MFM5
MCID: MYP079
MIFTS: 35

Myopathy, Myofibrillar, 5 (MFM5)

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

Aliases & Classifications for Myopathy, Myofibrillar, 5

MalaCards integrated aliases for Myopathy, Myofibrillar, 5:

Name: Myopathy, Myofibrillar, 5 58 76 13
Myofibrillar Myopathy, Filamin C-Related 30 6
Filaminopathy, Autosomal Dominant 58 74
Myofibrillar Myopathy 5 12 15
Mfm5 58 76
Myopathy, Myofibrillar, Filamin C-Related 58
Myopathy Myofibrillar Filamin C-Related 76
Autosomal Dominant Filaminopathy 76
Myopathy, Myofibrillar, Type 5 41
Mfm Filamin C-Related 76
Muscle Filaminopathy 60
Filaminopathy 12

Characteristics:

Orphanet epidemiological data:

60
muscle filaminopathy
Inheritance: Autosomal dominant;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
adult onset (37 to 57 years)


HPO:

33
myopathy, myofibrillar, 5:
Onset and clinical course adult onset slow progression
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0080096
OMIM 58 609524
MeSH 45 D020914
ICD10 via Orphanet 35 G71.8
UMLS via Orphanet 75 C1836050
Orphanet 60 ORPHA171445
MedGen 43 C1836050
UMLS 74 C1836050

Summaries for Myopathy, Myofibrillar, 5

UniProtKB/Swiss-Prot : 76 Myopathy, myofibrillar, 5: 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. MFM5 is characterized by onset in adulthood, clinical features of a limb-girdle myopathy, and focal myofibrillar destruction.

MalaCards based summary : Myopathy, Myofibrillar, 5, also known as myofibrillar myopathy, filamin c-related, is related to welander distal myopathy, swedish type and myopathy, distal, 4, and has symptoms including waddling gait An important gene associated with Myopathy, Myofibrillar, 5 is FLNC (Filamin C), and among its related pathways/superpathways are Proteoglycans in cancer and SMAD Signaling Network. Related phenotypes are respiratory insufficiency and waddling gait

Disease Ontology : 12 A myofibrillar myopathy that has material basis in heterozygous mutation in the FLNC gene on chromosome 7q32.

Description from OMIM: 609524

Related Diseases for Myopathy, Myofibrillar, 5

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, 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 welander distal myopathy, swedish type 11.2
2 myopathy, distal, 4 11.1
3 myofibrillar myopathy 11.1
4 muscle disorders 10.1
5 myopathy 10.1
6 xp22.3 microdeletion syndrome 10.1
7 atelosteogenesis 9.8 FLNA FLNC
8 hajdu-cheney syndrome 9.7 FLNA FLNC

Graphical network of the top 20 diseases related to Myopathy, Myofibrillar, 5:



Diseases related to Myopathy, Myofibrillar, 5

Symptoms & Phenotypes for Myopathy, Myofibrillar, 5

Human phenotypes related to Myopathy, Myofibrillar, 5:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 respiratory insufficiency 33 HP:0002093
2 waddling gait 33 HP:0002515
3 proximal muscle weakness 33 HP:0003701
4 difficulty climbing stairs 33 HP:0003551
5 myofibrillar myopathy 33 HP:0003715
6 muscle fiber splitting 33 HP:0003555
7 elevated serum creatine kinase 33 HP:0003236
8 abnormal peripheral nervous system morphology 33 HP:0000759
9 muscle fiber cytoplasmatic inclusion bodies 33 HP:0100303

Symptoms via clinical synopsis from OMIM:

58
Respiratory:
respiratory insufficiency

Laboratory Abnormalities:
increased serum creatine kinase

Muscle Soft Tissue:
waddling gait
difficulty climbing stairs
fiber splitting
lower limbs more affected than upper limbs
muscle biopsy shows myofibrillar myopathy
more
Neurologic Peripheral Nervous System:
peripheral nerve involvement may occur

Clinical features from OMIM:

609524

UMLS symptoms related to Myopathy, Myofibrillar, 5:


waddling gait

GenomeRNAi Phenotypes related to Myopathy, Myofibrillar, 5 according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell migration GR00055-A-3 8.62 FLNA FLNC

Drugs & Therapeutics for Myopathy, Myofibrillar, 5

Search Clinical Trials , NIH Clinical Center for Myopathy, Myofibrillar, 5

Genetic Tests for Myopathy, Myofibrillar, 5

Genetic tests related to Myopathy, Myofibrillar, 5:

# Genetic test Affiliating Genes
1 Myofibrillar Myopathy, Filamin C-Related 30 FLNC

Anatomical Context for Myopathy, Myofibrillar, 5

Publications for Myopathy, Myofibrillar, 5

Articles related to Myopathy, Myofibrillar, 5:

# Title Authors Year
1
In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy. ( 19050726 )
2009
2
The pathomechanism of filaminopathy: altered biochemical properties explain the cellular phenotype of a protein aggregation myopathy. ( 17412757 )
2007
3
A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy. ( 15929027 )
2005

Variations for Myopathy, Myofibrillar, 5

ClinVar genetic disease variations for Myopathy, Myofibrillar, 5:

6 (show top 50) (show all 1397)
# Gene Variation Type Significance SNP ID Assembly Location
1 FLNC NM_001458.4(FLNC): c.8130G> A (p.Trp2710Ter) single nucleotide variant Pathogenic rs121909518 GRCh37 Chromosome 7, 128498529: 128498529
2 FLNC NM_001458.4(FLNC): c.8130G> A (p.Trp2710Ter) single nucleotide variant Pathogenic rs121909518 GRCh38 Chromosome 7, 128858475: 128858475
3 FLNC NM_001458.4(FLNC): c.2789_2800delTCAAGTACACCG (p.Val930_Thr933del) deletion Pathogenic GRCh38 Chromosome 7, 128843555: 128843566
4 FLNC NM_001458.4(FLNC): c.2789_2800delTCAAGTACACCG (p.Val930_Thr933del) deletion Pathogenic GRCh37 Chromosome 7, 128483609: 128483620
5 FLNC NM_001458.4(FLNC): c.1374C> T (p.Pro458=) single nucleotide variant Benign rs115140972 GRCh37 Chromosome 7, 128478820: 128478820
6 FLNC NM_001458.4(FLNC): c.1374C> T (p.Pro458=) single nucleotide variant Benign rs115140972 GRCh38 Chromosome 7, 128838766: 128838766
7 FLNC NM_001458.4(FLNC): c.1614C> T (p.Tyr538=) single nucleotide variant Benign rs76046880 GRCh37 Chromosome 7, 128480666: 128480666
8 FLNC NM_001458.4(FLNC): c.1614C> T (p.Tyr538=) single nucleotide variant Benign rs76046880 GRCh38 Chromosome 7, 128840612: 128840612
9 FLNC NM_001458.4(FLNC): c.2501C> T (p.Thr834Met) single nucleotide variant Benign rs75133741 GRCh37 Chromosome 7, 128482959: 128482959
10 FLNC NM_001458.4(FLNC): c.2501C> T (p.Thr834Met) single nucleotide variant Benign rs75133741 GRCh38 Chromosome 7, 128842905: 128842905
11 FLNC NM_001458.4(FLNC): c.3624G> A (p.Ala1208=) single nucleotide variant Benign rs35281128 GRCh37 Chromosome 7, 128485143: 128485143
12 FLNC NM_001458.4(FLNC): c.3624G> A (p.Ala1208=) single nucleotide variant Benign rs35281128 GRCh38 Chromosome 7, 128845089: 128845089
13 FLNC NM_001458.4(FLNC): c.3757G> A (p.Val1253Ile) single nucleotide variant Benign rs117366477 GRCh37 Chromosome 7, 128485276: 128485276
14 FLNC NM_001458.4(FLNC): c.3757G> A (p.Val1253Ile) single nucleotide variant Benign rs117366477 GRCh38 Chromosome 7, 128845222: 128845222
15 FLNC NM_001458.4(FLNC): c.3838C> T (p.Leu1280=) single nucleotide variant Benign rs34180031 GRCh37 Chromosome 7, 128486091: 128486091
16 FLNC NM_001458.4(FLNC): c.3838C> T (p.Leu1280=) single nucleotide variant Benign rs34180031 GRCh38 Chromosome 7, 128846037: 128846037
17 FLNC NM_001458.4(FLNC): c.5592C> T (p.Ala1864=) single nucleotide variant Benign rs117517372 GRCh37 Chromosome 7, 128491338: 128491338
18 FLNC NM_001458.4(FLNC): c.5592C> T (p.Ala1864=) single nucleotide variant Benign rs117517372 GRCh38 Chromosome 7, 128851284: 128851284
19 FLNC NM_001458.4(FLNC): c.6771A> G (p.Pro2257=) single nucleotide variant Benign rs34422412 GRCh37 Chromosome 7, 128494510: 128494510
20 FLNC NM_001458.4(FLNC): c.6771A> G (p.Pro2257=) single nucleotide variant Benign rs34422412 GRCh38 Chromosome 7, 128854456: 128854456
21 FLNC NM_001458.4(FLNC): c.7780+10A> G single nucleotide variant Benign/Likely benign rs201149834 GRCh37 Chromosome 7, 128497400: 128497400
22 FLNC NM_001458.4(FLNC): c.7780+10A> G single nucleotide variant Benign/Likely benign rs201149834 GRCh38 Chromosome 7, 128857346: 128857346
23 FLNC NM_001458.4(FLNC): c.8118C> T (p.Leu2706=) single nucleotide variant Benign rs28379666 GRCh37 Chromosome 7, 128498517: 128498517
24 FLNC NM_001458.4(FLNC): c.8118C> T (p.Leu2706=) single nucleotide variant Benign rs28379666 GRCh38 Chromosome 7, 128858463: 128858463
25 FLNC NM_001458.4(FLNC): c.8121T> C (p.Ile2707=) single nucleotide variant Benign rs28437296 GRCh37 Chromosome 7, 128498520: 128498520
26 FLNC NM_001458.4(FLNC): c.8121T> C (p.Ile2707=) single nucleotide variant Benign rs28437296 GRCh38 Chromosome 7, 128858466: 128858466
27 FLNC NM_001458.4(FLNC): c.1600G> A (p.Glu534Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs201905890 GRCh37 Chromosome 7, 128480652: 128480652
28 FLNC NM_001458.4(FLNC): c.1600G> A (p.Glu534Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs201905890 GRCh38 Chromosome 7, 128840598: 128840598
29 FLNC NM_001458.4(FLNC): c.1577G> A (p.Arg526Gln) single nucleotide variant Benign rs34932223 GRCh37 Chromosome 7, 128480629: 128480629
30 FLNC NM_001458.4(FLNC): c.1577G> A (p.Arg526Gln) single nucleotide variant Benign rs34932223 GRCh38 Chromosome 7, 128840575: 128840575
31 FLNC NM_001458.4(FLNC): c.1698C> T (p.Ser566=) single nucleotide variant Conflicting interpretations of pathogenicity rs112194548 GRCh37 Chromosome 7, 128480909: 128480909
32 FLNC NM_001458.4(FLNC): c.1698C> T (p.Ser566=) single nucleotide variant Conflicting interpretations of pathogenicity rs112194548 GRCh38 Chromosome 7, 128840855: 128840855
33 FLNC NM_001458.4(FLNC): c.1902G> A (p.Glu634=) single nucleotide variant Benign rs12536635 GRCh37 Chromosome 7, 128481312: 128481312
34 FLNC NM_001458.4(FLNC): c.1902G> A (p.Glu634=) single nucleotide variant Benign rs12536635 GRCh38 Chromosome 7, 128841258: 128841258
35 FLNC NM_001458.4(FLNC): c.2008-7C> T single nucleotide variant Conflicting interpretations of pathogenicity rs767576240 GRCh37 Chromosome 7, 128481501: 128481501
36 FLNC NM_001458.4(FLNC): c.2008-7C> T single nucleotide variant Conflicting interpretations of pathogenicity rs767576240 GRCh38 Chromosome 7, 128841447: 128841447
37 FLNC NM_001458.4(FLNC): c.597C> T (p.Ala199=) single nucleotide variant Benign/Likely benign rs143942649 GRCh37 Chromosome 7, 128475624: 128475624
38 FLNC NM_001458.4(FLNC): c.597C> T (p.Ala199=) single nucleotide variant Benign/Likely benign rs143942649 GRCh38 Chromosome 7, 128835570: 128835570
39 FLNC NM_001458.4(FLNC): c.3054C> T (p.Gly1018=) single nucleotide variant Uncertain significance rs769624093 GRCh37 Chromosome 7, 128484182: 128484182
40 FLNC NM_001458.4(FLNC): c.3054C> T (p.Gly1018=) single nucleotide variant Uncertain significance rs769624093 GRCh38 Chromosome 7, 128844128: 128844128
41 FLNC NM_001458.4(FLNC): c.3243G> A (p.Ala1081=) single nucleotide variant Conflicting interpretations of pathogenicity rs534482249 GRCh37 Chromosome 7, 128484762: 128484762
42 FLNC NM_001458.4(FLNC): c.3243G> A (p.Ala1081=) single nucleotide variant Conflicting interpretations of pathogenicity rs534482249 GRCh38 Chromosome 7, 128844708: 128844708
43 FLNC NM_001458.4(FLNC): c.3966C> T (p.Gly1322=) single nucleotide variant Conflicting interpretations of pathogenicity rs200237564 GRCh37 Chromosome 7, 128486356: 128486356
44 FLNC NM_001458.4(FLNC): c.3966C> T (p.Gly1322=) single nucleotide variant Conflicting interpretations of pathogenicity rs200237564 GRCh38 Chromosome 7, 128846302: 128846302
45 FLNC NM_001458.4(FLNC): c.4022G> A (p.Arg1341Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs149641783 GRCh37 Chromosome 7, 128486412: 128486412
46 FLNC NM_001458.4(FLNC): c.4022G> A (p.Arg1341Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs149641783 GRCh38 Chromosome 7, 128846358: 128846358
47 FLNC NM_001458.4(FLNC): c.4553A> G (p.Lys1518Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201635205 GRCh37 Chromosome 7, 128488095: 128488095
48 FLNC NM_001458.4(FLNC): c.4553A> G (p.Lys1518Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201635205 GRCh38 Chromosome 7, 128848041: 128848041
49 FLNC NM_001458.4(FLNC): c.4737+9_4737+10delCT deletion Benign rs794727437 GRCh37 Chromosome 7, 128488780: 128488781
50 FLNC NM_001458.4(FLNC): c.4737+9_4737+10delCT deletion Benign rs794727437 GRCh38 Chromosome 7, 128848726: 128848727

Expression for Myopathy, Myofibrillar, 5

Search GEO for disease gene expression data for Myopathy, Myofibrillar, 5.

Pathways for Myopathy, Myofibrillar, 5

Pathways related to Myopathy, Myofibrillar, 5 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.56 FLNA FLNC
2 11.24 FLNA FLNC
3 10.69 FLNA FLNC
4 10.56 FLNA FLNC

GO Terms for Myopathy, Myofibrillar, 5

Cellular components related to Myopathy, Myofibrillar, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 focal adhesion GO:0005925 9.13 FLNA FLNC XIRP2
2 Z disc GO:0030018 9.02 FLNA FLNC MYOM1 NRAP XIRP2

Biological processes related to Myopathy, Myofibrillar, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cardiac muscle tissue morphogenesis GO:0055008 8.96 MYOM1 XIRP2
2 cell junction assembly GO:0034329 8.62 FLNA FLNC

Molecular functions related to Myopathy, Myofibrillar, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.33 FLNA NRAP XIRP2
2 kinase binding GO:0019900 9.26 FLNA MYOM1
3 actin filament binding GO:0051015 9.02 FLNA FLNC MYOM1 NRAP XIRP2
4 muscle alpha-actinin binding GO:0051371 8.96 MYOM1 NRAP

Sources for Myopathy, Myofibrillar, 5

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
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41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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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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