Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect
Release Notes Disease Lists/Categories
About
About MalaCards Datasets Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
MFM3
MCID: MYP078
MIFTS: 54

Myopathy, Myofibrillar, 3 (MFM3)

Categories: Bone diseases, Cancer diseases, Cardiovascular diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases, Smell/Taste diseases
Data Licensing
For inquiries, contact:
[email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
Sources

Aliases & Classifications for Myopathy, Myofibrillar, 3

About this section

MalaCards integrated aliases for Myopathy, Myofibrillar, 3:

Name: Myopathy, Myofibrillar, 3 57 73 71
Myotilinopathy 57 11 58 73 12 71
Myofibrillar Myopathy 3 11 28 5 14
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a 11 58
Muscular Dystrophy, Limb-Girdle, Type 1a 73 71
Lgmd1a 58 73
Mfm3 57 73
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 73
Myopathy Myofibrillar Myotylin-Related 73
Limb-Girdle Muscular Dystrophy 1a 73
Myopathy, Myofibrillar, Type 3 38
Distal Myotilinopathy 58
Mfm Myotilin-Related 73
Lgmd1a, Formerly 57
Lgmd1, Formerly 57
Lgmd1 73

Characteristics:


Inheritance:

Myopathy, Myofibrillar, 3: Autosomal dominant 57
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a: Autosomal dominant 58

Prevelance:

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a: <1/1000000 (Worldwide) 58

Age Of Onset:

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a: Adult,Elderly 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
slowly progressive disorder
adult onset (mean 60 years)
limb-girdle muscular dystrophy 1a (lgmd1a, ) is an allelic disorder with overlapping clinical features


HPO:

30
myopathy, myofibrillar, 3:
Onset and clinical course slowly progressive


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Neuronal diseases Muscle diseases Respiratory diseases Bone diseases Cardiovascular diseases Smell/Taste diseases Oral diseases
See all MalaCards categories (disease lists)
ICD10: 31 32
Orphanet: 58  
Rare neurological diseases


Sources

Summaries for Myopathy, Myofibrillar, 3

About this section

UniProtKB/Swiss-Prot: 73 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 nonaka myopathy. An important gene associated with Myopathy, Myofibrillar, 3 is MYOT (Myotilin), and among its related pathways/superpathways are Cardiac conduction and Striated muscle contraction pathway. Affiliated tissues include skeletal muscle, heart and myeloid, and related phenotypes are peripheral neuropathy and hyporeflexia

Orphanet 58 Autosomal dominant limb-girdle muscular dystrophy type 1a: A rare subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed.

Distal myotilinopathy: A rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years.

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 08-Dec-2022)

Disease Ontology: 11 A myofibrillar myopathy that has material basis in heterozygous mutation in the TTID gene on chromosome 5q31.
Sources

Related Diseases for Myopathy, Myofibrillar, 3

About this section

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 134)
# Related Disease Score Top Affiliating Genes
1 limb-girdle muscular dystrophy type 1a 30.0 TTN TCAP PKD2L2-DT MYOT FLNC DYSF
2 nonaka myopathy 29.8 MYOT LDB3 DYSF DNAJB6 CAPN3
3 miyoshi muscular dystrophy 29.4 TTN TCAP MYOT HSPB8 FLNC DYSF
4 centronuclear myopathy 29.4 TTN NEB MYOT DYSF DMD CAPN3
5 autosomal dominant limb-girdle muscular dystrophy 29.3 TTN TCAP MYOT FLNC DYSF DNAJB6
6 myopathy, myofibrillar, 2 29.0 TTN SYNC PLEC MYOT LDB3 HSPB8
7 limb-girdle muscular dystrophy 29.0 TTN TCAP PLEC NEB MYOT LDB3
8 myofibrillar myopathy 28.9 TTN TCAP SYNM SYNC PLEC PKD2L2-DT
9 left ventricular noncompaction 28.6 TTN TCAP PLEC NEB MYPN MYOZ1
10 muscular dystrophy 28.6 TTN TCAP SYNC PLEC NEB MYOT
11 myopathy, spheroid body 28.5 TTN TCAP PKD2L2-DT PALLD NEB MYPN
12 neuromuscular disease 28.4 TTN TCAP SYNC PLEC NEB MYOT
13 myopathy 28.0 TTN TCAP SYNM SYNC PLEC NEB
14 myopathy, myofibrillar, 1 28.0 TTN SYNM SYNC PLEC NEB MYPN
15 familial isolated restrictive cardiomyopathy 10.3 MYPN FLNC
16 scapuloperoneal syndrome, neurogenic, kaeser type 10.3 MYOT LDB3
17 muscular dystrophy, limb-girdle, type 1h 10.3 MYOT DNAJB6
18 cardiomyopathy, familial restrictive, 2 10.3 MYPN FLNC
19 fatal infantile hypertonic myofibrillar myopathy 10.3 MYOT DNAJB6
20 nemaline myopathy 11, autosomal recessive 10.3 MYPN MYOT
21 dysferlinopathy 10.2 DYSF CAPN3
22 muscular dystrophy, limb-girdle, autosomal dominant 3 10.2 MYOT DNAJB6
23 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.2 TTN LDB3
24 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.2 TTN LDB3
25 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.2 TTN LDB3
26 cylindrical spirals myopathy 10.2 TCAP DMD
27 childhood-onset nemaline myopathy 10.2 NEB MYPN
28 first-degree atrioventricular block 10.2 TTN MYPN
29 neuronopathy, distal hereditary motor, type iia 10.2 HSPB8 DNAJB6
30 cardiomyopathy, dilated, 1dd 10.2 TTN LDB3
31 cardiomyopathy, dilated, 1b 10.2 TTN FLNC BAG3
32 inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 2 10.2 MYOT LDB3 FLNC BAG3
33 autosomal recessive limb-girdle muscular dystrophy type 2l 10.2 MYOT DYSF CAPN3
34 muscular dystrophy-dystroglycanopathy , type c, 4 10.2 MYOT DYSF CAPN3
35 myopathy, myofibrillar, 6 10.2 HSPB8 BAG3
36 myopathy, distal, 4 10.2 FLNC DYSF CAPN3
37 postural orthostatic tachycardia syndrome 10.2 MYOZ1 FLNC
38 cardiac sarcoidosis 10.2 TTN FLNC
39 endocardial fibroelastosis 10.1 NEB MYPN LDB3
40 nemaline myopathy 8 10.1 NEB MYPN
41 cardiomyopathy, dilated, 3b 10.1 MYOZ1 DYSF DMD
42 mitochondrial dna depletion syndrome 12b 10.1 TTN MYPN FLNC BAG3
43 familial woolly hair syndrome 10.1 TTN PLEC FLNC
44 creatine phosphokinase, elevated serum 10.1 TCAP DMD CAPN3
45 multiminicore disease 10.1 TTN NEB MYOT
46 myopathy with extrapyramidal signs 10.1 DYSF DMD CAPN3
47 autosomal recessive limb-girdle muscular dystrophy type 2h 10.1 TCAP MYOT DYSF CAPN3
48 muscular dystrophy, congenital merosin-deficient, 1a 10.1 DYSF DMD CAPN3
49 myopathy, centronuclear, 1 10.1 TTN MYOT FLNC DYSF
50 emery-dreifuss muscular dystrophy 2, autosomal dominant 10.1 DYSF DMD CAPN3

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



Diseases related to Myopathy, Myofibrillar, 3
Sources

Symptoms & Phenotypes for Myopathy, Myofibrillar, 3

About this section

Human phenotypes related to Myopathy, Myofibrillar, 3:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.13 BAG3 CAPN3 DMD DNAJB6 DYSF FLNC
2 no effect GR00402-S-2 10.13 BAG3 CAPN3 DNAJB6 DYSF FLNC HSPB8

MGI Mouse Phenotypes related to Myopathy, Myofibrillar, 3:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 10.13 BAG3 CAPN3 DMD DYSF FLNC HSPB8
2 homeostasis/metabolism MP:0005376 10 BAG3 CAPN3 DMD DYSF FLNC HSPB8
3 normal MP:0002873 9.92 CAPN3 DMD INA MYOT MYPN PLEC
4 cardiovascular system MP:0005385 9.73 BAG3 CAPN3 DMD FLNC HSPB8 LDB3
5 behavior/neurological MP:0005386 9.44 BAG3 DMD DYSF FLNC HSPB8 LDB3
Sources

Drugs & Therapeutics for Myopathy, Myofibrillar, 3

About this section

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

Sources

Genetic Tests for Myopathy, Myofibrillar, 3

About this section

Genetic tests related to Myopathy, Myofibrillar, 3:

# Genetic test Affiliating Genes
1 Myofibrillar Myopathy 3 28 MYOT
Sources

Anatomical Context for Myopathy, Myofibrillar, 3

About this section

Organs/tissues related to Myopathy, Myofibrillar, 3:

MalaCards : Skeletal Muscle, Heart, Myeloid, Bone
ODiseA: Skeletal Muscle, Heart
Sources

Publications for Myopathy, Myofibrillar, 3

About this section

Articles related to Myopathy, Myofibrillar, 3:

(show top 50) (show all 89)
# Title Authors PMID Year
1
A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A). 62 57 5
21336781 2011
2
Mutations in myotilin cause myofibrillar myopathy. 62 57 5
15111675 2004
3
myotilin Mutation found in second pedigree with LGMD1A. 62 57 5
12428213 2002
4
Myotilin is mutated in limb girdle muscular dystrophy 1A. 62 57 5
10958653 2000
5
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 57 5
30055862 2018
6
Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy. 57 5
3275904 1988
7
Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular Dystrophy. 62 5
27854214 2016
8
New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses. 62 5
26842778 2016
9
In vivo characterization of mutant myotilins. 62 5
22349301 2012
10
Analysis of myotilin turnover provides mechanistic insight into the role of myotilinopathy-causing mutations. 62 5
21361873 2011
11
TAR DNA-Binding protein 43 accumulation in protein aggregate myopathies. 62 5
19225410 2009
12
Transgenic mice expressing the myotilin T57I mutation unite the pathology associated with LGMD1A and MFM. 62 5
16801328 2006
13
Myotilinopathy in a family with late onset myopathy. 62 5
16793270 2006
14
Different early pathogenesis in myotilinopathy compared to primary desminopathy. 62 5
16684602 2006
15
A mutation in myotilin causes spheroid body myopathy. 62 57
16380616 2005
16
Myotilinopathy: refining the clinical and myopathological phenotype. 62 5
15947064 2005
17
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. 62 57
9828127 1998
18
Evidence for anticipation in autosomal dominant limb-girdle muscular dystrophy. 62 57
9598725 1998
19
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. 62 57
9529338 1998
20
Development of a microsatellite genetic map spanning 5q31-q33 and subsequent placement of the LGMD1A locus between D5S178 and IL9. 62 57
7881291 1994
21
Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies. 5
25208129 2014
22
Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy. 5
21676617 2011
23
Lower limb radiology of distal myopathy due to the S60F myotilin mutation. 5
19590214 2009
24
Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q. 57
1598902 1992
25
Hereditary myopathy limited to females. 57
6053567 1967
26
A Robust Visual System for Looming Cue Detection Against Translating Motion. 62
35188895 2022
27
The complex synaptic pathways onto a looming-detector neuron revealed using serial block-face scanning electron microscopy. 62
34338325 2022
28
Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent. 62
33250842 2020
29
Multisystem Myotilinopathy, including Myopathy and Left Ventricular Noncompaction, due to the MYOT Variant c.179C>T. 62
32509353 2020
30
Shaping the collision selectivity in a looming sensitive neuron model with parallel ON and OFF pathways and spike frequency adaptation. 62
30059829 2018
31
Untangling the complexity of limb-girdle muscular dystrophies. 62
29350766 2018
32
Making sense of the clinical spectrum of limb girdle muscular dystrophies. 62
29472383 2018
33
Myotilinopathy unmasked by statin treatment: A case report. 62
29350769 2018
34
Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function. 62
28915917 2017
35
New aspects of myofibrillar myopathies. 62
27389816 2016
36
Myofibrillar and distal myopathies. 62
27638134 2016
37
Rare disease clinical trials: Power in numbers. 62
27540592 2016
38
A novel mutation in DNAJB6, p.(Phe91Leu), in childhood-onset LGMD1D with a severe phenotype. 62
26371419 2015
39
A look into the cockpit of the developing locust: looming detectors and predator avoidance. 62
24753464 2014
40
A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). 62
24647604 2014
41
Genetic basis of limb-girdle muscular dystrophies: the 2014 update. 62
24843229 2014
42
RNAi-mediated Gene Silencing of Mutant Myotilin Improves Myopathy in LGMD1A Mice. 62
24781192 2014
43
Clinical phenotype, muscle MRI and muscle pathology of LGMD1F. 62
23632945 2013
44
Progressive muscular dystrophies. 62
23622359 2013
45
Protein aggregation in congenital myopathies. 62
22172423 2011
46
Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locus. 62
21376592 2011
47
Late-onset autosomal dominant limb girdle muscular dystrophy and Paget's disease of bone unlinked to the VCP gene locus. 62
20116073 2010
48
Defective myotilin homodimerization caused by a novel mutation in MYOT exon 9 in the first Japanese limb girdle muscular dystrophy 1A patient. 62
19458539 2009
49
Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study. 62
19151983 2009
50
Generalized muscle pseudo-hypertrophy and stiffness associated with the myotilin Ser55Phe mutation: a novel myotilinopathy phenotype? 62
19027924 2009
Sources

Variations for Myopathy, Myofibrillar, 3

About this section

ClinVar genetic disease variations for Myopathy, Myofibrillar, 3:

5 (show top 50) (show all 205)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.284G>T (p.Ser95Ile) SNV Pathogenic
 5838 rs121908460 GRCh37: 5:137206624-137206624
GRCh38: 5:137870935-137870935
2 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.179C>G (p.Ser60Cys) SNV Pathogenic
 5836 rs121908458 GRCh37: 5:137206519-137206519
GRCh38: 5:137870830-137870830
3 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.170C>T (p.Thr57Ile) SNV Pathogenic
 5834 rs28937597 GRCh37: 5:137206510-137206510
GRCh38: 5:137870821-137870821
4 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.179C>T (p.Ser60Phe) SNV Pathogenic
 5837 rs121908458 GRCh37: 5:137206519-137206519
GRCh38: 5:137870830-137870830
5 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.164C>T (p.Ser55Phe) SNV Pathogenic/Likely Pathogenic
 5835 rs121908457 GRCh37: 5:137206504-137206504
GRCh38: 5:137870815-137870815
6 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.859G>A (p.Gly287Arg) SNV Uncertain Significance
 809804 rs374221793 GRCh37: 5:137219115-137219115
GRCh38: 5:137883426-137883426
7 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.815A>C (p.Lys272Thr) SNV Uncertain Significance
 1720359 GRCh37: 5:137217793-137217793
GRCh38: 5:137882104-137882104
8 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.1454G>T (p.Arg485Leu) SNV Uncertain Significance
 1715301 GRCh37: 5:137223031-137223031
GRCh38: 5:137887342-137887342
9 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.725C>T (p.Ala242Val) SNV Uncertain Significance
 1719739 GRCh37: 5:137217703-137217703
GRCh38: 5:137882014-137882014
10 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.1401T>A (p.Asn467Lys) SNV Uncertain Significance
Uncertain Significance
 351029 rs145427063 GRCh37: 5:137222978-137222978
GRCh38: 5:137887289-137887289
11 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.686G>A (p.Ser229Asn) SNV Uncertain Significance
 839777 rs193920888 GRCh37: 5:137217664-137217664
GRCh38: 5:137881975-137881975
12 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.17G>A (p.Arg6His) SNV Uncertain Significance
 30407 rs387906882 GRCh37: 5:137206357-137206357
GRCh38: 5:137870668-137870668
13 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.1345C>G (p.Pro449Ala) SNV Uncertain Significance
 464366 rs766650528 GRCh37: 5:137222922-137222922
GRCh38: 5:137887233-137887233
14 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.1286C>G (p.Ala429Gly) SNV Uncertain Significance
Uncertain Significance
 288959 rs144731446 GRCh37: 5:137222648-137222648
GRCh38: 5:137886959-137886959
15 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.1413G>T (p.Leu471Phe) SNV Uncertain Significance
 283264 rs146426896 GRCh37: 5:137222990-137222990
GRCh38: 5:137887301-137887301
16 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.1159G>A (p.Glu387Lys) SNV Uncertain Significance
 657395 rs373489115 GRCh37: 5:137221871-137221871
GRCh38: 5:137886182-137886182
17 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.182A>C (p.His61Pro) SNV Uncertain Significance
 664775 rs372276337 GRCh37: 5:137206522-137206522
GRCh38: 5:137870833-137870833
18 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.701G>A (p.Arg234Lys) SNV Uncertain Significance
 853618 rs1755447825 GRCh37: 5:137217679-137217679
GRCh38: 5:137881990-137881990
19 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.642C>A (p.Asn214Lys) SNV Uncertain Significance
 1020719 rs957169726 GRCh37: 5:137216513-137216513
GRCh38: 5:137880824-137880824
20 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.122T>C (p.Ile41Thr) SNV Uncertain Significance
 129682 rs587780396 GRCh37: 5:137206462-137206462
GRCh38: 5:137870773-137870773
21 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.98G>T (p.Ser33Ile) SNV Uncertain Significance
 464376 rs1554102559 GRCh37: 5:137206438-137206438
GRCh38: 5:137870749-137870749
22 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.391G>T (p.Ala131Ser) SNV Uncertain Significance
 464372 rs1554102961 GRCh37: 5:137211552-137211552
GRCh38: 5:137875863-137875863
23 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.653C>A (p.Ala218Glu) SNV Uncertain Significance
 567277 rs533510304 GRCh37: 5:137216524-137216524
GRCh38: 5:137880835-137880835
24 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.145G>C (p.Glu49Gln) SNV Uncertain Significance
 571511 rs199760778 GRCh37: 5:137206485-137206485
GRCh38: 5:137870796-137870796
25 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.1364G>C (p.Arg455Pro) SNV Uncertain Significance
 580973 rs141801816 GRCh37: 5:137222941-137222941
GRCh38: 5:137887252-137887252
26 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.1A>T (p.Met1Leu) SNV Uncertain Significance
 580989 rs1561657261 GRCh37: 5:137206341-137206341
GRCh38: 5:137870652-137870652
27 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.1364G>A (p.Arg455Gln) SNV Uncertain Significance
 583005 rs141801816 GRCh37: 5:137222941-137222941
GRCh38: 5:137887252-137887252
28 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.784G>C (p.Asp262His) SNV Uncertain Significance
 641132 rs1271782226 GRCh37: 5:137217762-137217762
GRCh38: 5:137882073-137882073
29 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.67C>T (p.Pro23Ser) SNV Uncertain Significance
 596221 rs751876756 GRCh37: 5:137206407-137206407
GRCh38: 5:137870718-137870718
30 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.1139T>C (p.Leu380Pro) SNV Uncertain Significance
 650010 rs902179316 GRCh37: 5:137221851-137221851
GRCh38: 5:137886162-137886162
31 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.392C>A (p.Ala131Glu) SNV Uncertain Significance
 655808 rs982468554 GRCh37: 5:137211553-137211553
GRCh38: 5:137875864-137875864
32 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.86C>T (p.Ser29Phe) SNV Uncertain Significance
 657688 rs1580847200 GRCh37: 5:137206426-137206426
GRCh38: 5:137870737-137870737
33 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.83C>T (p.Thr28Ile) SNV Uncertain Significance
 657689 rs767662244 GRCh37: 5:137206423-137206423
GRCh38: 5:137870734-137870734
34 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.1195T>C (p.Tyr399His) SNV Uncertain Significance
 657756 rs147239483 GRCh37: 5:137222557-137222557
GRCh38: 5:137886868-137886868
35 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.650A>G (p.His217Arg) SNV Uncertain Significance
 662891 rs758565747 GRCh37: 5:137216521-137216521
GRCh38: 5:137880832-137880832
36 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.372del (p.Ala125fs) DEL Uncertain Significance
 464370 rs781353247 GRCh37: 5:137211533-137211533
GRCh38: 5:137875844-137875844
37 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.-286C>G SNV Uncertain Significance
 903840 rs1281967239 GRCh37: 5:137203568-137203568
GRCh38: 5:137867879-137867879
38 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.348G>A (p.Met116Ile) SNV Uncertain Significance
 903901 rs1295803826 GRCh37: 5:137206688-137206688
GRCh38: 5:137870999-137870999
39 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.356+13T>G SNV Uncertain Significance
 903902 rs1461754985 GRCh37: 5:137206709-137206709
GRCh38: 5:137871020-137871020
40 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.*418T>C SNV Uncertain Significance
 351033 rs778508971 GRCh37: 5:137223492-137223492
GRCh38: 5:137887803-137887803
41 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.758T>C (p.Ile253Thr) SNV Uncertain Significance
 432877 rs201113539 GRCh37: 5:137217736-137217736
GRCh38: 5:137882047-137882047
42 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.655C>T (p.Arg219Ter) SNV Uncertain Significance
 1018279 rs781249546 GRCh37: 5:137216526-137216526
GRCh38: 5:137880837-137880837
43 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.998C>T (p.Thr333Ile) SNV Uncertain Significance
 521779 rs758194318 GRCh37: 5:137219254-137219254
GRCh38: 5:137883565-137883565
44 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.298A>G (p.Ile100Val) SNV Uncertain Significance
 1163258 GRCh37: 5:137206638-137206638
GRCh38: 5:137870949-137870949
45 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.593T>C (p.Val198Ala) SNV Uncertain Significance
 1379723 GRCh37: 5:137213270-137213270
GRCh38: 5:137877581-137877581
46 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.552G>C (p.Lys184Asn) SNV Uncertain Significance
 1382936 GRCh37: 5:137213229-137213229
GRCh38: 5:137877540-137877540
47 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.982A>G (p.Arg328Gly) SNV Uncertain Significance
 1402692 GRCh37: 5:137219238-137219238
GRCh38: 5:137883549-137883549
48 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.50G>A (p.Cys17Tyr) SNV Uncertain Significance
 1391939 GRCh37: 5:137206390-137206390
GRCh38: 5:137870701-137870701
49 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.1253C>T (p.Ala418Val) SNV Uncertain Significance
 1468116 GRCh37: 5:137222615-137222615
GRCh38: 5:137886926-137886926
50 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.1132C>G (p.Pro378Ala) SNV Uncertain Significance
 1464480 GRCh37: 5:137221844-137221844
GRCh38: 5:137886155-137886155

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

73
# 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

Sources

Expression for Myopathy, Myofibrillar, 3

About this section
Search GEO for disease gene expression data for Myopathy, Myofibrillar, 3.
Sources

Pathways for Myopathy, Myofibrillar, 3

About this section

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

# Super pathways Score Top Affiliating Genes
1
Cardiac conduction 66
Show member pathways
 12.09 TTN TCAP NEB DYSF DMD
2
Striated muscle contraction pathway 74
Show member pathways
 10.79 TTN TCAP NEB DMD
Sources

GO Terms for Myopathy, Myofibrillar, 3

About this section

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.6 BAG3 CAPN3 DMD DNAJB6 FLNC HSPB8
2 axon GO:0030424 10.2 PLEC PALLD MYPN MYOT DMD
3 cytoskeleton GO:0005856 10.17 SYNM PLEC PALLD NEB MYOT LDB3
4 intermediate filament GO:0005882 10.08 INA PLEC SYNC SYNM
5 actin cytoskeleton GO:0015629 10.02 DMD MYOT MYOZ1 NEB PALLD
6 stress fiber GO:0001725 10.01 PALLD LDB3 BAG3
7 I band GO:0031674 9.8 TTN TCAP MYPN
8 sarcolemma GO:0042383 9.8 DMD DYSF FLNC MYOT PLEC SYNC
9 Z disc GO:0030018 9.8 TTN TCAP SYNC PLEC PALLD NEB
10 costamere GO:0043034 9.76 SYNM PLEC FLNC DMD
11 myofibril GO:0030016 9.71 PLEC DMD CAPN3
12 neurofilament GO:0005883 9.67 INA DMD
13 sarcomere GO:0030017 9.63 TCAP NEB MYPN
14 titin-telethonin complex GO:1990733 9.56 TTN TCAP
15 contractile fiber GO:0043292 9.51 PLEC NEB

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 intermediate filament organization GO:0045109 10.01 PLEC INA DNAJB6
2 cardiac muscle contraction GO:0060048 9.93 TTN TCAP DMD
3 skeletal muscle tissue development GO:0007519 9.91 PLEC MYOZ1 DMD
4 cardiac muscle tissue morphogenesis GO:0055008 9.88 TTN TCAP
5 cardiac myofibril assembly GO:0055003 9.87 TTN TCAP
6 cardiac muscle hypertrophy GO:0003300 9.86 TTN TCAP
7 muscle structure development GO:0061061 9.85 LDB3 CAPN3
8 keratinocyte development GO:0003334 9.83 PALLD PLEC
9 detection of muscle stretch GO:0035995 9.8 TTN TCAP
10 muscle cell cellular homeostasis GO:0046716 9.8 DMD CAPN3 BAG3
11 skeletal muscle thin filament assembly GO:0030240 9.78 TTN TCAP
12 skeletal muscle myosin thick filament assembly GO:0030241 9.73 TCAP TTN
13 sarcomerogenesis GO:0048769 9.71 TCAP TTN
14 positive regulation of aggrephagy GO:1905337 9.67 BAG3 HSPB8
15 intermediate filament cytoskeleton organization GO:0045104 9.65 SYNM PLEC INA
16 actin cytoskeleton organization GO:0030036 9.65 DMD DNAJB6 FLNC LDB3 PALLD PLEC
17 cardiac muscle cell development GO:0055013 9.63 TTN TCAP PLEC
18 sarcomere organization GO:0045214 9.53 TTN TCAP PLEC MYPN MYOZ1 LDB3

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 10.02 TTN PLEC NEB FLNC DMD
2 structural constituent of cytoskeleton GO:0005200 9.97 DMD INA PLEC SYNM
3 actin binding GO:0003779 9.83 DMD FLNC LDB3 MYOT MYOZ1 MYPN
4 titin binding GO:0031432 9.8 TCAP CAPN3
5 cytoskeletal protein binding GO:0008092 9.8 FLNC LDB3 MYPN PLEC
6 vinculin binding GO:0017166 9.78 SYNM DMD
7 dystroglycan binding GO:0002162 9.76 PLEC DMD
8 muscle alpha-actinin binding GO:0051371 9.76 TTN PALLD MYPN LDB3
9 telethonin binding GO:0031433 9.73 TTN MYOZ1
10 FATZ binding GO:0051373 9.71 TCAP MYOZ1
11 structural constituent of muscle GO:0008307 9.53 TTN TCAP SYNM PLEC NEB MYOT
Sources

Sources for Myopathy, Myofibrillar, 3

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 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
Content
Loading form....