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MFM1
MCID: MYP072
MIFTS: 46

Myopathy, Myofibrillar, 1 (MFM1)

Categories: Cancer diseases, Cardiovascular diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications 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 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
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:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Neuronal diseases Muscle diseases Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 34 35
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
Sources

Summaries for Myopathy, Myofibrillar, 1

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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, heart and smooth muscle, 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...

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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

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 31.0 CRYAB DES FLNC LDB3 MYOT
2 myopathy, myofibrillar, 3 30.9 FLNC LDB3 MYOT
3 myopathy, myofibrillar, 2 30.5 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 29.1 DES FLNC MYOT SELENON
9 rigid spine muscular dystrophy 1 11.6
10 myopathy, myofibrillar, 6 11.0
11 myopathy, myofibrillar, 7 11.0
12 myopathy, myofibrillar, 8 11.0
13 arrhythmogenic right ventricular cardiomyopathy 10.6
14 cardiomyopathy, dilated, 1b 10.2
15 muscular dystrophy, congenital, 1b 10.2
16 pulmonary alveolar microlithiasis 10.1
17 gastrointestinal stromal tumor 10.1
18 amnestic disorder 10.1
19 muscle disorders 10.1
20 autosomal recessive limb-girdle muscular dystrophy 10.0
21 nemaline myopathy 10.0
22 myocarditis 10.0
23 muscular dystrophy, limb-girdle, autosomal dominant 1 10.0 DES MYOT
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
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Symptoms & Phenotypes for Myopathy, Myofibrillar, 1

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Human phenotypes related to Myopathy, Myofibrillar, 1:

33 (show all 16)
# Description HPO 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 constipation 33 HP:0002019
8 facial palsy 33 HP:0010628
9 respiratory insufficiency due to muscle weakness 33 HP:0002747
10 emg: myopathic abnormalities 33 HP:0003458
11 diarrhea 33 HP:0002014
12 late-onset proximal muscle weakness 33 HP:0003694
13 neck muscle weakness 33 HP:0000467
14 distal muscle weakness 33 HP:0002460
15 bulbar palsy 33 HP:0001283
16 hyporeflexia of lower limbs 33 HP:0002600

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
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 30 DES
2 Muscular Dystrophy, Limb-Girdle, Type 2r 30
3 Arrhythmogenic Right Ventricular Dysplasia, Familial, 7 30
Sources

Anatomical Context for Myopathy, Myofibrillar, 1

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

42
Skeletal Muscle, Heart, Smooth Muscle
Sources

Publications for Myopathy, Myofibrillar, 1

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Articles related to Myopathy, Myofibrillar, 1:

(show all 11)
# Title Authors Year
1
Desmin-related myopathy. ( 20718792 )
2011
2
Biochemical and mechanical dysfunction in a mouse model of desmin-related myopathy. ( 19299643 )
2009
3
Desmin-related myopathy: report of a rare case. ( 16010068 )
2005
4
Desmin-related myopathy: clinical, electrophysiological, radiological, neuropathological and genetic studies. ( 15050448 )
2004
5
Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene. ( 15122708 )
2004
6
Syncoilin accumulation in two patients with desmin-related myopathy. ( 12467731 )
2003
7
Hsp27 suppresses the formation of inclusion bodies induced by expression of R120G alpha B-crystallin, a cause of desmin-related myopathy. ( 12861387 )
2003
8
Myofibrillar (desmin-related) myopathy: clinico-pathological spectrum in 3 cases and review of the literature. ( 12365725 )
2002
9
Structural and functional analysis of a new desmin variant causing desmin-related myopathy. ( 11668632 )
2001
10
A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy. ( 9731540 )
1998
11
Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy. ( 8792816 )
1996
Sources

Variations for Myopathy, Myofibrillar, 1

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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.243C> T (p.Ser81=) single nucleotide variant Benign/Likely benign rs201594392 GRCh38 Chromosome 2, 219418705: 219418705
2 DES NM_001927.3(DES): c.243C> T (p.Ser81=) single nucleotide variant Benign/Likely benign rs201594392 GRCh37 Chromosome 2, 220283427: 220283427
3 DES NM_001927.3(DES): c.600delG (p.Lys201Argfs) deletion Likely pathogenic rs727504448 GRCh38 Chromosome 2, 219420116: 219420116
4 DES NM_001927.3(DES): c.600delG (p.Lys201Argfs) deletion Likely pathogenic rs727504448 GRCh37 Chromosome 2, 220284838: 220284838
5 DES NM_001927.3(DES): c.665G> A (p.Arg222His) single nucleotide variant Conflicting interpretations of pathogenicity rs367961979 GRCh38 Chromosome 2, 219420276: 219420276
6 DES NM_001927.3(DES): c.665G> A (p.Arg222His) single nucleotide variant Conflicting interpretations of pathogenicity rs367961979 GRCh37 Chromosome 2, 220284998: 220284998
7 DES NM_001927.3(DES): c.250G> A (p.Gly84Ser) single nucleotide variant Uncertain significance rs200545412 GRCh37 Chromosome 2, 220283434: 220283434
8 DES NM_001927.3(DES): c.250G> A (p.Gly84Ser) single nucleotide variant Uncertain significance rs200545412 GRCh38 Chromosome 2, 219418712: 219418712
9 DES NM_001927.3(DES): c.635G> A (p.Arg212Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs144261171 GRCh38 Chromosome 2, 219420151: 219420151
10 DES NM_001927.3(DES): c.635G> A (p.Arg212Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs144261171 GRCh37 Chromosome 2, 220284873: 220284873
11 DES NM_001927.3(DES): c.735+1G> C single nucleotide variant Likely pathogenic rs397516698 GRCh37 Chromosome 2, 220285069: 220285069
12 DES NM_001927.3(DES): c.735+1G> C single nucleotide variant Likely pathogenic rs397516698 GRCh38 Chromosome 2, 219420347: 219420347
13 DES NM_001927.3(DES): c.79G> A (p.Gly27Ser) single nucleotide variant Uncertain significance rs727504877 GRCh38 Chromosome 2, 219418541: 219418541
14 DES NM_001927.3(DES): c.79G> A (p.Gly27Ser) single nucleotide variant Uncertain significance rs727504877 GRCh37 Chromosome 2, 220283263: 220283263
15 DES NM_001927.3(DES): c.639+3_639+4delGA deletion Pathogenic rs730880289 GRCh38 Chromosome 2, 219420158: 219420159
16 DES NM_001927.3(DES): c.639+3_639+4delGA deletion Pathogenic rs730880289 GRCh37 Chromosome 2, 220284880: 220284881
17 DES NM_001927.3(DES): c.216C> A (p.Ser72Arg) single nucleotide variant Uncertain significance rs375719734 GRCh37 Chromosome 2, 220283400: 220283400
18 DES NM_001927.3(DES): c.216C> A (p.Ser72Arg) single nucleotide variant Uncertain significance rs375719734 GRCh38 Chromosome 2, 219418678: 219418678
19 DES NM_001927.3(DES): c.-44G> A single nucleotide variant Benign/Likely benign rs184826121 GRCh37 Chromosome 2, 220283141: 220283141
20 DES NM_001927.3(DES): c.-44G> A single nucleotide variant Benign/Likely benign rs184826121 GRCh38 Chromosome 2, 219418419: 219418419
21 DES NM_001927.3(DES): c.154C> A (p.Arg52Ser) single nucleotide variant Uncertain significance rs794728990 GRCh37 Chromosome 2, 220283338: 220283338
22 DES NM_001927.3(DES): c.154C> A (p.Arg52Ser) single nucleotide variant Uncertain significance rs794728990 GRCh38 Chromosome 2, 219418616: 219418616
23 DES NM_001927.3(DES): c.166G> C (p.Val56Leu) single nucleotide variant Uncertain significance rs578066781 GRCh37 Chromosome 2, 220283350: 220283350
24 DES NM_001927.3(DES): c.166G> C (p.Val56Leu) single nucleotide variant Uncertain significance rs578066781 GRCh38 Chromosome 2, 219418628: 219418628
25 DES NM_001927.3(DES): c.295C> G (p.Gln99Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs794728992 GRCh38 Chromosome 2, 219418757: 219418757
26 DES NM_001927.3(DES): c.295C> G (p.Gln99Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs794728992 GRCh37 Chromosome 2, 220283479: 220283479
27 DES NM_001927.3(DES): c.727C> T (p.His243Tyr) single nucleotide variant Uncertain significance rs769647148 GRCh37 Chromosome 2, 220285060: 220285060
28 DES NM_001927.3(DES): c.727C> T (p.His243Tyr) single nucleotide variant Uncertain significance rs769647148 GRCh38 Chromosome 2, 219420338: 219420338
29 DES NM_001927.3(DES): c.832C> T (p.Arg278Trp) single nucleotide variant Uncertain significance rs794728985 GRCh37 Chromosome 2, 220285313: 220285313
30 DES NM_001927.3(DES): c.832C> T (p.Arg278Trp) single nucleotide variant Uncertain significance rs794728985 GRCh38 Chromosome 2, 219420591: 219420591
31 DES NM_001927.3(DES): c.976C> T (p.His326Tyr) single nucleotide variant Uncertain significance rs794728987 GRCh37 Chromosome 2, 220285628: 220285628
32 DES NM_001927.3(DES): c.976C> T (p.His326Tyr) single nucleotide variant Uncertain significance rs794728987 GRCh38 Chromosome 2, 219420906: 219420906
33 DES NM_001927.3(DES): c.1027G> A (p.Asp343Asn) single nucleotide variant Uncertain significance rs763903197 GRCh37 Chromosome 2, 220286065: 220286065
34 DES NM_001927.3(DES): c.1027G> A (p.Asp343Asn) single nucleotide variant Uncertain significance rs763903197 GRCh38 Chromosome 2, 219421343: 219421343
35 DES NM_001927.3(DES): c.1123C> T (p.Arg375Trp) single nucleotide variant Uncertain significance rs375218723 GRCh37 Chromosome 2, 220286161: 220286161
36 DES NM_001927.3(DES): c.1123C> T (p.Arg375Trp) single nucleotide variant Uncertain significance rs375218723 GRCh38 Chromosome 2, 219421439: 219421439
37 DES NM_001927.3(DES): c.1243C> T (p.Arg415Trp) single nucleotide variant Uncertain significance rs751942358 GRCh37 Chromosome 2, 220286281: 220286281
38 DES NM_001927.3(DES): c.1243C> T (p.Arg415Trp) single nucleotide variant Uncertain significance rs751942358 GRCh38 Chromosome 2, 219421559: 219421559
39 DES NM_001927.3(DES): c.1371+1G> A single nucleotide variant Conflicting interpretations of pathogenicity rs748323823 GRCh37 Chromosome 2, 220290468: 220290468
40 DES NM_001927.3(DES): c.1371+1G> A single nucleotide variant Conflicting interpretations of pathogenicity rs748323823 GRCh38 Chromosome 2, 219425746: 219425746
41 DES DES, IVS2, G-A, -1 single nucleotide variant Pathogenic
42 DES NM_001927.3(DES): c.1154T> C (p.Leu385Pro) single nucleotide variant Pathogenic rs57955682 GRCh37 Chromosome 2, 220286192: 220286192
43 DES DES, IVS3DS, A-G, +3 single nucleotide variant Pathogenic
44 DES NM_001927.3(DES): c.1009G> C (p.Ala337Pro) single nucleotide variant Pathogenic rs59962885 GRCh37 Chromosome 2, 220285661: 220285661
45 DES NM_001927.3(DES): c.1009G> C (p.Ala337Pro) single nucleotide variant Pathogenic rs59962885 GRCh38 Chromosome 2, 219420939: 219420939
46 DES NM_001927.3(DES): c.1078G> C (p.Ala360Pro) single nucleotide variant Pathogenic rs121913000 GRCh37 Chromosome 2, 220286116: 220286116
47 DES NM_001927.3(DES): c.1078G> C (p.Ala360Pro) single nucleotide variant Pathogenic rs121913000 GRCh38 Chromosome 2, 219421394: 219421394
48 DES NM_001927.3(DES): c.1178A> T (p.Asn393Ile) single nucleotide variant Pathogenic rs121913001 GRCh37 Chromosome 2, 220286216: 220286216
49 DES NM_001927.3(DES): c.1178A> T (p.Asn393Ile) single nucleotide variant Pathogenic rs121913001 GRCh38 Chromosome 2, 219421494: 219421494
50 DES NM_001927.3(DES): c.517_537del21 (p.Ala174_Arg180del) deletion Pathogenic rs60538473 GRCh37 Chromosome 2, 220283701: 220283721
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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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 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

Sources for Myopathy, Myofibrillar, 1

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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
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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