MCID: MYP094
MIFTS: 21

Myopathy, Spheroid Body malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Aliases & Classifications for Myopathy, Spheroid Body

About this section
Sources:
46OMIM, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 44Novoseek, 48Orphanet, 22GTR, 61UMLS, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Aliases & Descriptions for Myopathy, Spheroid Body:

Name: Myopathy, Spheroid Body 46 9
Spheroid Body Myopathy 42 20 44 48 22 61
 
Autosomal Dominant Spheroid Body Myopathy 42
Epilepsy, Benign Neonatal, 2 61


Classifications:



Characteristics (Orphanet epidemiological data):

48
spheroid body myopathy:
Inheritance: Autosomal dominant; Age of onset: All ages


External Ids:

OMIM46 182920
Orphanet48 268129
ICD10 via Orphanet26 G71.8
UMLS via Orphanet62 C1866785

Summaries for Myopathy, Spheroid Body

About this section
OMIM:46 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).

Related Diseases for Myopathy, Spheroid Body

About this section

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

About this section

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

About this section

Drug clinical trials:

Search ClinicalTrials for Myopathy, Spheroid Body

Search NIH Clinical Center for Myopathy, Spheroid Body

Genetic Tests for Myopathy, Spheroid Body

About this section

Genetic tests related to Myopathy, Spheroid Body:

id Genetic test Affiliating Genes
1 Spheroid Body Myopathy20 22 MYOT

Anatomical Context for Myopathy, Spheroid Body

About this section

Animal Models for Myopathy, Spheroid Body or affiliated genes

About this section

Publications for Myopathy, Spheroid Body

About this section

Variations for Myopathy, Spheroid Body

About this section

UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Spheroid Body:

63
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

About this section
Search GEO for disease gene expression data for Myopathy, Spheroid Body.

Pathways for genes affiliated with Myopathy, Spheroid Body

About this section

Compounds for genes affiliated with Myopathy, Spheroid Body

About this section

GO Terms for genes affiliated with Myopathy, Spheroid Body

About this section

Sources for Myopathy, Spheroid Body

About this section
2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet