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 52 70 68
Myotilinopathy 11 24 70 27 12 68
Myofibrillar Myopathy 3 11 13
Myopathy Myofibrillar Myotylin-Related 70
 
Myotilin-Related Myopathy 24
Distal Myotilinopathy 54
Mfm Myotilin-Related 70
Mfm3 70

Characteristics:

HPO:

64
myopathy, myofibrillar, 3:
Inheritance: autosomal dominant inheritance
Onset and clinical course: adult onset, slow progression

Classifications:



External Ids:

OMIM52 609200
Disease Ontology11 DOID:0080094
Orphanet54 ORPHA98911
ICD10 via Orphanet31 G71.8
MedGen37 C1836607
MeSH39 D020914

Summaries for Myopathy, Myofibrillar, 3

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UniProtKB/Swiss-Prot:70 Myopathy, myofibrillar, 3: A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disc and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM3 is 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, and related mouse phenotype Decreased ionizing radiation sensitivity.

OMIM:52 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 & Phenotypes for Myopathy, Myofibrillar, 3

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Symptoms by clinical synopsis from OMIM:

609200

Clinical features from OMIM:

609200

Human phenotypes related to Myopathy, Myofibrillar, 3:

 64 (show all 13)
id Description HPO Frequency HPO Source Accession
1 polyneuropathy64 HP:0001271
2 areflexia64 HP:0001284
3 cardiomyopathy64 HP:0001638
4 achilles tendon contracture64 HP:0001771
5 hyporeflexia of lower limbs64 HP:0002600
6 elevated serum creatine phosphokinase64 HP:0003236
7 myalgia64 HP:0003326
8 muscle stiffness64 HP:0003552
9 distal amyotrophy64 HP:0003693
10 proximal muscle weakness64 HP:0003701
11 myofibrillar myopathy64 HP:0003715
12 progressive distal muscle weakness64 HP:0009063
13 muscle fiber cytoplasmatic inclusion bodies64 HP:0100303

GenomeRNAi Phenotypes related to Myopathy, Myofibrillar, 3 according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00232-A-18.2INA, MYOT, REST, TTN

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 Myotilinopathy27 24 MYOT

Anatomical Context for Myopathy, Myofibrillar, 3

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

36
Skeletal muscle

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:

70
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)SNVPathogenicrs121908457GRCh37Chr 5, 137206504: 137206504
2MYOTNM_006790.2(MYOT): c.179C> G (p.Ser60Cys)SNVPathogenicrs121908458GRCh37Chr 5, 137206519: 137206519
3MYOTNM_006790.2(MYOT): c.179C> T (p.Ser60Phe)SNVPathogenicrs121908458GRCh37Chr 5, 137206519: 137206519
4MYOTNM_006790.2(MYOT): c.284G> T (p.Ser95Ile)SNVPathogenicrs121908460GRCh37Chr 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:00069369.6MYOT, TTN
2sarcomere organizationGO:00452149.0LDB3, TTN

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

idNameGO IDScoreTop Affiliating Genes
1muscle alpha-actinin bindingGO:00513719.5LDB3, TTN
2structural constituent of muscleGO:00083079.2MYOT, TTN

Sources for Myopathy, Myofibrillar, 3

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet