MCID: MYT023
MIFTS: 56

Myotonia Congenita

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

Aliases & Classifications for Myotonia Congenita

MalaCards integrated aliases for Myotonia Congenita:

Name: Myotonia Congenita 12 24 52 25 53 58 36 29 54 6 43 15 71
Congenital Myotonia, Autosomal Dominant Form 12 29 6
Thomsen and Becker Disease 52 58
Congenital Myotonia 25 58
Generalized Myotonia of Thomsen 71
Thomsen's Disease 12
Thomsen Disease 12

Characteristics:

Orphanet epidemiological data:

58
thomsen and becker disease
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: normal life expectancy;

GeneReviews:

24
Penetrance The majority of the autosomal dominant pathogenic variants can be associated with reduced penetrance. family members heterozygous for the same pathogenic variant may exhibit variable phenotypes ranging from absence of myotonia to severe myotonia.

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:2106
KEGG 36 H00705
ICD9CM 34 359.22
MeSH 43 D009224
NCIt 49 C84912
ICD10 via Orphanet 33 G71.1
UMLS via Orphanet 72 C0027127 C2936781
SNOMED-CT via HPO 68 274523007 3434004
UMLS 71 C0027127 C2936781

Summaries for Myotonia Congenita

Genetics Home Reference : 25 Myotonia congenita is a disorder that affects muscles used for movement (skeletal muscles). Beginning in childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. Although myotonia can affect any skeletal muscles, including muscles of the face and tongue, it occurs most often in the legs. Myotonia causes muscle stiffness that can interfere with movement. In some people the stiffness is very mild, while in other cases it may be severe enough to interfere with walking, running, and other activities of daily life. These muscle problems are particularly noticeable during movement following a period of rest. Many affected individuals find that repeated movements can temporarily alleviate their muscle stiffness, a phenomenon known as the warm-up effect. The two major types of myotonia congenita are known as Thomsen disease and Becker disease. These conditions are distinguished by the severity of their symptoms and their patterns of inheritance. Becker disease usually appears later in childhood than Thomsen disease and causes more severe muscle stiffness, particularly in males. People with Becker disease often experience temporary attacks of muscle weakness, particularly in the arms and hands, brought on by movement after periods of rest. They may also develop mild, permanent muscle weakness over time. This muscle weakness is not seen in people with Thomsen disease.

MalaCards based summary : Myotonia Congenita, also known as congenital myotonia, autosomal dominant form, is related to paramyotonia congenita of von eulenburg and myotonia, and has symptoms including muscular stiffness and lid lag. An important gene associated with Myotonia Congenita is CLCN1 (Chloride Voltage-Gated Channel 1), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. The drugs Mexiletine and Lamotrigine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, testes and tongue, and related phenotypes are emg abnormality and myotonia

Disease Ontology : 12 A muscle tissue disease that is characterised by slow muscle relaxation associated with hyperexcitation of the muscle fibres.

NIH Rare Diseases : 52 Myotonia congenita is a genetic disease characterized by the inability of the skeletal muscles to quickly relax after voluntary movements. Symptoms typically begin in childhood and vary from person to person. They may include muscle stiffness, muscle weakness, and attacks of weakness brought on by movement after rest. There are two forms of myotonia congenita: Becker disease , which is the most common and severe, generalized form; and Thomsen disease , which is a rare and milder form. Both forms are caused by mutations in the CLCN1 gene . The Becker type is inherited in an autosomal recessive manner, and the Thomsen type is inherited in an autosomal dominant manner. Treatment may include medication for muscle stiffness, such as mexiletine , carbamazepine , or phenytoin . Exercise may temporarily alleviate myotonia. People with myotonia congenita may be at increased risk for harmful side effects of anesthesia. Therefore, it is recommended that relatives of a person with the disease are tested during childhood.

NINDS : 53 Myotonia congenita is an inherited neuromuscular disorder characterized by the inability of muscles to quickly relax after a voluntary contraction.  The condition is present from early childhood, but symptoms can be mild.  Most children will be 2 or 3 years old when parents first notice their muscle stiffness, particularly in the legs, often provoked by sudden activity after rest.  The disease doesn’t cause muscle wasting; in fact, it may cause muscle enlargement.  Muscle strength is increased.  There are two forms of the disorder:  Becker-type, which is the most common form; and Thomsen’s disease, which is a rare and milder form.  The disorder is caused by mutations in a gene responsible for shutting off electrical excitation in the muscles.

