MCID: MYP083
MIFTS: 11

Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B Crystallin-Related malady

Neuronal diseases, Rare diseases categories

Summaries for Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B...

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48OMIM, 34MalaCards
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MalaCards: Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B Crystallin-Related, is also known as fatal infantile hypertonic myofibrillar myopathy An important gene associated with Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B Crystallin-Related is CRYAB (crystallin, alpha B).

Description from OMIM:48 613869

Aliases & Classifications for Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B...

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Sources:
48OMIM, 50Orphanet, 27ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
fatal infantile hypertonic myofibrillar myopathy:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Before age 5


Aliases & Descriptions:

myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related 48
fatal infantile hypertonic myofibrillar myopathy 50


External Ids:

ICD10 via Orphanet27 G71.2
OMIM48 613869

Related Diseases for Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B...

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Symptoms for Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B...

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48OMIM
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Symptoms by clinical synopsis from OMIM:

613869

Clinical features from OMIM:

613869

Drugs & Therapeutics for Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B...

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B...

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Anatomical Context for Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B...

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Animal Models for Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B... or affiliated genes

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Publications for Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B...

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Variations for Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B...

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B Crystallin-Related:

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
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, Fatal Infantile Hypertrophy, Alpha-B...

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B Crystallin-Related

Search GEO for disease gene expression data for Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B Crystallin-Related.

Pathways for genes affiliated with Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B...

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Compounds for genes affiliated with Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B...

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GO Terms for genes affiliated with Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B...

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Products for genes affiliated with Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B...

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B...

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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