MCID: ALP031
MIFTS: 10

Alpha-B Crystallinopathy malady

Genetic diseases (common) category

Summaries for Alpha-B Crystallinopathy

About this section
Sources:
34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
MalaCards: Alpha-B Crystallinopathy, also known as myopathy, myofibrillar, 2, mfm2, is related to myopathy, myofibrillar, 1. An important gene associated with Alpha-B Crystallinopathy is CRYAB (crystallin, alpha B).

Aliases & Classifications for Alpha-B Crystallinopathy

About this section
Sources:
21GeneTests, 23GTR, 63UMLS
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

alpha-b crystallinopathy 21 23
myopathy, myofibrillar, 2, mfm2 63


Related Diseases for Alpha-B Crystallinopathy

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

Diseases related to Alpha-B Crystallinopathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1myopathy, myofibrillar, 110.3

Symptoms for Alpha-B Crystallinopathy

About this section

Drugs & Therapeutics for Alpha-B Crystallinopathy

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Alpha-B Crystallinopathy

Drug clinical trials:

Search ClinicalTrials for Alpha-B Crystallinopathy

Search NIH Clinical Center for Alpha-B Crystallinopathy

Search CenterWatch for Alpha-B Crystallinopathy

Genetic Tests for Alpha-B Crystallinopathy

About this section
Sources:
21GeneTests, 23GTR
See all sources

Genetic tests related to Alpha-B Crystallinopathy:

id Genetic test Affiliating Genes
1 Alpha-B Crystallinopathy21 23 CRYAB

Anatomical Context for Alpha-B Crystallinopathy

About this section

Animal Models for Alpha-B Crystallinopathy or affiliated genes

About this section

Publications for Alpha-B Crystallinopathy

About this section

Variations for Alpha-B Crystallinopathy

About this section
Sources:
1 National Center for Biotechnology Information (Clinvar)
See all sources

Clinvar genetic disease variations for Alpha-B Crystallinopathy:

1
id Gene Name Type Significance SNP ID Assembly Location
1CRYABNM_001885.2(CRYAB): c.358A> G (p.Arg120Gly)single nucleotide variantPathogenicrs104894201GRCh37Chr 11, 111779658: 111779658
2CRYABNM_001885.2(CRYAB): c.451C> T (p.Gln151Ter)single nucleotide variantPathogenicrs104894202GRCh37Chr 11, 111779565: 111779565
3CRYABNM_001885.2(CRYAB): c.60delC (p.Ser21Alafs)deletionPathogenicrs281865141GRCh37Chr 11, 111782389: 111782389
4CRYABNM_001885.2(CRYAB): c.343delT (p.Ser115Profs)deletionPathogenicrs281865142GRCh37Chr 11, 111779673: 111779673
5CRYABNM_001885.2(CRYAB): c.325G> C (p.Asp109His)single nucleotide variantPathogenicrs387907339GRCh37Chr 11, 111779691: 111779691

Expression for genes affiliated with Alpha-B Crystallinopathy

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Alpha-B Crystallinopathy

Search GEO for disease gene expression data for Alpha-B Crystallinopathy.

Pathways for genes affiliated with Alpha-B Crystallinopathy

About this section

Compounds for genes affiliated with Alpha-B Crystallinopathy

About this section

GO Terms for genes affiliated with Alpha-B Crystallinopathy

About this section

Products for genes affiliated with Alpha-B Crystallinopathy

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Alpha-B Crystallinopathy

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet