MCID: MYP078
MIFTS: 35

Myopathy, Myofibrillar, 3

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

Aliases & Classifications for Myopathy, Myofibrillar, 3

MalaCards integrated aliases for Myopathy, Myofibrillar, 3:

Name: Myopathy, Myofibrillar, 3 54 71 69
Myotilinopathy 12 24 71 29 13 69
Myofibrillar Myopathy 3 12 14
Myopathy Myofibrillar Myotylin-Related 71
Myotilin-Related Myopathy 24
Distal Myotilinopathy 56
Mfm Myotilin-Related 71
Mfm3 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive disorder
adult onset (mean 60 years)
limb-girdle muscular dystrophy 1a (lgmd1a, ) is an allelic disorder with overlapping clinical features


HPO:

32
myopathy, myofibrillar, 3:
Onset and clinical course adult onset slow progression
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare neurological diseases


Summaries for Myopathy, Myofibrillar, 3

UniProtKB/Swiss-Prot : 71 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 myofibrillar myopathy and ulnar hemimelia, unilateral, and has symptoms including muscle stiffness, areflexia and cardiomyopathy. An important gene associated with Myopathy, Myofibrillar, 3 is MYOT (Myotilin). Affiliated tissues include skeletal muscle.

OMIM : 54
Myofibrillar myopathy refers to a genetically heterogeneous group of muscular disorders characterized by a pathologic morphologic pattern of myofibrillar degradation and abnormal accumulation of proteins involved with the sarcomeric Z disc (summary by Foroud et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419). (609200)

Related Diseases for Myopathy, Myofibrillar, 3

Diseases in the Myofibrillar Myopathy family:

Myopathy, Myofibrillar, 1 Myopathy, Myofibrillar, 7
Myopathy, Myofibrillar, 3 Myopathy, Myofibrillar, 5
Myopathy, Myofibrillar, 4 Myopathy, Myofibrillar, 6
Myopathy, Myofibrillar, 2 Myopathy, Myofibrillar, 8
Dnajb6-Related Myofibrillar Myopathy Fhl1-Related Myofibrillar Myopathy

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

(show all 27)
id Related Disease Score Top Affiliating Genes
1 myofibrillar myopathy 10.8
2 ulnar hemimelia, unilateral 10.2 LDB3 TTN
3 ulnar hemimelia, bilateral 10.1 LDB3 TTN
4 cardiomyopathy, dilated, 1c, with or without lvnc 10.1 LDB3 MYOT
5 tibial hemimelia, bilateral 10.1 LDB3 TTN
6 lyme disease 10.1 MYOT TTN
7 cardiomyopathy, dilated, 1i 10.1 LDB3 MYOT
8 hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation 9.9 LDB3 TTN
9 chronic atrial and intestinal dysrhythmia 9.9 DNAJB6 MYOT
10 chicken egg allergy 9.9 LDB3 TTN
11 dentinogenesis imperfecta, shields type ii 9.9 DNAJB6 MYOT
12 deafness, autosomal dominant 50 9.8 DNAJB6 MYOT
13 myopathy 9.8
14 neuronitis 9.8
15 salih myopathy 9.8 LDB3 MYOT TTN
16 usher syndrome 9.8 LDB3 TTN
17 schizophrenia 16 9.8 DNAJB6 MYOT
18 cataract 16, multiple types 9.6 FLNC LDB3 MYOT
19 peeling skin syndrome 2 9.5 DNAJB6 MYOT TTN
20 long qt syndrome 9 9.5 FLNC TTN
21 autosomal recessive limb-girdle muscular dystrophy type 2b 9.3 DNAJB6 FLNC MYOT
22 nkx2-1-related disorders 9.2 FLNC LDB3 MYOT TTN
23 casr-related disorders 9.1 FLNC LDB3 MYOT TTN
24 periodontosis 8.8 DNAJB6 FLNC MYOT TTN
25 autoimmune thyroid disease 2 8.4 DNAJB6 FLNC LDB3 MYOT TTN
26 clear cell sarcoma 8.3 DNAJB6 FLNC LDB3 MYOT TTN
27 myopathy, spheroid body 7.8 DNAJB6 FLNC INA LDB3 MYOT TTN

Graphical network of the top 20 diseases related to Myopathy, Myofibrillar, 3:



Diseases related to Myopathy, Myofibrillar, 3

Symptoms & Phenotypes for Myopathy, Myofibrillar, 3

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Peripheral Nervous System:
peripheral neuropathy
hyporeflexia/areflexia in lower limbs

Cardiovascular- Heart:
cardiomyopathy

Muscle Soft Tissue:
proximal muscle involvement may occur
muscle atrophy, distal
muscle weakness, distal, progressive
muscle stiffness or aching
emg shows myopathic and neurogenic changes
more
Laboratory- Abnormalities:
increased serum creatine kinase

Skeletal- Feet:
achilles tendon contractures


Clinical features from OMIM:

609200

Human phenotypes related to Myopathy, Myofibrillar, 3:

32 (show all 13)
id Description HPO Frequency HPO Source Accession
1 muscle stiffness 32 HP:0003552
2 areflexia 32 HP:0001284
3 cardiomyopathy 32 HP:0001638
4 myalgia 32 HP:0003326
5 proximal muscle weakness 32 HP:0003701
6 polyneuropathy 32 HP:0001271
7 distal amyotrophy 32 HP:0003693
8 hyporeflexia of lower limbs 32 HP:0002600
9 myofibrillar myopathy 32 HP:0003715
10 achilles tendon contracture 32 HP:0001771
11 elevated serum creatine phosphokinase 32 HP:0003236
12 progressive distal muscle weakness 32 HP:0009063
13 muscle fiber cytoplasmatic inclusion bodies 32 HP:0100303

Drugs & Therapeutics for Myopathy, Myofibrillar, 3

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

Search NIH Clinical Center for Myopathy, Myofibrillar, 3

Genetic Tests for Myopathy, Myofibrillar, 3

Genetic tests related to Myopathy, Myofibrillar, 3:

id Genetic test Affiliating Genes
1 Myotilinopathy 29 24 MYOT

Anatomical Context for Myopathy, Myofibrillar, 3

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

39
Skeletal Muscle

Publications for Myopathy, Myofibrillar, 3

Variations for Myopathy, Myofibrillar, 3

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

71
id Symbol AA change Variation ID SNP ID
1 MYOT p.Ser55Phe VAR_021569
2 MYOT p.Ser60Cys VAR_021571
3 MYOT p.Ser60Phe VAR_021572
4 MYOT p.Ser95Ile VAR_021573

ClinVar genetic disease variations for Myopathy, Myofibrillar, 3:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MYOT NM_006790.2(MYOT): c.164C> T (p.Ser55Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121908457 GRCh37 Chromosome 5, 137206504: 137206504
2 MYOT NM_006790.2(MYOT): c.179C> G (p.Ser60Cys) single nucleotide variant Pathogenic rs121908458 GRCh37 Chromosome 5, 137206519: 137206519
3 MYOT NM_006790.2(MYOT): c.179C> T (p.Ser60Phe) single nucleotide variant Pathogenic rs121908458 GRCh37 Chromosome 5, 137206519: 137206519
4 MYOT NM_006790.2(MYOT): c.284G> T (p.Ser95Ile) single nucleotide variant Pathogenic rs121908460 GRCh37 Chromosome 5, 137206624: 137206624

Expression for Myopathy, Myofibrillar, 3

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

Pathways for Myopathy, Myofibrillar, 3

GO Terms for Myopathy, Myofibrillar, 3

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

id Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.02 DNAJB6 FLNC LDB3 MYOT TTN
2 sarcolemma GO:0042383 8.96 FLNC MYOT

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

id Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 8.96 MYOT TTN
2 sarcomere organization GO:0045214 8.62 LDB3 TTN

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

id Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.26 FLNC TTN
2 cytoskeletal protein binding GO:0008092 9.16 FLNC LDB3
3 structural constituent of muscle GO:0008307 8.96 MYOT TTN
4 muscle alpha-actinin binding GO:0051371 8.62 LDB3 TTN

Sources for Myopathy, Myofibrillar, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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