MCID: MYP081
MIFTS: 13

Myopathy, Myofibrillar, 6 malady

Genetic diseases, Neuronal diseases, Rare diseases, Muscle diseases categories

Summaries for Myopathy, Myofibrillar, 6

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Sources:
48OMIM, 34MalaCards
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MalaCards: Myopathy, Myofibrillar, 6, is also known as muscular dystrophy, selcen type An important gene associated with Myopathy, Myofibrillar, 6 is BAG3 (BCL2-associated athanogene 3).

Description from OMIM:48 612954

Aliases & Classifications for Myopathy, Myofibrillar, 6

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

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


Characteristics (Orphanet epidemiological data):

50
muscular dystrophy, selcen type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Adolescence / Young adulthood


Aliases & Descriptions:

myopathy, myofibrillar, 6 48
muscular dystrophy, selcen type 50


External Ids:

OMIM48 612954
ICD10 via Orphanet27 G71.8

Related Diseases for Myopathy, Myofibrillar, 6

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Symptoms for Myopathy, Myofibrillar, 6

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48OMIM
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Symptoms by clinical synopsis from OMIM:

612954

Clinical features from OMIM:

612954

Drugs & Therapeutics for Myopathy, Myofibrillar, 6

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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, 6

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Anatomical Context for Myopathy, Myofibrillar, 6

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Animal Models for Myopathy, Myofibrillar, 6 or affiliated genes

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Publications for Myopathy, Myofibrillar, 6

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Variations for Myopathy, Myofibrillar, 6

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Myofibrillar, 6:

65
id Symbol AA change Variation ID SNP ID
1BAG3p.Pro209LeuVAR_063089rs121918312

Clinvar genetic disease variations for Myopathy, Myofibrillar, 6:

1
id Gene Name Type Significance SNP ID Assembly Location
1BAG3NM_004281.3(BAG3): c.626C> T (p.Pro209Leu)single nucleotide variantPathogenicrs121918312GRCh37Chr 10, 121431885: 121431885

Expression for genes affiliated with Myopathy, Myofibrillar, 6

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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, 6

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Pathways for genes affiliated with Myopathy, Myofibrillar, 6

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Compounds for genes affiliated with Myopathy, Myofibrillar, 6

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GO Terms for genes affiliated with Myopathy, Myofibrillar, 6

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Products for genes affiliated with Myopathy, Myofibrillar, 6

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Myopathy, Myofibrillar, 6

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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