Congenital Structural Myopathy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Congenital Structural Myopathy

MalaCards integrated aliases for Congenital Structural Myopathy:

Name: Congenital Structural Myopathy ¹² ¹⁵ ⁷³

Classifications:

MalaCards categories:
Anatomical: Muscle diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:422

MeSH ⁴⁴ D020914

NCIt ⁵⁰ C84648

UMLS ⁷³ C0752282

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Summaries for Congenital Structural Myopathy

MalaCards based summary : Congenital Structural Myopathy is related to nemaline myopathy and centronuclear myopathy, and has symptoms including muscle weakness, myalgia and muscle rigidity. An important gene associated with Congenital Structural Myopathy is RYR1 (Ryanodine Receptor 1), and among its related pathways/superpathways are Cardiac conduction and Striated Muscle Contraction. Related phenotypes are behavior/neurological and growth/size/body region

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Related Diseases for Congenital Structural Myopathy

Diseases related to Congenital Structural Myopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)

#	Related Disease	Score	Top Affiliating Genes
1	nemaline myopathy	29.7	ACTA1 CFL2 KBTBD13 KLHL40 KLHL41 LMOD3
2	centronuclear myopathy	11.2
3	foot drop	10.2	ACTA1 NEB
4	arthrogryposis, distal, type 1a	10.1	RYR1 TPM2
5	multiple pterygium syndrome, lethal type	10.1	NEB RYR1
6	camptodactyly-arthropathy-coxa vara-pericarditis syndrome	10.1	TPM2 TPM3
7	congenital contractures	10.1	LMOD3 RYR1
8	nemaline myopathy 2	10.1	NEB TPM3
9	cap myopathy	10.0	ACTA1 TPM2 TPM3
10	myopathy, tubular aggregate, 1	10.0	ACTA1 RYR1
11	multiminicore disease	10.0	RYR1 SELENON
12	muscle tissue disease	10.0	NEB RYR1
13	central core disease of muscle	10.0	NEB RYR1 SELENON
14	rigid spine muscular dystrophy 1	9.9	ACTA1 RYR1 SELENON
15	muscle disorders	9.9	RYR1 SELENON TPM3
16	central core myopathy	9.9	KBTBD13 RYR1 SELENON
17	intermediate congenital nemaline myopathy	9.9	ACTA1 KLHL41 NEB TPM3
18	myopathy, congenital, with fiber-type disproportion	9.8	ACTA1 RYR1 SELENON TPM3
19	muscular dystrophy	9.8	ACTA1 NEB RYR1 SELENON
20	severe congenital nemaline myopathy	9.7	ACTA1 KLHL40 KLHL41 LMOD3 NEB
21	childhood-onset nemaline myopathy	9.6	ACTA1 KBTBD13 KLHL41 NEB TPM2 TPM3
22	typical congenital nemaline myopathy	9.6	ACTA1 CFL2 KLHL41 LMOD3 NEB TPM2
23	congenital fiber-type disproportion	9.6	ACTA1 CFL2 RYR1 SELENON TPM2 TPM3
24	muscular disease	9.5	ACTA1 KBTBD13 NEB RYR1 SELENON TPM2
25	myopathy, congenital	9.4	ACTA1 NEB RYR1 SELENON TNNT1 TPM3
26	myopathy	8.7	ACTA1 CFL2 KBTBD13 KLHL40 LMOD3 NEB

Graphical network of the top 20 diseases related to Congenital Structural Myopathy:

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Symptoms & Phenotypes for Congenital Structural Myopathy

UMLS symptoms related to Congenital Structural Myopathy:

muscle weakness, myalgia, muscle rigidity, muscle cramp, muscle spasticity

MGI Mouse Phenotypes related to Congenital Structural Myopathy:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	9.7	ACTA1 CFL2 KLHL41 LMOD3 NEB RYR1
2	growth/size/body region	MP:0005378	9.56	ACTA1 CFL2 KLHL40 KLHL41 LMOD3 NEB
3	muscle	MP:0005369	9.32	ACTA1 CFL2 KLHL40 KLHL41 LMOD3 NEB

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Drugs & Therapeutics for Congenital Structural Myopathy

Interventional clinical trials:

#	Name	Status	NCT ID	Phase
1	Gene Transfer Clinical Study in X-Linked Myotubular Myopathy	Recruiting	NCT03199469	Phase 1, Phase 2
2	Myotubular Myopathy Genetic Testing Study	Completed	NCT01817946
3	Myotubular Myopathy Event Study	Completed	NCT01840657
4	Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM)	Completed	NCT02057705
5	Respiratory Muscle Function in Untreated X-Linked Myotubular Myopathy (XLMTM)	Recruiting	NCT02453152
6	Prospective Natural History Study of Patients With Myotubular Myopathy and Other CentroNuclear Myopathies	Recruiting	NCT03351270	Not Applicable
7	A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (XLMTM)	Recruiting	NCT02231697
8	Molecular and Genetic Studies of Congenital Myopathies	Recruiting	NCT00272883
9	Congenital Muscle Disease Study of Patient and Family Reported Medical Information	Recruiting	NCT01403402
10	A Clinical Assessment Study in X-Linked Myotubular Myopathy (XLMTM) Subjects	Active, not recruiting	NCT02704273

Search NIH Clinical Center for Congenital Structural Myopathy

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Genetic Tests for Congenital Structural Myopathy

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Anatomical Context for Congenital Structural Myopathy

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Publications for Congenital Structural Myopathy

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Genes for Congenital Structural Myopathy

Genes related to Congenital Structural Myopathy (0 elite genes):

(show all 12)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	RYR1	Ryanodine Receptor 1	Protein Coding	19.77	DISEASES inferred ¹⁵
2	NEB	Nebulin	Protein Coding	19.67	DISEASES inferred ¹⁵
3	ACTA1	Actin, Alpha 1, Skeletal Muscle	Protein Coding	18.69	DISEASES inferred ¹⁵
4	TPM3	Tropomyosin 3	Protein Coding	18.41	DISEASES inferred ¹⁵
5	TPM2	Tropomyosin 2	Protein Coding	18.35	DISEASES inferred ¹⁵
6	LMOD3	Leiomodin 3	Protein Coding	17.95	DISEASES inferred ¹⁵
7	KBTBD13	Kelch Repeat And BTB Domain Containing 13	Protein Coding	17.78	DISEASES inferred ¹⁵
8	CFL2	Cofilin 2	Protein Coding	17.37	DISEASES inferred ¹⁵
9	KLHL40	Kelch Like Family Member 40	Protein Coding	17.33	DISEASES inferred ¹⁵
10	SELENON	Selenoprotein N	Protein Coding	17.31	DISEASES inferred ¹⁵
11	TNNT1	Troponin T1, Slow Skeletal Type	Protein Coding	16.62	DISEASES inferred ¹⁵
12	KLHL41	Kelch Like Family Member 41	Protein Coding	16.52	DISEASES inferred ¹⁵

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Variations for Congenital Structural Myopathy

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Expression for Congenital Structural Myopathy

Search GEO for disease gene expression data for Congenital Structural Myopathy.

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Pathways for Congenital Structural Myopathy

Pathways related to Congenital Structural Myopathy according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Cardiac conduction ⁶⁶ Show member pathways Classical Kir channels ⁶⁶ Ion homeostasis ⁶⁶ Ion transport by P-type ATPases ⁶⁶ Muscle contraction ⁶⁶ Phase 1 - inactivation of fast Na+ channels ⁶⁶ Phase 3 - rapid repolarisation ⁶⁶ Phase 4 - resting membrane potential ⁶⁶ Physiological factors ⁶⁶ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) ⁶⁶ Tandem pore domain halothane-inhibited K+ channel (THIK) ⁶⁶ Tandem pore domain potassium channels ⁶⁶ TWIK related potassium channel (TREK) ⁶⁶ TWIK-related alkaline pH activated K+ channel (TALK) ⁶⁶ TWIK-related spinal cord K+ channel (TRESK) ⁶⁶ TWIK-releated acid-sensitive K+ channel (TASK) ⁶⁶	12.08	NEB RYR1 TNNT1 TPM2 TPM3
2	Striated Muscle Contraction ¹ ⁶⁶	10.88	ACTA1 NEB TNNT1 TPM2 TPM3
3	Smooth Muscle Contraction ⁶⁶	10.71	TPM2 TPM3

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GO Terms for Congenital Structural Myopathy

Cellular components related to Congenital Structural Myopathy according to GeneCards Suite gene sharing:

(show all 15)

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoskeleton	GO:0005856	9.7	ACTA1 CFL2 KLHL41 LMOD3 NEB TPM2
2	Z disc	GO:0030018	9.58	CFL2 NEB RYR1
3	sarcomere	GO:0030017	9.55	ACTA1 NEB
4	stress fiber	GO:0001725	9.54	ACTA1 TPM3
5	sarcoplasmic reticulum	GO:0016529	9.52	KLHL41 RYR1
6	myofibril	GO:0030016	9.51	LMOD3 NEB
7	actin filament	GO:0005884	9.5	ACTA1 TPM2 TPM3
8	Cul3-RING ubiquitin ligase complex	GO:0031463	9.49	KLHL40 KLHL41
9	sarcoplasmic reticulum membrane	GO:0033017	9.48	KLHL41 RYR1
10	M band	GO:0031430	9.46	KLHL41 LMOD3
11	striated muscle thin filament	GO:0005865	9.43	ACTA1 LMOD3
12	A band	GO:0031672	9.37	KLHL40 LMOD3
13	muscle thin filament tropomyosin	GO:0005862	9.26	TPM2 TPM3
14	I band	GO:0031674	9.13	CFL2 KLHL40 RYR1
15	actin cytoskeleton	GO:0015629	9.02	ACTA1 CFL2 NEB TPM2 TPM3

Biological processes related to Congenital Structural Myopathy according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	muscle contraction	GO:0006936	9.63	ACTA1 LMOD3 RYR1 TNNT1 TPM2 TPM3
2	actin filament organization	GO:0007015	9.58	CFL2 TPM2 TPM3
3	striated muscle contraction	GO:0006941	9.46	KLHL41 LMOD3
4	skeletal muscle thin filament assembly	GO:0030240	9.43	ACTA1 LMOD3
5	sarcomere organization	GO:0045214	9.43	CFL2 KLHL41 TNNT1
6	myofibril assembly	GO:0030239	9.37	KLHL41 LMOD3
7	muscle filament sliding	GO:0030049	9.35	ACTA1 NEB TNNT1 TPM2 TPM3
8	cellular response to caffeine	GO:0071313	9.32	RYR1 SELENON
9	skeletal muscle fiber development	GO:0048741	9.1	ACTA1 KLHL40 KLHL41 LMOD3 RYR1 SELENON

Molecular functions related to Congenital Structural Myopathy according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	structural constituent of muscle	GO:0008307	9.16	NEB TPM2
2	tropomyosin binding	GO:0005523	8.96	LMOD3 TNNT1
3	actin filament binding	GO:0051015	8.92	CFL2 NEB TPM2 TPM3

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