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 ⁷²

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 ⁷² 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). 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 27)

#	Related Disease	Score	Top Affiliating Genes
1	nemaline myopathy	27.5	TPM3 TPM2 TNNT1 NEB LMOD3 KLHL41
2	centronuclear myopathy	11.4
3	foot drop	10.5	NEB ACTA1
4	arthrogryposis, distal, type 1a	10.3	TPM2 RYR1
5	congenital contractures	10.3	RYR1 LMOD3
6	multiple pterygium syndrome, lethal type	10.3	RYR1 NEB
7	camptodactyly-arthropathy-coxa vara-pericarditis syndrome	10.3	TPM3 TPM2
8	multiminicore disease	10.2	SELENON RYR1
9	arrhythmogenic right ventricular dysplasia, familial, 2	10.2	RYR2 RYR1
10	nemaline myopathy 2	10.2	TPM3 NEB
11	cardiac conduction defect	10.1	RYR2 RYR1
12	cap myopathy	10.1	TPM3 TPM2 ACTA1
13	rigid spine muscular dystrophy 1	10.0	SELENON RYR1 ACTA1
14	myopathy, tubular aggregate, 1	9.9	RYR1 ACTA1
15	malignant hyperthermia	9.9	RYR2 RYR1
16	myopathy, congenital, with fiber-type disproportion	9.7	TPM3 SELENON RYR1 ACTA1
17	muscular dystrophy	9.7	SELENON RYR1 NEB ACTA1
18	intermediate congenital nemaline myopathy	9.7	TPM3 NEB KLHL41 ACTA1
19	central core disease of muscle	9.6	SELENON RYR2 RYR1 NEB
20	central core myopathy	9.5	SELENON RYR2 RYR1 KBTBD13
21	severe congenital nemaline myopathy	9.3	NEB LMOD3 KLHL41 KLHL40 ACTA1
22	childhood-onset nemaline myopathy	9.0	TPM3 TPM2 NEB KLHL41 KBTBD13 ACTA1
23	congenital fiber-type disproportion	9.0	TPM3 TPM2 SELENON RYR1 CFL2 ACTA1
24	typical congenital nemaline myopathy	8.9	TPM2 NEB LMOD3 KLHL41 CFL2 ACTA1
25	myopathy, congenital	8.7	TPM3 TNNT1 SELENON RYR1 NEB ACTA1
26	muscular disease	8.4	TPM3 TPM2 SELENON RYR2 RYR1 NEB
27	myopathy	7.0	TPM3 TPM2 TNNT1 SELENON RYR1 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

MGI Mouse Phenotypes related to Congenital Structural Myopathy:

⁴⁶

#	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

Search Clinical Trials , 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 13)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	RYR1	Ryanodine Receptor 1	Protein Coding	19.74	DISEASES inferred ¹⁵
2	NEB	Nebulin	Protein Coding	19.56	DISEASES inferred ¹⁵
3	ACTA1	Actin Alpha 1, Skeletal Muscle	Protein Coding	18.68	DISEASES inferred ¹⁵
4	TPM3	Tropomyosin 3	Protein Coding	18.12	DISEASES inferred ¹⁵
5	LMOD3	Leiomodin 3	Protein Coding	18.05	DISEASES inferred ¹⁵
6	KBTBD13	Kelch Repeat And BTB Domain Containing 13	Protein Coding	17.82	DISEASES inferred ¹⁵
7	TPM2	Tropomyosin 2	Protein Coding	17.73	DISEASES inferred ¹⁵
8	KLHL40	Kelch Like Family Member 40	Protein Coding	17.69	DISEASES inferred ¹⁵
9	CFL2	Cofilin 2	Protein Coding	17.27	DISEASES inferred ¹⁵
10	SELENON	Selenoprotein N	Protein Coding	17.06	DISEASES inferred ¹⁵
11	KLHL41	Kelch Like Family Member 41	Protein Coding	17.01	DISEASES inferred ¹⁵
12	TNNT1	Troponin T1, Slow Skeletal Type	Protein Coding	16.8	DISEASES inferred ¹⁵
13	RYR2	Ryanodine Receptor 2	Protein Coding	16.49	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	12.16	TPM3 TPM2 TNNT1 RYR2 RYR1 NEB
2	Dilated cardiomyopathy (DCM) ³⁷ Show member pathways Hypertrophic cardiomyopathy (HCM) ³⁷	11.77	TPM3 TPM2 RYR2
3	Cardiac muscle contraction ³⁷	11.27	TPM3 TPM2 RYR2
4	Netrin Signaling ⁶⁴	11.09	RYR2 RYR1
5	Smooth Muscle Contraction ⁶⁶	10.92	TPM3 TPM2
6	Striated Muscle Contraction ¹ ⁶⁶	10.88	TPM3 TPM2 TNNT1 NEB ACTA1
7	Cell-type Dependent Selectivity of CCK2R Signaling ¹	10.37	RYR2 RYR1

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

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	TPM3 TPM2 CFL2
2	muscle contraction	GO:0006936	9.63	TPM3 TPM2 TNNT1 RYR1 LMOD3 ACTA1
3	cardiac muscle contraction	GO:0060048	9.55	TNNT1 RYR2
4	regulation of cytosolic calcium ion concentration	GO:0051480	9.54	RYR2 RYR1
5	release of sequestered calcium ion into cytosol	GO:0051209	9.52	RYR2 RYR1
6	regulation of cardiac conduction	GO:1903779	9.51	RYR2 RYR1
7	sarcomere organization	GO:0045214	9.5	TNNT1 KLHL41 CFL2
8	striated muscle contraction	GO:0006941	9.49	LMOD3 KLHL41
9	skeletal muscle thin filament assembly	GO:0030240	9.48	LMOD3 ACTA1
10	myofibril assembly	GO:0030239	9.43	LMOD3 KLHL41
11	response to caffeine	GO:0031000	9.4	RYR2 RYR1
12	release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	GO:0014808	9.37	RYR2 RYR1
13	muscle filament sliding	GO:0030049	9.35	TPM3 TPM2 TNNT1 NEB ACTA1
14	cellular response to caffeine	GO:0071313	9.26	RYR2 RYR1
15	skeletal muscle fiber development	GO:0048741	9.1	SELENON RYR1 LMOD3 KLHL41 KLHL40 ACTA1

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	TPM3 TPM2 NEB CFL2
2	structural constituent of muscle	GO:0008307	9.37	TPM2 NEB
3	tropomyosin binding	GO:0005523	9.32	TNNT1 LMOD3
4	calcium-release channel activity	GO:0015278	9.26	RYR2 RYR1
5	ryanodine-sensitive calcium-release channel activity	GO:0005219	8.96	RYR2 RYR1
6	calcium-induced calcium release activity	GO:0048763	8.62	RYR2 RYR1

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