SBM
MCID: MYP094
MIFTS: 38

Myopathy, Spheroid Body (SBM) malady

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

Aliases & Classifications for Myopathy, Spheroid Body

Aliases & Descriptions for Myopathy, Spheroid Body:

Name: Myopathy, Spheroid Body 54 13
Spheroid Body Myopathy 12 50 24 56 66 29 52 14 69
Autosomal Dominant Spheroid Body Myopathy 50
Sbm 66

Characteristics:

Orphanet epidemiological data:

56
spheroid body myopathy
Inheritance: Autosomal dominant; Age of onset: All ages;

HPO:

32
myopathy, spheroid body:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity onset slow progression


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 182920
Disease Ontology 12 DOID:0080091
Orphanet 56 ORPHA268129
ICD10 via Orphanet 34 G71.8
UMLS via Orphanet 70 C1866785
MedGen 40 C1866785

Summaries for Myopathy, Spheroid Body

OMIM : 54 Spheroid body myopathy is a form of myofibrillar myopathy (MFM). Myofibrillar myopathy refers to a genetically... (182920) more...

MalaCards based summary : Myopathy, Spheroid Body, also known as spheroid body myopathy, is related to myopathy, myofibrillar, 1 and chronic atrial and intestinal dysrhythmia, 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 and Cytoskeletal Signaling. Affiliated tissues include skeletal muscle, and related phenotypes are cardiovascular system and muscle

UniProtKB/Swiss-Prot : 66 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 35)
id Related Disease Score Top Affiliating Genes
1 myopathy, myofibrillar, 1 10.9
2 chronic atrial and intestinal dysrhythmia 10.2 DNAJB6 MYOT
3 dentinogenesis imperfecta, shields type iii 10.2 DNAJB6 MYOT
4 hypospadias 3, autosomal 10.2 DNAJB6 MYOT
5 isolated brachycephaly 10.2 FLNC MYPN
6 polyposis syndrome, hereditary mixed, 2 10.1 LDB3 MYOT
7 epilepsy, generalized, with febrile seizures plus, type 1 10.1 DES MYH7 MYOT
8 short-rib thoracic dysplasia 8 with or without polydactyly 10.1 DES DNAJB6 MYOT
9 inflammatory bowel disease 14 10.0 FLNC MYOT
10 myopathy, distal, with anterior tibial onset 10.0 MYOT TTN
11 pfeiffer rockelein syndrome 10.0 MYH7 TTN
12 myopathy 10.0
13 spinocerebellar ataxia 11 9.9 MYOT TTN
14 fibular hemimelia, bilateral 9.9 LDB3 TTN
15 fibular hemimelia, unilateral 9.9 LDB3 TTN
16 myopathy, early-onset, with fatal cardiomyopathy 9.9 LDB3 MYOT TTN
17 congenital absence of upper arm and forearm with hand present, bilateral 9.9 LDB3 TTN
18 lyme disease 9.8 DES MYH7 MYOT TTN
19 familial partial lipodystrophy 9.8 DES LDB3 TTN
20 kidney disease 9.8
21 polycystic kidney disease 9.8
22 autosomal recessive limb-girdle muscular dystrophy type 2f 9.8 DNAJB6 FLNC MYOT VCP
23 pollen allergy 9.8 LDB3 MYH7 TTN
24 muscular dystrophy, rigid spine, 1 9.8 MYH7 TTN
25 autoimmune thyroid disease 2 9.7 DNAJB6 LDB3 MYOT TTN
26 cardiomyopathy, dilated, 1i 9.7 CRYAB DES FLNC LDB3 MYOT
27 long qt syndrome 9 9.7 FLNC MYH7 MYPN TTN
28 myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related 9.7 CRYAB FLNC LDB3 MYH7 MYOT
29 ostertagiasis 9.7 CRYAB DES MYH7 MYPN TTN
30 primary cutaneous gamma/delta-positive t-cell lymphoma 9.3 BAG3 CRYAB DES LDB3 MYH7 MYPN
31 emery-dreifuss muscular dystrophy, dominant type 9.3 BAG3 CRYAB DES LDB3 MYH7 MYPN
32 nonsyndromic hearing loss and deafness, mitochondrial 9.1 BAG3 CRYAB DES DNAJB6 FLNC LDB3
33 cdkl5-related angelman-like syndrome 9.1 BAG3 CRYAB DES FLNC LDB3 MYH7
34 spindle cell sarcoma 9.0 CRYAB DES FLNC LDB3 MYH7 MYOT
35 celiac disease 2 8.5 BAG3 CRYAB DES DNAJB6 FLNC LDB3

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 by clinical synopsis from OMIM:

182920

Clinical features from OMIM:

182920

Human phenotypes related to Myopathy, Spheroid Body:

32 (show all 12)
id Description HPO Frequency HPO Source Accession
1 waddling gait 32 HP:0002515
2 dysphagia 32 HP:0002015
3 myopathy 32 HP:0003198
4 elevated serum creatine phosphokinase 32 HP:0003236
5 skeletal muscle atrophy 32 HP:0003202
6 nasal speech 32 HP:0001611
7 distal muscle weakness 32 HP:0002460
8 proximal amyotrophy 32 HP:0007126
9 proximal muscle weakness 32 HP:0003701
10 broad-based gait 32 HP:0002136
11 absent achilles reflex 32 HP:0003438
12 neck flexor weakness 32 HP:0003722

UMLS symptoms related to Myopathy, Spheroid Body:


waddling gait

MGI Mouse Phenotypes related to Myopathy, Spheroid Body:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.5 BAG3 DES FLNC LDB3 MYH7 TTN
2 muscle MP:0005369 9.23 BAG3 CRYAB DES FLNC LDB3 MYH7

Drugs & Therapeutics for Myopathy, Spheroid Body

Interventional clinical trials:


id Name Status NCT ID Phase
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:

id Genetic test Affiliating Genes
1 Spheroid Body Myopathy 29 24 MYOT

Anatomical Context for Myopathy, Spheroid Body

MalaCards organs/tissues related to Myopathy, Spheroid Body:

39
Skeletal Muscle

Publications for Myopathy, Spheroid Body

Variations for Myopathy, Spheroid Body

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

66
id Symbol AA change Variation ID SNP ID
1 MYOT p.Ser39Phe VAR_029532

ClinVar genetic disease variations for Myopathy, Spheroid Body:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MYOT NM_006790.2(MYOT): c.116C> T (p.Ser39Phe) single nucleotide variant 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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.83 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 9.46 MYH7 MYPN
5 M band GO:0031430 9.4 CRYAB TTN
6 muscle myosin complex GO:0005859 9.37 MYH7 TTN
7 Z disc GO:0030018 9.36 BAG3 CRYAB DES DNAJB6 FLNC LDB3
8 I band GO:0031674 9.33 CRYAB MYPN TTN
9 cardiac myofibril GO:0097512 9.26 CRYAB DES

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

id 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 muscle filament sliding GO:0030049 9.33 DES MYH7 TTN
9 sarcomere organization GO:0045214 9.13 LDB3 MYPN 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:

id Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.93 BAG3 CRYAB DES DNAJB6 FLNC LDB3
2 actin filament binding GO:0051015 9.43 FLNC 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

Sources for Myopathy, Spheroid Body

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