MCID: BTT016
MIFTS: 53

Batten-Turner Congenital Myopathy

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

Aliases & Classifications for Batten-Turner Congenital Myopathy

MalaCards integrated aliases for Batten-Turner Congenital Myopathy:

Name: Batten-Turner Congenital Myopathy 57
Congenital Myopathy 12 73 20 53 58 36 29 6 15
Batten Turner Congenital Myopathy 12 20
Myopathy - Congenital 53
Myopathy, Congenital 54
Myopathy Congenital 20
Myotonia Congenita 70

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
batten-turner congenital myopathy:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0080100
OMIM® 57 255300
KEGG 36 H01810
ICD10 32 G71.2
ICD10 via Orphanet 33 G71.2
UMLS via Orphanet 71 C0027127 C0270960
Orphanet 58 ORPHA97245
MedGen 41 C0270960
SNOMED-CT via HPO 68 129565002 258211005 88425004
UMLS 70 C0027127

Summaries for Batten-Turner Congenital Myopathy

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 : Batten-Turner Congenital Myopathy, also known as congenital myopathy, is related to myopathy, congenital, bailey-bloch and multiminicore disease. An important gene associated with Batten-Turner Congenital Myopathy is MYH7 (Myosin Heavy Chain 7), and among its related pathways/superpathways are Cardiac conduction and Dilated cardiomyopathy. The drugs Mexiletine and Lamotrigine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, eye and heart, and related phenotypes are myopathy and abnormality of the nervous system

Disease Ontology : 12 A myopathy that is characterized by the lack of muscle tone or floppiness at birth.

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 : 73 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 Batten-Turner Congenital Myopathy

Diseases related to Batten-Turner Congenital Myopathy 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 32.5 SELENON RYR1
2 multiminicore disease 32.4 TTN-AS1 TTN SELENON RYR1
3 nemaline myopathy 3 32.4 NEB ACTA1
4 congenital myopathy with cores 32.3 RYR1 ACTA1
5 central core disease of muscle 31.9 SELENON RYR1 NEB GAA DES
6 hyaline body myopathy 31.7 TTN SELENON NEB MYH7 MYH6 ACTA1
7 myopathy, centronuclear, 1 31.6 RYR1 MTM1 DYSF DNM2
8 congenital fiber-type disproportion 31.5 TTN SELENON RYR1 NEB MYH7 MYH6
9 ullrich congenital muscular dystrophy 1 31.4 SELENON MDCMP ITGA7 DYSF DMD
10 myopathy, congenital, with fiber-type disproportion 30.8 SELENON RYR1 MYH7 ACTA1
11 centronuclear myopathy 30.8 TTN-AS1 TTN SELENON RYR1 NEB MTM1
12 central core myopathy 30.6 SELENON RYR1 NEB
13 scoliosis 30.6 TTN-AS1 TTN SELENON RYR1 DMD
14 malignant hyperthermia 30.5 SELENON RYR1 PYGM MYH7 MYH6 DMD
15 ptosis 30.5 RYR1 PYGM MTM1 DNM2 DMD
16 distal arthrogryposis 30.3 TTN RYR1 NEB MYH6 ACTA1
17 typical congenital nemaline myopathy 30.2 NEB ACTA1
18 respiratory failure 30.1 TTN-AS1 TTN SELENON RYR1 MYH7 MTM1
19 mitral valve insufficiency 30.1 TTN MYH7 MYH6
20 cytoplasmic body myopathy 30.1 DMD DES
21 myopathy, myofibrillar, 5 30.0 TTN SELENON DMD
22 glycogen storage disease v 30.0 RYR1 PYGM GAA CHKB
23 reducing body myopathy 30.0 TTN NEB DNAH8 DMD DES
24 myopathy, centronuclear, x-linked 30.0 TTN RYR1 MTM1 DNM2
25 wolff-parkinson-white syndrome 30.0 TTN-AS1 TTN MYH7 MYH6
26 cardiomyopathy, dilated, 1h 30.0 TTN-AS1 TTN DES
27 foot drop 30.0 TTN NEB DYSF ACTA1
28 multiple pterygium syndrome, escobar variant 29.9 RYR1 NEB MTM1 DMD
29 atrial standstill 1 29.8 TTN-AS1 TTN MYH7 MYH6 GAA DMD
30 myopathy, myofibrillar, 1 29.8 TTN SELENON NEB DMD DES
31 muscular dystrophy, congenital, lmna-related 29.7 TTN-AS1 TTN SELENON RYR1 MYOG MYH7
32 rigid spine muscular dystrophy 1 29.6 TTN SELENON RYR1 MYH7 MDCMP GAA
33 muscular dystrophy, limb-girdle, autosomal recessive 2 29.6 TTN GAA DYSF DMD DES
34 myositis 29.6 TTN RYR1 NEB DYSF DMD CHKB
35 restrictive cardiomyopathy 29.5 TTN-AS1 TTN MYH7 MYH6 DNAH8 DMD
36 myopathy 29.3 TTN-AS1 TTN SELENON RYR1 PYGM NEB
37 congenital myasthenic syndrome 29.2 TTN SELENON RYR1 MYH7 MYH6 MTM1
38 muscular dystrophy 29.2 TTN-AS1 TTN SELENON RYR1 NEB MYH7
39 dilated cardiomyopathy 29.0 TTN-AS1 TTN MYH7 MYH6 MTM1 ITGA7
40 myofibrillar myopathy 28.9 TTN-AS1 TTN SELENON NEB MYH7 MYH6
41 neuromuscular disease 28.8 TTN-AS1 TTN SELENON RYR1 NEB MYOG
42 myopathy, congenital, with fast-twitch fiber atrophy 11.5
43 myopathy, congenital, with structured cores and z-line abnormalities 11.4
44 stac3 disorder 11.4
45 myopathy, congenital, compton-north 11.4
46 costello syndrome 11.3
47 myopathy, congenital proximal, with minicore lesions 11.3
48 cap myopathy 11.3
49 actin-accumulation myopathy 11.2
50 myopathy, areflexia, respiratory distress, and dysphagia, early-onset 11.1

Graphical network of the top 20 diseases related to Batten-Turner Congenital Myopathy:



Diseases related to Batten-Turner Congenital Myopathy

Symptoms & Phenotypes for Batten-Turner Congenital Myopathy

Human phenotypes related to Batten-Turner Congenital Myopathy:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Muscle Soft Tissue:
congenital myopathy
amyotonia congenita
nonprogressive myopathy

Clinical features from OMIM®:

255300 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Batten-Turner Congenital Myopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.27 ACTA1 CHKB DES DMD DNM2 DYSF
2 homeostasis/metabolism MP:0005376 10.09 ACTA1 CHKB DES DMD DNM2 DYSF
3 cellular MP:0005384 10.03 DES DMD DNAH8 DNM2 GAA ITGA7
4 cardiovascular system MP:0005385 10.02 DES DMD DNM2 GAA ITGA7 MTM1
5 muscle MP:0005369 9.89 ACTA1 CHKB DES DMD DNM2 DYSF
6 skeleton MP:0005390 9.36 ACTA1 CHKB DMD GAA ITGA7 MTM1

Drugs & Therapeutics for Batten-Turner Congenital Myopathy

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

(show all 22)
# 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 Sodium Channel Blockers Phase 3
4 Diuretics, Potassium Sparing Phase 3
5 Anti-Arrhythmia Agents Phase 3
6 Psychotropic Drugs Phase 3
7 Anticonvulsants Phase 3
8 Antipsychotic Agents Phase 3
9 Hormones Phase 3
10 calcium channel blockers Phase 3
11 Calcium, Dietary Phase 3
12
Calcium Nutraceutical Phase 3 7440-70-2 271
13
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
14 Antidotes Phase 1, Phase 2
15 Respiratory System Agents Phase 1, Phase 2
16 Protective Agents Phase 1, Phase 2
17 Antioxidants Phase 1, Phase 2
18 Expectorants Phase 1, Phase 2
19 Antiviral Agents Phase 1, Phase 2
20 Anti-Infective Agents Phase 1, Phase 2
21 N-monoacetylcystine Phase 1, Phase 2
22
Ranolazine Approved, Investigational Phase 1 142387-99-3, 95635-55-5 56959

Interventional clinical trials:

(show all 12)
# 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 Antioxidant Therapy in RYR1-Related Congenital Myopathy Completed NCT02362425 Phase 1, Phase 2 N-acetylcysteine;Placebo
4 Open Label Trial of Ranolazine in Myotonia Congenita, Paramyotonia Congenita, & Myotonic Dystrophy Type 1 Completed NCT02251457 Phase 1 Ranolazine
5 Muscle Oxygenation Modification During Effort in 4 Groups of Neuromuscular Diseases Compared to Healthy Controls, and Mitochondrial Function and Phenotype Assessment Unknown status NCT02789059
6 Nondystrophic Myotonias: Genotype-phenotype Correlation and Longitudinal Study Completed NCT00244413
7 Relations Between Fitness Status and the Severity of Myotonia in Patients With Congenital Myotonia Completed NCT02161835
8 Aerobic Training in Patients With Congenital Myopathies Completed NCT02020187
9 Molecular Analysis of Neuromuscular Disease Recruiting NCT00272883
10 Assessing the Frequency and Experience of Bullying or Peer Victimization in Children With Muscular Dystrophy and Congenital Myopathies Recruiting NCT04733976
11 Contractile Properties of Hypertrofic Muscles in Patients With Non-Dystrophic Myotonia Recruiting NCT04799366
12 Contractile Cross Sectional Areas and Muscle Strength in Patients With Congenital Myopathies Compared to Healthy Controls Active, not recruiting NCT03018184

Search NIH Clinical Center for Batten-Turner Congenital Myopathy

Genetic Tests for Batten-Turner Congenital Myopathy

Genetic tests related to Batten-Turner Congenital Myopathy:

# Genetic test Affiliating Genes
1 Congenital Myopathy 29

Anatomical Context for Batten-Turner Congenital Myopathy

MalaCards organs/tissues related to Batten-Turner Congenital Myopathy:

40
Skeletal Muscle, Eye, Heart, Brain, Skin, Tongue

Publications for Batten-Turner Congenital Myopathy

Articles related to Batten-Turner Congenital Myopathy:

(show top 50) (show all 737)
# Title Authors PMID Year
1
Congenital myopathy--A fifty-year follow-up. 57 61
13994900 1962
2
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 6
27854218 2016
3
On amyotonia congenita. 57
18151579 1949
4
CGRP, a vasodilator neuropeptide that stimulates neuromuscular transmission and EC coupling. 61 54
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. 61 54
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. 61 54
19734047 2009
9
Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms. 61 54
19336582 2009
10
Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy. 54 61
19197364 2009
11
Laminin-111 restores regenerative capacity in a mouse model for alpha7 integrin congenital myopathy. 54 61
19074617 2009
12
Genotype-phenotype correlations in ACTA1 mutations that cause congenital myopathies. 54 61
18976909 2009
13
Congenital myopathies. 54 61
17885449 2007
14
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. 61 54
17483490 2007
15
Dystrophinopathy carrier determination and detection of protein deficiencies in muscular dystrophy using lentiviral MyoD-forced myogenesis. 54 61
17303423 2007
16
Diagnosis of myotubular myopathy in the oldest known manifesting female carrier: a clinical and genetic study. 61 54
17251023 2007
17
A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy. 54 61
17008356 2006
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
Rimmed vacuoles with beta-amyloid and tau protein deposits in the muscle of children with hereditary myopathy. 61 54
16788822 2006
20
Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases. 61 54
15699387 2005
21
Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations. 54 61
15564033 2004
22
Missense mutations of ACTA1 cause dominant congenital myopathy with cores. 54 61
15520409 2004
23
Myopathies associated with myosin heavy chain mutations. 61 54
15605950 2004
24
[Respiratory system elastance and resistance measured by proportional assist ventilation in patients with respiratory muscle weakness]. 61 54
15287508 2004
25
Actin-related myopathy without any missense mutation in the ACTA1 gene. 61 54
15072110 2004
26
Central core disease: clinical, pathological, and genetic features. 61 54
14670767 2003
27
Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes. 61 54
14568816 2003
28
Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1). 54 61
12921789 2003
29
Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation. 61 54
12467733 2003
30
Altered ryanodine receptor function in central core disease: leaky or uncoupled Ca(2+) release channels? 61 54
12161072 2002
31
Overview of neuromuscular disorders affecting respiratory function. 61 54
16088611 2002
32
Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor. 61 54
11709545 2001
33
Creatine transporter and mitochondrial creatine kinase protein content in myopathies. 61 54
11317279 2001
34
Excitation--contraction uncoupling by a human central core disease mutation in the ryanodine receptor. 61 54
11274444 2001
35
Transfection of MCF-7 carcinoma cells with human integrin alpha7 cDNA promotes adhesion to laminin. 54 61
11361006 2001
36
Human bHLH transcription factor gene myogenin (MYOG): genomic sequence and negative mutation analysis in patients with severe congenital myopathies. 54 61
10329008 1999
37
Congenital myopathy with mosaic fibers and interlacing sarcomeres: a new structural myopathy. 54 61
9845295 1998
38
A severe clinical and pathological variant of central core disease with possible autosomal recessive inheritance. 54 61
9829276 1998
39
Mutations in the integrin alpha7 gene cause congenital myopathy. 54 61
9590299 1998
40
A new familial congenital myopathy in children with desmin and dystrophin reacting plaques. 61 54
7561954 1995
41
Dystrophin deficiency in a case of congenital myopathy. 54 61
1552307 1992
42
Congenital myopathy associated with abnormal accumulation of desmin and dystrophin. 61 54
1483042 1992
43
[Genotype and phenotype analysis of neonates with neonatal encephalopathy complicated with perinatal hypoxic event]. 61
33775046 2021
44
Biallelic loss-of-function HACD1 variants are a bona fide cause of congenital myopathy. 61
33354762 2021
45
NEM6, KBTBD13-Related Congenital Myopathy: Myopathological Analysis in 18 Dutch Patients Reveals Ring Rods Fibers, Cores, Nuclear Clumps, and Granulo-Filamentous Protein Material. 61
33693846 2021
46
Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium. 61
33755597 2021
47
Whole-exome analyses of congenital muscular dystrophy and congenital myopathy patients from India reveal a wide spectrum of known and novel mutations. 61
33124102 2021
48
Making sense of missense variants in TTN-related congenital myopathies. 61
33449170 2021
49
A C. elegans genome-wide RNAi screen for altered levamisole sensitivity identifies genes required for muscle function. 61
33713125 2021
50
Congenital fiber-type disproportion presenting with type II respiratory failure after delivery: A case report. 61
33728321 2021

Variations for Batten-Turner Congenital Myopathy

ClinVar genetic disease variations for Batten-Turner Congenital Myopathy:

6 (show all 15)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MYH7 NM_000257.4(MYH7):c.5655+5G>C SNV Pathogenic 694311 rs1595070689 GRCh37: 14:23883211-23883211
GRCh38: 14:23414002-23414002
2 TTN-AS1 , TTN NM_001267550.2(TTN):c.62722C>T (p.Arg20908Ter) SNV Likely pathogenic 242424 rs543860009 GRCh37: 2:179453730-179453730
GRCh38: 2:178589003-178589003
3 MYH7 NM_000257.4(MYH7):c.452C>T (p.Pro151Leu) SNV Likely pathogenic 181305 rs730880837 GRCh37: 14:23901898-23901898
GRCh38: 14:23432689-23432689
4 FXR1 NM_005087.4(FXR1):c.247A>G (p.Lys83Glu) SNV Uncertain significance 986379 GRCh37: 3:180665701-180665701
GRCh38: 3:180947913-180947913
5 FXR1 NM_005087.4(FXR1):c.346A>G (p.Asn116Asp) SNV Uncertain significance 986381 GRCh37: 3:180666210-180666210
GRCh38: 3:180948422-180948422
6 RYR1 NM_001042723.2(RYR1):c.4405C>T (p.Arg1469Trp) SNV Uncertain significance 161372 rs200546266 GRCh37: 19:38968461-38968461
GRCh38: 19:38477821-38477821
7 RYR1 NM_000540.2(RYR1):c.2956C>T (p.Arg986Cys) SNV Uncertain significance 161367 rs150993059 GRCh37: 19:38956816-38956816
GRCh38: 19:38466176-38466176
8 RYR1 NM_000540.2(RYR1):c.9758T>C (p.Ile3253Thr) SNV Uncertain significance 159865 rs375626634 GRCh37: 19:39008071-39008071
GRCh38: 19:38517431-38517431
9 RYR1 NM_000540.2(RYR1):c.14468C>T (p.Thr4823Met) SNV Uncertain significance 161378 rs148540135 GRCh37: 19:39070725-39070725
GRCh38: 19:38580085-38580085
10 TTN-AS1 , TTN NM_001267550.2(TTN):c.63535A>G (p.Ser21179Gly) SNV Uncertain significance 689366 rs772529311 GRCh37: 2:179452501-179452501
GRCh38: 2:178587774-178587774
11 DNA2 NM_001080449.3(DNA2):c.940-1G>A SNV Uncertain significance 689377 rs1590064469 GRCh37: 10:70206171-70206171
GRCh38: 10:68446414-68446414
12 RYR1 NM_000540.2(RYR1):c.2677G>A (p.Gly893Ser) SNV Likely benign 161362 rs147336515 GRCh37: 19:38954162-38954162
GRCh38: 19:38463522-38463522
13 RYR1 NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn) SNV Likely benign 159840 rs138874610 GRCh37: 19:38948887-38948887
GRCh38: 19:38458247-38458247
14 RYR1 NM_000540.2(RYR1):c.13505A>G (p.Glu4502Gly) SNV Likely benign 161366 rs139647387 GRCh37: 19:39057618-39057618
GRCh38: 19:38566978-38566978
15 RYR1 NM_000540.2(RYR1):c.11763C>A (p.Tyr3921Ter) SNV Likely benign 161361 rs377178986 GRCh37: 19:39034060-39034060
GRCh38: 19:38543420-38543420

Expression for Batten-Turner Congenital Myopathy

Search GEO for disease gene expression data for Batten-Turner Congenital Myopathy.

Pathways for Batten-Turner Congenital Myopathy

GO Terms for Batten-Turner Congenital Myopathy

Cellular components related to Batten-Turner Congenital Myopathy according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 10.02 TTN RYR1 PYGM NEB GAA DYSF
2 sarcolemma GO:0042383 9.62 RYR1 DYSF DMD DES
3 filopodium GO:0030175 9.61 MTM1 DMD ACTA1
4 stress fiber GO:0001725 9.58 MYH7 MYH6 ACTA1
5 myosin filament GO:0032982 9.51 MYH7 MYH6
6 contractile fiber GO:0043292 9.49 NEB DES
7 muscle myosin complex GO:0005859 9.48 MYH7 MYH6
8 striated muscle thin filament GO:0005865 9.46 TTN ACTA1
9 myofibril GO:0030016 9.46 NEB MYH7 MYH6 DMD
10 I band GO:0031674 9.43 TTN RYR1 MTM1
11 sarcomere GO:0030017 9.35 NEB MYH7 MYH6 MTM1 ACTA1
12 Z disc GO:0030018 9.17 TTN RYR1 NEB MYH7 MYH6 DMD

Biological processes related to Batten-Turner Congenital Myopathy according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.73 NEB MYOG ITGA7 DMD
2 regulation of heart rate GO:0002027 9.63 MYH7 MYH6 DMD
3 skeletal muscle fiber development GO:0048741 9.62 SELENON RYR1 MYOG ACTA1
4 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.58 SELENON DMD
5 intermediate filament organization GO:0045109 9.58 MTM1 DES
6 muscle cell cellular homeostasis GO:0046716 9.58 MTM1 GAA DMD
7 muscle cell differentiation GO:0042692 9.57 MYOG DMD
8 glycogen catabolic process GO:0005980 9.56 PYGM GAA
9 striated muscle contraction GO:0006941 9.56 TTN MYH7 MYH6 GAA
10 muscle fiber development GO:0048747 9.55 NEB DMD
11 cardiac muscle contraction GO:0060048 9.55 TTN MYH7 MYH6 GAA DMD
12 cardiac muscle hypertrophy in response to stress GO:0014898 9.54 MYH7 MYH6
13 regulation of the force of heart contraction GO:0002026 9.54 MYH7 MYH6 GAA
14 adult heart development GO:0007512 9.52 MYH7 MYH6
15 response to denervation involved in regulation of muscle adaptation GO:0014894 9.51 MYOG DMD
16 muscle contraction GO:0006936 9.5 TTN RYR1 MYH7 MYH6 DYSF DES
17 cardiac muscle fiber development GO:0048739 9.49 TTN MYH6
18 skeletal muscle thin filament assembly GO:0030240 9.48 TTN ACTA1
19 muscle filament sliding GO:0030049 9.17 TTN NEB MYH7 MYH6 DMD DES

Molecular functions related to Batten-Turner Congenital Myopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.95 TTN RYR1 MYH7 MYH6 DNAH8 CHKB
2 motor activity GO:0003774 9.61 MYH7 MYH6 DNAH8
3 nucleotide binding GO:0000166 9.61 TTN RYR1 PYGM MYH7 MYH6 DNM2
4 calmodulin binding GO:0005516 9.56 TTN RYR1 MYH7 MYH6
5 structural constituent of cytoskeleton GO:0005200 9.54 DMD DES ACTA1
6 structural constituent of muscle GO:0008307 9.33 TTN NEB DMD
7 nitric-oxide synthase binding GO:0050998 9.32 DNM2 DMD
8 actin filament binding GO:0051015 9.02 TTN NEB MYH7 MYH6 DMD

Sources for Batten-Turner Congenital Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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