MCID: MYP078
MIFTS: 33

Myopathy, Myofibrillar, 3 malady

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Muscle diseases, Cardiovascular diseases

Aliases & Classifications for Myopathy, Myofibrillar, 3

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Aliases & Descriptions for Myopathy, Myofibrillar, 3:

Name: Myopathy, Myofibrillar, 3 50 68
Myotilinopathy 11 23 68 25 12 66
Myofibrillar Myopathy 3 11 13
Myopathy Myofibrillar Myotylin-Related 68
 
Myotilin-Related Myopathy 23
Distal Myotilinopathy 52
Mfm Myotilin-Related 68
Mfm3 68

Characteristics:

HPO:

62
myopathy, myofibrillar, 3:
Inheritance: autosomal dominant inheritance
Onset and clinical course: adult onset, slow progression


Classifications:



External Ids:

OMIM50 609200
Disease Ontology11 DOID:0080094
Orphanet52 ORPHA98911
ICD10 via Orphanet29 G71.8
MedGen35 C1836607
MeSH37 D020914

Summaries for Myopathy, Myofibrillar, 3

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UniProtKB/Swiss-Prot:68 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 myopathy, myofibrillar, 1 and myofibrillar myopathy, and has symptoms including polyneuropathy, areflexia and cardiomyopathy. An important gene associated with Myopathy, Myofibrillar, 3 is MYOT (Myotilin). Affiliated tissues include skeletal muscle.

OMIM:50 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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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 13)
id Description Frequency HPO Source Accession
1 polyneuropathy HP:0001271
2 areflexia HP:0001284
3 cardiomyopathy HP:0001638
4 achilles tendon contracture HP:0001771
5 hyporeflexia of lower limbs HP:0002600
6 elevated serum creatine phosphokinase HP:0003236
7 myalgia HP:0003326
8 muscle stiffness HP:0003552
9 distal amyotrophy HP:0003693
10 proximal muscle weakness HP:0003701
11 myofibrillar myopathy HP:0003715
12 progressive distal muscle weakness HP:0009063
13 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 Myotilinopathy25 23 MYOT

Anatomical Context for Myopathy, Myofibrillar, 3

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

34
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:

68
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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Cellular components related to Myopathy, Myofibrillar, 3 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1Z discGO:00300188.2DNAJB6, LDB3, MYOT, TTN

Biological processes related to Myopathy, Myofibrillar, 3 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1muscle contractionGO:00069369.5MYOT, TTN
2sarcomere organizationGO:00452149.4LDB3, TTN

Molecular functions related to Myopathy, Myofibrillar, 3 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of muscleGO:00083079.5MYOT, TTN
2muscle alpha-actinin bindingGO:00513719.2LDB3, TTN

Sources for Myopathy, Myofibrillar, 3

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet