MFM5
MCID: MYP079
MIFTS: 41

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 57 74 13
Myofibrillar Myopathy, Filamin C-Related 29 6
Filaminopathy, Autosomal Dominant 57 72
Myofibrillar Myopathy 5 12 15
Mfm5 57 74
Myopathy, Myofibrillar, Filamin C-Related 57
Myopathy Myofibrillar Filamin C-Related 74
Autosomal Dominant Filaminopathy 74
Myopathy, Myofibrillar, Type 5 40
Mfm Filamin C-Related 74
Muscle Filaminopathy 59
Filaminopathy 12

Characteristics:

Orphanet epidemiological data:

59
muscle filaminopathy
Inheritance: Autosomal dominant;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
myopathy, myofibrillar, 5:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset slow progression


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0080096
MeSH 44 D020914
ICD10 via Orphanet 34 G71.8
UMLS via Orphanet 73 C1836050
Orphanet 59 ORPHA171445
MedGen 42 C1836050
UMLS 72 C1836050

Summaries for Myopathy, Myofibrillar, 5

UniProtKB/Swiss-Prot : 74 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 myofibrillar myopathy and welander distal myopathy, swedish type, 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.

More information from OMIM: 609524 PS601419

Related Diseases for Myopathy, Myofibrillar, 5

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:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 respiratory insufficiency 32 HP:0002093
2 waddling gait 32 HP:0002515
3 proximal muscle weakness 32 HP:0003701
4 difficulty climbing stairs 32 HP:0003551
5 myofibrillar myopathy 32 HP:0003715
6 muscle fiber splitting 32 HP:0003555
7 elevated serum creatine kinase 32 HP:0003236
8 abnormal peripheral nervous system morphology 32 HP:0000759
9 muscle fiber cytoplasmatic inclusion bodies 32 HP:0100303

Symptoms via clinical synopsis from OMIM:

57
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

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 29 FLNC

Anatomical Context for Myopathy, Myofibrillar, 5

Publications for Myopathy, Myofibrillar, 5

Articles related to Myopathy, Myofibrillar, 5:

(show all 25)
# Title Authors PMID Year
1
In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy. 8 71
19050726 2009
2
A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy. 8 71
15929027 2005
3
Myofibrillar instability exacerbated by acute exercise in filaminopathy. 38 8
26472074 2015
4
The pathomechanism of filaminopathy: altered biochemical properties explain the cellular phenotype of a protein aggregation myopathy. 38 71
17412757 2007
5
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
6
BAG3-related myofibrillar myopathy in a Chinese family. 71
21361913 2012
7
Myofibrillar Myopathy 71
20301672 2005
8
Autosomal dominant limb-girdle muscular dystrophy: a large kindred with evidence for anticipation. 8
11222786 2001
9
Expanding the phenotype of filamin-C-related myofibrillar myopathy. 38
30496909 2019
10
De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy. 38
29858533 2018
11
Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function. 38
28915917 2017
12
Association of mutations in FLNA with craniosynostosis. 38
25873011 2015
13
Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathy. 38
23639843 2013
14
Impairment of protein degradation in myofibrillar myopathy caused by FLNC/filamin C mutations. 38
23238331 2013
15
Heterogeneity of platelet functional alterations in patients with filamin A mutations. 38
23117662 2013
16
Filamin C-related myopathies: pathology and mechanisms. 38
23109048 2013
17
A combined laser microdissection and mass spectrometry approach reveals new disease relevant proteins accumulating in aggregates of filaminopathy patients. 38
23115302 2013
18
Pathophysiology of protein aggregation and extended phenotyping in filaminopathy. 38
22961544 2012
19
Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia. 38
22806379 2012
20
PHF6 Deletions May Cause Borjeson-Forssman-Lehmann Syndrome in Females. 38
22190899 2011
21
A novel heterozygous deletion-insertion mutation (2695-2712 del/GTTTGT ins) in exon 18 of the filamin C gene causes filaminopathy in a large Chinese family. 38
20417099 2010
22
Hyaline protoplasmic astrocytopathy of neocortex. 38
19151628 2009
23
Distinct muscle imaging patterns in myofibrillar myopathies. 38
18765652 2008
24
Astrocytic inclusions in epilepsy: expanding the spectrum of filaminopathies. 38
18596546 2008
25
Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients. 38
18055494 2007

Variations for Myopathy, Myofibrillar, 5

ClinVar genetic disease variations for Myopathy, Myofibrillar, 5:

6 (show top 50) (show all 872)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FLNC NM_001458.4(FLNC): c.1948C> T (p.Arg650Ter) single nucleotide variant Pathogenic rs770606675 7:128481358-128481358 7:128841304-128841304
2 FLNC NM_001458.4(FLNC): c.4716del (p.Leu1573fs) deletion Pathogenic rs1554400021 7:128488750-128488750 7:128848696-128848696
3 FLNC NM_001458.4(FLNC): c.7294C> T (p.Gln2432Ter) single nucleotide variant Pathogenic rs1554401756 7:128496614-128496614 7:128856560-128856560
4 FLNC NM_001458.4(FLNC): c.1519_1525del (p.Gly507fs) deletion Pathogenic rs1554398092 7:128480184-128480190 7:128840130-128840136
5 FLNC NM_001458.4(FLNC) deletion Pathogenic rs1554398674 7:128482838-128482864 7:128842784-128842810
6 FLNC NM_001458.4(FLNC): c.4926_4927insACGTCACA (p.Val1643fs) insertion Pathogenic rs1402879259 7:128489035-128489036 7:128848981-128848982
7 FLNC NM_001458.4(FLNC): c.6976C> T (p.Arg2326Ter) single nucleotide variant Pathogenic rs748416758 7:128494715-128494715 7:128854661-128854661
8 FLNC NM_001458.4(FLNC): c.7371del (p.Glu2458fs) deletion Pathogenic rs1554401780 7:128496691-128496691 7:128856637-128856637
9 FLNC NM_001458.4(FLNC): c.3934_3937dup (p.Arg1313fs) duplication Pathogenic rs1554399513 7:128486187-128486190 7:128846133-128846136
10 FLNC NM_001458.4(FLNC): c.7496_7497insTGCT (p.Gln2499fs) insertion Pathogenic rs1554401830 7:128496910-128496911 7:128856856-128856857
11 FLNC NM_001458.4(FLNC): c.444G> A (p.Trp148Ter) single nucleotide variant Pathogenic rs1554397197 7:128475471-128475471 7:128835417-128835417
12 FLNC NM_001458.4(FLNC): c.805C> T (p.Arg269Ter) single nucleotide variant Pathogenic rs755583250 7:128477557-128477557 7:128837503-128837503
13 FLNC NM_001458.4(FLNC): c.5165del (p.Gly1722fs) deletion Pathogenic rs1554400242 7:128489598-128489598 7:128849544-128849544
14 FLNC NM_001458.4(FLNC): c.5697dup (p.Ser1900fs) duplication Pathogenic rs1554400700 7:128491537-128491537 7:128851483-128851483
15 FLNC NM_001458.4(FLNC): c.1605C> A (p.Cys535Ter) single nucleotide variant Pathogenic rs199976790 7:128480657-128480657 7:128840603-128840603
16 FLNC NM_001458.4(FLNC): c.2065G> T (p.Glu689Ter) single nucleotide variant Pathogenic rs1446694237 7:128481565-128481565 7:128841511-128841511
17 FLNC NM_001458.4(FLNC): c.7251+1G> A single nucleotide variant Pathogenic rs1554401581 7:128495369-128495369 7:128855315-128855315
18 FLNC NM_001458.4(FLNC): c.7536_7548del (p.Pro2513fs) deletion Pathogenic rs1554401837 7:128496950-128496962 7:128856896-128856908
19 FLNC NM_001458.4(FLNC): c.8130G> A (p.Trp2710Ter) single nucleotide variant Pathogenic rs121909518 7:128498529-128498529 7:128858475-128858475
20 FLNC NM_001458.4(FLNC): c.2789_2800del (p.Val930_Thr933del) deletion Pathogenic 7:128483609-128483620 7:128843555-128843566
21 FLNC NM_001458.4(FLNC): c.4621A> T (p.Lys1541Ter) single nucleotide variant Pathogenic 7:128488655-128488655 7:128848601-128848601
22 FLNC NM_001458.4(FLNC): c.4333_4336del (p.Gly1444_Lys1445insTer) deletion Pathogenic 7:128487795-128487798 7:128847741-128847744
23 FLNC NM_001458.4(FLNC): c.6447del (p.Ile2150fs) deletion Pathogenic 7:128493854-128493854 7:128853800-128853800
24 FLNC NC_000007.13: g.(?_128470672)_(128498597_?)del deletion Pathogenic 7:128470672-128498597 7:128830618-128858543
25 FLNC NM_001458.4(FLNC): c.5653A> T (p.Lys1885Ter) single nucleotide variant Pathogenic 7:128491399-128491399 7:128851345-128851345
26 FLNC NM_001458.4(FLNC): c.3937C> T (p.Arg1313Ter) single nucleotide variant Pathogenic 7:128486190-128486190 7:128846136-128846136
27 FLNC NM_001458.4(FLNC): c.5672delG (p.Gly1891Valfs) deletion Pathogenic 7:128491512-128491512 7:128851458-128851458
28 FLNC NM_001458.4(FLNC): c.554G> A (p.Trp185Ter) single nucleotide variant Pathogenic 7:128475581-128475581 7:128835527-128835527
29 FLNC NM_001458.4(FLNC): c.1861_1885dup (p.Arg629fs) duplication Pathogenic 7:128481269-128481270 7:128841217-128841241
30 FLNC NM_001458.4(FLNC): c.4729C> T (p.Gln1577Ter) single nucleotide variant Pathogenic 7:128488763-128488763 7:128848709-128848709
31 FLNC NM_001458.4(FLNC): c.5675_5678del (p.Leu1892fs) deletion Pathogenic 7:128491512-128491515 7:128851461-128851464
32 FLNC NM_001458.4(FLNC): c.5904dup (p.Ile1969fs) duplication Pathogenic 7:128492706-128492706 7:128852652-128852652
33 FLNC NM_001458.4(FLNC): c.6242dup (p.Ser2082fs) duplication Pathogenic 7:128493556-128493556 7:128853502-128853502
34 FLNC NM_001458.4(FLNC): c.6883C> T (p.Gln2295Ter) single nucleotide variant Pathogenic 7:128494622-128494622 7:128854568-128854568
35 FLNC NM_001458.4(FLNC): c.7365C> A (p.Tyr2455Ter) single nucleotide variant Pathogenic 7:128496685-128496685 7:128856631-128856631
36 FLNC NM_001458.4(FLNC): c.147delinsTCT (p.Lys51fs) indel Pathogenic 7:128470838-128470838 7:128830784-128830784
37 FLNC NM_001458.4(FLNC): c.7334_7335AC[2] (p.Pro2447fs) short repeat Pathogenic 7:128496653-128496654 7:128856600-128856601
38 FLNC NM_001458.4(FLNC): c.4127+1G> T single nucleotide variant Pathogenic 7:128486518-128486518 7:128846464-128846464
39 FLNC NM_001458.4(FLNC): c.4969C> T (p.Arg1657Ter) single nucleotide variant Pathogenic/Likely pathogenic 7:128489402-128489402 7:128849348-128849348
40 FLNC NM_001458.4(FLNC): c.3180del (p.Asp1061fs) deletion Pathogenic/Likely pathogenic rs1064795229 7:128484308-128484308 7:128844254-128844254
41 FLNC NM_001458.4(FLNC): c.3791-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs781135153 7:128486043-128486043 7:128845989-128845989
42 FLNC NM_001458.4(FLNC): c.3557C> T (p.Ala1186Val) single nucleotide variant Pathogenic/Likely pathogenic rs1114167361 7:128485076-128485076 7:128845022-128845022
43 FLNC NM_001458.4(FLNC): c.6997+1G> T single nucleotide variant Likely pathogenic 7:128494737-128494737 7:128854683-128854683
44 FLNC NM_001458.4(FLNC): c.2550+2T> C single nucleotide variant Likely pathogenic 7:128483010-128483010 7:128842956-128842956
45 FLNC NM_001458.4(FLNC): c.2265+1G> A single nucleotide variant Likely pathogenic 7:128482429-128482429 7:128842375-128842375
46 FLNC NM_001458.4(FLNC): c.7780+1G> A single nucleotide variant Likely pathogenic 7:128497391-128497391 7:128857337-128857337
47 FLNC NM_001458.4(FLNC): c.4952-2A> T single nucleotide variant Likely pathogenic 7:128489383-128489383 7:128849329-128849329
48 FLNC NM_001458.4(FLNC): c.3193-2A> G single nucleotide variant Likely pathogenic 7:128484710-128484710 7:128844656-128844656
49 FLNC NM_001458.4(FLNC): c.1548_1549+2del deletion Likely pathogenic 7:128480213-128480216 7:128840159-128840162
50 FLNC NM_001458.4(FLNC): c.2389+2T> C single nucleotide variant Likely pathogenic 7:128482754-128482754 7:128842700-128842700

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 11.57 FLNC FLNA
2 11.04 FLNC FLNA
3 10.89 FLNC FLNA
4 10.54 FLNC FLNA

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 9.26 XIRP2 XIRP1 FLNC FLNA
2 stress fiber GO:0001725 9.16 XIRP2 XIRP1
3 Z disc GO:0030018 9.02 XIRP2 NRAP MYOM1 FLNC FLNA

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

# Name GO ID Score Top Affiliating Genes
1 actin cytoskeleton organization GO:0030036 9.16 XIRP2 XIRP1
2 cardiac muscle tissue morphogenesis GO:0055008 8.96 XIRP2 MYOM1
3 cell junction assembly GO:0034329 8.62 FLNC FLNA

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

# Name GO ID Score Top Affiliating Genes
1 kinase binding GO:0019900 9.26 MYOM1 FLNA
2 actin binding GO:0003779 9.26 XIRP2 XIRP1 NRAP FLNA
3 muscle alpha-actinin binding GO:0051371 9.16 NRAP MYOM1
4 actin filament binding GO:0051015 9.02 XIRP2 XIRP1 NRAP MYOM1 FLNA

Sources for Myopathy, Myofibrillar, 5

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
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38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
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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
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