MCID: MYP081
MIFTS: 18

Myopathy, Myofibrillar, 6 malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Summaries for Myopathy, Myofibrillar, 6

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OMIM:45 Myofibrillar myopathy-6 is an autosomal dominant severe neuromuscular disorder characterized by onset in the first... (612954) more...

MalaCards based summary: Myopathy, Myofibrillar, 6, is also known as myopathy, myofibrillar, bag3-related, and has symptoms including autosomal dominant inheritance, hyporeflexia and nasal speech. An important gene associated with Myopathy, Myofibrillar, 6 is BAG3 (BCL2-associated athanogene 3).

Aliases & Classifications for Myopathy, Myofibrillar, 6

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Myopathy, Myofibrillar, 6, Aliases & Descriptions:

Name: Myopathy, Myofibrillar, 6 45
 
Myopathy, Myofibrillar, Bag3-Related 10 20 22


Classifications:

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


External Ids:

OMIM45 612954

Related Diseases for Myopathy, Myofibrillar, 6

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Symptoms for Myopathy, Myofibrillar, 6

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Symptoms by clinical synopsis from OMIM:

612954

Clinical features from OMIM:

612954

HPO human phenotypes related to Myopathy, Myofibrillar, 6:

(show all 21)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 hyporeflexia HP:0001265
3 nasal speech HP:0001611
4 hypertrophic cardiomyopathy HP:0001639
5 pes cavus HP:0001761
6 respiratory insufficiency HP:0002093
7 scoliosis HP:0002650
8 distal sensory impairment HP:0002936
9 elevated serum creatine phosphokinase HP:0003236
10 spinal rigidity HP:0003306
11 easy fatigability HP:0003388
12 axonal loss HP:0003447
13 emg HP:0003458
14 muscular dystrophy HP:0003560
15 rapidly progressive HP:0003678
16 generalized amyotrophy HP:0003700
17 myofibrillar myopathy HP:0003715
18 knee flexion contracture HP:0006380
19 diaphragmatic paralysis HP:0006597
20 demyelinating peripheral neuropathy HP:0007108
21 facial palsy HP:0010628

Drugs & Therapeutics for Myopathy, Myofibrillar, 6

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Drug clinical trials:

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Genetic Tests for Myopathy, Myofibrillar, 6

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Genetic tests related to Myopathy, Myofibrillar, 6:

id Genetic test Affiliating Genes
1 Bag3-Related Myofibrillar Myopathy20 BAG3
2 Myofibrillar Myopathy, Bag3-Related22

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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UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Myofibrillar, 6:

62
id Symbol AA change Variation ID SNP ID
1BAG3p.Pro209LeuVAR_063089rs121918312

Clinvar genetic disease variations for Myopathy, Myofibrillar, 6:

6
id Gene Variation 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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Search GEO for disease gene expression data for Myopathy, Myofibrillar, 6.

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
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  • Antibodies
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Sources for Myopathy, Myofibrillar, 6

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet