MCID: MYP081
MIFTS: 25

Myopathy, Myofibrillar, 6 malady

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

Aliases & Classifications for Myopathy, Myofibrillar, 6

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Aliases & Descriptions for Myopathy, Myofibrillar, 6:

Name: Myopathy, Myofibrillar, 6 50 68
Bag3-Related Myofibrillar Myopathy 11 23
Myopathy Myofibrillar Bag3-Related 68 25
Myofibrillar Myopathy 6 11 13
Myopathy, Myofibrillar, Bag3-Related 12
 
Muscular Dystrophy, Selcen Type 52
Muscular Dystrophy Selcen Type 68
Mfm Bag3-Related 68
Bagopathy 23
Mfm6 68

Characteristics:

Orphanet epidemiological data:

52
muscular dystrophy, selcen type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood

HPO:

62
myopathy, myofibrillar, 6:
Inheritance: autosomal dominant inheritance
Onset and clinical course: rapidly progressive


Classifications:



External Ids:

OMIM50 612954
Disease Ontology11 DOID:0080097
Orphanet52 ORPHA199340
ICD10 via Orphanet29 G71.8
MedGen35 C2751831
MeSH37 D020914

Summaries for Myopathy, Myofibrillar, 6

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OMIM:50 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 bag3-related myofibrillar myopathy, is related to myopathy and myofibrillar myopathy, and has symptoms including facial paresis, hyporeflexia and nasal speech. An important gene associated with Myopathy, Myofibrillar, 6 is BAG3 (BCL2 Associated Athanogene 3).

UniProtKB/Swiss-Prot:68 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
1myopathy10.2
2myofibrillar 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 Myofibrillar Myopathy, Bag3-Related25
2 Bag3-Related Myofibrillar Myopathy23 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:

68
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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet