PMC
MCID: PRM057
MIFTS: 46

Paramyotonia Congenita of Von Eulenburg (PMC)

Categories: Bone diseases, Genetic 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 56 12 74 52 25 58 73 29 6 39
Paramyotonia Congenita 56 12 74 52 25 58 36 13 54 71
Pmc 56 12 52 25 73
Paralysis Periodica Paramyotonica 56 12 52 73
Eulenburg Disease 12 52 25
Von Eulenburg Paramyotonia Congenita 12 52
Paralysis Periodica Paramyotonia 25 73
Myotonia Congenita Intermittens 12 52
Paramyotonia Congenita Without Cold Paralysis 73
Von Eulenberg's Disease 25

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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 56 168300
KEGG 36 H00743
MeSH 43 D020967
MESH via Orphanet 44 C538616
ICD10 via Orphanet 33 G71.1
UMLS via Orphanet 72 C0221055 C1868617
Orphanet 58 ORPHA684
UMLS 71 C0221055

Summaries for Paramyotonia Congenita of Von Eulenburg

Genetics Home Reference : 25 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 hyperkalemic periodic paralysis, 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). The drugs Dichlorphenamide and Mexiletine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, thyroid and prostate, and related phenotypes are dysphagia and feeding difficulties

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.

NIH Rare Diseases : 52 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 : 73 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 : 74 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 60)
# Related Disease Score Top Affiliating Genes
1 myotonia congenita 30.3 SCN4A GH-LCR
2 hyperkalemic periodic paralysis 29.8 SCN4A GH-LCR
3 hypokalemic periodic paralysis, type 2 29.5 SCN4A GH-LCR
4 nondystrophic myotonia 11.8
5 myotonia congenita, autosomal dominant 11.3
6 periodic paralyses 10.5
7 pseudohyperkalemia, familial, 2, due to red cell leak 10.5
8 muscular disease 10.5
9 myopathy 10.5
10 myotonia 10.5
11 periodic paralysis 10.5
12 hypokalemic periodic paralysis, type 1 10.4
13 myotonia, potassium-aggravated 10.4
14 graves disease 1 10.3
15 pain agnosia 10.3
16 familial periodic paralysis 10.3
17 hypokalemia 10.3
18 myotonic dystrophy 10.3
19 familial periodic paralyses 10.3
20 myotonic dystrophy 1 10.2
21 ataxia and polyneuropathy, adult-onset 10.2
22 pyloric stenosis 10.2
23 neuromuscular disease 10.2
24 muscular atrophy 10.2
25 malignant hyperthermia 10.2
26 episodic ataxia 10.2
27 non-dystrophic myopathy 10.2
28 colorectal cancer 10.2
29 mitral valve stenosis 10.2
30 vascular disease 10.2
31 lupus erythematosus 10.2
32 autoimmune disease 10.0
33 hair whorl 10.0
34 systemic lupus erythematosus 10.0
35 neutrophil migration 10.0
36 ovarian cancer 10.0
37 pulmonary hypertension, primary, 1 10.0
38 scleroderma, familial progressive 10.0
39 thyroid cancer, nonmedullary, 1 10.0
40 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.0
41 prostatic hyperplasia, benign 10.0
42 malaria 10.0
43 gastric cancer 10.0
44 colitis 10.0
45 clostridium difficile colitis 10.0
46 inguinal hernia 10.0
47 cerebral artery occlusion 10.0
48 prostatic hypertrophy 10.0
49 rectum cancer 10.0
50 prostatic adenoma 10.0

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 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
3 neonatal hypotonia 58 31 occasional (7.5%) Frequent (79-30%) HP:0001319
4 myalgia 58 31 frequent (33%) Frequent (79-30%) HP:0003326
5 muscle stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0003552
6 neonatal inspiratory stridor 58 31 frequent (33%) Frequent (79-30%) HP:0004875
7 percussion myotonia 58 31 frequent (33%) Frequent (79-30%) HP:0010548
8 paradoxical myotonia 58 31 frequent (33%) Frequent (79-30%) HP:0011809
9 facial muscle hypertrophy 58 31 frequent (33%) Frequent (79-30%) HP:0012892
10 handgrip myotonia 58 31 frequent (33%) Frequent (79-30%) HP:0012899
11 myotonia of the face 58 31 frequent (33%) Frequent (79-30%) HP:0012900
12 myotonia of the jaw 58 31 frequent (33%) Frequent (79-30%) HP:0012901
13 myotonia of the upper limb 58 31 frequent (33%) Frequent (79-30%) HP:0012903
14 cold-sensitive myotonia 58 31 frequent (33%) Frequent (79-30%) HP:0012904
15 cold paresis 58 31 frequent (33%) Frequent (79-30%) HP:0031372
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 abnormality of potassium homeostasis 58 Occasional (29-5%)
22 skeletal muscle hypertrophy 31 HP:0003712
23 inspiratory stridor 31 HP:0005348

Symptoms via clinical synopsis from OMIM:

56
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

UMLS symptoms related to Paramyotonia Congenita of Von Eulenburg:


myalgia, muscular stiffness

Drugs & Therapeutics for Paramyotonia Congenita of Von Eulenburg

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

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dichlorphenamide Approved, Investigational Phase 3 120-97-8 3038
2
Mexiletine Approved, Investigational Phase 3 31828-71-4 4178
3 Sodium Channel Blockers Phase 3
4 Diuretics, Potassium Sparing Phase 3
5 Carbonic Anhydrase Inhibitors Phase 3
6 Anti-Arrhythmia Agents Phase 3
7
Lidocaine Approved, Vet_approved Phase 2 137-58-6 3676
8
Ranolazine Approved, Investigational Phase 1 95635-55-5, 142387-99-3 56959

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 Efficacy and Safety of Mexiletine in Non-dystrophic Myotonias Completed NCT02336477 Phase 3 Mexiletine;placebo
3 Combining N-of-1 Trials to Estimate Population Clinical and Cost-effectiveness of Drugs Using Bayesian Hierarchical Modeling. The Case of Mexiletine for Patients With Non- Dystrophic Myotonia. Completed NCT02045667 Phase 2 Mexiletine;Placebo
4 Open Label Trial of Ranolazine in Myotonia Congenita, Paramyotonia Congenita, & Myotonic Dystrophy Type 1 Completed NCT02251457 Phase 1 Ranolazine
5 Nondystrophic Myotonias: Genotype-phenotype Correlation and Longitudinal Study Completed NCT00244413

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, Thyroid, Prostate, Testes, Tongue, Brain, Bone

Publications for Paramyotonia Congenita of Von Eulenburg

Articles related to Paramyotonia Congenita of Von Eulenburg:

(show top 50) (show all 288)
# 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. 54 61 56 6
10369308 1999
2
Paramyotonia congenita without paralysis on exposure to cold: a novel mutation in the SCN4A gene (Val1293Ile). 54 61 56 6
8580427 1995
3
Stridor as a neonatal presentation of skeletal muscle sodium channelopathy. 61 56 6
21220685 2011
4
Clinical, electrophysiological, and molecular genetic studies in a new family with paramyotonia congenita. 61 56 6
10727489 2000
5
Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita. 61 56 6
1316765 1992
6
Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita. 61 56 6
1310898 1992
7
Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians. 56 6
18337100 2009
8
A novel dominant mutation of the Nav1.4 alpha-subunit domain I leading to sodium channel myotonia. 56 6
19015483 2008
9
Neonatal hypotonia can be a sodium channelopathy: recognition of a new phenotype. 56 6
19015492 2008
10
A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians. 56 6
17998485 2007
11
Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene. 54 61 56
18203179 2008
12
Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A. 54 61 56
12933953 2003
13
Molecular and genetic characterisation of German families with paramyotonia congenita and demonstration of founder effect in the Ravensberg families. 54 61 6
8005599 1994
14
Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel. 54 61 56
1338909 1992
15
Correlating phenotype and genotype in the periodic paralyses. 61 56
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 56
9131651 1997
17
A skeletal muscle sodium channel mutation in a Japanese family with paramyotonia congenita. 61 6
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 56
8424309 1993
21
Linkage data suggesting allelic heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17. 61 56
1660029 1991
22
Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus. 61 56
1654742 1991
23
Linkage studies of Myotonia congenita and Paramyotonia congenita. 61 56
2766573 1989
24
Paramyotonia congenita and myotonic dystrophy are not allelic disorders. 61 56
2776487 1989
25
Muscle stiffness and electrical activity in paramyotonia congenita. 61 56
3713735 1986
26
Paramyotonia congenita without cold paralysis and myotonia levoir. A genetic and clinical study. 61 56
852462 1977
27
Paramyotonia congenita: a clinical, histochemical and pathological study. 61 56
4655280 1972
28
Paramyotonia congenita: an electrophysiological study. 61 56
4655281 1972
29
Paramyotonia congenita. Association with cutaneous cold sensitivity and description of peculiar sustained postures after muscle contraction. 61 56
5935953 1966
30
Paramyotonia congenita, clinical features and electromyographic findings. 61 56
13758355 1961
31
Paramyotonia congenita. 61 56
13544644 1958
32
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 6
20298421 2010
33
Cold extends electromyography distinction between ion channel mutations causing myotonia. 56
16786525 2006
34
Familial cramp due to potassium-aggravated myotonia. 6
9771789 1998
35
Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker. 6
8308722 1993
36
A novel SCN4A mutation causing myotonia aggravated by cold and potassium. 6
8242056 1993
37
Non-dystrophic myotonias and periodic paralyses. A European Neuromuscular Center Workshop held 4-6 October 1992, Ulm, Germany. 56
7689382 1993
38
A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis. 56
1659668 1991
39
Von Eulenberg's paramyotonia. A clinical study of restricted myotonia and episodic paralysis successfully controlled by chlorothiazide. 56
5828532 1964
40
PROGRESSIVE NEUROLOGICAL DISORDER AND MYOTONIA CONGENITA ASSOCIATED WITH PARAMYOTONIA. 56
14090531 1963
41
A patient with episodic ataxia and paramyotonia congenita due to mutations in KCNA1 and SCN4A. 54 61
19770477 2009
42
What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed. 54 61
18166706 2008
43
Genotype-phenotype correlation and therapeutic rationale in hyperkalemic periodic paralysis. 54 61
17395131 2007
44
A new case of autosomal dominant myotonia associated with the V1589M missense mutation in the muscle sodium channel gene and its phenotypic classification. 54 61
16624558 2006
45
Functional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humans. 54 61
14617673 2004
46
Muscle biopsy and cell cultures: potential diagnostic tools in hereditary skeletal muscle channelopathies. 54 61
12685554 2003
47
Paramyotonia congenita with an SCN4A mutation affecting cardiac repolarization. 54 61
12552059 2003
48
Activation and inactivation of the voltage-gated sodium channel: role of segment S5 revealed by a novel hyperkalaemic periodic paralysis mutation. 54 61
10366610 1999
49
[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]. 54 61
9436446 1997
50
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. 54 61
9196904 1997

Variations for Paramyotonia Congenita of Von Eulenburg

ClinVar genetic disease variations for Paramyotonia Congenita of Von Eulenburg:

6 (show top 50) (show all 162) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCN4A NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met)SNV Pathogenic 5896 rs80338957 17:62034787-62034787 17:63957427-63957427
2 SCN4A NM_000334.4(SCN4A):c.4774A>G (p.Met1592Val)SNV Pathogenic 5897 rs80338962 17:62018868-62018868 17:63941508-63941508
3 SCN4A NM_000334.4(SCN4A):c.4342C>T (p.Arg1448Cys)SNV Pathogenic 5898 rs121908544 17:62019300-62019300 17:63941940-63941940
4 SCN4A NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His)SNV Pathogenic 5899 rs121908545 17:62019299-62019299 17:63941939-63941939
5 SCN4A NM_000334.4(SCN4A):c.3917G>T (p.Gly1306Val)SNV Pathogenic 5903 rs80338792 17:62021206-62021206 17:63943846-63943846
6 SCN4A NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met)SNV Pathogenic 5904 rs121908547 17:62021185-62021185 17:63943825-63943825
7 SCN4A NM_000334.4(SCN4A):c.4765G>A (p.Val1589Met)SNV Pathogenic 5905 rs121908548 17:62018877-62018877 17:63941517-63941517
8 SCN4A NM_000334.4(SCN4A):c.4298T>G (p.Leu1433Arg)SNV Pathogenic 5907 rs121908550 17:62019344-62019344 17:63941984-63941984
9 SCN4A NM_000334.4(SCN4A):c.3877G>A (p.Val1293Ile)SNV Pathogenic 5909 rs121908551 17:62022068-62022068 17:63944708-63944708
10 SCN4A NM_000334.4(SCN4A):c.1333G>A (p.Val445Met)SNV Pathogenic 5910 rs121908552 17:62041947-62041947 17:63964587-63964587
11 SCN4A NM_000334.4(SCN4A):c.4367G>A (p.Gly1456Glu)SNV Pathogenic 5915 rs121908554 17:62019275-62019275 17:63941915-63941915
12 SCN4A NM_000334.4(SCN4A):c.4428G>A (p.Met1476Ile)SNV Pathogenic 5921 rs121908559 17:62019214-62019214 17:63941854-63941854
13 SCN4A NM_000334.4(SCN4A):c.2078T>C (p.Ile693Thr)SNV Pathogenic 5923 rs80338956 17:62034820-62034820 17:63957460-63957460
14 SCN4A NM_000334.4(SCN4A):c.421A>G (p.Ile141Val)SNV Pathogenic 5924 rs121908561 17:62049557-62049557 17:63972197-63972197
15 SCN4A NM_000334.4(SCN4A):c.664C>T (p.Arg222Trp)SNV Pathogenic/Likely pathogenic 143199 rs527236148 17:62048561-62048561 17:63971201-63971201
16 SCN4A NM_000334.4(SCN4A):c.4776G>A (p.Met1592Ile)SNV Likely pathogenic 427072 rs886041805 17:62018866-62018866 17:63941506-63941506
17 SCN4A NM_000334.4(SCN4A):c.2704G>A (p.Gly902Ser)SNV Conflicting interpretations of pathogenicity 543804 rs200517944 17:62028933-62028933 17:63951573-63951573
18 SCN4A NM_000334.4(SCN4A):c.3386G>A (p.Arg1129Gln)SNV Conflicting interpretations of pathogenicity 143200 rs527236149 17:62024460-62024460 17:63947100-63947100
19 SCN4A NM_000334.4(SCN4A):c.952T>C (p.Trp318Arg)SNV Conflicting interpretations of pathogenicity 252477 rs199676994 17:62045467-62045467 17:63968107-63968107
20 SCN4A NM_000334.4(SCN4A):c.4125C>T (p.Asp1375=)SNV Conflicting interpretations of pathogenicity 255853 rs375607705 17:62020349-62020349 17:63942989-63942989
21 SCN4A NM_000334.4(SCN4A):c.483-9C>ASNV Conflicting interpretations of pathogenicity 255857 rs201552497 17:62049219-62049219 17:63971859-63971859
22 SCN4A NM_000334.4(SCN4A):c.403A>C (p.Met135Leu)SNV Conflicting interpretations of pathogenicity 255852 rs148028364 17:62049575-62049575 17:63972215-63972215
23 SCN4A NM_000334.4(SCN4A):c.1100+7G>ASNV Conflicting interpretations of pathogenicity 255842 rs200770684 17:62043834-62043834 17:63966474-63966474
24 SCN4A NM_000334.4(SCN4A):c.2995G>A (p.Val999Met)SNV Conflicting interpretations of pathogenicity 324525 rs377277110 17:62026120-62026120 17:63948760-63948760
25 SCN4A NM_000334.4(SCN4A):c.2478C>T (p.Ile826=)SNV Conflicting interpretations of pathogenicity 194331 rs371914255 17:62029159-62029159 17:63951799-63951799
26 SCN4A NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile)SNV Conflicting interpretations of pathogenicity 195797 rs202106192 17:62018952-62018952 17:63941592-63941592
27 SCN4A NM_000334.4(SCN4A):c.3604G>A (p.Glu1202Lys)SNV Conflicting interpretations of pathogenicity 130233 rs201916531 17:62022836-62022836 17:63945476-63945476
28 SCN4A NM_000334.4(SCN4A):c.4886C>T (p.Pro1629Leu)SNV Conflicting interpretations of pathogenicity 324512 rs202102815 17:62018756-62018756 17:63941396-63941396
29 SCN4A NM_000334.4(SCN4A):c.3360G>A (p.Ser1120=)SNV Conflicting interpretations of pathogenicity 324522 rs377187913 17:62024486-62024486 17:63947126-63947126
30 SCN4A NM_000334.4(SCN4A):c.3136G>T (p.Gly1046Trp)SNV Conflicting interpretations of pathogenicity 324524 rs759982229 17:62025979-62025979 17:63948619-63948619
31 SCN4A NM_000334.4(SCN4A):c.2563A>G (p.Met855Val)SNV Conflicting interpretations of pathogenicity 324534 rs372019457 17:62029074-62029074 17:63951714-63951714
32 SCN4A NM_000334.4(SCN4A):c.2697G>A (p.Leu899=)SNV Conflicting interpretations of pathogenicity 324528 rs199827271 17:62028940-62028940 17:63951580-63951580
33 SCN4A NM_000334.4(SCN4A):c.1796A>G (p.His599Arg)SNV Conflicting interpretations of pathogenicity 324537 rs187401185 17:62038602-62038602 17:63961242-63961242
34 SCN4A NM_000334.4(SCN4A):c.1462G>A (p.Ala488Thr)SNV Conflicting interpretations of pathogenicity 324540 rs185941768 17:62041176-62041176 17:63963816-63963816
35 SCN4A NM_000334.4(SCN4A):c.1120G>A (p.Glu374Lys)SNV Conflicting interpretations of pathogenicity 324546 rs766463226 17:62043584-62043584 17:63966224-63966224
36 SCN4A NM_000334.4(SCN4A):c.*1069G>ASNV Uncertain significance 324489 rs368616841 17:62017062-62017062 17:63939702-63939702
37 SCN4A NM_000334.4(SCN4A):c.*315C>TSNV Uncertain significance 324499 rs886053245 17:62017816-62017816 17:63940456-63940456
38 SCN4A NM_000334.4(SCN4A):c.*2211C>TSNV Uncertain significance 324463 rs886053237 17:62015920-62015920 17:63938560-63938560
39 SCN4A NM_000334.4(SCN4A):c.*1875A>GSNV Uncertain significance 324471 rs886053239 17:62016256-62016256 17:63938896-63938896
40 SCN4A NM_000334.4(SCN4A):c.*1253G>ASNV Uncertain significance 324484 rs886053240 17:62016878-62016878 17:63939518-63939518
41 SCN4A NM_000334.4(SCN4A):c.*1205C>GSNV Uncertain significance 324486 rs886053241 17:62016926-62016926 17:63939566-63939566
42 SCN4A NM_000334.4(SCN4A):c.*1057C>TSNV Uncertain significance 324490 rs886053242 17:62017074-62017074 17:63939714-63939714
43 SCN4A NM_000334.4(SCN4A):c.4667A>G (p.Asn1556Ser)SNV Uncertain significance 324516 rs751454852 17:62018975-62018975 17:63941615-63941615
44 SCN4A NM_000334.4(SCN4A):c.4289-4G>ASNV Uncertain significance 324518 rs750364111 17:62019357-62019357 17:63941997-63941997
45 SCN4A NM_000334.4(SCN4A):c.3210G>A (p.Lys1070=)SNV Uncertain significance 324523 rs749973882 17:62025358-62025358 17:63947998-63947998
46 SCN4A NM_000334.4(SCN4A):c.2862G>A (p.Pro954=)SNV Uncertain significance 324526 rs375375167 17:62026880-62026880 17:63949520-63949520
47 SCN4A NM_000334.4(SCN4A):c.1356G>C (p.Glu452Asp)SNV Uncertain significance 324543 rs749394640 17:62041924-62041924 17:63964564-63964564
48 SCN4A NM_000334.4(SCN4A):c.5205G>C (p.Gln1735His)SNV Uncertain significance 324510 rs199944673 17:62018437-62018437 17:63941077-63941077
49 SCN4A NM_000334.4(SCN4A):c.4891G>A (p.Ala1631Thr)SNV Uncertain significance 324511 rs201115695 17:62018751-62018751 17:63941391-63941391
50 SCN4A NM_000334.4(SCN4A):c.1594G>A (p.Asp532Asn)SNV Uncertain significance 324539 rs747479565 17:62041044-62041044 17:63963684-63963684

UniProtKB/Swiss-Prot genetic disease variations for Paramyotonia Congenita of Von Eulenburg:

73 (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
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

GO Terms for Paramyotonia Congenita of Von Eulenburg

Sources for Paramyotonia Congenita of Von Eulenburg

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