MCID: MYP082
MIFTS: 39

Myopathy, Myofibrillar, 2 malady

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

Aliases & Classifications for Myopathy, Myofibrillar, 2

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Aliases & Descriptions for Myopathy, Myofibrillar, 2:

Name: Myopathy, Myofibrillar, 2 50 68
Alpha-B Crystallinopathy 11 23 68 25 66
Myofibrillar Myopathy 2 11 13
Myofibrillar Myopathy with or Without Cataract and/or Cardiomyopathy 68
Myopathy Desmin-Related Associated with Mutation in the Cryab Gene 68
Alpha-B Crystallin-Related Myopathy, Myofibrillar Myopathy 2 23
Myopathy Cardioskeletal Desmin-Related with Cataract 68
 
Myopathy, Myofibrillar, Alpha-B Crystallin-Related 12
Myofibrillar Myopathy Alpha-B Crystallin-Related 68
Alpha-B Crystallinopathy with Cataract 68
Desmin-Related Myopathy with Cataract 68
Mfm Alpha-B Crystallin-Related 68
Mfm2 68

Characteristics:

HPO:

62
myopathy, myofibrillar, 2:
Inheritance: autosomal dominant inheritance
Onset and clinical course: adult onset, slow progression


Classifications:



External Ids:

OMIM50 608810
Disease Ontology11 DOID:0080093
MedGen35 C1837317
MeSH37 D020914

Summaries for Myopathy, Myofibrillar, 2

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OMIM:50 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:68 Myopathy, myofibrillar, 2: A neuromuscular disorder that results in 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 21)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy, myofibrillar, 130.6CRYAB, LDB3, MYOT
2myopathy, spheroid body10.3LDB3, MYOT
3cardiomyopathy, dilated, 1c, with or without lvnc10.3LDB3, MYOT
4myopathy, congenital, with fiber-type disproportion10.3ACTA1, MYH7
5dowling-degos disease10.2ACTA1, MYH7
6meige syndrome10.1CRYAB, MYH7
7stormorken syndrome10.0ACTA1, FLNC
8extraosseous ewing's sarcoma9.8ACTA1, CRYAB, MYH7, MYOT
9classic variant of chromophobe renal cell carcinoma9.7DMD, MYOT
10muscular dystrophy, rigid spine, 19.6ACTA1, DMD, MYH7
11microcephaly and chorioretinopathy 19.6ACTA1, DMD, MYH7
12myopathy, distal, 49.5DMD, FLNC, MYOT
13autoimmune disease of skin and connective tissue9.4DMD, MYH7
14ectodermal dysplasia9.3DMD, LDB3, MYH7
15autoimmune thyroid disease 29.3CRYAB, FLNC, LDB3, MYH7, MYOT
16longitudinal vaginal septum9.3CRYAB, DMD, LDB3, MYH7
17cornelia de lange syndrome9.3DMD, LDB3, MYH7, MYOT
18cardiovascular disease risk factor )9.2CRYAB, DMD, LDB3, MYH7
19epilepsy, generalized, with febrile seizures plus, type 19.1DMD, FLNC, MYH7, MYOT
20myostatin-related muscle hypertrophy9.1DMD, FLNC, LDB3, MYOT
21cataract 16, multiple types6.6ACTA1, CRYAB, DMD, FLNC, GSN, LDB3

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



Diseases related to myopathy, myofibrillar, 2

Symptoms for Myopathy, Myofibrillar, 2

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Symptoms by clinical synopsis from OMIM:

608810

Clinical features from OMIM:

608810

HPO human phenotypes related to Myopathy, Myofibrillar, 2:

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

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 Crystallinopathy25 23 CRYAB

Anatomical Context for Myopathy, Myofibrillar, 2

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Animal Models for Myopathy, Myofibrillar, 2 or affiliated genes

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MGI Mouse Phenotypes related to Myopathy, Myofibrillar, 2:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053697.7ACTA1, CRYAB, DMD, FLNC, LDB3, MYH7

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:

68
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)single nucleotide variantPathogenicrs104894201GRCh37Chr 11, 111779658: 111779658
2CRYABCRYAB, 2-BP DEL, 464CTdeletionPathogenic
3CRYABNM_001885.2(CRYAB): c.451C> T (p.Gln151Ter)single nucleotide variantPathogenicrs104894202GRCh37Chr 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)single nucleotide variantPathogenicrs387907339GRCh37Chr 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
19.3ACTA1, DMD
29.3ACTA1, DMD
3
Show member pathways
9.3ACTA1, GSN, MYH7
49.2ACTA1, 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:003001710.2ACTA1, MYH7
2sarcoplasmGO:001652810.1FLNC, GSN
3stress fiberGO:000172510.0ACTA1, MYH7
4costamereGO:00430349.1DMD, FLNC
5myofibrilGO:00300169.0DMD, MYH7
6actin cytoskeletonGO:00156299.0ACTA1, GSN, MYOT, SYNPO2
7sarcolemmaGO:00423838.8DMD, FLNC, MYOT
8Z discGO:00300187.1CRYAB, 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:00600489.4DMD, MYH7
2muscle fiber developmentGO:00487479.3DMD, FLNC
3regulation of heart rateGO:00020279.3DMD, MYH7
4muscle filament slidingGO:00300499.1ACTA1, DMD, MYH7
5muscle contractionGO:00069368.8ACTA1, CRYAB, MYH7, MYOT
6agingGO:00075688.8CRYAB, DMD, GSN

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

idNameGO IDScoreTop Affiliating Genes
1muscle alpha-actinin bindingGO:005137110.3LDB3, SYNPO2
2structural constituent of muscleGO:00083079.8DMD, MYOT
3myosin bindingGO:00170229.8ACTA1, DMD
4cytoskeletal protein bindingGO:00080929.8CRYAB, FLNC, LDB3
5actin bindingGO:00037798.4DMD, GSN, MYH7, MYOT, SYNPO2
6protein bindingGO:00055155.8ACTA1, CRYAB, DMD, FLNC, GSN, LDB3

Sources for Myopathy, Myofibrillar, 2

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet