MCID: MYP078
MIFTS: 28

Myopathy, Myofibrillar, 3 malady

Genetic diseases, Cardiovascular diseases, Muscle diseases, Rare diseases, Neuronal diseases categories

Aliases & Classifications for Myopathy, Myofibrillar, 3

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Aliases & Descriptions for Myopathy, Myofibrillar, 3:

Name: Myopathy, Myofibrillar, 3 49 67
Myotilinopathy 11 22 24 65 67
Myopathy Myofibrillar Myotylin-Related 67
 
Myotilin-Related Myopathy 22
Mfm Myotilin-Related 67
Mfm3 67


Classifications:



External Ids:

OMIM49 609200
MedGen34 C1836607
MeSH36 D020914

Summaries for Myopathy, Myofibrillar, 3

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UniProtKB/Swiss-Prot:67 Myopathy, myofibrillar, 3: A neuromuscular disorder characterized by progressive skeletal muscle weakness greater distally than proximally, tight heel cords, hyporeflexia, cardiomyopathy and peripheral neuropathy in some patients. Affected muscle exhibits disorganization and streaming of the Z-line, presence of large hyaline structures, excessive accumulation of myotilin and other ectopically expressed proteins and prominent congophilic deposits.

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). Affiliated tissues include skeletal muscle.

OMIM:49 Myofibrillar myopathy refers to a genetically heterogeneous group of muscular disorders characterized by a pathologic... (609200) more...

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, 110.1
4neuronitis10.1
5myopathy10.1

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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Interventional clinical trials:

Search ClinicalTrials, 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 Myotilinopathy22 24 MYOT

Anatomical Context for Myopathy, Myofibrillar, 3

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MalaCards organs/tissues related to Myopathy, Myofibrillar, 3:

33
Skeletal muscle

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:

67
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:

5
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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GO Terms for genes affiliated with Myopathy, Myofibrillar, 3

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Sources for Myopathy, Myofibrillar, 3

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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