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

Aliases & Classifications for Myopathy, Myofibrillar, 6

Sources:
¹¹Disease Ontology, ¹²diseasecard, ¹³DISEASES, ²⁴GeneTests, ²⁷GTR, ³¹ICD10 via Orphanet, ³⁷MedGen, ³⁹MeSH, ⁵²OMIM, ⁵⁴Orphanet, ⁶⁴The Human Phenotype Ontology, ⁶⁸UMLS, ⁷⁰UniProtKB/Swiss-Prot
See all MalaCards sources

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:

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

See all MalaCards categories (disease lists)

ICD10: ³¹

Diseases of the nervous system

Diseases of myoneural junction and muscle

Primary disorders of muscles

Other primary disorders of muscles

Orphanet: ⁵⁴

Rare neurological diseases

External Ids:

OMIM⁵² 612954

Disease Ontology¹¹ DOID:0080097

Orphanet⁵⁴ ORPHA199340

ICD10 via Orphanet³¹ G71.8

MedGen³⁷ C2751831

MeSH³⁹ D020914

Summaries for Myopathy, Myofibrillar, 6

Sources:
³⁶MalaCards, ⁵²OMIM, ⁷⁰UniProtKB/Swiss-Prot
See all MalaCards sources

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

Sources:
²⁰GeneAnalytics, ²¹GeneCards
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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	Top Affiliating Genes
1	myopathy	10.1
2	myofibrillar myopathy	10.1

Symptoms & Phenotypes for Myopathy, Myofibrillar, 6

Sources:
⁵²OMIM, ⁶⁴The Human Phenotype Ontology, ⁶⁸UMLS
See all MalaCards sources

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 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

Sources:
⁴ClinicalTrials
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Interventional clinical trials:

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

Genetic Tests for Myopathy, Myofibrillar, 6

Sources:
²⁴GeneTests, ²⁷GTR
See all MalaCards sources

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

Publications for Myopathy, Myofibrillar, 6

Genes related to Myopathy, Myofibrillar, 6

Sources:
⁵Clinvar, ¹³DISEASES, ²¹GeneCards, ²⁴GeneTests, ⁵²OMIM, ⁵⁴Orphanet, ⁷⁰UniProtKB/Swiss-Prot
See all MalaCards sources

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	1684.86	Molecular basis known ⁵² Pathogenic ⁵ Causative germline mutation ⁵⁴ Causative variation ⁷⁰ Genetic Tests ²⁴ DISEASES inferred ¹³ GeneCards inferred via : Disorders, Variants (show sections)

Variations for Myopathy, Myofibrillar, 6

Sources:
⁵Clinvar, ⁹dbSNP, ⁷⁰UniProtKB/Swiss-Prot
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UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Myofibrillar, 6:

⁷⁰

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)	SNV	Pathogenic	rs121918312	GRCh38	Chr 10, 119672373: 119672373
2	BAG3	NM_004281.3(BAG3): c.626C> T (p.Pro209Leu)	SNV	Pathogenic	rs121918312	GRCh37	Chr 10, 121431885: 121431885