MCID: MYP094
MIFTS: 38

Myopathy, Spheroid Body malady

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

Aliases & Classifications for Myopathy, Spheroid Body

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Sources:
50OMIM, 12diseasecard, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 48Novoseek, 66UMLS, 29ICD10 via Orphanet, 67UMLS via Orphanet, 35MedGen, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Myopathy, Spheroid Body:

Name: Myopathy, Spheroid Body 50 12
Spheroid Body Myopathy 11 46 23 13 52 68 25 48 66
 
Autosomal Dominant Spheroid Body Myopathy 46
Sbm 68

Characteristics:

Orphanet epidemiological data:

52
spheroid body myopathy:
Inheritance: Autosomal dominant; Age of onset: All ages

HPO:

62
myopathy, spheroid body:
Inheritance: autosomal dominant inheritance
Onset and clinical course: onset, slow progression, variable expressivity


Classifications:



External Ids:

OMIM50 182920
Disease Ontology11 DOID:0080091
Orphanet52 ORPHA268129
ICD10 via Orphanet29 G71.8
UMLS via Orphanet67 C1866785
MedGen35 C1866785

Summaries for Myopathy, Spheroid Body

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OMIM:50 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 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 Cytoskeletal Signaling. Affiliated tissues include skeletal muscle, and related mouse phenotypes are behavior/neurological and muscle.

UniProtKB/Swiss-Prot:68 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 28)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy, myofibrillar, 129.6CRYAB, DES, LDB3, MYOT
2tubular renal disease-cardiomyopathy syndrome10.3FLNC, MYPN
3cardiomyopathy, dilated, 1c, with or without lvnc10.2LDB3, MYOT
4myopathy10.1
5myopathy, distal, 410.1FLNC, MYOT
6second-degree atrioventricular block10.1CRYAB, DES
7kidney disease10.0
8polycystic kidney disease10.0
9muscular dystrophy, rigid spine, 19.9MYH7, TTN
10symmastia9.8MYH7, TTN
11meige syndrome9.8CRYAB, DES, MYH7, MYPN
12frontotemporal dementia, right temporal atrophy variant9.8LDB3, TTN
13occupational dermatitis9.8DES, TTN
14fixed pigmented erythema9.7LDB3, TTN
15epilepsy, generalized, with febrile seizures plus, type 19.7DES, FLNC, MYH7, MYOT
16ketamine-induced biliary dilatation9.7LDB3, TTN
17cardiomyopathy, familial hypertrophic9.6MYH7, MYPN, TTN
18ulceroglandular tularemia9.5DES, MYH7, TTN
19autoimmune disease of skin and connective tissue9.4MYH7, TTN
20myopathy, spheroid body9.3DNAJB6, LDB3, MYOT, TTN
21cornelia de lange syndrome9.2LDB3, MYH7, MYOT, TTN
22myostatin-related muscle hypertrophy9.2BAG3, DES, FLNC, LDB3, MYOT
23ectodermal dysplasia9.2DES, LDB3, MYH7, TTN
24cataract 16, multiple types9.2CRYAB, FLNC, LDB3, MYH7, MYOT
25extraosseous ewing's sarcoma8.5CRYAB, DES, MYH7, MYOT, TTN, VCP
26longitudinal vaginal septum8.1BAG3, CRYAB, DES, LDB3, MYH7, MYPN
27cardiovascular disease risk factor )8.1BAG3, CRYAB, DES, LDB3, MYH7, MYPN
28autoimmune thyroid disease 26.1BAG3, CRYAB, DES, DNAJB6, FLNC, LDB3

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

HPO human phenotypes related to Myopathy, Spheroid Body:

(show all 9)
id Description Frequency HPO Source Accession
1 nasal speech HP:0001611
2 dysphagia HP:0002015
3 broad-based gait HP:0002136
4 waddling gait HP:0002515
5 myopathy HP:0003198
6 skeletal muscle atrophy HP:0003202
7 elevated serum creatine phosphokinase HP:0003236
8 absent achilles reflex HP:0003438
9 neck flexor weakness 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 Myopathy25 23 MYOT

Anatomical Context for Myopathy, Spheroid Body

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MalaCards organs/tissues related to Myopathy, Spheroid Body:

34
Skeletal muscle

Animal Models for Myopathy, Spheroid Body or affiliated genes

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MGI Mouse Phenotypes related to Myopathy, Spheroid Body:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053866.8BAG3, CRYAB, DES, FLNC, LDB3, TTN
2MP:00053696.7BAG3, CRYAB, DES, FLNC, LDB3, MYH7
3MP:00053856.6BAG3, DES, FLNC, LDB3, MYH7, TTN

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:

68
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)single nucleotide variantPathogenicrs121908461GRCh37Chr 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
3I bandGO:00316749.2CRYAB, MYPN, TTN
4sarcolemmaGO:00423839.1DES, FLNC, MYOT
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:004510910.1DES, DNAJB6
2ATP metabolic processGO:00460349.9MYH7, VCP
3striated muscle contractionGO:00069419.8MYH7, TTN
4cardiac muscle contractionGO:00600489.5MYH7, TTN
5regulation of cellular response to heatGO:19000349.3BAG3, CRYAB, DNAJB6
6protein foldingGO:00064579.3BAG3, CRYAB, DNAJB6
7sarcomere organizationGO:00452149.3LDB3, MYPN, TTN
8muscle filament slidingGO:00300499.2DES, MYH7, TTN
9muscle contractionGO:00069368.0CRYAB, 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:00083079.9MYOT, 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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet