Myopathy, Myofibrillar, 6 disease: Malacards - Research Articles, Symptoms, Drugs, Genes, Clinical Trials

Aliases & Classifications for Myopathy, Myofibrillar, 6

Sources:
⁴⁹OMIM, ⁶⁷UniProtKB/Swiss-Prot, ¹⁰Disease Ontology, ¹²DISEASES, ²²GeneTests, ¹¹diseasecard, ⁶⁵UMLS, ²⁴GTR, ³⁴MedGen, ³⁶MeSH, ⁶¹The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Myopathy, Myofibrillar, 6:

Name: Myopathy, Myofibrillar, 6 ⁴⁹ ⁶⁷

Myopathy, Myofibrillar, Bag3-Related ¹¹ ⁶⁵

Bag3-Related Myofibrillar Myopathy ¹⁰ ²²

Myopathy Myofibrillar Bag3-Related ⁶⁷ ²⁴

Myofibrillar Myopathy 6 ¹⁰ ¹²

Muscular Dystrophy Selcen Type ⁶⁷

Mfm Bag3-Related ⁶⁷

Bagopathy ²²

Mfm6 ⁶⁷

Characteristics:

HPO:

⁶¹

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

Classifications:

MalaCards categories:
Global: Genetic diseases, Rare diseases
Anatomical: Muscle diseases, Neuronal diseases, Cardiovascular diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM⁴⁹ 612954

Disease Ontology¹⁰ DOID:0080097

MedGen³⁴ C2751831

MeSH³⁶ D020914

UMLS⁶⁵ C2751831

Summaries for Myopathy, Myofibrillar, 6

Sources:
⁴⁹OMIM, ⁶⁷UniProtKB/Swiss-Prot, ³³MalaCards
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OMIM:⁴⁹ 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 muscular dystrophy, selcen type and 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:⁶⁷ 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

Sources:
²⁰GeneCards, ¹⁹GeneAnalytics
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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:

id	Related Disease	Score
1	muscular dystrophy, selcen type	12.2
2	myopathy	10.2
3	myofibrillar myopathy	10.2

Symptoms for Myopathy, Myofibrillar, 6

Sources:
⁴⁹OMIM, ⁶¹The Human Phenotype Ontology, ⁶⁵UMLS
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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	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

Sources:
⁴⁴NIH Clinical Center, ⁴ClinicalTrials
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Interventional clinical trials:

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

Genetic Tests for Myopathy, Myofibrillar, 6

Sources:
²²GeneTests
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Genetic tests related to Myopathy, Myofibrillar, 6:

id	Genetic test	Affiliating Genes
1	Bag3-Related Myofibrillar Myopathy²²	BAG3

Anatomical Context for Myopathy, Myofibrillar, 6

Animal Models for Myopathy, Myofibrillar, 6 or affiliated genes

Publications for Myopathy, Myofibrillar, 6

Genes related to Myopathy, Myofibrillar, 6

Sources:
²⁰GeneCards, ⁴⁹OMIM, ⁵Clinvar, ⁶⁷UniProtKB/Swiss-Prot, ²²GeneTests, ¹²DISEASES
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Genes related to Myopathy, Myofibrillar, 6 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

id	Symbol	Description	Score	Implication	PubmedIds
1	BAG3	BCL2 Associated Athanogene 3	1335.32	Molecular basis known ⁴⁹ Pathogenic ⁵ Causative variation ⁶⁷ Genetic Tests ²² DISEASES inferred ¹² GeneCards inferred via : Disorders, Variants (show sections)

Variations for Myopathy, Myofibrillar, 6

Sources:
⁶⁷UniProtKB/Swiss-Prot, ⁵Clinvar, ⁸dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Myofibrillar, 6:

⁶⁷

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

Clinvar genetic disease variations for Myopathy, Myofibrillar, 6:

⁵

id	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	Chr 10, 119672373: 119672373
2	BAG3	NM_004281.3(BAG3): c.626C> T (p.Pro209Leu)	single nucleotide variant	Pathogenic	rs121918312	GRCh37	Chr 10, 121431885: 121431885