MCID: MYP082
MIFTS: 38

Myopathy, Myofibrillar, 2 malady

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

Aliases & Classifications for Myopathy, Myofibrillar, 2

About this section

Aliases & Descriptions for Myopathy, Myofibrillar, 2:

Name: Myopathy, Myofibrillar, 2 49 67
Alpha-B Crystallinopathy 10 22 67 24 65
Myofibrillar Myopathy 2 10 12
Myofibrillar Myopathy with or Without Cataract and/or Cardiomyopathy 67
Myopathy Desmin-Related Associated with Mutation in the Cryab Gene 67
Alpha-B Crystallin-Related Myopathy, Myofibrillar Myopathy 2 22
Myopathy Cardioskeletal Desmin-Related with Cataract 67
 
Myopathy, Myofibrillar, Alpha-B Crystallin-Related 11
Myofibrillar Myopathy Alpha-B Crystallin-Related 67
Alpha-B Crystallinopathy with Cataract 67
Desmin-Related Myopathy with Cataract 67
Mfm Alpha-B Crystallin-Related 67
Mfm2 67

Characteristics:

HPO:

61
myopathy, myofibrillar, 2:
Inheritance: autosomal dominant inheritance
Onset and clinical course: adult onset, slow progression


Classifications:



External Ids:

OMIM49 608810
Disease Ontology10 DOID:0080093
MedGen34 C1837317
MeSH36 D020914
UMLS65 C1837317

Summaries for Myopathy, Myofibrillar, 2

About this section
OMIM:49 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 cardiomyopathy, dilated, 1c, with or without lvnc, 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 Muscular Dystrophies and Dystrophin-Glycoprotein Complex and RhoGDI Pathway. Related mouse phenotypes are cardiovascular system and muscle.

UniProtKB/Swiss-Prot:67 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

About this section

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 28)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy, myofibrillar, 131.0CRYAB, DES, LDB3, MYOT
2cardiomyopathy, dilated, 1c, with or without lvnc10.3LDB3, MYOT
3myopathy, congenital, with fiber-type disproportion10.2ACTA1, MYH7
4myopathy, myofibrillar, 310.2FLNC, MYOT
5robinow syndrome10.2ACTA1, MYH7
6cylindrical spirals myopathy10.1ACTA1, MYH7
7stormorken syndrome10.1ACTA1, FLNC
8extrinsic cardiomyopathy10.1DES, MYH7
9cellular schwannoma10.0DES, NES
10cardiomyopathy, hypertrophic, 2510.0DMD, MYOT
11muscular dystrophy, rigid spine, 110.0ACTA1, DMD
12congenital fiber-type disproportion10.0ACTA1, MYH7
13muscular dystrophy, limb-girdle, type 2b10.0DMD, MYOT
14cartilage disease10.0DMD, MYOT
15dermatosis papulosa nigra9.8DES, DMD, MYOT
16minicore myopathy with external ophthalmoplegia9.7DES, FLNC, MYH7, MYOT
17specific developmental disorder9.7DMD, MYH7
18kummell's disease9.6DMD, MYOT
19limb-girdle muscular dystrophy9.6DES, DMD, MYH7, MYOT
20myopathy, distal, 49.5DES, DMD, FLNC, MYOT
21drug-induced hepatitis9.5DES, DMD, LDB3, MYH7
22myopathy with deficiency of iscu9.4ACTA1, CRYAB, DES, FLNC, LDB3, MYOT
23myopathy, spheroid body9.4FLNC, LDB3, MYH7, MYOT, SYNPO2
24autoimmune thyroid disease 29.4CRYAB, DES, FLNC, LDB3, MYH7, MYOT
25transverse vaginal septum9.4CRYAB, DES, DMD, LDB3, MYH7
26histiocytoma9.1ACTA1, CRYAB, DES, FLNC, LDB3, MYH7
27cardiomyopathy with or without skeletal myopathy9.1CRYAB, DES, DMD, LDB3, MYH7, MYOT
28cataract 16, multiple types7.6ACTA1, CRYAB, DES, DMD, FLNC, GSN

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



Diseases related to myopathy, myofibrillar, 2

Symptoms for Myopathy, Myofibrillar, 2

About this section

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

About this section

Interventional clinical trials:

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

Genetic Tests for Myopathy, Myofibrillar, 2

About this section

Genetic tests related to Myopathy, Myofibrillar, 2:

id Genetic test Affiliating Genes
1 Alpha-B Crystallinopathy22 CRYAB

Anatomical Context for Myopathy, Myofibrillar, 2

About this section

Animal Models for Myopathy, Myofibrillar, 2 or affiliated genes

About this section

MGI Mouse Phenotypes related to Myopathy, Myofibrillar, 2:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053857.6DES, DMD, FLNC, GSN, LDB3, MYH7
2MP:00053697.1ACTA1, CRYAB, DES, DMD, FLNC, LDB3

Publications for Myopathy, Myofibrillar, 2

About this section

Variations for Myopathy, Myofibrillar, 2

About this section

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

67
id Symbol AA change Variation ID SNP ID
1CRYABp.Arg120GlyVAR_007899rs28929489
2CRYABp.Asp109HisVAR_069528

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
7CRYABNM_001885.2(CRYAB): c.325-2A> Gsingle nucleotide variantLikely pathogenicrs202024436GRCh37Chr 11, 111779693: 111779693
8CRYABNM_001885.2(CRYAB): c.3G> A (p.Met1Ile)single nucleotide variantLikely pathogenicrs397516686GRCh37Chr 11, 111782446: 111782446

Expression for genes affiliated with Myopathy, Myofibrillar, 2

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

Pathways for genes affiliated with Myopathy, Myofibrillar, 2

About this section

GO Terms for genes affiliated with Myopathy, Myofibrillar, 2

About this section

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

idNameGO IDScoreTop Affiliating Genes
1sarcolemmaGO:00423839.8DES, MYOT
2intermediate filament cytoskeletonGO:00451119.6DES, NES
3cytoskeletonGO:00058569.3DES, FLNC, LDB3
4actin cytoskeletonGO:00156298.8ACTA1, DMD, SYNPO2

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

idNameGO IDScoreTop Affiliating Genes
1muscle contractionGO:00069369.8ACTA1, CRYAB

Sources for Myopathy, Myofibrillar, 2

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet