MCID: MYP132
MIFTS: 55

Myopathy, Congenital

Categories: Bone diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Myopathy, Congenital

MalaCards integrated aliases for Myopathy, Congenital:

Name: Myopathy, Congenital 56 54
Congenital Myopathy 12 74 52 53 58 36 29 6 15
Batten-Turner Congenital Myopathy 56
Batten Turner Congenital Myopathy 52
Myopathy - Congenital 53
Myopathy Congenital 52
Myotonia Congenita 71

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
myopathy, congenital:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0080100
OMIM 56 255300
KEGG 36 H01810
ICD10 32 G71.2
ICD10 via Orphanet 33 G71.2
UMLS via Orphanet 72 C0027127 C0270960
Orphanet 58 ORPHA97245
MedGen 41 C0027127
SNOMED-CT via HPO 68 129565002 258211005 88425004
UMLS 71 C0027127

Summaries for Myopathy, Congenital

NINDS : 53 A myopathy is a disorder of the muscles that usually results in weakness. Congenital myopathy refers to a group of muscle disorders that appear at birth or in infancy. Typically, an infant with a congenital myopathy will be "floppy," have difficulty breathing or feeding, and will lag behind other babies in meeting normal developmental milestones such as turning over or sitting up. Muscle weakness can occur for many reasons, including a problem with the muscle, a problem with the nerve that stimulates the muscle, or a problem with the brain. Therefore, to diagnose a congenital myopathy, a neurologist will perform a detailed physical exam as well as tests to determine the cause of weakness. If a myopathy is suspected, possible tests include a blood test for a muscle enzyme called creatine kinase, an electromyogram (EMG) to evaluate the electrical activity of the muscle, a muscle biopsy, and genetic testing. There are currently seven distinct types of congenital myopathy, with some variation in symptoms, complications, treatment options, and outlook. Nemaline myopathy is the most common congenital myopathy. Infants usually have problems with breathing and feeding. Later, some skeletal problems may arise, such as scoliosis (curvature of the spine). In general, the weakness does not worsen during life. Myotubular myopathy is rare and only affects boys. Weakness and floppiness are so severe that a mother may notice reduced movements of the baby in her womb during pregnancy. There are usually significant breathing and swallowing difficulties; many children do not survive infancy. Osteopenia (weakening of the bones) is also associated with this disorder. Centronuclear myopathy is rare and begins in infancy or early childhood with weakness of the arms and legs, droopy eyelids, and problems with eye movements. Weakness often gets worse with time. Central core disease varies among children with regard to the severity of problems and the degree of worsening over time. Usually, there is mild floppiness in infancy, delayed milestones, and moderate limb weakness, which do not worsen much over time. Children with central core disease may have life-threatening reactions to general anesthesia. Treatment with the drug salbutamol has been shown to reduce weakness significantly, although it does not cure the disorder. Multi-minicore disease has several different subtypes. Common to most is severe weakness of the limbs and scoliosis. Often breathing difficulties occur as well. Some children have weakened eye movements. Congenital fiber-type disproportion myopathy is a rare disorder that begins with floppiness, limb and facial weakness, and breathing problems. Hyaline body myopathy is a disorder characterized by the specific appearance under the microscope of a sample of muscle tissue. It probably includes several different causes. Because of this, the symptoms are quite variable.

MalaCards based summary : Myopathy, Congenital, also known as congenital myopathy, is related to myopathy, congenital, bailey-bloch and myopathy, congenital, with fiber-type disproportion. An important gene associated with Myopathy, Congenital is MYH7 (Myosin Heavy Chain 7), and among its related pathways/superpathways are Actin Nucleation by ARP-WASP Complex and Sertoli-Sertoli Cell Junction Dynamics. The drugs Mexiletine and Lamotrigine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, bone and testes, and related phenotypes are abnormality of the nervous system and myopathy

KEGG : 36 The congenital myopathies are a group of genetic muscle disorders characterised clinically by hypotonia and weakness, usually from birth, and a static or slowly progressive clinical course. Congenital myopathies are mainly defined by the predominant histopathological features which include nemaline rods, central cores, multiple minicores, central nuclei, and selective hypotrophy of type 1 fibres. Based on these features, individual congenital myopathies such as nemaline myopathy, central core disease, multi-minicore disease, centronuclear myopathy, and congenital fiber type disproportion were reported. Over the past decade there have been major advances in defining the genetic basis of the majority of congenital myopathy subtypes. However the relationship between each congenital myopathy, defined on histological grounds, and the genetic cause is complex. Many of the congenital myopathies are due to mutations in more than one gene, and mutations in the same gene can cause different muscle pathologies.

Wikipedia : 74 Congenital myopathy is a very broad term for any muscle disorder present at birth. This defect primarily... more...

More information from OMIM: 255300

Related Diseases for Myopathy, Congenital

Diseases in the Myopathy family:

Myopathy Due to Malate-Aspartate Shuttle Defect Myopathy, Congenital
Gne-Related Myopathy Benign Autosomal Dominant Myopathy

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

(show top 50) (show all 281)
# Related Disease Score Top Affiliating Genes
1 myopathy, congenital, bailey-bloch 34.4 STAC3 SELENON RYR1
2 myopathy, congenital, with fiber-type disproportion 33.9 TPM3 SELENON RYR1 MYH7 HACD1 ACTA1
3 multiminicore disease 33.4 SELENON RYR1
4 nemaline myopathy 32.8 TPM3 TPM2 NEB ACTA1
5 reducing body myopathy 32.7 NEB DMD DES
6 congenital myopathy with cores 32.4 RYR1 ACTA1
7 myopathy, centronuclear, 1 32.4 RYR1 MTM1 DNM2
8 ullrich congenital muscular dystrophy 1 32.4 SELENON PAX7 DYSF DMD
9 myopathy, tubular aggregate, 1 32.3 RYR1 MTM1 DYSF
10 rigid spine muscular dystrophy 1 31.7 SELENON RYR1 MYH7 DYSF DMD ACTA1
11 typical congenital nemaline myopathy 31.3 TPM2 NEB ACTA1
12 severe congenital nemaline myopathy 30.9 NEB ACTA1
13 congenital structural myopathy 30.8 TPM3 TPM2 SELENON RYR1 NEB MYH7
14 malignant hyperthermia susceptibility 30.7 STAC3 RYR1
15 central core myopathy 30.6 SELENON RYR1 NEB MYH7 MTM1 DNM2
16 cap myopathy 30.5 TPM3 TPM2 ACTA1
17 cytoplasmic body myopathy 30.4 DMD DES
18 centronuclear myopathy 30.3 TPM2 SELENON RYR1 NEB MTM1 HACD1
19 foot drop 30.3 NEB ACTA1
20 intermediate congenital nemaline myopathy 30.2 TPM3 NEB ACTA1
21 central core disease of muscle 30.1 SELENON RYR1 NEB DES
22 arthrogryposis, distal, type 1a 30.1 TPM2 RYR1 ACTA1
23 myopathy, centronuclear, x-linked 30.0 MTM1 DNM2
24 congenital fiber-type disproportion 30.0 TPM3 TPM2 SPTBN4 SELENON RYR1 NEB
25 childhood-onset nemaline myopathy 29.9 TPM3 TPM2 NEB ACTA1
26 myopathy, spheroid body 29.9 NEB DES
27 atrial standstill 1 29.8 MYH7 MYH6 DMD DES
28 muscular dystrophy, congenital merosin-deficient, 1a 29.7 SELENON DYSF DMD
29 myositis 29.7 RYR1 NEB DYSF DMD
30 myopathy, myofibrillar, 1 29.7 SELENON NEB DMD DES
31 respiratory failure 29.6 SELENON RYR1 MYL1 MYH7 DMD ACTA1
32 peripheral nervous system disease 29.5 RYR1 MTM1 DNM2 DMD
33 congenital myasthenic syndrome 29.4 TPM2 SELENON RYR1 MTM1 DNM2
34 restrictive cardiomyopathy 29.4 MYH7 MYH6 DMD DES ACTA1
35 ptosis 29.3 STAC3 RYR1 MTM1 DNM2 DMD
36 facioscapulohumeral muscular dystrophy 1 29.3 PAX7 MYH6 DYSF DMD
37 muscular dystrophy, congenital, lmna-related 28.9 SELENON RYR1 PAX7 MYH7 MYH6 ITGA7
38 bethlem myopathy 1 28.7 SELENON RYR1 PAX7 MYH7 ITGA7 DYSF
39 muscular dystrophy 28.7 SELENON RYR1 PAX7 NEB MYH7 ITGA7
40 distal arthrogryposis 28.7 TPM3 TPM2 RYR1 NEB MYH7 MYH6
41 malignant hyperthermia 28.6 STAC3 SELENON RYR1 MYH7 MYH6 MTM1
42 dilated cardiomyopathy 28.6 TPM3 TPM2 MYH7 MYH6 MTM1 ITGA7
43 myopathy 28.2 TPM3 TPM2 STAC3 SELENON RYR1 NEB
44 myofibrillar myopathy 28.0 SELENON NEB MYH7 MYH6 DYSF DNM2
45 neuromuscular disease 27.9 RYR1 MYH7 MYH6 MTM1 DYSF DNM2
46 myopathy, congenital, compton-north 12.4
47 myopathy, congenital, with fast-twitch fiber atrophy 12.4
48 myopathy, congenital, progressive, with scoliosis 12.4
49 myopathy, congenital, with tremor 12.4
50 benign samaritan congenital myopathy 12.3

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



Diseases related to Myopathy, Congenital

Symptoms & Phenotypes for Myopathy, Congenital

Human phenotypes related to Myopathy, Congenital:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of the nervous system 31 HP:0000707
2 myopathy 31 HP:0003198

Symptoms via clinical synopsis from OMIM:

56
Muscle Soft Tissue:
congenital myopathy
amyotonia congenita
nonprogressive myopathy

Clinical features from OMIM:

255300

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.05 STAC3
2 Decreased viability GR00221-A-3 10.05 STAC3
3 Decreased viability GR00221-A-4 10.05 DYSF STAC3
4 Decreased viability GR00301-A 10.05 DYSF
5 Decreased viability GR00402-S-2 10.05 ACTA1 CNTN1 DES DMD DNM2 DYSF
6 no effect GR00402-S-1 9.62 ACTA1 CNTN1 DES DMD DNM2 DYSF

MGI Mouse Phenotypes related to Myopathy, Congenital:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.33 ACTA1 CNTN1 DES DMD DYSF ITGA7
2 homeostasis/metabolism MP:0005376 10.27 ACTA1 DES DMD DNM2 DYSF HACD1
3 growth/size/body region MP:0005378 10.25 ACTA1 CNTN1 DMD DNM2 HACD1 ITGA7
4 muscle MP:0005369 10.23 ACTA1 CNTN1 DES DMD DNM2 DYSF
5 mortality/aging MP:0010768 10.22 ACTA1 CNTN1 DES DMD DNM2 ITGA7
6 cellular MP:0005384 10.17 CNTN1 DES DMD DNM2 ITGA7 MTM1
7 no phenotypic analysis MP:0003012 9.7 DMD DYSF MTM1 MYH7 MYL1 PAX7
8 respiratory system MP:0005388 9.5 DMD MTM1 MYH6 PAX7 RYR1 SELENON
9 skeleton MP:0005390 9.32 ACTA1 DMD ITGA7 MTM1 MYL1 NEB

Drugs & Therapeutics for Myopathy, Congenital

Drugs for Myopathy, Congenital (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 30)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mexiletine Approved, Investigational Phase 3 31828-71-4 4178
2
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
3
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
4 Sodium Channel Blockers Phase 3
5 Diuretics, Potassium Sparing Phase 3
6 Tranquilizing Agents Phase 3
7 Antipsychotic Agents Phase 3
8 Psychotropic Drugs Phase 3
9 Anticonvulsants Phase 3
10 Calcium, Dietary Phase 3
11 calcium channel blockers Phase 3
12 Central Nervous System Depressants Phase 3
13 Hormones Phase 3
14
Lidocaine Approved, Vet_approved Phase 2 137-58-6 3676
15
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
16 Anti-Infective Agents Phase 1, Phase 2
17 Respiratory System Agents Phase 1, Phase 2
18 N-monoacetylcystine Phase 1, Phase 2
19 Free Radical Scavengers Phase 1, Phase 2
20 Antioxidants Phase 1, Phase 2
21 Antiviral Agents Phase 1, Phase 2
22 Protective Agents Phase 1, Phase 2
23 Antidotes Phase 1, Phase 2
24 Expectorants Phase 1, Phase 2
25
Ranolazine Approved, Investigational Phase 1 95635-55-5, 142387-99-3 56959
26
Adenosine Approved, Investigational 58-61-7 60961
27 Anti-Arrhythmia Agents
28 Analgesics
29 Neurotransmitter Agents
30 Vasodilator Agents

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 Efficacy and Safety of Mexiletine in Non-dystrophic Myotonias Completed NCT02336477 Phase 3 Mexiletine;placebo
2 Lamotrigine as Treatment of Myotonia - a Phase 3 Randomized Controlled Trial Study Completed NCT01939561 Phase 3 Lamotrigine;Placebo
3 Combining N-of-1 Trials to Estimate Population Clinical and Cost-effectiveness of Drugs Using Bayesian Hierarchical Modeling. The Case of Mexiletine for Patients With Non- Dystrophic Myotonia. Completed NCT02045667 Phase 2 Mexiletine;Placebo
4 Antioxidant Therapy in RYR1-Related Congenital Myopathy Completed NCT02362425 Phase 1, Phase 2 N-acetylcysteine;Placebo
5 Open Label Trial of Ranolazine in Myotonia Congenita, Paramyotonia Congenita, & Myotonic Dystrophy Type 1 Completed NCT02251457 Phase 1 Ranolazine
6 Congenital Muscle Disease Patient and Proxy Reported Outcome Study Unknown status NCT01403402
7 Muscle Oxygenation Modification During Effort in 4 Groups of Neuromuscular Diseases Compared to Healthy Controls, and Mitochondrial Function and Phenotype Assessment Unknown status NCT02789059
8 Relations Between Fitness Status and the Severity of Myotonia in Patients With Congenital Myotonia Completed NCT02161835
9 Pulmonary Function and Neuromuscular Disease Completed NCT03445832
10 Nondystrophic Myotonias: Genotype-phenotype Correlation and Longitudinal Study Completed NCT00244413
11 Aerobic Training in Patients With Congenital Myopathies Completed NCT02020187
12 Myotubular Myopathy Genetic Testing Study Completed NCT01817946
13 Molecular Analysis of Neuromuscular Disease Recruiting NCT00272883
14 Inspiratory Muscle Training in Patients With Nemaline Myopathy Recruiting NCT03728803
15 Contractile Cross Sectional Areas and Muscle Strength in Patients With Congenital Myopathies Compared to Healthy Controls Active, not recruiting NCT03018184
16 Freeman-Sheldon Syndrome Evaluation and Diagnosis in Clinical Settings (FSS-EDICT) I: a Case-Control, Cross-Sectional Study of Baseline and Stress Physiology Parameters Not yet recruiting NCT01306994

Search NIH Clinical Center for Myopathy, Congenital

Genetic Tests for Myopathy, Congenital

Genetic tests related to Myopathy, Congenital:

# Genetic test Affiliating Genes
1 Congenital Myopathy 29

Anatomical Context for Myopathy, Congenital

MalaCards organs/tissues related to Myopathy, Congenital:

40
Skeletal Muscle, Bone, Testes, Brain, Eye, Heart, Skin

Publications for Myopathy, Congenital

Articles related to Myopathy, Congenital:

(show top 50) (show all 729)
# Title Authors PMID Year
1
Congenital myopathy--A fifty-year follow-up. 61 56
13994900 1962
2
Myotonia Congenita 6
20301529 2005
3
On amyotonia congenita. 56
18151579 1949
4
CGRP, a vasodilator neuropeptide that stimulates neuromuscular transmission and EC coupling. 54 61
19485922 2010
5
Dynamin 2 and human diseases. 54 61
20127478 2010
6
Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene. 54 61
20080402 2010
7
A RYR1 mutation associated with recessive congenital myopathy and dominant malignant hyperthermia in Asian families. 54 61
19645060 2009
8
First genomic rearrangement of the RYR1 gene associated with an atypical presentation of lethal neonatal hypotonia. 54 61
19734047 2009
9
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). 54 61
19562689 2009
10
Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms. 54 61
19336582 2009
11
Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy. 54 61
19197364 2009
12
Laminin-111 restores regenerative capacity in a mouse model for alpha7 integrin congenital myopathy. 54 61
19074617 2009
13
Genotype-phenotype correlations in ACTA1 mutations that cause congenital myopathies. 54 61
18976909 2009
14
Congenital myopathies. 54 61
17885449 2007
15
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. 54 61
17483490 2007
16
Dystrophinopathy carrier determination and detection of protein deficiencies in muscular dystrophy using lentiviral MyoD-forced myogenesis. 54 61
17303423 2007
17
Diagnosis of myotubular myopathy in the oldest known manifesting female carrier: a clinical and genetic study. 54 61
17251023 2007
18
Myogenin (Myf4) upregulation in trans-differentiating fibroblasts from a congenital myopathy with arrest of myogenesis and defects of myotube formation. 54 61
16977479 2006
19
A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy. 54 61
17008356 2006
20
Rimmed vacuoles with beta-amyloid and tau protein deposits in the muscle of children with hereditary myopathy. 54 61
16788822 2006
21
Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases. 54 61
15699387 2005
22
Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations. 54 61
15564033 2004
23
Missense mutations of ACTA1 cause dominant congenital myopathy with cores. 54 61
15520409 2004
24
Myopathies associated with myosin heavy chain mutations. 54 61
15605950 2004
25
[Respiratory system elastance and resistance measured by proportional assist ventilation in patients with respiratory muscle weakness]. 54 61
15287508 2004
26
Actin-related myopathy without any missense mutation in the ACTA1 gene. 54 61
15072110 2004
27
Central core disease: clinical, pathological, and genetic features. 54 61
14670767 2003
28
Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes. 54 61
14568816 2003
29
Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1). 54 61
12921789 2003
30
Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation. 54 61
12467733 2003
31
Altered ryanodine receptor function in central core disease: leaky or uncoupled Ca(2+) release channels? 54 61
12161072 2002
32
Overview of neuromuscular disorders affecting respiratory function. 54 61
16088611 2002
33
Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor. 54 61
11709545 2001
34
Creatine transporter and mitochondrial creatine kinase protein content in myopathies. 54 61
11317279 2001
35
Excitation--contraction uncoupling by a human central core disease mutation in the ryanodine receptor. 54 61
11274444 2001
36
Transfection of MCF-7 carcinoma cells with human integrin alpha7 cDNA promotes adhesion to laminin. 54 61
11361006 2001
37
Human bHLH transcription factor gene myogenin (MYOG): genomic sequence and negative mutation analysis in patients with severe congenital myopathies. 54 61
10329008 1999
38
Congenital myopathy with mosaic fibers and interlacing sarcomeres: a new structural myopathy. 54 61
9845295 1998
39
A severe clinical and pathological variant of central core disease with possible autosomal recessive inheritance. 54 61
9829276 1998
40
Mutations in the integrin alpha7 gene cause congenital myopathy. 54 61
9590299 1998
41
A new familial congenital myopathy in children with desmin and dystrophin reacting plaques. 54 61
7561954 1995
42
Dystrophin deficiency in a case of congenital myopathy. 54 61
1552307 1992
43
Congenital myopathy associated with abnormal accumulation of desmin and dystrophin. 54 61
1483042 1992
44
Exercise Training as Part of Musculoskeletal Management for Congenital Myopathy: Where Are We Now? 61
31926608 2020
45
Differentiating Congenital Myopathy from Congenital Muscular Dystrophy. 61
32000926 2020
46
ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy. 61
31794073 2020
47
A family with nemaline myopathy type 6 caused by hseterozygous mutation (c.1222C>T) in the KBTBD13 gene in China: A case report. 61
31828823 2020
48
Anesthesia Challenges in the Management of Freeman-Sheldon Syndrome: Report of Two Cases and Literature Review. 61
32008616 2020
49
A novel de novo ACTA1 variant in a patient with nemaline myopathy and mitochondrial Complex I deficiency. 61
32005493 2019
50
Congenital Muscular Dystrophy and Congenital Myopathy. 61
31794464 2019

Variations for Myopathy, Congenital

ClinVar genetic disease variations for Myopathy, Congenital:

6 (show all 12) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MYH7 NM_000257.4(MYH7):c.5655+5G>CSNV Pathogenic 694311 14:23883211-23883211 14:23414002-23414002
2 RYR1 NM_001042723.2(RYR1):c.4405C>T (p.Arg1469Trp)SNV Conflicting interpretations of pathogenicity 161372 rs200546266 19:38968461-38968461 19:38477821-38477821
3 RYR1 NM_000540.2(RYR1):c.11763C>A (p.Tyr3921Ter)SNV Conflicting interpretations of pathogenicity 161361 rs377178986 19:39034060-39034060 19:38543420-38543420
4 RYR1 NM_000540.2(RYR1):c.13505A>G (p.Glu4502Gly)SNV Conflicting interpretations of pathogenicity 161366 rs139647387 19:39057618-39057618 19:38566978-38566978
5 RYR1 NM_000540.2(RYR1):c.2122G>A (p.Asp708Asn)SNV Conflicting interpretations of pathogenicity 159840 rs138874610 19:38948887-38948887 19:38458247-38458247
6 RYR1 NM_000540.2(RYR1):c.9758T>C (p.Ile3253Thr)SNV Conflicting interpretations of pathogenicity 159865 rs375626634 19:39008071-39008071 19:38517431-38517431
7 MYH7 NM_000257.4(MYH7):c.452C>T (p.Pro151Leu)SNV Conflicting interpretations of pathogenicity 181305 rs730880837 14:23901898-23901898 14:23432689-23432689
8 TTN NM_001267550.2(TTN):c.63535A>G (p.Ser21179Gly)SNV Uncertain significance 689366 2:179452501-179452501 2:178587774-178587774
9 DNA2 NM_001080449.3(DNA2):c.940-1G>ASNV Uncertain significance 689377 10:70206171-70206171 10:68446414-68446414
10 RYR1 NM_000540.2(RYR1):c.14468C>T (p.Thr4823Met)SNV Uncertain significance 161378 rs148540135 19:39070725-39070725 19:38580085-38580085
11 RYR1 NM_000540.2(RYR1):c.2956C>T (p.Arg986Cys)SNV Uncertain significance 161367 rs150993059 19:38956816-38956816 19:38466176-38466176
12 RYR1 NM_000540.2(RYR1):c.2677G>A (p.Gly893Ser)SNV Benign/Likely benign 161362 rs147336515 19:38954162-38954162 19:38463522-38463522

Expression for Myopathy, Congenital

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

Pathways for Myopathy, Congenital

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

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.69 MYL1 MYH7 MYH6 ITGA7 ACTA1
2
Show member pathways
12.67 SPTBN4 MYL1 MYH7 MYH6 ITGA7 ACTA1
3
Show member pathways
12.54 TPM3 TPM2 RYR1 NEB MYL1 MYH6
4
Show member pathways
12.33 MYL1 MYH7 MYH6 ACTA1
5
Show member pathways
12.3 TPM3 TPM2 MYH7 MYH6
6
Show member pathways
12.11 MYL1 MYH7 MYH6 ACTA1
7
Show member pathways
11.8 SPTBN4 DNM2 CNTN1
8
Show member pathways
11.77 TPM3 TPM2 MYH7 MYH6 ITGA7 DMD
9 11.56 TPM3 TPM2 MYH7 MYH6
10 11.2 MYL1 MYH7 MYH6 ITGA7 ACTA1
11 11.1 TPM3 TPM2 DYSF
12 11.08 TPM3 TPM2 NEB MYL1 MYH6 DMD
13 10.79 DMD ACTA1

GO Terms for Myopathy, Congenital

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10.35 TPM3 TPM2 STAC3 SPTBN4 NEB MYL1
2 extracellular exosome GO:0070062 10.18 TPM3 SPTBN4 RYR1 NEB DYSF DNM2
3 cytoskeleton GO:0005856 10.03 TPM3 TPM2 SPTBN4 NEB DNM2 DMD
4 actin cytoskeleton GO:0015629 9.85 TPM3 TPM2 NEB ACTA1
5 lamellipodium GO:0030027 9.8 DYSF DNM2 DMD ACTA1
6 actin filament GO:0005884 9.73 TPM3 TPM2 ACTA1
7 filopodium GO:0030175 9.71 MTM1 DMD ACTA1
8 stress fiber GO:0001725 9.71 TPM3 MYH7 MYH6 ACTA1
9 myosin complex GO:0016459 9.69 MYL1 MYH7 MYH6
10 T-tubule GO:0030315 9.65 STAC3 RYR1 DYSF
11 sarcolemma GO:0042383 9.65 STAC3 RYR1 DYSF DMD DES
12 Z disc GO:0030018 9.63 RYR1 NEB MYH7 MYH6 DMD DES
13 myosin filament GO:0032982 9.57 MYH7 MYH6
14 contractile fiber GO:0043292 9.54 NEB MYL1 DES
15 muscle myosin complex GO:0005859 9.5 MYL1 MYH7 MYH6
16 muscle thin filament tropomyosin GO:0005862 9.46 TPM3 TPM2
17 myofibril GO:0030016 9.35 NEB MYL1 MYH7 MYH6 DMD
18 sarcomere GO:0030017 9.1 NEB MYL1 MYH7 MYH6 MTM1 ACTA1

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.71 PAX7 NEB ITGA7 DMD
2 regulation of heart rate GO:0002027 9.61 MYH7 MYH6 DMD
3 muscle contraction GO:0006936 9.61 TPM3 TPM2 RYR1 MYL1 MYH7 MYH6
4 regulation of the force of heart contraction GO:0002026 9.56 MYH7 MYH6
5 cardiac muscle contraction GO:0060048 9.56 MYL1 MYH7 MYH6 DMD
6 intermediate filament organization GO:0045109 9.55 MTM1 DES
7 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.54 SELENON DMD
8 skeletal muscle tissue regeneration GO:0043403 9.54 PAX7 DYSF DMD
9 striated muscle contraction GO:0006941 9.52 MYH7 MYH6
10 cardiac muscle hypertrophy in response to stress GO:0014898 9.51 MYH7 MYH6
11 muscle fiber development GO:0048747 9.5 NEB DYSF DMD
12 adult heart development GO:0007512 9.49 MYH7 MYH6
13 cellular response to caffeine GO:0071313 9.48 SELENON RYR1
14 regulation of ATPase activity GO:0043462 9.46 TPM2 MYH6
15 skeletal muscle fiber development GO:0048741 9.46 STAC3 SELENON RYR1 ACTA1
16 muscle filament sliding GO:0030049 9.28 TPM3 TPM2 NEB MYL1 MYH7 MYH6

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 9.56 SPTBN4 DMD DES ACTA1
2 actin filament binding GO:0051015 9.55 TPM3 TPM2 NEB MYH7 MYH6
3 actin binding GO:0003779 9.43 TPM3 TPM2 SPTBN4 MYH7 MYH6 DMD
4 microfilament motor activity GO:0000146 9.4 MYH7 MYH6
5 nitric-oxide synthase binding GO:0050998 9.37 DNM2 DMD
6 actin-dependent ATPase activity GO:0030898 9.32 MYH7 MYH6
7 structural constituent of muscle GO:0008307 8.92 TPM2 NEB MYL1 DMD

Sources for Myopathy, Congenital

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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