MCID: MYP078
MIFTS: 21

Myopathy, Myofibrillar, 3 malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Aliases & Classifications for Myopathy, Myofibrillar, 3

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Myopathy, Myofibrillar, 3, Aliases & Descriptions:

Name: Myopathy, Myofibrillar, 3 45
 
Myotilinopathy 10 20 22 60


Classifications:

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


External Ids:

OMIM45 609200

Summaries for Myopathy, Myofibrillar, 3

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OMIM:45 Myotilinopathy is a form of myofibrillar myopathy. Myofibrillar myopathy refers to a genetically heterogeneous group of... (609200) more...

MalaCards based summary: Myopathy, Myofibrillar, 3, also known as myotilinopathy, is related to distal myotilinopathy and myofibrillar myopathy, and has symptoms including autosomal dominant inheritance, polyneuropathy and areflexia. An important gene associated with Myopathy, Myofibrillar, 3 is MYOT (myotilin).

Related Diseases for Myopathy, Myofibrillar, 3

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Diseases in the Myofibrillar Myopathy family:

Myopathy, Myofibrillar, 1 myopathy, myofibrillar, 3
Myopathy, Myofibrillar, 5 Myopathy, Myofibrillar, 4
Myopathy, Myofibrillar, 6 Myopathy, Myofibrillar, 2
Dnajb6-Related Myofibrillar Myopathy Fhl1-Related Myofibrillar Myopathy

Diseases related to Myopathy, Myofibrillar, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1distal myotilinopathy10.3
2myofibrillar myopathy10.2
3myopathy, myofibrillar, 110.0
4neuronitis10.0
5myopathy10.0

Graphical network of diseases related to Myopathy, Myofibrillar, 3:



Diseases related to myopathy, myofibrillar, 3

Symptoms for Myopathy, Myofibrillar, 3

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Symptoms by clinical synopsis from OMIM:

609200

Clinical features from OMIM:

609200

HPO human phenotypes related to Myopathy, Myofibrillar, 3:

(show all 16)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 polyneuropathy HP:0001271
3 areflexia HP:0001284
4 cardiomyopathy HP:0001638
5 achilles tendon contracture HP:0001771
6 hyporeflexia of lower limbs HP:0002600
7 elevated serum creatine phosphokinase HP:0003236
8 myalgia HP:0003326
9 muscle stiffness HP:0003552
10 adult onset HP:0003581
11 slow progression HP:0003677
12 distal amyotrophy HP:0003693
13 proximal muscle weakness HP:0003701
14 myofibrillar myopathy HP:0003715
15 progressive distal muscle weakness HP:0009063
16 muscle fiber cytoplasmatic inclusion bodies HP:0100303

Drugs & Therapeutics for Myopathy, Myofibrillar, 3

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Drug clinical trials:

Search ClinicalTrials for Myopathy, Myofibrillar, 3

Search NIH Clinical Center for Myopathy, Myofibrillar, 3

Genetic Tests for Myopathy, Myofibrillar, 3

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Genetic tests related to Myopathy, Myofibrillar, 3:

id Genetic test Affiliating Genes
1 Myotilinopathy20 22 MYOT

Anatomical Context for Myopathy, Myofibrillar, 3

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Animal Models for Myopathy, Myofibrillar, 3 or affiliated genes

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Publications for Myopathy, Myofibrillar, 3

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Variations for Myopathy, Myofibrillar, 3

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UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Myofibrillar, 3:

62
id Symbol AA change Variation ID SNP ID
1MYOTp.Ser55PheVAR_021569
2MYOTp.Ser60CysVAR_021571
3MYOTp.Ser60PheVAR_021572
4MYOTp.Ser95IleVAR_021573

Clinvar genetic disease variations for Myopathy, Myofibrillar, 3:

6
id Gene Variation Type Significance SNP ID Assembly Location
1MYOTNM_006790.2(MYOT): c.164C> T (p.Ser55Phe)single nucleotide variantPathogenicrs121908457GRCh37Chr 5, 137206504: 137206504
2MYOTNM_006790.2(MYOT): c.179C> G (p.Ser60Cys)single nucleotide variantPathogenicrs121908458GRCh37Chr 5, 137206519: 137206519
3MYOTNM_006790.2(MYOT): c.179C> T (p.Ser60Phe)single nucleotide variantPathogenicrs121908458GRCh37Chr 5, 137206519: 137206519
4MYOTNM_006790.2(MYOT): c.284G> T (p.Ser95Ile)single nucleotide variantPathogenicrs121908460GRCh37Chr 5, 137206624: 137206624

Expression for genes affiliated with Myopathy, Myofibrillar, 3

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Search GEO for disease gene expression data for Myopathy, Myofibrillar, 3.

Pathways for genes affiliated with Myopathy, Myofibrillar, 3

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Compounds for genes affiliated with Myopathy, Myofibrillar, 3

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GO Terms for genes affiliated with Myopathy, Myofibrillar, 3

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Products for genes affiliated with Myopathy, Myofibrillar, 3

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

Sources for Myopathy, Myofibrillar, 3

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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