MCID: MYP081
MIFTS: 26

Myopathy, Myofibrillar, 6

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

Aliases & Classifications for Myopathy, Myofibrillar, 6

MalaCards integrated aliases for Myopathy, Myofibrillar, 6:

Name: Myopathy, Myofibrillar, 6 53 71
Myopathy, Myofibrillar, Bag3-Related 13 69
Myofibrillar Myopathy 6 12 14
Mfm6 53 71
Myofibrillar Myopathy, Bag3-Related 28
Bag3-Related Myofibrillar Myopathy 12
Myopathy Myofibrillar Bag3-Related 71
Muscular Dystrophy, Selcen Type 55
Muscular Dystrophy Selcen Type 71
Mfm Bag3-Related 71

Characteristics:

Orphanet epidemiological data:

55
muscular dystrophy, selcen type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood;

OMIM:

53
Inheritance:
autosomal dominant

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


HPO:

31
myopathy, myofibrillar, 6:
Onset and clinical course rapidly progressive
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

OMIM 53 612954
Disease Ontology 12 DOID:0080097
Orphanet 55 ORPHA199340
UMLS via Orphanet 70 C2751831
ICD10 via Orphanet 33 G71.8
MedGen 39 C2751831
MeSH 41 D020914
UMLS 69 C2751831

Summaries for Myopathy, Myofibrillar, 6

OMIM : 53 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 respiratory insufficiency, scoliosis and facial palsy. 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, 2
Myopathy, Myofibrillar, 3 Myopathy, Myofibrillar, 4
Myopathy, Myofibrillar, 5 Myopathy, Myofibrillar, 6
Myopathy, Myofibrillar, 7 Myopathy, Myofibrillar, 8

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

# Related Disease Score Top Affiliating Genes
1 myopathy 10.2
2 myofibrillar myopathy 10.2

Symptoms & Phenotypes for Myopathy, Myofibrillar, 6

Symptoms via clinical synopsis from OMIM:

53
Respiratory:
respiratory insufficiency
reduced forced vital capacity

Skeletal Feet:
pes cavus

Chest Diaphragm:
diaphragmatic paralysis

Voice:
hypernasal speech

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

Cardiovascular Heart:
cardiomyopathy, hypertrophic
cardiomyopathy, restrictive

Laboratory Abnormalities:
markedly increased serum creatine kinase

Skeletal Spine:
scoliosis
rigid spine
stiff spine

Neurologic Behavioral Psychiatric Manifestations:
hyporeflexia
distal sensory impairment
axonal loss
thin myelin sheaths
axonal and demyelinating peripheral neuropathy
more
Muscle Soft Tissue:
myofibrillar myopathy
easy fatigability
skeletal muscle biopsy shows dystrophic changes
variation in fiber size
internal nuclei
more
Head And Neck Face:
facial weakness

Head And Neck Neck:
neck weakness

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


Clinical features from OMIM:

612954

Human phenotypes related to Myopathy, Myofibrillar, 6:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 respiratory insufficiency 31 HP:0002093
2 scoliosis 31 HP:0002650
3 facial palsy 31 HP:0010628
4 hypertrophic cardiomyopathy 31 HP:0001639
5 elevated serum creatine phosphokinase 31 HP:0003236
6 pes cavus 31 HP:0001761
7 nasal speech 31 HP:0001611
8 hyporeflexia 31 HP:0001265
9 spinal rigidity 31 HP:0003306
10 muscular dystrophy 31 HP:0003560
11 diaphragmatic paralysis 31 HP:0006597
12 myofibrillar myopathy 31 HP:0003715
13 generalized amyotrophy 31 HP:0003700
14 distal sensory impairment 31 HP:0002936
15 knee flexion contracture 31 HP:0006380
16 demyelinating peripheral neuropathy 31 HP:0007108
17 easy fatigability 31 HP:0003388
18 axonal loss 31 HP:0003447
19 emg 31 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:

# Genetic test Affiliating Genes
1 Myofibrillar Myopathy, Bag3-Related 28 BAG3

Anatomical Context for Myopathy, Myofibrillar, 6

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

38
Skeletal Muscle

Publications for Myopathy, Myofibrillar, 6

Articles related to Myopathy, Myofibrillar, 6:

# Title Authors Year
1
BAG3-related myofibrillar myopathy in a Chinese family. ( 21361913 )
2012

Variations for Myopathy, Myofibrillar, 6

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

71
# Symbol AA change Variation ID SNP ID
1 BAG3 p.Pro209Leu VAR_063089 rs121918312

ClinVar genetic disease variations for Myopathy, Myofibrillar, 6:

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

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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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