MCID: MYP083
MIFTS: 11

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

Neuronal diseases category

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

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46OMIM, 32MalaCards
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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:46 613869

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

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Sources:
46OMIM, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 46
fatal infantile hypertonic myofibrillar myopathy 48


External Ids:

ICD10 via Orphanet26 G71.2
OMIM46 613869

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

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

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46OMIM
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Clinical features from OMIM:

613869

Clinical synopsis from OMIM:

613869

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

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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

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

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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...

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

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet