MCID: MYP082
MIFTS: 38

Myopathy, Myofibrillar, 2

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

Aliases & Classifications for Myopathy, Myofibrillar, 2

MalaCards integrated aliases for Myopathy, Myofibrillar, 2:

Name: Myopathy, Myofibrillar, 2 53 71
Alpha-B Crystallinopathy 53 12 71 28 69
Myopathy, Myofibrillar, Alpha-B Crystallin-Related 53 13
Myofibrillar Myopathy 2 12 14
Mfm2 53 71
Myopathy, Myofibrillar, with or Without Cataract and/or Cardiomyopathy 53
Myopathy, Desmin-Related, Associated with Mutation in the Cryab Gene 53
Myofibrillar Myopathy with or Without Cataract and/or Cardiomyopathy 71
Myopathy Desmin-Related Associated with Mutation in the Cryab Gene 71
Alpha-B Crystallin-Related Late-Onset Distal Myopathy 55
Myopathy Cardioskeletal Desmin-Related with Cataract 71
Myofibrillar Myopathy Alpha-B Crystallin-Related 71
Alpha-B Crystallinopathy with Cataract 71
Desmin-Related Myopathy with Cataract 71
Late-Onset Distal Crystallinopathy 55
Mfm Alpha-B Crystallin-Related 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
adult onset
slowly progressive
clinical variability
two patients without cardiomyopathy or cataracts have been reported


HPO:

31
myopathy, myofibrillar, 2:
Onset and clinical course adult onset slow progression
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

OMIM 53 608810
Disease Ontology 12 DOID:0080093
Orphanet 55 ORPHA399058
ICD10 via Orphanet 33 G71.0
MedGen 39 C1837317
MeSH 41 D020914
UMLS 69 C1837317

Summaries for Myopathy, Myofibrillar, 2

OMIM : 53 Alpha-B crystallin-related myofibrillar myopathy is an autosomal dominant muscular disorder characterized by adult onset of progressive muscle weakness affecting both the proximal and distal muscles and associated with respiratory insufficiency, cardiomyopathy, and cataracts. There is phenotypic variability both within and between families (Fardeau et al., 1978; Selcen and Engel, 2003). A homozygous founder mutation in the CRYAB gene has been identified in Canadian aboriginal infants of Cree origin who have a severe fatal infantile hypertonic form of myofibrillar myopathy; see 613869. For a phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419). (608810)

MalaCards based summary : Myopathy, Myofibrillar, 2, also known as alpha-b crystallinopathy, is related to myopathy, myofibrillar, 4 and muscular dystrophy, limb-girdle, type 2j, and has symptoms including cataract, hypertrophic cardiomyopathy and respiratory insufficiency due to muscle weakness. An important gene associated with Myopathy, Myofibrillar, 2 is CRYAB (Crystallin Alpha B), and among its related pathways/superpathways are RhoGDI Pathway and Apoptosis and survival Caspase cascade. Related phenotype is muscle.

UniProtKB/Swiss-Prot : 71 Myopathy, myofibrillar, 2: A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disc and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM2 is characterized by weakness of the proximal and distal limb muscles, weakness of the neck, velopharynx and trunk muscles, hypertrophic cardiomyopathy, and cataract in a subset of patients.

Related Diseases for Myopathy, Myofibrillar, 2

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

(show all 29)
# Related Disease Score Top Affiliating Genes
1 myopathy, myofibrillar, 4 10.3 LDB3 MYOT
2 muscular dystrophy, limb-girdle, type 2j 10.3 LDB3 MYOT
3 myopathy, congenital, with fiber-type disproportion 10.2 ACTA1 MYH7
4 scapuloperoneal myopathy 10.2 ACTA1 MYH7
5 muscular dystrophy, limb-girdle, type 1a 10.2 FLNC MYOT
6 myopathy, myofibrillar, 1 10.2 CRYAB LDB3 MYOT
7 autosomal dominant limb-girdle muscular dystrophy 10.2 FLNC MYOT
8 cardiomyopathy, dilated, 1b 10.1 DMD LDB3
9 muscular dystrophy, congenital, 1b 10.1 DMD LDB3
10 myopathy, myofibrillar, 3 10.1 FLNC LDB3 MYOT
11 restrictive cardiomyopathy 10.0 CRYAB FLNC MYH7
12 cardiomyopathy, dilated, 1d 10.0 DMD LDB3
13 myopathy, tubular aggregate, 1 10.0 ACTA1 FLNC
14 cardiomyopathy, dilated, 1a 10.0 DMD LDB3
15 leukoencephalopathy, hereditary diffuse, with spheroids 10.0 APP CRYAB
16 muscular dystrophy, limb-girdle, type 2b 9.9 DMD MYOT
17 distal muscular dystrophy 9.9 DMD MYH7 MYOT
18 atrial standstill 1 9.9 DMD MYH7 MYOT
19 myopathy, congenital 9.9 ACTA1 DMD MYH7
20 rigid spine muscular dystrophy 1 9.8 ACTA1 DMD MYH7
21 congenital fiber-type disproportion 9.8 ACTA1 DMD MYH7
22 intrinsic cardiomyopathy 9.8 DMD MYH7
23 familial isolated dilated cardiomyopathy 9.7 CRYAB DMD LDB3 MYH7
24 inclusion body myositis 9.7 APP GSN LDB3
25 myopathy, spheroid body 9.6 CRYAB FLNC LDB3 MYH7 MYOT
26 dilated cardiomyopathy 9.6 CRYAB DMD LDB3 MYH7
27 pick disease of brain 9.5 APP CRYAB
28 myofibrillar myopathy 9.4 CRYAB DMD FLNC LDB3 MYOT
29 myopathy 8.9 ACTA1 CRYAB DMD FLNC LDB3 MYH7

Graphical network of the top 20 diseases related to Myopathy, Myofibrillar, 2:



Diseases related to Myopathy, Myofibrillar, 2

Symptoms & Phenotypes for Myopathy, Myofibrillar, 2

Symptoms via clinical synopsis from OMIM:

53
Respiratory:
respiratory insufficiency due to muscle weakness

Head And Neck Eyes:
cataracts

Cardiovascular Heart:
cardiomyopathy, hypertrophic

Muscle Soft Tissue:
neck muscle weakness
autophagic vacuoles
foot drop
emg shows myopathic changes
fiber size variation
more
Laboratory Abnormalities:
increased serum creatine kinase


Clinical features from OMIM:

608810

Human phenotypes related to Myopathy, Myofibrillar, 2:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 cataract 31 HP:0000518
2 hypertrophic cardiomyopathy 31 HP:0001639
3 respiratory insufficiency due to muscle weakness 31 HP:0002747
4 elevated serum creatine phosphokinase 31 HP:0003236
5 late-onset proximal muscle weakness 31 HP:0003694
6 muscular dystrophy 31 HP:0003560
7 distal muscle weakness 31 HP:0002460
8 foot dorsiflexor weakness 31 HP:0009027
9 neck muscle weakness 31 HP:0000467
10 muscle fiber splitting 31 HP:0003555
11 autophagic vacuoles 31 HP:0003736
12 limb-girdle muscle weakness 31 HP:0003325
13 emg 31 HP:0003458
14 decreased achilles reflex 31 HP:0009072

MGI Mouse Phenotypes related to Myopathy, Myofibrillar, 2:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.17 LDB3 MYH7 ACTA1 APP CRYAB DMD

Drugs & Therapeutics for Myopathy, Myofibrillar, 2

Search Clinical Trials , NIH Clinical Center for Myopathy, Myofibrillar, 2

Genetic Tests for Myopathy, Myofibrillar, 2

Genetic tests related to Myopathy, Myofibrillar, 2:

# Genetic test Affiliating Genes
1 Alpha-B Crystallinopathy 28 CRYAB

Anatomical Context for Myopathy, Myofibrillar, 2

Publications for Myopathy, Myofibrillar, 2

Variations for Myopathy, Myofibrillar, 2

UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Myofibrillar, 2:

71
# Symbol AA change Variation ID SNP ID
1 CRYAB p.Arg120Gly VAR_007899 rs104894201
2 CRYAB p.Asp109His VAR_069528 rs387907339

ClinVar genetic disease variations for Myopathy, Myofibrillar, 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CRYAB NM_001885.2(CRYAB): c.451C> T (p.Gln151Ter) single nucleotide variant Pathogenic rs104894202 GRCh38 Chromosome 11, 111908841: 111908841
2 CRYAB NM_001885.2(CRYAB): c.358A> G (p.Arg120Gly) single nucleotide variant Pathogenic rs104894201 GRCh37 Chromosome 11, 111779658: 111779658
3 CRYAB CRYAB, 2-BP DEL, 464CT deletion Pathogenic
4 CRYAB NM_001885.2(CRYAB): c.60delC (p.Ser21Alafs) deletion Pathogenic rs281865141 GRCh37 Chromosome 11, 111782389: 111782389
5 CRYAB NM_001885.2(CRYAB): c.343delT (p.Ser115Profs) deletion Pathogenic rs281865142 GRCh37 Chromosome 11, 111779673: 111779673
6 CRYAB NM_001885.2(CRYAB): c.325G> C (p.Asp109His) single nucleotide variant Pathogenic rs387907339 GRCh37 Chromosome 11, 111779691: 111779691

Expression for Myopathy, Myofibrillar, 2

Search GEO for disease gene expression data for Myopathy, Myofibrillar, 2.

Pathways for Myopathy, Myofibrillar, 2

GO Terms for Myopathy, Myofibrillar, 2

Cellular components related to Myopathy, Myofibrillar, 2 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.9 ACTA1 APP CRYAB DMD FLNC GSN
2 perinuclear region of cytoplasm GO:0048471 9.81 APP DMD GSN LDB3
3 lamellipodium GO:0030027 9.65 ACTA1 DMD GSN
4 actin cytoskeleton GO:0015629 9.62 ACTA1 GSN MYOT SYNPO2
5 sarcolemma GO:0042383 9.61 DMD FLNC MYOT
6 sarcomere GO:0030017 9.52 ACTA1 MYH7
7 cytoskeleton GO:0005856 9.5 ACTA1 DMD FLNC GSN LDB3 MYOT
8 myofibril GO:0030016 9.49 DMD MYH7
9 costamere GO:0043034 9.46 DMD FLNC
10 stress fiber GO:0001725 9.43 ACTA1 MYH7 SYNPO2
11 sarcoplasm GO:0016528 9.4 FLNC GSN
12 astrocyte projection GO:0097449 9.37 APP DMD
13 Z disc GO:0030018 9.17 CRYAB DMD FLNC LDB3 MYH7 MYOT

Biological processes related to Myopathy, Myofibrillar, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 aging GO:0007568 9.5 CRYAB DMD GSN
2 cardiac muscle contraction GO:0060048 9.4 DMD MYH7
3 regulation of heart rate GO:0002027 9.37 DMD MYH7
4 muscle fiber development GO:0048747 9.26 DMD FLNC
5 amyloid fibril formation GO:1990000 9.16 APP GSN
6 muscle filament sliding GO:0030049 9.13 ACTA1 DMD MYH7
7 muscle contraction GO:0006936 8.92 ACTA1 CRYAB MYH7 MYOT

Molecular functions related to Myopathy, Myofibrillar, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.54 FLNC GSN MYH7
2 structural constituent of muscle GO:0008307 9.4 DMD MYOT
3 myosin binding GO:0017022 9.32 ACTA1 DMD
4 alpha-actinin binding GO:0051393 9.26 MYOT SYNPO2
5 muscle alpha-actinin binding GO:0051371 9.16 LDB3 SYNPO2
6 cytoskeletal protein binding GO:0008092 9.13 CRYAB FLNC LDB3
7 actin binding GO:0003779 9.02 DMD GSN MYH7 MYOT SYNPO2

Sources for Myopathy, Myofibrillar, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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