PMC
MCID: PRM057
MIFTS: 58

Paramyotonia Congenita of Von Eulenburg (PMC)

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

Aliases & Classifications for Paramyotonia Congenita of Von Eulenburg

MalaCards integrated aliases for Paramyotonia Congenita of Von Eulenburg:

Name: Paramyotonia Congenita of Von Eulenburg 57 12 73 20 43 58 72 29 6 15 39
Paramyotonia Congenita 57 12 73 20 43 58 36 13 54 70
Pmc 57 12 20 43 72
Paralysis Periodica Paramyotonica 57 12 20 72
Eulenburg Disease 12 20 43
Von Eulenburg Paramyotonia Congenita 12 20
Paralysis Periodica Paramyotonia 43 72
Myotonia Congenita Intermittens 12 20
Paramyotonia Congenita Without Cold Paralysis 72
Von Eulenberg's Disease 43

Characteristics:

Orphanet epidemiological data:

58
paramyotonia congenita of von eulenburg
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
onset in infancy or early childhood
affected females report aggravation of symptoms during menstrual periods and pregnancy, with alleviation after menopause
some patients may present with transient neonatal hypotonia, and then later develop classic pmc in childhood
alcohol may alleviate symptoms
patients may have a combination phenotype of pmc and hypp (see )
allelic disorder to hyperkalemic periodic paralysis (hypp, )
allelic disorder to potassium-aggravated myotonia
allelic disorder to hypokalemic periodic paralysis (hokpp, )


HPO:

31
paramyotonia congenita of von eulenburg:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0111538
OMIM® 57 168300
KEGG 36 H00743
MeSH 44 D020967
NCIt 50 C122790
SNOMED-CT 67 41574007
ICD10 32 G71.19
MESH via Orphanet 45 C538616
ICD10 via Orphanet 33 G71.1
UMLS via Orphanet 71 C0221055 C1868617
Orphanet 58 ORPHA684
UMLS 70 C0221055

Summaries for Paramyotonia Congenita of Von Eulenburg

MedlinePlus Genetics : 43 Paramyotonia congenita is a disorder that affects muscles used for movement (skeletal muscles). Beginning in infancy or early childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. Myotonia causes muscle stiffness that typically appears after exercise and can be induced by muscle cooling. This stiffness chiefly affects muscles in the face, neck, arms, and hands, although it can also affect muscles used for breathing and muscles in the lower body. Unlike many other forms of myotonia, the muscle stiffness associated with paramyotonia congenita tends to worsen with repeated movements.Most people—even those without muscle disease—feel that their muscles do not work as well when they are cold. This effect is dramatic in people with paramyotonia congenita. Exposure to cold initially causes muscle stiffness in these individuals, and prolonged cold exposure leads to temporary episodes of mild to severe muscle weakness that may last for several hours at a time. Some older people with paramyotonia congenita develop permanent muscle weakness that can be disabling.

MalaCards based summary : Paramyotonia Congenita of Von Eulenburg, also known as paramyotonia congenita, is related to myotonia congenita and myotonia, and has symptoms including myalgia and muscular stiffness. An important gene associated with Paramyotonia Congenita of Von Eulenburg is SCN4A (Sodium Voltage-Gated Channel Alpha Subunit 4), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Developmental Biology. The drugs Mexiletine and Sodium Channel Blockers have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, tongue and brain, and related phenotypes are dysphagia and neonatal hypotonia

Disease Ontology : 12 A neuromuscular disease characterized by onset in infancy or early childhood of bouts of myotonia and muscle weakness that are increased by cold exposure that has material basis in heterozygous mutation in SCN4A on chromosome 17q23.3.

GARD : 20 Paramyotonia congenita is an inherited condition that affects muscles used for movement ( skeletal muscles ), mainly in the face, neck, arms, and hands. Symptoms begin in infancy or early childhood and include episodes of sustained muscle tensing ( myotonia ) that prevent muscles from relaxing normally and lead to muscle weakness. Symptoms in paramyotonia congenita worsen during exposure to cold temperatures, and unlike many other forms of myotonia, worsen with exercise and repeated movements. This condition is caused by mutations in the SCN4A gene and is inherited in an autosomal dominant pattern.

KEGG : 36 Paramyotonia congenita (PMC), which is also known as Eulenburg's disease, is an autosomal dominant inherited disease whose predominant feature is an episodic cold- or exercise-induced muscle myotonia in exposed areas (mainly the face, neck, and hands) that lasts for minutes to hours. The disease may also progress later in life, with stiffness giving way to flaccid paralysis and weakness in exposed or exercised muscles. It is caused by mutations in the sodium channel gene SCN4A.

UniProtKB/Swiss-Prot : 72 Paramyotonia congenita of von Eulenburg: An autosomal dominant channelopathy characterized by myotonia, increased by exposure to cold, intermittent flaccid paresis, not necessarily dependent on cold or myotonia, lability of serum potassium, non-progressive nature and lack of atrophy or hypertrophy of muscles. In some patients, myotonia is not increased by cold exposure (paramyotonia without cold paralysis). Patients may have a combination phenotype of PMC and HYPP.

Wikipedia : 73 Paramyotonia congenita (PC), is a rare congenital autosomal dominant neuromuscular disorder... more...

More information from OMIM: 168300

Related Diseases for Paramyotonia Congenita of Von Eulenburg

Diseases related to Paramyotonia Congenita of Von Eulenburg via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 148)
# Related Disease Score Top Affiliating Genes
1 myotonia congenita 31.4 SCN4A KCNJ2 GH-LCR CLCN1 CACNA1S
2 myotonia 31.2 SCN4A GH-LCR CLCN1
3 periodic paralyses 31.0 SCN4A KCNJ2 KCNE3 GH-LCR CACNA1S
4 periodic paralysis 30.9 SCN4A KCNJ2 KCNJ18 KCNE3 CACNA1S
5 graves disease 1 30.8 SCN4A KCNJ18 CACNA1S
6 hypokalemia 30.8 SCN4A KCNJ18 CACNA1S
7 hypokalemic periodic paralysis, type 2 30.7 SCN4A GH-LCR
8 malignant hyperthermia 30.5 SCN5A SCN4A CACNA1S
9 hypokalemic periodic paralysis, type 1 30.3 SCN5A SCN4A SCN2A NAV1 KCNJ2 KCNJ18
10 episodic ataxia 30.2 SCN8A SCN4A SCN2A SCN1A GH-LCR CACNA1S
11 neuromuscular disease 30.2 SCN5A SCN4A CLCN1 CHRNE CHRND CACNA1S
12 familial periodic paralysis 30.0 SCN5A SCN4A SCN2A NAV1 KCNJ2 KCNJ18
13 hyperkalemic periodic paralysis 29.8 SCN9A SCN8A SCN5A SCN4A SCN2A SCN1A
14 nondystrophic myotonia 11.2
15 myotonia congenita, autosomal dominant 10.9
16 myotonia, potassium-aggravated 10.5
17 normokalemic periodic paralysis 10.5 SCN4A GH-LCR
18 neuropathy, hereditary sensory and autonomic, type vii 10.4 SCN4A CACNA1S
19 central nervous system origin vertigo 10.4 SCN2A CLCN1
20 brugada syndrome 6 10.4 SCN5A KCNE3
21 episodic pain syndrome, familial, 3 10.4 SCN9A NAV1
22 thyrotoxic periodic paralysis 1 10.4 KCNJ18 CACNA1S
23 first-degree atrioventricular block 10.4 SCN5A KCNJ2
24 long qt syndrome 14 10.4 SCN5A KCNJ2
25 long qt syndrome 10 10.4 SCN5A KCNJ2
26 febrile seizures, familial, 5 10.4 SCN2A SCN1A
27 reflex epilepsy 10.4 SCN2A SCN1A
28 myoclonic epilepsy of infancy 10.4 SCN8A SCN1A
29 isolated elevated serum creatine phosphokinase levels 10.4 SCN5A SCN4A CLCN1
30 febrile seizures, familial, 2 10.4 SCN2A SCN1A
31 timothy syndrome 10.4 SCN5A KCNJ2 CACNA1S
32 long qt syndrome 13 10.4 SCN5A KCNJ2
33 metal metabolism disorder 10.4 SCN4A KCNJ18 CACNA1S
34 early onset absence epilepsy 10.4 SCN2A SCN1A
35 headache 10.4 SCN1A CLCN1 CACNA1S
36 muscular disease 10.4
37 myopathy 10.4
38 long qt syndrome 5 10.4 SCN5A KCNJ2 KCNE3
39 familial hemiplegic migraine 10.4 SCN5A SCN1A CACNA1S
40 long qt syndrome 6 10.4 SCN5A KCNJ2 KCNE3
41 genetic epilepsy with febrile seizures plus 10.4 SCN9A SCN2A SCN1A
42 spondylometaphyseal dysplasia, kozlowski type 10.4 SCN9A KCNJ18
43 myasthenic syndrome, congenital, 1b, fast-channel 10.4 CHRNE CHRND
44 spondyloepiphyseal dysplasia, maroteaux type 10.4 SCN9A KCNJ18
45 febrile seizures, familial, 1 10.3 SCN9A SCN2A SCN1A
46 slow-channel congenital myasthenic syndrome 10.3 CHRNE CHRND
47 short qt syndrome 10.3 SCN5A KCNJ2 KCNE3
48 jervell and lange-nielsen syndrome 1 10.3 SCN5A KCNJ2 KCNE3
49 myasthenic syndrome, congenital, 16 10.3 SCN4A GH-LCR
50 epilepsy, familial temporal lobe, 5 10.3 SCN9A SCN1A

Graphical network of the top 20 diseases related to Paramyotonia Congenita of Von Eulenburg:



Diseases related to Paramyotonia Congenita of Von Eulenburg

Symptoms & Phenotypes for Paramyotonia Congenita of Von Eulenburg

Human phenotypes related to Paramyotonia Congenita of Von Eulenburg:

58 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
2 neonatal hypotonia 58 31 occasional (7.5%) Frequent (79-30%) HP:0001319
3 muscle stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0003552
4 myalgia 58 31 frequent (33%) Frequent (79-30%) HP:0003326
5 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
6 cold paresis 58 31 frequent (33%) Frequent (79-30%) HP:0031372
7 handgrip myotonia 58 31 frequent (33%) Frequent (79-30%) HP:0012899
8 percussion myotonia 58 31 frequent (33%) Frequent (79-30%) HP:0010548
9 neonatal inspiratory stridor 58 31 frequent (33%) Frequent (79-30%) HP:0004875
10 paradoxical myotonia 58 31 frequent (33%) Frequent (79-30%) HP:0011809
11 facial muscle hypertrophy 58 31 frequent (33%) Frequent (79-30%) HP:0012892
12 myotonia of the face 58 31 frequent (33%) Frequent (79-30%) HP:0012900
13 myotonia of the jaw 58 31 frequent (33%) Frequent (79-30%) HP:0012901
14 myotonia of the upper limb 58 31 frequent (33%) Frequent (79-30%) HP:0012903
15 cold-sensitive myotonia 58 31 frequent (33%) Frequent (79-30%) HP:0012904
16 emg: myopathic abnormalities 58 31 occasional (7.5%) Occasional (29-5%) HP:0003458
17 periodic hypokalemic paresis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008153
18 abnormal blood potassium concentration 31 occasional (7.5%) HP:0011042
19 muscle weakness 31 HP:0001324
20 myotonia 58 Frequent (79-30%)
21 skeletal muscle hypertrophy 31 HP:0003712
22 inspiratory stridor 31 HP:0005348
23 abnormality of potassium homeostasis 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Muscle Soft Tissue:
muscle stiffness
percussion myotonia
muscle pain
muscle hypertrophy
myotonia, cold-sensitive, predominantly of face, tongue, forearm, and hand precipitated by muscle cooling or cold exposure or rest after exercise
more
Abdomen Gastrointestinal:
poor feeding in early life

Respiratory:
inspiratory stridor in early life

Clinical features from OMIM®:

168300 (Updated 05-Apr-2021)

UMLS symptoms related to Paramyotonia Congenita of Von Eulenburg:


myalgia; muscular stiffness

MGI Mouse Phenotypes related to Paramyotonia Congenita of Von Eulenburg:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.5 CACNA1S CHRNE CLCN1 KCNJ2 SCN4A SCN5A
2 respiratory system MP:0005388 9.28 CACNA1S CHRNE KCNE3 KCNJ2 SCN1A SCN2A

Drugs & Therapeutics for Paramyotonia Congenita of Von Eulenburg

Drugs for Paramyotonia Congenita of Von Eulenburg (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mexiletine Approved, Investigational Phase 3 31828-71-4 4178
2 Sodium Channel Blockers Phase 3
3 Diuretics, Potassium Sparing Phase 3
4 Anti-Arrhythmia Agents Phase 3
5
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 Open Label Trial of Ranolazine in Myotonia Congenita, Paramyotonia Congenita, & Myotonic Dystrophy Type 1 Completed NCT02251457 Phase 1 Ranolazine
3 Using MRI to Quantify Fatty Infiltration in Muscle Tissue, and Compare it to Isometric Muscle Strength Measurements and (2) Use Questionnaires, Systemic Interview and Simple Myotonic Bed-side Tests to Describe the Phenotype. Recruiting NCT04808388

Search NIH Clinical Center for Paramyotonia Congenita of Von Eulenburg

Genetic Tests for Paramyotonia Congenita of Von Eulenburg

Genetic tests related to Paramyotonia Congenita of Von Eulenburg:

# Genetic test Affiliating Genes
1 Paramyotonia Congenita of Von Eulenburg 29 SCN4A

Anatomical Context for Paramyotonia Congenita of Von Eulenburg

MalaCards organs/tissues related to Paramyotonia Congenita of Von Eulenburg:

40
Skeletal Muscle, Tongue, Brain

Publications for Paramyotonia Congenita of Von Eulenburg

Articles related to Paramyotonia Congenita of Von Eulenburg:

(show top 50) (show all 295)
# Title Authors PMID Year
1
A novel mutation in the gene for the adult skeletal muscle sodium channel alpha-subunit (SCN4A) that causes paramyotonia congenita of von Eulenburg. 57 6 54 61
10369308 1999
2
Paramyotonia congenita without paralysis on exposure to cold: a novel mutation in the SCN4A gene (Val1293Ile). 61 57 6 54
8580427 1995
3
Stridor as a neonatal presentation of skeletal muscle sodium channelopathy. 57 6 61
21220685 2011
4
Clinical, electrophysiological, and molecular genetic studies in a new family with paramyotonia congenita. 61 6 57
10727489 2000
5
Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita. 61 57 6
1316765 1992
6
Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita. 6 57 61
1310898 1992
7
Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians. 57 6
18337100 2009
8
Neonatal hypotonia can be a sodium channelopathy: recognition of a new phenotype. 6 57
19015492 2008
9
A novel dominant mutation of the Nav1.4 alpha-subunit domain I leading to sodium channel myotonia. 6 57
19015483 2008
10
A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians. 57 6
17998485 2007
11
Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene. 54 61 57
18203179 2008
12
Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A. 61 54 57
12933953 2003
13
Molecular and genetic characterisation of German families with paramyotonia congenita and demonstration of founder effect in the Ravensberg families. 61 54 6
8005599 1994
14
Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel. 57 54 61
1338909 1992
15
Correlating phenotype and genotype in the periodic paralyses. 61 57
15534250 2004
16
Paramyotonia congenita and hyperkalemic periodic paralysis associated with a Met 1592 Val substitution in the skeletal muscle sodium channel alpha subunit--a large kindred with a novel phenotype. 61 57
9131651 1997
17
A skeletal muscle sodium channel mutation in a Japanese family with paramyotonia congenita. 6 61
8583225 1995
18
Muscle sodium channel inactivation defect in paramyotonia congenita with the thr1313met mutation. 61 6
7533571 1994
19
Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis. 61 6
8388676 1993
20
Paramyotonia congenita (Eulenburg): clinical, neurophysiological and muscle biopsy observations in a Swedish family. 61 57
8424309 1993
21
Linkage data suggesting allelic heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17. 57 61
1660029 1991
22
Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus. 57 61
1654742 1991
23
Linkage studies of Myotonia congenita and Paramyotonia congenita. 61 57
2766573 1989
24
Paramyotonia congenita and myotonic dystrophy are not allelic disorders. 57 61
2776487 1989
25
Muscle stiffness and electrical activity in paramyotonia congenita. 61 57
3713735 1986
26
Paramyotonia congenita without cold paralysis and myotonia levoir. A genetic and clinical study. 57 61
852462 1977
27
Paramyotonia congenita: a clinical, histochemical and pathological study. 61 57
4655280 1972
28
Paramyotonia congenita: an electrophysiological study. 61 57
4655281 1972
29
Paramyotonia congenita. Association with cutaneous cold sensitivity and description of peculiar sustained postures after muscle contraction. 61 57
5935953 1966
30
Paramyotonia congenita, clinical features and electromyographic findings. 61 57
13758355 1961
31
Paramyotonia congenita. 61 57
13544644 1958
32
Cold extends electromyography distinction between ion channel mutations causing myotonia. 57
16786525 2006
33
Familial cramp due to potassium-aggravated myotonia. 6
9771789 1998
34
Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker. 6
8308722 1993
35
A novel SCN4A mutation causing myotonia aggravated by cold and potassium. 6
8242056 1993
36
Non-dystrophic myotonias and periodic paralyses. A European Neuromuscular Center Workshop held 4-6 October 1992, Ulm, Germany. 57
7689382 1993
37
A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis. 57
1659668 1991
38
Von Eulenberg's paramyotonia. A clinical study of restricted myotonia and episodic paralysis successfully controlled by chlorothiazide. 57
5828532 1964
39
PROGRESSIVE NEUROLOGICAL DISORDER AND MYOTONIA CONGENITA ASSOCIATED WITH PARAMYOTONIA. 57
14090531 1963
40
A patient with episodic ataxia and paramyotonia congenita due to mutations in KCNA1 and SCN4A. 54 61
19770477 2009
41
What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed. 54 61
18166706 2008
42
Genotype-phenotype correlation and therapeutic rationale in hyperkalemic periodic paralysis. 54 61
17395131 2007
43
A new case of autosomal dominant myotonia associated with the V1589M missense mutation in the muscle sodium channel gene and its phenotypic classification. 61 54
16624558 2006
44
Functional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humans. 61 54
14617673 2004
45
Muscle biopsy and cell cultures: potential diagnostic tools in hereditary skeletal muscle channelopathies. 54 61
12685554 2003
46
Paramyotonia congenita with an SCN4A mutation affecting cardiac repolarization. 61 54
12552059 2003
47
Activation and inactivation of the voltage-gated sodium channel: role of segment S5 revealed by a novel hyperkalaemic periodic paralysis mutation. 61 54
10366610 1999
48
[Familial hyperkalemic periodic paralysis: a brief review of the adult human skeletal muscle sodium channel and the application of LA-PCR to the SCN4A gene analysis]. 61 54
9436446 1997
49
C4342T-mutation in the SCN4A gene on chromosome 17q in a Swedish family with paramyotonia congenita (Eulenburg)--correlations with clinical, neurophysiological and muscle biopsy data. 61 54
9196904 1997
50
[A Japanese family with paramyotonia congenita which has a mutation in the muscle sodium channel gene]. 61 54
8665733 1995

Variations for Paramyotonia Congenita of Von Eulenburg

ClinVar genetic disease variations for Paramyotonia Congenita of Von Eulenburg:

6 (show top 50) (show all 251)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GH-LCR , SCN4A NM_000334.4(SCN4A):c.4298T>G (p.Leu1433Arg) SNV Pathogenic 5907 rs121908550 GRCh37: 17:62019344-62019344
GRCh38: 17:63941984-63941984
2 GH-LCR , SCN4A NM_000334.4(SCN4A):c.4367G>A (p.Gly1456Glu) SNV Pathogenic 5915 rs121908554 GRCh37: 17:62019275-62019275
GRCh38: 17:63941915-63941915
3 SCN4A NM_000334.4(SCN4A):c.421A>G (p.Ile141Val) SNV Pathogenic 5924 rs121908561 GRCh37: 17:62049557-62049557
GRCh38: 17:63972197-63972197
4 GH-LCR , SCN4A NM_000334.4(SCN4A):c.4428G>A (p.Met1476Ile) SNV Pathogenic 5921 rs121908559 GRCh37: 17:62019214-62019214
GRCh38: 17:63941854-63941854
5 GH-LCR , SCN4A NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met) SNV Pathogenic 5904 rs121908547 GRCh37: 17:62021185-62021185
GRCh38: 17:63943825-63943825
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 SCN4A NM_000334.4(SCN4A):c.1333G>A (p.Val445Met) SNV Pathogenic 5910 rs121908552 GRCh37: 17:62041947-62041947
GRCh38: 17:63964587-63964587
8 GH-LCR , SCN4A NM_000334.4(SCN4A):c.3917G>T (p.Gly1306Val) SNV Pathogenic 5903 rs80338792 GRCh37: 17:62021206-62021206
GRCh38: 17:63943846-63943846
9 GH-LCR , SCN4A NM_000334.4(SCN4A):c.4765G>A (p.Val1589Met) SNV Pathogenic 5905 rs121908548 GRCh37: 17:62018877-62018877
GRCh38: 17:63941517-63941517
10 GH-LCR , SCN4A NM_000334.4(SCN4A):c.3877G>A (p.Val1293Ile) SNV Pathogenic 5909 rs121908551 GRCh37: 17:62022068-62022068
GRCh38: 17:63944708-63944708
11 GH-LCR , SCN4A NM_000334.4(SCN4A):c.4342C>T (p.Arg1448Cys) SNV Pathogenic 5898 rs121908544 GRCh37: 17:62019300-62019300
GRCh38: 17:63941940-63941940
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 GH-LCR , SCN4A NM_000334.4(SCN4A):c.2078T>C (p.Ile693Thr) SNV Pathogenic 5923 rs80338956 GRCh37: 17:62034820-62034820
GRCh38: 17:63957460-63957460
14 GH-LCR , SCN4A NM_000334.4(SCN4A):c.4774A>G (p.Met1592Val) SNV Pathogenic 5897 rs80338962 GRCh37: 17:62018868-62018868
GRCh38: 17:63941508-63941508
15 GH-LCR , SCN4A NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met) SNV Pathogenic 5896 rs80338957 GRCh37: 17:62034787-62034787
GRCh38: 17:63957427-63957427
16 GH-LCR , SCN4A NM_000334.4(SCN4A):c.2023C>T (p.Arg675Trp) SNV Pathogenic 5902 rs121908556 GRCh37: 17:62034875-62034875
GRCh38: 17:63957515-63957515
17 SCN4A NM_000334.4(SCN4A):c.664C>T (p.Arg222Trp) SNV Likely pathogenic 143199 rs527236148 GRCh37: 17:62048561-62048561
GRCh38: 17:63971201-63971201
18 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
19 GH-LCR , SCN4A NM_000334.4(SCN4A):c.3386G>A (p.Arg1129Gln) SNV Conflicting interpretations of pathogenicity 143200 rs527236149 GRCh37: 17:62024460-62024460
GRCh38: 17:63947100-63947100
20 SCN4A NM_000334.4(SCN4A):c.1796A>G (p.His599Arg) SNV Conflicting interpretations of pathogenicity 324537 rs187401185 GRCh37: 17:62038602-62038602
GRCh38: 17:63961242-63961242
21 SCN4A NM_000334.4(SCN4A):c.95C>A (p.Ala32Glu) SNV Uncertain significance 860459 GRCh37: 17:62050107-62050107
GRCh38: 17:63972747-63972747
22 SCN4A NM_000334.4(SCN4A):c.1575C>T (p.Ser525=) SNV Uncertain significance 890240 GRCh37: 17:62041063-62041063
GRCh38: 17:63963703-63963703
23 SCN4A NM_000334.4(SCN4A):c.205G>A (p.Gly69Arg) SNV Uncertain significance 324553 rs886053249 GRCh37: 17:62049997-62049997
GRCh38: 17:63972637-63972637
24 SCN4A NM_000334.4(SCN4A):c.364C>T (p.Arg122Cys) SNV Uncertain significance 324551 rs150158100 GRCh37: 17:62049740-62049740
GRCh38: 17:63972380-63972380
25 SCN4A NM_000334.4(SCN4A):c.553G>A (p.Asp185Asn) SNV Uncertain significance 197134 rs778661227 GRCh37: 17:62049140-62049140
GRCh38: 17:63971780-63971780
26 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
27 GH-LCR , SCN4A NM_000334.4(SCN4A):c.2704G>A (p.Gly902Ser) SNV Uncertain significance 543804 rs200517944 GRCh37: 17:62028933-62028933
GRCh38: 17:63951573-63951573
28 SCN4A NM_000334.4(SCN4A):c.1018G>A (p.Ala340Thr) SNV Uncertain significance 429845 rs147936148 GRCh37: 17:62045401-62045401
GRCh38: 17:63968041-63968041
29 SCN4A NM_000334.4(SCN4A):c.82A>C (p.Ile28Leu) SNV Uncertain significance 324554 rs886053250 GRCh37: 17:62050120-62050120
GRCh38: 17:63972760-63972760
30 GH-LCR , SCN4A NM_000334.4(SCN4A):c.4258G>A (p.Asp1420Asn) SNV Uncertain significance 892408 GRCh37: 17:62020216-62020216
GRCh38: 17:63942856-63942856
31 SCN4A NM_000334.4(SCN4A):c.1139G>A (p.Arg380Gln) SNV Uncertain significance 570912 rs374446143 GRCh37: 17:62043565-62043565
GRCh38: 17:63966205-63966205
32 SCN4A NM_000334.4(SCN4A):c.82A>C (p.Ile28Leu) SNV Uncertain significance 324554 rs886053250 GRCh37: 17:62050120-62050120
GRCh38: 17:63972760-63972760
33 GH-LCR , SCN4A NM_000334.4(SCN4A):c.5405G>A (p.Gly1802Glu) SNV Uncertain significance 569570 rs749251685 GRCh37: 17:62018237-62018237
GRCh38: 17:63940877-63940877
34 GH-LCR , SCN4A NM_000334.4(SCN4A):c.5148G>A (p.Glu1716=) SNV Uncertain significance 543824 rs1244264430 GRCh37: 17:62018494-62018494
GRCh38: 17:63941134-63941134
35 SCN4A NM_000334.4(SCN4A):c.527T>C (p.Ile176Thr) SNV Uncertain significance 891020 GRCh37: 17:62049166-62049166
GRCh38: 17:63971806-63971806
36 SCN4A NM_000334.4(SCN4A):c.387C>G (p.Ile129Met) SNV Uncertain significance 891103 GRCh37: 17:62049717-62049717
GRCh38: 17:63972357-63972357
37 SCN4A NM_000334.4(SCN4A):c.219G>A (p.Pro73=) SNV Uncertain significance 586509 rs779890709 GRCh37: 17:62049983-62049983
GRCh38: 17:63972623-63972623
38 GH-LCR , SCN4A NM_000334.4(SCN4A):c.*2085C>G SNV Uncertain significance 889900 GRCh37: 17:62016046-62016046
GRCh38: 17:63938686-63938686
39 GH-LCR , SCN4A NM_000334.4(SCN4A):c.*1497C>T SNV Uncertain significance 890025 GRCh37: 17:62016634-62016634
GRCh38: 17:63939274-63939274
40 GH-LCR , SCN4A NM_000334.4(SCN4A):c.*1218G>A SNV Uncertain significance 891903 GRCh37: 17:62016913-62016913
GRCh38: 17:63939553-63939553
41 GH-LCR , SCN4A NM_000334.4(SCN4A):c.2612G>A (p.Gly871Glu) SNV Uncertain significance 890663 GRCh37: 17:62029025-62029025
GRCh38: 17:63951665-63951665
42 SCN4A NM_000334.4(SCN4A):c.1560G>C (p.Pro520=) SNV Uncertain significance 892046 GRCh37: 17:62041078-62041078
GRCh38: 17:63963718-63963718
43 GH-LCR , SCN4A NM_000334.4(SCN4A):c.*64G>A SNV Uncertain significance 892087 GRCh37: 17:62018067-62018067
GRCh38: 17:63940707-63940707
44 SCN4A NM_000334.4(SCN4A):c.1299G>A (p.Leu433=) SNV Uncertain significance 646209 rs759176062 GRCh37: 17:62041981-62041981
GRCh38: 17:63964621-63964621
45 GH-LCR , SCN4A NM_000334.4(SCN4A):c.5482C>T (p.Arg1828Cys) SNV 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.4222C>T (p.Arg1408Cys) SNV Uncertain significance 568015 rs118047588 GRCh37: 17:62020252-62020252
GRCh38: 17:63942892-63942892
48 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
49 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
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 Paramyotonia Congenita of Von Eulenburg:

72 (show all 20)
# Symbol AA change Variation ID SNP ID
1 SCN4A p.Thr704Met VAR_001562 rs80338957
2 SCN4A p.Ser804Phe VAR_001563 rs121908546
3 SCN4A p.Ala1156Thr VAR_001565 rs80338958
4 SCN4A p.Val1293Ile VAR_001566 rs121908551
5 SCN4A p.Gly1306Ala VAR_001567 rs80338792
6 SCN4A p.Gly1306Glu VAR_001568 rs80338792
7 SCN4A p.Gly1306Val VAR_001569 rs80338792
8 SCN4A p.Thr1313Met VAR_001570 rs121908547
9 SCN4A p.Leu1433Arg VAR_001571 rs121908550
10 SCN4A p.Arg1448Cys VAR_001572 rs121908544
11 SCN4A p.Arg1448His VAR_001573 rs121908545
12 SCN4A p.Val1589Met VAR_001574 rs121908548
13 SCN4A p.Ala1152Asp VAR_022341
14 SCN4A p.Gly1456Glu VAR_037107 rs121908554
15 SCN4A p.Gln270Lys VAR_054936
16 SCN4A p.Leu1436Pro VAR_054947
17 SCN4A p.Arg1448Leu VAR_054948 rs121908545
18 SCN4A p.Phe1473Ser VAR_054949
19 SCN4A p.Phe1705Ile VAR_054952 rs106479424
20 SCN4A p.Ile693Thr VAR_065231 rs80338956

Expression for Paramyotonia Congenita of Von Eulenburg

Search GEO for disease gene expression data for Paramyotonia Congenita of Von Eulenburg.

Pathways for Paramyotonia Congenita of Von Eulenburg

Pathways related to Paramyotonia Congenita of Von Eulenburg according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.33 SCN9A SCN8A SCN5A SCN4A SCN2A SCN1A
2
Show member pathways
13.25 SCN9A SCN8A SCN5A SCN4A SCN2A SCN1A
3
Show member pathways
12.85 SCN9A SCN8A SCN5A SCN4A SCN2A SCN1A
4
Show member pathways
12.54 SCN9A SCN8A SCN5A SCN4A SCN2A SCN1A
5
Show member pathways
12.46 SCN9A SCN8A SCN5A SCN4A SCN2A SCN1A
6 12.42 SCN9A SCN8A SCN5A SCN4A SCN2A SCN1A
7
Show member pathways
11.83 SCN9A SCN8A SCN5A SCN4A SCN2A SCN1A
8 11.38 SCN5A KCNJ2 KCNE3
9
Show member pathways
11.1 SCN9A SCN8A SCN5A SCN4A SCN2A SCN1A
10 10.91 SCN9A SCN8A SCN5A SCN4A SCN2A SCN1A
11 10.62 CHRNE CHRND CACNA1S

GO Terms for Paramyotonia Congenita of Von Eulenburg

Cellular components related to Paramyotonia Congenita of Von Eulenburg according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10.27 SCN9A SCN8A SCN5A SCN4A SCN2A SCN1A
2 plasma membrane GO:0005886 10.22 SCN9A SCN8A SCN5A SCN4A SCN2A SCN1A
3 integral component of plasma membrane GO:0005887 10.02 SCN9A SCN4A SCN2A KCNJ2 CLCN1 CHRNE
4 axon GO:0030424 9.77 SCN9A SCN8A SCN4A SCN2A SCN1A
5 Z disc GO:0030018 9.69 SCN8A SCN5A SCN1A
6 axon initial segment GO:0043194 9.5 SCN8A SCN1A NAV1
7 acetylcholine-gated channel complex GO:0005892 9.49 CHRNE CHRND
8 intercalated disc GO:0014704 9.46 SCN5A SCN2A SCN1A KCNJ2
9 sodium channel complex GO:0034706 9.43 SCN2A SCN1A
10 node of Ranvier GO:0033268 9.43 SCN8A SCN2A SCN1A
11 T-tubule GO:0030315 9.35 SCN5A SCN2A SCN1A KCNJ2 CACNA1S
12 voltage-gated sodium channel complex GO:0001518 9.1 SCN9A SCN8A SCN5A SCN4A SCN2A SCN1A

Biological processes related to Paramyotonia Congenita of Von Eulenburg according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 10.06 SCN9A SCN8A SCN5A SCN4A SCN2A SCN1A
2 ion transmembrane transport GO:0034220 9.97 SCN9A SCN8A SCN5A SCN2A SCN1A CLCN1
3 sodium ion transport GO:0006814 9.91 SCN9A SCN8A SCN5A SCN4A SCN2A SCN1A
4 muscle contraction GO:0006936 9.88 SCN4A CLCN1 CHRNE CHRND CACNA1S
5 sodium ion transmembrane transport GO:0035725 9.88 SCN9A SCN8A SCN5A SCN4A SCN2A SCN1A
6 cation transmembrane transport GO:0098655 9.8 SCN9A SCN8A SCN5A SCN2A SCN1A CHRNE
7 ion transport GO:0006811 9.77 SCN9A SCN8A SCN5A SCN4A SCN2A SCN1A
8 regulation of membrane potential GO:0042391 9.75 SCN1A CHRNE CHRND
9 neuronal action potential GO:0019228 9.73 SCN9A SCN8A SCN5A SCN4A SCN2A SCN1A
10 cardiac conduction GO:0061337 9.7 SCN5A KCNJ2 CACNA1S
11 regulation of heart rate by cardiac conduction GO:0086091 9.69 SCN5A KCNJ2 KCNE3
12 cardiac muscle cell action potential involved in contraction GO:0086002 9.67 SCN5A SCN1A KCNJ2
13 membrane depolarization during action potential GO:0086010 9.63 SCN9A SCN8A SCN5A SCN4A SCN2A SCN1A
14 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.59 SCN5A KCNE3
15 ventricular cardiac muscle cell action potential GO:0086005 9.58 SCN5A KCNE3
16 regulation of cardiac muscle cell contraction GO:0086004 9.57 SCN5A KCNJ2
17 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.56 SCN5A KCNJ2
18 membrane repolarization during action potential GO:0086011 9.55 KCNJ2 KCNE3
19 neuronal action potential propagation GO:0019227 9.54 SCN1A CLCN1
20 regulation of ion transmembrane transport GO:0034765 9.36 SCN9A SCN8A SCN5A SCN4A SCN2A SCN1A

Molecular functions related to Paramyotonia Congenita of Von Eulenburg according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cation channel activity GO:0005261 9.8 SCN9A SCN8A SCN5A SCN4A SCN2A SCN1A
2 sodium channel activity GO:0005272 9.73 SCN9A SCN8A SCN5A SCN4A SCN2A SCN1A
3 voltage-gated sodium channel activity GO:0005248 9.63 SCN9A SCN8A SCN5A SCN4A SCN2A SCN1A
4 ion channel activity GO:0005216 9.61 SCN9A SCN8A SCN5A SCN4A SCN2A SCN1A
5 inward rectifier potassium channel activity GO:0005242 9.4 KCNJ2 KCNJ18
6 acetylcholine-gated cation-selective channel activity GO:0022848 9.37 CHRNE CHRND
7 voltage-gated ion channel activity GO:0005244 9.36 SCN9A SCN8A SCN5A SCN4A SCN2A SCN1A

Sources for Paramyotonia Congenita of Von Eulenburg

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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