KEGG : 36 Myotonia congenita is a specific inherited disorder of muscle membrane hyperexcitability caused by reduced sarcolemmal chloride conductance due to mutations in CLCN1, the gene coding for the main skeletal muscle chloride channel ClC-1. Impaired functioning of the ClC-1 leads to an increase in sarcolemmal excitability that clinically presents as delayed muscular relaxation (myotonia). Myotonia congenita may be inherited as either an autosomal dominant (Thomsen disease) or recessive trait (Becker disease). The predominant features of Thomsen disease are a painless, transient, muscle stiffness with a predilection for both the upper extremity and the facial muscles. Compared with Thomsen disease, Becker disease is more common, more insidious, and has initial symptoms that occur later in childhood. Two additional forms of myotonia congenita have been described: myotonia levior and fluctuating myotonia congenita. Like Becker and Thomsen disease, both of these conditions are associated with a defect in the ClC-1. Whether these two entities are truly distinct disorders is under debate, and some propose that they are variants of Thomsen disease.

Wikipedia : 74 Myotonia congenita, is a congenital neuromuscular channelopathy that affects skeletal muscles (muscles... more...

GeneReviews: NBK1355

Related Diseases for Myotonia Congenita

Diseases in the Myotonia Congenita family:

Myotonia Congenita, Autosomal Dominant Myotonia Congenita, Autosomal Recessive

Diseases related to Myotonia Congenita via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 100)
# Related Disease Score Top Affiliating Genes
1 paramyotonia congenita of von eulenburg 33.8 SCN4A GH-LCR
2 myotonia 33.0 SCN4A DMPK CNBP CLCN1
3 myotonic dystrophy 31.0 LOC108644431 DMPK CNBP CLCN1
4 periodic paralysis 30.7 SCN4A KCNJ2 CACNA1S
5 periodic paralyses 30.4 SCN4A KCNJ2 CACNA1S
6 myotonic dystrophy 1 30.1 DMPK CNBP CLCN1 CCT3
7 myotonic disease 30.1 SCN4A DMPK CNBP CLCN1 CCT3
8 myotonic dystrophy 2 29.8 SCN4A DMPK CNBP CLCN1 CCT3
9 neuromuscular disease 29.1 SCN4A MSTN DMPK CNBP CCT3 CACNA1S
10 muscular disease 28.8 SCN4A MSTN DMPK DCAF8 CNBP CLCN1
11 hyperkalemic periodic paralysis 28.6 SCN4A KCNJ2 GH-LCR DMPK DCAF8 CNBP
12 myotonia congenita, autosomal recessive 12.9
13 myotonia congenita, autosomal dominant 12.9
14 myotonia, potassium-aggravated 12.2
15 thomsen's myotonia 11.7
16 becker's myotonia 11.7
17 nondystrophic myotonia 11.7
18 myopathy, congenital 11.7
19 muscle hypertrophy 10.5
20 myopathy 10.5
21 normokalemic periodic paralysis 10.4 SCN4A GH-LCR
22 malignant hyperthermia 10.4
23 hypokalemic periodic paralysis, type 2 10.4 SCN4A GH-LCR
24 endomyocardial fibrosis 10.3
25 myasthenia gravis 10.3
26 hypothyroidism 10.3
27 malignant hyperthermia susceptibility 10.2 SCN4A CACNA1S
28 episodic kinesigenic dyskinesia 1 10.2
29 strabismus 10.2
30 monocular esotropia 10.2
31 mechanical strabismus 10.2
32 esotropia 10.2
33 muscular dystrophy 10.2
34 skeletal muscle disease 10.2
35 central core myopathy 10.1 DCAF8 CACNA1S
36 graves disease 1 10.1 SCN4A CACNA1S
37 episodic ataxia 10.1 SCN4A PRRT2 CACNA1S
38 x-linked hereditary ataxia 10.1 DMPK CNBP
39 sleep apnea 10.0
40 epidermolysis bullosa 10.0
41 neurotic disorder 10.0
42 myotonic cataract 10.0
43 muscular dystrophy, duchenne type 10.0
44 creatine phosphokinase, elevated serum 10.0
45 myositis 10.0
46 wolff-parkinson-white syndrome 10.0
47 schwartz-jampel syndrome, type 1 10.0
48 myxedema 10.0
49 ataxia and polyneuropathy, adult-onset 10.0
50 rippling muscle disease 2 10.0

Graphical network of the top 20 diseases related to Myotonia Congenita:



Diseases related to Myotonia Congenita

Symptoms & Phenotypes for Myotonia Congenita

Human phenotypes related to Myotonia Congenita:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 emg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0003457
2 myotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002486

UMLS symptoms related to Myotonia Congenita:


muscular stiffness, lid lag

GenomeRNAi Phenotypes related to Myotonia Congenita according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 shRNA abundance <= 50% GR00343-S 9.32 CACNA1S CLCN3 CLCN4 CLCN7 CLCNKB CNBP

MGI Mouse Phenotypes related to Myotonia Congenita:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.93 CACNA1S CLCN1 CLCN3 CLCN4 CLCN5 CLCN7
2 craniofacial MP:0005382 9.73 CACNA1S CLCN5 CLCN7 CNBP KCNJ2 MSTN
3 muscle MP:0005369 9.56 CACNA1S CLCN1 CLCN3 DMPK GLRB KCNJ2
4 skeleton MP:0005390 9.32 CACNA1S CLCN1 CLCN3 CLCN5 CLCN7 CNBP

Drugs & Therapeutics for Myotonia Congenita

Drugs for Myotonia Congenita (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
# 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 Anti-Arrhythmia Agents Phase 3
7 Hormones Phase 3
8 Anticonvulsants Phase 3
9 Antipsychotic Agents Phase 3
10 Tranquilizing Agents Phase 3
11 Psychotropic Drugs Phase 3
12 Calcium, Dietary Phase 3
13 Central Nervous System Depressants Phase 3
14 calcium channel blockers Phase 3
15
Lidocaine Approved, Vet_approved Phase 2 137-58-6 3676
16
Ranolazine Approved, Investigational Phase 1 142387-99-3, 95635-55-5 56959

Interventional clinical trials:


# 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 Open Label Trial of Ranolazine in Myotonia Congenita, Paramyotonia Congenita, & Myotonic Dystrophy Type 1 Completed NCT02251457 Phase 1 Ranolazine
5 Relations Between Fitness Status and the Severity of Myotonia in Patients With Congenital Myotonia Completed NCT02161835
6 Nondystrophic Myotonias: Genotype-phenotype Correlation and Longitudinal Study Completed NCT00244413

Search NIH Clinical Center for Myotonia Congenita

Cochrane evidence based reviews: myotonia congenita

Genetic Tests for Myotonia Congenita

Genetic tests related to Myotonia Congenita:

# Genetic test Affiliating Genes
1 Myotonia Congenita 29
2 Congenital Myotonia, Autosomal Dominant Form 29 CLCN1

Anatomical Context for Myotonia Congenita

MalaCards organs/tissues related to Myotonia Congenita:

40
Skeletal Muscle, Testes, Tongue, Brain, T Cells

Publications for Myotonia Congenita

Articles related to Myotonia Congenita:

(show top 50) (show all 472)
# Title Authors PMID Year
1
Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia. 6 24 54 61
11840191 2001
2
A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1. 6 24 61
22649220 2012
3
A "dystrophic" variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene. 61 6 24
11113225 2000
4
Decrement of compound muscle action potential is related to mutation type in myotonia congenita. 6 61 54
12661046 2003
5
A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel. 54 6 61
9122265 1997
6
Myotonia levior is a chloride channel disorder. 6 54 61
7581380 1995
7
Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia. 61 54 6
7951242 1994
8
Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen). 6 54 61
8112288 1994
9
Dosage effect of a dominant CLCN1 mutation: a novel syndrome. 24 54 61
18263754 2008
10
Functional characterization of CLCN1 mutations in Taiwanese patients with myotonia congenita via heterologous expression. 61 54 24
17097617 2006
11
Novel mutations at carboxyl terminus of CIC-1 channel in myotonia congenita. 61 54 24
16629771 2006
12
Myotonia Congenita 6 61
20301529 2005
13
Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype. 61 54 24
15162127 2004
14
Mechanism of inverted activation of ClC-1 channels caused by a novel myotonia congenita mutation. 6 61
10644771 2000
15
Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance. 61 54 24
9566422 1998
16
Identification of two mutations and a polymorphism in the chloride channel CLCN-1 in patients with Becker's generalized myotonia. 61 6
10737121 1998
17
Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita. 54 24 61
8857733 1996
18
Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia. 61 6
8533761 1995
19
Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita). 61 6
7981750 1993
20
The skeletal muscle chloride channel in dominant and recessive human myotonia. 61 6
1379744 1992
21
Heterozygous CLCN1 mutations can modulate phenotype in sodium channel myotonia. 61 24
25088311 2014
22
Truncating CLCN1 mutations in myotonia congenita: variable patterns of inheritance. 24 61
23893571 2014
23
Pathophysiologic and anesthetic considerations for patients with myotonia congenita or periodic paralyses. 61 24
23802937 2013
24
A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene. 24 61
23739125 2013
25
CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel. 24 61
24349310 2013
26
Refined exercise testing can aid DNA-based diagnosis in muscle channelopathies. 61 24
21387378 2011
27
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 6
20298421 2010
28
Myotonia congenita and myotonic dystrophy: surveillance and management. 61 24
20842486 2010
29
Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians. 6
18337100 2009
30
Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions. 24 61
17932099 2007
31
Phenotypic variability in myotonia congenita. 61 24
15786415 2005
32
Anaesthetic complications associated with myotonia congenita: case study and comparison with other myotonic disorders. 24 61
12699527 2003
33
Novel CLCN1 mutations with unique clinical and electrophysiological consequences. 61 24
12390967 2002
34
Myotonia caused by mutations in the muscle chloride channel gene CLCN1. 6
11933197 2002
35
Founder mutations and the high prevalence of myotonia congenita in northern Finland. 24 61
10430417 1999
36
Myotonia and the muscle chloride channel: dominant mutations show variable penetrance and founder effect. 61 24
8857727 1996
37
Novel muscle chloride channel mutations and their effects on heterozygous carriers. 24 54
8571958 1996
38
A recurrent 14 bp deletion in the CLCN1 gene associated with generalized myotonia (Becker). 6
7951215 1994
39
Evidence for genetic homogeneity in autosomal recessive generalised myotonia (Becker). 6
8301644 1993
40
Management of pregnancy with Thomsen's disease. 24
23806446 2013
41
Huntington disease skeletal muscle is hyperexcitable owing to chloride and potassium channel dysfunction. 24
23671115 2013
42
Novel brain expression of ClC-1 chloride channels and enrichment of CLCN1 variants in epilepsy. 24
23408874 2013
43
Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2. 24
22407275 2012
44
Mexiletine for symptoms and signs of myotonia in nondystrophic myotonia: a randomized controlled trial. 24
23032552 2012
45
Novel CLCN1 mutation in carbamazepine-responsive myotonia congenita. 61 54
20399394 2010
46
Myotonia congenita in a large consanguineous Arab family: insight into the clinical spectrum of carriers and double heterozygotes of a novel mutation in the chloride channel CLCN1 gene. 61 54
19697366 2010
47
A novel CLCN1 mutation (G1652A) causing a mild phenotype of thomsen disease. 61 54
20120005 2010
48
Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita. 54 61
19949657 2009
49
Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy. 54 61
20076800 2009
50
Extraocular muscle hypertrophy in myotonia congenita: Mutation identified in the SCN4A gene (V445M). 54 61
19840739 2009

Variations for Myotonia Congenita

ClinVar genetic disease variations for Myotonia Congenita:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CLCN1 NM_000083.3(CLCN1):c.1238T>G (p.Phe413Cys)SNV Pathogenic 17531 rs121912799 7:143029583-143029583 7:143332490-143332490
2 CLCN1 NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu)SNV Pathogenic 17532 rs80356700 7:143018934-143018934 7:143321841-143321841
3 CLCN1 NM_000083.3(CLCN1):c.1488G>T (p.Arg496Ser)SNV Pathogenic 17535 rs121912801 7:143036620-143036620 7:143339527-143339527
4 CLCN1 NM_000083.3(CLCN1):c.1439C>T (p.Pro480Leu)SNV Pathogenic 17537 rs80356694 7:143036383-143036383 7:143339290-143339290
5 CLCN1 NM_000083.3(CLCN1):c.382A>G (p.Met128Val)SNV Pathogenic 17546 rs80356699 7:143017837-143017837 7:143320744-143320744
6 CLCN1 NM_000083.3(CLCN1):c.566C>T (p.Ser189Phe)SNV Pathogenic 17548 rs121912810 7:143018811-143018811 7:143321718-143321718
7 CLCN1 CLCN1, TRP433ARGundetermined variant Pathogenic 17549
8 CLCN1 NM_000083.3(CLCN1):c.847C>T (p.Leu283Phe)SNV Pathogenic 21048 rs80356688 7:143021579-143021579 7:143324486-143324486
9 CLCN1 NM_000083.3(CLCN1):c.1412C>T (p.Ser471Phe)SNV Pathogenic 21038 rs80356693 7:143036356-143036356 7:143339263-143339263
10 CLCN1 NM_000083.3(CLCN1):c.1438C>A (p.Pro480Thr)SNV Pathogenic 21039 rs80356695 7:143036382-143036382 7:143339289-143339289
11 CLCN1 NM_000083.3(CLCN1):c.1592C>T (p.Ala531Val)SNV Pathogenic 21040 rs80356704 7:143039031-143039031 7:143341938-143341938
12 CLCN1 NM_000083.3(CLCN1):c.1667T>A (p.Ile556Asn)SNV Pathogenic 21041 rs80356697 7:143039106-143039106 7:143342013-143342013
13 CLCN1 NM_000083.3(CLCN1):c.2330del (p.Gly777fs)deletion Pathogenic 21042 rs80356707 7:143043717-143043717 7:143346624-143346624
14 CLCN1 NM_000083.3(CLCN1):c.2512_2513insCTCA (p.His838fs)insertion Pathogenic 21043 rs80356698 7:143047664-143047665 7:143350571-143350572
15 CLCN1 NM_000083.3(CLCN1):c.394A>T (p.Ser132Cys)SNV Pathogenic 21044 rs80356684 7:143017849-143017849 7:143320756-143320756
16 CLCN1 NM_000083.3(CLCN1):c.577G>A (p.Glu193Lys)SNV Pathogenic 21045 rs80356686 7:143018822-143018822 7:143321729-143321729
17 CLCN1 NM_000083.3(CLCN1):c.870C>G (p.Ile290Met)SNV Pathogenic 17539 rs80356690 7:143027881-143027881 7:143330788-143330788
18 CLCN1 NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser)SNV Pathogenic 21050 rs80356701 7:143027931-143027931 7:143330838-143330838
19 CLCN1 NM_000083.3(CLCN1):c.929C>T (p.Thr310Met)SNV Pathogenic 21051 rs80356691 7:143027940-143027940 7:143330847-143330847
20 CLCN1 NM_000083.3(CLCN1):c.937G>A (p.Ala313Thr)SNV Pathogenic 21052 rs80356692 7:143027948-143027948 7:143330855-143330855
21 CLCN1 NM_000083.3(CLCN1):c.1453A>G (p.Met485Val)SNV Pathogenic 280101 rs146457619 7:143036397-143036397 7:143339304-143339304
22 CLCN1 NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu)SNV Pathogenic 280100 rs150885084 7:143027865-143027865 7:143330772-143330772
23 CLCN1 NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs)deletion Pathogenic 279778 rs768119034 7:143036381-143036394 7:143339288-143339301
24 CLCN1 NM_000083.3(CLCN1):c.180+3A>TSNV Pathogenic 289967 rs202217420 7:143013488-143013488 7:143316395-143316395
25 CLCN1 NM_000083.3(CLCN1):c.2635C>T (p.Gln879Ter)SNV Pathogenic 374131 rs1057518917 7:143048726-143048726 7:143351633-143351633
26 CLCN1 NM_000083.3(CLCN1):c.898_899delinsTA (p.Arg300Ter)indel Pathogenic 447074 rs1554436419 7:143027909-143027910 7:143330816-143330817
27 CLCN1 NM_000083.3(CLCN1):c.1129C>T (p.Arg377Ter)SNV Pathogenic 447045 rs201714423 7:143028708-143028708 7:143331615-143331615
28 CLCN1 NM_000083.3(CLCN1):c.1261dup (p.Arg421fs)duplication Pathogenic 447048 rs763633152 7:143029826-143029826 7:143332733-143332733
29 CLCN1 NM_000083.3(CLCN1):c.1471+1G>ASNV Pathogenic 447052 rs375596425 7:143036416-143036416 7:143339323-143339323
30 CLCN1 NM_000083.3(CLCN1):c.1876C>T (p.Arg626Ter)SNV Pathogenic 447058 rs201894078 7:143039544-143039544 7:143342451-143342451
31 CLCN1 NM_000083.3(CLCN1):c.979G>A (p.Val327Ile)SNV Pathogenic 447078 rs774396430 7:143027990-143027990 7:143330897-143330897
32 CLCN1 NM_000083.3(CLCN1):c.1063G>A (p.Gly355Arg)SNV Pathogenic 447043 rs767000881 7:143028408-143028408 7:143331315-143331315
33 CLCN1 NM_000083.2(CLCN1):c.50_434-202deldeletion Pathogenic 580190 7:143013355-143018256 7:143316262-143321163
34 CLCN1 NM_000083.3(CLCN1):c.1644_1645del (p.Glu548fs)deletion Pathogenic 570543 rs1563084597 7:143039083-143039084 7:143341990-143341991
35 CLCN1 NM_000083.3(CLCN1):c.2172+1G>TSNV Pathogenic 572040 rs1273524525 7:143042856-143042856 7:143345763-143345763
36 CLCN1 NM_000083.3(CLCN1):c.2285-1G>CSNV Pathogenic 573366 rs1222525763 7:143043671-143043671 7:143346578-143346578
37 CLCN1 NM_000083.3(CLCN1):c.2518_2519del (p.Leu840fs)deletion Pathogenic 567845 rs780534566 7:143047670-143047671 7:143350577-143350578
38 CLCN1 NC_000007.13:g.(?_143042594)_(143047767_?)deldeletion Pathogenic 583787 7:143042594-143047767 7:143345501-143350674
39 CLCN1 NM_000083.3(CLCN1):c.302-1G>ASNV Pathogenic 577893 7:143017756-143017756 7:143320663-143320663
40 CLCN1 NM_000083.3(CLCN1):c.789del (p.Ser264fs)deletion Pathogenic 661869 7:143021521-143021521 7:143324428-143324428
41 CLCN1 NM_000083.3(CLCN1):c.478C>T (p.Gln160Ter)SNV Pathogenic 661766 7:143018502-143018502 7:143321409-143321409
42 CLCN1 NM_000083.3(CLCN1):c.751del (p.Ser251fs)deletion Pathogenic 657105 7:143020456-143020456 7:143323363-143323363
43 CLCN1 NM_000083.3(CLCN1):c.1784G>A (p.Trp595Ter)SNV Pathogenic 639175 7:143039223-143039223 7:143342130-143342130
44 CLCN1 NM_000083.3(CLCN1):c.1357del (p.Arg453fs)deletion Pathogenic 648711 7:143029922-143029922 7:143332829-143332829
45 CLCN1 NM_000083.3(CLCN1):c.1357dup (p.Arg453fs)duplication Pathogenic 664719 7:143029922-143029922 7:143332829-143332829
46 CLCN1 NM_000083.3(CLCN1):c.892G>A (p.Ala298Thr)SNV Pathogenic/Likely pathogenic 531747 rs764100025 7:143027903-143027903 7:143330810-143330810
47 CLCN1 NM_000083.3(CLCN1):c.1444G>A (p.Gly482Arg)SNV Pathogenic/Likely pathogenic 546108 rs746125212 7:143036388-143036388 7:143339295-143339295
48 CLCN1 NM_000083.3(CLCN1):c.2596-1G>ASNV Pathogenic/Likely pathogenic 449534 rs771721648 7:143048686-143048686 7:143351593-143351593
49 CLCN1 NM_000083.3(CLCN1):c.1179T>A (p.Tyr393Ter)SNV Pathogenic/Likely pathogenic 489334 rs1554436799 7:143029524-143029524 7:143332431-143332431
50 CLCN1 NM_000083.2(CLCN1):c.698delG (p.Gly233Alafs)deletion Pathogenic/Likely pathogenic 447069 rs1423567292 7:143020403-143020403 7:143323310-143323310

Expression for Myotonia Congenita

Search GEO for disease gene expression data for Myotonia Congenita.

Pathways for Myotonia Congenita

Pathways related to Myotonia Congenita according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.11 SCN4A CLCNKB CLCN7 CLCN5 CLCN4 CLCN3
2
Show member pathways
12.99 GLRB CLCNKB CLCN7 CLCN5 CLCN4 CLCN3
3
Show member pathways
12.22 SCN4A CLCN7 CLCN5 CLCN4 CLCN3 CLCN1
4
Show member pathways
12 GLRB CLCNKB CLCN7 CLCN5 CLCN4 CLCN3
5
Show member pathways
11.26 CLCNKB CLCN7 CLCN5 CLCN4 CLCN3 CLCN1

GO Terms for Myotonia Congenita

Cellular components related to Myotonia Congenita according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10.1 SCN4A PRRT2 KCNJ2 GLRB DMPK CLCNKB
2 plasma membrane GO:0005886 10.03 SCN4A PRRT2 KCNJ2 GLRB DMPK CLCNKB
3 integral component of plasma membrane GO:0005887 9.56 SCN4A KCNJ2 GLRB CLCNKB CLCN5 CLCN4
4 chloride channel complex GO:0034707 9.33 GLRB CLCNKB CLCN1
5 synaptic vesicle GO:0008021 8.92 PRRT2 CLCN5 CLCN4 CLCN3

Biological processes related to Myotonia Congenita according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.86 SCN4A CLCNKB CLCN7 CLCN5 CLCN4 CLCN3
2 ion transport GO:0006811 9.85 SCN4A KCNJ2 GLRB CLCNKB CLCN7 CLCN5
3 ion transmembrane transport GO:0034220 9.8 GLRB CLCNKB CLCN7 CLCN5 CLCN4 CLCN1
4 regulation of ion transmembrane transport GO:0034765 9.77 SCN4A KCNJ2 CLCNKB CLCN1 CACNA1S
5 proton transmembrane transport GO:1902600 9.61 CLCN5 CLCN4 CLCN3
6 muscle contraction GO:0006936 9.58 SCN4A CLCN1 CACNA1S
7 chloride transmembrane transport GO:1902476 9.5 GLRB CLCNKB CLCN7 CLCN5 CLCN4 CLCN3
8 chloride transport GO:0006821 9.17 GLRB CLCNKB CLCN7 CLCN5 CLCN4 CLCN3

Molecular functions related to Myotonia Congenita according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.54 SCN4A KCNJ2 CACNA1S
2 solute:proton antiporter activity GO:0015299 9.5 CLCN5 CLCN4 CLCN3
3 chloride channel activity GO:0005254 9.5 GLRB CLCNKB CLCN7 CLCN5 CLCN4 CLCN3
4 antiporter activity GO:0015297 9.46 CLCN7 CLCN5 CLCN4 CLCN3
5 chloride ion binding GO:0031404 9.43 CLCN5 CLCN4 CLCN3
6 voltage-gated chloride channel activity GO:0005247 9.1 CLCNKB CLCN7 CLCN5 CLCN4 CLCN3 CLCN1

Sources for Myotonia Congenita

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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