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, 26GTR, 30ICD10 via Orphanet, 36MedGen, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Myopathy, Spheroid Body:

Name: Myopathy, Spheroid Body 51 12
Spheroid Body Myopathy 11 47 24 53 69 26 49 13 67
 
Autosomal Dominant Spheroid Body Myopathy 47
Sbm 69

Characteristics:

Orphanet epidemiological data:

53
spheroid body myopathy:
Inheritance: Autosomal dominant; Age of onset: All ages

HPO:

63
myopathy, spheroid body:
Inheritance: autosomal dominant inheritance
Onset and clinical course: onset, slow progression, variable expressivity

Classifications:



External Ids:

OMIM51 182920
Disease Ontology11 DOID:0080091
Orphanet53 ORPHA268129
ICD10 via Orphanet30 G71.8
UMLS via Orphanet68 C1866785
MedGen36 C1866785

Summaries for Myopathy, Spheroid Body

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OMIM:51 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:69 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 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:

 63 (show all 9)
id Description HPO Frequency HPO Source Accession
1 nasal speech63 HP:0001611
2 dysphagia63 HP:0002015
3 broad-based gait63 HP:0002136
4 waddling gait63 HP:0002515
5 myopathy63 HP:0003198
6 skeletal muscle atrophy63 HP:0003202
7 elevated serum creatine phosphokinase63 HP:0003236
8 absent achilles reflex63 HP:0003438
9 neck flexor weakness63 HP:0003722

UMLS symptoms related to Myopathy, Spheroid Body:


waddling gait

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 Myopathy26 24 MYOT

Anatomical Context for Myopathy, Spheroid Body

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MalaCards organs/tissues related to Myopathy, Spheroid Body:

35
Skeletal muscle

Animal Models for Myopathy, Spheroid Body or affiliated genes

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MGI Mouse Phenotypes related to Myopathy, Spheroid Body:

40
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

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:

69
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:00432929.9CRYAB, DES
2muscle myosin complexGO:00058599.8MYH7, TTN
3sarcolemmaGO:00423839.3DES, FLNC, MYOT
4I bandGO:00316749.2CRYAB, 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
1ATP metabolic processGO:00460349.9MYH7, VCP
2intermediate filament organizationGO:00451099.9DES, DNAJB6
3striated muscle contractionGO:00069419.8MYH7, TTN
4cardiac muscle contractionGO:00600489.5MYH7, TTN
5sarcomere organizationGO:00452149.3LDB3, MYPN, TTN
6muscle filament slidingGO:00300499.2DES, MYH7, TTN
7protein foldingGO:00064579.2BAG3, CRYAB, DNAJB6
8regulation of cellular response to heatGO:19000349.0BAG3, CRYAB, DNAJB6
9muscle contractionGO:00069368.3CRYAB, DES, MYH7, MYOT, TTN

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of muscleGO:00083079.8MYOT, TTN
2actin bindingGO:00037799.6MYH7, MYOT, MYPN, PALLD
3muscle alpha-actinin bindingGO:00513719.2LDB3, MYPN, PALLD, TTN
4cytoskeletal protein bindingGO:00080929.0CRYAB, DES, FLNC, LDB3, MYPN
5identical protein bindingGO:00428028.2CRYAB, DES, TTN, VCP
6protein bindingGO:00055155.2BAG3, CRYAB, DES, DNAJB6, FLNC, LDB3

Sources for Myopathy, Spheroid Body

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet