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MFM1
MCID: MYP072
MIFTS: 52

Myopathy, Myofibrillar, 1 (MFM1)

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

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MalaCards integrated aliases for Myopathy, Myofibrillar, 1:

Name: Myopathy, Myofibrillar, 1 56 73 13
Myofibrillar Myopathy 1 12 29 6 15
Muscular Dystrophy, Limb-Girdle, Type 2r 73 29 6
Desmin-Related Myopathy 56 73 54
Desmin-Related Myopathy with Arrhythmogenic Right Ventricular Cardiomyopathy 56 73
Myofibrillar Myopathy with Arrhythmogenic Right Ventricular Cardiomyopathy 56 73
Arrhythmogenic Right Ventricular Dysplasia, Familial, 7 29 71
Myopathy, Myofibrillar, Desmin-Related 56 71
Desmin-Related Myofibrillar Myopathy 74 58
Desminopathy 12 58
Mfm1 56 73
Drm 56 73
Cardiomyopathy, Dilated, with Conduction Defect and Muscular Dystrophy; Cdcd3, Formerly 56
Arrhythmogenic Right Ventricular Dysplasia, Familial, 7, Formerly; Arvd7, Formerly 56
Cardiomyopathy, Dilated, 1f and Limb-Girdle Muscular Dystrophy Type 1d, Formerly 56
Arrhythmogenic Right Ventricular Cardiomyopathy 7, Formerly; Arvc7, Formerly 56
Inclusion Body Myopathy 1, Autosomal Dominant, Formerly; Ibm1, Formerly 56
Cardiomyopathy, Dilated, with Conduction Defect and Muscular Dystrophy 56
Muscular Dystrophy, Limb-Girdle, Type 2r, Formerly; Lgmd2r, Formerly 56
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 56
Arrhythmogenic Right Ventricular Cardiomyopathy 7, Formerly 56
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r 12
Inclusion Body Myopathy 1, Autosomal Dominant, Formerly 56
Familial Arrhythmogenic Right Ventricular Dysplasia 7 73
Muscular Dystrophy, Limb-Girdle, Type 2r, Formerly 56
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 56
Cmd1f and Lgmd1d, Formerly 56
Desminopathy, Primary 56
Desminopathy Primary 73
Mfm Desmin-Related 73
Lgmd2r, Formerly 56
Cmd1f and Lgmd1d 73
Arvd7, Formerly 56
Arvc7, Formerly 56
Cdcd3, Formerly 56
Ibm1, Formerly 56
Lgmd2r 73
Arvc7 73
Arvd7 73
Cdcd3 73

Characteristics:

OMIM:

56
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 phenotypic variability


Classifications:

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


External Ids:

Disease Ontology 12 DOID:0080092
OMIM 56 601419
OMIM Phenotypic Series 56 PS601419
MeSH 43 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, myofibrillar, 6, and has symptoms including facial paresis An important gene associated with Myopathy, Myofibrillar, 1 is DES (Desmin), and among its related pathways/superpathways are Cytoskeleton remodeling Neurofilaments and Striated Muscle Contraction. Affiliated tissues include skeletal muscle, heart and smooth muscle, and related phenotypes are axial muscle weakness and distal lower limb 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 : 56 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)

Wikipedia : 74 Desmin-related myofibrillar myopathy is a subgroup of the myofibrillar myopathy diseases and is the... more...

Sources

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

Diseases related to Myopathy, Myofibrillar, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 105)
# Related Disease Score Top Affiliating Genes
1 rigid spine muscular dystrophy 1 31.9 TTN SELENON MYOT DMD BAG3
2 myopathy, myofibrillar, 6 31.6 MYOT LDB3 FLNC CRYAB BAG3
3 myopathy, myofibrillar, 2 31.2 PLEC MYOT LDB3 FLNC CRYAB BAG3
4 cytoplasmic body myopathy 30.5 DMD DES
5 myopathy, spheroid body 30.4 NEBL NEB MYPN MYOT LDB3 FLNC
6 atrioventricular block 30.4 TTN DES CRYAB
7 myopathy, myofibrillar, 3 30.2 TTN SYNC MYPN MYOT LDB3 FLNC
8 atrial standstill 1 30.0 TTN MYOT DMD DES CRYAB
9 limb-girdle muscular dystrophy 29.9 TTN PLEC MYOT DMD
10 miyoshi muscular dystrophy 29.8 TTN MYOT DMD DES
11 neuromuscular disease 29.6 TTN SYNC MYOT DMD DES CRYAB
12 arrhythmogenic right ventricular cardiomyopathy 29.5 TTN PLEC MYPN LDB3 DMD DES
13 autosomal recessive limb-girdle muscular dystrophy 29.4 TTN PLEC MYOT DMD DES
14 respiratory failure 29.2 TTN SELENON MYPN DMD
15 restrictive cardiomyopathy 29.0 TTN MYPN FLNC DMD DES CRYAB
16 hypertrophic cardiomyopathy 28.6 TTN MYPN LDB3 FLNC DMD DES
17 myopathy 28.0 TTN SELENON NEB MYPN MYOT LDB3
18 muscular dystrophy 27.7 TTN SYNC SELENON PLEC NEB MYOT
19 myopathy, myofibrillar, 5 27.7 XIRP2 TTN SYNC NRAP MYOT LDB3
20 muscular disease 27.6 TTN SELENON PLEC NEB MYOT LDB3
21 myofibrillar myopathy 26.8 XIRP2 TTN SYNM SYNC SELENON PLEC
22 dilated cardiomyopathy 26.7 TTN PLEC NRAP NEBL MYPN MYOT
23 myopathy, myofibrillar, 9, with early respiratory failure 11.2
24 myopathy, myofibrillar, 7 11.2
25 myopathy, myofibrillar, 8 11.2
26 gastrointestinal stromal tumor 10.5
27 sick sinus syndrome 10.4
28 epithelial basement membrane dystrophy 10.3 SYNC PLEC
29 autosomal recessive limb-girdle muscular dystrophy type 2h 10.3 MYOT DCAF8
30 extracardiac rhabdomyoma 10.3 DMD DES
31 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.3 TTN LDB3
32 muscular dystrophy-dystroglycanopathy , type c, 4 10.2 MYOT DCAF8
33 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.2 TTN LDB3
34 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.2 TTN LDB3
35 autosomal recessive limb-girdle muscular dystrophy type 2q 10.2 SYNC PLEC MYOT
36 autosomal recessive limb-girdle muscular dystrophy type 2j 10.2 TTN MYOT
37 foot drop 10.2 TTN NEB
38 microcolon 10.2 DMD DES
39 autosomal dominant limb-girdle muscular dystrophy 10.2 MYOT FLNC BAG3
40 cardiomyopathy, dilated, 1dd 10.2 TTN LDB3
41 central core myopathy 10.2 SELENON NEB DCAF8
42 coloboma of macula 10.2
43 retinoblastoma 10.2
44 microphthalmia 10.2
45 amnestic disorder 10.2
46 diphtheria 10.2
47 familial retinoblastoma 10.2
48 epidermolysis bullosa simplex with muscular dystrophy 10.2 SYNM SYNC PLEC
49 corticobasal degeneration 10.2 RPS27A CRYAB
50 autosomal recessive limb-girdle muscular dystrophy type 2g 10.1 TTN MYOT DCAF8

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



Diseases related to Myopathy, Myofibrillar, 1
Sources

Symptoms & Phenotypes for Myopathy, Myofibrillar, 1

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Human phenotypes related to Myopathy, Myofibrillar, 1:

58 31 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 axial muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0003327
2 distal lower limb muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0009053
3 progressive muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0003323
4 atrioventricular block 58 31 frequent (33%) Frequent (79-30%) HP:0001678
5 respiratory insufficiency due to muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0002747
6 congestive heart failure 58 31 frequent (33%) Frequent (79-30%) HP:0001635
7 supraventricular arrhythmia 58 31 frequent (33%) Frequent (79-30%) HP:0005115
8 fatigable weakness of respiratory muscles 58 31 frequent (33%) Frequent (79-30%) HP:0030196
9 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
10 loss of ability to walk 58 31 frequent (33%) Frequent (79-30%) HP:0006957
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 areflexia of lower limbs 58 31 occasional (7.5%) Occasional (29-5%) HP:0002522
14 fatigable weakness of bulbar muscles 58 31 occasional (7.5%) Occasional (29-5%) HP:0030192
15 neck flexor weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0003722
16 thoracic kyphoscoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0005659
17 weakness of facial musculature 58 31 occasional (7.5%) Occasional (29-5%) HP:0030319
18 right ventricular cardiomyopathy 31 occasional (7.5%) HP:0011663
19 spinal rigidity 58 31 very rare (1%) Very rare (<4-1%) HP:0003306
20 hypertrophic cardiomyopathy 31 very rare (1%) HP:0001639
21 dilated cardiomyopathy 31 very rare (1%) HP:0001644
22 third degree atrioventricular block 31 very rare (1%) HP:0001709
23 bradycardia 31 very rare (1%) HP:0001662
24 restrictive cardiomyopathy 31 very rare (1%) HP:0001723
25 constipation 31 HP:0002019
26 facial palsy 31 HP:0010628
27 emg: myopathic abnormalities 31 HP:0003458
28 diarrhea 31 HP:0002014
29 late-onset proximal muscle weakness 31 HP:0003694
30 neck muscle weakness 31 HP:0000467
31 distal muscle weakness 31 HP:0002460
32 bulbar palsy 31 HP:0001283
33 hyporeflexia of lower limbs 31 HP:0002600

Symptoms via clinical synopsis from OMIM:

56
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

UMLS symptoms related to Myopathy, Myofibrillar, 1:


facial paresis

MGI Mouse Phenotypes related to Myopathy, Myofibrillar, 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.07 BAG3 CRYAB DES DMD FLNC LDB3
2 cardiovascular system MP:0005385 9.9 BAG3 DES DMD FLNC LDB3 MYPN
3 homeostasis/metabolism MP:0005376 9.73 BAG3 CRYAB DES DMD FLNC LDB3
4 muscle MP:0005369 9.47 BAG3 CRYAB DES DMD FLNC LDB3
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

About this section

Articles related to Myopathy, Myofibrillar, 1:

(show top 50) (show all 69)
# Title Authors PMID Year
1
Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy. 54 56 6
14648196 2004
2
A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation. 54 56 6
10545598 1999
3
Missense mutations in desmin associated with familial cardiac and skeletal myopathy. 54 56 6
9697706 1998
4
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 56 6
30055862 2018
5
A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies. 56 6
23687351 2013
6
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation. 56 6
22395865 2012
7
Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics. 56 6
22275259 2012
8
Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks. 56 6
20423733 2010
9
Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene. 56 6
19879535 2009
10
Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin. 56 6
19433360 2009
11
Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family. 56 6
18061454 2008
12
Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene. 56 6
17720647 2007
13
Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies. 56 6
17221859 2007
14
Desmin splice variants causing cardiac and skeletal myopathy. 56 6
11073539 2000
15
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q. 56 6
10970245 1999
16
A dysfunctional desmin mutation in a patient with severe generalized myopathy. 56 6
9736733 1998
17
Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23. 56 6
9382102 1997
18
Desmin myopathy: a multisystem disorder involving skeletal, cardiac, and smooth muscle. 56 6
7672786 1995
19
Autosomal dominant distal myopathy with desmin storage: a clinicopathologic and electrophysiologic study of a large kinship. 56 6
8114783 1994
20
Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene. 54 56
15122708 2004
21
Structural and functional analysis of a new desmin variant causing desmin-related myopathy. 54 6
11668632 2001
22
Restrictive cardiomyopathy due to novel desmin gene mutation. 56
28703267 2017
23
Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. 6
25313375 2014
24
Diagnostic challenge in desmin cardiomyopathy with transformation of clinical phenotypes. 56
22484823 2013
25
BAG3-related myofibrillar myopathy in a Chinese family. 6
21361913 2012
26
Desmin-related myopathy. 56
20718792 2011
27
Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3. 56
18197198 2008
28
Dilated Cardiomyopathy Overview 6
20301486 2007
29
Myofibrillar Myopathy 6
20301672 2005
30
Myofibrillar myopathy with desmin accumulation in a young Australian Shepherd dog. 56
15210162 2004
31
Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients. 56
14711882 2004
32
On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria. 6
12620971 2003
33
The 105th ENMC sponsored workshop: pathogenesis in the non-sarcoglycan limb-girdle muscular dystrophies, Naarden, April 12-14, 2002. 56
12467737 2003
34
A novel de novo mutation in the desmin gene causes desmin myopathy with toxic aggregates. 6
11061256 2000
35
Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation. 6
10905661 2000
36
Linkage of hereditary distal myopathy with desmin accumulation to 2q. 56
10686494 2000
37
Overview of distal myopathies: from the clinical to the molecular. 56
9673984 1998
38
Desmin-related neuromuscular disorders. 56
7565929 1995
39
Dominantly inherited cytoplasmic body myopathy in a Japanese kindred. 56
8122252 1993
40
Familial desminopathy: myopathy with accumulation of desmin-type intermediate filaments. 56
8509778 1993
41
[Familial myopathy with "cytoplasmic body" (or "spheroid") type inclusions, disclosed by respiratory insufficiency]. 56
2552561 1989
42
Slowly progressive congenital myopathy with cytoplasmic bodies--report of two cases and a review of the literature. 56
6301720 1982
43
An unusual familial cardiomyopathy characterized by aberrant accumulations of desmin-type intermediate filaments. 56
6889780 1981
44
A new type of hereditary distal myopathy with characteristic sarcoplasmic bodies and intermediate (skeletin) filaments. 56
6251174 1980
45
Unusual familial cardiomyopathy with storage of intermediate filaments in the cardiac muscular cells. 56
7405006 1980
46
A myopathy-linked desmin mutation perturbs striated muscle actin filament architecture. 54
19005210 2009
47
Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene. 54
16779558 2006
48
Alpha B-crystallin mutation in dilated cardiomyopathy. 54
16483541 2006
49
Alternative protein secretion: the Mam1 ABC transporter supports secretion of M-factor linked GFP in fission yeast. 61
16288715 2005
50
Desmin-related myopathy: report of a rare case. 54
16010068 2005
Sources

Variations for Myopathy, Myofibrillar, 1

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ClinVar genetic disease variations for Myopathy, Myofibrillar, 1:

6 (show top 50) (show all 190) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DES NM_001927.4(DES):c.639+4_639+5deldeletion Pathogenic 180206 rs730880289 2:220284880-220284881 2:219420158-219420159
2 DES DES, 3-BP DEL, 720GAAinsertion Pathogenic 16833
3 DES NM_001927.4(DES):c.1009G>C (p.Ala337Pro)SNV Pathogenic 16820 rs59962885 2:220285661-220285661 2:219420939-219420939
4 DES NM_001927.4(DES):c.1078G>C (p.Ala360Pro)SNV Pathogenic 16821 rs121913000 2:220286116-220286116 2:219421394-219421394
5 DES NM_001927.4(DES):c.1178A>T (p.Asn393Ile)SNV Pathogenic 16822 rs121913001 2:220286216-220286216 2:219421494-219421494
6 DES NM_001927.4(DES):c.521_541del (p.Ala174_Arg180del)deletion Pathogenic 16823 rs60538473 2:220283699-220283719 2:219418977-219418997
7 DES DES, IVS3DS, A-G, +3SNV Pathogenic 16827
8 DES DES, IVS2, G-A, -1SNV Pathogenic 16828
9 DES NM_001927.4(DES):c.1154T>C (p.Leu385Pro)SNV Pathogenic 16829 rs57955682 2:220286192-220286192 2:219421470-219421470
10 DES NM_001927.4(DES):c.1166A>C (p.Gln389Pro)SNV Pathogenic 16830 rs121913004 2:220286204-220286204 2:219421482-219421482
11 DES DES, GLU359-ALA360-SER361 DELdeletion Pathogenic 16831
12 DES NM_001927.4(DES):c.1094_1096ACA[1] (p.Asn366del)short repeat Pathogenic 16832 rs58687088 2:220286132-220286134 2:219421410-219421412
13 DES NM_001927.4(DES):c.1325C>T (p.Thr442Ile)SNV Pathogenic 16834 rs121913005 2:220290421-220290421 2:219425699-219425699
14 DES NM_001927.4(DES):c.1049G>C (p.Arg350Pro)SNV Pathogenic 16835 rs57965306 2:220286087-220286087 2:219421365-219421365
15 DES NM_001927.4(DES):c.1034T>C (p.Leu345Pro)SNV Pathogenic 16825 rs57639980 2:220286072-220286072 2:219421350-219421350
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.1289-2A>GSNV Pathogenic 56823 rs398122940 2:220290383-220290383 2:219425661-219425661
18 DES NM_001927.4(DES):c.1024A>G (p.Asn342Asp)SNV Pathogenic 66388 rs267607482 2:220286062-220286062 2:219421340-219421340
19 DES NM_001927.4(DES):c.735+3A>GSNV Pathogenic 66419 rs267607483 2:220285071-220285071 2:219420349-219420349
20 DES NM_001927.4(DES):c.373A>T (p.Lys125Ter)SNV Pathogenic 285007 rs886043000 2:220283557-220283557 2:219418835-219418835
21 DES NM_001927.4(DES):c.1213del (p.Tyr405fs)deletion Pathogenic 285337 rs886043080 2:220286251-220286251 2:219421529-219421529
22 DES NM_001927.4(DES):c.394C>T (p.Gln132Ter)SNV Pathogenic 411124 rs1060503165 2:220283578-220283578 2:219418856-219418856
23 DES NM_001927.4(DES):c.1255_1271del (p.Pro419fs)deletion Pathogenic 522796 rs1553603732 2:220288506-220288522 2:219423784-219423800
24 covers 41 genes, none of which curated to show dosage sensitivity NC_000002.11:g.(?_219135239)_(220290732_?)deldeletion Pathogenic 583449 2:219135239-220290732
25 DES NM_001927.4(DES):c.336_344del (p.Gln113_Leu115del)deletion Pathogenic 548445 rs1553603239 2:220283514-220283522 2:219418792-219418800
26 DES NM_001927.4(DES):c.514C>T (p.Gln172Ter)SNV Pathogenic 575355 rs1559352440 2:220283698-220283698 2:219418976-219418976
27 DES NM_001927.4(DES):c.1043A>C (p.Gln348Pro)SNV Pathogenic 617786 rs1411703397 2:220286081-220286081 2:219421359-219421359
28 DES NM_001927.4(DES):c.226del (p.Thr76fs)deletion Pathogenic 643624 2:220283410-220283410 2:219418688-219418688
29 DES NM_001927.4(DES):c.1132_1153del (p.Lys378fs)deletion Pathogenic 641138 2:220286168-220286189 2:219421446-219421467
30 DES NM_001927.4(DES):c.1237G>T (p.Glu413Ter)SNV Pathogenic 639669 2:220286275-220286275 2:219421553-219421553
31 DES NM_001927.4(DES):c.1091_1108del (p.Gln364_Arg369del)deletion Pathogenic 801900 2:220286127-220286144 2:219421405-219421422
32 DES NM_001927.4(DES):c.1237G>A (p.Glu413Lys)SNV Pathogenic/Likely pathogenic 66398 rs61726467 2:220286275-220286275 2:219421553-219421553
33 DES NM_001927.4(DES):c.1360C>T (p.Arg454Trp)SNV Pathogenic/Likely pathogenic 66402 rs267607490 2:220290456-220290456 2:219425734-219425734
34 DES NM_001927.4(DES):c.1013T>G (p.Leu338Arg)SNV Pathogenic/Likely pathogenic 66387 rs57496341 2:220285665-220285665 2:219420943-219420943
35 DES NM_001927.4(DES):c.735+1G>ASNV Pathogenic/Likely pathogenic 44268 rs397516698 2:220285069-220285069 2:219420347-219420347
36 DES NM_001927.4(DES):c.1216C>T (p.Arg406Trp)SNV Pathogenic/Likely pathogenic 16826 rs121913003 2:220286254-220286254 2:219421532-219421532
37 DES NM_001927.4(DES):c.1255C>T (p.Pro419Ser)SNV Pathogenic/Likely pathogenic 39718 rs62635763 2:220288509-220288509 2:219423787-219423787
38 DES NM_001927.4(DES):c.1285C>T (p.Arg429Ter)SNV Pathogenic/Likely pathogenic 177872 rs150974575 2:220288539-220288539 2:219423817-219423817
39 DES NM_001927.4(DES):c.735+1G>CSNV Likely pathogenic 163027 rs397516698 2:220285069-220285069 2:219420347-219420347
40 DES NM_001927.4(DES):c.347A>G (p.Asn116Ser)SNV Likely pathogenic 66411 rs267607499 2:220283531-220283531 2:219418809-219418809
41 DES NM_001927.4(DES):c.1195G>T (p.Asp399Tyr)SNV Likely pathogenic 66396 rs61130669 2:220286233-220286233 2:219421511-219421511
42 DES NM_001927.4(DES):c.1151A>G (p.His384Arg)SNV Likely pathogenic 522692 rs1553603566 2:220286189-220286189 2:219421467-219421467
43 DES NM_001927.4(DES):c.735+1G>TSNV Likely pathogenic 578016 rs397516698 2:220285069-220285069 2:219420347-219420347
44 DES NM_001927.4(DES):c.1A>G (p.Met1Val)SNV Likely pathogenic 388926 rs1057523274 2:220283185-220283185 2:219418463-219418463
45 DES NM_001927.4(DES):c.1288+1G>ASNV Likely pathogenic 639517 2:220288543-220288543 2:219423821-219423821
46 DES NM_001927.4(DES):c.1158C>T (p.Arg386=)SNV Conflicting interpretations of pathogenicity 285963 rs774323736 2:220286196-220286196 2:219421474-219421474
47 DES NM_001927.4(DES):c.1411T>C (p.Ter471Gln)SNV Conflicting interpretations of pathogenicity 290014 rs886044329 2:220290710-220290710 2:219425988-219425988
48 DES NM_001927.4(DES):c.924C>T (p.Asn308=)SNV Conflicting interpretations of pathogenicity 283467 rs578191306 2:220285576-220285576 2:219420854-219420854
49 DES NM_001927.4(DES):c.1257C>T (p.Pro419=)SNV Conflicting interpretations of pathogenicity 384758 rs143154982 2:220288511-220288511 2:219423789-219423789
50 DES NM_001927.4(DES):c.999C>T (p.Cys333=)SNV Conflicting interpretations of pathogenicity 508184 rs1157722667 2:220285651-220285651 2:219420929-219420929

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
Cytoskeleton remodeling Neurofilaments 22
Show member pathways
 11.17 SYNM PLEC DES
2
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 17)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.28 TTN SYNM RPS27A PLEC NEBL NEB
2 cytoskeleton GO:0005856 10.03 SYNM PLEC NEB MYOT LDB3 FLNC
3 axon GO:0030424 9.87 MYPN MYOT DMD CRYAB
4 intermediate filament GO:0005882 9.81 SYNM SYNC PLEC DES
5 sarcomere GO:0030017 9.7 TTN NEB MYPN
6 stress fiber GO:0001725 9.67 XIRP2 NEBL LDB3 BAG3
7 intermediate filament cytoskeleton GO:0045111 9.65 SYNM PLEC DES
8 myofibril GO:0030016 9.63 NRAP NEB DMD
9 I band GO:0031674 9.62 TTN NEBL MYPN CRYAB
10 M band GO:0031430 9.56 TTN CRYAB
11 costamere GO:0043034 9.56 SYNM PLEC FLNC DMD
12 sarcoplasm GO:0016528 9.55 PLEC FLNC
13 fascia adherens GO:0005916 9.54 NRAP DES
14 sarcolemma GO:0042383 9.5 SYNM SYNC PLEC MYOT FLNC DMD
15 cardiac myofibril GO:0097512 9.49 DES CRYAB
16 Z disc GO:0030018 9.47 XIRP2 TTN SYNC NRAP NEBL NEB
17 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 organ development GO:0007517 9.58 NEB DMD CRYAB
2 muscle contraction GO:0006936 9.56 TTN MYOT DES CRYAB
3 sarcomere organization GO:0045214 9.5 TTN MYPN LDB3
4 stress-activated MAPK cascade GO:0051403 9.49 RPS27A CRYAB
5 intermediate filament cytoskeleton organization GO:0045104 9.48 SYNM PLEC
6 muscle cell cellular homeostasis GO:0046716 9.46 DMD BAG3
7 muscle filament sliding GO:0030049 9.46 TTN NEB DMD DES
8 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.43 SELENON DMD
9 cardiac muscle tissue morphogenesis GO:0055008 9.37 XIRP2 TTN
10 cardiac muscle thin filament assembly GO:0071691 9.13 NRAP NEBL NEB
11 muscle fiber development GO:0048747 9.02 NRAP NEBL NEB FLNC DMD

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.36 TTN SYNM SELENON RPS27A PLEC NRAP
2 actin binding GO:0003779 9.81 XIRP2 PLEC NRAP NEBL MYPN MYOT
3 actin filament binding GO:0051015 9.77 XIRP2 TTN NRAP NEBL NEB
4 structural constituent of cytoskeleton GO:0005200 9.71 SYNM PLEC DMD DES
5 muscle alpha-actinin binding GO:0051371 9.56 TTN NRAP MYPN LDB3
6 vinculin binding GO:0017166 9.5 SYNM NRAP DMD
7 cytoskeletal protein binding GO:0008092 9.5 PLEC NEBL MYPN LDB3 FLNC DES
8 ankyrin binding GO:0030506 9.48 PLEC FLNC
9 alpha-actinin binding GO:0051393 9.46 XIRP2 MYOT
10 structural constituent of muscle GO:0008307 9.17 TTN SYNM PLEC NEBL NEB MYOT
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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
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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