MCID: MYP082
MIFTS: 37

Myopathy, Myofibrillar, 2 malady

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

Aliases & Classifications for Myopathy, Myofibrillar, 2

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Aliases & Descriptions for Myopathy, Myofibrillar, 2:

Name: Myopathy, Myofibrillar, 2 52 70
Alpha-B Crystallinopathy 11 24 70 27 68
Myofibrillar Myopathy 2 11 13
Myofibrillar Myopathy with or Without Cataract and/or Cardiomyopathy 70
Myopathy Desmin-Related Associated with Mutation in the Cryab Gene 70
Alpha-B Crystallin-Related Myopathy, Myofibrillar Myopathy 2 24
Alpha-B Crystallin-Related Late-Onset Distal Myopathy 54
Myopathy Cardioskeletal Desmin-Related with Cataract 70
 
Myopathy, Myofibrillar, Alpha-B Crystallin-Related 12
Myofibrillar Myopathy Alpha-B Crystallin-Related 70
Alpha-B Crystallinopathy with Cataract 70
Desmin-Related Myopathy with Cataract 70
Late-Onset Distal Crystallinopathy 54
Mfm Alpha-B Crystallin-Related 70
Mfm2 70

Characteristics:

HPO:

64
myopathy, myofibrillar, 2:
Inheritance: autosomal dominant inheritance
Onset and clinical course: adult onset, slow progression

Classifications:



External Ids:

OMIM52 608810
Disease Ontology11 DOID:0080093
Orphanet54 ORPHA399058
ICD10 via Orphanet31 G71.0
MedGen37 C1837317
MeSH39 D020914

Summaries for Myopathy, Myofibrillar, 2

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OMIM:52 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, spheroid body, and has symptoms including neck muscle weakness, cataract and hypertrophic cardiomyopathy. An important gene associated with Myopathy, Myofibrillar, 2 is CRYAB (Crystallin Alpha B), and among its related pathways are Striated Muscle Contraction and Muscular Dystrophies and Dystrophin-Glycoprotein Complex. Related mouse phenotype muscle.

UniProtKB/Swiss-Prot:70 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

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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

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

(show all 19)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy, myofibrillar, 131.9CRYAB, LDB3, MYOT
2myopathy, spheroid body10.3LDB3, MYOT
3cardiomyopathy, dilated, 1c, with or without lvnc10.3LDB3, MYOT
4myopathy, congenital, with fiber-type disproportion10.1ACTA1, MYH7
5meige syndrome10.0CRYAB, MYH7
6stormorken syndrome9.9ACTA1, FLNC
7classic variant of chromophobe renal cell carcinoma9.7DMD, MYOT
8extraosseous ewing's sarcoma9.7ACTA1, CRYAB, MYH7, MYOT
9muscular dystrophy, rigid spine, 19.6ACTA1, DMD, MYH7
10microcephaly and chorioretinopathy 19.5ACTA1, DMD, MYH7
11myopathy, distal, 49.5DMD, FLNC, MYOT
12ectodermal dysplasia9.4DMD, LDB3, MYH7
13autoimmune disease of skin and connective tissue9.4DMD, MYH7
14longitudinal vaginal septum9.4CRYAB, DMD, LDB3, MYH7
15autoimmune thyroid disease 29.4CRYAB, FLNC, LDB3, MYH7, MYOT
16cardiovascular disease risk factor )9.3CRYAB, DMD, LDB3, MYH7
17myostatin-related muscle hypertrophy9.2DMD, FLNC, LDB3, MYOT
18epilepsy, generalized, with febrile seizures plus, type 19.2DMD, FLNC, MYH7, MYOT
19cataract 16, multiple types6.9ACTA1, CRYAB, DMD, FLNC, GSN, LDB3

Graphical network of diseases related to Myopathy, Myofibrillar, 2:



Diseases related to myopathy, myofibrillar, 2

Symptoms & Phenotypes for Myopathy, Myofibrillar, 2

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Symptoms by clinical synopsis from OMIM:

608810

Clinical features from OMIM:

608810

Human phenotypes related to Myopathy, Myofibrillar, 2:

 64 (show all 14)
id Description HPO Frequency HPO Source Accession
1 neck muscle weakness64 HP:0000467
2 cataract64 HP:0000518
3 hypertrophic cardiomyopathy64 HP:0001639
4 distal muscle weakness64 HP:0002460
5 respiratory insufficiency due to muscle weakness64 HP:0002747
6 elevated serum creatine phosphokinase64 HP:0003236
7 limb-girdle muscle weakness64 HP:0003325
8 emg64 HP:0003458
9 muscle fiber splitting64 HP:0003555
10 muscular dystrophy64 HP:0003560
11 late-onset proximal muscle weakness64 HP:0003694
12 autophagic vacuoles64 HP:0003736
13 foot dorsiflexor weakness64 HP:0009027
14 decreased achilles reflex64 HP:0009072

MGI Mouse Phenotypes related to Myopathy, Myofibrillar, 2 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053697.7ACTA1, CRYAB, DMD, FLNC, LDB3, MYH7

Drugs & Therapeutics for Myopathy, Myofibrillar, 2

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Interventional clinical trials:

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

Genetic Tests for Myopathy, Myofibrillar, 2

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Genetic tests related to Myopathy, Myofibrillar, 2:

id Genetic test Affiliating Genes
1 Alpha-B Crystallinopathy27 24 CRYAB

Anatomical Context for Myopathy, Myofibrillar, 2

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Publications for Myopathy, Myofibrillar, 2

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Variations for Myopathy, Myofibrillar, 2

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

70
id Symbol AA change Variation ID SNP ID
1CRYABp.Arg120GlyVAR_007899rs28929489
2CRYABp.Asp109HisVAR_069528rs387907339

Clinvar genetic disease variations for Myopathy, Myofibrillar, 2:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CRYABNM_001885.2(CRYAB): c.358A> G (p.Arg120Gly)SNVPathogenicrs104894201GRCh37Chr 11, 111779658: 111779658
2CRYABCRYAB, 2-BP DEL, 464CTdeletionPathogenicChr na, -1: -1
3CRYABNM_001885.2(CRYAB): c.451C> T (p.Gln151Ter)SNVPathogenicrs104894202GRCh37Chr 11, 111779565: 111779565
4CRYABNM_001885.2(CRYAB): c.60delC (p.Ser21Alafs)deletionPathogenicrs281865141GRCh37Chr 11, 111782389: 111782389
5CRYABNM_001885.2(CRYAB): c.343delT (p.Ser115Profs)deletionPathogenicrs281865142GRCh37Chr 11, 111779673: 111779673
6CRYABNM_001885.2(CRYAB): c.325G> C (p.Asp109His)SNVPathogenicrs387907339GRCh37Chr 11, 111779691: 111779691

Expression for genes affiliated with Myopathy, Myofibrillar, 2

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

Pathways for genes affiliated with Myopathy, Myofibrillar, 2

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

idSuper pathwaysScoreTop Affiliating Genes
19.2ACTA1, DMD
29.2ACTA1, DMD
3
Show member pathways
9.2ACTA1, GSN, MYH7
49.1ACTA1, FLNC, GSN

GO Terms for genes affiliated with Myopathy, Myofibrillar, 2

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

idNameGO IDScoreTop Affiliating Genes
1sarcomereGO:003001710.3ACTA1, MYH7
2stress fiberGO:000172510.2ACTA1, MYH7
3sarcoplasmGO:001652810.1FLNC, GSN
4myofibrilGO:00300169.9DMD, MYH7
5costamereGO:00430349.8DMD, FLNC
6sarcolemmaGO:00423839.4DMD, FLNC, MYOT
7actin cytoskeletonGO:00156299.4ACTA1, GSN, MYOT, SYNPO2
8Z discGO:00300187.3CRYAB, DMD, FLNC, LDB3, MYH7, MYOT

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

idNameGO IDScoreTop Affiliating Genes
1cardiac muscle contractionGO:00600489.9DMD, MYH7
2muscle fiber developmentGO:00487479.6DMD, FLNC
3muscle contractionGO:00069369.6ACTA1, CRYAB, MYH7, MYOT
4agingGO:00075689.5CRYAB, DMD, GSN
5muscle filament slidingGO:00300499.3ACTA1, DMD, MYH7
6regulation of heart rateGO:00020279.3DMD, MYH7

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

idNameGO IDScoreTop Affiliating Genes
1muscle alpha-actinin bindingGO:005137110.4LDB3, SYNPO2
2cytoskeletal protein bindingGO:000809210.1CRYAB, FLNC, LDB3
3myosin bindingGO:001702210.1ACTA1, DMD
4structural constituent of muscleGO:00083079.3DMD, MYOT
5actin bindingGO:00037798.8DMD, GSN, MYH7, MYOT, SYNPO2
6protein bindingGO:00055156.2ACTA1, CRYAB, DMD, FLNC, GSN, LDB3

Sources for Myopathy, Myofibrillar, 2

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet