MCID: MYP082
MIFTS: 16

Myopathy, Myofibrillar, 2 malady

Genetic diseases, Neuronal diseases, Rare diseases, Muscle diseases categories
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Summaries for Myopathy, Myofibrillar, 2

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MalaCards based summary: Myopathy, Myofibrillar, 2, also known as cryab-related myofobrillar myopathy, is related to alpha-b crystallinopathy, and has symptoms including An important gene associated with Myopathy, Myofibrillar, 2 is CRYAB (crystallin, alpha B).

Description from OMIM:46 608810

Aliases & Classifications for Myopathy, Myofibrillar, 2

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Sources:
46OMIM, 48Orphanet, 26ICD10 via Orphanet
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Myopathy, Myofibrillar, 2, Aliases & Descriptions:

Name: Myopathy, Myofibrillar, 2 46
Cryab-Related Myofobrillar Myopathy 48
 
Alpha-Crystallinopathy 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Muscle diseases


External Ids:

OMIM46 608810
ICD10 via Orphanet26 G71.8

Related Diseases for Myopathy, Myofibrillar, 2

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Diseases in the Myofibrillar Myopathy family:

Bag3-Related Myofibrillar Myopathy Dnajb6-Related Myofibrillar Myopathy
Fhl1-Related Myofibrillar Myopathy Myopathy, Myofibrillar, 1
Myopathy, Myofibrillar, 3 Myopathy, Myofibrillar, 5
Myopathy, Myofibrillar, 4 Myopathy, Myofibrillar, 6
myopathy, myofibrillar, 2

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

idRelated DiseaseScoreTop Affiliating Genes
1alpha-b crystallinopathy10.2

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 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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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:

64
id Symbol AA change Variation ID SNP ID
1CRYABp.Arg120GlyVAR_007899rs28929489
2CRYABp.Asp109HisVAR_069528

Clinvar genetic disease variations for Myopathy, Myofibrillar, 2:

6
id Gene Name 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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Expression patterns in normal tissues for genes affiliated with Myopathy, Myofibrillar, 2

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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Products for genes affiliated with Myopathy, Myofibrillar, 2

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Sources for Myopathy, Myofibrillar, 2

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet