MCID: MYP081
MIFTS: 27

Myopathy, Myofibrillar, 6

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

Aliases & Classifications for Myopathy, Myofibrillar, 6

MalaCards integrated aliases for Myopathy, Myofibrillar, 6:

Name: Myopathy, Myofibrillar, 6 54 71
Myopathy, Myofibrillar, Bag3-Related 13 69
Bag3-Related Myofibrillar Myopathy 12 24
Myofibrillar Myopathy 6 12 14
Myofibrillar Myopathy, Bag3-Related 29
Myopathy Myofibrillar Bag3-Related 71
Muscular Dystrophy, Selcen Type 56
Muscular Dystrophy Selcen Type 71
Mfm Bag3-Related 71
Bagopathy 24
Mfm6 71

Characteristics:

Orphanet epidemiological data:

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

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
early death may occur
rapidly progressive
most mutations occur de novo
onset in late childhood or early teens


HPO:

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


Classifications:

Orphanet: 56  
Rare neurological diseases


Summaries for Myopathy, Myofibrillar, 6

OMIM : 54
Myofibrillar myopathy-6 is an autosomal dominant severe neuromuscular disorder characterized by onset in the first decade of rapidly progressive generalized and proximal muscle weakness, respiratory insufficiency, cardiomyopathy, and skeletal deformities related to muscle weakness. Muscle biopsy shows fiber-type grouping, disruption of the Z lines, and filamentous inclusions, and sural nerve biopsy shows a neuropathy, often with giant axonal neurons. Most patients are severely affected by the second decade and need cardiac transplant, ventilation, and/or a wheelchair (summary by Jaffer et al., 2012). For a phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy (MFM), see MFM1 (601419). (612954)

MalaCards based summary : Myopathy, Myofibrillar, 6, also known as myopathy, myofibrillar, bag3-related, is related to myopathy and myofibrillar myopathy, and has symptoms including spinal rigidity, scoliosis and distal sensory impairment. An important gene associated with Myopathy, Myofibrillar, 6 is BAG3 (BCL2 Associated Athanogene 3). Affiliated tissues include skeletal muscle.

UniProtKB/Swiss-Prot : 71 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, 7
Myopathy, Myofibrillar, 3 Myopathy, Myofibrillar, 5
Myopathy, Myofibrillar, 4 Myopathy, Myofibrillar, 6
Myopathy, Myofibrillar, 2 Myopathy, Myofibrillar, 8
Dnajb6-Related Myofibrillar Myopathy Fhl1-Related Myofibrillar Myopathy

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 via clinical synopsis from OMIM:

54

Head And Neck- Face:
facial weakness

Neurologic- Behavioral Psychiatric Manifestations:
distal sensory impairment
hyporeflexia
axonal loss
thin myelin sheaths
axonal and demyelinating peripheral neuropathy
more
Muscle Soft Tissue:
easy fatigability
variation in fiber size
internal nuclei
skeletal muscle biopsy shows dystrophic changes
necrotic fibers
more
Cardiovascular- Heart:
cardiomyopathy, restrictive
cardiomyopathy, hypertrophic

Head And Neck- Neck:
neck weakness

Voice:
hypernasal speech

Laboratory- Abnormalities:
markedly increased serum creatine kinase

Skeletal- Spine:
scoliosis
rigid spine
stiff spine

Skeletal- Feet:
pes cavus

Respiratory:
respiratory insufficiency
reduced forced vital capacity

Neurologic- Central Nervous System:
loss of ambulation
clumsy gait
toe-walking in early childhood

Chest- Diaphragm:
diaphragmatic paralysis

Skeletal- Limbs:
contractures of the knees and ankles
valgus ankle deformity


Clinical features from OMIM:

612954

Human phenotypes related to Myopathy, Myofibrillar, 6:

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

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

MalaCards organs/tissues related to Myopathy, Myofibrillar, 6:

39
Skeletal Muscle

Publications for Myopathy, Myofibrillar, 6

Variations for Myopathy, Myofibrillar, 6

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

71
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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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