MCID: MYP081
MIFTS: 23

Myopathy, Myofibrillar, 6 malady

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Myopathy, Myofibrillar, 6

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Aliases & Descriptions for Myopathy, Myofibrillar, 6:

Name: Myopathy, Myofibrillar, 6 49 67
Myopathy, Myofibrillar, Bag3-Related 11 65
Bag3-Related Myofibrillar Myopathy 10 22
Myopathy Myofibrillar Bag3-Related 67 24
Myofibrillar Myopathy 6 10 12
 
Muscular Dystrophy Selcen Type 67
Mfm Bag3-Related 67
Bagopathy 22
Mfm6 67

Characteristics:

HPO:

61
myopathy, myofibrillar, 6:
Inheritance: autosomal dominant inheritance
Onset and clinical course: rapidly progressive


Classifications:



External Ids:

OMIM49 612954
Disease Ontology10 DOID:0080097
MedGen34 C2751831
MeSH36 D020914
UMLS65 C2751831

Summaries for Myopathy, Myofibrillar, 6

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OMIM:49 Myofibrillar myopathy-6 is an autosomal dominant severe neuromuscular disorder characterized by onset in the first... (612954) more...

MalaCards based summary: Myopathy, Myofibrillar, 6, also known as myopathy, myofibrillar, bag3-related, is related to muscular dystrophy, selcen type and myopathy, and has symptoms including hyporeflexia, nasal speech and hypertrophic cardiomyopathy. An important gene associated with Myopathy, Myofibrillar, 6 is BAG3 (BCL2 Associated Athanogene 3).

UniProtKB/Swiss-Prot:67 Myopathy, myofibrillar, 6: A neuromuscular disorder that results in early-onset, severe, progressive, diffuse muscle weakness associated with cardiomyopathy, severe respiratory insufficiency during adolescence, and a rigid spine in some patients. At ultrastructural level, muscle fibers display structural alterations consisting of replacement of the normal myofibrillar markings by small, dense granules, or larger hyaline masses, or amorphous material.

Related Diseases for Myopathy, Myofibrillar, 6

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Diseases in the Myofibrillar Myopathy family:

Myopathy, Myofibrillar, 1 Myopathy, Myofibrillar, 3
Myopathy, Myofibrillar, 5 Myopathy, Myofibrillar, 4
myopathy, myofibrillar, 6 Myopathy, Myofibrillar, 2
Myofibrillar Myopathy 7 Dnajb6-Related Myofibrillar Myopathy
Fhl1-Related Myofibrillar Myopathy

Diseases related to Myopathy, Myofibrillar, 6 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy, selcen type12.2
2myopathy10.2
3myofibrillar myopathy10.2

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

UMLS symptoms related to Myopathy, Myofibrillar, 6:


facial paresis

Drugs & Therapeutics for Myopathy, Myofibrillar, 6

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Myopathy, Myofibrillar, 6

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 Myopathy22 BAG3

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:

67
id Symbol AA change Variation ID SNP ID
1BAG3p.Pro209LeuVAR_063089rs121918312

Clinvar genetic disease variations for Myopathy, Myofibrillar, 6:

5
id Gene Variation Type Significance SNP ID Assembly Location
1BAG3NM_004281.3(BAG3): c.626C> A (p.Pro209Gln)single nucleotide variantPathogenicrs121918312GRCh38Chr 10, 119672373: 119672373
2BAG3NM_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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GO Terms for genes affiliated with Myopathy, Myofibrillar, 6

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Sources for Myopathy, Myofibrillar, 6

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet