MCID: BTT016
MIFTS: 59

Batten-Turner Congenital Myopathy

Categories: Bone diseases, Muscle diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Batten-Turner Congenital Myopathy

MalaCards integrated aliases for Batten-Turner Congenital Myopathy:

Name: Batten-Turner Congenital Myopathy 57 28 5
Congenital Myopathy 11 19 52 58 75 28 5 14
Batten Turner Congenital Myopathy 11 19
Benign Congenital Myopathy 33
Myopathy, Congenital 53
Myopathy Congenital 19
Myotonia Congenita 71

Characteristics:


Inheritance:

Autosomal recessive 57

Prevelance:

Congenital Myopathy: 1-9/100000 (United States) 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 11 DOID:0080100
OMIM® 57 255300
ICD10 31 G71.2
ICD10 via Orphanet 32 G71.2
UMLS via Orphanet 72 C0027127 C0270960
Orphanet 58 ORPHA97245
MedGen 40 C0027127
SNOMED-CT via HPO 69 129565002 88425004
UMLS 71 C0027127

Summaries for Batten-Turner Congenital Myopathy

NINDS: 52 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 king-denborough syndrome. 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 DREAM Repression and Dynorphin Expression. The drugs Lamotrigine and Mexiletine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, eye and brain, and related phenotypes are myopathy and abnormality of the nervous system

Disease Ontology: 11 A myopathy that is characterized by the lack of muscle tone or floppiness at birth.

Wikipedia: 75 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 327)
# Related Disease Score Top Affiliating Genes
1 myopathy, congenital, bailey-bloch 32.5 SELENON RYR1
2 king-denborough syndrome 32.4 SELENON RYR1 MTM1
3 muscular dystrophy, becker type 32.3 TTN DYSF DMD
4 cylindrical spirals myopathy 32.3 PYGM DMD
5 minicore myopathy with external ophthalmoplegia 32.2 TTN RYR1
6 central core disease of muscle 32.0 SELENON RYR1 NEB MTM1 GAA DNM2
7 congenital fiber-type disproportion 32.0 TTN SELENON SCN4A RYR1 NEB MYH7
8 myopathy, centronuclear, 2 32.0 TTN RYR1 MTM1 DYSF DNM2
9 multiminicore disease 32.0 TTN-AS1 TTN SELENON RYR1 NEB MYH7
10 myopathy, centronuclear, 1 31.9 TTN SELENON RYR1 MYH7 MTM1 DYSF
11 myopathy, centronuclear, x-linked 31.7 TTN RYR1 NEB MTM1 DYSF DNM2
12 hyaline body myopathy 31.6 TTN SELENON RYR1 NEB MYH7 MYH6
13 ullrich congenital muscular dystrophy 1 31.6 SELENON RYR1 MYOG ITGA7 DYSF DMD
14 centronuclear myopathy 31.3 TTN-AS1 TTN SELENON RYR1 NEB MYH7
15 myopathy, congenital, with fiber-type disproportion 31.0 SELENON RYR1 MYH7 ACTA1
16 respiratory failure 30.8 TTN SELENON RYR1 MYH7 GAA DMD
17 scoliosis 30.8 TTN-AS1 TTN SELENON RYR1 DMD
18 ptosis 30.7 TTN SCN4A RYR1 MTM1 DNM2 DMD
19 malignant hyperthermia 30.6 SELENON SCN4A RYR1 PYGM MYH7 MYH6
20 muscular atrophy 30.6 TTN RYR1 PYGM MTM1 DMD CHKB
21 myotonia 30.5 SCN4A DMD CLCN1
22 hyperkalemic periodic paralysis 30.5 SCN4A RYR1 PYGM CLCN1
23 myopathy 30.5 TTN-AS1 TTN SELENON SCN4A RYR1 PYGM
24 distal arthrogryposis 30.4 TTN SELENON SCN4A RYR1 NEB MYH7
25 foot drop 30.3 TTN ACTA1
26 glycogen storage disease v 30.2 RYR1 PYGM GAA CHKB
27 muscular dystrophy, duchenne type 30.2 TTN ITGA7 DYSF DMD DES CHKB
28 mitral valve insufficiency 30.2 TTN MYH7 MYH6
29 autosomal recessive limb-girdle muscular dystrophy type 2a 30.2 TTN DYSF DMD
30 rigid spine muscular dystrophy 1 30.1 TTN SELENON RYR1 NEB MYH7 GAA
31 muscular dystrophy, congenital, lmna-related 30.1 TTN-AS1 TTN SELENON RYR1 MYOG MYH7
32 cardiomyopathy, dilated, 1h 30.1 TTN-AS1 TTN DES
33 wolff-parkinson-white syndrome 30.1 TTN-AS1 TTN MYH7 MYH6
34 muscular dystrophy-dystroglycanopathy , type c, 5 30.1 TTN DYSF CHKB
35 fetal akinesia deformation sequence 1 30.1 SCN4A RYR1 ACTA1
36 restrictive cardiomyopathy 30.1 TTN-AS1 TTN MYH7 MYH6 DMD DES
37 muscular dystrophy 30.1 TTN-AS1 TTN SELENON RYR1 NEB MYH7
38 orthostatic intolerance 30.1 TTN-AS1 TTN MYH6
39 atrial standstill 1 30.1 MYH7 GAA DMD DES
40 hypokalemic periodic paralysis, type 1 30.0 SCN4A RYR1 PYGM DYSF CLCN1
41 facioscapulohumeral muscular dystrophy 1 30.0 TTN MYOG MYH6 GAA DYSF DMD
42 myotonic dystrophy 1 30.0 TTN RYR1 MYOG MYH7 MTM1 GAA
43 cerebral palsy 30.0 TTN-AS1 TTN DMD CLCN1
44 left ventricular noncompaction 30.0 TTN-AS1 TTN NEB MYH7 MYH6 DMD
45 myofibrillar myopathy 29.9 TTN SELENON RYR1 NEB MYH7 MYH6
46 muscular dystrophy, limb-girdle, autosomal recessive 2 29.9 TTN GAA DYSF DMD DES
47 dilated cardiomyopathy 29.9 TTN-AS1 TTN RYR1 NEB MYH7 MYH6
48 myopathy, myofibrillar, 1 29.9 TTN SELENON NEB DYSF DMD DES
49 neuromuscular disease 29.9 TTN-AS1 TTN SELENON SCN4A RYR1 NEB
50 myositis 29.9 TTN RYR1 NEB DYSF DMD CHKB

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:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myopathy 30 HP:0003198
2 abnormality of the nervous system 30 HP:0000707

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Muscle Soft Tissue:
congenital myopathy
amyotonia congenita
nonprogressive myopathy

Clinical features from OMIM®:

255300 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Batten-Turner Congenital Myopathy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 10.41 ACTA1 CHKB CLCN1 DES DMD DNM2
2 homeostasis/metabolism MP:0005376 10.38 ACTA1 CHKB CLCN1 DES DMD DNM2
3 growth/size/body region MP:0005378 10.21 ACTA1 CLCN1 DMD DNM2 GAA ITGA7
4 behavior/neurological MP:0005386 10.21 ACTA1 CHKB CLCN1 DES DMD DNM2
5 cellular MP:0005384 10.1 DES DMD DNM2 DYSF GAA ITGA7
6 skeleton MP:0005390 9.73 ACTA1 CHKB CLCN1 DMD GAA ITGA7
7 respiratory system MP:0005388 9.7 DMD MTM1 MYH6 MYOG RYR1 SCN4A
8 mortality/aging MP:0010768 9.47 ACTA1 CLCN1 DES DMD DNM2 ITGA7

Drugs & Therapeutics for Batten-Turner Congenital Myopathy

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

(show all 30)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
2
Mexiletine Approved, Investigational Phase 3 5370-01-4, 31828-71-4 4178
3 Sodium Channel Blockers Phase 3
4 Diuretics, Potassium Sparing Phase 3
5 Hormones Phase 3
6 Antipsychotic Agents Phase 3
7 Psychotropic Drugs Phase 3
8 Calcium, Dietary Phase 3
9 Anticonvulsants Phase 3
10 calcium channel blockers Phase 3
11 Anti-Arrhythmia Agents Phase 3
12
Calcium Nutraceutical Phase 3 7440-70-2 271
13
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 581 12035
14 Antiviral Agents Phase 1, Phase 2
15 Anti-Infective Agents Phase 1, Phase 2
16 Expectorants Phase 1, Phase 2
17 Antidotes Phase 1, Phase 2
18 N-monoacetylcystine Phase 1, Phase 2
19 Antioxidants Phase 1, Phase 2
20 Protective Agents Phase 1, Phase 2
21
Ranolazine Approved, Investigational Phase 1 142387-99-3, 95635-55-5 56959
22
Salbutamol Approved, Vet_approved 18559-94-9 2083
23 Respiratory System Agents
24 Bronchodilator Agents
25 Neurotransmitter Agents
26 Adrenergic beta-Agonists
27 Adrenergic Agonists
28 Adrenergic Agents
29 Anti-Asthmatic Agents
30 Tocolytic Agents

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 Lamotrigine as Treatment of Myotonia - a Phase 3 Randomized Controlled Trial Study Completed NCT01939561 Phase 3 Lamotrigine;Placebo
2 Efficacy and Safety of Mexiletine in Non-dystrophic Myotonias Completed NCT02336477 Phase 3 Mexiletine;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 Aerobic Training in Patients With Congenital Myopathies Completed NCT02020187
6 Assessing the Frequency and Experience of Bullying or Peer Victimization in Children With Muscular Dystrophy and Congenital Myopathies Completed NCT04733976
7 Nondystrophic Myotonias: Genotype-phenotype Correlation and Longitudinal Study Completed NCT00244413
8 Relations Between Fitness Status and the Severity of Myotonia in Patients With Congenital Myotonia Completed NCT02161835
9 Assessment of Safety and Acute Effects of a Knee-hip Powered Soft Exoskeleton in Patients With Neuromuscular Disorders Recruiting NCT05200702
10 Assessment of Safety and Acute Effects of a Lower-limb Powered Dermoskeleton in Patients With Neuromuscular Disorders Recruiting NCT05199246
11 Molecular Analysis of Neuromuscular Disease Recruiting NCT00272883
12 Contractile Properties of Hypertrofic Muscles in Patients With Non-Dystrophic Myotonia Recruiting NCT04799366
13 Contractile Cross Sectional Areas and Muscle Strength in Patients With Congenital Myopathies Compared to Healthy Controls Active, not recruiting NCT03018184
14 COMPIS- Congenital Myopathy Intervention Study. An Open-label, Cross Over, Randomised, Controlled Study Using Oral Salbutamol Enrolling by invitation NCT05099107 Salbutamol (as Salbutamol Sulfate) 2 Mg Oral Tablet;Salbutamol Only Product in Oral Dose Form

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 28
2 Batten-Turner Congenital Myopathy 28

Anatomical Context for Batten-Turner Congenital Myopathy

Organs/tissues related to Batten-Turner Congenital Myopathy:

MalaCards : Skeletal Muscle, Eye, Brain, Heart, Lung, Tongue, Skin

Publications for Batten-Turner Congenital Myopathy

Articles related to Batten-Turner Congenital Myopathy:

(show top 50) (show all 870)
# Title Authors PMID Year
1
Congenital myopathy--A fifty-year follow-up. 62 57
13994900 1962
2
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 5
27854218 2016
3
SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies. 5
26036855 2016
4
Novel N-terminal truncating CLCN1 mutation in severe Becker disease. 5
24920213 2014
5
A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene. 5
23739125 2013
6
Prevalence study of genetically defined skeletal muscle channelopathies in England. 5
23516313 2013
7
Double trouble in a patient with myotonia. 5
23417379 2013
8
CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel. 5
24349310 2013
9
New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics. 5
23152584 2012
10
A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1. 5
22649220 2012
11
Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene. 5
22094069 2012
12
Refined exercise testing can aid DNA-based diagnosis in muscle channelopathies. 5
21387378 2011
13
Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians. 5
18337100 2009
14
High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany. 5
18807109 2008
15
Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions. 5
17932099 2007
16
Myotonia Congenita 5
20301529 2005
17
Decrement of compound muscle action potential is related to mutation type in myotonia congenita. 5
12661046 2003
18
Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia. 5
11840191 2001
19
Fast and slow gating of CLC-1: differential effects of 2-(4-chlorophenoxy) propionic acid and dominant negative mutations. 5
11408615 2001
20
Founder mutations and the high prevalence of myotonia congenita in northern Finland. 5
10430417 1999
21
ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence. 5
9736777 1998
22
Identification of functionally important regions of the muscular chloride channel CIC-1 by analysis of recessive and dominant myotonic mutations. 5
9158157 1997
23
Novel muscle chloride channel mutations and their effects on heterozygous carriers. 5
8571958 1996
24
Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia. 5
8533761 1995
25
Myotonia levior is a chloride channel disorder. 5
7581380 1995
26
On amyotonia congenita. 57
18151579 1949
27
CGRP, a vasodilator neuropeptide that stimulates neuromuscular transmission and EC coupling. 53 62
19485922 2010
28
Dynamin 2 and human diseases. 53 62
20127478 2010
29
Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene. 53 62
20080402 2010
30
First genomic rearrangement of the RYR1 gene associated with an atypical presentation of lethal neonatal hypotonia. 53 62
19734047 2009
31
A RYR1 mutation associated with recessive congenital myopathy and dominant malignant hyperthermia in Asian families. 53 62
19645060 2009
32
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). 53 62
19562689 2009
33
Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms. 53 62
19336582 2009
34
Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy. 53 62
19197364 2009
35
Genotype-phenotype correlations in ACTA1 mutations that cause congenital myopathies. 53 62
18976909 2009
36
Laminin-111 restores regenerative capacity in a mouse model for alpha7 integrin congenital myopathy. 53 62
19074617 2009
37
Congenital myopathies. 53 62
17885449 2007
38
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. 53 62
17483490 2007
39
Dystrophinopathy carrier determination and detection of protein deficiencies in muscular dystrophy using lentiviral MyoD-forced myogenesis. 53 62
17303423 2007
40
Diagnosis of myotubular myopathy in the oldest known manifesting female carrier: a clinical and genetic study. 53 62
17251023 2007
41
Myogenin (Myf4) upregulation in trans-differentiating fibroblasts from a congenital myopathy with arrest of myogenesis and defects of myotube formation. 53 62
16977479 2006
42
A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy. 53 62
17008356 2006
43
Rimmed vacuoles with beta-amyloid and tau protein deposits in the muscle of children with hereditary myopathy. 53 62
16788822 2006
44
Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases. 53 62
15699387 2005
45
Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations. 53 62
15564033 2004
46
Missense mutations of ACTA1 cause dominant congenital myopathy with cores. 53 62
15520409 2004
47
Myopathies associated with myosin heavy chain mutations. 53 62
15605950 2004
48
[Respiratory system elastance and resistance measured by proportional assist ventilation in patients with respiratory muscle weakness]. 53 62
15287508 2004
49
Actin-related myopathy without any missense mutation in the ACTA1 gene. 53 62
15072110 2004
50
Central core disease: clinical, pathological, and genetic features. 53 62
14670767 2003

Variations for Batten-Turner Congenital Myopathy

ClinVar genetic disease variations for Batten-Turner Congenital Myopathy:

5 (show top 50) (show all 117)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CLCN1 NM_000083.3(CLCN1):c.774+1G>A SNV Pathogenic
265646 rs776073429 GRCh37: 7:143020480-143020480
GRCh38: 7:143323387-143323387
2 CLCN1 NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser) SNV Pathogenic
21050 rs80356701 GRCh37: 7:143027931-143027931
GRCh38: 7:143330838-143330838
3 CLCN1 NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) SNV Pathogenic
17545 rs55960271 GRCh37: 7:143048771-143048771
GRCh38: 7:143351678-143351678
4 CLCN1 NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs) DEL Pathogenic
279778 rs768119034 GRCh37: 7:143036380-143036393
GRCh38: 7:143339287-143339300
5 CLCN1 NM_000083.3(CLCN1):c.1453A>G (p.Met485Val) SNV Pathogenic
280101 rs146457619 GRCh37: 7:143036397-143036397
GRCh38: 7:143339304-143339304
6 MYH7 NM_000257.4(MYH7):c.5655+5G>C SNV Pathogenic
694311 rs1595070689 GRCh37: 14:23883211-23883211
GRCh38: 14:23414002-23414002
7 MYH7 NM_000257.4(MYH7):c.452C>T (p.Pro151Leu) SNV Likely Pathogenic
181305 rs730880837 GRCh37: 14:23901898-23901898
GRCh38: 14:23432689-23432689
8 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
9 CLCN1 NM_000083.3(CLCN1):c.962T>A (p.Val321Glu) SNV Likely Pathogenic
646134 rs780150093 GRCh37: 7:143027973-143027973
GRCh38: 7:143330880-143330880
10 CLCN1 NM_000083.3(CLCN1):c.1393G>T (p.Val465Phe) SNV Likely Pathogenic
1202581 GRCh37: 7:143029958-143029958
GRCh38: 7:143332865-143332865
11 CLCN1 NM_000083.3(CLCN1):c.762C>G (p.Cys254Trp) SNV Likely Pathogenic
664036 rs772027125 GRCh37: 7:143020467-143020467
GRCh38: 7:143323374-143323374
12 SCN4A NM_000334.4(SCN4A):c.1333G>T (p.Val445Leu) SNV Likely Pathogenic
373945 rs121908552 GRCh37: 17:62041947-62041947
GRCh38: 17:63964587-63964587
13 CLCN1 NM_000083.3(CLCN1):c.1781G>T (p.Gly594Val) SNV Uncertain Significance
359112 rs746346988 GRCh37: 7:143039220-143039220
GRCh38: 7:143342127-143342127
14 CLCN1 NM_000083.3(CLCN1):c.215G>C (p.Arg72Thr) SNV Uncertain Significance
359093 rs886062033 GRCh37: 7:143016882-143016882
GRCh38: 7:143319789-143319789
15 CLCN1 NM_000083.3(CLCN1):c.1251+11G>T SNV Uncertain Significance
359108 rs780748786 GRCh37: 7:143029607-143029607
GRCh38: 7:143332514-143332514
16 CLCN1 NM_000083.3(CLCN1):c.562+6A>C SNV Uncertain Significance
910909 rs1245612236 GRCh37: 7:143018592-143018592
GRCh38: 7:143321499-143321499
17 LOC123956257, CLCN1 NM_000083.3(CLCN1):c.2017G>C (p.Ala673Pro) SNV Uncertain Significance
910974 rs200385034 GRCh37: 7:143042700-143042700
GRCh38: 7:143345607-143345607
18 CLCN1 NM_000083.3(CLCN1):c.563-13T>G SNV Uncertain Significance
912139 rs1802439916 GRCh37: 7:143018795-143018795
GRCh38: 7:143321702-143321702
19 CLCN1 NM_000083.3(CLCN1):c.697-9C>A SNV Uncertain Significance
912140 rs201207110 GRCh37: 7:143020393-143020393
GRCh38: 7:143323300-143323300
20 LOC123956257, CLCN1 NM_000083.3(CLCN1):c.2114C>G (p.Pro705Arg) SNV Uncertain Significance
912205 rs1803220621 GRCh37: 7:143042797-143042797
GRCh38: 7:143345704-143345704
21 FXR1 NM_005087.4(FXR1):c.247A>G (p.Lys83Glu) SNV Uncertain Significance
986379 rs1721862059 GRCh37: 3:180665701-180665701
GRCh38: 3:180947913-180947913
22 FXR1 NM_005087.4(FXR1):c.346A>G (p.Asn116Asp) SNV Uncertain Significance
986381 rs1721905984 GRCh37: 3:180666210-180666210
GRCh38: 3:180948422-180948422
23 CLCN1 NM_000083.3(CLCN1):c.2713G>A (p.Glu905Lys) SNV Uncertain Significance
359126 rs886062036 GRCh37: 7:143048804-143048804
GRCh38: 7:143351711-143351711
24 CLCN1 NM_000083.3(CLCN1):c.451G>A (p.Ala151Thr) SNV Uncertain Significance
359100 rs140726900 GRCh37: 7:143018475-143018475
GRCh38: 7:143321382-143321382
25 CLCN1 NM_000083.3(CLCN1):c.756G>A (p.Val252=) SNV Uncertain Significance
359105 rs886062034 GRCh37: 7:143020461-143020461
GRCh38: 7:143323368-143323368
26 CLCN1 NM_000083.3(CLCN1):c.2550C>T (p.Tyr850=) SNV Uncertain Significance
359125 rs775384507 GRCh37: 7:143047702-143047702
GRCh38: 7:143350609-143350609
27 CLCN1 NM_000083.3(CLCN1):c.1796+2_1796+6del MICROSAT Uncertain Significance
631998 rs1563084796 GRCh37: 7:143039232-143039236
GRCh38: 7:143342139-143342143
28 CLCN1 NM_000083.3(CLCN1):c.2192dup (p.His732fs) DUP Uncertain Significance
631999 rs1563087702 GRCh37: 7:143043251-143043252
GRCh38: 7:143346158-143346159
29 DNA2 NM_001080449.3(DNA2):c.940-1G>A SNV Uncertain Significance
689377 rs1590064469 GRCh37: 10:70206171-70206171
GRCh38: 10:68446414-68446414
30 CLCN1 NM_000083.3(CLCN1):c.157C>T (p.Arg53Cys) SNV Uncertain Significance
908062 rs767366093 GRCh37: 7:143013462-143013462
GRCh38: 7:143316369-143316369
31 CLCN1 NM_000083.3(CLCN1):c.1251+14G>A SNV Uncertain Significance
908126 rs1027351084 GRCh37: 7:143029610-143029610
GRCh38: 7:143332517-143332517
32 CLCN1 NM_000083.3(CLCN1):c.1254G>C (p.Leu418Phe) SNV Uncertain Significance
908127 rs1472138354 GRCh37: 7:143029819-143029819
GRCh38: 7:143332726-143332726
33 CLCN1 NM_000083.3(CLCN1):c.2264C>T (p.Pro755Leu) SNV Uncertain Significance
908200 rs1803241372 GRCh37: 7:143043324-143043324
GRCh38: 7:143346231-143346231
34 CLCN1 NM_000083.3(CLCN1):c.156C>T (p.Pro52=) SNV Uncertain Significance
359092 rs886062032 GRCh37: 7:143013461-143013461
GRCh38: 7:143316368-143316368
35 CLCN1 NM_000083.3(CLCN1):c.2786C>T (p.Thr929Ile) SNV Uncertain Significance
359127 rs777708543 GRCh37: 7:143048877-143048877
GRCh38: 7:143351784-143351784
36 CLCN1 NM_000083.3(CLCN1):c.1867G>A (p.Gly623Arg) SNV Uncertain Significance
359115 rs886062035 GRCh37: 7:143039535-143039535
GRCh38: 7:143342442-143342442
37 CLCN1 NM_000083.3(CLCN1):c.57C>A (p.Asp19Glu) SNV Uncertain Significance
359090 rs886062031 GRCh37: 7:143013362-143013362
GRCh38: 7:143316269-143316269
38 CLCN1 NM_000083.3(CLCN1):c.2615G>A (p.Gly872Glu) SNV Uncertain Significance
908202 rs1803406966 GRCh37: 7:143048706-143048706
GRCh38: 7:143351613-143351613
39 CLCN1 NM_000083.3(CLCN1):c.1443C>T (p.Cys481=) SNV Uncertain Significance
910075 rs781587827 GRCh37: 7:143036387-143036387
GRCh38: 7:143339294-143339294
40 CLCN1 NM_000083.3(CLCN1):c.1598C>G (p.Thr533Ser) SNV Uncertain Significance
910076 rs1316380335 GRCh37: 7:143039037-143039037
GRCh38: 7:143341944-143341944
41 CLCN1 NM_000083.3(CLCN1):c.1123G>A (p.Gly375Ser) SNV Uncertain Significance
531743 rs140536210 GRCh37: 7:143028702-143028702
GRCh38: 7:143331609-143331609
42 CLCN1 NM_000083.3(CLCN1):c.2815C>G (p.Pro939Ala) SNV Uncertain Significance
582671 rs574104250 GRCh37: 7:143048906-143048906
GRCh38: 7:143351813-143351813
43 CLCN1 NM_000083.3(CLCN1):c.1396A>C (p.Met466Leu) SNV Uncertain Significance
359110 rs776848644 GRCh37: 7:143029961-143029961
GRCh38: 7:143332868-143332868
44 CLCN1 NM_000083.3(CLCN1):c.546C>G (p.Ile182Met) SNV Uncertain Significance
910908 rs980845093 GRCh37: 7:143018570-143018570
GRCh38: 7:143321477-143321477
45 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
46 RYR1 NM_000540.3(RYR1):c.9758T>C (p.Ile3253Thr) SNV Uncertain Significance
159865 rs375626634 GRCh37: 19:39008071-39008071
GRCh38: 19:38517431-38517431
47 RYR1 NM_000540.3(RYR1):c.14468C>T (p.Thr4823Met) SNV Uncertain Significance
161378 rs148540135 GRCh37: 19:39070725-39070725
GRCh38: 19:38580085-38580085
48 RYR1 NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp) SNV Uncertain Significance
161372 rs200546266 GRCh37: 19:38968461-38968461
GRCh38: 19:38477821-38477821
49 RYR1 NM_000540.3(RYR1):c.2956C>T (p.Arg986Cys) SNV Uncertain Significance
161367 rs150993059 GRCh37: 19:38956816-38956816
GRCh38: 19:38466176-38466176
50 RYR1 NM_000540.3(RYR1):c.13505A>G (p.Glu4502Gly) SNV Likely Benign
161366 rs139647387 GRCh37: 19:39057618-39057618
GRCh38: 19:38566978-38566978

Expression for Batten-Turner Congenital Myopathy

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

Pathways for Batten-Turner Congenital Myopathy

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.34 TTN SCN4A RYR1 NEB MYH6 DYSF
2
Show member pathways
12.32 RYR1 ITGA7 DMD DES ACTA1
3 11 MYH7 MYH6 ITGA7 ACTA1
4
Show member pathways
10.97 TTN NEB MYH6 DMD DES ACTA1
5 10.6 DMD ACTA1

GO Terms for Batten-Turner Congenital Myopathy

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

# Name GO ID Score Top Affiliating Genes
1 sarcolemma GO:0042383 9.85 CLCN1 DES DMD DYSF RYR1
2 I band GO:0031674 9.73 TTN RYR1 MTM1
3 myofibril GO:0030016 9.72 MYH7 MYH6 DMD
4 sarcomere GO:0030017 9.56 NEB MYH7 MYH6 MTM1 ACTA1
5 striated muscle thin filament GO:0005865 9.54 TTN ACTA1
6 Z disc GO:0030018 9.47 TTN RYR1 NEB MYH7 MYH6 DMD
7 contractile fiber GO:0043292 9.4 NEB DES

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 skeletal muscle tissue development GO:0007519 9.99 MYOG ITGA7 DMD
2 muscle organ development GO:0007517 9.97 NEB MYOG ITGA7 DMD CHKB
3 sarcomere organization GO:0045214 9.95 MYH6 MYH7 TTN
4 regulation of heart rate GO:0002027 9.93 MYH7 MYH6 DMD
5 muscle cell cellular homeostasis GO:0046716 9.88 MTM1 GAA DMD
6 cellular response to caffeine GO:0071313 9.86 SELENON RYR1
7 skeletal muscle fiber development GO:0048741 9.86 SELENON RYR1 MYOG ACTA1
8 muscle filament sliding GO:0030049 9.85 MYH7 MYH6
9 regulation of the force of heart contraction GO:0002026 9.85 GAA MYH6 MYH7
10 glycogen catabolic process GO:0005980 9.84 PYGM GAA
11 skeletal muscle thin filament assembly GO:0030240 9.8 TTN ACTA1
12 response to muscle activity involved in regulation of muscle adaptation GO:0014873 9.73 SELENON MYOG
13 response to denervation involved in regulation of muscle adaptation GO:0014894 9.7 MYOG DMD
14 striated muscle contraction GO:0006941 9.7 GAA MYH6 MYH7 TTN
15 cardiac muscle contraction GO:0060048 9.65 TTN MYH7 MYH6 GAA DMD
16 muscle contraction GO:0006936 9.53 TTN SCN4A RYR1 MYH7 MYH6 DES

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of muscle GO:0008307 9.63 TTN NEB DMD
2 nucleotide binding GO:0000166 9.61 TTN RYR1 PYGM MYH7 MYH6 DNM2
3 actin filament binding GO:0051015 9.32 TTN NEB MYH7 MYH6 DMD

Sources for Batten-Turner Congenital Myopathy

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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