MCID: MYP083

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

Neuronal category

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

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47OMIM, 33MalaCards
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MalaCards: Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B Crystallin-Related, also known as fatal infantile hypertonic myofibrillar myopathy, is related to myopathy, myofibrillar, 2. An important gene associated with Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B Crystallin-Related is CRYAB (crystallin, alpha B).

Description from OMIM:47 613869

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

Sources:
47OMIM, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 47
fatal infantile hypertonic myofibrillar myopathy 49
alpha-b crystallin-related myofibrillar myopathy 49


External Ids:

ICD10 via Orphanet26 G71.2
OMIM47 613869

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

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17GeneCards, 18GeneDecks
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Diseases related to Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B Crystallin-Related via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1myopathy, myofibrillar, 210.5

Clinical Features for Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B...

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47OMIM
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Clinical features from OMIM:

613869

Clinical synopsis from OMIM:

613869

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

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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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...

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

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

Sources:
28inGenious Targeting Laboratory
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Publications for Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B...

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

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

Sources:
1BioGPS, 15Gene 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...

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

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

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

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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet