MCID: MYP094
MIFTS: 36

Myopathy, Spheroid Body malady

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

Aliases & Classifications for Myopathy, Spheroid Body

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 47Novoseek, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Myopathy, Spheroid Body:

Name: Myopathy, Spheroid Body 49 11
Spheroid Body Myopathy 10 45 22 47 12 51 67 24 65
 
Autosomal Dominant Spheroid Body Myopathy 45
Sbm 67

Characteristics:

Orphanet epidemiological data:

51
spheroid body myopathy:
Inheritance: Autosomal dominant; Age of onset: All ages

HPO:

61
myopathy, spheroid body:
Onset and clinical course: variable expressivity, slow progression, onset
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 182920
Disease Ontology10 DOID:0080091
Orphanet51 268129
ICD10 via Orphanet28 G71.8
UMLS via Orphanet66 C1866785
MedGen34 C1866785
UMLS65 C1866785

Summaries for Myopathy, Spheroid Body

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OMIM:49 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 schizophrenia 16, and has symptoms including neck flexor weakness, absent achilles reflex and elevated serum creatine phosphokinase. An important gene associated with Myopathy, Spheroid Body is MYOT (Myotilin), and among its related pathways is Cellular response to heat stress. Affiliated tissues include skeletal muscle, and related mouse phenotypes are behavior/neurological and cardiovascular system.

UniProtKB/Swiss-Prot:67 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, 130.4CRYAB, DES, LDB3, MYOT
2schizophrenia 1610.3DES, DNAJB6
3pernicious anemia10.2
4cardiomyopathy, dilated, 1c, with or without lvnc10.1LDB3, MYOT
5x-linked cleft palate and ankyloglossia10.1MYH7, TTN
6cardiomyopathy, hypertrophic, 2510.1MYOT, TTN
7myopathy, distal, 410.1DES, FLNC, MYOT
8muscular dystrophy, limb-girdle, type 2b10.0MYOT, TTN
9familial isolated arrhythmogenic ventricular dysplasia, left dominant form10.0LDB3, TTN
10dermatosis papulosa nigra10.0DES, MYOT, TTN
11frontotemporal dementia, right temporal atrophy variant10.0LDB3, TTN
12mitf-related melanoma and renal cell carcinoma predisposition syndrome9.9LDB3, TTN
13cartilage disease9.9MYOT, TTN
14specific developmental disorder9.9MYH7, TTN
15myopathy, myofibrillar, 39.8FLNC, MYOT, TTN
16minicore myopathy with external ophthalmoplegia9.8DES, FLNC, MYH7, MYOT
17limb-girdle muscular dystrophy9.8DES, MYH7, MYOT, TTN
18extrinsic cardiomyopathy9.7DES, MYH7, MYPN, TTN
19conjunctival concretion9.7DES, MYH7, TTN
20alternating esotropia9.6DNAJB6, MYOT, TTN
21drug-induced hepatitis9.6DES, LDB3, MYH7, TTN
22myopathy, spheroid body9.3FLNC, LDB3, MYH7, MYOT, TTN
23cataract 16, multiple types9.3CRYAB, DES, FLNC, LDB3, MYH7, MYOT
24transverse vaginal septum8.9BAG3, CRYAB, DES, LDB3, MYH7, MYPN
25cardiomyopathy with or without skeletal myopathy8.7BAG3, CRYAB, DES, LDB3, MYH7, MYOT
26myopathy with deficiency of iscu8.6BAG3, CRYAB, DES, DNAJB6, FLNC, LDB3
27histiocytoma8.4CRYAB, DES, FLNC, LDB3, MYH7, MYOT
28autoimmune thyroid disease 27.5BAG3, CRYAB, DES, DNAJB6, FLNC, LDB3

Graphical network of the top 20 diseases related to Myopathy, Spheroid Body:



Diseases related to myopathy, spheroid body

Symptoms 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 neck flexor weakness HP:0003722
2 absent achilles reflex HP:0003438
3 elevated serum creatine phosphokinase HP:0003236
4 skeletal muscle atrophy HP:0003202
5 myopathy HP:0003198
6 waddling gait HP:0002515
7 broad-based gait HP:0002136
8 dysphagia HP:0002015
9 nasal speech HP:0001611

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 Myopathy22 MYOT

Anatomical Context for Myopathy, Spheroid Body

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MalaCards organs/tissues related to Myopathy, Spheroid Body:

33
Skeletal muscle

Animal Models for Myopathy, Spheroid Body or affiliated genes

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MGI Mouse Phenotypes related to Myopathy, Spheroid Body:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053866.9BAG3, CRYAB, DES, FLNC, LDB3, TTN
2MP:00053856.9BAG3, DES, FLNC, LDB3, MYH7, TTN
3MP:00053696.2BAG3, 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:

67
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
8.9BAG3, DNAJB6, 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
1sarcolemmaGO:00423839.8DES, MYOT
2cytoskeletonGO:00058569.1DES, FLNC, LDB3

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

idNameGO IDScoreTop Affiliating Genes
1muscle filament slidingGO:00300499.6MYH7, TTN
2muscle contractionGO:00069369.3CRYAB, TTN
3cellular response to heatGO:00346058.9BAG3, DNAJB6, VCP

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

idNameGO IDScoreTop Affiliating Genes
1cytoskeletal protein bindingGO:00080929.7LDB3, MYPN

Sources for Myopathy, Spheroid Body

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet