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MFM3
MCID: MYP078
MIFTS: 46

Myopathy, Myofibrillar, 3 (MFM3)

Categories: Cancer diseases, Cardiovascular diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Myopathy, Myofibrillar, 3

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MalaCards integrated aliases for Myopathy, Myofibrillar, 3:

Name: Myopathy, Myofibrillar, 3 58 76 74
Myotilinopathy 58 12 76 13 74
Myofibrillar Myopathy 3 12 30 6 15
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a 12 60
Muscular Dystrophy, Limb-Girdle, Type 1a 76 13
Limb-Girdle Muscular Dystrophy, Type 1a 30 6
Limb-Girdle Muscular Dystrophy, Type 1e 30 6
Lgmd1a 60 76
Mfm3 58 76
Muscular Dystrophy, Limb-Girdle, Type 1a, Formerly; Lgmd1a, Formerly 58
Muscular Dystrophy, Limb-Girdle, Type 1, Formerly; Lgmd1, Formerly 58
Limb-Girdle Muscular Dystrophy Due to Myotilin Deficiency 60
Muscular Dystrophy, Limb-Girdle, Type 1a, Formerly 58
Muscular Dystrophy, Limb-Girdle, Type 1, Formerly 58
Dystrophy, Muscular, Limb-Girdle, Type 1a 41
Dystrophy, Muscular, Limb-Girdle, Type 1e 41
Myopathy, Myofibrillar, Myotilin-Related 58
Muscular Dystrophy, Limb-Girdle, Type 1 76
Myopathy Myofibrillar Myotylin-Related 76
Limb-Girdle Muscular Dystrophy 1a 76
Myopathy, Myofibrillar, Type 3 41
Distal Myotilinopathy 60
Mfm Myotilin-Related 76
Lgmd1a, Formerly 58
Lgmd1, Formerly 58
Lgmd1 76

Characteristics:

Orphanet epidemiological data:

60
autosomal dominant limb-girdle muscular dystrophy type 1a
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult,Elderly; Age of death: normal life expectancy;

OMIM:

58
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:

33
myopathy, myofibrillar, 3:
Onset and clinical course adult onset slow progression
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Neuronal diseases Muscle diseases Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 34 35
Orphanet: 60  
Rare neurological diseases


Sources

Summaries for Myopathy, Myofibrillar, 3

About this section
UniProtKB/Swiss-Prot : 76 Myopathy, myofibrillar, 3: A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk 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 muscular dystrophy, limb-girdle, autosomal dominant 1 and myofibrillar myopathy, and has symptoms including waddling gait An important gene associated with Myopathy, Myofibrillar, 3 is MYOT (Myotilin), and among its related pathways/superpathways is Striated Muscle Contraction. Affiliated tissues include skeletal muscle, and related phenotypes are peripheral neuropathy and difficulty walking

Disease Ontology : 12 A myofibrillar myopathy that has material basis in heterozygous mutation in the TTID gene on chromosome 5q31.

OMIM : 58 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)

Sources

Related Diseases for Myopathy, Myofibrillar, 3

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Diseases in the Myofibrillar Myopathy family:

Myopathy, Myofibrillar, 1 Myopathy, Myofibrillar, 2
Myopathy, Myofibrillar, 3 Myopathy, Myofibrillar, 4
Myopathy, Myofibrillar, 5 Myopathy, Myofibrillar, 6
Myopathy, Myofibrillar, 7 Myopathy, Myofibrillar, 8

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

(show all 47)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, autosomal dominant 1 33.1 DNAJB6 MYOT
2 myofibrillar myopathy 31.1 DNAJB6 FLNC MYOT TCAP TTN
3 bethlem myopathy 1 30.4 CAPN3 DYSF
4 myopathy 29.4 CAPN3 DYSF FLNC MYOT TTN
5 limb-girdle muscular dystrophy 27.4 CAPN3 DNAJB6 DYSF FKRP FLNC MYOT
6 muscular dystrophy 27.4 CAPN3 DNAJB6 DYSF FKRP FLNC MYOT
7 limb-girdle muscular dystrophy type 1a 11.1
8 muscular dystrophy, limb-girdle, type 1h 10.3 DNAJB6 MYOT
9 autosomal recessive limb-girdle muscular dystrophy type 2q 10.3 DNAJB6 MYOT
10 myopathy, myofibrillar, 1 10.2 FLNC MYOT
11 myopathy, myofibrillar, 2 10.1 FLNC MYOT
12 tibial muscular dystrophy 10.1 CAPN3 TTN
13 autosomal dominant limb-girdle muscular dystrophy 10.1 DNAJB6 FLNC MYOT
14 autosomal recessive limb-girdle muscular dystrophy type 2f 10.1 CAPN3 DYSF
15 autosomal recessive limb-girdle muscular dystrophy type 2c 10.0 CAPN3 DYSF
16 autosomal recessive limb-girdle muscular dystrophy type 2b 10.0 CAPN3 DYSF
17 leukemia, acute myeloid 10.0
18 leukemia 10.0
19 myeloid leukemia 10.0
20 dysferlinopathy 10.0 CAPN3 DYSF
21 rigid spine muscular dystrophy 1 9.9 DYSF TTN
22 restrictive cardiomyopathy 9.9 FLNC TTN
23 familial isolated dilated cardiomyopathy 9.9 TCAP TTN
24 paresthesia 9.9 CAPN3 FKRP
25 polyglucosan body myopathy 1 with or without immunodeficiency 9.9 CAPN3 FKRP
26 neuromuscular disease 9.9 MYOT TTN
27 myositis 9.8 CAPN3 DYSF TTN
28 autosomal recessive limb-girdle muscular dystrophy type 2l 9.8 DYSF FKRP
29 myopathy, spheroid body 9.8 DNAJB6 FLNC MYOT TTN
30 atrial standstill 1 9.7 FKRP MYOT TTN
31 muscular dystrophy, congenital, lmna-related 9.7 FKRP TTN
32 miyoshi muscular dystrophy 9.7 CAPN3 DYSF MYOT TTN
33 autosomal recessive limb-girdle muscular dystrophy type 2d 9.6 CAPN3 DYSF FKRP
34 autosomal recessive limb-girdle muscular dystrophy type 2g 9.6 CAPN3 DYSF MYOT TCAP
35 isolated hyperckemia 9.6 CAPN3 FKRP TCAP
36 autosomal recessive limb-girdle muscular dystrophy type 2j 9.5 CAPN3 FKRP MYOT TTN
37 autosomal recessive limb-girdle muscular dystrophy type 2h 9.4 CAPN3 FKRP MYOT TRIM32
38 muscle tissue disease 9.4 CAPN3 DYSF FKRP MYOT
39 dilated cardiomyopathy 9.3 FKRP FLNC TCAP TTN
40 autosomal recessive limb-girdle muscular dystrophy type 2a 9.0 CAPN3 DNAJB6 DYSF FKRP MYOT TTN
41 autosomal recessive limb-girdle muscular dystrophy 9.0 CAPN3 DYSF FKRP TCAP TRIM32
42 muscular dystrophy, limb-girdle, autosomal recessive 8 8.8 CAPN3 DYSF FKRP TCAP TRIM32 TTN
43 muscular dystrophy-dystroglycanopathy , type c, 5 8.7 CAPN3 DYSF FKRP TCAP TRIM32 TTN
44 muscular dystrophy, limb-girdle, autosomal recessive 6 8.7 CAPN3 DYSF FKRP TCAP TRIM32 TTN
45 muscular dystrophy, limb-girdle, autosomal recessive 2 8.6 CAPN3 DYSF FKRP MYOT TCAP TRIM32
46 muscular dystrophy, limb-girdle, autosomal recessive 7 8.6 CAPN3 DYSF FKRP MYOT TCAP TRIM32
47 muscular disease 8.5 CAPN3 DNAJB6 DYSF FKRP FLNC MYOT

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



Diseases related to Myopathy, Myofibrillar, 3
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Symptoms & Phenotypes for Myopathy, Myofibrillar, 3

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Human phenotypes related to Myopathy, Myofibrillar, 3:

60 33 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 peripheral neuropathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0009830
2 difficulty walking 60 33 hallmark (90%) Very frequent (99-80%) HP:0002355
3 hyporeflexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001265
4 proximal muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0003701
5 shoulder girdle muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0003547
6 progressive distal muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0009063
7 abnormal muscle fiber myotilin 60 33 hallmark (90%) Very frequent (99-80%) HP:0030226
8 dysarthria 60 33 frequent (33%) Frequent (79-30%) HP:0001260
9 inability to walk 60 33 frequent (33%) Frequent (79-30%) HP:0002540
10 emg: myopathic abnormalities 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0003458
11 multiple joint contractures 60 33 frequent (33%) Frequent (79-30%) HP:0002828
12 muscle stiffness 60 33 frequent (33%) Frequent (79-30%) HP:0003552
13 nasal speech 60 33 frequent (33%) Frequent (79-30%) HP:0001611
14 increased variability in muscle fiber diameter 60 33 frequent (33%) Frequent (79-30%) HP:0003557
15 foot dorsiflexor weakness 60 33 frequent (33%) Frequent (79-30%) HP:0009027
16 difficulty climbing stairs 60 33 frequent (33%) Frequent (79-30%) HP:0003551
17 distal muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0002460
18 increased endomysial connective tissue 60 33 frequent (33%) Frequent (79-30%) HP:0100297
19 distal amyotrophy 60 33 frequent (33%) Frequent (79-30%) HP:0003693
20 limited elbow flexion 60 33 frequent (33%) Frequent (79-30%) HP:0006376
21 difficulty standing 60 33 frequent (33%) Frequent (79-30%) HP:0003698
22 fatty replacement of skeletal muscle 60 33 frequent (33%) Frequent (79-30%) HP:0012548
23 autophagic vacuoles 60 33 frequent (33%) Frequent (79-30%) HP:0003736
24 limited knee flexion/extension 60 33 frequent (33%) Frequent (79-30%) HP:0005085
25 hip flexor weakness 60 33 frequent (33%) Frequent (79-30%) HP:0012515
26 loss of ability to walk in first decade 60 33 frequent (33%) Frequent (79-30%) HP:0006794
27 elevated serum creatine kinase 33 frequent (33%) HP:0003236
28 dysphagia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002015
29 cardiomyopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001638
30 respiratory failure 60 33 occasional (7.5%) Occasional (29-5%) HP:0002878
31 reduced vital capacity 60 33 occasional (7.5%) Occasional (29-5%) HP:0002792
32 progressive proximal muscle weakness 60 33 occasional (7.5%) Occasional (29-5%) HP:0009073
33 facial hypotonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000297
34 reduced maximal inspiratory pressure 60 33 occasional (7.5%) Occasional (29-5%) HP:0012496
35 respiratory insufficiency 60 Occasional (29-5%)
36 elevated serum creatine phosphokinase 60 Frequent (79-30%),Frequent (79-30%)
37 achilles tendon contracture 33 HP:0001771
38 myalgia 33 HP:0003326
39 pelvic girdle muscle weakness 60 Very frequent (99-80%)
40 functional respiratory abnormality 60 Occasional (29-5%)
41 areflexia 33 HP:0001284
42 polyneuropathy 33 HP:0001271
43 myofibrillar myopathy 33 HP:0003715
44 hyporeflexia of lower limbs 33 HP:0002600
45 muscle fiber cytoplasmatic inclusion bodies 33 HP:0100303

Symptoms via clinical synopsis from OMIM:

58
Neurologic Peripheral Nervous System:
peripheral neuropathy
hyporeflexia/areflexia in lower limbs

Laboratory Abnormalities:
increased serum creatine kinase

Muscle Soft Tissue:
muscle atrophy, distal
proximal muscle involvement may occur
muscle weakness, distal, progressive
muscle stiffness or aching
emg shows myopathic and neurogenic changes
more
Cardiovascular Heart:
cardiomyopathy

Skeletal Feet:
achilles tendon contractures

Clinical features from OMIM:

609200

UMLS symptoms related to Myopathy, Myofibrillar, 3:


waddling gait

MGI Mouse Phenotypes related to Myopathy, Myofibrillar, 3:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.63 DYSF FKRP FLNC TCAP TRIM32 TTN
2 homeostasis/metabolism MP:0005376 9.5 CAPN3 DYSF FKRP FLNC TCAP TRIM32
3 muscle MP:0005369 9.17 CAPN3 DYSF FKRP FLNC TCAP TRIM32
Sources

Drugs & Therapeutics for Myopathy, Myofibrillar, 3

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Search Clinical Trials , NIH Clinical Center for Myopathy, Myofibrillar, 3

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Genetic Tests for Myopathy, Myofibrillar, 3

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Genetic tests related to Myopathy, Myofibrillar, 3:

# Genetic test Affiliating Genes
1 Myofibrillar Myopathy 3 30
2 Limb-Girdle Muscular Dystrophy, Type 1a 30 MYOT
3 Limb-Girdle Muscular Dystrophy, Type 1e 30 DNAJB6
Sources

Anatomical Context for Myopathy, Myofibrillar, 3

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

42
Skeletal Muscle
Sources

Publications for Myopathy, Myofibrillar, 3

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Articles related to Myopathy, Myofibrillar, 3:

# Title Authors Year
1
Myotilinopathy unmasked by statin treatment: A case report. ( 29350769 )
2018
2
New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses. ( 26842778 )
2016
3
Developmental expression of myotilin, a gene mutated in limb-girdle muscular dystrophy type 1A. ( 11335118 )
2001
4
Use of a CEPH meiotic breakpoint panel to refine the locus of limb-girdle muscular dystrophy type 1A (LGMD1A) to a 2-Mb interval on 5q31. ( 9828127 )
1998
5
Bethlem myopathy is not allelic to limb-girdle muscular dystrophy type 1A. ( 8533815 )
1995
Sources

Variations for Myopathy, Myofibrillar, 3

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

76
# Symbol AA change Variation ID SNP ID
1 MYOT p.Ser55Phe VAR_021569
2 MYOT p.Thr57Ile VAR_021570 rs28937597
3 MYOT p.Ser60Cys VAR_021571
4 MYOT p.Ser60Phe VAR_021572
5 MYOT p.Ser95Ile VAR_021573

ClinVar genetic disease variations for Myopathy, Myofibrillar, 3:

6 (show top 50) (show all 156)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYOT NM_006790.2(MYOT): c.1439A> G (p.Glu480Gly) single nucleotide variant Uncertain significance rs727504026 GRCh37 Chromosome 5, 137223016: 137223016
2 MYOT NM_006790.2(MYOT): c.1439A> G (p.Glu480Gly) single nucleotide variant Uncertain significance rs727504026 GRCh38 Chromosome 5, 137887327: 137887327
3 MYOT NM_006790.2(MYOT): c.981T> C (p.Asn327=) single nucleotide variant Likely benign rs148479015 GRCh37 Chromosome 5, 137219237: 137219237
4 MYOT NM_006790.2(MYOT): c.981T> C (p.Asn327=) single nucleotide variant Likely benign rs148479015 GRCh38 Chromosome 5, 137883548: 137883548
5 MYOT NM_006790.2(MYOT): c.1008G> T (p.Val336=) single nucleotide variant Benign/Likely benign rs142828368 GRCh37 Chromosome 5, 137219264: 137219264
6 MYOT NM_006790.2(MYOT): c.1008G> T (p.Val336=) single nucleotide variant Benign/Likely benign rs142828368 GRCh38 Chromosome 5, 137883575: 137883575
7 MYOT NM_006790.2(MYOT): c.170C> T (p.Thr57Ile) single nucleotide variant Pathogenic rs28937597 GRCh37 Chromosome 5, 137206510: 137206510
8 MYOT NM_006790.2(MYOT): c.170C> T (p.Thr57Ile) single nucleotide variant Pathogenic rs28937597 GRCh38 Chromosome 5, 137870821: 137870821
9 MYOT NM_006790.2(MYOT): c.164C> T (p.Ser55Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121908457 GRCh37 Chromosome 5, 137206504: 137206504
10 MYOT NM_006790.2(MYOT): c.164C> T (p.Ser55Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121908457 GRCh38 Chromosome 5, 137870815: 137870815
11 MYOT NM_006790.2(MYOT): c.179C> G (p.Ser60Cys) single nucleotide variant Pathogenic rs121908458 GRCh37 Chromosome 5, 137206519: 137206519
12 MYOT NM_006790.2(MYOT): c.179C> G (p.Ser60Cys) single nucleotide variant Pathogenic rs121908458 GRCh38 Chromosome 5, 137870830: 137870830
13 MYOT NM_006790.2(MYOT): c.179C> T (p.Ser60Phe) single nucleotide variant Pathogenic rs121908458 GRCh37 Chromosome 5, 137206519: 137206519
14 MYOT NM_006790.2(MYOT): c.179C> T (p.Ser60Phe) single nucleotide variant Pathogenic rs121908458 GRCh38 Chromosome 5, 137870830: 137870830
15 MYOT NM_006790.2(MYOT): c.284G> T (p.Ser95Ile) single nucleotide variant Pathogenic rs121908460 GRCh37 Chromosome 5, 137206624: 137206624
16 MYOT NM_006790.2(MYOT): c.284G> T (p.Ser95Ile) single nucleotide variant Pathogenic rs121908460 GRCh38 Chromosome 5, 137870935: 137870935
17 MYOT NM_006790.2(MYOT): c.17G> A (p.Arg6His) single nucleotide variant Uncertain significance rs387906882 GRCh37 Chromosome 5, 137206357: 137206357
18 MYOT NM_006790.2(MYOT): c.17G> A (p.Arg6His) single nucleotide variant Uncertain significance rs387906882 GRCh38 Chromosome 5, 137870668: 137870668
19 DNAJB6 NM_058246.3(DNAJB6): c.277T> C (p.Phe93Leu) single nucleotide variant Pathogenic rs387907046 GRCh37 Chromosome 7, 157160108: 157160108
20 DNAJB6 NM_058246.3(DNAJB6): c.277T> C (p.Phe93Leu) single nucleotide variant Pathogenic rs387907046 GRCh38 Chromosome 7, 157367414: 157367414
21 DNAJB6 NM_058246.3(DNAJB6): c.287C> G (p.Pro96Arg) single nucleotide variant Pathogenic rs387907047 GRCh37 Chromosome 7, 157160118: 157160118
22 DNAJB6 NM_058246.3(DNAJB6): c.287C> G (p.Pro96Arg) single nucleotide variant Pathogenic rs387907047 GRCh38 Chromosome 7, 157367424: 157367424
23 DNAJB6 NM_058246.3(DNAJB6): c.279C> G (p.Phe93Leu) single nucleotide variant Pathogenic rs149278319 GRCh37 Chromosome 7, 157160110: 157160110
24 DNAJB6 NM_058246.3(DNAJB6): c.279C> G (p.Phe93Leu) single nucleotide variant Pathogenic rs149278319 GRCh38 Chromosome 7, 157367416: 157367416
25 DNAJB6 NM_058246.3(DNAJB6): c.279C> A (p.Phe93Leu) single nucleotide variant Pathogenic rs149278319 GRCh37 Chromosome 7, 157160110: 157160110
26 DNAJB6 NM_058246.3(DNAJB6): c.279C> A (p.Phe93Leu) single nucleotide variant Pathogenic rs149278319 GRCh38 Chromosome 7, 157367416: 157367416
27 DNAJB6 NM_058246.3(DNAJB6): c.265T> A (p.Phe89Ile) single nucleotide variant Pathogenic rs387907150 GRCh37 Chromosome 7, 157160096: 157160096
28 DNAJB6 NM_058246.3(DNAJB6): c.265T> A (p.Phe89Ile) single nucleotide variant Pathogenic rs387907150 GRCh38 Chromosome 7, 157367402: 157367402
29 MYOT NM_006790.2(MYOT): c.107_110delAACA (p.Lys36Serfs) deletion Uncertain significance rs398124238 GRCh37 Chromosome 5, 137206447: 137206450
30 MYOT NM_006790.2(MYOT): c.107_110delAACA (p.Lys36Serfs) deletion Uncertain significance rs398124238 GRCh38 Chromosome 5, 137870758: 137870761
31 MYOT NM_006790.2(MYOT): c.1190+7T> C single nucleotide variant Benign/Likely benign rs192405601 GRCh37 Chromosome 5, 137221909: 137221909
32 MYOT NM_006790.2(MYOT): c.1190+7T> C single nucleotide variant Benign/Likely benign rs192405601 GRCh38 Chromosome 5, 137886220: 137886220
33 MYOT NM_006790.2(MYOT): c.343G> A (p.Ala115Thr) single nucleotide variant Benign/Likely benign rs114194130 GRCh37 Chromosome 5, 137206683: 137206683
34 MYOT NM_006790.2(MYOT): c.343G> A (p.Ala115Thr) single nucleotide variant Benign/Likely benign rs114194130 GRCh38 Chromosome 5, 137870994: 137870994
35 MYOT NM_006790.2(MYOT): c.445G> C (p.Glu149Gln) single nucleotide variant Likely benign rs71578935 GRCh37 Chromosome 5, 137211606: 137211606
36 MYOT NM_006790.2(MYOT): c.445G> C (p.Glu149Gln) single nucleotide variant Likely benign rs71578935 GRCh38 Chromosome 5, 137875917: 137875917
37 MYOT NM_006790.2(MYOT): c.617G> A (p.Gly206Asp) single nucleotide variant Benign/Likely benign rs151094883 GRCh37 Chromosome 5, 137213294: 137213294
38 MYOT NM_006790.2(MYOT): c.617G> A (p.Gly206Asp) single nucleotide variant Benign/Likely benign rs151094883 GRCh38 Chromosome 5, 137877605: 137877605
39 MYOT NM_006790.2(MYOT): c.149A> G (p.Gln50Arg) single nucleotide variant Benign/Likely benign rs34717730 GRCh37 Chromosome 5, 137206489: 137206489
40 MYOT NM_006790.2(MYOT): c.149A> G (p.Gln50Arg) single nucleotide variant Benign/Likely benign rs34717730 GRCh38 Chromosome 5, 137870800: 137870800
41 MYOT NM_006790.2(MYOT): c.780G> A (p.Ser260=) single nucleotide variant Benign/Likely benign rs116773838 GRCh37 Chromosome 5, 137217758: 137217758
42 MYOT NM_006790.2(MYOT): c.780G> A (p.Ser260=) single nucleotide variant Benign/Likely benign rs116773838 GRCh38 Chromosome 5, 137882069: 137882069
43 DNAJB6 NM_058246.3(DNAJB6): c.298T> G (p.Phe100Val) single nucleotide variant Pathogenic rs869320700 GRCh37 Chromosome 7, 157160129: 157160129
44 DNAJB6 NM_058246.3(DNAJB6): c.298T> G (p.Phe100Val) single nucleotide variant Pathogenic rs869320700 GRCh38 Chromosome 7, 157367435: 157367435
45 DNAJB6 NM_058246.3(DNAJB6): c.271T> A (p.Phe91Ile) single nucleotide variant Pathogenic rs869320701 GRCh37 Chromosome 7, 157160102: 157160102
46 DNAJB6 NM_058246.3(DNAJB6): c.271T> A (p.Phe91Ile) single nucleotide variant Pathogenic rs869320701 GRCh38 Chromosome 7, 157367408: 157367408
47 DNAJB6 NM_058246.3(DNAJB6): c.273C> G (p.Phe91Leu) single nucleotide variant Pathogenic rs759982570 GRCh38 Chromosome 7, 157367410: 157367410
48 DNAJB6 NM_058246.3(DNAJB6): c.273C> G (p.Phe91Leu) single nucleotide variant Pathogenic rs759982570 GRCh37 Chromosome 7, 157160104: 157160104
49 DNAJB6 NM_058246.3(DNAJB6): c.346+5G> A single nucleotide variant Pathogenic rs869320702 GRCh38 Chromosome 7, 157367488: 157367488
50 DNAJB6 NM_058246.3(DNAJB6): c.346+5G> A single nucleotide variant Pathogenic rs869320702 GRCh37 Chromosome 7, 157160182: 157160182
Sources

Expression for Myopathy, Myofibrillar, 3

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

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

# Super pathways Score Top Affiliating Genes
1
Striated Muscle Contraction 1 67
10.48 TCAP TTN
Sources

GO Terms for Myopathy, Myofibrillar, 3

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

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.91 CAPN3 DNAJB6 FKRP FLNC TCAP TRIM32
2 sarcomere GO:0030017 9.32 TCAP TTN
3 T-tubule GO:0030315 9.26 CAPN3 DYSF
4 sarcolemma GO:0042383 9.26 DYSF FKRP FLNC MYOT
5 I band GO:0031674 9.16 TCAP TTN
6 Z disc GO:0030018 9.1 CAPN3 DNAJB6 FLNC MYOT TCAP TTN

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 regulation of catalytic activity GO:0050790 9.58 CAPN3 TTN
2 fat cell differentiation GO:0045444 9.57 DYSF TRIM32
3 response to calcium ion GO:0051592 9.56 CAPN3 TTN
4 cardiac muscle contraction GO:0060048 9.55 TCAP TTN
5 muscle filament sliding GO:0030049 9.54 TCAP TTN
6 muscle contraction GO:0006936 9.54 DYSF MYOT TTN
7 cardiac muscle tissue morphogenesis GO:0055008 9.52 TCAP TTN
8 muscle cell cellular homeostasis GO:0046716 9.51 CAPN3 TRIM32
9 cardiac myofibril assembly GO:0055003 9.49 TCAP TTN
10 positive regulation of proteolysis GO:0045862 9.48 CAPN3 TRIM32
11 cardiac muscle fiber development GO:0048739 9.46 TCAP TTN
12 skeletal muscle thin filament assembly GO:0030240 9.43 TCAP TTN
13 muscle fiber development GO:0048747 9.4 DYSF FLNC
14 cardiac muscle hypertrophy GO:0003300 9.32 TCAP TTN
15 skeletal muscle myosin thick filament assembly GO:0030241 9.26 TCAP TTN
16 detection of muscle stretch GO:0035995 9.16 TCAP TTN
17 sarcomerogenesis GO:0048769 8.96 TCAP TTN
18 sarcomere organization GO:0045214 8.8 CAPN3 TCAP TTN

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

# Name GO ID Score Top Affiliating Genes
1 protein self-association GO:0043621 9.16 TRIM32 TTN
2 titin binding GO:0031432 8.96 CAPN3 TCAP
3 structural constituent of muscle GO:0008307 8.92 CAPN3 MYOT TCAP TTN
Sources

Sources for Myopathy, Myofibrillar, 3

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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