MCID: MYP094
MIFTS: 30

Myopathy, Spheroid Body malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Aliases & Classifications for Myopathy, Spheroid Body

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 47Novoseek, 51Orphanet, 24GTR, 65UMLS, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Myopathy, Spheroid Body:

Name: Myopathy, Spheroid Body 49 11
Spheroid Body Myopathy 45 22 47 51 24 65 67
Autosomal Dominant Spheroid Body Myopathy 45
 
Epilepsy, Benign Neonatal, 2 65
Sbm 67


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM49 182920
Orphanet51 268129
ICD10 via Orphanet28 G71.8
UMLS via Orphanet66 C1866785
MedGen34 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 and myopathy, myofibrillar, 1, and has symptoms including autosomal dominant inheritance, nasal speech and dysphagia. An important gene associated with Myopathy, Spheroid Body is MYOT (Myotilin). Affiliated tissues include skeletal muscle.

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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Graphical network of 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 13)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 nasal speech HP:0001611
3 dysphagia HP:0002015
4 broad-based gait HP:0002136
5 waddling gait HP:0002515
6 myopathy HP:0003198
7 skeletal muscle atrophy HP:0003202
8 elevated serum creatine phosphokinase HP:0003236
9 absent achilles reflex HP:0003438
10 onset HP:0003674
11 slow progression HP:0003677
12 neck flexor weakness HP:0003722
13 variable expressivity HP:0003828

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 24 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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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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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:00423839.1DES, MYOT
2Z discGO:00300188.8DES, MYOT

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

idNameGO IDScoreTop Affiliating Genes
1muscle contractionGO:00069369.1DES, MYOT

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