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

MCID: CNG032 MIFTS: 26	Congenital Structural Myopathy Categories: Muscle diseases
Genes Related diseases Pathways Symptoms & Phenotypes Expand all tables

Sources

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

Sources

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 nNOS Signaling in Skeletal Muscle and Cardiac conduction. Related phenotypes are behavior/neurological and growth/size/body region

Sources

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 74)

#	Related Disease	Score	Top Affiliating Genes
1	centronuclear myopathy	32.0	TPM2 SELENON RYR1 NEB MTM1 KLHL40
2	nemaline myopathy	31.8	TPM3 TPM2 TNNT1 NEB KLHL41 CFL2
3	skeletal muscle disease	10.6	RYR1 CFL2
4	congenital myopathy with cores	10.6	RYR1 ACTA1
5	foot drop	10.5	NEB ACTA1
6	snail allergy	10.5	TPM3 TPM2
7	nemaline myopathy 8	10.5	LMOD3 KLHL40 KBTBD13
8	multiminicore disease	10.5	SELENON RYR1
9	nemaline myopathy 11, autosomal recessive	10.5	LMOD3 KBTBD13
10	crab allergy	10.5	TPM3 TPM2
11	congenital muscular dystrophy-dystroglycanopathy type a10	10.5	SELENON KBTBD13
12	congenital muscular dystrophy-dystroglycanopathy a14	10.5	SELENON KBTBD13
13	crustacean allergy	10.5	TPM3 TPM2
14	cap myopathy	10.5	TPM3 TPM2 ACTA1
15	shrimp allergy	10.5	TPM3 TPM2
16	nemaline myopathy 7	10.5	KBTBD13 CFL2
17	congenital contractures	10.5	RYR1 LMOD3
18	nemaline myopathy 1	10.4	TPM3 KBTBD13 CTDNEP1
19	autosomal dominant distal myopathy	10.4	MYOT ACTA1
20	myopathy, spheroid body	10.4	NEB MYOT LMOD3
21	nemaline myopathy 5	10.4	TNNT1 MTM1 KBTBD13
22	nemaline myopathy 9	10.4	LMOD3 KLHL41 KLHL40 KBTBD13
23	intermediate congenital nemaline myopathy	10.4	TPM3 NEB KLHL41 ACTA1
24	arrhythmogenic right ventricular dysplasia, familial, 2	10.4	RYR3 RYR2 RYR1
25	nemaline myopathy 4	10.4	TPM2 LMOD3 KLHL41 KBTBD13
26	scapuloperoneal syndrome, neurogenic, kaeser type	10.4	SELENON NEB MYOT
27	cardiomyopathy, familial hypertrophic, 6	10.4	TMOD1 LMOD2
28	capillary malformations, congenital	10.4	RYR3 RYR2 RYR1
29	melon allergy	10.4	TPM3 TPM2
30	myopathy, congenital, bailey-bloch	10.4	SELENON RYR1 CACNA1S
31	ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	10.4	RYR3 RYR2 RYR1
32	myopathy, myofibrillar, 4	10.3	NEB MYOT
33	megacystis-microcolon-intestinal hypoperistalsis syndrome	10.3	TMOD1 LMOD3 LMOD2
34	myopathy, myofibrillar, 1	10.3	SELENON NEB MYOT
35	myopathy, congenital, with fiber-type disproportion	10.3	TPM3 SELENON RYR1 ACTA1
36	arthrogryposis, distal, type 1a	10.3	TPM3 TPM2 RYR1 ACTA1
37	distal arthrogryposis	10.3	TPM2 RYR1 NEB ACTA1
38	myopathy, centronuclear, 2	10.3	TPM3 TPM2 RYR1 MTM1
39	reducing body myopathy 1a	10.3	NEB MYOT KLHL40 CFL2
40	muscular disease	10.3	RYR1 NEB MYOT MTM1
41	severe congenital nemaline myopathy	10.3	NEB LMOD3 KLHL41 KLHL40 ACTA1
42	nemaline myopathy 2	10.3	NEB LMOD3 KLHL41 KBTBD13 CFL2
43	nemaline myopathy 10	10.3	LMOD3 KLHL41 KLHL40 KBTBD13 CFL2
44	fetal akinesia deformation sequence 1	10.3	RYR1 KLHL40 ACTA1
45	malignant hyperthermia susceptibility	10.3	RYR1 CACNA1S
46	camptodactyly-arthropathy-coxa vara-pericarditis syndrome	10.3	TPM3 TPM2 NEB CFL2 ACTA1
47	bethlem myopathy 1	10.3	SELENON RYR1 NEB MYOT
48	rigid spine muscular dystrophy 1	10.3	SELENON RYR1 MYOT ACTA1
49	catecholaminergic polymorphic ventricular tachycardia	10.2	RYR3 RYR2 RYR1
50	myofibrillar myopathy	10.2	SELENON NEB MYOT ACTA1

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

Sources

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	9.77	ACTA1 CACNA1S CFL2 CTDNEP1 KLHL40 KLHL41
4	muscle	MP:0005369	9.53	ACTA1 CACNA1S CFL2 KLHL40 KLHL41 LMOD2

Sources

Drugs & Therapeutics for Congenital Structural Myopathy

Search Clinical Trials , NIH Clinical Center for Congenital Structural Myopathy

Sources

Genetic Tests for Congenital Structural Myopathy

Sources

Anatomical Context for Congenital Structural Myopathy

Sources

Publications for Congenital Structural Myopathy

Sources

Genes for Congenital Structural Myopathy

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

(show all 32)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	RYR1	Ryanodine Receptor 1	Protein Coding	9.69	DISEASES inferred ¹⁵
2	NEB	Nebulin	Protein Coding	9.43	DISEASES inferred ¹⁵
3	LMOD3	Leiomodin 3	Protein Coding	8.83	DISEASES inferred ¹⁵
4	KBTBD13	Kelch Repeat And BTB Domain Containing 13	Protein Coding	8.81	DISEASES inferred ¹⁵
5	ACTA1	Actin Alpha 1, Skeletal Muscle	Protein Coding	8.59	DISEASES inferred ¹⁵
6	KLHL40	Kelch Like Family Member 40	Protein Coding	8.56	DISEASES inferred ¹⁵
7	CFL2	Cofilin 2	Protein Coding	8.49	DISEASES inferred ¹⁵
8	TPM2	Tropomyosin 2	Protein Coding	8.34	DISEASES inferred ¹⁵
9	TPM3	Tropomyosin 3	Protein Coding	8.22	DISEASES inferred ¹⁵
10	KLHL41	Kelch Like Family Member 41	Protein Coding	8.07	DISEASES inferred ¹⁵
11	TNNT1	Troponin T1, Slow Skeletal Type	Protein Coding	7.72	DISEASES inferred ¹⁵
12	MTM1	Myotubularin 1	Protein Coding	7.54	DISEASES inferred ¹⁵
13	RYR2	Ryanodine Receptor 2	Protein Coding	7.53	DISEASES inferred ¹⁵
14	TMOD1	Tropomodulin 1	Protein Coding	7.48	DISEASES inferred ¹⁵
15	SELENON	Selenoprotein N	Protein Coding	7.46	DISEASES inferred ¹⁵
16	LMOD2	Leiomodin 2	Protein Coding	7.42	DISEASES inferred ¹⁵
17	CTDNEP1	CTD Nuclear Envelope Phosphatase 1	Protein Coding	7.28	DISEASES inferred ¹⁵
18	RYR3	Ryanodine Receptor 3	Protein Coding	7.2	DISEASES inferred ¹⁵
19	MYOT	Myotilin	Protein Coding	7.13	DISEASES inferred ¹⁵
20	CACNA1S	Calcium Voltage-Gated Channel Subunit Alpha1 S	Protein Coding	7.12	DISEASES inferred ¹⁵
21	MYPN	Myopalladin	Protein Coding	7.12	DISEASES inferred ¹⁵
22	TMOD3	Tropomodulin 3	Protein Coding	6.92	DISEASES inferred ¹⁵
23	TTN	Titin	Protein Coding	6.89	DISEASES inferred ¹⁵
24	TMOD4	Tropomodulin 4	Protein Coding	6.86	DISEASES inferred ¹⁵
25	TRDN	Triadin	Protein Coding	6.76	DISEASES inferred ¹⁵
26	MYH7	Myosin Heavy Chain 7	Protein Coding	6.62	DISEASES inferred ¹⁵
27	NEBL	Nebulette	Protein Coding	6.54	DISEASES inferred ¹⁵
28	TNNT3	Troponin T3, Fast Skeletal Type	Protein Coding	6.48	DISEASES inferred ¹⁵
29	MYH6	Myosin Heavy Chain 6	Protein Coding	6.46	DISEASES inferred ¹⁵
30	TPM4	Tropomyosin 4	Protein Coding	6.45	DISEASES inferred ¹⁵
31	CFL1	Cofilin 1	Protein Coding	6.36	DISEASES inferred ¹⁵
32	TPM1	Tropomyosin 1	Protein Coding	6.36	DISEASES inferred ¹⁵

Sources

Variations for Congenital Structural Myopathy

Sources

Expression for Congenital Structural Myopathy

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

Sources

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	nNOS Signaling in Skeletal Muscle 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 DREAM Repression and Dynorphin Expression 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	12.08	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

Sources

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	10.4	TPM3 TPM2 TMOD1 RYR1 NEB MYOT
2	cytoskeleton	GO:0005856	10.07	TPM3 TPM2 TMOD1 NEB MYOT LMOD3
3	actin cytoskeleton	GO:0015629	9.91	TPM3 TPM2 NEB MYOT CFL2 ACTA1
4	sarcolemma	GO:0042383	9.84	RYR3 RYR2 RYR1 MYOT
5	sarcoplasmic reticulum	GO:0016529	9.78	RYR3 RYR2 RYR1 KLHL41
6	myofibril	GO:0030016	9.76	TMOD1 NEB LMOD3 LMOD2
7	Z disc	GO:0030018	9.73	RYR3 RYR2 RYR1 NEB MYOT CFL2
8	smooth endoplasmic reticulum	GO:0005790	9.72	RYR3 RYR2 RYR1
9	actin filament	GO:0005884	9.72	TPM3 TPM2 TMOD1 LMOD2 ACTA1
10	sarcoplasmic reticulum membrane	GO:0033017	9.71	RYR3 RYR2 RYR1 KLHL41
11	M band	GO:0031430	9.7	LMOD3 LMOD2 KLHL41
12	calcium channel complex	GO:0034704	9.69	RYR3 RYR2 RYR1
13	A band	GO:0031672	9.58	LMOD3 KLHL40
14	junctional sarcoplasmic reticulum membrane	GO:0014701	9.57	RYR2 RYR1
15	muscle thin filament tropomyosin	GO:0005862	9.56	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	actin filament organization	GO:0007015	9.85	TPM3 TPM2 TMOD1 LMOD3 LMOD2 CFL2
2	calcium ion transport	GO:0006816	9.78	RYR3 RYR2 RYR1 CACNA1S
3	calcium ion transmembrane transport	GO:0070588	9.76	RYR3 RYR2 RYR1 CACNA1S
4	cellular calcium ion homeostasis	GO:0006874	9.74	RYR3 RYR2 RYR1
5	sarcomere organization	GO:0045214	9.73	TNNT1 LMOD2 KLHL41 CFL2
6	regulation of cardiac conduction	GO:1903779	9.69	RYR3 RYR2 RYR1
7	release of sequestered calcium ion into cytosol	GO:0051209	9.67	RYR3 RYR2 RYR1
8	muscle filament sliding	GO:0030049	9.63	TPM3 TPM2 TNNT1 TMOD1 NEB ACTA1
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	9.58	LMOD3 KLHL41
12	pointed-end actin filament capping	GO:0051694	9.58	TMOD1 LMOD3 LMOD2
13	actin nucleation	GO:0045010	9.56	LMOD3 LMOD2
14	cellular response to caffeine	GO:0071313	9.56	RYR3 RYR2 RYR1 CACNA1S
15	response to caffeine	GO:0031000	9.55	RYR2 RYR1
16	skeletal muscle thin filament assembly	GO:0030240	9.54	LMOD3 ACTA1
17	release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	GO:0014808	9.52	RYR2 RYR1
18	skeletal muscle fiber development	GO:0048741	9.43	SELENON RYR1 LMOD3 KLHL41 KLHL40 ACTA1
19	muscle contraction	GO:0006936	9.32	TPM3 TPM2 TNNT1 TMOD1 RYR1 MYOT

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	9.8	TPM3 TPM2 TMOD1 NEB MYOT LMOD2
2	calmodulin binding	GO:0005516	9.78	RYR3 RYR2 RYR1 CACNA1S
3	actin filament binding	GO:0051015	9.77	TPM3 TPM2 TMOD1 NEB CFL2
4	ion channel activity	GO:0005216	9.76	RYR3 RYR2 RYR1 CACNA1S
5	calcium channel activity	GO:0005262	9.71	RYR3 RYR2 RYR1 CACNA1S
6	structural constituent of muscle	GO:0008307	9.61	TPM2 NEB MYOT
7	calcium-release channel activity	GO:0015278	9.5	RYR3 RYR2 RYR1
8	calcium-induced calcium release activity	GO:0048763	9.33	RYR3 RYR2 RYR1
9	ryanodine-sensitive calcium-release channel activity	GO:0005219	9.13	RYR3 RYR2 RYR1
10	tropomyosin binding	GO:0005523	8.92	TNNT1 TMOD1 LMOD3 LMOD2

Sources

Sources for Congenital Structural Myopathy

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia