MFM1
MCID: MYP072
MIFTS: 47

Myopathy, Myofibrillar, 1 (MFM1)

Categories: Cancer diseases, Cardiovascular diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Myopathy, Myofibrillar, 1

MalaCards integrated aliases for Myopathy, Myofibrillar, 1:

Name: Myopathy, Myofibrillar, 1 58 76 13
Myofibrillar Myopathy 1 12 30 6 15
Muscular Dystrophy, Limb-Girdle, Type 2r 76 30 6
Desmin-Related Myopathy 58 76 56
Desmin-Related Myopathy with Arrhythmogenic Right Ventricular Cardiomyopathy 58 76
Myofibrillar Myopathy with Arrhythmogenic Right Ventricular Cardiomyopathy 58 76
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r 12 60
Arrhythmogenic Right Ventricular Dysplasia, Familial, 7 30 74
Myopathy, Myofibrillar, Desmin-Related 58 74
Desmin-Related Myofibrillar Myopathy 77 60
Desminopathy 12 60
Lgmd2r 60 76
Mfm1 58 76
Drm 58 76
Cardiomyopathy, Dilated, with Conduction Defect and Muscular Dystrophy; Cdcd3, Formerly 58
Arrhythmogenic Right Ventricular Dysplasia, Familial, 7, Formerly; Arvd7, Formerly 58
Cardiomyopathy, Dilated, 1f and Limb-Girdle Muscular Dystrophy Type 1d, Formerly 58
Arrhythmogenic Right Ventricular Cardiomyopathy 7, Formerly; Arvc7, Formerly 58
Autosomal Recessive Limb-Girdle Muscular Dystrophy Due to Desmin Deficiency 60
Inclusion Body Myopathy 1, Autosomal Dominant, Formerly; Ibm1, Formerly 58
Cardiomyopathy, Dilated, with Conduction Defect and Muscular Dystrophy 58
Cardiomyopathy, Dilated, 1f and Limb-Girdle Muscular Dystrophy Type 1d 13
Muscular Dystrophy, Limb-Girdle, Type 2r, Formerly; Lgmd2r, Formerly 58
Dilated Cardiomyopathy 1f and Limb-Girdle Muscular Dystrophy Type 1d 76
Dilated Cardiomyopathy with Conduction Defect and Muscular Dystrophy 76
Arrhythmogenic Right Ventricular Dysplasia, Familial, 7, Formerly 58
Arrhythmogenic Right Ventricular Cardiomyopathy 7, Formerly 58
Inclusion Body Myopathy 1, Autosomal Dominant, Formerly 58
Familial Arrhythmogenic Right Ventricular Dysplasia 7 76
Muscular Dystrophy, Limb-Girdle, Type 2r, Formerly 58
Arrhythmogenic Right Ventricular Cardiomyopathy 7 76
Autosomal Dominant Inclusion Body Myopathy 1 76
Dystrophy, Muscular, Limb-Girdle, Type 2r 41
Myopathy Myofibrillar Desmin-Related 76
Limb-Girdle Muscular Dystrophy 2r 76
Myopathy, Myofibrillar, Type 1 41
Desmin-Related Myopathy; Drm 58
Cmd1f and Lgmd1d, Formerly 58
Desminopathy, Primary 58
Desminopathy Primary 76
Mfm Desmin-Related 76
Lgmd2r, Formerly 58
Cmd1f and Lgmd1d 76
Arvd7, Formerly 58
Arvc7, Formerly 58
Cdcd3, Formerly 58
Ibm1, Formerly 58
Arvc7 76
Arvd7 76
Cdcd3 76

Characteristics:

Orphanet epidemiological data:

60
autosomal recessive limb-girdle muscular dystrophy type 2r
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM:

58
Inheritance:
autosomal recessive
autosomal dominant

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


HPO:

33
myopathy, myofibrillar, 1:
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0080092
OMIM 58 601419
MeSH 45 D020914
ICD10 34 G71.0
ICD10 via Orphanet 35 G71.0 G71.8
UMLS via Orphanet 75 C1832370
MedGen 43 C1832370

Summaries for Myopathy, Myofibrillar, 1

UniProtKB/Swiss-Prot : 76 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 myofibrillar myopathy and myopathy, myofibrillar, 3, and has symptoms including facial paresis An important gene associated with Myopathy, Myofibrillar, 1 is DES (Desmin). Affiliated tissues include skeletal muscle, smooth muscle and brain, and related phenotypes are right ventricular cardiomyopathy and hypertrophic cardiomyopathy

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 : 58 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 : 77 Desmin-related myofibrillar myopathy is a subgroup of the myofibrillar myopathy diseases and is the... more...

Related Diseases for Myopathy, Myofibrillar, 1

Diseases in the Myofibrillar Myopathy family:

Myopathy, Myofibrillar, 1 Myopathy, Myofibrillar, 2
Myopathy, Myofibrillar, 3 Myopathy, Myofibrillar, 4
Myopathy, Myofibrillar, 5 Myopathy, Myofibrillar, 6
Myopathy, Myofibrillar, 7 Myopathy, Myofibrillar, 8

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

(show all 35)
# Related Disease Score Top Affiliating Genes
1 myofibrillar myopathy 31.1 CRYAB DES FLNC LDB3 MYOT
2 myopathy, myofibrillar, 3 30.9 FLNC LDB3 MYOT
3 myopathy, myofibrillar, 2 30.6 CRYAB FLNC LDB3 MYOT
4 myopathy, spheroid body 30.2 CRYAB DES FLNC LDB3 MYOT
5 limb-girdle muscular dystrophy 29.7 FLNC MYOT
6 dilated cardiomyopathy 29.4 CRYAB DES FLNC LDB3
7 myopathy 29.2 CRYAB DES FLNC LDB3 MYOT SELENON
8 muscular dystrophy 29.0 DES FLNC MYOT SELENON
9 rigid spine muscular dystrophy 1 11.6
10 myopathy, myofibrillar, 9, with early respiratory failure 11.0
11 myopathy, myofibrillar, 6 11.0
12 myopathy, myofibrillar, 7 11.0
13 myopathy, myofibrillar, 8 11.0
14 arrhythmogenic right ventricular cardiomyopathy 10.6
15 gastrointestinal stromal tumor 10.3
16 muscle disorders 10.2
17 muscular dystrophy, congenital, 1b 10.2
18 pulmonary alveolar microlithiasis 10.1
19 amnestic disorder 10.1
20 muscular dystrophy, limb-girdle, autosomal dominant 1 10.0 DES MYOT
21 autosomal recessive limb-girdle muscular dystrophy 10.0
22 nemaline myopathy 10.0
23 myocarditis 10.0
24 myopathy, myofibrillar, 4 10.0 LDB3 MYOT
25 corticobasal degeneration 9.9 CRYAB RPS27A
26 neuromuscular disease 9.9 DES MYOT
27 pick disease of brain 9.9 CRYAB RPS27A
28 leukoencephalopathy, hereditary diffuse, with spheroids 9.9 CRYAB RPS27A
29 atrial standstill 1 9.9 DES MYOT
30 familial isolated dilated cardiomyopathy 9.9 CRYAB DES LDB3
31 central core disease of muscle 9.8 DES MYOT SELENON
32 autosomal dominant limb-girdle muscular dystrophy 9.8 FLNC MYOT
33 left ventricular noncompaction 9.8 DES LDB3
34 restrictive cardiomyopathy 9.7 CRYAB DES FLNC
35 muscular disease 9.3 FLNC LDB3 MYOT SELENON

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



Diseases related to Myopathy, Myofibrillar, 1

Symptoms & Phenotypes for Myopathy, Myofibrillar, 1

Human phenotypes related to Myopathy, Myofibrillar, 1:

33 60 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 right ventricular cardiomyopathy 33 occasional (7.5%) HP:0011663
2 hypertrophic cardiomyopathy 33 very rare (1%) HP:0001639
3 dilated cardiomyopathy 33 very rare (1%) HP:0001644
4 third degree atrioventricular block 33 very rare (1%) HP:0001709
5 restrictive cardiomyopathy 33 very rare (1%) HP:0001723
6 bradycardia 33 very rare (1%) HP:0001662
7 respiratory insufficiency due to muscle weakness 60 33 Frequent (79-30%) HP:0002747
8 sudden cardiac death 60 Occasional (29-5%)
9 constipation 33 HP:0002019
10 facial palsy 33 HP:0010628
11 atrioventricular block 60 Frequent (79-30%)
12 congestive heart failure 60 Frequent (79-30%)
13 areflexia of lower limbs 60 Occasional (29-5%)
14 spinal rigidity 60 Very rare (<4-1%)
15 emg: myopathic abnormalities 33 HP:0003458
16 supraventricular arrhythmia 60 Frequent (79-30%)
17 fatigable weakness of bulbar muscles 60 Occasional (29-5%)
18 fatigable weakness of respiratory muscles 60 Frequent (79-30%)
19 diarrhea 33 HP:0002014
20 difficulty walking 60 Frequent (79-30%)
21 late-onset proximal muscle weakness 33 HP:0003694
22 axial muscle weakness 60 Very frequent (99-80%)
23 neck flexor weakness 60 Occasional (29-5%)
24 neck muscle weakness 33 HP:0000467
25 distal lower limb muscle weakness 60 Very frequent (99-80%)
26 progressive muscle weakness 60 Very frequent (99-80%)
27 distal muscle weakness 33 HP:0002460
28 bulbar palsy 33 HP:0001283
29 thoracic kyphoscoliosis 60 Occasional (29-5%)
30 hyporeflexia of lower limbs 33 HP:0002600
31 loss of ability to walk 60 Frequent (79-30%)
32 weakness of facial musculature 60 Occasional (29-5%)
33 concentric hypertrophic cardiomyopathy 60 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
hypertrophic cardiomyopathy
dilated cardiomyopathy
arrhythmias
restrictive heart failure
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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.35 CRYAB DES FLNC LDB3 SELENON
2 muscle MP:0005369 9.02 CRYAB DES FLNC LDB3 SELENON

Drugs & Therapeutics for Myopathy, Myofibrillar, 1

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

Genetic Tests for Myopathy, Myofibrillar, 1

Genetic tests related to Myopathy, Myofibrillar, 1:

# Genetic test Affiliating Genes
1 Myofibrillar Myopathy 1 30 DES
2 Muscular Dystrophy, Limb-Girdle, Type 2r 30
3 Arrhythmogenic Right Ventricular Dysplasia, Familial, 7 30

Anatomical Context for Myopathy, Myofibrillar, 1

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

42
Skeletal Muscle, Smooth Muscle, Brain

Publications for Myopathy, Myofibrillar, 1

Articles related to Myopathy, Myofibrillar, 1:

(show all 34)
# Title Authors Year
1
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. ( 30055862 )
2018
2
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. ( 25313375 )
2014
3
A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies. ( 23687351 )
2013
4
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation. ( 22395865 )
2012
5
Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics. ( 22275259 )
2012
6
Desmin-related myopathy. ( 20718792 )
2011
7
Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks. ( 20423733 )
2010
8
Biochemical and mechanical dysfunction in a mouse model of desmin-related myopathy. ( 19299643 )
2009
9
Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene. ( 19879535 )
2009
10
Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin. ( 19433360 )
2009
11
Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family. ( 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. ( 17720647 )
2007
13
Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies. ( 17221859 )
2007
14
Desmin-related myopathy: report of a rare case. ( 16010068 )
2005
15
Desmin-related myopathy: clinical, electrophysiological, radiological, neuropathological and genetic studies. ( 15050448 )
2004
16
Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy. ( 14648196 )
2004
17
Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene. ( 15122708 )
2004
18
Syncoilin accumulation in two patients with desmin-related myopathy. ( 12467731 )
2003
19
On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria. ( 12620971 )
2003
20
Hsp27 suppresses the formation of inclusion bodies induced by expression of R120G alpha B-crystallin, a cause of desmin-related myopathy. ( 12861387 )
2003
21
Myofibrillar (desmin-related) myopathy: clinico-pathological spectrum in 3 cases and review of the literature. ( 12365725 )
2002
22
Structural and functional analysis of a new desmin variant causing desmin-related myopathy. ( 11668632 )
2001
23
Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation. ( 10905661 )
2000
24
A novel de novo mutation in the desmin gene causes desmin myopathy with toxic aggregates. ( 11061256 )
2000
25
Desmin splice variants causing cardiac and skeletal myopathy. ( 11073539 )
2000
26
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q. ( 10970245 )
1999
27
A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation. ( 10545598 )
1999
28
Missense mutations in desmin associated with familial cardiac and skeletal myopathy. ( 9697706 )
1998
29
A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy. ( 9731540 )
1998
30
A dysfunctional desmin mutation in a patient with severe generalized myopathy. ( 9736733 )
1998
31
Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23. ( 9382102 )
1997
32
Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy. ( 8792816 )
1996
33
Desmin myopathy: a multisystem disorder involving skeletal, cardiac, and smooth muscle. ( 7672786 )
1995
34
Autosomal dominant distal myopathy with desmin storage: a clinicopathologic and electrophysiologic study of a large kinship. ( 8114783 )
1994

Variations for Myopathy, Myofibrillar, 1

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

76 (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

ClinVar genetic disease variations for Myopathy, Myofibrillar, 1:

6 (show top 50) (show all 356)
# Gene Variation Type Significance SNP ID Assembly Location
1 DES NM_001927.3(DES): c.1009G> C (p.Ala337Pro) single nucleotide variant Pathogenic rs59962885 GRCh37 Chromosome 2, 220285661: 220285661
2 DES NM_001927.3(DES): c.1009G> C (p.Ala337Pro) single nucleotide variant Pathogenic rs59962885 GRCh38 Chromosome 2, 219420939: 219420939
3 DES NM_001927.3(DES): c.1078G> C (p.Ala360Pro) single nucleotide variant Pathogenic rs121913000 GRCh37 Chromosome 2, 220286116: 220286116
4 DES NM_001927.3(DES): c.1078G> C (p.Ala360Pro) single nucleotide variant Pathogenic rs121913000 GRCh38 Chromosome 2, 219421394: 219421394
5 DES NM_001927.3(DES): c.1178A> T (p.Asn393Ile) single nucleotide variant Pathogenic rs121913001 GRCh37 Chromosome 2, 220286216: 220286216
6 DES NM_001927.3(DES): c.1178A> T (p.Asn393Ile) single nucleotide variant Pathogenic rs121913001 GRCh38 Chromosome 2, 219421494: 219421494
7 DES NM_001927.3(DES): c.517_537del21 (p.Ala174_Arg180del) deletion Pathogenic rs60538473 GRCh37 Chromosome 2, 220283701: 220283721
8 DES NM_001927.3(DES): c.517_537del21 (p.Ala174_Arg180del) deletion Pathogenic rs60538473 GRCh38 Chromosome 2, 219418979: 219418999
9 DES NM_001927.3(DES): c.1353C> G (p.Ile451Met) single nucleotide variant Uncertain significance rs121913002 GRCh37 Chromosome 2, 220290449: 220290449
10 DES NM_001927.3(DES): c.1353C> G (p.Ile451Met) single nucleotide variant Uncertain significance rs121913002 GRCh38 Chromosome 2, 219425727: 219425727
11 DES NM_001927.3(DES): c.1034T> C (p.Leu345Pro) single nucleotide variant Pathogenic rs57639980 GRCh37 Chromosome 2, 220286072: 220286072
12 DES NM_001927.3(DES): c.1034T> C (p.Leu345Pro) single nucleotide variant Pathogenic rs57639980 GRCh38 Chromosome 2, 219421350: 219421350
13 DES NM_001927.3(DES): c.1216C> T (p.Arg406Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121913003 GRCh37 Chromosome 2, 220286254: 220286254
14 DES NM_001927.3(DES): c.1216C> T (p.Arg406Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121913003 GRCh38 Chromosome 2, 219421532: 219421532
15 DES DES, IVS3DS, A-G, +3 single nucleotide variant Pathogenic
16 DES DES, IVS2, G-A, -1 single nucleotide variant Pathogenic
17 DES NM_001927.3(DES): c.1154T> C (p.Leu385Pro) single nucleotide variant Pathogenic rs57955682 GRCh37 Chromosome 2, 220286192: 220286192
18 DES NM_001927.3(DES): c.1154T> C (p.Leu385Pro) single nucleotide variant Pathogenic rs57955682 GRCh38 Chromosome 2, 219421470: 219421470
19 DES NM_001927.3(DES): c.1166A> C (p.Gln389Pro) single nucleotide variant Pathogenic rs121913004 GRCh37 Chromosome 2, 220286204: 220286204
20 DES NM_001927.3(DES): c.1166A> C (p.Gln389Pro) single nucleotide variant Pathogenic rs121913004 GRCh38 Chromosome 2, 219421482: 219421482
21 DES DES, GLU359-ALA360-SER361 DEL deletion Pathogenic
22 DES NM_001927.3(DES): c.1096_1098delAAC (p.Asn366del) deletion Pathogenic rs58687088 GRCh37 Chromosome 2, 220286134: 220286136
23 DES NM_001927.3(DES): c.1096_1098delAAC (p.Asn366del) deletion Pathogenic rs58687088 GRCh38 Chromosome 2, 219421412: 219421414
24 DES DES, 3-BP DEL, 720GAA insertion Pathogenic
25 DES NM_001927.3(DES): c.1325C> T (p.Thr442Ile) single nucleotide variant Pathogenic rs121913005 GRCh37 Chromosome 2, 220290421: 220290421
26 DES NM_001927.3(DES): c.1325C> T (p.Thr442Ile) single nucleotide variant Pathogenic rs121913005 GRCh38 Chromosome 2, 219425699: 219425699
27 DES NM_001927.3(DES): c.1049G> C (p.Arg350Pro) single nucleotide variant Pathogenic rs57965306 GRCh37 Chromosome 2, 220286087: 220286087
28 DES NM_001927.3(DES): c.1049G> C (p.Arg350Pro) single nucleotide variant Pathogenic rs57965306 GRCh38 Chromosome 2, 219421365: 219421365
29 DES NM_001927.3(DES): c.669T> C (p.Ile223=) single nucleotide variant Benign rs75882680 GRCh37 Chromosome 2, 220285002: 220285002
30 DES NM_001927.3(DES): c.669T> C (p.Ile223=) single nucleotide variant Benign rs75882680 GRCh38 Chromosome 2, 219420280: 219420280
31 DES NM_001927.3(DES): c.75A> G (p.Pro25=) single nucleotide variant Benign rs1318299 GRCh37 Chromosome 2, 220283259: 220283259
32 DES NM_001927.3(DES): c.75A> G (p.Pro25=) single nucleotide variant Benign rs1318299 GRCh38 Chromosome 2, 219418537: 219418537
33 DES NM_001927.3(DES): c.93T> C (p.Ser31=) single nucleotide variant Benign rs2017800 GRCh37 Chromosome 2, 220283277: 220283277
34 DES NM_001927.3(DES): c.93T> C (p.Ser31=) single nucleotide variant Benign rs2017800 GRCh38 Chromosome 2, 219418555: 219418555
35 DES NM_001927.3(DES): c.1255C> T (p.Pro419Ser) single nucleotide variant Likely pathogenic rs62635763 GRCh37 Chromosome 2, 220288509: 220288509
36 DES NM_001927.3(DES): c.1255C> T (p.Pro419Ser) single nucleotide variant Likely pathogenic rs62635763 GRCh38 Chromosome 2, 219423787: 219423787
37 DES NM_001927.3(DES): c.1014G> C (p.Leu338=) single nucleotide variant Benign rs12920 GRCh37 Chromosome 2, 220285666: 220285666
38 DES NM_001927.3(DES): c.1014G> C (p.Leu338=) single nucleotide variant Benign rs12920 GRCh38 Chromosome 2, 219420944: 219420944
39 DES NM_001927.3(DES): c.1026C> T (p.Asn342=) single nucleotide variant Benign/Likely benign rs61731508 GRCh37 Chromosome 2, 220286064: 220286064
40 DES NM_001927.3(DES): c.1026C> T (p.Asn342=) single nucleotide variant Benign/Likely benign rs61731508 GRCh38 Chromosome 2, 219421342: 219421342
41 DES NM_001927.3(DES): c.1104G> A (p.Ala368=) single nucleotide variant Benign rs1058284 GRCh37 Chromosome 2, 220286142: 220286142
42 DES NM_001927.3(DES): c.1104G> A (p.Ala368=) single nucleotide variant Benign rs1058284 GRCh38 Chromosome 2, 219421420: 219421420
43 DES NM_001927.3(DES): c.114G> A (p.Ala38=) single nucleotide variant Benign rs368901105 GRCh37 Chromosome 2, 220283298: 220283298
44 DES NM_001927.3(DES): c.114G> A (p.Ala38=) single nucleotide variant Benign rs368901105 GRCh38 Chromosome 2, 219418576: 219418576
45 DES NM_001927.3(DES): c.1375G> A (p.Val459Ile) single nucleotide variant Benign/Likely benign rs73991549 GRCh37 Chromosome 2, 220290674: 220290674
46 DES NM_001927.3(DES): c.1375G> A (p.Val459Ile) single nucleotide variant Benign/Likely benign rs73991549 GRCh38 Chromosome 2, 219425952: 219425952
47 DES NM_001927.3(DES): c.1404A> G (p.Glu468=) single nucleotide variant Conflicting interpretations of pathogenicity rs397516691 GRCh37 Chromosome 2, 220290703: 220290703
48 DES NM_001927.3(DES): c.1404A> G (p.Glu468=) single nucleotide variant Conflicting interpretations of pathogenicity rs397516691 GRCh38 Chromosome 2, 219425981: 219425981
49 DES NM_001927.3(DES): c.170C> T (p.Ser57Leu) single nucleotide variant Uncertain significance rs372825868 GRCh37 Chromosome 2, 220283354: 220283354
50 DES NM_001927.3(DES): c.170C> T (p.Ser57Leu) single nucleotide variant Uncertain significance rs372825868 GRCh38 Chromosome 2, 219418632: 219418632

Expression for Myopathy, Myofibrillar, 1

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

Pathways for Myopathy, Myofibrillar, 1

GO Terms for Myopathy, Myofibrillar, 1

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

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.62 DES FLNC LDB3 MYOT
2 sarcolemma GO:0042383 9.33 DES FLNC MYOT
3 contractile fiber GO:0043292 9.26 CRYAB DES
4 Z disc GO:0030018 9.02 CRYAB DES FLNC LDB3 MYOT
5 cardiac myofibril GO:0097512 8.96 CRYAB DES

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

# Name GO ID Score Top Affiliating Genes
1 stress-activated MAPK cascade GO:0051403 8.96 CRYAB RPS27A
2 muscle contraction GO:0006936 8.8 CRYAB DES MYOT

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

# Name GO ID Score Top Affiliating Genes
1 cytoskeletal protein binding GO:0008092 8.92 CRYAB DES FLNC LDB3

Sources for Myopathy, Myofibrillar, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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