrillar, 4 10.2 LDB3 MYOT
10 atrial standstill 1 10.2 DES MYH7 MYOT
11 cardiomyopathy, dilated, 1e 10.2 DES MYH7
12 short qt syndrome 10.2 DES MYPN
13 muscular dystrophy, limb-girdle, type 1a 10.1 FLNC MYOT
14 cardioneuromyopathy with hyaline masses and nemaline rods 10.0 DES TTN
15 kidney disease 9.9
16 polycystic kidney disease 9.9
17 muscular dystrophy, limb-girdle, type 2b 9.9 MYOT TTN
18 peripartum cardiomyopathy 9.8 MYH7 TTN
19 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 9.8 LDB3 TTN
20 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 9.8 LDB3 TTN
21 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 9.8 LDB3 TTN
22 muscular dystrophy, limb-girdle, type 2a 9.8 DNAJB6 MYOT TTN
23 distal muscular dystrophy 9.8 MYH7 MYOT TTN
24 myopathy, myofibrillar, 1 9.8 CRYAB DES LDB3 MYOT
25 limb-girdle muscular dystrophy 9.7 DNAJB6 MYOT TTN
26 muscular dystrophy, limb-girdle, type 2j 9.7 LDB3 MYOT TTN
27 rigid spine muscular dystrophy 1 9.6 MYH7 TTN
28 autosomal dominant limb-girdle muscular dystrophy 9.6 DNAJB6 FLNC MYOT VCP
29 muscular dystrophy 9.6 DES DNAJB6 MYOT TTN
30 hypertrophic cardiomyopathy 9.6 DES MYH7 MYPN TTN
31 arrhythmogenic right ventricular cardiomyopathy 9.6 DES LDB3 TTN
32 left ventricular noncompaction 9.5 LDB3 MYH7 TTN
33 intrinsic cardiomyopathy 9.5 MYH7 TTN
34 myopathy, myofibrillar, 2 9.3 CRYAB FLNC LDB3 MYH7 MYOT
35 myopathy, myofibrillar, 3 9.1 DNAJB6 FLNC LDB3 MYOT TTN
36 restrictive cardiomyopathy 8.9 CRYAB DES FLNC MYH7 MYPN TTN
37 familial isolated dilated cardiomyopathy 8.6 BAG3 CRYAB DES LDB3 MYH7 MYPN
38 dilated cardiomyopathy 8.5 BAG3 CRYAB DES LDB3 MYH7 MYPN
39 myofibrillar myopathy 8.5 BAG3 CRYAB DES FLNC LDB3 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

Symptoms via clinical synopsis from OMIM:

53
Muscle Soft Tissue:
waddling gait
broad-based gait
muscle weakness, proximal
muscle weakness, distal
muscle atrophy, proximal
more
Voice:
nasal speech

Head And Neck Neck:
neck flexor muscle weakness

Abdomen Gastroin testinal:
dysphagia

Laboratory Abnormalities:
increased serum creatine kinase

Respiratory:
respiratory difficulties due to muscle weakness in some patients


Clinical features from OMIM:

182920

Human phenotypes related to Myopathy, Spheroid Body:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 waddling gait 31 HP:0002515
2 dysphagia 31 HP:0002015
3 myopathy 31 HP:0003198
4 elevated serum creatine phosphokinase 31 HP:0003236
5 skeletal muscle atrophy 31 HP:0003202
6 nasal speech 31 HP:0001611
7 distal muscle weakness 31 HP:0002460
8 proximal amyotrophy 31 HP:0007126
9 proximal muscle weakness 31 HP:0003701
10 neck flexor weakness 31 HP:0003722
11 broad-based gait 31 HP:0002136
12 absent achilles reflex 31 HP:0003438

UMLS symptoms related to Myopathy, Spheroid Body:


waddling gait

MGI Mouse Phenotypes related to Myopathy, Spheroid Body:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.56 BAG3 DES FLNC LDB3 MYH7 MYPN
2 muscle MP:0005369 9.28 BAG3 CRYAB DES FLNC LDB3 MYH7

Drugs & Therapeutics for Myopathy, Spheroid Body

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

Search 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 28 MYOT

Anatomical Context for Myopathy, Spheroid Body

MalaCards organs/tissues related to Myopathy, Spheroid Body:

38
Skeletal Muscle

Publications for Myopathy, Spheroid Body

Articles related to Myopathy, Spheroid Body:

# Title Authors Year
1
A mutation in myotilin causes spheroid body myopathy. ( 16380616 )
2005
2
Spheroid body myopathy revisited. ( 9270668 )
1997

Variations for Myopathy, Spheroid Body

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

71
# Symbol AA change Variation ID SNP ID
1 MYOT p.Ser39Phe VAR_029532

ClinVar genetic disease variations for Myopathy, Spheroid Body:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MYOT NM_006790.2(MYOT): c.116C> T (p.Ser39Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121908461 GRCh37 Chromosome 5, 137206456: 137206456

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
Show member pathways
11.57 DES MYH7 TTN
2 11.41 DES FLNC PALLD VCP
3
Show member pathways
11.36 BAG3 DNAJB6 VCP

GO Terms for Myopathy, Spheroid Body

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

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.85 DES FLNC LDB3 MYOT PALLD
2 cytoplasm GO:0005737 9.73 BAG3 CRYAB DES DNAJB6 FLNC LDB3
3 sarcolemma GO:0042383 9.5 DES FLNC MYOT
4 sarcomere GO:0030017 9.48 MYH7 MYPN
5 M band GO:0031430 9.43 CRYAB TTN
6 muscle myosin complex GO:0005859 9.4 MYH7 TTN
7 contractile fiber GO:0043292 9.37 CRYAB DES
8 Z disc GO:0030018 9.36 BAG3 CRYAB DES DNAJB6 FLNC LDB3
9 I band GO:0031674 9.33 CRYAB MYPN TTN
10 cardiac myofibril GO:0097512 9.26 CRYAB DES

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

# Name GO ID Score Top Affiliating Genes
1 protein folding GO:0006457 9.56 BAG3 CRYAB DNAJB6 VCP
2 regulation of cellular response to heat GO:1900034 9.5 BAG3 CRYAB DNAJB6
3 cardiac muscle contraction GO:0060048 9.48 MYH7 TTN
4 ATP metabolic process GO:0046034 9.46 MYH7 VCP
5 striated muscle contraction GO:0006941 9.43 MYH7 TTN
6 intermediate filament organization GO:0045109 9.4 DES DNAJB6
7 cardiac muscle fiber development GO:0048739 9.37 MYPN TTN
8 sarcomere organization GO:0045214 9.33 LDB3 MYPN TTN
9 muscle filament sliding GO:0030049 9.13 DES MYH7 TTN
10 muscle contraction GO:0006936 9.02 CRYAB DES MYH7 MYOT TTN

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

# Name GO ID Score Top Affiliating Genes
1 protein complex binding GO:0032403 9.54 BAG3 CRYAB VCP
2 actin filament binding GO:0051015 9.46 FLNC MYH7 MYPN TTN
3 structural constituent of muscle GO:0008307 9.32 MYOT TTN
4 muscle alpha-actinin binding GO:0051371 9.26 LDB3 MYPN PALLD TTN
5 cytoskeletal protein binding GO:0008092 9.02 CRYAB DES FLNC LDB3 MYPN
6 protein binding GO:0005515 10.03 BAG3 CRYAB DES DNAJB6 FLNC LDB3

Sources for Myopathy, Spheroid Body

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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