MCID: MYP094
MIFTS: 37

Myopathy, Spheroid Body 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 tubular renal disease-cardiomyopathy syndrome, and has symptoms including nasal speech, dysphagia and broad-based gait. An important gene associated with Myopathy, Spheroid Body is MYOT (Myotilin), and among its related pathways are Cellular response to heat stress and Cytoskeletal Signaling. Affiliated tissues include skeletal muscle, and related mouse phenotypes are cardiovascular system and behavior/neurological.

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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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 9)
id Description HPO Frequency HPO Source Accession
1 nasal speech64 HP:0001611
2 dysphagia64 HP:0002015
3 broad-based gait64 HP:0002136
4 waddling gait64 HP:0002515
5 myopathy64 HP:0003198
6 skeletal muscle atrophy64 HP:0003202
7 elevated serum creatine phosphokinase64 HP:0003236
8 absent achilles reflex64 HP:0003438
9 neck flexor weakness64 HP:0003722

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:00053867.6BAG3, CRYAB, DES, FLNC, LDB3, TTN
3MP: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
29.0DES, FLNC, 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
1contractile fiberGO:004329210.4CRYAB, DES
2sarcolemmaGO:00423839.9DES, FLNC, MYOT
3muscle myosin complexGO:00058599.9MYH7, TTN
4I bandGO:00316749.5CRYAB, MYPN, TTN
5Z discGO:00300185.9BAG3, CRYAB, DES, DNAJB6, FLNC, LDB3

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1intermediate filament organizationGO:004510910.5DES, DNAJB6
2ATP metabolic processGO:004603410.2MYH7, VCP
3cardiac muscle contractionGO:006004810.0MYH7, TTN
4protein foldingGO:00064579.8BAG3, CRYAB, DNAJB6
5regulation of cellular response to heatGO:19000349.7BAG3, CRYAB, DNAJB6
6muscle filament slidingGO:00300499.6DES, MYH7, TTN
7striated muscle contractionGO:00069419.3MYH7, TTN
8sarcomere organizationGO:00452149.1LDB3, MYPN, TTN
9muscle 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 bindingGO:000377910.0MYH7, MYOT, MYPN, PALLD
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
5identical protein bindingGO:00428029.2CRYAB, DES, TTN, VCP
6protein 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