MFM1
MCID: MYP072
MIFTS: 57

Myopathy, Myofibrillar, 1 (MFM1)

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Aliases & Classifications for Myopathy, Myofibrillar, 1

MalaCards integrated aliases for Myopathy, Myofibrillar, 1:

Name: Myopathy, Myofibrillar, 1 57 73
Desmin-Related Myofibrillar Myopathy 58 75 28 5
Desmin-Related Myopathy 57 73 53
Desmin-Related Myopathy with Arrhythmogenic Right Ventricular Cardiomyopathy 57 73
Myofibrillar Myopathy with Arrhythmogenic Right Ventricular Cardiomyopathy 57 73
Arrhythmogenic Right Ventricular Dysplasia, Familial, 7 28 71
Muscular Dystrophy, Limb-Girdle, Type 2r 73 71
Myopathy, Myofibrillar, Desmin-Related 57 71
Myofibrillar Myopathy 1 11 14
Desminopathy 11 58
Mfm1 57 73
Drm 57 73
Cardiomyopathy, Dilated, 1f and Limb-Girdle Muscular Dystrophy Type 1d, Formerly 57
Cardiomyopathy, Dilated, with Conduction Defect and Muscular Dystrophy 57
Dilated Cardiomyopathy 1f and Limb-Girdle Muscular Dystrophy Type 1d 73
Dilated Cardiomyopathy with Conduction Defect and Muscular Dystrophy 73
Arrhythmogenic Right Ventricular Dysplasia, Familial, 7, Formerly 57
Arrhythmogenic Right Ventricular Cardiomyopathy 7, Formerly 57
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r 11
Inclusion Body Myopathy 1, Autosomal Dominant, Formerly 57
Familial Arrhythmogenic Right Ventricular Dysplasia 7 73
Muscular Dystrophy, Limb-Girdle, Type 2r, Formerly 57
Arrhythmogenic Right Ventricular Cardiomyopathy 7 73
Autosomal Dominant Inclusion Body Myopathy 1 73
Dystrophy, Muscular, Limb-Girdle, Type 2r 38
Myopathy Myofibrillar Desmin-Related 73
Limb-Girdle Muscular Dystrophy 2r 73
Cmd1f and Lgmd1d, Formerly 57
Desminopathy, Primary 57
Desminopathy Primary 73
Mfm Desmin-Related 73
Lgmd2r, Formerly 57
Cmd1f and Lgmd1d 73
Arvd7, Formerly 57
Arvc7, Formerly 57
Cdcd3, Formerly 57
Ibm1, Formerly 57
Lgmd2r 73
Arvc7 73
Arvd7 73
Cdcd3 73

Characteristics:


Inheritance:

Autosomal dominant 57

Age Of Onset:

Desminopathy: Adolescent,Adult,Childhood,Infancy 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
variable phenotype
onset usually in second or third decades
autosomal dominant and autosomal recessive forms


HPO:

30
myopathy, myofibrillar, 1:
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 11 DOID:0080092
OMIM® 57 601419
OMIM Phenotypic Series 57 PS601419
MeSH 43 D020914
ICD10 31 G71.0
ICD10 via Orphanet 32 G71.8
UMLS via Orphanet 72 C1832370
Orphanet 58 ORPHA98909
MedGen 40 C1832370
UMLS 71 C1832370 C1836704 C3809137

Summaries for Myopathy, Myofibrillar, 1

Orphanet: 58 A rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hypoventilation with oxygen desaturation and progressing to daytime respiratory failure.

MalaCards based summary: Myopathy, Myofibrillar, 1, also known as desmin-related myofibrillar myopathy, is related to myopathy, myofibrillar, 6 and rigid spine muscular dystrophy 1, and has symptoms including facial paresis An important gene associated with Myopathy, Myofibrillar, 1 is DES (Desmin), and among its related pathways/superpathways are Cardiac conduction and Striated muscle contraction pathway. Affiliated tissues include skeletal muscle, heart and smooth muscle, and related phenotypes are distal lower limb muscle weakness and axial muscle weakness

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. MFM1 is characterized by skeletal muscle weakness associated with cardiac conduction blocks, arrhythmias, restrictive heart failure, and accumulation of desmin- reactive deposits in cardiac and skeletal muscle cells.

OMIM®: 57 Myofibrillar myopathy (MFM) is a noncommittal term that refers to a group of morphologically homogeneous, but genetically heterogeneous chronic neuromuscular disorders. The morphologic changes in skeletal muscle in MFM result from disintegration of the sarcomeric Z disc and the myofibrils, followed by abnormal ectopic accumulation of multiple proteins involved in the structure of the Z disc, including desmin, alpha-B-crystallin (CRYAB; 123590), dystrophin (300377), and myotilin (TTID; 604103). (601419) (Updated 08-Dec-2022)

Disease Ontology: 11 A myofibrillar myopathy that has material basis in heterozygous, homozygous, or compound heterozygous mutation in the desmin gene on chromosome 2q35.

Wikipedia: 75 Desmin-related myofibrillar myopathy, is a subgroup of the myofibrillar myopathy diseases and is the... more...

Related Diseases for Myopathy, Myofibrillar, 1

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, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 171)
# Related Disease Score Top Affiliating Genes
1 myopathy, myofibrillar, 6 31.6 DCAF8 CRYAB BAG3
2 rigid spine muscular dystrophy 1 30.9 TTN SELENON NEB MYOT LDB3 FLNC
3 cardiomyopathy, dilated, 1h 30.7 TTN DES BAG3
4 arrhythmogenic right ventricular cardiomyopathy 30.6 TTN LDB3 FLNC DMD DES
5 myopathy, myofibrillar, 2 30.2 TTN SYNC PLEC MYOT LDB3 FLNC
6 atrial standstill 1 30.1 MYOT DMD DES
7 myopathy, myofibrillar, 9, with early respiratory failure 29.9 TTN NEB MYPN MYOT LDB3 FLNC
8 respiratory failure 29.9 TTN SELENON MYPN DMD
9 multiminicore disease 29.8 TTN SELENON NEB MYOT DCAF8
10 myopathy, spheroid body 29.7 TTN NEBL NEB MYPN MYOT LDB3
11 limb-girdle muscular dystrophy type 1a 29.2 TTN MYOT FLNC DYSF CAPN3
12 miyoshi muscular dystrophy 28.9 TTN MYOT FLNC DYSF DMD DES
13 cardiomyopathy, familial hypertrophic, 1 28.7 TTN SELENON NEB MYPN LDB3 FLNC
14 myopathy, myofibrillar, 5 28.7 TTN SYNC MYOT LDB3 FLNC DMD
15 myopathy, myofibrillar, 3 28.4 TTN SYNM SYNC PLEC NEB MYPN
16 restrictive cardiomyopathy 28.4 TTN NEBL MYPN MYOT LDB3 FLNC
17 myofibrillar myopathy 28.1 TTN SYNM SYNC SELENON PLEC NEBL
18 muscular dystrophy 28.0 TTN SYNC SELENON PLEC NEB MYOT
19 left ventricular noncompaction 27.9 TTN PLEC NEBL NEB MYPN MYOT
20 neuromuscular disease 27.8 TTN SYNC SELENON PLEC NEB MYOT
21 hypertrophic cardiomyopathy 27.6 TTN NEBL NEB MYPN MYOT LDB3
22 limb-girdle muscular dystrophy 27.6 TTN PLEC NEB MYOT LDB3 FLNC
23 myopathy 27.4 TTN SYNM SYNC SELENON RPS27A PLEC
24 dilated cardiomyopathy 27.0 TTN PLEC NEBL NEB MYPN MYOT
25 myopathy, myofibrillar, 7 10.9
26 myopathy, myofibrillar, 8 10.9
27 myofibrillar myopathy 10 10.9
28 myofibrillar myopathy 11 10.9
29 myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy 10.9
30 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction 10.4
31 sick sinus syndrome 10.4
32 gastrointestinal stromal tumor 10.3
33 cardiac conduction defect 10.2
34 muscular dystrophy, limb-girdle, type 1h 10.2 MYOT DNAJB6
35 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.2 TTN LDB3
36 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.2 TTN LDB3
37 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.2 TTN LDB3
38 cardiomyopathy, dilated, 1dd 10.2 TTN LDB3
39 muscular dystrophy, limb-girdle, autosomal dominant 3 10.2 MYOT DNAJB6 DES
40 epidermolysis bullosa simplex 5a, ogna type 10.2 SYNM SYNC PLEC
41 fatal infantile hypertonic myofibrillar myopathy 10.2 MYOT DNAJB6 CRYAB
42 epithelial basement membrane dystrophy 10.2 SYNM SYNC PLEC
43 familial isolated restrictive cardiomyopathy 10.2 MYPN FLNC
44 epidermolysis bullosa simplex 5b, with muscular dystrophy 10.2 SYNM SYNC PLEC
45 cardiac sarcoidosis 10.2 TTN FLNC
46 cardiomyopathy, familial restrictive, 2 10.2 MYPN FLNC
47 epidermolysis bullosa simplex 2f, with mottled pigmentation 10.2 SYNM SYNC PLEC
48 scapuloperoneal syndrome, neurogenic, kaeser type 10.2 SELENON MYOT LDB3 DES
49 nemaline myopathy 11, autosomal recessive 10.2 MYPN MYOT
50 atrioventricular block 10.2

Graphical network of the top 20 diseases related to Myopathy, Myofibrillar, 1:



Diseases related to Myopathy, Myofibrillar, 1

Symptoms & Phenotypes for Myopathy, Myofibrillar, 1

Human phenotypes related to Myopathy, Myofibrillar, 1:

58 30 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 distal lower limb muscle weakness 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009053
2 axial muscle weakness 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003327
3 progressive muscle weakness 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003323
4 congestive heart failure 58 30 Frequent (33%) Frequent (79-30%)
HP:0001635
5 atrioventricular block 58 30 Frequent (33%) Frequent (79-30%)
HP:0001678
6 supraventricular arrhythmia 58 30 Frequent (33%) Frequent (79-30%)
HP:0005115
7 respiratory insufficiency due to muscle weakness 58 30 Very rare (1%) Frequent (79-30%)
HP:0002747
8 difficulty walking 58 30 Frequent (33%) Frequent (79-30%)
HP:0002355
9 fatigable weakness of respiratory muscles 58 30 Frequent (33%) Frequent (79-30%)
HP:0030196
10 concentric hypertrophic cardiomyopathy 58 30 Frequent (33%) Frequent (79-30%)
HP:0005157
11 loss of ambulation 30 Frequent (33%) HP:0002505
12 sudden cardiac death 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001645
13 fatigable weakness of bulbar muscles 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030192
14 weakness of facial musculature 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030319
15 thoracic kyphoscoliosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005659
16 areflexia of lower limbs 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002522
17 neck flexor weakness 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003722
18 spinal rigidity 58 30 Very rare (1%) Very rare (<4-1%)
HP:0003306
19 hypertrophic cardiomyopathy 30 Very rare (1%) HP:0001639
20 dilated cardiomyopathy 30 Very rare (1%) HP:0001644
21 third degree atrioventricular block 30 Very rare (1%) HP:0001709
22 restrictive cardiomyopathy 30 Very rare (1%) HP:0001723
23 bradycardia 30 Very rare (1%) HP:0001662
24 constipation 30 HP:0002019
25 facial palsy 30 HP:0010628
26 elbow flexion contracture 30 HP:0002987
27 emg: myopathic abnormalities 30 HP:0003458
28 scapular winging 30 HP:0003691
29 muscular dystrophy 30 HP:0003560
30 neck muscle weakness 30 HP:0000467
31 distal muscle weakness 30 HP:0002460
32 diarrhea 30 HP:0002014
33 loss of ability to walk 58 Frequent (79-30%)
34 bulbar palsy 30 HP:0001283
35 late-onset proximal muscle weakness 30 HP:0003694
36 hyporeflexia of lower limbs 30 HP:0002600

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Cardiovascular Heart:
hypertrophic cardiomyopathy
dilated cardiomyopathy
restrictive cardiomyopathy
restrictive heart failure
arrhythmias
more
Respiratory:
respiratory muscle weakness

Muscle Soft Tissue:
neck muscle weakness
facial weakness
bulbar weakness
distal muscle weakness occurs initially
proximal muscle weakness occurs later
more
Abdomen Gastrointestinal:
constipation due to smooth muscle involvement
diarrhea due to smooth muscle involvement

Clinical features from OMIM®:

601419 (Updated 08-Dec-2022)

UMLS symptoms related to Myopathy, Myofibrillar, 1:


facial paresis

GenomeRNAi Phenotypes related to Myopathy, Myofibrillar, 1 according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.17 BAG3 CAPN3 CRYAB DCAF8 DES DMD
2 no effect GR00402-S-2 10.17 BAG3 CAPN3 CRYAB DCAF8 DES DNAJB6

MGI Mouse Phenotypes related to Myopathy, Myofibrillar, 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 10.22 BAG3 CAPN3 CRYAB DES DMD DYSF
2 homeostasis/metabolism MP:0005376 10.16 BAG3 CAPN3 CRYAB DCAF8 DES DMD
3 normal MP:0002873 9.97 CAPN3 DMD MYOT MYPN PLEC SELENON
4 growth/size/body region MP:0005378 9.97 BAG3 CAPN3 DCAF8 DMD DNAJB6 FLNC
5 cardiovascular system MP:0005385 9.77 BAG3 CAPN3 DCAF8 DES DMD FLNC
6 behavior/neurological MP:0005386 9.5 BAG3 CRYAB DCAF8 DES DMD DYSF

Drugs & Therapeutics for Myopathy, Myofibrillar, 1

Search Clinical Trials, NIH Clinical Center for Myopathy, Myofibrillar, 1

Genetic Tests for Myopathy, Myofibrillar, 1

Genetic tests related to Myopathy, Myofibrillar, 1:

# Genetic test Affiliating Genes
1 Desmin-Related Myofibrillar Myopathy 28 DES
2 Arrhythmogenic Right Ventricular Dysplasia, Familial, 7 28

Anatomical Context for Myopathy, Myofibrillar, 1

Organs/tissues related to Myopathy, Myofibrillar, 1:

MalaCards : Skeletal Muscle, Heart, Smooth Muscle, Liver
ODiseA: Skeletal Muscle, Heart-Ventricle, Heart

Publications for Myopathy, Myofibrillar, 1

Articles related to Myopathy, Myofibrillar, 1:

(show top 50) (show all 229)
# Title Authors PMID Year
1
A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation. 53 62 57 5
10545598 1999
2
Missense mutations in desmin associated with familial cardiac and skeletal myopathy. 53 62 57 5
9697706 1998
3
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation. 62 57 5
22395865 2012
4
Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks. 62 57 5
20423733 2010
5
Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene. 62 57 5
19879535 2009
6
Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin. 62 57 5
19433360 2009
7
Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene. 62 57 5
17720647 2007
8
Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies. 62 57 5
17221859 2007
9
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q. 62 57 5
10970245 1999
10
Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23. 62 57 5
9382102 1997
11
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 57 5
30055862 2018
12
Restrictive cardiomyopathy due to novel desmin gene mutation. 57 5
28703267 2017
13
A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies. 57 5
23687351 2013
14
Diagnostic challenge in desmin cardiomyopathy with transformation of clinical phenotypes. 57 5
22484823 2013
15
Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics. 57 5
22275259 2012
16
Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family. 57 5
18061454 2008
17
Desmin splice variants causing cardiac and skeletal myopathy. 57 5
11073539 2000
18
A dysfunctional desmin mutation in a patient with severe generalized myopathy. 57 5
9736733 1998
19
Desmin myopathy: a multisystem disorder involving skeletal, cardiac, and smooth muscle. 57 5
7672786 1995
20
Autosomal dominant distal myopathy with desmin storage: a clinicopathologic and electrophysiologic study of a large kinship. 57 5
8114783 1994
21
Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene. 53 62 57
15122708 2004
22
Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy. 53 62 57
14648196 2004
23
Structural and functional analysis of a new desmin variant causing desmin-related myopathy. 53 62 5
11668632 2001
24
Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin. 62 57
31024060 2019
25
A novel phenotype with splicing mutation identified in a Chinese family with desminopathy. 62 5
30614851 2019
26
Autophagic vacuolar pathology in desminopathies. 62 5
25557463 2015
27
Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy. 62 5
23815709 2013
28
Recurrent and founder mutations in the Netherlands: the cardiac phenotype of DES founder mutations p.S13F and p.N342D. 62 5
22215463 2012
29
Desmin-related myopathy. 62 57
20718792 2011
30
A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene. 62 5
20696008 2011
31
Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease. 62 5
19587455 2009
32
Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3. 62 57
18197198 2008
33
Restrictive cardiomyopathy with atrioventricular conduction block resulting from a desmin mutation. 62 5
16890305 2007
34
Prevalence of desmin mutations in dilated cardiomyopathy. 62 5
17325244 2007
35
Desmin-related myopathy: clinical, electrophysiological, radiological, neuropathological and genetic studies. 62 5
15050448 2004
36
A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin. 62 5
14991347 2004
37
Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene. 62 5
10717012 2000
38
Familial desminopathy: myopathy with accumulation of desmin-type intermediate filaments. 62 57
8509778 1993
39
Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients. 5
33673806 2021
40
DES mutation associated with cardiac hypertrophy and alternating bundle branch block. 5
33505848 2021
41
Genetic basis of cardiomyopathy and the genotypes involved in prognosis and left ventricular reverse remodeling. 5
29386531 2018
42
Applying High-Resolution Variant Classification to Cardiac Arrhythmogenic Gene Testing in a Demographically Diverse Cohort of Sudden Unexplained Deaths. 5
29247119 2017
43
Generation of iPSC line from desmin-related cardiomyopathy patient carrying splice site mutation of DES gene. 5
29034897 2017
44
Myofibrillar Cardiomyopathy due to a Novel Desmin Gene Mutation: Complementary Role of Echocardiography, Cardiac Magnetic Resonance, and Genetic Testing in Delineating Diagnosis. 5
30062237 2017
45
Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue. 5
27393313 2016
46
Molecular diagnostic experience of whole-exome sequencing in adult patients. 5
26633545 2016
47
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 5
27854218 2016
48
Desmin Mutation in the C-Terminal Domain Impairs Traction Force Generation in Myoblasts. 5
26789769 2016
49
The toxic effect of R350P mutant desmin in striated muscle of man and mouse. 5
25394388 2015
50
Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities. 5
23575897 2013

Variations for Myopathy, Myofibrillar, 1

ClinVar genetic disease variations for Myopathy, Myofibrillar, 1:

5 (show top 50) (show all 594)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DES NM_001927.4(DES):c.226del (p.Thr76fs) DEL Pathogenic
643624 rs1399282762 GRCh37: 2:220283410-220283410
GRCh38: 2:219418688-219418688
2 DES NM_001927.4(DES):c.634C>T (p.Arg212Ter) SNV Pathogenic
201722 rs781590560 GRCh37: 2:220284872-220284872
GRCh38: 2:219420150-219420150
3 DES NM_001927.4(DES):c.525_526del (p.Val176fs) MICROSAT Pathogenic
1069497 GRCh37: 2:220283700-220283701
GRCh38: 2:219418978-219418979
4 DES NM_001927.4(DES):c.973C>T (p.Arg325Ter) SNV Pathogenic
872137 rs959034410 GRCh37: 2:220285625-220285625
GRCh38: 2:219420903-219420903
5 DES NM_001927.4(DES):c.885G>A (p.Trp295Ter) SNV Pathogenic
1071184 GRCh37: 2:220285366-220285366
GRCh38: 2:219420644-219420644
6 DES NM_001927.4(DES):c.309del (p.Thr104fs) DEL Pathogenic
1073348 GRCh37: 2:220283492-220283492
GRCh38: 2:219418770-219418770
7 DES NM_001927.4(DES):c.452_459del (p.Val151fs) DEL Pathogenic
1075297 GRCh37: 2:220283632-220283639
GRCh38: 2:219418910-219418917
8 DES NM_001927.4(DES):c.1213del (p.Tyr405fs) DEL Pathogenic
285337 rs886043080 GRCh37: 2:220286251-220286251
GRCh38: 2:219421529-219421529
9 DES NM_001927.4(DES):c.514C>T (p.Gln172Ter) SNV Pathogenic
575355 rs1559352440 GRCh37: 2:220283698-220283698
GRCh38: 2:219418976-219418976
10 DES NM_001927.4(DES):c.735+1G>T SNV Pathogenic
578016 rs397516698 GRCh37: 2:220285069-220285069
GRCh38: 2:219420347-219420347
11 DES NM_001927.4(DES):c.1237G>T (p.Glu413Ter) SNV Pathogenic
639669 rs61726467 GRCh37: 2:220286275-220286275
GRCh38: 2:219421553-219421553
12 DES NM_001927.4(DES):c.1132_1153del (p.Lys378fs) DEL Pathogenic
641138 rs1575014943 GRCh37: 2:220286168-220286189
GRCh38: 2:219421446-219421467
13 DES NM_001927.4(DES):c.7C>T (p.Gln3Ter) SNV Pathogenic
836201 rs1954358233 GRCh37: 2:220283191-220283191
GRCh38: 2:219418469-219418469
14 DES NM_001927.4(DES):c.369del (p.Ile123fs) DEL Pathogenic
228548 rs747289875 GRCh37: 2:220283553-220283553
GRCh38: 2:219418831-219418831
15 DES NM_001927.4(DES):c.1048C>T (p.Arg350Trp) SNV Pathogenic
44244 rs62636492 GRCh37: 2:220286086-220286086
GRCh38: 2:219421364-219421364
16 DES NM_001927.4(DES):c.322G>T (p.Glu108Ter) SNV Pathogenic
804737 rs62636490 GRCh37: 2:220283506-220283506
GRCh38: 2:219418784-219418784
17 DES NM_001927.4(DES):c.1285C>T (p.Arg429Ter) SNV Pathogenic
Likely Pathogenic
177872 rs150974575 GRCh37: 2:220288539-220288539
GRCh38: 2:219423817-219423817
18 DES NM_001927.4(DES):c.599T>A (p.Leu200Ter) SNV Pathogenic
1425778 GRCh37: 2:220284837-220284837
GRCh38: 2:219420115-219420115
19 DES NM_001927.4(DES):c.1090C>T (p.Gln364Ter) SNV Pathogenic
1453987 GRCh37: 2:220286128-220286128
GRCh38: 2:219421406-219421406
20 DES NM_001927.4(DES):c.112del (p.Ala38fs) DEL Pathogenic
1453500 GRCh37: 2:220283294-220283294
GRCh38: 2:219418572-219418572
21 DES NM_001927.4(DES):c.1076_1084del (p.Glu359_Ser361del) DEL Pathogenic
66391 rs58409037 GRCh37: 2:220286107-220286115
GRCh38: 2:219421385-219421393
22 DES NM_001927.4(DES):c.735+3A>G SNV Pathogenic
Pathogenic
66419 rs267607483 GRCh37: 2:220285071-220285071
GRCh38: 2:219420349-219420349
23 DES NM_001927.4(DES):c.1034T>C (p.Leu345Pro) SNV Pathogenic
16825 rs57639980 GRCh37: 2:220286072-220286072
GRCh38: 2:219421350-219421350
24 DES NM_001927.4(DES):c.1255C>T (p.Pro419Ser) SNV Pathogenic
39718 rs62635763 GRCh37: 2:220288509-220288509
GRCh38: 2:219423787-219423787
25 DES NM_001927.4(DES):c.38C>T (p.Ser13Phe) SNV Pathogenic
44260 rs62636495 GRCh37: 2:220283222-220283222
GRCh38: 2:219418500-219418500
26 DES NM_001927.4(DES):c.1009G>C (p.Ala337Pro) SNV Pathogenic
16820 rs59962885 GRCh37: 2:220285661-220285661
GRCh38: 2:219420939-219420939
27 DES NM_001927.4(DES):c.1078G>C (p.Ala360Pro) SNV Pathogenic
16821 rs121913000 GRCh37: 2:220286116-220286116
GRCh38: 2:219421394-219421394
28 DES NM_001927.4(DES):c.1178A>T (p.Asn393Ile) SNV Pathogenic
16822 rs121913001 GRCh37: 2:220286216-220286216
GRCh38: 2:219421494-219421494
29 DES NM_001927.4(DES):c.521_541del (p.Ala174_Arg180del) DEL Pathogenic
16823 rs60538473 GRCh37: 2:220283699-220283719
GRCh38: 2:219418977-219418997
30 DES NM_001927.4(DES):c.1154T>C (p.Leu385Pro) SNV Pathogenic
16829 rs57955682 GRCh37: 2:220286192-220286192
GRCh38: 2:219421470-219421470
31 DES NM_001927.4(DES):c.1166A>C (p.Gln389Pro) SNV Pathogenic
16830 rs121913004 GRCh37: 2:220286204-220286204
GRCh38: 2:219421482-219421482
32 DES NM_001927.4(DES):c.394C>T (p.Gln132Ter) SNV Pathogenic
411124 rs1060503165 GRCh37: 2:220283578-220283578
GRCh38: 2:219418856-219418856
33 DES NM_001927.4(DES):c.1289-2A>G SNV Pathogenic
56823 rs398122940 GRCh37: 2:220290383-220290383
GRCh38: 2:219425661-219425661
34 DES NM_001927.4(DES):c.639+4_639+5del DEL Pathogenic
180206 rs730880289 GRCh37: 2:220284880-220284881
GRCh38: 2:219420158-219420159
35 DES NM_001927.4(DES):c.640-1G>A SNV Pathogenic
66415 rs267607484 GRCh37: 2:220284972-220284972
GRCh38: 2:219420250-219420250
36 DES NM_001927.4(DES):c.1255_1271del (p.Pro419fs) DEL Pathogenic
522796 rs1553603732 GRCh37: 2:220288506-220288522
GRCh38: 2:219423784-219423800
37 DES NM_001927.4(DES):c.336_344del (p.Gln113_Leu115del) DEL Pathogenic
548445 rs1553603239 GRCh37: 2:220283514-220283522
GRCh38: 2:219418792-219418800
38 DES NM_001927.4(DES):c.700G>T (p.Glu234Ter) SNV Pathogenic
1334101 GRCh37: 2:220285033-220285033
GRCh38: 2:219420311-219420311
39 DES NM_001927.4(DES):c.1091_1108del (p.Gln364_Arg369del) DEL Pathogenic
801900 rs1575014889 GRCh37: 2:220286127-220286144
GRCh38: 2:219421405-219421422
40 DES NM_001927.4(DES):c.1043A>C (p.Gln348Pro) SNV Pathogenic
617786 rs1411703397 GRCh37: 2:220286081-220286081
GRCh38: 2:219421359-219421359
41 DES NM_001927.4(DES):c.720_722del (p.Lys241del) DEL Pathogenic
1322203 GRCh37: 2:220285051-220285053
GRCh38: 2:219420329-219420331
42 DES NM_001927.4(DES):c.1346A>C (p.Lys449Thr) SNV Pathogenic
66400 rs267607485 GRCh37: 2:220290442-220290442
GRCh38: 2:219425720-219425720
43 DES NM_001927.4(DES):c.194dup (p.Leu66fs) DUP Pathogenic
1075242 GRCh37: 2:220283373-220283374
GRCh38: 2:219418651-219418652
44 DES NM_001927.4(DES):c.1024A>G (p.Asn342Asp) SNV Pathogenic
66388 rs267607482 GRCh37: 2:220286062-220286062
GRCh38: 2:219421340-219421340
45 DES NM_001927.4(DES):c.35C>T (p.Ser12Phe) SNV Pathogenic
66412 rs267607495 GRCh37: 2:220283219-220283219
GRCh38: 2:219418497-219418497
46 DES NM_001927.4(DES):c.1325C>T (p.Thr442Ile) SNV Pathogenic
16834 rs121913005 GRCh37: 2:220290421-220290421
GRCh38: 2:219425699-219425699
47 DES NM_001927.4(DES):c.1109T>C (p.Leu370Pro) SNV Pathogenic
66393 rs59308628 GRCh37: 2:220286147-220286147
GRCh38: 2:219421425-219421425
48 DES NM_001927.4(DES):c.254_255insT (p.Gly86fs) INSERT Pathogenic
836891 rs1273708097 GRCh37: 2:220283438-220283439
GRCh38: 2:219418716-219418717
49 DES NC_000002.12:g.(?_219418453)_(219426000_?)del DEL Pathogenic
831683 GRCh37: 2:220283175-220290722
GRCh38:
50 DES NM_001927.4(DES):c.373A>T (p.Lys125Ter) SNV Pathogenic
285007 rs886043000 GRCh37: 2:220283557-220283557
GRCh38: 2:219418835-219418835

UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Myofibrillar, 1:

73 (show all 31)
# Symbol AA change Variation ID SNP ID
1 DES p.Ala337Pro VAR_007900 rs59962885
2 DES p.Ala360Pro VAR_007901 rs121913000
3 DES p.Asn393Ile VAR_007902 rs121913001
4 DES p.Leu345Pro VAR_009189 rs57639980
5 DES p.Leu385Pro VAR_018771 rs57955682
6 DES p.Gln389Pro VAR_018772 rs121913004
7 DES p.Ile451Met VAR_018773 rs121913002
8 DES p.Ser2Ile VAR_042448 rs58999456
9 DES p.Ser46Phe VAR_042449 rs60794845
10 DES p.Ser46Tyr VAR_042450 rs60794845
11 DES p.Glu245Asp VAR_042452 rs267607486
12 DES p.Asn342Asp VAR_042453 rs267607482
13 DES p.Arg350Pro VAR_042454 rs57965306
14 DES p.Arg355Pro VAR_042455 rs61368398
15 DES p.Ala357Pro VAR_042456 rs58898021
16 DES p.Leu370Pro VAR_042457 rs59308628
17 DES p.Arg406Trp VAR_042458 rs121913003
18 DES p.Thr442Ile VAR_042459 rs121913005
19 DES p.Lys449Met VAR_042460
20 DES p.Lys449Thr VAR_042461 rs267607485
21 DES p.Arg454Trp VAR_042462 rs267607490
22 DES p.Ser460Ile VAR_042463 rs267607491
23 DES p.Ser7Phe VAR_067207 rs903985237
24 DES p.Ser13Phe VAR_067208 rs62636495
25 DES p.Leu338Arg VAR_067209 rs57496341
26 DES p.Asp399Tyr VAR_067210 rs61130669
27 DES p.Glu401Lys VAR_067211 rs57694264
28 DES p.Pro419Ser VAR_069074 rs62635763
29 DES p.Asn116Ser VAR_069191 rs267607499
30 DES p.Arg16Cys VAR_079048 rs60798368
31 DES p.Thr453Ile VAR_079049 rs267607488

Expression for Myopathy, Myofibrillar, 1

Search GEO for disease gene expression data for Myopathy, Myofibrillar, 1.

Pathways for Myopathy, Myofibrillar, 1

GO Terms for Myopathy, Myofibrillar, 1

Cellular components related to Myopathy, Myofibrillar, 1 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.5 BAG3 CAPN3 CRYAB DCAF8 DES DMD
2 axon GO:0030424 10.18 PLEC MYPN MYOT DMD CRYAB
3 cytoskeleton GO:0005856 10.17 SYNM PLEC NEB MYOT LDB3 FLNC
4 intermediate filament GO:0005882 10.1 SYNM SYNC PLEC DES
5 stress fiber GO:0001725 9.99 NEBL LDB3 BAG3
6 intermediate filament cytoskeleton GO:0045111 9.95 SYNM PLEC DES
7 I band GO:0031674 9.87 CRYAB MYPN NEBL TTN
8 costamere GO:0043034 9.86 SYNM PLEC FLNC DMD
9 sarcolemma GO:0042383 9.86 DES DMD DYSF FLNC MYOT PLEC
10 Z disc GO:0030018 9.8 TTN SYNC PLEC NEBL NEB MYPN
11 cardiac myofibril GO:0097512 9.76 CRYAB DES
12 myofibril GO:0030016 9.71 PLEC DMD CAPN3
13 contractile fiber GO:0043292 9.46 PLEC NEB DES CRYAB

Biological processes related to Myopathy, Myofibrillar, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.97 NEB DMD CRYAB CAPN3
2 intermediate filament organization GO:0045109 9.88 PLEC DNAJB6 DES
3 muscle contraction GO:0006936 9.76 CRYAB DES MYOT TTN
4 muscle structure development GO:0061061 9.73 LDB3 CAPN3
5 muscle cell cellular homeostasis GO:0046716 9.73 DMD CAPN3 BAG3
6 cardiac muscle thin filament assembly GO:0071691 9.62 NEBL NEB
7 actin cytoskeleton organization GO:0030036 9.56 PLEC LDB3 FLNC DNAJB6 DMD
8 sarcomere organization GO:0045214 9.4 TTN PLEC MYPN LDB3 FLNC CAPN3

Molecular functions related to Myopathy, Myofibrillar, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 10.03 TTN PLEC NEBL NEB FLNC DMD
2 structural constituent of cytoskeleton GO:0005200 9.97 SYNM PLEC DMD DES
3 actin binding GO:0003779 9.93 DMD FLNC LDB3 MYOT MYPN NEB
4 muscle alpha-actinin binding GO:0051371 9.8 TTN MYPN LDB3
5 vinculin binding GO:0017166 9.73 SYNM DMD
6 cytoskeletal protein binding GO:0008092 9.73 PLEC NEBL MYPN LDB3 FLNC DES
7 dystroglycan binding GO:0002162 9.71 PLEC DMD
8 structural constituent of muscle GO:0008307 9.53 TTN SYNM PLEC NEBL NEB MYOT

Sources for Myopathy, Myofibrillar, 1

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
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