MCID: MYP081
MIFTS: 24

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 52 70
Myopathy, Myofibrillar, Bag3-Related 12 68
Bag3-Related Myofibrillar Myopathy 11 24
Myopathy Myofibrillar Bag3-Related 70 27
Myofibrillar Myopathy 6 11 13
 
Muscular Dystrophy, Selcen Type 54
Muscular Dystrophy Selcen Type 70
Mfm Bag3-Related 70
Bagopathy 24
Mfm6 70

Characteristics:

Orphanet epidemiological data:

54
muscular dystrophy, selcen type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood

HPO:

64
myopathy, myofibrillar, 6:
Inheritance: autosomal dominant inheritance
Onset and clinical course: rapidly progressive

Classifications:



External Ids:

OMIM52 612954
Disease Ontology11 DOID:0080097
Orphanet54 ORPHA199340
ICD10 via Orphanet31 G71.8
MedGen37 C2751831
MeSH39 D020914

Summaries for Myopathy, Myofibrillar, 6

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OMIM:52 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 hyporeflexia, nasal speech and hypertrophic cardiomyopathy. An important gene associated with Myopathy, Myofibrillar, 6 is BAG3 (BCL2 Associated Athanogene 3).

UniProtKB/Swiss-Prot:70 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

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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
1myopathy10.1
2myofibrillar myopathy10.1

Symptoms & Phenotypes for Myopathy, Myofibrillar, 6

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Symptoms by clinical synopsis from OMIM:

612954

Clinical features from OMIM:

612954

Human phenotypes related to Myopathy, Myofibrillar, 6:

 64 (show all 19)
id Description HPO Frequency HPO Source Accession
1 hyporeflexia64 HP:0001265
2 nasal speech64 HP:0001611
3 hypertrophic cardiomyopathy64 HP:0001639
4 pes cavus64 HP:0001761
5 respiratory insufficiency64 HP:0002093
6 scoliosis64 HP:0002650
7 distal sensory impairment64 HP:0002936
8 elevated serum creatine phosphokinase64 HP:0003236
9 spinal rigidity64 HP:0003306
10 easy fatigability64 HP:0003388
11 axonal loss64 HP:0003447
12 emg64 HP:0003458
13 muscular dystrophy64 HP:0003560
14 generalized amyotrophy64 HP:0003700
15 myofibrillar myopathy64 HP:0003715
16 knee flexion contracture64 HP:0006380
17 diaphragmatic paralysis64 HP:0006597
18 demyelinating peripheral neuropathy64 HP:0007108
19 facial palsy64 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-Related27
2 Bag3-Related Myofibrillar Myopathy24 BAG3

Anatomical Context for Myopathy, Myofibrillar, 6

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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:

70
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)SNVPathogenicrs121918312GRCh38Chr 10, 119672373: 119672373
2BAG3NM_004281.3(BAG3): c.626C> T (p.Pro209Leu)SNVPathogenicrs121918312GRCh37Chr 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet