MCAR
MCID: MYT029
MIFTS: 41

Myotonia Congenita, Autosomal Recessive (MCAR)

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

Aliases & Classifications for Myotonia Congenita, Autosomal Recessive

MalaCards integrated aliases for Myotonia Congenita, Autosomal Recessive:

Name: Myotonia Congenita, Autosomal Recessive 56 73 39
Becker Disease 56 74 73
Myotonia Congenita, Recessive 56 13
Obscure African Cardiomyopathy 71
Becker Generalized Myotonia 71
Becker Muscular Dystrophy 71
Myotonia, Generalized 56
Generalized Myotonia 73
Myotonia Congenita 71
Mcar 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood
highly variable phenotype and severity
warm weather and alcohol are alleviating factors
affected females report aggravation of symptoms during menstrual periods and pregnancy, with alleviation after menopause
worldwide prevalence of 1/100,000
increased prevalence in northern finland (7.3/100,000)
cold temeratures exacerbate symptoms
see also autosomal dominant form , which is less common and less severe


HPO:

31
myotonia congenita, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course childhood onset


Classifications:



External Ids:

OMIM 56 255700
MeSH 43 D009224
MedGen 41 C0751360
UMLS 71 C0027127 C0751360 C0917713 more

Summaries for Myotonia Congenita, Autosomal Recessive

OMIM : 56 Autosomal recessive myotonia congenita is a nondystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. Many patients show marked hypertrophy of the lower limb muscles. Some patients show transient muscle weakness (Koch et al., 1993). Becker disease is more common and more severe than Thomsen disease. (255700)

MalaCards based summary : Myotonia Congenita, Autosomal Recessive, also known as becker disease, is related to myotonia congenita, autosomal dominant and schwartz-jampel syndrome, type 1, and has symptoms including myalgia, weakness and muscular stiffness. An important gene associated with Myotonia Congenita, Autosomal Recessive is CLCN1 (Chloride Voltage-Gated Channel 1). The drugs Carvedilol and Ramipril have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, tongue and bone, and related phenotypes are muscle weakness and myalgia

UniProtKB/Swiss-Prot : 73 Myotonia congenita, autosomal recessive: A non-dystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. Many patients show marked hypertrophy of the lower limb muscles. The autosomal recessive form (Becker disease) is more severe than the autosomal dominant one (Thomsen disease).

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

Related Diseases for Myotonia Congenita, Autosomal Recessive

Diseases in the Myotonia Congenita family:

Myotonia Congenita, Autosomal Dominant Myotonia Congenita, Autosomal Recessive

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

(show all 17)
# Related Disease Score Top Affiliating Genes
1 myotonia congenita, autosomal dominant 11.3
2 schwartz-jampel syndrome, type 1 11.2
3 malignant glioma 10.2
4 glioma 10.2
5 glial tumor 10.2
6 endomyocardial fibrosis 10.2
7 myotonia congenita 10.2
8 nondystrophic myotonia 10.2
9 myotonia 10.2
10 muscle hypertrophy 10.0
11 myotonic dystrophy 10.0
12 ocular motor apraxia 9.9
13 tetanus 9.9
14 hypothyroidism 9.9
15 myopathy 9.9
16 becker's myotonia 9.9
17 muscular disease 9.8

Comorbidity relations with Myotonia Congenita, Autosomal Recessive via Phenotypic Disease Network (PDN):


Familial Atrial Fibrillation Heart Disease

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



Diseases related to Myotonia Congenita, Autosomal Recessive

Symptoms & Phenotypes for Myotonia Congenita, Autosomal Recessive

Human phenotypes related to Myotonia Congenita, Autosomal Recessive:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 muscle weakness 31 very rare (1%) HP:0001324
2 myalgia 31 very rare (1%) HP:0003326
3 muscle stiffness 31 very rare (1%) HP:0003552
4 percussion myotonia 31 very rare (1%) HP:0010548
5 skeletal muscle hypertrophy 31 very rare (1%) HP:0003712
6 myotonia with warm-up phenomenon 31 very rare (1%) HP:0003740
7 dysphagia 31 HP:0002015
8 muscle hypertrophy of the lower extremities 31 HP:0008968
9 emg: myotonic runs 31 HP:0003730
10 lid lag on downgaze 31 HP:0025605

Symptoms via clinical synopsis from OMIM:

56
Abdomen Gastrointestinal:
dysphagia

Head And Neck Eyes:
lid lag
eyelid myotonia

Muscle Soft Tissue:
muscle stiffness
percussion myotonia
muscle hypertrophy of the lower extremities
muscle pain
myotonia (usually occurs during rapid voluntary muscle movements after a period of rest)
more
Head And Neck Mouth:
tongue myotonia

Clinical features from OMIM:

255700

UMLS symptoms related to Myotonia Congenita, Autosomal Recessive:


myalgia, weakness, muscular stiffness, lid lag

Drugs & Therapeutics for Myotonia Congenita, Autosomal Recessive

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

(show top 50) (show all 77)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
2
Ramipril Approved Phase 4 87333-19-5 5362129
3
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
4
Sodium citrate Approved, Investigational Phase 4 68-04-2
5
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
6
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
7
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
8
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
9 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
10
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
11
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
12 Adrenergic alpha-Antagonists Phase 4
13 Adrenergic Antagonists Phase 4
14 Adrenergic beta-Antagonists Phase 4
15 Antioxidants Phase 4
16 Hormones Phase 4
17 Vasodilator Agents Phase 4
18 Protective Agents Phase 4
19 Phosphodiesterase 5 Inhibitors Phase 4
20 Phosphodiesterase Inhibitors Phase 4
21 Anti-Inflammatory Agents Phase 4
22 Citrate Phase 4
23 Sildenafil Citrate Phase 4 171599-83-0
24 Autonomic Agents Phase 4
25 Methylprednisolone Acetate Phase 4
26 Hormone Antagonists Phase 4
27 Antineoplastic Agents, Hormonal Phase 4
28 glucocorticoids Phase 4
29 Antiemetics Phase 4
30 Gastrointestinal Agents Phase 4
31 Neuroprotective Agents Phase 4
32
Enalaprilat Approved Phase 3 76420-72-9 6917719
33
Enalapril Approved, Vet_approved Phase 3 75847-73-3 5362032 40466924
34
Mexiletine Approved, Investigational Phase 3 31828-71-4 4178
35
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
36
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
37 Sodium Channel Blockers Phase 3
38 Diuretics, Potassium Sparing Phase 3
39 HIV Protease Inhibitors Phase 3
40
protease inhibitors Phase 3
41 Antihypertensive Agents Phase 3
42 Calcium, Dietary Phase 3
43 calcium channel blockers Phase 3
44 Angiotensin-Converting Enzyme Inhibitors Phase 3
45 Anti-Arrhythmia Agents Phase 3
46 Tranquilizing Agents Phase 3
47 Antipsychotic Agents Phase 3
48 Psychotropic Drugs Phase 3
49 Anticonvulsants Phase 3
50 Central Nervous System Depressants Phase 3

Interventional clinical trials:

(show top 50) (show all 53)
# Name Status NCT ID Phase Drugs
1 Effects of Cardioprotective Therapy, Carvedilol vs Ramipril, in Patients Affected by Duchenne and Becker Muscular Dystrophy. Clinical Significance and Prognostic Value of Cardiac Magnetic Resonance Study. Unknown status NCT00819845 Phase 4 carvedilol;ramipril
2 Functional Muscle Ischemia and PDE5A Inhibition in Becker Muscular Dystrophy Completed NCT01070511 Phase 4 Tadalafil;Placebo
3 A Comparative Study of Strategies for Management of Duchenne Myopathy in Assiut University Children Hospital Not yet recruiting NCT03633565 Phase 4 Sildenafil (Phosphodiesterase inhibitors);Prednisolone (Steroids)
4 Effects of Sodium Nitrate on Blood Flow in Becker Muscular Dystrophy Unknown status NCT02147639 Phase 2, Phase 3
5 Myocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy - Angiotensin-Converting-Enzyme (ACE) Inhibitor Therapy Completed NCT02432885 Phase 3 Enalapril
6 An Open-Label Study for Previously Treated Ataluren (PTC124) Patients With Nonsense Mutation Dystrophinopathy Completed NCT01557400 Phase 3 Ataluren
7 A Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Completed NCT02090959 Phase 3 Ataluren
8 Efficacy and Safety of Mexiletine in Non-dystrophic Myotonias Completed NCT02336477 Phase 3 Mexiletine;placebo
9 A Phase 3 Efficacy and Safety Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Completed NCT01826487 Phase 3 Ataluren;Placebo
10 Lamotrigine as Treatment of Myotonia - a Phase 3 Randomized Controlled Trial Study Completed NCT01939561 Phase 3 Lamotrigine;Placebo
11 A Phase 3, Randomized, Double-blind, Placebo-controlled Efficacy and Safety Study of Ataluren in Patients With Nonsense Mutation Duchenne Muscular Dystrophy and Open-Label Extension Recruiting NCT03179631 Phase 3 Ataluren;PLACEBO
12 An Open-Label, Safety Study for Previously Treated Ataluren (PTC124) Patients With Nonsense Mutation Dystrophinopathy Enrolling by invitation NCT01247207 Phase 3 Ataluren
13 A Phase 2b Extension Study of Ataluren (PTC124) in Subjects With Nonsense-Mutation-Mediated Duchenne and Becker Muscular Dystrophy Terminated NCT00847379 Phase 2, Phase 3 Ataluren (PTC124)
14 An Open-label, Un-controlled, Single-centre Trial Investigating the Efficacy and Safety of CRD007 in Children With Duchenne Muscular Dystrophy (DMD) or Becker Muscular Dystrophy (BMD) or Children Being Symptomatic Carriers for DMD or BMD Completed NCT01540604 Phase 2 CRD007
15 An Open-label Pilot Study of Purified Tea-derived Epicatechin to Improve Mitochondrial Function, Strength and Skeletal Muscle Exercise Response in Becker Muscular Dystrophy. Completed NCT01856868 Phase 1, Phase 2 (-)-epicatechin
16 UCD0115B: An Open-label Extension Study of Purified Epicatechin to Improve Mitochondrial Function, Strength and Skeletal Muscle Exercise Response in Becker Muscular Dystrophy Completed NCT03236662 Phase 2 (-)-Epicatechin
17 Study Evaluating MYO-029 in Adult Muscular Dystrophy Completed NCT00104078 Phase 1, Phase 2 MYO-029
18 A Phase 2b Efficacy and Safety Study of PTC124 in Subjects With Nonsense-Mutation-Mediated Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Completed NCT00592553 Phase 2 PTC124 High Dose;PTC124 Low Dose;Placebo
19 Pilot Study to Assess the Efficacy of L-Citrulline and Metformin in Adults With Becker's Muscular Dystrophy Completed NCT02018731 Phase 2 Metformin and Metformin & L-Citrulline;L-Citrulline and Metformin & L-Citrulline
20 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
21 Does Modulation of the nNOS System in Patients With Muscular Dystrophy and Defect nNOS Signalling Affect Cardiac, Muscular or Cognitive Function? Completed NCT01350154 Phase 2 Sildenafil;Placebo
22 A Randomised, Double Blind, Placebo Controlled Study to Evaluate the Micro-macroscopic Effects on Muscles, the Safety and Tolerability, and the Efficacy of Givinostat in Patients With Becker Muscular Dystrophy (BMD) Recruiting NCT03238235 Phase 2 givinostat;placebo
23 Open Label Safety and Efficacy of Once Weekly Steroid in Patients With LGMD and Becker Muscular Dystrophy Enrolling by invitation NCT04054375 Phase 2 Prednisone
24 A Phase 2a Study of Ataluren (PTC124) in Nonambulatory Patients With Nonsense-Mutation-Mediated Duchenne/Becker Muscular Dystrophy Terminated NCT01009294 Phase 2 Ataluren (PTC124)
25 Phase 2 Clinical Trial of Sildenafil for Cardiac Dysfunction in Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Terminated NCT01168908 Phase 2 Sildenafil
26 Sodium Nitrate for Muscular Dystrophy Unknown status NCT02434627 Phase 1 Sodium Nitrate
27 Sodium Nitrate to Improve Blood Flow Completed NCT02847975 Phase 1
28 Open Label Trial of Ranolazine in Myotonia Congenita, Paramyotonia Congenita, & Myotonic Dystrophy Type 1 Completed NCT02251457 Phase 1 Ranolazine
29 Phase I Clinical Intramuscular Gene Transfer of rAAV1.CMV.huFollistatin344 Trial to Patients With Becker Muscular Dystrophy and Sporadic Inclusion Body Myositis. Completed NCT01519349 Phase 1
30 Gentamicin Treatment of Patients With Muscular Dystrophy Due to Nonsense Mutations in Dystrophin Completed NCT00005574 Phase 1 Gentamicin
31 Efficacy and the Safety of Granulocyte Colony-stimulating Factor Treatment in Children and Adolescents With Muscular Dystrophy: An Open Study Recruiting NCT02814110 Phase 1 Granulocyte colony-stimulating factor (Filgrastim)
32 Prospective Cohort Study of Patients With Mutations in the Dystrophin Gene (X Linked Dilated Cardiomyopathy and Becker Muscular Dystrophy) Unknown status NCT02020954
33 Skeletal Muscle Blood Flow in Becker Muscular Dystrophy Unknown status NCT02653833 Early Phase 1 Tadalafil 20 MG
34 Muscle Oxygenation Modification During Effort in 4 Groups of Neuromuscular Diseases Compared to Healthy Controls, and Mitochondrial Function and Phenotype Assessment Unknown status NCT02789059
35 Muscle MRI Study of Patients With Becker Muscular Dystrophy and Limb-girdle Muscular Dystrophy Type 2I Completed NCT02165358
36 Effect of Eicosapentaenoic Fatty Acid (EPA) and Docosahexaenoic Fatty Acids (DHA) Supplementation on the Inflammation State and Metabolic Disorders in Patients With Duchenne Muscular Dystrophy or Becker Muscular Dystrophy Completed NCT01826422
37 Relations Between Fitness Status and the Severity of Myotonia in Patients With Congenital Myotonia Completed NCT02161835
38 Where Does Hope Fit In? The Relationship Between Hope, Uncertainty, and Coping Efficacy in Mothers of Children With Duchenne/Becker Muscular Dystrophy Completed NCT02194725
39 Evaluation of Limb-Girdle Muscular Dystrophy Completed NCT00893334
40 Nondystrophic Myotonias: Genotype-phenotype Correlation and Longitudinal Study Completed NCT00244413
41 Acceptance and Commitment Therapy for Muscle Disease Completed NCT02810028
42 A Registered Cohort Study on Duchenne Muscular Dystrophy Recruiting NCT04012671
43 The Duchenne Registry: An International, Patient-Report Registry for Individuals With Duchenne and Becker Muscular Dystrophy (Member of TREAT-NMD Neuromuscular Network) Recruiting NCT02069756
44 Biomarker for Duchenne Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Recruiting NCT02994030
45 Pilot Study of Cardiac Magnetic Resonance in Patients With Muscular Dystrophy Recruiting NCT02921321
46 Study of the Correlation Between Muscle Oxygenation and Motor Function in Children With Neuromuscular Disease. Recruiting NCT03471676
47 Quantification of Muscle Specific microRNAs in the Serum of Patients With Duchenne Muscular Dystrophy (DMD) and Becker (BMD) : Evaluation of the Inters-est of These Biomarkers in Patients Care Recruiting NCT02109692
48 Molecular Analysis of Nucleic Acids Derived From Patients With Neuromuscular Disease and Their Family Members Recruiting NCT00390104
49 PITT0112: Becker Muscular Dystrophy - A Natural History Study to Predict Efficacy of Exon Skipping Active, not recruiting NCT01539772
50 Cardiac Involvement in Patients With Duchenne/Becker Muscular Dystrophy Active, not recruiting NCT02470962

Search NIH Clinical Center for Myotonia Congenita, Autosomal Recessive

Genetic Tests for Myotonia Congenita, Autosomal Recessive

Anatomical Context for Myotonia Congenita, Autosomal Recessive

MalaCards organs/tissues related to Myotonia Congenita, Autosomal Recessive:

40
Skeletal Muscle, Tongue, Bone

Publications for Myotonia Congenita, Autosomal Recessive

Articles related to Myotonia Congenita, Autosomal Recessive:

(show all 43)
# Title Authors PMID Year
1
Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia. 54 56 6
7951242 1994
2
A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1. 56 6
22649220 2012
3
Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians. 56 6
18337100 2009
4
Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia. 56 6
11840191 2001
5
Evidence for genetic homogeneity in autosomal recessive generalised myotonia (Becker). 56 6
8301644 1993
6
The skeletal muscle chloride channel in dominant and recessive human myotonia. 56 6
1379744 1992
7
Myotonia Congenita 61 6
20301529 2005
8
A recurrent 14 bp deletion in the CLCN1 gene associated with generalized myotonia (Becker). 54 6
7951215 1994
9
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 6
20298421 2010
10
Cold extends electromyography distinction between ion channel mutations causing myotonia. 56
16786525 2006
11
Myotonia caused by mutations in the muscle chloride channel gene CLCN1. 6
11933197 2002
12
A "dystrophic" variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene. 6
11113225 2000
13
Mechanism of inverted activation of ClC-1 channels caused by a novel myotonia congenita mutation. 6
10644771 2000
14
Identification of two mutations and a polymorphism in the chloride channel CLCN-1 in patients with Becker's generalized myotonia. 6
10737121 1998
15
Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia. 6
8533761 1995
16
Myotonia levior is a chloride channel disorder. 6
7581380 1995
17
Primary structure and functional expression of a developmentally regulated skeletal muscle chloride channel. 56
1659664 1991
18
Inactivation of muscle chloride channel by transposon insertion in myotonic mice. 56
1659665 1991
19
Myotonia and neuromuscular transmission in the mouse. 56
1653899 1991
20
The myotonic mouse--a realistic model for the study of human recessive generalized myotonia. 56
1688667 1990
21
Malignant hyperthermia in myotonia congenita. 56
3362383 1988
22
Biological features of the new A2G--adr mouse mutant with abnormal muscle function. 56
10628777 1984
23
Autosomal recessive generalized myotonia. 56
6855798 1983
24
Heterozygote manifestation in recessive generalized myotonia. 56
437775 1979
25
Recessively inherited myotonia congenita. 56
5046632 1972
26
Myotonia congenita. A review of four cases. 56
5469190 1970
27
Electromyographic Features in a Chinese Cohort With Hereditary Skeletal Muscle Channelopathies. 61
31567646 2019
28
An unusual case of sodium channel myotonia with transient weakness upon initiating movements which is characteristic in Becker disease. 61
28552867 2017
29
Spectrum of Nondystrophic Skeletal Muscle Channelopathies in Children. 61
28325641 2017
30
Influences of Pregnancy on Different Genetic Subtypes of Non-Dystrophic Myotonia and Periodic Paralysis. 61
27300293 2016
31
Myotonia congenita: novel mutations in CLCN1 gene. 61
26260254 2015
32
Novel N-terminal truncating CLCN1 mutation in severe Becker disease. 61
24920213 2014
33
Description of a novel c.374 G>A mutation in Becker disease. 61
23456831 2013
34
CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel. 61
24349310 2013
35
Moroccan consanguineous family with Becker myotonia and review. 61
22346025 2011
36
[Numeric alterations in the dys gene and their association with clinical features]. 61
21550932 2011
37
Dystrophins and DAPs are expressed in adipose tissue and are regulated by adipogenesis and extracellular matrix. 61
21147070 2011
38
Novel CLCN1 mutation in carbamazepine-responsive myotonia congenita. 61
20399394 2010
39
Recessive congenital myotonia resulting from maternal isodisomy of chromosome 7: a case report. 61
20181190 2009
40
[Usefulness of electromyography in diagnostics of the neuro-muscular diseases]. 61
20297628 2009
41
Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenita (Becker disease) carrying a new mutation in the CLCN1 gene. 61
18624224 2008
42
Novel human pathological mutations. Gene symbol: CLCN1. Disease: myotonia congenita, autosomal recessive. 61
17717708 2007
43
Myotonia levior: contribution to the nosography. 61
3231989 1988

Variations for Myotonia Congenita, Autosomal Recessive

ClinVar genetic disease variations for Myotonia Congenita, Autosomal Recessive:

6 (show top 50) (show all 175) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CLCN1 NM_000083.3(CLCN1):c.979+1G>ASNV Pathogenic 17534 rs1563078827 7:143027991-143027991 7:143330898-143330898
2 CLCN1 NM_000083.3(CLCN1):c.1488G>T (p.Arg496Ser)SNV Pathogenic 17535 rs121912801 7:143036620-143036620 7:143339527-143339527
3 CLCN1 NM_000083.3(CLCN1):c.1238T>G (p.Phe413Cys)SNV Pathogenic 17531 rs121912799 7:143029583-143029583 7:143332490-143332490
4 CLCN1 NM_000083.3(CLCN1):c.870C>G (p.Ile290Met)SNV Pathogenic 17539 rs80356690 7:143027881-143027881 7:143330788-143330788
5 CLCN1 CLCN1, 14-BP DELdeletion Pathogenic 17540
6 CLCN1 NM_000083.3(CLCN1):c.871G>A (p.Glu291Lys)SNV Pathogenic 17541 rs121912805 7:143027882-143027882 7:143330789-143330789
7 CLCN1 NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu)SNV Pathogenic 17532 rs80356700 7:143018934-143018934 7:143321841-143321841
8 CLCN1 NM_000083.3(CLCN1):c.1495G>A (p.Gly499Arg)SNV Pathogenic 17543 rs121912807 7:143036627-143036627 7:143339534-143339534
9 CLCN1 NM_000083.3(CLCN1):c.830dup (p.Cys277fs)duplication Pathogenic 17544 7:143021561-143021562 7:143324468-143324469
10 CLCN1 NM_000083.3(CLCN1):c.898_900delinsTGA (p.Arg300Ter)indel Pathogenic 17547 7:143027909-143027911 7:143330816-143330818
11 CLCN1 CLCN1, TRP433ARGundetermined variant Pathogenic 17549
12 CLCN1 NM_000083.3(CLCN1):c.1592C>T (p.Ala531Val)SNV Pathogenic 21040 rs80356704 7:143039031-143039031 7:143341938-143341938
13 CLCN1 NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser)SNV Pathogenic 21050 rs80356701 7:143027931-143027931 7:143330838-143330838
14 CLCN1 NM_000083.3(CLCN1):c.937G>A (p.Ala313Thr)SNV Pathogenic 21052 rs80356692 7:143027948-143027948 7:143330855-143330855
15 CLCN1 NG_009815.1:g.19647-?_28496+?dupduplication Pathogenic 40242
16 CLCN1 NM_000083.3(CLCN1):c.1453A>G (p.Met485Val)SNV Pathogenic 280101 rs146457619 7:143036397-143036397 7:143339304-143339304
17 CLCN1 NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu)SNV Pathogenic 280100 rs150885084 7:143027865-143027865 7:143330772-143330772
18 CLCN1 NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs)deletion Pathogenic 279778 rs768119034 7:143036380-143036393 7:143339287-143339300
19 CLCN1 NM_000083.3(CLCN1):c.180+3A>TSNV Pathogenic 289967 rs202217420 7:143013488-143013488 7:143316395-143316395
20 CLCN1 NM_000083.3(CLCN1):c.2635C>T (p.Gln879Ter)SNV Pathogenic 374131 rs1057518917 7:143048726-143048726 7:143351633-143351633
21 CLCN1 NM_000083.3(CLCN1):c.898_899delinsTA (p.Arg300Ter)indel Pathogenic 447074 rs1554436419 7:143027909-143027910 7:143330816-143330817
22 CLCN1 NM_000083.3(CLCN1):c.1129C>T (p.Arg377Ter)SNV Pathogenic 447045 rs201714423 7:143028708-143028708 7:143331615-143331615
23 CLCN1 NM_000083.3(CLCN1):c.1261dup (p.Arg421fs)duplication Pathogenic 447048 rs763633152 7:143029822-143029823 7:143332729-143332730
24 CLCN1 NM_000083.3(CLCN1):c.1471+1G>ASNV Pathogenic 447052 rs375596425 7:143036416-143036416 7:143339323-143339323
25 CLCN1 NM_000083.3(CLCN1):c.1876C>T (p.Arg626Ter)SNV Pathogenic 447058 rs201894078 7:143039544-143039544 7:143342451-143342451
26 CLCN1 NM_000083.3(CLCN1):c.979G>A (p.Val327Ile)SNV Pathogenic 447078 rs774396430 7:143027990-143027990 7:143330897-143330897
27 CLCN1 NM_000083.3(CLCN1):c.1063G>A (p.Gly355Arg)SNV Pathogenic 447043 rs767000881 7:143028408-143028408 7:143331315-143331315
28 CLCN1 NM_000083.3(CLCN1):c.1918del (p.Val640fs)deletion Pathogenic 462826 rs1554438574 7:143039585-143039585 7:143342492-143342492
29 CLCN1 NM_000083.3(CLCN1):c.220C>T (p.Gln74Ter)SNV Pathogenic 462829 rs1554434400 7:143016887-143016887 7:143319794-143319794
30 CLCN1 NM_000083.3(CLCN1):c.469del (p.Leu157fs)deletion Pathogenic 462831 rs1554434794 7:143018492-143018492 7:143321399-143321399
31 CLCN1 NM_000083.2(CLCN1):c.50_434-202deldeletion Pathogenic 580190 7:143013355-143018256 7:143316262-143321163
32 CLCN1 NM_000083.3(CLCN1):c.1644_1645del (p.Glu548fs)deletion Pathogenic 570543 rs1563084597 7:143039083-143039084 7:143341990-143341991
33 CLCN1 NM_000083.3(CLCN1):c.2172+1G>TSNV Pathogenic 572040 rs1273524525 7:143042856-143042856 7:143345763-143345763
34 CLCN1 NM_000083.3(CLCN1):c.2285-1G>CSNV Pathogenic 573366 rs1222525763 7:143043671-143043671 7:143346578-143346578
35 CLCN1 NM_000083.3(CLCN1):c.2518_2519del (p.Leu840fs)deletion Pathogenic 567845 rs780534566 7:143047670-143047671 7:143350577-143350578
36 CLCN1 NM_000083.3(CLCN1):c.2419C>T (p.Gln807Ter)SNV Pathogenic 462830 rs1554439817 7:143047480-143047480 7:143350387-143350387
37 CLCN1 NC_000007.13:g.(?_143042594)_(143047767_?)deldeletion Pathogenic 583787 7:143042594-143047767 7:143345501-143350674
38 CLCN1 NM_000083.3(CLCN1):c.302-1G>ASNV Pathogenic 577893 rs529377088 7:143017756-143017756 7:143320663-143320663
39 CLCN1 NM_000083.3(CLCN1):c.1278_1281TTTG[1] (p.Phe428fs)short repeat Pathogenic 623350 7:143029843-143029846 7:143332750-143332753
40 CLCN1 NM_000083.3(CLCN1):c.478C>T (p.Gln160Ter)SNV Pathogenic 661766 7:143018502-143018502 7:143321409-143321409
41 CLCN1 NM_000083.3(CLCN1):c.789del (p.Ser264fs)deletion Pathogenic 661869 7:143021521-143021521 7:143324428-143324428
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.1357del (p.Arg453fs)deletion Pathogenic 648711 7:143029918-143029918 7:143332825-143332825
44 CLCN1 NM_000083.3(CLCN1):c.1357dup (p.Arg453fs)duplication Pathogenic 664719 7:143029917-143029918 7:143332824-143332825
45 CLCN1 NM_000083.3(CLCN1):c.1784G>A (p.Trp595Ter)SNV Pathogenic 639175 7:143039223-143039223 7:143342130-143342130
46 CLCN1 NM_000083.3(CLCN1):c.1478C>A (p.Ala493Glu)SNV Pathogenic 802379 7:143036610-143036610 7:143339517-143339517
47 CLCN1 NM_000083.3(CLCN1):c.1179T>A (p.Tyr393Ter)SNV Pathogenic/Likely pathogenic 489334 rs1554436799 7:143029524-143029524 7:143332431-143332431
48 CLCN1 NM_000083.3(CLCN1):c.892G>A (p.Ala298Thr)SNV Pathogenic/Likely pathogenic 531747 rs764100025 7:143027903-143027903 7:143330810-143330810
49 CLCN1 NM_000083.3(CLCN1):c.1444G>A (p.Gly482Arg)SNV Pathogenic/Likely pathogenic 546108 rs746125212 7:143036388-143036388 7:143339295-143339295
50 CLCN1 NM_000083.3(CLCN1):c.409T>G (p.Tyr137Asp)SNV Pathogenic/Likely pathogenic 571653 rs748639603 7:143017864-143017864 7:143320771-143320771

UniProtKB/Swiss-Prot genetic disease variations for Myotonia Congenita, Autosomal Recessive:

73 (show all 37)
# Symbol AA change Variation ID SNP ID
1 CLCN1 p.Arg105Cys VAR_001582 rs201509501
2 CLCN1 p.Asp136Gly VAR_001584
3 CLCN1 p.Tyr150Cys VAR_001585
4 CLCN1 p.Phe161Val VAR_001586
5 CLCN1 p.Val165Gly VAR_001587
6 CLCN1 p.Phe167Leu VAR_001588 rs149729531
7 CLCN1 p.Gly200Arg VAR_001589
8 CLCN1 p.Gly230Glu VAR_001590 rs80356700
9 CLCN1 p.Val236Leu VAR_001591
10 CLCN1 p.Tyr261Cys VAR_001592 rs200621976
11 CLCN1 p.Gly285Glu VAR_001593 rs150885084
12 CLCN1 p.Glu291Lys VAR_001596 rs121912805
13 CLCN1 p.Ala313Thr VAR_001599 rs80356692
14 CLCN1 p.Val327Ile VAR_001601 rs774396430
15 CLCN1 p.Ile329Thr VAR_001602
16 CLCN1 p.Arg338Gln VAR_001603 rs80356703
17 CLCN1 p.Phe413Cys VAR_001604 rs121912799
18 CLCN1 p.Ala415Val VAR_001605
19 CLCN1 p.Gly482Arg VAR_001608 rs746125212
20 CLCN1 p.Met485Val VAR_001609 rs146457619
21 CLCN1 p.Arg496Ser VAR_001610 rs121912801
22 CLCN1 p.Gln552Arg VAR_001611 rs80356696
23 CLCN1 p.Ile556Asn VAR_001612 rs80356697
24 CLCN1 p.Val563Ile VAR_001613
25 CLCN1 p.Phe708Leu VAR_001614
26 CLCN1 p.Gln43Arg VAR_075588 rs868831424
27 CLCN1 p.Tyr137Asp VAR_075592 rs748639603
28 CLCN1 p.Gln160His VAR_075594 rs771532474
29 CLCN1 p.Trp164Arg VAR_075595
30 CLCN1 p.Gly190Ser VAR_075596 rs797045032
31 CLCN1 p.Ile197Arg VAR_075598
32 CLCN1 p.Gly270Val VAR_075600
33 CLCN1 p.Cys277Arg VAR_075601 rs757109632
34 CLCN1 p.Cys277Tyr VAR_075602
35 CLCN1 p.Gln412Pro VAR_075603 rs127965800
36 CLCN1 p.Gly499Arg VAR_075606 rs121912807
37 CLCN1 p.Val640Gly VAR_075612

Expression for Myotonia Congenita, Autosomal Recessive

Search GEO for disease gene expression data for Myotonia Congenita, Autosomal Recessive.

Pathways for Myotonia Congenita, Autosomal Recessive

GO Terms for Myotonia Congenita, Autosomal Recessive

Sources for Myotonia Congenita, Autosomal Recessive

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