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

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 37MedGen, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Myopathy, Spheroid Body:

Name: Myopathy, Spheroid Body 52 12
Spheroid Body Myopathy 11 48 24 54 70 27 50 13 68
 
Autosomal Dominant Spheroid Body Myopathy 48
Sbm 70

Characteristics:

Orphanet epidemiological data:

54
spheroid body myopathy:
Inheritance: Autosomal dominant; Age of onset: All ages

HPO:

64
myopathy, spheroid body:
Inheritance: autosomal dominant inheritance
Onset and clinical course: onset, slow progression, variable expressivity

Classifications:



External Ids:

OMIM52 182920
Disease Ontology11 DOID:0080091
Orphanet54 ORPHA268129
ICD10 via Orphanet31 G71.8
UMLS via Orphanet69 C1866785
MedGen37 C1866785

Summaries for Myopathy, Spheroid Body

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OMIM:52 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, waddling gait and nasal speech. An important gene associated with Myopathy, Spheroid Body is MYOT (Myotilin), and among its related pathways are Cellular response to heat stress and Dilated cardiomyopathy. Affiliated tissues include skeletal muscle, and related mouse phenotypes are cardiovascular system and muscle.

UniProtKB/Swiss-Prot:70 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

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

(show all 35)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy, myofibrillar, 110.9
2chronic atrial and intestinal dysrhythmia10.2DNAJB6, MYOT
3dentinogenesis imperfecta, shields type iii10.2DNAJB6, MYOT
4hypospadias 3, autosomal10.2DNAJB6, MYOT
5isolated brachycephaly10.2FLNC, MYPN
6polyposis syndrome, hereditary mixed, 210.1LDB3, MYOT
7epilepsy, generalized, with febrile seizures plus, type 110.1DES, MYH7, MYOT
8short-rib thoracic dysplasia 8 with or without polydactyly10.1DES, DNAJB6, MYOT
9inflammatory bowel disease 1410.0FLNC, MYOT
10myopathy, distal, with anterior tibial onset10.0MYOT, TTN
11pfeiffer rockelein syndrome10.0MYH7, TTN
12myopathy10.0
13spinocerebellar ataxia 119.9MYOT, TTN
14fibular hemimelia, bilateral9.9LDB3, TTN
15fibular hemimelia, unilateral9.9LDB3, TTN
16myopathy, early-onset, with fatal cardiomyopathy9.9LDB3, MYOT, TTN
17congenital absence of upper arm and forearm with hand present, bilateral9.9LDB3, TTN
18lyme disease9.8DES, MYH7, MYOT, TTN
19familial partial lipodystrophy9.8DES, LDB3, TTN
20kidney disease9.8
21polycystic kidney disease9.8
22autosomal recessive limb-girdle muscular dystrophy type 2f9.8DNAJB6, FLNC, MYOT, VCP
23muscular dystrophy, rigid spine, 19.8MYH7, TTN
24pollen allergy9.8LDB3, MYH7, TTN
25autoimmune thyroid disease 29.7DNAJB6, LDB3, MYOT, TTN
26cardiomyopathy, dilated, 1i9.7CRYAB, DES, FLNC, LDB3, MYOT
27long qt syndrome 99.7FLNC, MYH7, MYPN, TTN
28myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related9.7CRYAB, FLNC, LDB3, MYH7, MYOT
29ostertagiasis9.7CRYAB, DES, MYH7, MYPN, TTN
30primary cutaneous gamma/delta-positive t-cell lymphoma9.3BAG3, CRYAB, DES, LDB3, MYH7, MYPN
31emery-dreifuss muscular dystrophy, dominant type9.3BAG3, CRYAB, DES, LDB3, MYH7, MYPN
32nonsyndromic hearing loss and deafness, mitochondrial9.1BAG3, CRYAB, DES, DNAJB6, FLNC, LDB3
33cdkl5-related angelman-like syndrome9.1BAG3, CRYAB, DES, FLNC, LDB3, MYH7
34spindle cell sarcoma9.0CRYAB, DES, FLNC, LDB3, MYH7, MYOT
35celiac disease 28.5BAG3, 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

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Symptoms by clinical synopsis from OMIM:

182920

Clinical features from OMIM:

182920

Human phenotypes related to Myopathy, Spheroid Body:

 64 (show all 12)
id Description HPO Frequency HPO Source Accession
1 nasal speech64 HP:0001611
2 dysphagia64 HP:0002015
3 broad-based gait64 HP:0002136
4 distal muscle weakness64 HP:0002460
5 waddling gait64 HP:0002515
6 myopathy64 HP:0003198
7 skeletal muscle atrophy64 HP:0003202
8 elevated serum creatine phosphokinase64 HP:0003236
9 absent achilles reflex64 HP:0003438
10 proximal muscle weakness64 HP:0003701
11 neck flexor weakness64 HP:0003722
12 proximal amyotrophy64 HP:0007126

UMLS symptoms related to Myopathy, Spheroid Body:


waddling gait

MGI Mouse Phenotypes related to Myopathy, Spheroid Body according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053857.6BAG3, DES, FLNC, LDB3, MYH7, TTN
2MP:00053696.5BAG3, CRYAB, DES, FLNC, LDB3, MYH7

Drugs & Therapeutics for Myopathy, Spheroid Body

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402

Search NIH Clinical Center for Myopathy, Spheroid Body

Genetic Tests for Myopathy, Spheroid Body

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Genetic tests related to Myopathy, Spheroid Body:

id Genetic test Affiliating Genes
1 Spheroid Body Myopathy27 24 MYOT

Anatomical Context for Myopathy, Spheroid Body

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MalaCards organs/tissues related to Myopathy, Spheroid Body:

36
Skeletal muscle

Publications for Myopathy, Spheroid Body

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Variations for Myopathy, Spheroid Body

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

70
id Symbol AA change Variation ID SNP ID
1MYOTp.Ser39PheVAR_029532

Clinvar genetic disease variations for Myopathy, Spheroid Body:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MYOTNM_ 006790.2(MYOT): c.116C> T (p.Ser39Phe)SNVPathogenicrs121908461GRCh37Chr 5, 137206456: 137206456

Expression for genes affiliated with Myopathy, Spheroid Body

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

Pathways for genes affiliated with Myopathy, Spheroid Body

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1BAG3, DNAJB6, VCP
2
Show member pathways
9.0DES, MYH7, TTN
38.7DES, FLNC, PALLD, VCP

GO Terms for genes affiliated with Myopathy, Spheroid Body

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

idNameGO IDScoreTop Affiliating Genes
1cardiac myofibrilGO:009751210.6CRYAB, DES
2sarcomereGO:003001710.4MYH7, MYPN
3sarcolemmaGO:004238310.0DES, FLNC, MYOT
4muscle myosin complexGO:00058599.9MYH7, TTN
5M bandGO:00314309.9CRYAB, TTN
6I bandGO:00316749.6CRYAB, MYPN, TTN
7cytoskeletonGO:00058569.1DES, FLNC, LDB3, MYOT, PALLD
8cytoplasmGO:00057376.0BAG3, CRYAB, DES, DNAJB6, FLNC, LDB3
9Z discGO:00300185.9BAG3, CRYAB, DES, DNAJB6, FLNC, LDB3

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1intermediate filament organizationGO:004510910.5DES, DNAJB6
2ATP metabolic processGO:004603410.2MYH7, VCP
3cardiac muscle fiber developmentGO:004873910.0MYPN, TTN
4cardiac muscle contractionGO:006004810.0MYH7, TTN
5regulation of cellular response to heatGO:19000349.7BAG3, CRYAB, DNAJB6
6muscle filament slidingGO:00300499.7DES, MYH7, TTN
7striated muscle contractionGO:00069419.3MYH7, TTN
8sarcomere organizationGO:00452149.2LDB3, MYPN, TTN
9protein foldingGO:00064579.2BAG3, CRYAB, DNAJB6, VCP
10muscle contractionGO:00069369.0CRYAB, DES, MYH7, MYOT, TTN

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

idNameGO IDScoreTop Affiliating Genes
1actin filament bindingGO:00510159.7FLNC, MYPN, TTN
2structural constituent of muscleGO:00083079.4MYOT, TTN
3muscle alpha-actinin bindingGO:00513719.3LDB3, MYPN, PALLD, TTN
4cytoskeletal protein bindingGO:00080929.3CRYAB, DES, FLNC, LDB3, MYPN
5protein bindingGO:00055155.7BAG3, CRYAB, DES, DNAJB6, FLNC, LDB3

Sources for Myopathy, Spheroid Body

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet