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 51 69 67
Myotilinopathy 11 24 69 26 12 67
Myofibrillar Myopathy 3 11 13
Myopathy Myofibrillar Myotylin-Related 69
 
Myotilin-Related Myopathy 24
Distal Myotilinopathy 53
Mfm Myotilin-Related 69
Mfm3 69

Characteristics:

HPO:

63
myopathy, myofibrillar, 3:
Inheritance: autosomal dominant inheritance
Onset and clinical course: adult onset, slow progression

Classifications:



External Ids:

OMIM51 609200
Disease Ontology11 DOID:0080094
Orphanet53 ORPHA98911
ICD10 via Orphanet30 G71.8
MedGen36 C1836607
MeSH38 D020914

Summaries for Myopathy, Myofibrillar, 3

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UniProtKB/Swiss-Prot:69 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.

OMIM:51 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

Human phenotypes related to Myopathy, Myofibrillar, 3:

 63 (show all 13)
id Description HPO Frequency HPO Source Accession
1 polyneuropathy63 HP:0001271
2 areflexia63 HP:0001284
3 cardiomyopathy63 HP:0001638
4 achilles tendon contracture63 HP:0001771
5 hyporeflexia of lower limbs63 HP:0002600
6 elevated serum creatine phosphokinase63 HP:0003236
7 myalgia63 HP:0003326
8 muscle stiffness63 HP:0003552
9 distal amyotrophy63 HP:0003693
10 proximal muscle weakness63 HP:0003701
11 myofibrillar myopathy63 HP:0003715
12 progressive distal muscle weakness63 HP:0009063
13 muscle fiber cytoplasmatic inclusion bodies63 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 Myotilinopathy26 24 MYOT

Anatomical Context for Myopathy, Myofibrillar, 3

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

35
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:

69
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
1sarcomere organizationGO:00452149.3LDB3, TTN
2muscle contractionGO:00069369.2MYOT, TTN

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of muscleGO:00083079.2MYOT, TTN
2muscle alpha-actinin bindingGO:00513719.1LDB3, TTN

Sources for Myopathy, Myofibrillar, 3

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet