MCID: MYP132
MIFTS: 51

Myopathy, Congenital

Categories: Rare diseases, Muscle diseases

Aliases & Classifications for Myopathy, Congenital

MalaCards integrated aliases for Myopathy, Congenital:

Name: Myopathy, Congenital 57 55
Congenital Myopathy 12 76 53 54 37 29 6 15
Batten-Turner Congenital Myopathy 57
Batten Turner Congenital Myopathy 53
Myopathy - Congenital 54
Myopathy Congenital 53
Myotonia Congenita 73

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
myopathy, congenital:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 255300
Disease Ontology 12 DOID:0080100
MedGen 42 C0027127
KEGG 37 H01810
SNOMED-CT via HPO 69 258211005 88425004 129565002

Summaries for Myopathy, Congenital

NINDS : 54 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 nemaline myopathy and myopathy, congenital, with fiber-type disproportion. An important gene associated with Myopathy, Congenital is ACTA1 (Actin, Alpha 1, Skeletal Muscle), and among its related pathways/superpathways are Sertoli-Sertoli Cell Junction Dynamics and Cardiac conduction. The drugs Mexiletine and Lamotrigine have been mentioned in the context of this disorder. Affiliated tissues include testes, skeletal muscle and brain, and related phenotypes are abnormality of the nervous system and myopathy

Wikipedia : 76 Congenital myopathy is a very broad term for any muscle disorder present at birth. This defect primarily... more...

Description 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 54)
# Related Disease Score Top Affiliating Genes
1 nemaline myopathy 31.9 ACTA1 NEB TPM3
2 myopathy, congenital, with fiber-type disproportion 31.3 ACTA1 HACD1 MYH7 RYR1 SELENON TPM3
3 congenital structural myopathy 30.5 ACTA1 NEB RYR1 SELENON TPM3
4 centronuclear myopathy 29.9 DMD DNM2 HACD1 MTM1 RYR1
5 rigid spine muscular dystrophy 1 29.1 ACTA1 DMD MYH7 RYR1 SELENON
6 congenital fiber-type disproportion 28.5 ACTA1 DMD HACD1 ITGA7 MYH7 RYR1
7 muscular dystrophy 27.3 DMD ITGA7 NEB RYR1 SELENON
8 myopathy 23.4 ACTA1 CNTN1 DMD DNM2 HACD1 ITGA7
9 myopathy, congenital, compton-north 12.1
10 myopathy, congenital, with neuropathy and deafness 12.0
11 myopathy, congenital, with fiber-type disproportion, x-linked 11.9
12 native american myopathy 11.4
13 carey-fineman-ziter syndrome 11.0
14 costello syndrome 11.0
15 muscular dystrophy, congenital, megaconial type 11.0
16 nemaline myopathy 3 10.7
17 muscular dystrophy, congenital, due to integrin alpha-7 deficiency 10.7
18 lipodystrophy, congenital generalized, type 4 10.7
19 actin-accumulation myopathy 10.7
20 stormorken syndrome 10.7
21 cap myopathy 10.6 ACTA1 TPM3
22 multiminicore disease 10.5 RYR1 SELENON
23 typical congenital nemaline myopathy 10.5 ACTA1 NEB
24 severe congenital nemaline myopathy 10.5 ACTA1 NEB
25 foot drop 10.4 ACTA1 NEB
26 muscle disorders 10.3 RYR1 SELENON TPM3
27 myopathy, centronuclear, x-linked 10.2 DNM2 MTM1
28 intermediate congenital nemaline myopathy 10.2 ACTA1 NEB TPM3
29 childhood-onset nemaline myopathy 10.2 ACTA1 NEB TPM3
30 myopathy, centronuclear, 1 10.2 DNM2 RYR1
31 cardioneuromyopathy with hyaline masses and nemaline rods 10.2 DMD NEB
32 multiple pterygium syndrome, lethal type 10.1 NEB RYR1
33 brody myopathy 10.1 DMD RYR1
34 brachial plexus neuritis 10.1 DNM2 MTM1
35 reducing body myopathy 10.1 DMD NEB
36 central core disease of muscle 10.0 NEB RYR1 SELENON
37 muscular dystrophy, congenital, lmna-related 9.9
38 charcot-marie-tooth disease, dominant intermediate b 9.8 DNM2 MTM1 RYR1
39 scapuloperoneal myopathy 9.8 ACTA1 MYH7
40 neuromuscular disease 9.8 DMD MTM1 RYR1
41 cardiac conduction defect 9.7 MYH7 RYR1
42 ptosis 9.7 DNM2 MTM1 RYR1
43 muscular dystrophy-dystroglycanopathy , type a, 4 9.6 DMD ITGA7
44 cleft palate, isolated 9.6
45 spinal muscular atrophy, type ii 9.6
46 malignant hyperthermia 9.6
47 myotonic dystrophy 9.6
48 myotonia atrophica 9.6
49 myopathy, myofibrillar, 2 9.4 ACTA1 DMD MYH7
50 distal muscular dystrophy 9.4 DMD MYH7

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



Diseases related to Myopathy, Congenital

Symptoms & Phenotypes for Myopathy, Congenital

Symptoms via clinical synopsis from OMIM:

57
Neuro:
amyotonia congenita
nonprogressive myopathy

Muscle:
congenital myopathy


Clinical features from OMIM:

255300

Human phenotypes related to Myopathy, Congenital:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of the nervous system 32 HP:0000707
2 myopathy 32 HP:0003198

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

26 (show all 20)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.95 MTM1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 9.95 NEB
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-141 9.95 MTM1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-144 9.95 TPM3
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.95 TPM3 DNM2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.95 DNM2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 9.95 MTM1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-17 9.95 MTM1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-171 9.95 NEB
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.95 TPM3
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.95 MTM1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.95 TPM3
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-209 9.95 TPM3
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.95 TPM3 SPTBN4
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.95 NEB TPM3 DNM2 MTM1
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.95 DNM2
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-61 9.95 TPM3
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-62 9.95 SPTBN4
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.95 TPM3
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 9.95 TPM3 DNM2 SPTBN4

MGI Mouse Phenotypes related to Myopathy, Congenital:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.11 ACTA1 CNTN1 DMD DNM2 HACD1 ITGA7
2 behavior/neurological MP:0005386 10.06 ACTA1 CNTN1 DMD ITGA7 MTM1 NEB
3 homeostasis/metabolism MP:0005376 9.97 ACTA1 DMD DNM2 HACD1 ITGA7 MTM1
4 muscle MP:0005369 9.97 SPTBN4 TPM3 ACTA1 CNTN1 DMD DNM2
5 mortality/aging MP:0010768 9.96 NEB RYR1 SPTBN4 TPM3 ACTA1 CNTN1
6 skeleton MP:0005390 9.5 ACTA1 DMD ITGA7 MTM1 NEB RYR1
7 vision/eye MP:0005391 9.1 ACTA1 CNTN1 DMD DNM2 NEB SPTBN4

Drugs & Therapeutics for Myopathy, Congenital

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

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mexiletine Approved, Investigational Phase 3,Phase 2 31828-71-4 4178
2
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
3 Anti-Arrhythmia Agents Phase 3,Phase 2
4 Diuretics, Potassium Sparing Phase 3,Phase 2
5 Sodium Channel Blockers Phase 3,Phase 2
6 Anticonvulsants Phase 3
7 calcium channel blockers Phase 3
8 Calcium, Dietary Phase 3
9 Excitatory Amino Acid Antagonists Phase 3
10 Excitatory Amino Acids Phase 3
11 Neurotransmitter Agents Phase 3
12
Ranolazine Approved, Investigational Phase 2 142387-99-3, 95635-55-5 56959
13
Lidocaine Approved, Vet_approved Phase 2 137-58-6 3676
14
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
15 Antidotes Phase 1, Phase 2
16 Anti-Infective Agents Phase 1, Phase 2
17 Antioxidants Phase 1, Phase 2
18 Antiviral Agents Phase 1, Phase 2
19 Expectorants Phase 1, Phase 2
20 N-monoacetylcystine Phase 1, Phase 2
21 Protective Agents Phase 1, Phase 2
22 Respiratory System Agents Phase 1, Phase 2
23
Menthol Approved Not Applicable 2216-51-5 16666

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 Mexiletine and Non Dystrophic Myotonias Completed NCT02336477 Phase 3 Mexiletine;placebo
2 Lamotrigine as Treatment of Myotonia Completed NCT01939561 Phase 3 Lamotrigine;Placebo
3 Evaluation of a Mechanical Device During Acute Respiratory Failure in Patients With Neuromuscular Disorders Terminated NCT00839033 Phase 3
4 Study of Ranolazine in Myotonia Congenita, Paramyotonia Congenita and Myotonic Dystrophy Type 1 Completed NCT02251457 Phase 2 Ranolazine
5 Combined N-of-1 Trials Mexiletine vs Placebo in Patients With Non-Dystrophic Myotonia (NDM) Completed NCT02045667 Phase 2 Mexiletine;Placebo
6 Antioxidant Therapy in RYR1-Related Congenital Myopathy Completed NCT02362425 Phase 1, Phase 2 N-acetylcysteine;Placebo
7 Relations Between Myotonia and Fitness Completed NCT02161835 Not Applicable
8 Characteristics of Nondystrophic Myotonias Completed NCT00244413
9 Aerobic Training in Patients With Congenital Myopathies Completed NCT02020187 Not Applicable
10 Myotubular Myopathy Genetic Testing Study Completed NCT01817946
11 Molecular and Genetic Studies of Congenital Myopathies Recruiting NCT00272883
12 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402
13 Pulmonary Function and Neuromuscular Disease Recruiting NCT03445832
14 Contractile Cross Sectional Areas and Muscle Strength in Patients With Inherited Muscle Diseases Recruiting NCT03018184
15 Muscle Oxygenation in Effort in Neuromuscular Diseases Recruiting NCT02789059 Not Applicable

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:

41
Testes, Skeletal Muscle, Brain, Eye, Bone, Skin

Publications for Myopathy, Congenital

Articles related to Myopathy, Congenital:

(show top 50) (show all 126)
# Title Authors Year
1
Congenital myasthenic syndrome due to DPAGT1 mutations mimicking congenital myopathy in an Irish family. ( 29356258 )
2018
2
Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction. ( 29391587 )
2018
3
Duplex signaling by CaM and Stac3 enhances Ca<sub>V</sub>1.1 function and provides insights into congenital myopathy. ( 29950399 )
2018
4
De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy. ( 29858533 )
2018
5
Congenital myopathy associated with the triadin knockout syndrome. ( 28202702 )
2017
6
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion. ( 27816943 )
2017
7
Congenital myopathy results from misregulation of a muscle Ca2+ channel by mutant Stac3. ( 28003463 )
2017
8
Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy. ( 28815944 )
2017
9
Deficiency in Kelch protein Klhl31 causes congenital myopathy in mice. ( 28872460 )
2017
10
A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness. ( 28540413 )
2017
11
Congenital myopathy due to myosin heavy chain 2 mutation presenting as chronic aspiration pneumonia in infancy. ( 28729039 )
2017
12
Congenital myopathy with &amp;quot;corona&amp;quot; fibres, selective muscle atrophy, and craniosynostosis associated with novel recessive mutations in SCN4A. ( 28262468 )
2017
13
An Overview of Congenital Myopathies. ( 27922501 )
2016
14
Expanding the spectrum of congenital myopathy linked to recessive mutations in SCN4A. ( 28003497 )
2016
15
A case of congenital myopathy (Nemaline myopathy). ( 27727847 )
2016
16
A novel MYH2 mutation in family members presenting with congenital myopathy, ophthalmoplegia and facial weakness. ( 27177998 )
2016
17
Orthognathic Surgery in Patients With Congenital Myopathies and Congenital Muscular Dystrophies: Case Series and Review of the Literature. ( 26292175 )
2016
18
Gene therapy in monogenic congenital myopathies. ( 26454198 )
2016
19
Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects. ( 27484770 )
2016
20
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy. ( 28012042 )
2016
21
A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features. ( 27726070 )
2016
22
Structural, functional and molecular dynamics analysis of the native and mutated actin to study its effect on congenital myopathy. ( 27448459 )
2016
23
Use of guidelines when planning home care of a girl with severe congenital myopathy. ( 26776543 )
2016
24
Prevalence and phenotypes of congenital myopathy due to I+-actin 1 gene mutations. ( 26172852 )
2016
25
Aerobic Training in Patients with Congenital Myopathy. ( 26751952 )
2016
26
Epigenetic changes as a common trigger of muscle weakness in congenital myopathies. ( 26019235 )
2015
27
Frequency and Phenotype of Myotubular Myopathy Amongst Danish Patients with Congenital Myopathy Older than 5 Years. ( 27858727 )
2015
28
Aberrant movement of I^-tropomyosin associated with congenital myopathy causes defective response of myosin heads and actin during the ATPase cycle. ( 25978979 )
2015
29
A rare case of congenital myopathy with excess muscle spindles: expanding the clinical spectrum of HRAS-associated neuromuscular disease. ( 26001911 )
2015
30
Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related &amp;quot;core-rod&amp;quot; congenital myopathy. ( 26403434 )
2015
31
Nocturnal respiratory failure in a child with congenital myopathy - management using average volume-assured pressure support (AVAPS). ( 26392861 )
2015
32
A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing. ( 25987458 )
2015
33
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy. ( 26700687 )
2015
34
A case of congenital myopathy masquerading as paroxysmal dyskinesia. ( 25506169 )
2014
35
Rasch analysis of the motor function measure in patients with congenital muscle dystrophy and congenital myopathy. ( 24973498 )
2014
36
RYR1-related congenital myopathy with fatigable weakness, responding to pyridostigimine. ( 24951453 )
2014
37
Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy. ( 24507666 )
2014
38
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. ( 24692096 )
2014
39
Congenital myopathy with cap-like structures and nemaline rods: case report and literature review. ( 25079567 )
2014
40
Knockdown of cathepsin D in zebrafish fertilized eggs determines congenital myopathy. ( 23464837 )
2013
41
The role of ultrasound in fetal congenital myopathy detection: a novel case of fetal-onset cap myopathy. ( 23804214 )
2013
42
Human congenital myopathy actin mutants cause myopathy and alter Z-disc structure in Drosophila flight muscle. ( 23294764 )
2013
43
Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy. ( 23800289 )
2013
44
An integrated diagnosis strategy for congenital myopathies. ( 23826317 )
2013
45
RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling. ( 23553787 )
2013
46
Fatigue in patients with spinal muscular atrophy type II and congenital myopathies: evaluation of the fatigue severity scale. ( 24214178 )
2013
47
[Structural congenital myopathies]. ( 23897157 )
2013
48
Congenital myopathy is caused by mutation of HACD1. ( 23933735 )
2013
49
Congenital myopathy with focal loss of cross-striations revisited. ( 23127960 )
2013
50
Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation. ( 22752422 )
2012

Variations for Myopathy, Congenital

ClinVar genetic disease variations for Myopathy, Congenital:

6
(show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 RYR1 NM_000540.2(RYR1): c.2122G> A (p.Asp708Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs138874610 GRCh37 Chromosome 19, 38948887: 38948887
2 RYR1 NM_000540.2(RYR1): c.2122G> A (p.Asp708Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs138874610 GRCh38 Chromosome 19, 38458247: 38458247
3 RYR1 NM_000540.2(RYR1): c.9758T> C (p.Ile3253Thr) single nucleotide variant Benign rs375626634 GRCh37 Chromosome 19, 39008071: 39008071
4 RYR1 NM_000540.2(RYR1): c.9758T> C (p.Ile3253Thr) single nucleotide variant Benign rs375626634 GRCh38 Chromosome 19, 38517431: 38517431
5 RYR1 NM_000540.2(RYR1): c.2677G> A (p.Gly893Ser) single nucleotide variant Likely benign rs147336515 GRCh37 Chromosome 19, 38954162: 38954162
6 RYR1 NM_000540.2(RYR1): c.2677G> A (p.Gly893Ser) single nucleotide variant Likely benign rs147336515 GRCh38 Chromosome 19, 38463522: 38463522
7 RYR1 NM_000540.2(RYR1): c.2956C> T (p.Arg986Cys) single nucleotide variant Uncertain significance rs150993059 GRCh37 Chromosome 19, 38956816: 38956816
8 RYR1 NM_000540.2(RYR1): c.2956C> T (p.Arg986Cys) single nucleotide variant Uncertain significance rs150993059 GRCh38 Chromosome 19, 38466176: 38466176
9 RYR1 NM_000540.2(RYR1): c.4405C> T (p.Arg1469Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs200546266 GRCh37 Chromosome 19, 38968461: 38968461
10 RYR1 NM_000540.2(RYR1): c.4405C> T (p.Arg1469Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs200546266 GRCh38 Chromosome 19, 38477821: 38477821
11 RYR1 NM_000540.2(RYR1): c.11763C> A (p.Tyr3921Ter) single nucleotide variant Likely benign rs377178986 GRCh37 Chromosome 19, 39034060: 39034060
12 RYR1 NM_000540.2(RYR1): c.11763C> A (p.Tyr3921Ter) single nucleotide variant Likely benign rs377178986 GRCh38 Chromosome 19, 38543420: 38543420
13 RYR1 NM_000540.2(RYR1): c.13505A> G (p.Glu4502Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs139647387 GRCh37 Chromosome 19, 39057618: 39057618
14 RYR1 NM_000540.2(RYR1): c.13505A> G (p.Glu4502Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs139647387 GRCh38 Chromosome 19, 38566978: 38566978
15 RYR1 NM_000540.2(RYR1): c.14468C> T (p.Thr4823Met) single nucleotide variant Uncertain significance rs148540135 GRCh37 Chromosome 19, 39070725: 39070725
16 RYR1 NM_000540.2(RYR1): c.14468C> T (p.Thr4823Met) single nucleotide variant Uncertain significance rs148540135 GRCh38 Chromosome 19, 38580085: 38580085
17 MYH7 NM_000257.3(MYH7): c.452C> T (p.Pro151Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs730880837 GRCh37 Chromosome 14, 23901898: 23901898
18 MYH7 NM_000257.3(MYH7): c.452C> T (p.Pro151Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs730880837 GRCh38 Chromosome 14, 23432689: 23432689
19 TTN NM_001267550.2(TTN): c.102956_102958delCAA (p.Thr34319del) deletion no interpretation for the single variant rs878854378 GRCh37 Chromosome 2, 179398384: 179398386
20 TTN NM_001267550.2(TTN): c.102956_102958delCAA (p.Thr34319del) deletion no interpretation for the single variant rs878854378 GRCh38 Chromosome 2, 178533657: 178533659
21 TTN NM_001267550.2(TTN): c.62722C> T (p.Arg20908Ter) single nucleotide variant Likely pathogenic rs543860009 GRCh37 Chromosome 2, 179453730: 179453730
22 TTN NM_001267550.2(TTN): c.62722C> T (p.Arg20908Ter) single nucleotide variant Likely pathogenic rs543860009 GRCh38 Chromosome 2, 178589003: 178589003
23 ACTA1 NM_001100.3(ACTA1): c.808G> C (p.Gly270Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121909525 GRCh37 Chromosome 1, 229567741: 229567741
24 ACTA1 NM_001100.3(ACTA1): c.808G> C (p.Gly270Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121909525 GRCh38 Chromosome 1, 229431994: 229431994

Expression for Myopathy, Congenital

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

Pathways for Myopathy, Congenital

GO Terms for Myopathy, Congenital

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.97 ACTA1 CNTN1 DNM2 MTM1 NEB RYR1
2 cytoskeleton GO:0005856 9.88 ACTA1 DMD DNM2 NEB SPTBN4 TPM3
3 actin cytoskeleton GO:0015629 9.65 ACTA1 NEB TPM3
4 lamellipodium GO:0030027 9.63 ACTA1 DMD DNM2
5 filopodium GO:0030175 9.5 ACTA1 DMD MTM1
6 I band GO:0031674 9.43 MTM1 RYR1
7 stress fiber GO:0001725 9.43 ACTA1 MYH7 TPM3
8 sarcomere GO:0030017 9.33 ACTA1 MYH7 NEB
9 myofibril GO:0030016 9.13 DMD MYH7 NEB
10 Z disc GO:0030018 8.92 DMD MYH7 NEB RYR1

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

# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.43 DMD ITGA7 NEB
2 regulation of heart rate GO:0002027 9.4 DMD MYH7
3 muscle cell cellular homeostasis GO:0046716 9.37 DMD MTM1
4 skeletal muscle fiber development GO:0048741 9.33 ACTA1 RYR1 SELENON
5 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.32 DMD SELENON
6 muscle contraction GO:0006936 9.26 ACTA1 MYH7 RYR1 TPM3
7 muscle filament sliding GO:0030049 9.02 ACTA1 DMD MYH7 NEB TPM3

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 9.33 ACTA1 DMD SPTBN4
2 myosin binding GO:0017022 9.32 ACTA1 DMD
3 nitric-oxide synthase binding GO:0050998 9.26 DMD DNM2
4 structural constituent of muscle GO:0008307 9.13 DMD NEB TPM3
5 actin binding GO:0003779 9.02 DMD MYH7 NEB SPTBN4 TPM3
6 protein binding GO:0005515 10.15 ACTA1 CNTN1 DMD DNM2 ITGA7 MTM1

Sources for Myopathy, Congenital

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....