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

MCID: CNG032 MIFTS: 27	Congenital Structural Myopathy Categories: Muscle diseases
Genes Tissues Related diseases Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Congenital Structural Myopathy

MalaCards integrated aliases for Congenital Structural Myopathy:

Name: Congenital Structural Myopathy ¹² ¹⁵ ⁷¹

Classifications:

MalaCards categories:
Anatomical: Muscle diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:422

MeSH ⁴³ D020914

NCIt ⁴⁹ C84648

UMLS ⁷¹ C0752282

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Summaries for Congenital Structural Myopathy

MalaCards based summary : Congenital Structural Myopathy is related to centronuclear myopathy and nemaline 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 DREAM Repression and Dynorphin Expression and Cardiac conduction. Affiliated tissues include skeletal muscle, and 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 top 50) (show all 56)

#	Related Disease	Score	Top Affiliating Genes
1	centronuclear myopathy	31.8	TPM2 SELENON RYR1 NEB MTM1 KLHL40
2	nemaline myopathy	31.7	TPM3 TPM2 TNNT1 NEB KLHL41 CFL2
3	congenital myopathy with cores	10.6	RYR1 ACTA1
4	skeletal muscle disease	10.5	RYR1 CFL2
5	foot drop	10.5	NEB ACTA1
6	multiminicore disease	10.5	SELENON RYR1
7	snail allergy	10.5	TPM3 TPM2
8	nemaline myopathy 11, autosomal recessive	10.5	LMOD3 KLHL40 KBTBD13
9	nemaline myopathy 3	10.5	LMOD3 KBTBD13 ACTA1
10	shrimp allergy	10.5	TPM3 TPM2
11	nemaline myopathy 7	10.4	KBTBD13 CFL2
12	reducing body myopathy	10.4	NEB KLHL40 CFL2
13	arthrogryposis, distal, type 1a	10.4	TPM2 RYR1 ACTA1
14	crustacean allergy	10.4	TPM3 TPM2
15	cap myopathy	10.4	TPM3 TPM2 ACTA1
16	fish allergy	10.4	TPM3 TPM2
17	congenital contractures	10.4	RYR1 LMOD3
18	nemaline myopathy 1	10.4	TPM3 KBTBD13 CTDNEP1
19	melon allergy	10.4	TPM3 TPM2
20	myopathy, spheroid body	10.4	NEB LMOD3
21	rigid spine muscular dystrophy 1	10.4	SELENON RYR1 ACTA1
22	nemaline myopathy 5	10.4	TNNT1 MTM1 KBTBD13
23	nemaline myopathy 9	10.4	LMOD3 KLHL41 KLHL40 KBTBD13
24	nemaline myopathy 8	10.4	LMOD3 KLHL41 KLHL40 KBTBD13
25	arrhythmogenic right ventricular dysplasia, familial, 2	10.3	RYR3 RYR2 RYR1
26	nemaline myopathy 10	10.3	LMOD3 KLHL41 KLHL40 KBTBD13
27	cardiomyopathy, familial hypertrophic, 6	10.3	TMOD1 LMOD3 LMOD2
28	intermediate congenital nemaline myopathy	10.3	TPM3 NEB KLHL41 ACTA1
29	nemaline myopathy 2	10.3	NEB KBTBD13
30	myopathy, congenital, bailey-bloch	10.3	SELENON RYR1 CACNA1S
31	ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	10.3	RYR3 RYR2 RYR1
32	myopathy, congenital, with fiber-type disproportion	10.3	TPM3 SELENON RYR1 ACTA1
33	myofibrillar myopathy	10.3	SELENON NEB ACTA1
34	muscle tissue disease	10.3	SELENON RYR1 NEB MTM1
35	severe congenital nemaline myopathy	10.3	NEB LMOD3 KLHL41 KLHL40 ACTA1
36	malignant hyperthermia susceptibility	10.2	RYR1 CACNA1S
37	catecholaminergic polymorphic ventricular tachycardia	10.2	RYR3 RYR2 RYR1
38	respiratory failure	10.2	SELENON RYR1 LMOD3 KLHL40 ACTA1
39	myopathy, centronuclear, 1	10.2	RYR1 MTM1
40	typical congenital nemaline myopathy	10.1	TPM2 NEB LMOD3 KLHL41 CFL2 ACTA1
41	multiple pterygium syndrome, escobar variant	10.1	TPM2 RYR1 NEB LMOD3 KLHL41 KLHL40
42	neuromuscular disease	10.1	RYR1 MTM1 CACNA1S ACTA1
43	childhood-onset nemaline myopathy	10.1	TPM3 TPM2 NEB KLHL41 KBTBD13 ACTA1
44	central core disease of muscle	10.1	SELENON RYR2 RYR1 NEB CACNA1S
45	muscular dystrophy	10.1	SELENON RYR2 RYR1 NEB ACTA1
46	left bundle branch hemiblock	10.0	TNNT1 RYR2
47	myopathy, congenital	9.9	TPM3 TPM2 SELENON RYR1 NEB MTM1
48	camptodactyly-arthropathy-coxa vara-pericarditis syndrome	9.9	TPM3 TPM2 TNNT1 SELENON NEB CFL2
49	congenital myasthenic syndrome	9.8	TPM2 SELENON RYR2 RYR1 MTM1 KLHL40
50	malignant hyperthermia	9.8	SELENON RYR3 RYR2 RYR1 MTM1 KBTBD13

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:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	10.03	ACTA1 CACNA1S CFL2 KLHL41 LMOD2 LMOD3
2	growth/size/body region	MP:0005378	9.97	ACTA1 CACNA1S CFL2 KLHL40 KLHL41 LMOD2
3	mortality/aging	MP:0010768	9.8	ACTA1 CACNA1S CFL2 CTDNEP1 KLHL40 KLHL41
4	muscle	MP:0005369	9.53	ACTA1 CACNA1S CFL2 KLHL40 KLHL41 LMOD2

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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

MalaCards organs/tissues related to Congenital Structural Myopathy:

⁴⁰

Skeletal Muscle

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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 31)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	RYR1	Ryanodine Receptor 1	Protein Coding	9.72	DISEASES inferred ¹⁵
2	NEB	Nebulin	Protein Coding	9.34	DISEASES inferred ¹⁵
3	KBTBD13	Kelch Repeat And BTB Domain Containing 13	Protein Coding	8.76	DISEASES inferred ¹⁵
4	LMOD3	Leiomodin 3	Protein Coding	8.73	DISEASES inferred ¹⁵
5	MIR455	MicroRNA 455	RNA Gene	8.57	DISEASES inferred ¹⁵ ¹⁵
6	ACTA1	Actin Alpha 1, Skeletal Muscle	Protein Coding	8.5	DISEASES inferred ¹⁵
7	KLHL40	Kelch Like Family Member 40	Protein Coding	8.48	DISEASES inferred ¹⁵
8	CFL2	Cofilin 2	Protein Coding	8.47	DISEASES inferred ¹⁵
9	TPM2	Tropomyosin 2	Protein Coding	8.41	DISEASES inferred ¹⁵
10	TPM3	Tropomyosin 3	Protein Coding	8.26	DISEASES inferred ¹⁵
11	KLHL41	Kelch Like Family Member 41	Protein Coding	7.89	DISEASES inferred ¹⁵
12	TNNT1	Troponin T1, Slow Skeletal Type	Protein Coding	7.7	DISEASES inferred ¹⁵
13	RYR2	Ryanodine Receptor 2	Protein Coding	7.59	DISEASES inferred ¹⁵
14	SELENON	Selenoprotein N	Protein Coding	7.57	DISEASES inferred ¹⁵
15	MTM1	Myotubularin 1	Protein Coding	7.55	DISEASES inferred ¹⁵
16	TMOD1	Tropomodulin 1	Protein Coding	7.44	DISEASES inferred ¹⁵
17	CTDNEP1	CTD Nuclear Envelope Phosphatase 1	Protein Coding	7.25	DISEASES inferred ¹⁵
18	LMOD2	Leiomodin 2	Protein Coding	7.23	DISEASES inferred ¹⁵
19	RYR3	Ryanodine Receptor 3	Protein Coding	7.19	DISEASES inferred ¹⁵
20	CACNA1S	Calcium Voltage-Gated Channel Subunit Alpha1 S	Protein Coding	7.18	DISEASES inferred ¹⁵
21	MYOT	Myotilin	Protein Coding	7.04	DISEASES inferred ¹⁵
22	MYPN	Myopalladin	Protein Coding	6.96	DISEASES inferred ¹⁵
23	TRDN	Triadin	Protein Coding	6.9	DISEASES inferred ¹⁵
24	TMOD3	Tropomodulin 3	Protein Coding	6.89	DISEASES inferred ¹⁵
25	TTN	Titin	Protein Coding	6.87	DISEASES inferred ¹⁵
26	TMOD4	Tropomodulin 4	Protein Coding	6.72	DISEASES inferred ¹⁵
27	MYH7	Myosin Heavy Chain 7	Protein Coding	6.69	DISEASES inferred ¹⁵
28	TNNT3	Troponin T3, Fast Skeletal Type	Protein Coding	6.57	DISEASES inferred ¹⁵
29	MYH6	Myosin Heavy Chain 6	Protein Coding	6.52	DISEASES inferred ¹⁵
30	TPM1	Tropomyosin 1	Protein Coding	6.5	DISEASES inferred ¹⁵
31	TPM4	Tropomyosin 4	Protein Coding	6.5	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:

(show all 14)

#	Super pathways	Score	Top Affiliating Genes
1	DREAM Repression and Dynorphin Expression ⁶³ Show member pathways BMP Pathway ⁶³ Calpain Protease Regulates Cellular Mechanics ⁶³ Caspase Cascade ⁶³ Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels ⁶⁵ nNOS Signaling in Skeletal Muscle ⁶³ TOB in Osteoblast Signaling ⁶³	12.43	RYR3 RYR2 RYR1 CACNA1S ACTA1
2	Cardiac conduction ⁶⁵ Show member pathways Classical Kir channels ⁶⁵ Ion homeostasis ⁶⁵ Ion transport by P-type ATPases ⁶⁵ Muscle contraction ⁶⁵ Phase 1 - inactivation of fast Na+ channels ⁶⁵ Phase 3 - rapid repolarisation ⁶⁵ Phase 4 - resting membrane potential ⁶⁵ Physiological factors ⁶⁵ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) ⁶⁵ Tandem pore domain halothane-inhibited K+ channel (THIK) ⁶⁵ Tandem pore domain potassium channels ⁶⁵ TWIK related potassium channel (TREK) ⁶⁵ TWIK-related alkaline pH activated K+ channel (TALK) ⁶⁵ TWIK-related spinal cord K+ channel (TRESK) ⁶⁵ TWIK-releated acid-sensitive K+ channel (TASK) ⁶⁵	12.34	TPM3 TPM2 TNNT1 TMOD1 RYR3 RYR2
3	cGMP-PKG signaling pathway ³⁶ Show member pathways Adrenergic signaling in cardiomyocytes ³⁶	12.32	TPM3 TPM2 RYR2 CACNA1S
4	Oxytocin signaling pathway ³⁶ Show member pathways Vascular smooth muscle contraction ³⁶	12.27	RYR3 RYR2 RYR1 CACNA1S
5	Myometrial Relaxation and Contraction Pathways ¹ Show member pathways Calcium Regulation in the Cardiac Cell ¹	12.26	RYR3 RYR2 RYR1 CACNA1S ACTA1
6	Calcium signaling pathway ³⁶ Show member pathways Oxytocin signaling ¹	12.07	RYR3 RYR2 RYR1 CACNA1S
7	Dilated cardiomyopathy (DCM) ³⁶ Show member pathways Hypertrophic cardiomyopathy (HCM) ³⁶	12.03	TPM3 TPM2 RYR2 CACNA1S
8	Presenilin-Mediated Signaling ⁶³	11.86	RYR3 RYR2 RYR1 CACNA1S
9	Apelin signaling pathway ³⁶	11.85	RYR3 RYR2 RYR1
10	Cardiac muscle contraction ³⁶	11.56	TPM3 TPM2 RYR2 CACNA1S
11	Netrin Signaling ⁶³	11.15	RYR3 RYR2 RYR1 CACNA1S
12	Striated Muscle Contraction ⁶⁵ ¹	10.96	TPM3 TPM2 TNNT1 TMOD1 NEB ACTA1
13	Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics ⁶⁰	10.57	RYR1 CACNA1S
14	Cell-type Dependent Selectivity of CCK2R Signaling ¹	10.55	RYR3 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 18)

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoplasm	GO:0005737	10.42	TPM3 TPM2 TMOD1 RYR1 NEB MTM1
2	cytoskeleton	GO:0005856	10.11	TPM3 TPM2 TMOD1 NEB LMOD3 LMOD2
3	actin cytoskeleton	GO:0015629	9.91	TPM3 TPM2 NEB CFL2 ACTA1
4	Z disc	GO:0030018	9.8	RYR3 RYR2 RYR1 NEB CFL2
5	sarcolemma	GO:0042383	9.75	RYR3 RYR2 RYR1
6	sarcoplasmic reticulum	GO:0016529	9.73	RYR3 RYR2 RYR1 KLHL41
7	smooth endoplasmic reticulum	GO:0005790	9.7	RYR3 RYR2 RYR1
8	M band	GO:0031430	9.67	LMOD3 LMOD2 KLHL41
9	myofibril	GO:0030016	9.67	TMOD1 NEB LMOD3 LMOD2
10	calcium channel complex	GO:0034704	9.65	RYR3 RYR2 RYR1
11	actin filament	GO:0005884	9.65	TPM3 TPM2 TMOD1 LMOD2 ACTA1
12	sarcoplasmic reticulum membrane	GO:0033017	9.62	RYR3 RYR2 RYR1 KLHL41
13	A band	GO:0031672	9.57	LMOD3 KLHL40
14	junctional sarcoplasmic reticulum membrane	GO:0014701	9.56	RYR2 RYR1
15	muscle thin filament tropomyosin	GO:0005862	9.54	TPM3 TPM2
16	striated muscle thin filament	GO:0005865	9.46	TMOD1 LMOD3 LMOD2 ACTA1
17	I band	GO:0031674	9.35	RYR1 MTM1 KLHL40 CFL2 CACNA1S
18	sarcomere	GO:0030017	9.1	TMOD1 RYR2 NEB MTM1 LMOD2 ACTA1

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

(show all 19)

#	Name	GO ID	Score	Top Affiliating Genes
1	calcium ion transport	GO:0006816	9.76	RYR3 RYR2 RYR1 CACNA1S
2	actin filament organization	GO:0007015	9.75	TPM3 TPM2 CFL2
3	cellular calcium ion homeostasis	GO:0006874	9.74	RYR3 RYR2 RYR1
4	calcium ion transmembrane transport	GO:0070588	9.73	RYR3 RYR2 RYR1 CACNA1S
5	muscle filament sliding	GO:0030049	9.73	TPM3 TPM2 TNNT1 TMOD1 NEB ACTA1
6	sarcomere organization	GO:0045214	9.71	TNNT1 LMOD2 KLHL41 CFL2
7	release of sequestered calcium ion into cytosol	GO:0051209	9.67	RYR3 RYR2 RYR1
8	regulation of cardiac conduction	GO:1903779	9.65	RYR3 RYR2 RYR1
9	myofibril assembly	GO:0030239	9.62	TMOD1 LMOD3 LMOD2 KLHL41
10	muscle cell cellular homeostasis	GO:0046716	9.58	MTM1 CFL2
11	striated muscle contraction	GO:0006941	9.56	LMOD3 KLHL41
12	actin nucleation	GO:0045010	9.55	LMOD3 LMOD2
13	cellular response to caffeine	GO:0071313	9.55	SELENON RYR3 RYR2 RYR1 CACNA1S
14	response to caffeine	GO:0031000	9.54	RYR2 RYR1
15	pointed-end actin filament capping	GO:0051694	9.54	TMOD1 LMOD3 LMOD2
16	skeletal muscle thin filament assembly	GO:0030240	9.52	LMOD3 ACTA1
17	release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	GO:0014808	9.51	RYR2 RYR1
18	skeletal muscle fiber development	GO:0048741	9.43	SELENON RYR1 LMOD3 KLHL41 KLHL40 ACTA1
19	muscle contraction	GO:0006936	9.28	TPM3 TPM2 TNNT1 TMOD1 RYR1 LMOD3

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

#	Name	GO ID	Score	Top Affiliating Genes
1	actin binding	GO:0003779	9.73	TPM3 TPM2 TMOD1 LMOD2
2	actin filament binding	GO:0051015	9.72	TPM3 TPM2 TMOD1 NEB CFL2
3	calmodulin binding	GO:0005516	9.71	RYR3 RYR2 RYR1 CACNA1S
4	calcium channel activity	GO:0005262	9.67	RYR3 RYR2 RYR1 CACNA1S
5	calcium-release channel activity	GO:0015278	9.43	RYR3 RYR2 RYR1
6	calcium-induced calcium release activity	GO:0048763	9.33	RYR3 RYR2 RYR1
7	ryanodine-sensitive calcium-release channel activity	GO:0005219	9.13	RYR3 RYR2 RYR1
8	tropomyosin binding	GO:0005523	8.92	TNNT1 TMOD1 LMOD3 LMOD2

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Sources for Congenital Structural Myopathy

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