MFM3
MCID: MYP078
MIFTS: 51

Myopathy, Myofibrillar, 3 (MFM3)

Categories: Cancer diseases, Cardiovascular diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases, Smell/Taste diseases

Aliases & Classifications for Myopathy, Myofibrillar, 3

MalaCards integrated aliases for Myopathy, Myofibrillar, 3:

Name: Myopathy, Myofibrillar, 3 57 72 70
Myotilinopathy 57 12 58 72 13 70
Myofibrillar Myopathy 3 12 29 6 15
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a 12 58
Muscular Dystrophy, Limb-Girdle, Type 1a 72 70
Lgmd1a 58 72
Mfm3 57 72
Muscular Dystrophy, Limb-Girdle, Type 1a, Formerly; Lgmd1a, Formerly 57
Muscular Dystrophy, Limb-Girdle, Type 1, Formerly; Lgmd1, Formerly 57
Limb-Girdle Muscular Dystrophy Due to Myotilin Deficiency 58
Muscular Dystrophy, Limb-Girdle, Type 1a, Formerly 57
Muscular Dystrophy, Limb-Girdle, Type 1, Formerly 57
Qualitative or Quantitative Defects of Myotilin 58
Myopathy, Myofibrillar, Myotilin-Related 57
Muscular Dystrophy, Limb-Girdle, Type 1 72
Myopathy Myofibrillar Myotylin-Related 72
Limb-Girdle Muscular Dystrophy 1a 72
Myopathy, Myofibrillar, Type 3 39
Distal Myotilinopathy 58
Mfm Myotilin-Related 72
Lgmd1a, Formerly 57
Lgmd1, Formerly 57
Lgmd1 72

Characteristics:

Orphanet epidemiological data:

58
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®:

57 (Updated 20-May-2021)
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:

31
myopathy, myofibrillar, 3:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Myopathy, Myofibrillar, 3

UniProtKB/Swiss-Prot : 72 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 limb-girdle muscular dystrophy type 1a and autosomal dominant distal myopathy. An important gene associated with Myopathy, Myofibrillar, 3 is MYOT (Myotilin), and among its related pathways/superpathways are Cytoskeleton remodeling Neurofilaments and Striated Muscle Contraction. Affiliated tissues include skeletal muscle, heart and myeloid, and related phenotypes are peripheral neuropathy and hyporeflexia

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

OMIM® : 57 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) (Updated 20-May-2021)

Related Diseases for Myopathy, Myofibrillar, 3

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
Myofibrillar Myopathy 10 Myofibrillar Myopathy 11

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

(show top 50) (show all 117)
# Related Disease Score Top Affiliating Genes
1 limb-girdle muscular dystrophy type 1a 29.6 TTN TCAP MYOT FLNC DYSF CAPN3
2 autosomal dominant distal myopathy 29.5 TTN MYOT DMD
3 limb-girdle muscular dystrophy 29.3 TTN TCAP PLEC MYOT DYSF CAPN3
4 centronuclear myopathy 29.3 TTN DYSF DMD
5 myopathy, spheroid body 29.3 TCAP MYPN MYOZ1 MYOT LDB3 FLNC
6 myopathy, myofibrillar, 2 29.2 SYNC PLEC MYOT LDB3 FLNC DNAJB6
7 autosomal dominant limb-girdle muscular dystrophy 29.2 TCAP MYOT FLNC DNAJB6 CAPN3 BAG3
8 miyoshi muscular dystrophy 28.6 TTN TCAP MYOT FLNC DYSF DMD
9 left ventricular noncompaction 28.2 TTN TCAP MYPN MYOZ1 MYOT LDB3
10 nonaka myopathy 28.2 TTN MYOT LDB3 FLNC DYSF DNAJB6
11 myofibrillar myopathy 28.1 TTN TCAP SYNM SYNC PLEC MYPN
12 muscular dystrophy 27.3 TTN TCAP SYNC PLEC MYOT LDB3
13 myopathy, myofibrillar, 1 27.1 TTN SYNM SYNC PLEC MYPN MYOT
14 myopathy 26.9 TTN TCAP SYNM SYNC PLEC MYPN
15 scapuloperoneal syndrome, neurogenic, kaeser type 10.3 MYOT LDB3
16 cardiomyopathy, familial restrictive, 2 10.3 MYPN FLNC
17 left ventricular noncompaction 1 10.3 MYPN LDB3
18 muscular dystrophy, limb-girdle, type 1h 10.3 MYOT DNAJB6
19 cardiomyopathy, familial restrictive, 3 10.2 MYPN FLNC
20 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.2 TTN LDB3
21 autosomal recessive limb-girdle muscular dystrophy type 2x 10.2 MYOT DYSF
22 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.2 TTN LDB3
23 muscular dystrophy, limb-girdle, autosomal dominant 3 10.2 MYOT DNAJB6
24 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.2 TTN LDB3
25 cardiomyopathy, dilated, 1dd 10.1 TTN LDB3
26 hyaline body myopathy 10.1 TTN MYOT FLNC
27 epithelial basement membrane dystrophy 10.1 SYNC PLEC
28 cardiomyopathy, dilated, 1a 10.1 TTN MYOT BAG3
29 cardiomyopathy, dilated, 1b 10.1 TTN FLNC BAG3
30 foot drop 10.1 TTN MYOT DYSF
31 cardiomyopathy, dilated, 1h 10.0 TTN MYOZ1 BAG3
32 dysferlinopathy 10.0 DYSF CAPN3
33 congenital structural myopathy 10.0 TTN MYPN MYOT FLNC
34 autosomal recessive limb-girdle muscular dystrophy type 2l 10.0 MYOT DYSF CAPN3
35 muscular dystrophy-dystroglycanopathy , type c, 4 10.0 MYOT DYSF CAPN3
36 miyoshi muscular dystrophy 3 10.0 DYSF CAPN3
37 mitochondrial dna depletion syndrome 12b 10.0 TTN MYPN FLNC BAG3
38 myopathy, centronuclear, 1 10.0 MYOT FLNC DYSF DNAJB6
39 white sponge nevus 1 10.0 SYNM SYNC
40 localized lipodystrophy 9.9 DYSF DMD
41 cardioneuromyopathy with hyaline masses and nemaline rods 9.9 TTN DMD
42 arrhythmogenic right ventricular dysplasia, familial, 1 9.9 TTN PLEC
43 reducing body myopathy 9.9 TTN DMD
44 central core disease of muscle 9.9
45 leukemia, acute myeloid 9.9
46 leukemia 9.9
47 nemaline myopathy 9.9
48 central core myopathy 9.9
49 myeloid leukemia 9.9
50 endocardial fibroelastosis 9.9 MYPN LDB3 DMD

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



Diseases related to Myopathy, Myofibrillar, 3

Symptoms & Phenotypes for Myopathy, Myofibrillar, 3

Human phenotypes related to Myopathy, Myofibrillar, 3:

58 31 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 peripheral neuropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0009830
2 hyporeflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001265
3 proximal muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0003701
4 difficulty walking 58 31 hallmark (90%) Very frequent (99-80%) HP:0002355
5 shoulder girdle muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0003547
6 progressive distal muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0009063
7 abnormal muscle fiber myotilin 58 31 hallmark (90%) Very frequent (99-80%) HP:0030226
8 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
9 elevated serum creatine kinase 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0003236
10 emg: myopathic abnormalities 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0003458
11 multiple joint contractures 58 31 frequent (33%) Frequent (79-30%) HP:0002828
12 muscle stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0003552
13 nasal speech 58 31 frequent (33%) Frequent (79-30%) HP:0001611
14 distal muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0002460
15 increased variability in muscle fiber diameter 58 31 frequent (33%) Frequent (79-30%) HP:0003557
16 inability to walk 58 31 frequent (33%) Frequent (79-30%) HP:0002540
17 distal amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003693
18 foot dorsiflexor weakness 58 31 frequent (33%) Frequent (79-30%) HP:0009027
19 difficulty climbing stairs 58 31 frequent (33%) Frequent (79-30%) HP:0003551
20 autophagic vacuoles 58 31 frequent (33%) Frequent (79-30%) HP:0003736
21 limited elbow flexion 58 31 frequent (33%) Frequent (79-30%) HP:0006376
22 fatty replacement of skeletal muscle 58 31 frequent (33%) Frequent (79-30%) HP:0012548
23 hip flexor weakness 58 31 frequent (33%) Frequent (79-30%) HP:0012515
24 difficulty standing 58 31 frequent (33%) Frequent (79-30%) HP:0003698
25 increased endomysial connective tissue 58 31 frequent (33%) Frequent (79-30%) HP:0100297
26 limited knee flexion/extension 58 31 frequent (33%) Frequent (79-30%) HP:0005085
27 loss of ability to walk in first decade 58 31 frequent (33%) Frequent (79-30%) HP:0006794
28 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
29 respiratory failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0002878
30 progressive proximal muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0009073
31 cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001638
32 reduced vital capacity 58 31 occasional (7.5%) Occasional (29-5%) HP:0002792
33 facial hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000297
34 reduced maximal inspiratory pressure 58 31 occasional (7.5%) Occasional (29-5%) HP:0012496
35 respiratory insufficiency 58 Occasional (29-5%)
36 achilles tendon contracture 31 HP:0001771
37 pelvic girdle muscle weakness 58 Very frequent (99-80%)
38 myalgia 31 HP:0003326
39 areflexia 31 HP:0001284
40 polyneuropathy 31 HP:0001271
41 myofibrillar myopathy 31 HP:0003715
42 functional respiratory abnormality 58 Occasional (29-5%)
43 hyporeflexia of lower limbs 31 HP:0002600
44 muscle fiber cytoplasmatic inclusion bodies 31 HP:0100303

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Myopathy, Myofibrillar, 3:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.06 BAG3 DMD DYSF FLNC LDB3 MYOZ1
2 cardiovascular system MP:0005385 10 BAG3 CAPN3 DMD FLNC LDB3 MYPN
3 homeostasis/metabolism MP:0005376 9.93 BAG3 CAPN3 DMD DYSF FLNC LDB3
4 muscle MP:0005369 9.77 BAG3 CAPN3 DMD DYSF FLNC LDB3
5 normal MP:0002873 9.23 CAPN3 DMD INA MYOT MYPN PLEC

Drugs & Therapeutics for Myopathy, Myofibrillar, 3

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

Genetic Tests for Myopathy, Myofibrillar, 3

Genetic tests related to Myopathy, Myofibrillar, 3:

# Genetic test Affiliating Genes
1 Myofibrillar Myopathy 3 29 MYOT

Anatomical Context for Myopathy, Myofibrillar, 3

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

40
Skeletal Muscle, Heart, Myeloid

Publications for Myopathy, Myofibrillar, 3

Articles related to Myopathy, Myofibrillar, 3:

(show all 45)
# Title Authors PMID Year
1
Mutations in myotilin cause myofibrillar myopathy. 61 6 57
15111675 2004
2
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 57 6
30055862 2018
3
A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A). 57 6
21336781 2011
4
myotilin Mutation found in second pedigree with LGMD1A. 57 6
12428213 2002
5
Myotilin is mutated in limb girdle muscular dystrophy 1A. 57 6
10958653 2000
6
Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy. 6 57
3275904 1988
7
Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular Dystrophy. 6 61
27854214 2016
8
New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses. 6 61
26842778 2016
9
In vivo characterization of mutant myotilins. 61 6
22349301 2012
10
Analysis of myotilin turnover provides mechanistic insight into the role of myotilinopathy-causing mutations. 61 6
21361873 2011
11
TAR DNA-Binding protein 43 accumulation in protein aggregate myopathies. 61 6
19225410 2009
12
Myotilinopathy in a family with late onset myopathy. 6 61
16793270 2006
13
Different early pathogenesis in myotilinopathy compared to primary desminopathy. 61 6
16684602 2006
14
Myotilinopathy: refining the clinical and myopathological phenotype. 61 6
15947064 2005
15
Myofibrillar myopathies: State of the art, present and future challenges. 6
26342832 2015
16
Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies. 6
25208129 2014
17
Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy. 6
21676617 2011
18
Lower limb radiology of distal myopathy due to the S60F myotilin mutation. 6
19590214 2009
19
Transgenic mice expressing the myotilin T57I mutation unite the pathology associated with LGMD1A and MFM. 6
16801328 2006
20
A mutation in myotilin causes spheroid body myopathy. 57
16380616 2005
21
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. 57
9828127 1998
22
Evidence for anticipation in autosomal dominant limb-girdle muscular dystrophy. 57
9598725 1998
23
Using neural networks as an aid in the determination of disease status: comparison of clinical diagnosis to neural-network predictions in a pedigree with autosomal dominant limb-girdle muscular dystrophy. 57
9529338 1998
24
Why Goethe rejected Newton's theory of light. 6
9027924 1996
25
Development of a microsatellite genetic map spanning 5q31-q33 and subsequent placement of the LGMD1A locus between D5S178 and IL9. 57
7881291 1994
26
Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q. 57
1598902 1992
27
Hereditary myopathy limited to females. 57
6053567 1967
28
Multisystem Myotilinopathy, including Myopathy and Left Ventricular Noncompaction, due to the MYOT Variant c.179C>T. 61
32509353 2020
29
Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent. 61
33250842 2020
30
Myotilinopathy unmasked by statin treatment: A case report. 61
29350769 2018
31
Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function. 61
28915917 2017
32
New aspects of myofibrillar myopathies. 61
27389816 2016
33
Myofibrillar and distal myopathies. 61
27638134 2016
34
Protein aggregation in congenital myopathies. 61
22172423 2011
35
Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study. 61
19151983 2009
36
Generalized muscle pseudo-hypertrophy and stiffness associated with the myotilin Ser55Phe mutation: a novel myotilinopathy phenotype? 61
19027924 2009
37
Involvement patterns in myotilinopathy and desminopathy detected by a novel neuromuscular whole-body MRI protocol. 61
18648820 2008
38
Distinct muscle imaging patterns in myofibrillar myopathies. 61
18765652 2008
39
Expression of mutant ubiquitin (UBB+1) and p62 in myotilinopathies and desminopathies. 61
17931355 2008
40
Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype. 61
17698502 2008
41
Target genes of neuron-restrictive silencer factor are abnormally up-regulated in human myotilinopathy. 61
17823282 2007
42
Oxidative stress in desminopathies and myotilinopathies: a link between oxidative damage and abnormal protein aggregation. 61
17784878 2007
43
Desmin is oxidized and nitrated in affected muscles in myotilinopathies and desminopathies. 61
17882015 2007
44
Hsp27-2D-gel electrophoresis is a diagnostic tool to differentiate primary desminopathies from myofibrillar myopathies. 61
15978589 2005
45
Congenital myopathies in the new millennium. 61
15794172 2005

Variations for Myopathy, Myofibrillar, 3

ClinVar genetic disease variations for Myopathy, Myofibrillar, 3:

6 (show top 50) (show all 127)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.179C>G (p.Ser60Cys) SNV Pathogenic 5836 rs121908458 GRCh37: 5:137206519-137206519
GRCh38: 5:137870830-137870830
2 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.179C>T (p.Ser60Phe) SNV Pathogenic 5837 rs121908458 GRCh37: 5:137206519-137206519
GRCh38: 5:137870830-137870830
3 PKD2L2-DT , MYOT NM_001135940.2(MYOT):c.-197+410G>T SNV Pathogenic 5838 rs121908460 GRCh37: 5:137206624-137206624
GRCh38: 5:137870935-137870935
4 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.170C>T (p.Thr57Ile) SNV Pathogenic 5834 rs28937597 GRCh37: 5:137206510-137206510
GRCh38: 5:137870821-137870821
5 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.164C>T (p.Ser55Phe) SNV Pathogenic 5835 rs121908457 GRCh37: 5:137206504-137206504
GRCh38: 5:137870815-137870815
6 PKD2L2-DT , MYOT NM_001135940.2(MYOT):c.-197+193C>T SNV Uncertain significance 596221 rs751876756 GRCh37: 5:137206407-137206407
GRCh38: 5:137870718-137870718
7 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.1139T>C (p.Leu380Pro) SNV Uncertain significance 650010 rs902179316 GRCh37: 5:137221851-137221851
GRCh38: 5:137886162-137886162
8 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.1413G>T (p.Leu471Phe) SNV Uncertain significance 283264 rs146426896 GRCh37: 5:137222990-137222990
GRCh38: 5:137887301-137887301
9 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.392C>A (p.Ala131Glu) SNV Uncertain significance 655808 rs982468554 GRCh37: 5:137211553-137211553
GRCh38: 5:137875864-137875864
10 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.1159G>A (p.Glu387Lys) SNV Uncertain significance 657395 rs373489115 GRCh37: 5:137221871-137221871
GRCh38: 5:137886182-137886182
11 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.86C>T (p.Ser29Phe) SNV Uncertain significance 657688 rs1580847200 GRCh37: 5:137206426-137206426
GRCh38: 5:137870737-137870737
12 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.83C>T (p.Thr28Ile) SNV Uncertain significance 657689 rs767662244 GRCh37: 5:137206423-137206423
GRCh38: 5:137870734-137870734
13 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.1195T>C (p.Tyr399His) SNV Uncertain significance 657756 rs147239483 GRCh37: 5:137222557-137222557
GRCh38: 5:137886868-137886868
14 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.650A>G (p.His217Arg) SNV Uncertain significance 662891 rs758565747 GRCh37: 5:137216521-137216521
GRCh38: 5:137880832-137880832
15 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.182A>C (p.His61Pro) SNV Uncertain significance 664775 rs372276337 GRCh37: 5:137206522-137206522
GRCh38: 5:137870833-137870833
16 PKD2L2-DT , MYOT NM_006790.3(MYOT):c.966A>G (p.Ala322=) SNV Uncertain significance 842280 GRCh37: 5:137219222-137219222
GRCh38: 5:137883533-137883533
17 PKD2L2-DT , MYOT NM_006790.3(MYOT):c.1184G>A (p.Arg395Gln) SNV Uncertain significance 842635 GRCh37: 5:137221896-137221896
GRCh38: 5:137886207-137886207
18 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.629C>T (p.Ser210Leu) SNV Uncertain significance 598376 rs756669574 GRCh37: 5:137213306-137213306
GRCh38: 5:137877617-137877617
19 PKD2L2-DT , MYOT NM_006790.3(MYOT):c.1418T>C (p.Val473Ala) SNV Uncertain significance 847336 GRCh37: 5:137222995-137222995
GRCh38: 5:137887306-137887306
20 PKD2L2-DT , MYOT NM_006790.3(MYOT):c.147G>C (p.Glu49Asp) SNV Uncertain significance 852985 GRCh37: 5:137206487-137206487
GRCh38: 5:137870798-137870798
21 PKD2L2-DT , MYOT NM_006790.3(MYOT):c.1471G>A (p.Gly491Arg) SNV Uncertain significance 858164 GRCh37: 5:137223048-137223048
GRCh38: 5:137887359-137887359
22 PKD2L2-DT , MYOT NM_006790.3(MYOT):c.1025-3T>C SNV Uncertain significance 859200 GRCh37: 5:137221734-137221734
GRCh38: 5:137886045-137886045
23 PKD2L2-DT , MYOT NM_006790.3(MYOT):c.686G>A (p.Ser229Asn) SNV Uncertain significance 839777 GRCh37: 5:137217664-137217664
GRCh38: 5:137881975-137881975
24 PKD2L2-DT , MYOT NM_006790.3(MYOT):c.-286C>G SNV Uncertain significance 903840 GRCh37: 5:137203568-137203568
GRCh38: 5:137867879-137867879
25 PKD2L2-DT , MYOT NM_006790.3(MYOT):c.348G>A (p.Met116Ile) SNV Uncertain significance 903901 GRCh37: 5:137206688-137206688
GRCh38: 5:137870999-137870999
26 PKD2L2-DT , MYOT NM_006790.3(MYOT):c.356+13T>G SNV Uncertain significance 903902 GRCh37: 5:137206709-137206709
GRCh38: 5:137871020-137871020
27 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.*418T>C SNV Uncertain significance 351033 rs778508971 GRCh37: 5:137223492-137223492
GRCh38: 5:137887803-137887803
28 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.1222T>C (p.Leu408=) SNV Uncertain significance 351028 rs886059968 GRCh37: 5:137222584-137222584
GRCh38: 5:137886895-137886895
29 PKD2L2-DT , MYOT NM_006790.3(MYOT):c.191T>A (p.Met64Lys) SNV Uncertain significance 906250 GRCh37: 5:137206531-137206531
GRCh38: 5:137870842-137870842
30 PKD2L2-DT , MYOT NM_006790.3(MYOT):c.*311A>T SNV Uncertain significance 907372 GRCh37: 5:137223385-137223385
GRCh38: 5:137887696-137887696
31 PKD2L2-DT , MYOT NM_006790.3(MYOT):c.*372G>A SNV Uncertain significance 907373 GRCh37: 5:137223446-137223446
GRCh38: 5:137887757-137887757
32 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.816+5G>T SNV Uncertain significance 533013 rs750433300 GRCh37: 5:137217799-137217799
GRCh38: 5:137882110-137882110
33 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.1286C>G (p.Ala429Gly) SNV Uncertain significance 288959 rs144731446 GRCh37: 5:137222648-137222648
GRCh38: 5:137886959-137886959
34 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.398C>T (p.Pro133Leu) SNV Uncertain significance 533010 rs779568205 GRCh37: 5:137211559-137211559
GRCh38: 5:137875870-137875870
35 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.937G>A (p.Val313Ile) SNV Uncertain significance 533011 rs760955035 GRCh37: 5:137219193-137219193
GRCh38: 5:137883504-137883504
36 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.257C>A (p.Thr86Lys) SNV Uncertain significance 499699 rs1205992276 GRCh37: 5:137206597-137206597
GRCh38: 5:137870908-137870908
37 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.563G>T (p.Arg188Ile) SNV Uncertain significance 286597 rs370165036 GRCh37: 5:137213240-137213240
GRCh38: 5:137877551-137877551
38 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.653C>A (p.Ala218Glu) SNV Uncertain significance 567277 rs533510304 GRCh37: 5:137216524-137216524
GRCh38: 5:137880835-137880835
39 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.145G>C (p.Glu49Gln) SNV Uncertain significance 571511 rs199760778 GRCh37: 5:137206485-137206485
GRCh38: 5:137870796-137870796
40 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.1364G>C (p.Arg455Pro) SNV Uncertain significance 580973 rs141801816 GRCh37: 5:137222941-137222941
GRCh38: 5:137887252-137887252
41 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.1A>T (p.Met1Leu) SNV Uncertain significance 580989 rs1561657261 GRCh37: 5:137206341-137206341
GRCh38: 5:137870652-137870652
42 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.1364G>A (p.Arg455Gln) SNV Uncertain significance 583005 rs141801816 GRCh37: 5:137222941-137222941
GRCh38: 5:137887252-137887252
43 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.1286C>G (p.Ala429Gly) SNV Uncertain significance 288959 rs144731446 GRCh37: 5:137222648-137222648
GRCh38: 5:137886959-137886959
44 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.1401T>A (p.Asn467Lys) SNV Uncertain significance 351029 rs145427063 GRCh37: 5:137222978-137222978
GRCh38: 5:137887289-137887289
45 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.784G>C (p.Asp262His) SNV Uncertain significance 641132 rs1271782226 GRCh37: 5:137217762-137217762
GRCh38: 5:137882073-137882073
46 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.17G>A (p.Arg6His) SNV Uncertain significance 30407 rs387906882 GRCh37: 5:137206357-137206357
GRCh38: 5:137870668-137870668
47 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.1401T>A (p.Asn467Lys) SNV Uncertain significance 351029 rs145427063 GRCh37: 5:137222978-137222978
GRCh38: 5:137887289-137887289
48 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.391G>T (p.Ala131Ser) SNV Uncertain significance 464372 rs1554102961 GRCh37: 5:137211552-137211552
GRCh38: 5:137875863-137875863
49 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.98G>T (p.Ser33Ile) SNV Uncertain significance 464376 rs1554102559 GRCh37: 5:137206438-137206438
GRCh38: 5:137870749-137870749
50 PKD2L2-DT , MYOT NM_001135940.2(MYOT):c.-181del Deletion Uncertain significance 464370 rs781353247 GRCh37: 5:137211533-137211533
GRCh38: 5:137875844-137875844

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

72
# 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

Expression for Myopathy, Myofibrillar, 3

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

Pathways for Myopathy, Myofibrillar, 3

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.17 SYNM PLEC INA
2 10.66 TTN TCAP DMD

GO Terms for Myopathy, Myofibrillar, 3

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.18 TTN TCAP SYNM SYNC PLEC MYPN
2 cytoskeleton GO:0005856 9.97 SYNM PLEC MYOT LDB3 FLNC DMD
3 perinuclear region of cytoplasm GO:0048471 9.85 SYNC PLEC LDB3 DNAJB6 DMD
4 intermediate filament GO:0005882 9.62 SYNM SYNC PLEC INA
5 sarcolemma GO:0042383 9.5 SYNM SYNC PLEC MYOT FLNC DYSF
6 pseudopodium GO:0031143 9.48 MYOZ1 LDB3
7 costamere GO:0043034 9.46 SYNM PLEC FLNC DMD
8 sarcoplasm GO:0016528 9.43 PLEC FLNC
9 I band GO:0031674 9.43 TTN TCAP MYPN
10 neurofilament GO:0005883 9.4 INA DMD
11 Z disc GO:0030018 9.4 TTN TCAP SYNC MYPN MYOZ1 MYOT

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.74 TTN MYOT DYSF
2 response to muscle stretch GO:0035994 9.58 TCAP DMD
3 cardiac muscle contraction GO:0060048 9.58 TTN TCAP DMD
4 muscle fiber development GO:0048747 9.56 FLNC DMD
5 myofibril assembly GO:0030239 9.55 MYOZ1 CAPN3
6 cardiac muscle tissue morphogenesis GO:0055008 9.54 TTN TCAP
7 muscle filament sliding GO:0030049 9.54 TTN TCAP DMD
8 cardiac myofibril assembly GO:0055003 9.52 TTN TCAP
9 cardiac muscle hypertrophy GO:0003300 9.51 TTN TCAP
10 muscle structure development GO:0061061 9.49 LDB3 CAPN3
11 cardiac muscle fiber development GO:0048739 9.48 TTN TCAP
12 detection of muscle stretch GO:0035995 9.46 TTN TCAP
13 skeletal muscle thin filament assembly GO:0030240 9.43 TTN TCAP
14 intermediate filament cytoskeleton organization GO:0045104 9.33 SYNM PLEC INA
15 sarcomerogenesis GO:0048769 9.32 TTN TCAP
16 skeletal muscle myosin thick filament assembly GO:0030241 9.26 TTN TCAP
17 muscle cell cellular homeostasis GO:0046716 9.13 DMD CAPN3 BAG3
18 sarcomere organization GO:0045214 9.1 TTN TCAP MYPN MYOZ1 LDB3 CAPN3

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.36 TTN TCAP SYNM SYNC PLEC MYPN
2 structural constituent of cytoskeleton GO:0005200 9.62 SYNM PLEC INA DMD
3 actin binding GO:0003779 9.5 PLEC MYPN MYOZ1 MYOT LDB3 FLNC
4 ankyrin binding GO:0030506 9.49 PLEC FLNC
5 titin binding GO:0031432 9.48 TCAP CAPN3
6 cytoskeletal protein binding GO:0008092 9.46 PLEC MYPN LDB3 FLNC
7 vinculin binding GO:0017166 9.43 SYNM DMD
8 muscle alpha-actinin binding GO:0051371 9.43 TTN MYPN LDB3
9 telethonin binding GO:0031433 9.4 TTN MYOZ1
10 FATZ binding GO:0051373 9.37 TCAP MYOZ1
11 structural constituent of muscle GO:0008307 9.17 TTN TCAP SYNM PLEC MYOT DMD

Sources for Myopathy, Myofibrillar, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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