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MFM1
MCID: MYP072
MIFTS: 49

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 57 74 13
Myofibrillar Myopathy 1 12 29 6 15
Muscular Dystrophy, Limb-Girdle, Type 2r 74 29 6
Desmin-Related Myopathy 57 74 55
Desmin-Related Myopathy with Arrhythmogenic Right Ventricular Cardiomyopathy 57 74
Myofibrillar Myopathy with Arrhythmogenic Right Ventricular Cardiomyopathy 57 74
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r 12 59
Arrhythmogenic Right Ventricular Dysplasia, Familial, 7 29 72
Myopathy, Myofibrillar, Desmin-Related 57 72
Desmin-Related Myofibrillar Myopathy 75 59
Desminopathy 12 59
Lgmd2r 59 74
Mfm1 57 74
Drm 57 74
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
Autosomal Recessive Limb-Girdle Muscular Dystrophy Due to Desmin Deficiency 59
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 74
Dilated Cardiomyopathy with Conduction Defect and Muscular Dystrophy 74
Arrhythmogenic Right Ventricular Dysplasia, Familial, 7, Formerly 57
Arrhythmogenic Right Ventricular Cardiomyopathy 7, Formerly 57
Inclusion Body Myopathy 1, Autosomal Dominant, Formerly 57
Familial Arrhythmogenic Right Ventricular Dysplasia 7 74
Muscular Dystrophy, Limb-Girdle, Type 2r, Formerly 57
Arrhythmogenic Right Ventricular Cardiomyopathy 7 74
Autosomal Dominant Inclusion Body Myopathy 1 74
Dystrophy, Muscular, Limb-Girdle, Type 2r 40
Myopathy Myofibrillar Desmin-Related 74
Limb-Girdle Muscular Dystrophy 2r 74
Desmin-Related Myopathy; Drm 57
Cmd1f and Lgmd1d, Formerly 57
Desminopathy, Primary 57
Desminopathy Primary 74
Mfm Desmin-Related 74
Lgmd2r, Formerly 57
Cmd1f and Lgmd1d 74
Arvd7, Formerly 57
Arvc7, Formerly 57
Cdcd3, Formerly 57
Ibm1, Formerly 57
Arvc7 74
Arvd7 74
Cdcd3 74

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive limb-girdle muscular dystrophy type 2r
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM:

57
Inheritance:
autosomal recessive
autosomal dominant

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


HPO:

32
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: 33 34
Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0080092
MeSH 44 D020914
ICD10 33 G71.0
ICD10 via Orphanet 34 G71.0 G71.8
UMLS via Orphanet 73 C1832370
MedGen 42 C1832370
UMLS 72 C1832370 C1836704
Sources

Summaries for Myopathy, Myofibrillar, 1

About this section
UniProtKB/Swiss-Prot : 74 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 myopathy, myofibrillar, 3 and myopathy, myofibrillar, 2, and has symptoms including facial paresis An important gene associated with Myopathy, Myofibrillar, 1 is DES (Desmin), and among its related pathways/superpathways is 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 : 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)

Wikipedia : 75 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 63)
# Related Disease Score Top Affiliating Genes
1 myopathy, myofibrillar, 3 31.4 MYOT LDB3
2 myopathy, myofibrillar, 2 31.0 MYOT LDB3 CRYAB
3 myopathy, spheroid body 30.5 MYOT LDB3 DES CRYAB
4 restrictive cardiomyopathy 30.3 DES CRYAB
5 atrial standstill 1 30.1 MYOT DES
6 neuromuscular disease 29.9 SYNC MYOT DES
7 myofibrillar myopathy 29.7 SYNC NEB MYOT LDB3 DES CRYAB
8 muscular dystrophy 29.4 SELENON NEB MYOT DES
9 myopathy 28.6 SELENON NEB MYOT LDB3 DES CRYAB
10 muscular disease 28.5 SELENON NEB MYOT LDB3
11 rigid spine muscular dystrophy 1 11.7
12 myopathy, myofibrillar, 9, with early respiratory failure 11.2
13 myopathy, myofibrillar, 6 11.2
14 myopathy, myofibrillar, 7 11.2
15 myopathy, myofibrillar, 8 11.2
16 arrhythmogenic right ventricular cardiomyopathy 10.6
17 gastrointestinal stromal tumor 10.5
18 sick sinus syndrome 10.4
19 dilated cardiomyopathy 10.2
20 limb-girdle muscular dystrophy 10.2
21 cardioneuromyopathy with hyaline masses and nemaline rods 10.2 NEB DES
22 muscular dystrophy, limb-girdle, autosomal dominant 1 10.2 MYOT DES
23 reducing body myopathy 10.2 NEB DES
24 coloboma of macula 10.2
25 retinoblastoma 10.2
26 pulmonary alveolar microlithiasis 10.2
27 microphthalmia 10.2
28 amnestic disorder 10.2
29 diphtheria 10.2
30 familial retinoblastoma 10.2
31 cardiac conduction defect 10.1
32 myopathy, myofibrillar, fatal infantile hypertonic, alpha-b crystallin-related 10.1
33 atrioventricular block 10.1
34 miyoshi muscular dystrophy 10.1
35 myopia 10.1
36 mitochondrial myopathy 10.1
37 cataract 10.1
38 lmna-related dilated cardiomyopathy 10.1
39 cytoplasmic body myopathy 10.1
40 multiminicore disease 10.1
41 rigid spine muscular dystrophy 10.1
42 corticobasal degeneration 10.1 RPS27A CRYAB
43 cardiac arrhythmia 10.1
44 myopathy, x-linked, with excessive autophagy 10.1
45 myopathy, myofibrillar, 5 10.1
46 ptosis 10.1
47 autosomal recessive limb-girdle muscular dystrophy 10.1
48 respiratory failure 10.1
49 cholera 10.1
50 nemaline myopathy 10.1

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:

59 32 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 axial muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0003327
2 distal lower limb muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0009053
3 progressive muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0003323
4 atrioventricular block 59 32 frequent (33%) Frequent (79-30%) HP:0001678
5 respiratory insufficiency due to muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0002747
6 congestive heart failure 59 32 frequent (33%) Frequent (79-30%) HP:0001635
7 supraventricular arrhythmia 59 32 frequent (33%) Frequent (79-30%) HP:0005115
8 fatigable weakness of respiratory muscles 59 32 frequent (33%) Frequent (79-30%) HP:0030196
9 difficulty walking 59 32 frequent (33%) Frequent (79-30%) HP:0002355
10 loss of ability to walk 59 32 frequent (33%) Frequent (79-30%) HP:0006957
11 concentric hypertrophic cardiomyopathy 59 32 frequent (33%) Frequent (79-30%) HP:0005157
12 sudden cardiac death 59 32 occasional (7.5%) Occasional (29-5%) HP:0001645
13 areflexia of lower limbs 59 32 occasional (7.5%) Occasional (29-5%) HP:0002522
14 fatigable weakness of bulbar muscles 59 32 occasional (7.5%) Occasional (29-5%) HP:0030192
15 neck flexor weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0003722
16 thoracic kyphoscoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0005659
17 weakness of facial musculature 59 32 occasional (7.5%) Occasional (29-5%) HP:0030319
18 right ventricular cardiomyopathy 32 occasional (7.5%) HP:0011663
19 spinal rigidity 59 32 very rare (1%) Very rare (<4-1%) HP:0003306
20 hypertrophic cardiomyopathy 32 very rare (1%) HP:0001639
21 dilated cardiomyopathy 32 very rare (1%) HP:0001644
22 third degree atrioventricular block 32 very rare (1%) HP:0001709
23 bradycardia 32 very rare (1%) HP:0001662
24 restrictive cardiomyopathy 32 very rare (1%) HP:0001723
25 constipation 32 HP:0002019
26 facial palsy 32 HP:0010628
27 emg: myopathic abnormalities 32 HP:0003458
28 diarrhea 32 HP:0002014
29 late-onset proximal muscle weakness 32 HP:0003694
30 neck muscle weakness 32 HP:0000467
31 distal muscle weakness 32 HP:0002460
32 bulbar palsy 32 HP:0001283
33 hyporeflexia of lower limbs 32 HP:0002600

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
hypertrophic cardiomyopathy
dilated cardiomyopathy
restrictive heart failure
arrhythmias
conduction abnormalities

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.1 CRYAB DES LDB3 NEB SELENON SYNC
Sources

Drugs & Therapeutics for Myopathy, Myofibrillar, 1

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

Sources

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

About this section

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

41
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 66)
# Title Authors PMID Year
1
Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy. 9 8 71
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. 9 8 71
10545598 1999
3
Missense mutations in desmin associated with familial cardiac and skeletal myopathy. 9 8 71
9697706 1998
4
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 8 71
30055862 2018
5
A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies. 8 71
23687351 2013
6
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation. 8 71
22395865 2012
7
Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics. 8 71
22275259 2012
8
Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks. 8 71
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. 8 71
19879535 2009
10
Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin. 8 71
19433360 2009
11
Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family. 8 71
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. 8 71
17720647 2007
13
Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies. 8 71
17221859 2007
14
Desmin splice variants causing cardiac and skeletal myopathy. 8 71
11073539 2000
15
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q. 8 71
10970245 1999
16
A dysfunctional desmin mutation in a patient with severe generalized myopathy. 8 71
9736733 1998
17
Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23. 8 71
9382102 1997
18
Desmin myopathy: a multisystem disorder involving skeletal, cardiac, and smooth muscle. 8 71
7672786 1995
19
Autosomal dominant distal myopathy with desmin storage: a clinicopathologic and electrophysiologic study of a large kinship. 8 71
8114783 1994
20
Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene. 9 8
15122708 2004
21
Structural and functional analysis of a new desmin variant causing desmin-related myopathy. 9 71
11668632 2001
22
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. 71
25313375 2014
23
BAG3-related myofibrillar myopathy in a Chinese family. 71
21361913 2012
24
Desmin-related myopathy. 8
20718792 2011
25
Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3. 8
18197198 2008
26
Myofibrillar Myopathy 71
20301672 2005
27
Myofibrillar myopathy with desmin accumulation in a young Australian Shepherd dog. 8
15210162 2004
28
Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients. 8
14711882 2004
29
On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria. 71
12620971 2003
30
The 105th ENMC sponsored workshop: pathogenesis in the non-sarcoglycan limb-girdle muscular dystrophies, Naarden, April 12-14, 2002. 8
12467737 2003
31
A novel de novo mutation in the desmin gene causes desmin myopathy with toxic aggregates. 71
11061256 2000
32
Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation. 71
10905661 2000
33
Linkage of hereditary distal myopathy with desmin accumulation to 2q. 8
10686494 2000
34
Overview of distal myopathies: from the clinical to the molecular. 8
9673984 1998
35
Desmin-related neuromuscular disorders. 8
7565929 1995
36
Dominantly inherited cytoplasmic body myopathy in a Japanese kindred. 8
8122252 1993
37
Familial desminopathy: myopathy with accumulation of desmin-type intermediate filaments. 8
8509778 1993
38
[Familial myopathy with "cytoplasmic body" (or "spheroid") type inclusions, disclosed by respiratory insufficiency]. 8
2552561 1989
39
Slowly progressive congenital myopathy with cytoplasmic bodies--report of two cases and a review of the literature. 8
6301720 1982
40
An unusual familial cardiomyopathy characterized by aberrant accumulations of desmin-type intermediate filaments. 8
6889780 1981
41
A new type of hereditary distal myopathy with characteristic sarcoplasmic bodies and intermediate (skeletin) filaments. 8
6251174 1980
42
Unusual familial cardiomyopathy with storage of intermediate filaments in the cardiac muscular cells. 8
7405006 1980
43
A myopathy-linked desmin mutation perturbs striated muscle actin filament architecture. 9
19005210 2009
44
Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene. 9
16779558 2006
45
Alpha B-crystallin mutation in dilated cardiomyopathy. 9
16483541 2006
46
Alternative protein secretion: the Mam1 ABC transporter supports secretion of M-factor linked GFP in fission yeast. 38
16288715 2005
47
Desmin-related myopathy: report of a rare case. 9
16010068 2005
48
Early onset myopathy with a novel mutation in the Selenoprotein N gene (SEPN1). 9
15792869 2005
49
Genetic modification of the heart: chaperones and the cytoskeleton. 9
15572040 2004
50
Distinct chaperone mechanisms can delay the formation of aggresomes by the myopathy-causing R120G alphaB-crystallin mutant. 9
12812987 2003
Sources

Variations for Myopathy, Myofibrillar, 1

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ClinVar genetic disease variations for Myopathy, Myofibrillar, 1:

6 (show top 50) (show all 210)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 DES NM_001927.4(DES): c.394C> T (p.Gln132Ter) single nucleotide variant Pathogenic rs1060503165 2:220283578-220283578 2:219418856-219418856
2 DES NM_001927.4(DES): c.1255_1271del (p.Pro419fs) deletion Pathogenic rs1553603732 2:220288509-220288525 2:219423787-219423803
3 DES NM_001927.4(DES): c.336_344del (p.Gln113_Leu115del) deletion Pathogenic rs1553603239 2:220283520-220283528 2:219418798-219418806
4 DES NM_001927.4(DES): c.38C> T (p.Ser13Phe) single nucleotide variant Pathogenic rs62636495 2:220283222-220283222 2:219418500-219418500
5 DES NM_001927.4(DES): c.1289-2A> G single nucleotide variant Pathogenic rs398122940 2:220290383-220290383 2:219425661-219425661
6 DES NM_001927.4(DES): c.1024A> G (p.Asn342Asp) single nucleotide variant Pathogenic rs267607482 2:220286062-220286062 2:219421340-219421340
7 DES NM_001927.4(DES): c.639+4_639+5del deletion Pathogenic rs730880289 2:220284880-220284881 2:219420158-219420159
8 DES NM_001927.4(DES): c.1049G> C (p.Arg350Pro) single nucleotide variant Pathogenic rs57965306 2:220286087-220286087 2:219421365-219421365
9 DES NM_001927.4(DES): c.1325C> T (p.Thr442Ile) single nucleotide variant Pathogenic rs121913005 2:220290421-220290421 2:219425699-219425699
10 DES DES, 3-BP DEL, 720GAA insertion Pathogenic
11 DES NM_001927.4(DES): c.1094_1096ACA[1] (p.Asn366del) short repeat Pathogenic rs58687088 2:220286134-220286136 2:219421412-219421414
12 DES DES, GLU359-ALA360-SER361 DEL deletion Pathogenic
13 DES NM_001927.4(DES): c.1166A> C (p.Gln389Pro) single nucleotide variant Pathogenic rs121913004 2:220286204-220286204 2:219421482-219421482
14 DES NM_001927.4(DES): c.1154T> C (p.Leu385Pro) single nucleotide variant Pathogenic rs57955682 2:220286192-220286192 2:219421470-219421470
15 DES DES, IVS2, G-A, -1 single nucleotide variant Pathogenic
16 DES DES, IVS3DS, A-G, +3 single nucleotide variant Pathogenic
17 DES NM_001927.4(DES): c.1034T> C (p.Leu345Pro) single nucleotide variant Pathogenic rs57639980 2:220286072-220286072 2:219421350-219421350
18 DES NM_001927.4(DES): c.521_541del (p.Ala174_Arg180del) deletion Pathogenic rs60538473 2:220283701-220283721 2:219418979-219418999
19 DES NM_001927.4(DES): c.1178A> T (p.Asn393Ile) single nucleotide variant Pathogenic rs121913001 2:220286216-220286216 2:219421494-219421494
20 DES NM_001927.4(DES): c.1078G> C (p.Ala360Pro) single nucleotide variant Pathogenic rs121913000 2:220286116-220286116 2:219421394-219421394
21 DES NM_001927.4(DES): c.1009G> C (p.Ala337Pro) single nucleotide variant Pathogenic rs59962885 2:220285661-220285661 2:219420939-219420939
22 DES NM_001927.4(DES): c.1213del (p.Tyr405fs) deletion Pathogenic rs886043080 2:220286251-220286251 2:219421529-219421529
23 DES NM_001927.4(DES): c.373A> T (p.Lys125Ter) single nucleotide variant Pathogenic rs886043000 2:220283557-220283557 2:219418835-219418835
24 DES NM_001927.4(DES): c.514C> T (p.Gln172Ter) single nucleotide variant Pathogenic 2:220283698-220283698 2:219418976-219418976
25 covers 41 genes, none of which curated to show dosage sensitivity NC_000002.11: g.(?_219135239)_(220290732_?)del deletion Pathogenic 2:219135239-220290732 :0-0
26 DES NM_001927.4(DES): c.226del (p.Thr76fs) deletion Pathogenic 2:220283410-220283410 2:219418688-219418688
27 DES NM_001927.4(DES): c.1043A> C (p.Gln348Pro) single nucleotide variant Pathogenic 2:220286081-220286081 2:219421359-219421359
28 DES NM_001927.4(DES): c.1132_1153del (p.Lys378fs) deletion Pathogenic 2:220286168-220286189 2:219421448-219421469
29 DES NM_001927.4(DES): c.1237G> T (p.Glu413Ter) single nucleotide variant Pathogenic 2:220286275-220286275 2:219421553-219421553
30 DES NM_001927.4(DES): c.735+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs397516698 2:220285069-220285069 2:219420347-219420347
31 DES NM_001927.4(DES): c.1216C> T (p.Arg406Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121913003 2:220286254-220286254 2:219421532-219421532
32 DES NM_001927.4(DES): c.1013T> G (p.Leu338Arg) single nucleotide variant Pathogenic/Likely pathogenic rs57496341 2:220285665-220285665 2:219420943-219420943
33 DES NM_001927.4(DES): c.1237G> A (p.Glu413Lys) single nucleotide variant Pathogenic/Likely pathogenic rs61726467 2:220286275-220286275 2:219421553-219421553
34 DES NM_001927.4(DES): c.1360C> T (p.Arg454Trp) single nucleotide variant Pathogenic/Likely pathogenic rs267607490 2:220290456-220290456 2:219425734-219425734
35 DES NM_001927.4(DES): c.1255C> T (p.Pro419Ser) single nucleotide variant Pathogenic/Likely pathogenic rs62635763 2:220288509-220288509 2:219423787-219423787
36 DES NM_001927.4(DES): c.1151A> G (p.His384Arg) single nucleotide variant Likely pathogenic rs1553603566 2:220286189-220286189 2:219421467-219421467
37 DES NM_001927.4(DES): c.1A> G (p.Met1Val) single nucleotide variant Likely pathogenic rs1057523274 2:220283185-220283185 2:219418463-219418463
38 DES NM_001927.4(DES): c.347A> G (p.Asn116Ser) single nucleotide variant Likely pathogenic rs267607499 2:220283531-220283531 2:219418809-219418809
39 DES NM_001927.4(DES): c.35C> T (p.Ser12Phe) single nucleotide variant Likely pathogenic rs267607495 2:220283219-220283219 2:219418497-219418497
40 DES NM_001927.4(DES): c.1195G> T (p.Asp399Tyr) single nucleotide variant Likely pathogenic rs61130669 2:220286233-220286233 2:219421511-219421511
41 DES NM_001927.4(DES): c.600del (p.Lys201fs) deletion Likely pathogenic rs727504448 2:220284838-220284838 2:219420116-219420116
42 DES NM_001927.4(DES): c.735+1G> C single nucleotide variant Likely pathogenic rs397516698 2:220285069-220285069 2:219420347-219420347
43 DES NM_001927.4(DES): c.1288+1G> A single nucleotide variant Likely pathogenic 2:220288543-220288543 2:219423821-219423821
44 DES NM_001927.4(DES): c.735+1G> T single nucleotide variant Likely pathogenic 2:220285069-220285069 2:219420347-219420347
45 DES NM_001927.4(DES): c.822C> T (p.Leu274=) single nucleotide variant Conflicting interpretations of pathogenicity rs763599850 2:220285303-220285303 2:219420581-219420581
46 DES NM_001927.4(DES): c.1158C> T (p.Arg386=) single nucleotide variant Conflicting interpretations of pathogenicity rs774323736 2:220286196-220286196 2:219421474-219421474
47 DES NM_001927.4(DES): c.1353C> T (p.Ile451=) single nucleotide variant Conflicting interpretations of pathogenicity rs121913002 2:220290449-220290449 2:219425727-219425727
48 DES NM_001927.4(DES): c.1411T> C (p.Ter471Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs886044329 2:220290710-220290710 2:219425988-219425988
49 DES NM_001927.4(DES): c.1180G> A (p.Val394Met) single nucleotide variant Conflicting interpretations of pathogenicity rs776786349 2:220286218-220286218 2:219421496-219421496
50 DES NM_001927.4(DES): c.924C> T (p.Asn308=) single nucleotide variant Conflicting interpretations of pathogenicity rs578191306 2:220285576-220285576 2:219420854-219420854

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

74 (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
Striated Muscle Contraction 1 66
10.48 NEB 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:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.88 RPS27A NEB MYOT LDB3 DES CRYAB
2 cytoskeleton GO:0005856 9.67 NEB MYOT LDB3 DES
3 sarcolemma GO:0042383 9.43 SYNC MYOT DES
4 neuromuscular junction GO:0031594 9.32 SYNC DES
5 cardiac myofibril GO:0097512 9.16 DES CRYAB
6 contractile fiber GO:0043292 9.13 NEB DES CRYAB
7 Z disc GO:0030018 9.1 SYNC NEB MYOT LDB3 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 9.26 NEB CRYAB
2 muscle filament sliding GO:0030049 9.16 NEB DES
3 stress-activated MAPK cascade GO:0051403 8.96 RPS27A CRYAB
4 muscle contraction GO:0006936 8.8 MYOT DES CRYAB

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of muscle GO:0008307 8.96 NEB MYOT
2 cytoskeletal protein binding GO:0008092 8.8 LDB3 DES CRYAB
Sources

Sources for Myopathy, Myofibrillar, 1

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 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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