MYOSCN4A
MCID: MYT030
MIFTS: 46

Myotonia, Potassium-Aggravated (MYOSCN4A)

Categories: Bone diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Myotonia, Potassium-Aggravated

MalaCards integrated aliases for Myotonia, Potassium-Aggravated:

Name: Myotonia, Potassium-Aggravated 57
Myotonia Fluctuans 57 19 58 73 5 71
Potassium-Aggravated Myotonia 42 58 28 5 75
Myotonia Permanens 57 19 58 73 5
Myotonia Congenita, Atypical, Acetazolamide-Responsive 57 12 5 38
Potassium Aggravated Myotonia 19 75 71
Myotonia Congenita, Acetazolamide-Responsive 57 19
Sodium Channel Muscle Disease 57 73
Myotonia Congenita, Atypical 57 19
Pam 42 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 42
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:


Inheritance:

Myotonia, Potassium-Aggravated: Autosomal dominant 57
Potassium-Aggravated Myotonia: Autosomal dominant 58
Myotonia Fluctuans: Autosomal dominant 58
Myotonia Permanens: Autosomal dominant 58
Acetazolamide-Responsive Myotonia: Autosomal dominant 58

Age Of Onset:

Potassium-Aggravated Myotonia: Childhood 58
Myotonia Fluctuans: Childhood 58
Myotonia Permanens: Childhood 58
Acetazolamide-Responsive Myotonia: Childhood 58

OMIM®:

57 (Updated 08-Dec-2022)
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')


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Myotonia, Potassium-Aggravated

MedlinePlus Genetics: 42 Potassium-aggravated myotonia is a disorder that affects muscles used for movement (skeletal muscles). Beginning in childhood or adolescence, people with this condition experience episodes of sustained muscle tensing (myotonia) that prevent muscles from relaxing. Myotonia causes muscle stiffness that worsens after exercise. In this disorder, episodes of myotonia may also be triggered (aggravated) by eating foods that are high in the mineral potassium, such as bananas and potatoes. During these episodes, stiffness occurs in skeletal muscles throughout the body. Potassium-aggravated myotonia ranges in severity from mild episodes of muscle stiffness (myotonia fluctuans) to severe, disabling disease with frequent attacks (myotonia permanen). Unlike some other forms of myotonia, potassium-aggravated myotonia is not associated with episodes of muscle weakness.

MalaCards based summary: Myotonia, Potassium-Aggravated, also known as myotonia fluctuans, is related to myotonia and paramyotonia congenita of von eulenburg, 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 Lamotrigine and Hops have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, and related phenotypes are hypertonia and myotonia

UniProtKB/Swiss-Prot: 73 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.

GARD: 19 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 in the SCN4A gene.

Orphanet 58 Potassium-aggravated myotonia: A muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia.

Myotonia fluctuans: A form of potassium-aggravated myotonia (PAM) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion.

Myotonia permanens: A very rare, persistent and more severe form of potassium-aggravated myotonia (PAM).

Acetazolamide-responsive myotonia: A form of potassium-aggravated myotonia (PAM) which shows dramatic improvement with the use of acetazolamide (ACZ).

OMIM®: 57 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) (Updated 08-Dec-2022)

Wikipedia: 75 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 top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 myotonia 30.2 SCN4A GH-LCR
2 paramyotonia congenita of von eulenburg 29.9 SCN4A GH-LCR
3 hypokalemic periodic paralysis, type 2 29.8 SCN4A GH-LCR
4 hyperkalemic periodic paralysis 29.6 SCN4A GH-LCR
5 hypokalemic periodic paralysis, type 1 29.4 SCN4A GH-LCR
6 myotonia congenita, autosomal dominant 11.3
7 diastematomyelia 11.3
8 myotonic dystrophy 2 11.2
9 split cord malformation type ii 11.1
10 muscle hypertrophy 10.3
11 neuromuscular disease 10.3
12 hypokalemia 10.3
13 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.1
14 schwartz-jampel syndrome, type 1 10.1
15 respiratory failure 10.1
16 myotonia congenita, autosomal recessive 10.1
17 myotonia congenita 10.1
18 myotonic disease 10.1
19 periodic paralysis 10.1
20 myotonic dystrophy 1 10.0
21 strabismus 10.0
22 myasthenia gravis 10.0
23 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 10.0
24 clubfoot 10.0
25 congenital myasthenic syndrome 10.0
26 esotropia 10.0
27 children's interstitial lung disease 10.0
28 nondystrophic myotonia 10.0
29 mastitis 10.0
30 brain cancer 10.0
31 endometriosis 10.0
32 overgrowth syndrome 10.0
33 autoimmune disease 9.8
34 hypercholesterolemia, familial, 1 9.8
35 torticollis 9.8
36 down syndrome 9.8
37 gaucher disease, type i 9.8
38 immune deficiency disease 9.8
39 enhanced s-cone syndrome 9.8
40 cognitive function 1, social 9.8
41 orofaciodigital syndrome i 9.8
42 stroke, ischemic 9.8
43 glass syndrome 9.8
44 mononeuropathy of the median nerve, mild 9.8
45 bacteremia 2 9.8
46 helix syndrome 9.8
47 lipoprotein quantitative trait locus 9.8
48 rheumatic heart disease 9.8
49 endometritis 9.8
50 cerebral artery occlusion 9.8

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 30 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertonia 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0001276
2 myotonia 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0002486
3 myalgia 58 30 Occasional (7.5%) Very frequent (99-80%)
Occasional (29-5%)
Occasional (29-5%)
HP:0003326
4 muscle spasm 58 30 Hallmark (90%) Frequent (79-30%)
Very frequent (99-80%)
HP:0003394
5 emg: myotonic discharges 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100284
6 emg abnormality 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0003457
7 chest pain 58 30 Occasional (7.5%) Frequent (79-30%)
Occasional (29-5%)
HP:0100749
8 myotonia of the upper limb 58 30 Frequent (33%) Frequent (79-30%)
HP:0012903
9 exercise-induced muscle stiffness 58 30 Frequent (33%) Frequent (79-30%)
HP:0008967
10 spasticity of facial muscles 58 30 Frequent (33%) Frequent (79-30%)
HP:0002491
11 myotonia of the lower limb 58 30 Frequent (33%) Frequent (79-30%)
HP:0012902
12 intellectual disability 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001249
13 diplopia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000651
14 gait disturbance 58 30 Very rare (1%) Occasional (29-5%)
Occasional (29-5%)
Very rare (<4-1%)
HP:0001288
15 dysphagia 58 30 Occasional (7.5%) Occasional (29-5%)
Occasional (29-5%)
HP:0002015
16 hypothyroidism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000821
17 muscle weakness 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001324
18 hyperlordosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003307
19 short stature 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004322
20 fatigue 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012378
21 epicanthus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000286
22 asthma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002099
23 ophthalmoplegia 58 30 Occasional (7.5%) Occasional (29-5%)
Occasional (29-5%)
HP:0000602
24 dyspnea 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002094
25 abnormality of the voice 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001608
26 skeletal muscle hypertrophy 58 30 Occasional (7.5%) Occasional (29-5%)
Occasional (29-5%)
HP:0003712
27 limitation of joint mobility 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001376
28 generalized muscle hypertrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003720
29 blurred vision 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000622
30 handgrip myotonia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012899
31 myotonia of the face 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012900
32 elevated circulating creatine kinase concentration 30 Occasional (7.5%) HP:0003236
33 neonatal hypotonia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001319
34 strabismus 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000486
35 apnea 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002104
36 stridor 58 30 Very rare (1%) Very rare (<4-1%)
HP:0010307
37 proximal muscle weakness 58 30 Very rare (1%) Very rare (<4-1%)
HP:0003701
38 choking episodes 58 30 Very rare (1%) Very rare (<4-1%)
HP:0030842
39 laryngospasm 58 30 Very rare (1%) Very rare (<4-1%)
HP:0025425
40 myotonia with warm-up phenomenon 58 30 Very rare (1%) Very rare (<4-1%)
HP:0003740
41 muscle stiffness 58 30 Very frequent (99-80%)
HP:0003552
42 ophthalmoparesis 58 Occasional (29-5%)
Occasional (29-5%)
43 apneic episodes in infancy 30 HP:0005949
44 cold-sensitive myotonia 58 Excluded (0%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

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 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
2 Hops Approved Phase 3
3
Diclofenamide Approved, Investigational Phase 3 120-97-8 3038
4 Hormones Phase 3
5 Antipsychotic Agents Phase 3
6 Sodium Channel Blockers Phase 3
7 Psychotropic Drugs Phase 3
8 Calcium, Dietary Phase 3
9 Anticonvulsants Phase 3
10 calcium channel blockers Phase 3
11 Diuretics, Potassium Sparing Phase 3
12 Carbonic Anhydrase Inhibitors Phase 3
13
Calcium Nutraceutical Phase 3 7440-70-2 271

Interventional clinical trials:


# 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 Dichlorphenamide vs. Placebo for Periodic Paralysis Completed NCT00494507 Phase 3 Dichlorphenamide (double-blind);Placebo (double-blind);Dichlorphenamide (open-label)

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 28 SCN4A

Anatomical Context for Myotonia, Potassium-Aggravated

Organs/tissues related to Myotonia, Potassium-Aggravated:

MalaCards : Skeletal Muscle

Publications for Myotonia, Potassium-Aggravated

Articles related to Myotonia, Potassium-Aggravated:

(show top 50) (show all 115)
# Title Authors PMID Year
1
Autosomal dominant monosymptomatic myotonia permanens. 62 57 5
16832098 2006
2
Familial cramp due to potassium-aggravated myotonia. 62 57 5
9771789 1998
3
Myotonia fluctuans. A third type of muscle sodium channel disease. 62 57 5
7980103 1994
4
Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis. 62 57 5
8058156 1994
5
Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker. 62 57 5
8308722 1993
6
Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians. 57 5
18337100 2009
7
A novel SCN4A mutation causing myotonia aggravated by cold and potassium. 57 5
8242056 1993
8
Cold extends electromyography distinction between ion channel mutations causing myotonia. 62 57
16786525 2006
9
Functional consequences of a domain 1/S6 segment sodium channel mutation associated with painful congenital myotonia. 62 5
10218481 1999
10
A novel muscle sodium channel mutation causes painful congenital myotonia. 62 5
9392583 1997
11
Linkage of atypical myotonia congenita to a sodium channel locus. 62 57
1310531 1992
12
Acetazolamide-responsive myotonia congenita. 62 57
3822145 1987
13
Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: a new treatable disorder. 57
20713951 2010
14
Paramyotonia, potassium-aggravated myotonias and periodic paralyses. 37th ENMC International Workshop, Naarden, The Netherlands, 8-10 December 1995. 57
9131654 1997
15
Non-dystrophic myotonias and periodic paralyses. A European Neuromuscular Center Workshop held 4-6 October 1992, Ulm, Germany. 57
7689382 1993
16
Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel. 5
1338909 1992
17
Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita. 5
1310898 1992
18
Clinical comparison and functional study of the L703P: a recurrent mutation in human SCN4A that causes sodium channel myotonia. 62
36050252 2022
19
Acute myotonic reaction during succinylcholine anaesthesia. 62
36192135 2022
20
Case report: Sodium and chloride muscle channelopathy coexistence: A complicated phenotype and a challenging diagnosis. 62
36081873 2022
21
Coexistence of Charcot-Marie-Tooth 1A and nondystrophic myotonia due to PMP22 duplication and SCN4A pathogenic variants: a case report. 62
34996390 2022
22
p.Asn1180Ile mutation of SCN4A gene in an Italian family with myopathy and myotonic syndrome. 62
34378097 2021
23
Clinical and genetic spectrum of a Chinese cohort with SCN4A gene mutations. 62
33965302 2021
24
Sodium Channel Myotonia and a Novel Gly701Asp Mutation in the SCN4A Gene: From an Ophthalmological Symptom to a Familial Disease. 62
33762787 2021
25
New Challenges Resulting From the Loss of Function of Nav1.4 in Neuromuscular Diseases. 62
34671263 2021
26
Non-dystrophic myotonia Chilean cohort with predominance of the SCN4A Gly1306Glu variant. 62
32593548 2020
27
"Status myotonicus" in Nav1.4-M1592V channelopathy. 62
32327288 2020
28
Changes of Resurgent Na+ Currents in the Nav1.4 Channel Resulting from an SCN4A Mutation Contributing to Sodium Channel Myotonia. 62
32276507 2020
29
Sodium channel myotonia may be associated with high-risk brief resolved unexplained events. 62
32509969 2020
30
Sodium Channel Myotonia Due to Novel Mutations in Domain I of Nav1.4. 62
32411069 2020
31
Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients. 62
32849172 2020
32
Long-Term Safety and Usefulness of Mexiletine in a Large Cohort of Patients Affected by Non-dystrophic Myotonias. 62
32655465 2020
33
De novo variant in SCN4A causes neonatal sodium channel myotonia with general muscle stiffness and respiratory failure. 62
31732390 2019
34
Anesthetic management of a patient with sodium-channel myotonia: a case report. 62
32026975 2019
35
Pharmacogenetics of myotonic hNav1.4 sodium channel variants situated near the fast inactivation gate. 62
30611854 2019
36
Prevalence and mutation spectrum of skeletal muscle channelopathies in the Netherlands. 62
29606556 2018
37
In vivo assessment of muscle membrane properties in the sodium channel myotonias. 62
28877545 2018
38
Sodium Channelopathies of Skeletal Muscle. 62
28939973 2018
39
Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia. 62
28993909 2017
40
Myotonia permanens with Nav1.4-G1306E displays varied phenotypes during course of life. 62
29774303 2017
41
An unusual case of sodium channel myotonia with transient weakness upon initiating movements which is characteristic in Becker disease. 62
28552867 2017
42
Spectrum of Nondystrophic Skeletal Muscle Channelopathies in Children. 62
28325641 2017
43
A Sodium Channel Myotonia Presenting with Intermittent Dysphagia as a Manifestation of a Rare SCN4A Variant. 62
28012096 2017
44
A case of non-dystrophic myotonia with concomitant mutations in the SCN4A and CLCN1 genes. 62
27653901 2016
45
Translational approach to address therapy in myotonia permanens due to a new SCN4A mutation. 62
27164696 2016
46
Flecainide-Responsive Myotonia Permanens With SNEL Onset: A New Case and Literature Review. 62
26944947 2016
47
Painful cramps and giant myotonic discharges in a family with the Nav1.4-G1306A mutation. 62
26080010 2015
48
New phenotype and neonatal onset of sodium channel myotonia in a child with a novel mutation of SCN4A gene. 62
25735906 2015
49
A de novo Mutation in the SCN4A Gene Causing Sodium Channel Myotonia. 62
27858731 2015
50
Phenotypic variability in childhood of skeletal muscle sodium channelopathies. 62
25724373 2015

Variations for Myotonia, Potassium-Aggravated

ClinVar genetic disease variations for Myotonia, Potassium-Aggravated:

5 (show top 50) (show all 228)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GH-LCR, SCN4A NM_000334.4(SCN4A):c.3478A>G (p.Ile1160Val) SNV Pathogenic
5906 rs121908549 GRCh37: 17:62022962-62022962
GRCh38: 17:63945602-63945602
2 SCN4A NM_000334.4(SCN4A):c.2009C>A (p.Ser670Tyr) SNV Pathogenic
617484 rs914586984 GRCh37: 17:62036635-62036635
GRCh38: 17:63959275-63959275
3 SCN4A NM_000334.4(SCN4A):c.1333G>A (p.Val445Met) SNV Pathogenic
Pathogenic
5910 rs121908552 GRCh37: 17:62041947-62041947
GRCh38: 17:63964587-63964587
4 GH-LCR, SCN4A NM_000334.4(SCN4A):c.3917G>T (p.Gly1306Val) SNV Pathogenic
5903 rs80338792 GRCh37: 17:62021206-62021206
GRCh38: 17:63943846-63943846
5 GH-LCR, SCN4A NM_000334.4(SCN4A):c.4765G>A (p.Val1589Met) SNV Pathogenic
5905 rs121908548 GRCh37: 17:62018877-62018877
GRCh38: 17:63941517-63941517
6 GH-LCR, SCN4A NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met) SNV Pathogenic
5904 rs121908547 GRCh37: 17:62021185-62021185
GRCh38: 17:63943825-63943825
7 GH-LCR, SCN4A NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met) SNV Pathogenic
5896 rs80338957 GRCh37: 17:62034787-62034787
GRCh38: 17:63957427-63957427
8 GH-LCR, SCN4A NM_000334.4(SCN4A):c.4774A>G (p.Met1592Val) SNV Pathogenic
5897 rs80338962 GRCh37: 17:62018868-62018868
GRCh38: 17:63941508-63941508
9 GH-LCR, SCN4A NM_000334.4(SCN4A):c.2411C>T (p.Ser804Phe) SNV Pathogenic
5901 rs121908546 GRCh37: 17:62029226-62029226
GRCh38: 17:63951866-63951866
10 GH-LCR, SCN4A NM_000334.4(SCN4A):c.3917G>C (p.Gly1306Ala) SNV Pathogenic
Likely Pathogenic
Not Provided
5908 rs80338792 GRCh37: 17:62021206-62021206
GRCh38: 17:63943846-63943846
11 GH-LCR, SCN4A NM_000334.4(SCN4A):c.3917G>A (p.Gly1306Glu) SNV Pathogenic
Pathogenic
5920 rs80338792 GRCh37: 17:62021206-62021206
GRCh38: 17:63943846-63943846
12 GH-LCR, SCN4A NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His) SNV Pathogenic
5899 rs121908545 GRCh37: 17:62019299-62019299
GRCh38: 17:63941939-63941939
13 SCN4A NM_000334.4(SCN4A):c.664C>T (p.Arg222Trp) SNV Likely Pathogenic
143199 rs527236148 GRCh37: 17:62048561-62048561
GRCh38: 17:63971201-63971201
14 GH-LCR, SCN4A NM_000334.4(SCN4A):c.4776G>A (p.Met1592Ile) SNV Likely Pathogenic
427072 rs886041805 GRCh37: 17:62018866-62018866
GRCh38: 17:63941506-63941506
15 GH-LCR, SCN4A NM_000334.4(SCN4A):c.*1572T>G SNV Uncertain Significance
324477 rs771871843 GRCh37: 17:62016559-62016559
GRCh38: 17:63939199-63939199
16 SCN4A NM_000334.4(SCN4A):c.-67G>A SNV Uncertain Significance
889026 rs191783461 GRCh37: 17:62050268-62050268
GRCh38: 17:63972908-63972908
17 SCN4A NM_000334.4(SCN4A):c.1356G>C (p.Glu452Asp) SNV Uncertain Significance
324543 rs749394640 GRCh37: 17:62041924-62041924
GRCh38: 17:63964564-63964564
18 GH-LCR, SCN4A NM_000334.4(SCN4A):c.2626G>A (p.Glu876Lys) SNV Uncertain Significance
324530 rs886053247 GRCh37: 17:62029011-62029011
GRCh38: 17:63951651-63951651
19 GH-LCR, SCN4A NM_000334.4(SCN4A):c.*2211C>T SNV Uncertain Significance
324463 rs886053237 GRCh37: 17:62015920-62015920
GRCh38: 17:63938560-63938560
20 GH-LCR, SCN4A NM_000334.4(SCN4A):c.2576G>A (p.Gly859Glu) SNV Uncertain Significance
324533 rs886053248 GRCh37: 17:62029061-62029061
GRCh38: 17:63951701-63951701
21 SCN4A NM_000334.4(SCN4A):c.-23G>T SNV Uncertain Significance
324556 rs747406998 GRCh37: 17:62050224-62050224
GRCh38: 17:63972864-63972864
22 GH-LCR, SCN4A NM_000334.4(SCN4A):c.*873G>C SNV Uncertain Significance
324492 rs540759411 GRCh37: 17:62017258-62017258
GRCh38: 17:63939898-63939898
23 GH-LCR, SCN4A NM_000334.4(SCN4A):c.5457C>T (p.Pro1819=) SNV Uncertain Significance
324505 rs761023866 GRCh37: 17:62018185-62018185
GRCh38: 17:63940825-63940825
24 GH-LCR, SCN4A NM_000334.4(SCN4A):c.2903C>A (p.Ala968Asp) SNV Uncertain Significance
1683503 GRCh37: 17:62026839-62026839
GRCh38: 17:63949479-63949479
25 RANBP2 NM_006267.5(RANBP2):c.2415A>C (p.Glu805Asp) SNV Uncertain Significance
1683638 GRCh37: 2:109371664-109371664
GRCh38: 2:108755208-108755208
26 GH-LCR, SCN4A NM_000334.4(SCN4A):c.4258G>A (p.Asp1420Asn) SNV Uncertain Significance
892408 rs1908587972 GRCh37: 17:62020216-62020216
GRCh38: 17:63942856-63942856
27 GH-LCR, SCN4A NM_000334.4(SCN4A):c.*64G>A SNV Uncertain Significance
892087 rs753971558 GRCh37: 17:62018067-62018067
GRCh38: 17:63940707-63940707
28 GH-LCR, SCN4A NM_000334.4(SCN4A):c.*1218G>A SNV Uncertain Significance
891903 rs908902727 GRCh37: 17:62016913-62016913
GRCh38: 17:63939553-63939553
29 GH-LCR, SCN4A NM_000334.4(SCN4A):c.4358C>T (p.Ala1453Val) SNV Uncertain Significance
888970 rs779470034 GRCh37: 17:62019284-62019284
GRCh38: 17:63941924-63941924
30 GH-LCR, SCN4A NM_000334.4(SCN4A):c.*203T>G SNV Uncertain Significance
888582 rs1908484940 GRCh37: 17:62017928-62017928
GRCh38: 17:63940568-63940568
31 SCN4A NM_000334.4(SCN4A):c.82A>C (p.Ile28Leu) SNV Uncertain Significance
Uncertain Significance
324554 rs886053250 GRCh37: 17:62050120-62050120
GRCh38: 17:63972760-63972760
32 GH-LCR, SCN4A NM_000334.4(SCN4A):c.2704G>A (p.Gly902Ser) SNV Uncertain Significance
Benign
543804 rs200517944 GRCh37: 17:62028933-62028933
GRCh38: 17:63951573-63951573
33 GH-LCR, SCN4A NM_000334.4(SCN4A):c.3004T>C (p.Trp1002Arg) SNV Uncertain Significance
579545 rs544082594 GRCh37: 17:62026111-62026111
GRCh38: 17:63948751-63948751
34 GH-LCR, SCN4A NM_000334.4(SCN4A):c.4222C>T (p.Arg1408Cys) SNV Uncertain Significance
568015 rs118047588 GRCh37: 17:62020252-62020252
GRCh38: 17:63942892-63942892
35 GH-LCR, SCN4A NM_000334.4(SCN4A):c.4609G>A (p.Gly1537Ser) SNV Uncertain Significance
222028 rs571210585 GRCh37: 17:62019033-62019033
GRCh38: 17:63941673-63941673
36 GH-LCR, SCN4A NM_000334.4(SCN4A):c.*1069G>A SNV Uncertain Significance
324489 rs368616841 GRCh37: 17:62017062-62017062
GRCh38: 17:63939702-63939702
37 GH-LCR, SCN4A NM_000334.4(SCN4A):c.*1890C>A SNV Uncertain Significance
324469 rs886053238 GRCh37: 17:62016241-62016241
GRCh38: 17:63938881-63938881
38 GH-LCR, SCN4A NM_000334.4(SCN4A):c.*394A>C SNV Uncertain Significance
324497 rs886053244 GRCh37: 17:62017737-62017737
GRCh38: 17:63940377-63940377
39 GH-LCR, SCN4A NM_000334.4(SCN4A):c.*1887A>G SNV Uncertain Significance
324470 rs749866237 GRCh37: 17:62016244-62016244
GRCh38: 17:63938884-63938884
40 GH-LCR, SCN4A NM_000334.4(SCN4A):c.*1875A>G SNV Uncertain Significance
324471 rs886053239 GRCh37: 17:62016256-62016256
GRCh38: 17:63938896-63938896
41 GH-LCR, SCN4A NM_000334.4(SCN4A):c.*1172G>A SNV Uncertain Significance
324487 rs540304010 GRCh37: 17:62016959-62016959
GRCh38: 17:63939599-63939599
42 SCN4A NM_000334.4(SCN4A):c.205G>A (p.Gly69Arg) SNV Uncertain Significance
324553 rs886053249 GRCh37: 17:62049997-62049997
GRCh38: 17:63972637-63972637
43 SCN4A NM_000334.4(SCN4A):c.858G>A (p.Pro286=) SNV Uncertain Significance
324549 rs560230431 GRCh37: 17:62045561-62045561
GRCh38: 17:63968201-63968201
44 GH-LCR, SCN4A NM_000334.4(SCN4A):c.4863C>T (p.Tyr1621=) SNV Uncertain Significance
324513 rs769625349 GRCh37: 17:62018779-62018779
GRCh38: 17:63941419-63941419
45 GH-LCR, SCN4A NM_000334.4(SCN4A):c.5482C>T (p.Arg1828Cys) SNV Uncertain Significance
Uncertain Significance
577832 rs758511540 GRCh37: 17:62018160-62018160
GRCh38: 17:63940800-63940800
46 GH-LCR, SCN4A NM_000334.4(SCN4A):c.4429A>G (p.Met1477Val) SNV Uncertain Significance
543806 rs1465376529 GRCh37: 17:62019213-62019213
GRCh38: 17:63941853-63941853
47 GH-LCR, SCN4A NM_000334.4(SCN4A):c.2468A>C (p.Gln823Pro) SNV Uncertain Significance
582148 rs753182664 GRCh37: 17:62029169-62029169
GRCh38: 17:63951809-63951809
48 SCN4A NM_000334.4(SCN4A):c.1139G>A (p.Arg380Gln) SNV Uncertain Significance
570912 rs374446143 GRCh37: 17:62043565-62043565
GRCh38: 17:63966205-63966205
49 SCN4A NM_000334.4(SCN4A):c.1018G>A (p.Ala340Thr) SNV Uncertain Significance
Benign
429845 rs147936148 GRCh37: 17:62045401-62045401
GRCh38: 17:63968041-63968041
50 SCN4A NM_000334.4(SCN4A):c.845G>A (p.Arg282His) SNV Uncertain Significance
579612 rs200615763 GRCh37: 17:62045574-62045574
GRCh38: 17:63968214-63968214

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 rs1567817380
13 SCN4A p.Met1476Ile VAR_054950 rs121908559
14 SCN4A p.Ala1481Asp VAR_054951 rs763893717
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

Sources for Myotonia, Potassium-Aggravated

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18 FMA
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44 MESH via Orphanet
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50 NDF-RT
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56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
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64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
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72 UMLS via Orphanet
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