MYOSCN4A
MCID: MYT030
MIFTS: 46

Myotonia, Potassium-Aggravated (MYOSCN4A)

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

Aliases & Classifications for Myotonia, Potassium-Aggravated

MalaCards integrated aliases for Myotonia, Potassium-Aggravated:

Name: Myotonia, Potassium-Aggravated 56 39
Potassium Aggravated Myotonia 74 52 29 6 71
Myotonia Fluctuans 56 52 58 73 71
Myotonia Permanens 56 52 58 73
Myotonia Congenita, Atypical, Acetazolamide-Responsive 56 13 6
Potassium-Aggravated Myotonia 25 58 36
Myotonia Congenita, Acetazolamide-Responsive 56 52
Sodium Channel Muscle Disease 56 73
Myotonia Congenita, Atypical 56 52
Pam 25 58
Acetazolamide-Responsive Congenital Myotonia 58
Myotonia Congenita Acetazolamide-Responsive 73
Exercise-Induced Delayed-Onset Myotonia 58
Myotonia-Painful Contractions Syndrome 58
Acz-Responsive Congenital Myotonia 58
Acetazolamide-Responsive Myotonia 58
Hyperkalemic Periodic Paralysis 71
Myotonia Potassium-Aggravated 73
Painful Congenital Myotonia 58
Myotonia Congenita Atypical 73
Sodium Channel Myotonia 25
Acz-Responsive Myotonia 58
K+-Aggravated Myotonia 58
Myotonia Scn4a-Related 73
K-Aggravated Myotonia 58
Fluctuating Myotonia 58
Painful Myotonia 58
Myoscn4a 73
Scm 73

Characteristics:

Orphanet epidemiological data:

58
potassium-aggravated myotonia
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy;
myotonia fluctuans
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy;
myotonia permanens
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy;
acetazolamide-responsive myotonia
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
allelic disorder to hyperkalemic periodic paralysis (hypp, )
allelic disorder to hypokalemic periodic paralysis (hokpp, )
allelic disorder to paramyotonia congenita
highly variable phenotype including fluctuating phenotype ('fluctuans') or severe phenotype ('permanens')


HPO:

31
myotonia, potassium-aggravated:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Myotonia, Potassium-Aggravated

NIH Rare Diseases : 52 Potassium aggravated myotonia is a group of diseases that causes tensing and stiffness (myotonia ) of skeletal muscles , which are the muscles used for movement. The three types of potassium-aggravated myotonia include myotonia fluctuans, myotonia permanens, and acetazolamide-sensitive myotonia. Potassium aggravated myotonia is different from other types of myotonia because symptoms get worse when an affected individual eats food that is rich in potassium . Symptoms usually develop during childhood and vary, ranging from infrequent mild episodes to long periods of severe disease. Potassium aggravated myotonia is an inherited condition that is caused by changes (mutations ) in the SCN4A gene . Treatment begins with avoiding foods that contain large amounts of potassium; other treatments may include physical therapy (stretching or massages to help relax muscles) or certain medications (such as mexiletine , carbamazapine , or acetazolamide ).

MalaCards based summary : Myotonia, Potassium-Aggravated, also known as potassium aggravated myotonia, is related to nondystrophic myotonia and myotonia congenita, autosomal dominant, and has symptoms including myalgia, stridor and muscular stiffness. An important gene associated with Myotonia, Potassium-Aggravated is SCN4A (Sodium Voltage-Gated Channel Alpha Subunit 4). The drugs Dichlorphenamide and Hops have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, bone and heart, and related phenotypes are hypertonia and emg abnormality

Genetics Home Reference : 25 Potassium-aggravated myotonia is a disorder that affects muscles used for movement (skeletal muscles). Beginning in childhood or adolescence, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. Myotonia causes muscle stiffness that worsens after exercise and may be aggravated by eating potassium-rich foods such as bananas and potatoes. Stiffness occurs in skeletal muscles throughout the body. Potassium-aggravated myotonia ranges in severity from mild episodes of muscle stiffness to severe, disabling disease with frequent attacks. Unlike some other forms of myotonia, potassium-aggravated myotonia is not associated with episodes of muscle weakness.

OMIM : 56 In a report on the 37th ENMC Workshop, Rudel and Lehmann-Horn (1997) stated that the sodium channelopathies can be divided into 3 different forms: paramyotonia, potassium-aggravated myotonia, and periodic paralysis. Potassium-aggravated myotonia includes mild myotonia fluctuans, severe myotonia permanens, and acetazolamide-responsive myotonia. (608390)

KEGG : 36 Potassium-aggravated myotonia (PAM), which is also known as sodium channel myotonia (SCM), is a group of pure myotonic disorders caused by mutations in the SCN4A gene. PAM includes three diseases with very similar phenotypes: myotonia fluctuans, myotonia permanens, and acetazolamide-sensitive myotonia. These disorders differ from the other nondystrophic myotonias in that: (1) the myotonia is exacerbated by potassium ingestion; (2) the myotonia does not worsen with cold exposure; and (3) there is no major weakness.

UniProtKB/Swiss-Prot : 73 Myotonia SCN4A-related: A phenotypically highly variable myotonia aggravated by potassium loading, and sometimes by cold. Myotonia is characterized by sustained muscle tensing that prevents muscles from relaxing normally. It 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. Myotonia SCN4A-related includes myotonia permanens and myotonia fluctuans. In myotonia permanens, the myotonia is generalized and there is a hypertrophy of the muscle, particularly in the neck and the shoulder. Attacks of severe muscle stiffness of the thoracic muscles may be life threatening due to impaired ventilation. In myotonia fluctuans, the muscle stiffness may fluctuate from day to day, provoked by exercise.

Wikipedia : 74 Potassium-aggravated myotonia is a rare genetic disorder that affects skeletal muscle. Beginning in... more...

Related Diseases for Myotonia, Potassium-Aggravated

Diseases related to Myotonia, Potassium-Aggravated via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 48)
# Related Disease Score Top Affiliating Genes
1 nondystrophic myotonia 11.8
2 myotonia congenita, autosomal dominant 11.6
3 diastematomyelia 11.4
4 myotonia 10.5
5 muscle hypertrophy 10.5
6 paramyotonia congenita of von eulenburg 10.5
7 schwartz-jampel syndrome, type 1 10.4
8 hyperkalemic periodic paralysis 10.3
9 myotonia congenita 10.3
10 myotonic disease 10.3
11 periodic paralysis 10.3
12 overgrowth syndrome 10.2
13 periodic paralyses 10.1
14 autoimmune disease 10.0
15 colorectal cancer 10.0
16 prostate cancer 10.0
17 torticollis 10.0
18 leukemia, acute lymphoblastic 10.0
19 mononeuropathy of the median nerve, mild 10.0
20 gastric cancer 10.0
21 helix syndrome 10.0
22 rheumatic heart disease 10.0
23 lymphocytic leukemia 10.0
24 mastitis 10.0
25 hydrocephalus 10.0
26 necrotizing sialometaplasia 10.0
27 acute poststreptococcal glomerulonephritis 10.0
28 bruxism 10.0
29 glomerulonephritis 10.0
30 teratoma 10.0
31 mucoepidermoid carcinoma 10.0
32 severe combined immunodeficiency 10.0
33 adenoma 10.0
34 pseudosarcomatous fibromatosis 10.0
35 intermediate coronary syndrome 10.0
36 fasciitis 10.0
37 cerebellar degeneration 10.0
38 tremor 10.0
39 hypokalemic periodic paralysis, type 1 10.0
40 myasthenia gravis 10.0
41 myotonia congenita, autosomal recessive 10.0
42 hypokalemic periodic paralysis, type 2 10.0
43 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.0
44 respiratory failure 10.0
45 clubfoot 10.0
46 congenital myasthenic syndrome 10.0
47 myotonic dystrophy 10.0
48 dysphagia 10.0

Graphical network of the top 20 diseases related to Myotonia, Potassium-Aggravated:



Diseases related to Myotonia, Potassium-Aggravated

Symptoms & Phenotypes for Myotonia, Potassium-Aggravated

Human phenotypes related to Myotonia, Potassium-Aggravated:

58 31 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertonia 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0001276
2 emg abnormality 58 31 frequent (33%) Frequent (79-30%),Very frequent (99-80%),Frequent (79-30%),Frequent (79-30%) HP:0003457
3 myotonia 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0002486
4 myalgia 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%),Occasional (29-5%),Very frequent (99-80%) HP:0003326
5 muscle spasm 31 occasional (7.5%) HP:0003394
6 gait disturbance 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%),Occasional (29-5%),Occasional (29-5%) HP:0001288
7 dysphagia 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%),Occasional (29-5%) HP:0002015
8 flexion contracture 58 31 frequent (33%) Frequent (79-30%) HP:0001371
9 feeding difficulties in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0008872
10 chest pain 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%),Frequent (79-30%) HP:0100749
11 elevated serum creatine kinase 31 occasional (7.5%) HP:0003236
12 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
13 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
14 muscle weakness 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0001324
15 respiratory insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002093
16 hyperlordosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003307
17 joint stiffness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001387
18 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
19 myopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003198
20 dyspnea 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002094
21 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
22 limitation of joint mobility 58 31 occasional (7.5%) Occasional (29-5%) HP:0001376
23 ophthalmoparesis 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0000597
24 ophthalmoplegia 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000602
25 abnormality of the voice 58 31 occasional (7.5%) Occasional (29-5%) HP:0001608
26 asthma 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002099
27 blepharospasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0000643
28 hyperkalemia 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002153
29 skeletal muscle hypertrophy 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0003712
30 muscular edema 58 31 occasional (7.5%) Occasional (29-5%) HP:0100748
31 dysesthesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0012534
32 generalized muscle hypertrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003720
33 elevated serum creatine phosphokinase 58 Frequent (79-30%),Occasional (29-5%)
34 muscle stiffness 31 HP:0003552
35 apneic episodes in infancy 31 HP:0005949
36 muscle cramps 58 Occasional (29-5%),Very frequent (99-80%),Very frequent (99-80%),Frequent (79-30%)
37 laryngospasm 31 HP:0025425
38 stridor 31 HP:0010307

Symptoms via clinical synopsis from OMIM:

56
Muscle Soft Tissue:
muscle stiffness
muscle pain
muscle hypertrophy
myotonia, potassium-sensitive (may be responsive to acetazolamide)
muscle weakness usually does not occur
more
Laboratory Abnormalities:
serum creatine kinase may be increased

Respiratory Larynx:
stridor
laryngospasm, neonatal

Respiratory:
apnea, episodic, neonatal

Clinical features from OMIM:

608390

UMLS symptoms related to Myotonia, Potassium-Aggravated:


myalgia, stridor, muscular stiffness

Drugs & Therapeutics for Myotonia, Potassium-Aggravated

Drugs for Myotonia, Potassium-Aggravated (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dichlorphenamide Approved, Investigational Phase 3 120-97-8 3038
2 Hops Approved Phase 3
3
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
4
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
5 Carbonic Anhydrase Inhibitors Phase 3
6 Tranquilizing Agents Phase 3
7 Antipsychotic Agents Phase 3
8 Psychotropic Drugs Phase 3
9 Sodium Channel Blockers Phase 3
10 Anticonvulsants Phase 3
11 Calcium, Dietary Phase 3
12 calcium channel blockers Phase 3
13 Central Nervous System Depressants Phase 3
14 Diuretics, Potassium Sparing Phase 3
15 Hormones Phase 3
16
Lidocaine Approved, Vet_approved Phase 2 137-58-6 3676
17
Mexiletine Approved, Investigational Phase 2 31828-71-4 4178
18 Anti-Arrhythmia Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase III Randomized, Double-Blind, Placebo-Controlled Study of Dichlorphenamide for Periodic Paralyses and Associated Sodium Channel Disorders Completed NCT00004802 Phase 3 dichlorphenamide
2 Dichlorphenamide vs. Placebo for Periodic Paralysis Completed NCT00494507 Phase 3 Dichlorphenamide (double-blind);Placebo (double-blind);Dichlorphenamide (open-label)
3 Lamotrigine as Treatment of Myotonia - a Phase 3 Randomized Controlled Trial Study Completed NCT01939561 Phase 3 Lamotrigine;Placebo
4 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

Search NIH Clinical Center for Myotonia, Potassium-Aggravated

Genetic Tests for Myotonia, Potassium-Aggravated

Genetic tests related to Myotonia, Potassium-Aggravated:

# Genetic test Affiliating Genes
1 Potassium Aggravated Myotonia 29 SCN4A

Anatomical Context for Myotonia, Potassium-Aggravated

MalaCards organs/tissues related to Myotonia, Potassium-Aggravated:

40
Skeletal Muscle, Bone, Heart, Prostate

Publications for Myotonia, Potassium-Aggravated

Articles related to Myotonia, Potassium-Aggravated:

(show all 45)
# Title Authors PMID Year
1
Familial cramp due to potassium-aggravated myotonia. 61 56 6
9771789 1998
2
Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians. 56 6
18337100 2009
3
Autosomal dominant monosymptomatic myotonia permanens. 56 6
16832098 2006
4
Myotonia fluctuans. A third type of muscle sodium channel disease. 56 6
7980103 1994
5
Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis. 56 6
8058156 1994
6
Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker. 56 6
8308722 1993
7
A novel SCN4A mutation causing myotonia aggravated by cold and potassium. 56 6
8242056 1993
8
Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: a new treatable disorder. 56
20713951 2010
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
Functional consequences of a domain 1/S6 segment sodium channel mutation associated with painful congenital myotonia. 6
10218481 1999
12
A novel muscle sodium channel mutation causes painful congenital myotonia. 6
9392583 1997
13
Paramyotonia, potassium-aggravated myotonias and periodic paralyses. 37th ENMC International Workshop, Naarden, The Netherlands, 8-10 December 1995. 56
9131654 1997
14
Non-dystrophic myotonias and periodic paralyses. A European Neuromuscular Center Workshop held 4-6 October 1992, Ulm, Germany. 56
7689382 1993
15
Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel. 6
1338909 1992
16
Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita. 6
1310898 1992
17
Linkage of atypical myotonia congenita to a sodium channel locus. 56
1310531 1992
18
Acetazolamide-responsive myotonia congenita. 56
3822145 1987
19
A Sodium Channel Myotonia Presenting with Intermittent Dysphagia as a Manifestation of a Rare SCN4A Variant. 61
28012096 2017
20
Painful cramps and giant myotonic discharges in a family with the Nav1.4-G1306A mutation. 61
26080010 2015
21
Altered fast and slow inactivation of the N440K Nav1.4 mutant in a periodic paralysis syndrome. 61
22914841 2012
22
Biophysical characterization of M1476I, a sodium channel founder mutation associated with cold-induced myotonia in French Canadians. 61
22250216 2012
23
A novel N440K sodium channel mutation causes myotonia with exercise-induced weakness--exclusion of CLCN1 exon deletion/duplication by MLPA. 61
22106717 2011
24
Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy. 61
20076800 2009
25
New mutation of the Na channel in the severe form of potassium-aggravated myotonia. 61
19347921 2009
26
What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed. 61
18166706 2008
27
Muscle channelopathies and electrophysiological approach. 61
19966974 2008
28
The nondystrophic myotonias. 61
17395134 2007
29
[A girl with hereditary myotonia due to an exceptional sodium channel mutation]. 61
17137100 2006
30
Muscle Na+ channelopathies: MRI detects intracellular 23Na accumulation during episodic weakness. 61
16931510 2006
31
A new case of autosomal dominant myotonia associated with the V1589M missense mutation in the muscle sodium channel gene and its phenotypic classification. 61
16624558 2006
32
K-aggravated myotonia mutations at residue G1306 differentially alter deactivation gating of human skeletal muscle sodium channels. 61
16392038 2005
33
Mexiletine block of wild-type and inactivation-deficient human skeletal muscle hNav1.4 Na+ channels. 61
14608007 2004
34
Different flecainide sensitivity of hNav1.4 channels and myotonic mutants explained by state-dependent block. 61
14608015 2004
35
Muscle biopsy and cell cultures: potential diagnostic tools in hereditary skeletal muscle channelopathies. 61
12685554 2003
36
Impairment of slow inactivation as a common mechanism for periodic paralysis in DIIS4-S5. 61
11971097 2002
37
Gating of myotonic Na channel mutants defines the response to mexiletine and a potent derivative. 61
11723275 2001
38
Inherited ion channel disorders. 61
11216900 2000
39
The human skeletal muscle Na channel mutation R669H associated with hypokalemic periodic paralysis enhances slow inactivation. 61
11102465 2000
40
Myopathic mutations affect differently the inactivation of the two gating modes of sodium channels. 61
10682917 1999
41
Activation and inactivation of the voltage-gated sodium channel: role of segment S5 revealed by a novel hyperkalaemic periodic paralysis mutation. 61
10366610 1999
42
Defective slow inactivation of sodium channels contributes to familial periodic paralysis. 61
10227633 1999
43
The dominant chloride channel mutant G200R causing fluctuating myotonia: clinical findings, electrophysiology, and channel pathology. 61
9703437 1998
44
[Ion channel diseases in neurology]. 61
9480290 1997
45
Paramyotonia congenita: genotype to phenotype correlations in two families and report of a new mutation in the sodium channel gene. 61
8902732 1996

Variations for Myotonia, Potassium-Aggravated

ClinVar genetic disease variations for Myotonia, Potassium-Aggravated:

6 (show top 50) (show all 157) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCN4A NM_000334.4(SCN4A):c.3917G>T (p.Gly1306Val)SNV Pathogenic 5903 rs80338792 17:62021206-62021206 17:63943846-63943846
2 SCN4A NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met)SNV Pathogenic 5904 rs121908547 17:62021185-62021185 17:63943825-63943825
3 SCN4A NM_000334.4(SCN4A):c.4765G>A (p.Val1589Met)SNV Pathogenic 5905 rs121908548 17:62018877-62018877 17:63941517-63941517
4 SCN4A NM_000334.4(SCN4A):c.3478A>G (p.Ile1160Val)SNV Pathogenic 5906 rs121908549 17:62022962-62022962 17:63945602-63945602
5 SCN4A NM_000334.4(SCN4A):c.3917G>C (p.Gly1306Ala)SNV Pathogenic 5908 rs80338792 17:62021206-62021206 17:63943846-63943846
6 SCN4A NM_000334.4(SCN4A):c.1333G>A (p.Val445Met)SNV Pathogenic 5910 rs121908552 17:62041947-62041947 17:63964587-63964587
7 SCN4A NM_000334.4(SCN4A):c.3917G>A (p.Gly1306Glu)SNV Pathogenic 5920 rs80338792 17:62021206-62021206 17:63943846-63943846
8 SCN4A NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met)SNV Pathogenic 5896 rs80338957 17:62034787-62034787 17:63957427-63957427
9 SCN4A NM_000334.4(SCN4A):c.4774A>G (p.Met1592Val)SNV Pathogenic 5897 rs80338962 17:62018868-62018868 17:63941508-63941508
10 SCN4A NM_000334.4(SCN4A):c.2009C>A (p.Ser670Tyr)SNV Pathogenic 617484 rs914586984 17:62036635-62036635 17:63959275-63959275
11 SCN4A NM_000334.4(SCN4A):c.664C>T (p.Arg222Trp)SNV Pathogenic/Likely pathogenic 143199 rs527236148 17:62048561-62048561 17:63971201-63971201
12 SCN4A NM_000334.4(SCN4A):c.2411C>T (p.Ser804Phe)SNV Likely pathogenic 5901 rs121908546 17:62029226-62029226 17:63951866-63951866
13 SCN4A NM_000334.4(SCN4A):c.4776G>A (p.Met1592Ile)SNV Likely pathogenic 427072 rs886041805 17:62018866-62018866 17:63941506-63941506
14 SCN4A NM_000334.4(SCN4A):c.1796A>G (p.His599Arg)SNV Conflicting interpretations of pathogenicity 324537 rs187401185 17:62038602-62038602 17:63961242-63961242
15 SCN4A NM_000334.4(SCN4A):c.1462G>A (p.Ala488Thr)SNV Conflicting interpretations of pathogenicity 324540 rs185941768 17:62041176-62041176 17:63963816-63963816
16 SCN4A NM_000334.4(SCN4A):c.1120G>A (p.Glu374Lys)SNV Conflicting interpretations of pathogenicity 324546 rs766463226 17:62043584-62043584 17:63966224-63966224
17 SCN4A NM_000334.4(SCN4A):c.4886C>T (p.Pro1629Leu)SNV Conflicting interpretations of pathogenicity 324512 rs202102815 17:62018756-62018756 17:63941396-63941396
18 SCN4A NM_000334.4(SCN4A):c.3360G>A (p.Ser1120=)SNV Conflicting interpretations of pathogenicity 324522 rs377187913 17:62024486-62024486 17:63947126-63947126
19 SCN4A NM_000334.4(SCN4A):c.3136G>T (p.Gly1046Trp)SNV Conflicting interpretations of pathogenicity 324524 rs759982229 17:62025979-62025979 17:63948619-63948619
20 SCN4A NM_000334.4(SCN4A):c.2563A>G (p.Met855Val)SNV Conflicting interpretations of pathogenicity 324534 rs372019457 17:62029074-62029074 17:63951714-63951714
21 SCN4A NM_000334.4(SCN4A):c.2697G>A (p.Leu899=)SNV Conflicting interpretations of pathogenicity 324528 rs199827271 17:62028940-62028940 17:63951580-63951580
22 SCN4A NM_000334.4(SCN4A):c.2478C>T (p.Ile826=)SNV Conflicting interpretations of pathogenicity 194331 rs371914255 17:62029159-62029159 17:63951799-63951799
23 SCN4A NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile)SNV Conflicting interpretations of pathogenicity 195797 rs202106192 17:62018952-62018952 17:63941592-63941592
24 SCN4A NM_000334.4(SCN4A):c.952T>C (p.Trp318Arg)SNV Conflicting interpretations of pathogenicity 252477 rs199676994 17:62045467-62045467 17:63968107-63968107
25 SCN4A NM_000334.4(SCN4A):c.4125C>T (p.Asp1375=)SNV Conflicting interpretations of pathogenicity 255853 rs375607705 17:62020349-62020349 17:63942989-63942989
26 SCN4A NM_000334.4(SCN4A):c.3604G>A (p.Glu1202Lys)SNV Conflicting interpretations of pathogenicity 130233 rs201916531 17:62022836-62022836 17:63945476-63945476
27 SCN4A NM_000334.4(SCN4A):c.483-9C>ASNV Conflicting interpretations of pathogenicity 255857 rs201552497 17:62049219-62049219 17:63971859-63971859
28 SCN4A NM_000334.4(SCN4A):c.403A>C (p.Met135Leu)SNV Conflicting interpretations of pathogenicity 255852 rs148028364 17:62049575-62049575 17:63972215-63972215
29 SCN4A NM_000334.4(SCN4A):c.1100+7G>ASNV Conflicting interpretations of pathogenicity 255842 rs200770684 17:62043834-62043834 17:63966474-63966474
30 SCN4A NM_000334.4(SCN4A):c.2995G>A (p.Val999Met)SNV Conflicting interpretations of pathogenicity 324525 rs377277110 17:62026120-62026120 17:63948760-63948760
31 SCN4A NM_000334.4(SCN4A):c.2704G>A (p.Gly902Ser)SNV Conflicting interpretations of pathogenicity 543804 rs200517944 17:62028933-62028933 17:63951573-63951573
32 SCN4A NM_000334.4(SCN4A):c.4429A>G (p.Met1477Val)SNV Uncertain significance 543806 rs1465376529 17:62019213-62019213 17:63941853-63941853
33 SCN4A NM_000334.4(SCN4A):c.1139G>A (p.Arg380Gln)SNV Uncertain significance 570912 rs374446143 17:62043565-62043565 17:63966205-63966205
34 SCN4A NM_000334.4(SCN4A):c.845G>A (p.Arg282His)SNV Uncertain significance 579612 rs200615763 17:62045574-62045574 17:63968214-63968214
35 SCN4A NM_000334.4(SCN4A):c.2468A>C (p.Gln823Pro)SNV Uncertain significance 582148 rs753182664 17:62029169-62029169 17:63951809-63951809
36 SCN4A NM_000334.4(SCN4A):c.5482C>T (p.Arg1828Cys)SNV Uncertain significance 577832 rs758511540 17:62018160-62018160 17:63940800-63940800
37 SCN4A NM_000334.4(SCN4A):c.4222C>T (p.Arg1408Cys)SNV Uncertain significance 568015 rs118047588 17:62020252-62020252 17:63942892-63942892
38 SCN4A NM_000334.4(SCN4A):c.3004T>C (p.Trp1002Arg)SNV Uncertain significance 579545 rs544082594 17:62026111-62026111 17:63948751-63948751
39 SCN4A NM_000334.4(SCN4A):c.2576G>A (p.Gly859Glu)SNV Uncertain significance 324533 rs886053248 17:62029061-62029061 17:63951701-63951701
40 SCN4A NM_000334.4(SCN4A):c.*394A>CSNV Uncertain significance 324497 rs886053244 17:62017737-62017737 17:63940377-63940377
41 SCN4A NM_000334.4(SCN4A):c.5284G>A (p.Gly1762Arg)SNV Uncertain significance 324508 rs763493738 17:62018358-62018358 17:63940998-63940998
42 SCN4A NM_000334.4(SCN4A):c.*1572T>GSNV Uncertain significance 324477 rs771871843 17:62016559-62016559 17:63939199-63939199
43 SCN4A NM_000334.4(SCN4A):c.*755G>ASNV Uncertain significance 324493 rs886053243 17:62017376-62017376 17:63940016-63940016
44 SCN4A NM_000334.4(SCN4A):c.553G>A (p.Asp185Asn)SNV Uncertain significance 197134 rs778661227 17:62049140-62049140 17:63971780-63971780
45 SCN4A NM_000334.4(SCN4A):c.4609G>A (p.Gly1537Ser)SNV Uncertain significance 222028 rs571210585 17:62019033-62019033 17:63941673-63941673
46 SCN4A NM_000334.4(SCN4A):c.1594G>A (p.Asp532Asn)SNV Uncertain significance 324539 rs747479565 17:62041044-62041044 17:63963684-63963684
47 SCN4A NM_000334.4(SCN4A):c.2256C>T (p.Leu752=)SNV Uncertain significance 324535 rs375596512 17:62034642-62034642 17:63957282-63957282
48 SCN4A NM_000334.4(SCN4A):c.5457C>T (p.Pro1819=)SNV Uncertain significance 324505 rs761023866 17:62018185-62018185 17:63940825-63940825
49 SCN4A NM_000334.4(SCN4A):c.5294C>G (p.Ala1765Gly)SNV Uncertain significance 324506 rs748434431 17:62018348-62018348 17:63940988-63940988
50 SCN4A NM_000334.4(SCN4A):c.4711C>T (p.Pro1571Ser)SNV Uncertain significance 324514 rs772552529 17:62018931-62018931 17:63941571-63941571

UniProtKB/Swiss-Prot genetic disease variations for Myotonia, Potassium-Aggravated:

73 (show all 17)
# Symbol AA change Variation ID SNP ID
1 SCN4A p.Ala1156Thr VAR_001565 rs80338958
2 SCN4A p.Gly1306Glu VAR_001568 rs80338792
3 SCN4A p.Gly1306Val VAR_001569 rs80338792
4 SCN4A p.Val445Met VAR_017786 rs121908552
5 SCN4A p.Ile1160Val VAR_017793 rs121908549
6 SCN4A p.Ile141Val VAR_054934 rs121908561
7 SCN4A p.Glu452Lys VAR_054937 rs372631097
8 SCN4A p.Phe671Ser VAR_054938
9 SCN4A p.Ala715Thr VAR_054940 rs749400108
10 SCN4A p.Ser804Asn VAR_054942
11 SCN4A p.Asn1297Lys VAR_054945 rs121908560
12 SCN4A p.Ile1310Asn VAR_054946
13 SCN4A p.Met1476Ile VAR_054950 rs121908559
14 SCN4A p.Ala1481Asp VAR_054951
15 SCN4A p.Arg225Trp VAR_065230 rs764718003
16 SCN4A p.Gln1633Glu VAR_074581
17 SCN4A p.Phe1290Leu VAR_079519

Expression for Myotonia, Potassium-Aggravated

Search GEO for disease gene expression data for Myotonia, Potassium-Aggravated.

Pathways for Myotonia, Potassium-Aggravated

GO Terms for Myotonia, Potassium-Aggravated

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