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 ⁷⁴

Classifications:

MalaCards categories:
Anatomical: Muscle diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:422

MeSH ⁴⁵ D020914

NCIt ⁵¹ C84648

UMLS ⁷⁴ 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 cramp. An important gene associated with Congenital Structural Myopathy is RYR1 (Ryanodine Receptor 1), and among its related pathways/superpathways are Cardiac conduction and Dilated cardiomyopathy (DCM). Affiliated tissues include testes, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

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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 28)

#	Related Disease	Score	Top Affiliating Genes
1	nemaline myopathy	28.9	ACTA1 CFL2 KBTBD13 KLHL40 KLHL41 LMOD3
2	centronuclear myopathy	11.3
3	foot drop	10.3	ACTA1 NEB
4	arthrogryposis, distal, type 1a	10.2	RYR1 TPM2
5	congenital contractures	10.2	LMOD3 RYR1
6	multiple pterygium syndrome, lethal type	10.2	NEB RYR1
7	camptodactyly-arthropathy-coxa vara-pericarditis syndrome	10.2	TPM2 TPM3
8	multiminicore disease	10.1	RYR1 SELENON
9	arrhythmogenic right ventricular dysplasia, familial, 2	10.1	RYR1 RYR2
10	nemaline myopathy 2	10.1	NEB TPM3
11	cardiac conduction defect	10.1	RYR1 RYR2
12	cap myopathy	10.1	ACTA1 TPM2 TPM3
13	rigid spine muscular dystrophy 1	10.0	ACTA1 RYR1 SELENON
14	myopathy, tubular aggregate, 1	10.0	ACTA1 RYR1
15	malignant hyperthermia	9.9	RYR1 RYR2
16	myopathy, congenital, with fiber-type disproportion	9.8	ACTA1 RYR1 SELENON TPM3
17	muscular dystrophy	9.8	ACTA1 NEB RYR1 SELENON
18	intermediate congenital nemaline myopathy	9.8	ACTA1 KLHL41 NEB TPM3
19	central core disease of muscle	9.7	NEB RYR1 RYR2 SELENON
20	muscle disorders	9.7	RYR1 RYR2 SELENON TPM3
21	central core myopathy	9.7	KBTBD13 RYR1 RYR2 SELENON
22	severe congenital nemaline myopathy	9.6	ACTA1 KLHL40 KLHL41 LMOD3 NEB
23	childhood-onset nemaline myopathy	9.4	ACTA1 KBTBD13 KLHL41 NEB TPM2 TPM3
24	congenital fiber-type disproportion	9.4	ACTA1 CFL2 RYR1 SELENON TPM2 TPM3
25	typical congenital nemaline myopathy	9.3	ACTA1 CFL2 KLHL41 LMOD3 NEB TPM2
26	myopathy, congenital	9.2	ACTA1 NEB RYR1 SELENON TNNT1 TPM3
27	muscular disease	9.0	ACTA1 KBTBD13 NEB RYR1 RYR2 SELENON
28	myopathy	8.1	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 cramp, muscle rigidity, muscle spasticity

GenomeRNAi Phenotypes related to Congenital Structural Myopathy according to GeneCards Suite gene sharing:

²⁷ (show all 19)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-114	9.64	TPM2
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-120	9.64	RYR1
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-126	9.64	RYR2
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-131	9.64	TPM2
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-133	9.64	RYR1
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-138	9.64	TPM2
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-147	9.64	RYR2
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-156	9.64	RYR2
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-163	9.64	RYR1
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-164	9.64	RYR2
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-168	9.64	RYR1
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-190	9.64	RYR1
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-196	9.64	TPM2
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-3	9.64	RYR2
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-42	9.64	TPM2
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-52	9.64	TPM2
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-57	9.64	RYR1 RYR2 TPM2
18	Increased shRNA abundance (Z-score > 2)	GR00366-A-80	9.64	RYR1
19	Increased shRNA abundance (Z-score > 2)	GR00366-A-92	9.64	RYR1

MGI Mouse Phenotypes related to Congenital Structural Myopathy:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	9.76	ACTA1 CFL2 KLHL41 LMOD3 NEB RYR1
2	growth/size/body region	MP:0005378	9.61	ACTA1 CFL2 KLHL40 KLHL41 LMOD3 NEB
3	muscle	MP:0005369	9.36	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

MalaCards organs/tissues related to Congenital Structural Myopathy:

⁴²

Testes

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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 13)

- 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	19.62	DISEASES inferred ¹⁵
3	ACTA1	Actin Alpha 1, Skeletal Muscle	Protein Coding	18.72	DISEASES inferred ¹⁵
4	TPM3	Tropomyosin 3	Protein Coding	18.24	DISEASES inferred ¹⁵
5	LMOD3	Leiomodin 3	Protein Coding	17.96	DISEASES inferred ¹⁵
6	KBTBD13	Kelch Repeat And BTB Domain Containing 13	Protein Coding	17.86	DISEASES inferred ¹⁵
7	TPM2	Tropomyosin 2	Protein Coding	17.78	DISEASES inferred ¹⁵
8	KLHL40	Kelch Like Family Member 40	Protein Coding	17.46	DISEASES inferred ¹⁵
9	CFL2	Cofilin 2	Protein Coding	17.34	DISEASES inferred ¹⁵
10	SELENON	Selenoprotein N	Protein Coding	17.13	DISEASES inferred ¹⁵
11	KLHL41	Kelch Like Family Member 41	Protein Coding	17.02	DISEASES inferred ¹⁵
12	TNNT1	Troponin T1, Slow Skeletal Type	Protein Coding	16.68	DISEASES inferred ¹⁵
13	RYR2	Ryanodine Receptor 2	Protein Coding	16.37	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 ⁶⁷ Show member pathways Classical Kir channels ⁶⁷ Ion homeostasis ⁶⁷ Ion transport by P-type ATPases ⁶⁷ Muscle contraction ⁶⁷ Phase 1 - inactivation of fast Na+ channels ⁶⁷ Phase 3 - rapid repolarisation ⁶⁷ Phase 4 - resting membrane potential ⁶⁷ Physiological factors ⁶⁷ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) ⁶⁷ Tandem pore domain halothane-inhibited K+ channel (THIK) ⁶⁷ Tandem pore domain potassium channels ⁶⁷ TWIK related potassium channel (TREK) ⁶⁷ TWIK-related alkaline pH activated K+ channel (TALK) ⁶⁷ TWIK-related spinal cord K+ channel (TRESK) ⁶⁷ TWIK-releated acid-sensitive K+ channel (TASK) ⁶⁷	12.16	NEB RYR1 RYR2 TNNT1 TPM2 TPM3
2	Dilated cardiomyopathy (DCM) ³⁸ Show member pathways Hypertrophic cardiomyopathy (HCM) ³⁸	11.74	RYR2 TPM2 TPM3
3	Cardiac muscle contraction ³⁸	11.22	RYR2 TPM2 TPM3
4	Netrin Signaling ⁶⁵	11.09	RYR1 RYR2
5	Smooth Muscle Contraction ⁶⁷	10.92	TPM2 TPM3
6	Striated Muscle Contraction ¹ ⁶⁷	10.88	ACTA1 NEB TNNT1 TPM2 TPM3
7	Cell-type Dependent Selectivity of CCK2R Signaling ¹	10.37	RYR1 RYR2

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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 17)

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoskeleton	GO:0005856	9.87	ACTA1 CFL2 KLHL41 LMOD3 NEB TPM2
2	actin filament	GO:0005884	9.63	ACTA1 TPM2 TPM3
3	sarcomere	GO:0030017	9.61	ACTA1 NEB RYR2
4	sarcoplasmic reticulum	GO:0016529	9.58	KLHL41 RYR1 RYR2
5	myofibril	GO:0030016	9.57	LMOD3 NEB
6	Cul3-RING ubiquitin ligase complex	GO:0031463	9.56	KLHL40 KLHL41
7	M band	GO:0031430	9.55	KLHL41 LMOD3
8	smooth endoplasmic reticulum	GO:0005790	9.54	RYR1 RYR2
9	calcium channel complex	GO:0034704	9.52	RYR1 RYR2
10	striated muscle thin filament	GO:0005865	9.51	ACTA1 LMOD3
11	A band	GO:0031672	9.49	KLHL40 LMOD3
12	junctional sarcoplasmic reticulum membrane	GO:0014701	9.48	RYR1 RYR2
13	Z disc	GO:0030018	9.46	CFL2 NEB RYR1 RYR2
14	sarcoplasmic reticulum membrane	GO:0033017	9.43	KLHL41 RYR1 RYR2
15	muscle thin filament tropomyosin	GO:0005862	9.37	TPM2 TPM3
16	I band	GO:0031674	9.13	CFL2 KLHL40 RYR1
17	actin cytoskeleton	GO:0015629	9.02	ACTA1 CFL2 NEB TPM2 TPM3

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

(show all 15)

#	Name	GO ID	Score	Top Affiliating Genes
1	actin filament organization	GO:0007015	9.63	CFL2 TPM2 TPM3
2	muscle contraction	GO:0006936	9.63	ACTA1 LMOD3 RYR1 TNNT1 TPM2 TPM3
3	cardiac muscle contraction	GO:0060048	9.55	RYR2 TNNT1
4	regulation of cytosolic calcium ion concentration	GO:0051480	9.54	RYR1 RYR2
5	release of sequestered calcium ion into cytosol	GO:0051209	9.52	RYR1 RYR2
6	regulation of cardiac conduction	GO:1903779	9.51	RYR1 RYR2
7	sarcomere organization	GO:0045214	9.5	CFL2 KLHL41 TNNT1
8	striated muscle contraction	GO:0006941	9.49	KLHL41 LMOD3
9	skeletal muscle thin filament assembly	GO:0030240	9.48	ACTA1 LMOD3
10	myofibril assembly	GO:0030239	9.43	KLHL41 LMOD3
11	response to caffeine	GO:0031000	9.4	RYR1 RYR2
12	release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	GO:0014808	9.37	RYR1 RYR2
13	muscle filament sliding	GO:0030049	9.35	ACTA1 NEB TNNT1 TPM2 TPM3
14	cellular response to caffeine	GO:0071313	9.26	RYR1 RYR2
15	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	actin filament binding	GO:0051015	9.46	CFL2 NEB TPM2 TPM3
2	structural constituent of muscle	GO:0008307	9.37	NEB TPM2
3	tropomyosin binding	GO:0005523	9.32	LMOD3 TNNT1
4	calcium-release channel activity	GO:0015278	9.26	RYR1 RYR2
5	calcium-induced calcium release activity	GO:0048763	8.96	RYR1 RYR2
6	ryanodine-sensitive calcium-release channel activity	GO:0005219	8.62	RYR1 RYR2

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