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MFM1
MCID: MYP072
MIFTS: 55

Myopathy, Myofibrillar, 1 (MFM1)

Categories: Cancer diseases, Cardiovascular diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases, Smell/Taste diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Myopathy, Myofibrillar, 1

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MalaCards integrated aliases for Myopathy, Myofibrillar, 1:

Name: Myopathy, Myofibrillar, 1 57 73 13
Myofibrillar Myopathy 1 12 29 6 15
Muscular Dystrophy, Limb-Girdle, Type 2r 73 29 6
Desmin-Related Myopathy 57 73 54
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 29 71
Myopathy, Myofibrillar, Desmin-Related 57 71
Desmin-Related Myofibrillar Myopathy 74 58
Desminopathy 12 58
Mfm1 57 73
Drm 57 73
Cardiomyopathy, Dilated, with Conduction Defect and Muscular Dystrophy; Cdcd3, Formerly 57
Arrhythmogenic Right Ventricular Dysplasia, Familial, 7, Formerly; Arvd7, Formerly 57
Cardiomyopathy, Dilated, 1f and Limb-Girdle Muscular Dystrophy Type 1d, Formerly 57
Arrhythmogenic Right Ventricular Cardiomyopathy 7, Formerly; Arvc7, Formerly 57
Inclusion Body Myopathy 1, Autosomal Dominant, Formerly; Ibm1, Formerly 57
Cardiomyopathy, Dilated, with Conduction Defect and Muscular Dystrophy 57
Muscular Dystrophy, Limb-Girdle, Type 2r, Formerly; Lgmd2r, Formerly 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 12
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 39
Myopathy Myofibrillar Desmin-Related 73
Limb-Girdle Muscular Dystrophy 2r 73
Desmin-Related Myopathy; Drm 57
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:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
variable phenotype
onset usually in second or third decades
autosomal dominant and autosomal recessive forms


HPO:

31
myopathy, myofibrillar, 1:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course adult onset


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Neuronal diseases Muscle diseases Respiratory diseases Cardiovascular diseases Smell/Taste diseases Oral diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0080092
OMIM® 57 601419
OMIM Phenotypic Series 57 PS601419
MeSH 44 D020914
ICD10 32 G71.0
ICD10 via Orphanet 33 G71.8
UMLS via Orphanet 72 C1832370
Orphanet 58 ORPHA98909
MedGen 41 C1832370
UMLS 71 C1832370 C1836704
Sources

Summaries for Myopathy, Myofibrillar, 1

About this section
UniProtKB/Swiss-Prot : 73 Myopathy, myofibrillar, 1: 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.

MalaCards based summary : Myopathy, Myofibrillar, 1, also known as myofibrillar myopathy 1, is related to rigid spine muscular dystrophy 1 and myopathy, spheroid body, and has symptoms including facial paresis An important gene associated with Myopathy, Myofibrillar, 1 is DES (Desmin), and among its related pathways/superpathways are Cytoskeletal Signaling and Dilated cardiomyopathy. Affiliated tissues include skeletal muscle, heart and smooth muscle, and related phenotypes are distal lower limb muscle weakness and progressive muscle weakness

Disease Ontology : 12 A myofibrillar myopathy that has material basis in heterozygous, homozygous, or compound heterozygous mutation in the desmin gene on chromosome 2q35.

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 05-Mar-2021)

Wikipedia : 74 Desmin-related myofibrillar myopathy, also called Helmer's myopathy, is a subgroup of the myofibrillar... more...

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Related Diseases for Myopathy, Myofibrillar, 1

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Diseases in the Myofibrillar Myopathy family:

Myopathy, Myofibrillar, 1 Myopathy, Myofibrillar, 2
Myopathy, Myofibrillar, 3 Myopathy, Myofibrillar, 4
Myopathy, Myofibrillar, 5 Myopathy, Myofibrillar, 6
Myopathy, Myofibrillar, 7 Myopathy, Myofibrillar, 8
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 136)
# Related Disease Score Top Affiliating Genes
1 rigid spine muscular dystrophy 1 31.9 TTN SELENON MYOT LMNA LDB3 DMD
2 myopathy, spheroid body 31.2 NEB MYPN MYOT LDB3 FLNC DES
3 myopathy, myofibrillar, 2 30.9 SYNC SELENON PLEC MYOT LDB3 FLNC
4 cardiomyopathy, dilated, 1h 30.6 TTN LMNA DES BAG3
5 rigid spine muscular dystrophy 30.6 SELENON LMNA
6 multiminicore disease 30.5 TTN SELENON
7 myopathy, myofibrillar, 9, with early respiratory failure 30.5 TTN NEB MYPN MYOT LDB3 FLNC
8 arrhythmogenic right ventricular cardiomyopathy 30.3 TTN PLEC MYPN LMNA LDB3 FLNC
9 lmna-related dilated cardiomyopathy 30.3 TTN LMNA BAG3
10 atrioventricular block 30.2 TTN LMNA DES CRYAB
11 myopathy, myofibrillar, 3 30.1 TTN SYNM SYNC PLEC MYPN MYOT
12 atrial standstill 1 30.0 TTN MYOT LMNA FLNC DMD DES
13 respiratory failure 30.0 TTN SELENON MYPN DMD
14 miyoshi muscular dystrophy 29.8 TTN MYOT FLNC DMD DES CAPN3
15 limb-girdle muscular dystrophy 29.7 TTN PLEC MYOT LMNA CAPN3
16 myofibrillar myopathy 29.7 XIRP2 TTN SYNM SYNC SELENON PLEC
17 neuromuscular disease 29.5 TTN SYNC MYOT LMNA LDB3 DMD
18 restrictive cardiomyopathy 29.4 TTN MYPN LMNA FLNC DMD DES
19 hypertrophic cardiomyopathy 29.1 TTN MYPN LMNA LDB3 FLNC DMD
20 myopathy, myofibrillar, 5 28.9 XIRP2 TTN SYNC SELENON PLEC MYOT
21 dilated cardiomyopathy 28.8 TTN SYNM PLEC MYPN MYOT LMNA
22 myopathy 28.6 TTN SYNM SYNC SELENON RPS27A PLEC
23 muscular dystrophy 28.5 TTN SYNC SELENON PLEC NEB MYOT
24 myopathy, myofibrillar, 6 10.9
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 autosomal recessive limb-girdle muscular dystrophy type 2w 10.4 MYOT DES
30 sick sinus syndrome 10.4
31 extracardiac rhabdomyoma 10.3 DMD DES
32 cytoplasmic body myopathy 10.3 DMD DES
33 muscular dystrophy, limb-girdle, type 1h 10.3 MYOT DNAJB6
34 epithelial basement membrane dystrophy 10.3 SYNC PLEC
35 microcolon 10.3 DMD DES
36 cardiomyopathy, familial restrictive, 2 10.3 MYPN FLNC
37 left ventricular noncompaction 1 10.3 MYPN LDB3
38 muscular dystrophy, limb-girdle, autosomal dominant 3 10.3 MYOT DNAJB6 DES
39 muscular dystrophy-dystroglycanopathy , type c, 9 10.3 MYOT DNAJB6 DES
40 autosomal dominant distal myopathy 10.3 MYOT DMD DES
41 epidermolysis bullosa simplex with muscular dystrophy 10.3 SYNM SYNC PLEC
42 scapuloperoneal syndrome, neurogenic, kaeser type 10.3 SELENON MYOT LDB3 DES
43 cardiomyopathy, familial restrictive, 3 10.3 MYPN FLNC
44 foot drop 10.3 TTN NEB MYOT
45 autosomal recessive limb-girdle muscular dystrophy type 2l 10.3 MYOT CAPN3
46 autosomal recessive limb-girdle muscular dystrophy type 2h 10.3 MYOT CAPN3
47 cardiomyopathy, dilated, 1dd 10.2 TTN LDB3
48 dysphagia 10.2 NEB DES
49 alexander disease 10.2 SYNM PLEC CRYAB
50 gastrointestinal stromal tumor 10.2

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



Diseases related to Myopathy, Myofibrillar, 1
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Symptoms & Phenotypes for Myopathy, Myofibrillar, 1

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Human phenotypes related to Myopathy, Myofibrillar, 1:

58 31 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 distal lower limb muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0009053
2 progressive muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0003323
3 axial muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0003327
4 congestive heart failure 58 31 frequent (33%) Frequent (79-30%) HP:0001635
5 atrioventricular block 58 31 frequent (33%) Frequent (79-30%) HP:0001678
6 supraventricular arrhythmia 58 31 frequent (33%) Frequent (79-30%) HP:0005115
7 respiratory insufficiency due to muscle weakness 58 31 very rare (1%) Frequent (79-30%) HP:0002747
8 loss of ability to walk 58 31 frequent (33%) Frequent (79-30%) HP:0006957
9 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
10 fatigable weakness of respiratory muscles 58 31 frequent (33%) Frequent (79-30%) HP:0030196
11 concentric hypertrophic cardiomyopathy 58 31 frequent (33%) Frequent (79-30%) HP:0005157
12 sudden cardiac death 58 31 occasional (7.5%) Occasional (29-5%) HP:0001645
13 fatigable weakness of bulbar muscles 58 31 occasional (7.5%) Occasional (29-5%) HP:0030192
14 thoracic kyphoscoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0005659
15 areflexia of lower limbs 58 31 occasional (7.5%) Occasional (29-5%) HP:0002522
16 neck flexor weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0003722
17 weakness of facial musculature 58 31 occasional (7.5%) Occasional (29-5%) HP:0030319
18 spinal rigidity 58 31 very rare (1%) Very rare (<4-1%) HP:0003306
19 hypertrophic cardiomyopathy 31 very rare (1%) HP:0001639
20 dilated cardiomyopathy 31 very rare (1%) HP:0001644
21 third degree atrioventricular block 31 very rare (1%) HP:0001709
22 restrictive cardiomyopathy 31 very rare (1%) HP:0001723
23 bradycardia 31 very rare (1%) HP:0001662
24 constipation 31 HP:0002019
25 facial palsy 31 HP:0010628
26 emg: myopathic abnormalities 31 HP:0003458
27 diarrhea 31 HP:0002014
28 distal muscle weakness 31 HP:0002460
29 bulbar palsy 31 HP:0001283
30 late-onset proximal muscle weakness 31 HP:0003694
31 neck muscle weakness 31 HP:0000467
32 hyporeflexia of lower limbs 31 HP:0002600

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 05-Mar-2021)

UMLS symptoms related to Myopathy, Myofibrillar, 1:


facial paresis

MGI Mouse Phenotypes related to Myopathy, Myofibrillar, 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.25 BAG3 CRYAB DES DMD FLNC LDB3
2 cardiovascular system MP:0005385 10.18 BAG3 CAPN3 DES DMD FLNC LDB3
3 growth/size/body region MP:0005378 10.07 BAG3 CAPN3 DMD DNAJB6 FLNC LDB3
4 cellular MP:0005384 10.06 ABCB6 BAG3 CRYAB DES DMD LMNA
5 homeostasis/metabolism MP:0005376 10.06 ABCB6 BAG3 CAPN3 CRYAB DES DMD
6 muscle MP:0005369 9.86 BAG3 CAPN3 CRYAB DES DMD FLNC
7 normal MP:0002873 9.32 CAPN3 DMD LMNA MYOT MYPN PLEC
Sources

Drugs & Therapeutics for Myopathy, Myofibrillar, 1

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

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Genetic Tests for Myopathy, Myofibrillar, 1

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Genetic tests related to Myopathy, Myofibrillar, 1:

# Genetic test Affiliating Genes
1 Myofibrillar Myopathy 1 29 DES
2 Muscular Dystrophy, Limb-Girdle, Type 2r 29
3 Arrhythmogenic Right Ventricular Dysplasia, Familial, 7 29
Sources

Anatomical Context for Myopathy, Myofibrillar, 1

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MalaCards organs/tissues related to Myopathy, Myofibrillar, 1:

40
Skeletal Muscle, Heart, Smooth Muscle
Sources

Publications for Myopathy, Myofibrillar, 1

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Articles related to Myopathy, Myofibrillar, 1:

(show top 50) (show all 67)
# 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. 57 54 6
10545598 1999
2
Missense mutations in desmin associated with familial cardiac and skeletal myopathy. 54 57 6
9697706 1998
3
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 6 57
30055862 2018
4
A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies. 57 6
23687351 2013
5
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation. 6 57
22395865 2012
6
Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics. 6 57
22275259 2012
7
Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks. 57 6
20423733 2010
8
Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene. 6 57
19879535 2009
9
Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin. 6 57
19433360 2009
10
Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family. 6 57
18061454 2008
11
Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene. 6 57
17720647 2007
12
Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies. 57 6
17221859 2007
13
Desmin splice variants causing cardiac and skeletal myopathy. 57 6
11073539 2000
14
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q. 6 57
10970245 1999
15
A dysfunctional desmin mutation in a patient with severe generalized myopathy. 57 6
9736733 1998
16
Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23. 6 57
9382102 1997
17
Desmin myopathy: a multisystem disorder involving skeletal, cardiac, and smooth muscle. 57 6
7672786 1995
18
Autosomal dominant distal myopathy with desmin storage: a clinicopathologic and electrophysiologic study of a large kinship. 57 6
8114783 1994
19
Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene. 54 57
15122708 2004
20
Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy. 54 57
14648196 2004
21
Structural and functional analysis of a new desmin variant causing desmin-related myopathy. 54 6
11668632 2001
22
Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin. 57
31024060 2019
23
Restrictive cardiomyopathy due to novel desmin gene mutation. 57
28703267 2017
24
Diagnostic challenge in desmin cardiomyopathy with transformation of clinical phenotypes. 57
22484823 2013
25
Desmin-related myopathy. 57
20718792 2011
26
Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3. 57
18197198 2008
27
Assembly defects of desmin disease mutants carrying deletions in the alpha-helical rod domain are rescued by wild type protein. 6
17188893 2007
28
Myofibrillar myopathy with desmin accumulation in a young Australian Shepherd dog. 57
15210162 2004
29
Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients. 57
14711882 2004
30
On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria. 6
12620971 2003
31
The 105th ENMC sponsored workshop: pathogenesis in the non-sarcoglycan limb-girdle muscular dystrophies, Naarden, April 12-14, 2002. 57
12467737 2003
32
A novel de novo mutation in the desmin gene causes desmin myopathy with toxic aggregates. 6
11061256 2000
33
Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation. 6
10905661 2000
34
Linkage of hereditary distal myopathy with desmin accumulation to 2q. 57
10686494 2000
35
Overview of distal myopathies: from the clinical to the molecular. 57
9673984 1998
36
Desmin-related neuromuscular disorders. 57
7565929 1995
37
Dominantly inherited cytoplasmic body myopathy in a Japanese kindred. 57
8122252 1993
38
Familial desminopathy: myopathy with accumulation of desmin-type intermediate filaments. 57
8509778 1993
39
[Familial myopathy with "cytoplasmic body" (or "spheroid") type inclusions, disclosed by respiratory insufficiency]. 57
2552561 1989
40
Slowly progressive congenital myopathy with cytoplasmic bodies--report of two cases and a review of the literature. 57
6301720 1982
41
An unusual familial cardiomyopathy characterized by aberrant accumulations of desmin-type intermediate filaments. 57
6889780 1981
42
A new type of hereditary distal myopathy with characteristic sarcoplasmic bodies and intermediate (skeletin) filaments. 57
6251174 1980
43
Unusual familial cardiomyopathy with storage of intermediate filaments in the cardiac muscular cells. 57
7405006 1980
44
A myopathy-linked desmin mutation perturbs striated muscle actin filament architecture. 54
19005210 2009
45
Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene. 54
16779558 2006
46
Alpha B-crystallin mutation in dilated cardiomyopathy. 54
16483541 2006
47
Alternative protein secretion: the Mam1 ABC transporter supports secretion of M-factor linked GFP in fission yeast. 61
16288715 2005
48
Desmin-related myopathy: report of a rare case. 54
16010068 2005
49
Early onset myopathy with a novel mutation in the Selenoprotein N gene (SEPN1). 54
15792869 2005
50
Genetic modification of the heart: chaperones and the cytoskeleton. 54
15572040 2004
Sources

Variations for Myopathy, Myofibrillar, 1

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ClinVar genetic disease variations for Myopathy, Myofibrillar, 1:

6 (show top 50) (show all 339)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DES DES, IVS3DS, A-G, +3 SNV Pathogenic 16827
2 DES DES, IVS2, G-A, -1 SNV Pathogenic 16828
3 DES NM_001927.4(DES):c.1154T>C (p.Leu385Pro) SNV Pathogenic 16829 rs57955682 2:220286192-220286192 2:219421470-219421470
4 DES NM_001927.4(DES):c.1166A>C (p.Gln389Pro) SNV Pathogenic 16830 rs121913004 2:220286204-220286204 2:219421482-219421482
5 DES DES, GLU359-ALA360-SER361 DEL Deletion Pathogenic 16831
6 DES NM_001927.4(DES):c.1094_1096ACA[1] (p.Asn366del) Microsatellite Pathogenic 16832 rs58687088 2:220286132-220286134 2:219421410-219421412
7 DES DES, 3-BP DEL, 720GAA Insertion Pathogenic 16833
8 DES NM_001927.4(DES):c.1325C>T (p.Thr442Ile) SNV Pathogenic 16834 rs121913005 2:220290421-220290421 2:219425699-219425699
9 DES NM_001927.4(DES):c.1255C>T (p.Pro419Ser) SNV Pathogenic 39718 rs62635763 2:220288509-220288509 2:219423787-219423787
10 DES NM_001927.4(DES):c.1009G>C (p.Ala337Pro) SNV Pathogenic 16820 rs59962885 2:220285661-220285661 2:219420939-219420939
11 DES NM_001927.4(DES):c.1078G>C (p.Ala360Pro) SNV Pathogenic 16821 rs121913000 2:220286116-220286116 2:219421394-219421394
12 DES NM_001927.4(DES):c.1178A>T (p.Asn393Ile) SNV Pathogenic 16822 rs121913001 2:220286216-220286216 2:219421494-219421494
13 DES NM_001927.4(DES):c.521_541del (p.Ala174_Arg180del) Deletion Pathogenic 16823 rs60538473 2:220283699-220283719 2:219418977-219418997
14 DES NM_001927.4(DES):c.1034T>C (p.Leu345Pro) SNV Pathogenic 16825 rs57639980 2:220286072-220286072 2:219421350-219421350
15 DES NM_001927.4(DES):c.1289-2A>G SNV Pathogenic 56823 rs398122940 2:220290383-220290383 2:219425661-219425661
16 DES NM_001927.4(DES):c.38C>T (p.Ser13Phe) SNV Pathogenic 44260 rs62636495 2:220283222-220283222 2:219418500-219418500
17 DES NM_001927.4(DES):c.1024A>G (p.Asn342Asp) SNV Pathogenic 66388 rs267607482 2:220286062-220286062 2:219421340-219421340
18 DES NM_001927.4(DES):c.735+3A>G SNV Pathogenic 66419 rs267607483 2:220285071-220285071 2:219420349-219420349
19 DES NM_001927.4(DES):c.639+4_639+5del Deletion Pathogenic 180206 rs730880289 2:220284880-220284881 2:219420158-219420159
20 DES NM_001927.4(DES):c.394C>T (p.Gln132Ter) SNV Pathogenic 411124 rs1060503165 2:220283578-220283578 2:219418856-219418856
21 DES NM_001927.4(DES):c.1255_1271del (p.Pro419fs) Deletion Pathogenic 522796 rs1553603732 2:220288506-220288522 2:219423784-219423800
22 DES NM_001927.4(DES):c.1216C>T (p.Arg406Trp) SNV Pathogenic 16826 rs121913003 2:220286254-220286254 2:219421532-219421532
23 DES NM_001927.4(DES):c.1049G>C (p.Arg350Pro) SNV Pathogenic 16835 rs57965306 2:220286087-220286087 2:219421365-219421365
24 DES NM_001927.4(DES):c.336_344del (p.Gln113_Leu115del) Deletion Pathogenic 548445 rs1553603239 2:220283514-220283522 2:219418792-219418800
25 DES NM_001927.4(DES):c.1360C>T (p.Arg454Trp) SNV Pathogenic 66402 rs267607490 2:220290456-220290456 2:219425734-219425734
26 DES NM_001927.4(DES):c.1213del (p.Tyr405fs) Deletion Pathogenic 285337 rs886043080 2:220286251-220286251 2:219421529-219421529
27 DES NM_001927.4(DES):c.514C>T (p.Gln172Ter) SNV Pathogenic 575355 rs1559352440 2:220283698-220283698 2:219418976-219418976
28 DES NM_001927.4(DES):c.373A>T (p.Lys125Ter) SNV Pathogenic 285007 rs886043000 2:220283557-220283557 2:219418835-219418835
29 ABCB6 NC_000002.11:g.(?_219135239)_(220290732_?)del Deletion Pathogenic 583449 2:219135239-220290732
30 DES NM_001927.4(DES):c.1043A>C (p.Gln348Pro) SNV Pathogenic 617786 rs1411703397 2:220286081-220286081 2:219421359-219421359
31 DES NM_001927.4(DES):c.226del (p.Thr76fs) Deletion Pathogenic 643624 rs1399282762 2:220283410-220283410 2:219418688-219418688
32 DES NM_001927.4(DES):c.1255C>T (p.Pro419Ser) SNV Pathogenic 39718 rs62635763 2:220288509-220288509 2:219423787-219423787
33 DES NM_001927.4(DES):c.1237G>T (p.Glu413Ter) SNV Pathogenic 639669 rs61726467 2:220286275-220286275 2:219421553-219421553
34 DES NM_001927.4(DES):c.1132_1153del (p.Lys378fs) Deletion Pathogenic 641138 rs1575014943 2:220286168-220286189 2:219421446-219421467
35 DES NM_001927.4(DES):c.1325C>T (p.Thr442Ile) SNV Pathogenic 16834 rs121913005 2:220290421-220290421 2:219425699-219425699
36 DES NM_001927.4(DES):c.1013T>G (p.Leu338Arg) SNV Pathogenic 66387 rs57496341 2:220285665-220285665 2:219420943-219420943
37 DES NC_000002.12:g.(?_219418453)_(219426000_?)del Deletion Pathogenic 831683 2:220283175-220290722
38 DES NM_001927.4(DES):c.7C>T (p.Gln3Ter) SNV Pathogenic 836201 2:220283191-220283191 2:219418469-219418469
39 DES NM_001927.4(DES):c.254_255insT (p.Gly86fs) Insertion Pathogenic 836891 2:220283438-220283439 2:219418716-219418717
40 DES NM_001927.4(DES):c.1091_1108del (p.Gln364_Arg369del) Deletion Pathogenic 801900 rs1575014889 2:220286127-220286144 2:219421405-219421422
41 DES NM_001927.4(DES):c.1109T>C (p.Leu370Pro) SNV Pathogenic 66393 rs59308628 2:220286147-220286147 2:219421425-219421425
42 DES NM_001927.4(DES):c.1034T>C (p.Leu345Pro) SNV Pathogenic 16825 rs57639980 2:220286072-220286072 2:219421350-219421350
43 DES NM_001927.4(DES):c.322G>T (p.Glu108Ter) SNV Pathogenic 804737 rs62636490 2:220283506-220283506 2:219418784-219418784
44 DES NM_001927.4(DES):c.1285C>T (p.Arg429Ter) SNV Pathogenic 177872 rs150974575 2:220288539-220288539 2:219423817-219423817
45 DES NM_001927.4(DES):c.35C>T (p.Ser12Phe) SNV Pathogenic 66412 rs267607495 2:220283219-220283219 2:219418497-219418497
46 DES NM_001927.4(DES):c.735+1G>A SNV Pathogenic 44268 rs397516698 2:220285069-220285069 2:219420347-219420347
47 DES NM_001927.4(DES):c.735+3A>G SNV Pathogenic 66419 rs267607483 2:220285071-220285071 2:219420349-219420349
48 DES NM_001927.4(DES):c.1048C>T (p.Arg350Trp) SNV Pathogenic 44244 rs62636492 2:220286086-220286086 2:219421364-219421364
49 DES NM_001927.4(DES):c.1216C>T (p.Arg406Trp) SNV Pathogenic/Likely pathogenic 16826 rs121913003 2:220286254-220286254 2:219421532-219421532
50 DES NM_001927.4(DES):c.1285C>T (p.Arg429Ter) SNV Likely pathogenic 177872 rs150974575 2:220288539-220288539 2:219423817-219423817

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

Sources

Expression for Myopathy, Myofibrillar, 1

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

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

# Super pathways Score Top Affiliating Genes
1
Cytoskeletal Signaling 4
12.05 PLEC LMNA FLNC DES
2
Dilated cardiomyopathy 36
Show member pathways
 11.53 TTN LMNA DMD DES
3
Cytoskeleton remodeling Neurofilaments 23
Show member pathways
 11.37 SYNM PLEC DES
4
Striated Muscle Contraction 65 1
10.78 TTN NEB DMD DES
Sources

GO Terms for Myopathy, Myofibrillar, 1

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.34 TTN RPS27A PLEC MYPN MYOT FLNC
2 cytoplasm GO:0005737 10.31 TTN SYNM SYNC RPS27A PLEC NEB
3 cytosol GO:0005829 10.28 TTN SYNC RPS27A PLEC NEB LMNA
4 cytoskeleton GO:0005856 10.06 SYNM PLEC NEB MYOT LDB3 FLNC
5 perinuclear region of cytoplasm GO:0048471 9.99 SYNC PLEC LMNA LDB3 DNAJB6 DMD
6 intermediate filament GO:0005882 9.72 SYNM SYNC PLEC LMNA DES
7 stress fiber GO:0001725 9.71 XIRP2 LDB3 BAG3
8 intermediate filament cytoskeleton GO:0045111 9.67 SYNM PLEC DES
9 myofibril GO:0030016 9.65 NEB DMD CAPN3
10 costamere GO:0043034 9.56 SYNM PLEC FLNC DMD
11 sarcoplasm GO:0016528 9.55 PLEC FLNC
12 I band GO:0031674 9.54 TTN MYPN CRYAB
13 cardiac myofibril GO:0097512 9.52 DES CRYAB
14 sarcolemma GO:0042383 9.5 SYNM SYNC PLEC MYOT FLNC DMD
15 Z disc GO:0030018 9.47 XIRP2 TTN SYNC NEB MYPN MYOT
16 contractile fiber GO:0043292 9.46 PLEC NEB DES CRYAB

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.67 TTN MYOT DES CRYAB
2 regulation of cellular response to heat GO:1900034 9.58 DNAJB6 CRYAB BAG3
3 muscle cell cellular homeostasis GO:0046716 9.5 DMD CAPN3 BAG3
4 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.49 SELENON DMD
5 intermediate filament organization GO:0045109 9.48 DNAJB6 DES
6 cardiac muscle tissue morphogenesis GO:0055008 9.46 XIRP2 TTN
7 muscle filament sliding GO:0030049 9.46 TTN NEB DMD DES
8 muscle structure development GO:0061061 9.43 LDB3 CAPN3
9 muscle fiber development GO:0048747 9.43 NEB FLNC DMD
10 sarcomere organization GO:0045214 9.26 TTN MYPN LDB3 CAPN3
11 muscle organ development GO:0007517 9.02 NEB LMNA DMD CRYAB CAPN3

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 10.02 TTN LMNA FLNC DNAJB6 DES CRYAB
2 actin binding GO:0003779 9.76 XIRP2 PLEC NEB MYPN MYOT LDB3
3 actin filament binding GO:0051015 9.67 XIRP2 TTN NEB DMD
4 structural constituent of cytoskeleton GO:0005200 9.62 SYNM PLEC DMD DES
5 ankyrin binding GO:0030506 9.46 PLEC FLNC
6 alpha-actinin binding GO:0051393 9.43 XIRP2 MYOT
7 muscle alpha-actinin binding GO:0051371 9.43 TTN MYPN LDB3
8 cytoskeletal protein binding GO:0008092 9.43 PLEC MYPN LDB3 FLNC DES CRYAB
9 vinculin binding GO:0017166 9.4 SYNM DMD
10 structural constituent of muscle GO:0008307 9.17 TTN SYNM PLEC NEB MYOT DMD
Sources

Sources for Myopathy, Myofibrillar, 1

About this section
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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
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
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