MCID: MYP082
MIFTS: 20

Myopathy, Myofibrillar, 2 malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Aliases & Classifications for Myopathy, Myofibrillar, 2

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Aliases & Descriptions for Myopathy, Myofibrillar, 2:

Name: Myopathy, Myofibrillar, 2 46
Alpha-B Crystallinopathy 20 22 61
 
Myopathy, Myofibrillar, Alpha-B Crystallin-Related 9


Classifications:



External Ids:

OMIM46 608810

Summaries for Myopathy, Myofibrillar, 2

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OMIM:46 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 has symptoms including autosomal dominant inheritance, neck muscle weakness and cataract. An important gene associated with Myopathy, Myofibrillar, 2 is CRYAB (crystallin, alpha B).

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
Dnajb6-Related Myofibrillar Myopathy Fhl1-Related Myofibrillar Myopathy

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

idRelated DiseaseScoreTop Affiliating Genes
1myopathy, myofibrillar, 110.3

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 17)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 neck muscle weakness HP:0000467
3 cataract HP:0000518
4 hypertrophic cardiomyopathy HP:0001639
5 distal muscle weakness HP:0002460
6 respiratory insufficiency due to muscle weakness HP:0002747
7 elevated serum creatine phosphokinase HP:0003236
8 limb-girdle muscle weakness HP:0003325
9 emg HP:0003458
10 muscle fiber splitting HP:0003555
11 muscular dystrophy HP:0003560
12 adult onset HP:0003581
13 slow progression HP:0003677
14 late-onset proximal muscle weakness HP:0003694
15 autophagic vacuoles HP:0003736
16 foot dorsiflexor weakness HP:0009027
17 decreased achilles reflex HP:0009072

Drugs & Therapeutics for Myopathy, Myofibrillar, 2

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Drug clinical trials:

Search ClinicalTrials for Myopathy, Myofibrillar, 2

Search 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 Crystallinopathy20 22 CRYAB

Anatomical Context for Myopathy, Myofibrillar, 2

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Animal Models for Myopathy, Myofibrillar, 2 or affiliated genes

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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:

63
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

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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Compounds for genes affiliated with Myopathy, Myofibrillar, 2

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GO Terms for genes affiliated with Myopathy, Myofibrillar, 2

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Sources for Myopathy, Myofibrillar, 2

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet