MCID: MYP094
MIFTS: 21

Myopathy, Spheroid Body malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Summaries for Myopathy, Spheroid Body

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OMIM:45 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).

Aliases & Classifications for Myopathy, Spheroid Body

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Myopathy, Spheroid Body, Aliases & Descriptions:

Name: Myopathy, Spheroid Body 45 10
Spheroid Body Myopathy 41 20 43 47 22 60
 
Autosomal Dominant Spheroid Body Myopathy 41
Epilepsy, Benign Neonatal, 2 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

47
spheroid body myopathy:
Inheritance: Autosomal dominant; Age of onset: All ages


External Ids:

OMIM45 182920
Orphanet47 268129
ICD10 via Orphanet26 G71.8
UMLS via Orphanet61 C1866785

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:

idRelated DiseaseScoreTop Affiliating Genes
1myopathy10.4
2myopathy, myofibrillar, 110.2

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 amyotrophy 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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Drug clinical trials:

Search ClinicalTrials for Myopathy, Spheroid Body

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 Myopathy20 22 MYOT

Anatomical Context for Myopathy, Spheroid Body

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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:

62
id Symbol AA change Variation ID SNP ID
1MYOTp.Ser39PheVAR_029532

Clinvar genetic disease variations for Myopathy, Spheroid Body:

6
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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Compounds for genes affiliated with Myopathy, Spheroid Body

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GO Terms for genes affiliated with Myopathy, Spheroid Body

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Products for genes affiliated with Myopathy, Spheroid Body

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Myopathy, Spheroid Body

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet