MFM6
MCID: MYP081
MIFTS: 24

Myopathy, Myofibrillar, 6 (MFM6) malady

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

Aliases & Classifications for Myopathy, Myofibrillar, 6

Aliases & Descriptions for Myopathy, Myofibrillar, 6:

Name: Myopathy, Myofibrillar, 6 54 66
Myopathy, Myofibrillar, Bag3-Related 13 69
Bag3-Related Myofibrillar Myopathy 12 24
Myopathy Myofibrillar Bag3-Related 66 29
Myofibrillar Myopathy 6 12 14
Muscular Dystrophy, Selcen Type 56
Muscular Dystrophy Selcen Type 66
Mfm Bag3-Related 66
Bagopathy 24
Mfm6 66

Characteristics:

Orphanet epidemiological data:

56
muscular dystrophy, selcen type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood;

HPO:

32
myopathy, myofibrillar, 6:
Inheritance autosomal dominant inheritance
Onset and clinical course rapidly progressive


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 612954
Disease Ontology 12 DOID:0080097
Orphanet 56 ORPHA199340
ICD10 via Orphanet 34 G71.8
MedGen 40 C2751831
MeSH 42 D020914

Summaries for Myopathy, Myofibrillar, 6

OMIM : 54 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 myopathy and myofibrillar myopathy, and has symptoms including respiratory insufficiency, scoliosis and facial palsy. An important gene associated with Myopathy, Myofibrillar, 6 is BAG3 (BCL2 Associated Athanogene 3).

UniProtKB/Swiss-Prot : 66 Myopathy, myofibrillar, 6: A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disc and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM6 is characterized by early-onset of severe, progressive, diffuse muscle weakness associated with cardiomyopathy, severe respiratory insufficiency during adolescence, and a rigid spine in some patients.

Related Diseases for Myopathy, Myofibrillar, 6

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 Myopathy, Myofibrillar, 8

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

id Related Disease Score Top Affiliating Genes
1 myopathy 10.1
2 myofibrillar myopathy 10.1

Symptoms & Phenotypes for Myopathy, Myofibrillar, 6

Symptoms by clinical synopsis from OMIM:

612954

Clinical features from OMIM:

612954

Human phenotypes related to Myopathy, Myofibrillar, 6:

32 (show all 19)
id Description HPO Frequency HPO Source Accession
1 respiratory insufficiency 32 HP:0002093
2 scoliosis 32 HP:0002650
3 facial palsy 32 HP:0010628
4 hypertrophic cardiomyopathy 32 HP:0001639
5 elevated serum creatine phosphokinase 32 HP:0003236
6 pes cavus 32 HP:0001761
7 nasal speech 32 HP:0001611
8 hyporeflexia 32 HP:0001265
9 spinal rigidity 32 HP:0003306
10 muscular dystrophy 32 HP:0003560
11 diaphragmatic paralysis 32 HP:0006597
12 myofibrillar myopathy 32 HP:0003715
13 generalized amyotrophy 32 HP:0003700
14 distal sensory impairment 32 HP:0002936
15 knee flexion contracture 32 HP:0006380
16 demyelinating peripheral neuropathy 32 HP:0007108
17 easy fatigability 32 HP:0003388
18 emg 32 HP:0003458
19 axonal loss 32 HP:0003447

UMLS symptoms related to Myopathy, Myofibrillar, 6:


facial paresis

Drugs & Therapeutics for Myopathy, Myofibrillar, 6

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

Genetic Tests for Myopathy, Myofibrillar, 6

Genetic tests related to Myopathy, Myofibrillar, 6:

id Genetic test Affiliating Genes
1 Myofibrillar Myopathy, Bag3-Related 29
2 Bag3-Related Myofibrillar Myopathy 24 BAG3

Anatomical Context for Myopathy, Myofibrillar, 6

Publications for Myopathy, Myofibrillar, 6

Variations for Myopathy, Myofibrillar, 6

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

66
id Symbol AA change Variation ID SNP ID
1 BAG3 p.Pro209Leu VAR_063089 rs121918312

ClinVar genetic disease variations for Myopathy, Myofibrillar, 6:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 BAG3 NM_004281.3(BAG3): c.626C> T (p.Pro209Leu) single nucleotide variant Pathogenic rs121918312 GRCh37 Chromosome 10, 121431885: 121431885
2 BAG3 NM_004281.3(BAG3): c.626C> A (p.Pro209Gln) single nucleotide variant Pathogenic rs121918312 GRCh38 Chromosome 10, 119672373: 119672373

Expression for Myopathy, Myofibrillar, 6

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

Pathways for Myopathy, Myofibrillar, 6

GO Terms for Myopathy, Myofibrillar, 6

Sources for Myopathy, Myofibrillar, 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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