MFM2
MCID: MYP082
MIFTS: 39

Myopathy, Myofibrillar, 2 (MFM2) malady

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

Aliases & Classifications for Myopathy, Myofibrillar, 2

Aliases & Descriptions for Myopathy, Myofibrillar, 2:

Name: Myopathy, Myofibrillar, 2 54 66
Alpha-B Crystallinopathy 12 24 66 29 69
Myofibrillar Myopathy 2 12 14
Myofibrillar Myopathy with or Without Cataract and/or Cardiomyopathy 66
Myopathy Desmin-Related Associated with Mutation in the Cryab Gene 66
Alpha-B Crystallin-Related Myopathy, Myofibrillar Myopathy 2 24
Alpha-B Crystallin-Related Late-Onset Distal Myopathy 56
Myopathy Cardioskeletal Desmin-Related with Cataract 66
Myopathy, Myofibrillar, Alpha-B Crystallin-Related 13
Myofibrillar Myopathy Alpha-B Crystallin-Related 66
Alpha-B Crystallinopathy with Cataract 66
Desmin-Related Myopathy with Cataract 66
Late-Onset Distal Crystallinopathy 56
Mfm Alpha-B Crystallin-Related 66
Mfm2 66

Characteristics:

HPO:

32
myopathy, myofibrillar, 2:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset slow progression


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 608810
Disease Ontology 12 DOID:0080093
Orphanet 56 ORPHA399058
ICD10 via Orphanet 34 G71.0
MedGen 40 C1837317
MeSH 42 D020914

Summaries for Myopathy, Myofibrillar, 2

OMIM : 54 Alpha-B crystallin-related myofibrillar myopathy is an autosomal dominant muscular disorder characterized by adult... (608810) more...

MalaCards based summary : Myopathy, Myofibrillar, 2, also known as alpha-b crystallinopathy, is related to myopathy, myofibrillar, 1 and myopathy, early-onset, with fatal cardiomyopathy, 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 : 66 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, 3
Myopathy, Myofibrillar, 5 Myopathy, Myofibrillar, 4
Myopathy, Myofibrillar, 6 Myopathy, Myofibrillar, 2
Myofibrillar Myopathy 7 Dnajb6-Related Myofibrillar Myopathy
Fhl1-Related Myofibrillar Myopathy Myopathy, Myofibrillar, 8

Diseases related to Myopathy, Myofibrillar, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
id Related Disease Score Top Affiliating Genes
1 myopathy, myofibrillar, 1 11.2
2 myopathy, early-onset, with fatal cardiomyopathy 10.2 LDB3 MYOT
3 polyposis syndrome, hereditary mixed, 2 10.2 LDB3 MYOT
4 autoimmune thyroid disease 2 10.2 LDB3 MYOT
5 myopathy, congenital, with fiber-type disproportion 10.2 ACTA1 MYH7
6 autosomal recessive nonsyndromic deafness 47 10.1 DMD LDB3
7 myopathy, spheroid body 10.1 FLNC MYOT
8 cardiomyopathy, dilated, 1aa, with or without lvnc 10.1 DMD LDB3
9 autosomal recessive limb-girdle muscular dystrophy type 2f 10.1 FLNC MYOT
10 cardiomyopathy, familial restrictive, 3 10.1 DMD LDB3
11 lipodystrophy, familial partial, 2 10.1 DMD LDB3
12 dowling-degos disease 10.0 ACTA1 MYH7
13 segawa syndrome, recessive 10.0 ACTA1 FLNC
14 myopathy, distal, with anterior tibial onset 10.0 DMD MYOT
15 lyme disease 10.0 DMD MYH7 MYOT
16 epilepsy, generalized, with febrile seizures plus, type 1 10.0 MYH7 MYOT
17 allergic bronchopulmonary aspergillosis, familial 10.0 APP GSN LDB3
18 cardiomyopathy, dilated, 1i 10.0 CRYAB FLNC LDB3 MYOT
19 muscular dystrophy, rigid spine, 1 10.0 ACTA1 DMD MYH7
20 microcephaly and chorioretinopathy 1 10.0 ACTA1 DMD MYH7
21 microcephaly and chorioretinopathy 2 10.0 ACTA1 DMD MYH7
22 inflammatory bowel disease 14 10.0 DMD FLNC MYOT
23 primary cutaneous gamma/delta-positive t-cell lymphoma 9.9 CRYAB DMD LDB3 MYH7
24 emery-dreifuss muscular dystrophy, dominant type 9.8 CRYAB DMD LDB3 MYH7
25 celiac disease 2 9.8 CRYAB FLNC LDB3 MYH7 MYOT
26 nonsyndromic hearing loss and deafness, mitochondrial 9.7 CRYAB DMD FLNC LDB3 MYOT
27 cdkl5-related angelman-like syndrome 9.7 CRYAB DMD FLNC LDB3 MYH7
28 spindle cell sarcoma 9.7 ACTA1 CRYAB FLNC LDB3 MYH7 MYOT
29 myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related 8.6 ACTA1 APP CRYAB DMD FLNC GSN

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 by clinical synopsis from OMIM:

608810

Clinical features from OMIM:

608810

Human phenotypes related to Myopathy, Myofibrillar, 2:

32 (show all 14)
id Description HPO Frequency HPO Source Accession
1 cataract 32 HP:0000518
2 hypertrophic cardiomyopathy 32 HP:0001639
3 respiratory insufficiency due to muscle weakness 32 HP:0002747
4 elevated serum creatine phosphokinase 32 HP:0003236
5 late-onset proximal muscle weakness 32 HP:0003694
6 muscular dystrophy 32 HP:0003560
7 distal muscle weakness 32 HP:0002460
8 foot dorsiflexor weakness 32 HP:0009027
9 neck muscle weakness 32 HP:0000467
10 muscle fiber splitting 32 HP:0003555
11 autophagic vacuoles 32 HP:0003736
12 limb-girdle muscle weakness 32 HP:0003325
13 emg 32 HP:0003458
14 decreased achilles reflex 32 HP:0009072

MGI Mouse Phenotypes related to Myopathy, Myofibrillar, 2:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.17 MYH7 ACTA1 APP CRYAB DMD FLNC

Drugs & Therapeutics for Myopathy, Myofibrillar, 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 Mechanisms of Age-Related Muscle Loss Completed NCT03113279
2 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

Search NIH Clinical Center for Myopathy, Myofibrillar, 2

Genetic Tests for Myopathy, Myofibrillar, 2

Genetic tests related to Myopathy, Myofibrillar, 2:

id Genetic test Affiliating Genes
1 Alpha-B Crystallinopathy 29 24 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:

66
id Symbol AA change Variation ID SNP ID
1 CRYAB p.Arg120Gly VAR_007899 rs28929489
2 CRYAB p.Asp109His VAR_069528 rs387907339

ClinVar genetic disease variations for Myopathy, Myofibrillar, 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CRYAB NM_001885.2(CRYAB): c.358A> G (p.Arg120Gly) single nucleotide variant Pathogenic rs104894201 GRCh37 Chromosome 11, 111779658: 111779658
2 CRYAB CRYAB, 2-BP DEL, 464CT deletion Pathogenic
3 CRYAB NM_001885.2(CRYAB): c.451C> T (p.Gln151Ter) single nucleotide variant Pathogenic rs104894202 GRCh37 Chromosome 11, 111779565: 111779565
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:

id Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.85 ACTA1 DMD FLNC GSN LDB3 MYOT
2 cytoplasm GO:0005737 9.7 ACTA1 APP CRYAB DMD FLNC GSN
3 sarcolemma GO:0042383 9.58 DMD FLNC MYOT
4 actin cytoskeleton GO:0015629 9.56 ACTA1 GSN MYOT SYNPO2
5 sarcomere GO:0030017 9.48 ACTA1 MYH7
6 myofibril GO:0030016 9.46 DMD MYH7
7 costamere GO:0043034 9.43 DMD FLNC
8 stress fiber GO:0001725 9.33 ACTA1 MYH7 SYNPO2
9 sarcoplasm GO:0016528 9.32 FLNC GSN
10 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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 structural constituent of muscle GO:0008307 9.37 DMD MYOT
2 myosin binding GO:0017022 9.32 ACTA1 DMD
3 alpha-actinin binding GO:0051393 9.26 MYOT SYNPO2
4 muscle alpha-actinin binding GO:0051371 9.16 LDB3 SYNPO2
5 cytoskeletal protein binding GO:0008092 9.13 CRYAB FLNC LDB3
6 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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