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

Summaries for Myopathy, Myofibrillar, 6

Sources:
⁴⁶OMIM, ³²MalaCards
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OMIM:⁴⁶ Myofibrillar myopathy-6 is an autosomal dominant severe neuromuscular disorder characterized by onset in the first... (612954) more...

MalaCards based summary: Myopathy, Myofibrillar, 6, is also known as muscular dystrophy, selcen type, and has symptoms including autosomal dominant inheritance, hyporeflexia and nasal speech. An important gene associated with Myopathy, Myofibrillar, 6 is BAG3 (BCL2-associated athanogene 3).

Aliases & Classifications for Myopathy, Myofibrillar, 6

Sources:
⁴⁶OMIM, ⁴⁸Orphanet, ²⁷ICD10 via Orphanet
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Myopathy, Myofibrillar, 6, Aliases & Descriptions:

Name: Myopathy, Myofibrillar, 6 ⁴⁶

Muscular Dystrophy, Selcen Type ⁴⁸

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Muscle diseases

ICD10: ²⁷

Diseases of the nervous system

Diseases of myoneural junction and muscle

Primary disorders of muscles

Other primary disorders of muscles

Orphanet: ⁴⁸

Rare neurological diseases

Characteristics (Orphanet epidemiological data):

⁴⁸

muscular dystrophy, selcen type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Adolescence / Young adulthood

External Ids:

OMIM⁴⁶ 612954

ICD10 via Orphanet²⁷ G71.8

Related Diseases for Myopathy, Myofibrillar, 6

Diseases in the Myofibrillar Myopathy family:

Bag3-Related Myofibrillar Myopathy	Dnajb6-Related Myofibrillar Myopathy
Fhl1-Related Myofibrillar Myopathy	Myopathy, Myofibrillar, 1
Myopathy, Myofibrillar, 3	Myopathy, Myofibrillar, 5
Myopathy, Myofibrillar, 4	myopathy, myofibrillar, 6
Myopathy, Myofibrillar, 2

Symptoms for Myopathy, Myofibrillar, 6

Sources:
⁴⁶OMIM, ⁵⁸The Human Phenotype Ontology
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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 21)

id	Description	HPO Source Accession
1	autosomal dominant inheritance	HP:0000006
2	hyporeflexia	HP:0001265
3	nasal speech	HP:0001611
4	hypertrophic cardiomyopathy	HP:0001639
5	pes cavus	HP:0001761
6	respiratory insufficiency	HP:0002093
7	scoliosis	HP:0002650
8	distal sensory impairment	HP:0002936
9	elevated serum creatine phosphokinase	HP:0003236
10	spinal rigidity	HP:0003306
11	easy fatigability	HP:0003388
12	axonal loss	HP:0003447
13	emg	HP:0003458
14	muscular dystrophy	HP:0003560
15	rapidly progressive	HP:0003678
16	generalized amyotrophy	HP:0003700
17	myofibrillar myopathy	HP:0003715
18	knee flexion contracture	HP:0006380
19	diaphragmatic paralysis	HP:0006597
20	demyelinating peripheral neuropathy	HP:0007108
21	facial palsy	HP:0010628

Drugs & Therapeutics for Myopathy, Myofibrillar, 6

Sources:
⁴¹NIH Clinical Center, ⁶ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Myopathy, Myofibrillar, 6

Search NIH Clinical Center for Myopathy, Myofibrillar, 6

Genetic Tests for Myopathy, Myofibrillar, 6

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:
¹⁸GeneCards, ¹antibodies-online, ⁴⁵Novus Biologicals, ⁴⁶OMIM, ⁷Clinvar, ⁴⁸Orphanet, ⁶³UniProtKB/Swiss-Prot
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Genes related to Myopathy, Myofibrillar, 6:

- Elite gene

id	Symbol	Products	Description	Score	Implication
1	BAG3		BCL2-associated athanogene 3	31.28	Molecular basis known ⁴⁶ Pathogenic ⁷ Causative germline mutation ⁴⁸ Causative variation ⁶³ GeneCards inferred via : Disorders (show sections)