PMC
MCID: PRM057
MIFTS: 40

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 57 76 53 25 59 75 29 6 40
Paramyotonia Congenita 57 76 53 25 59 37 13 55 73
Pmc 57 53 25 75
Paralysis Periodica Paramyotonica 57 53 75
Paralysis Periodica Paramyotonia 25 75
Eulenburg Disease 53 25
Paramyotonia Congenita Without Cold Paralysis 75
Von Eulenburg Paramyotonia Congenita 53
Myotonia Congenita Intermittens 53
Von Eulenberg's Disease 25

Characteristics:

Orphanet epidemiological data:

59
paramyotonia congenita of von eulenburg
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood;

OMIM:

57
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:

32
paramyotonia congenita of von eulenburg:
Onset and clinical course phenotypic variability infantile onset
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 168300
Orphanet 59 ORPHA684
MESH via Orphanet 45 C538616
ICD10 via Orphanet 34 G71.1
UMLS via Orphanet 74 C1868617 C0221055
MeSH 44 D020967
KEGG 37 H00743
UMLS 73 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.

MalaCards based summary : Paramyotonia Congenita of Von Eulenburg, also known as paramyotonia congenita, is related to myotonia congenita, autosomal dominant 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, bone and tongue, and related phenotypes are dysphagia and neonatal hypotonia

NIH Rare Diseases : 53 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.

UniProtKB/Swiss-Prot : 75 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 : 76 Paramyotonia congenita (PC), also known as paramyotonia congenita of von Eulenburg or Eulenburg disease,... more...

Description 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 all 22)
# Related Disease Score Top Affiliating Genes
1 myotonia congenita, autosomal dominant 11.1
2 hyperkalemic periodic paralysis 10.7
3 myotonia 10.7
4 myotonia congenita 10.5
5 rigidity and multifocal seizure syndrome, lethal neonatal 10.1
6 hypokalemia 10.1
7 episodic ataxia 10.1
8 myotonic dystrophy 10.1
9 myotonia atrophica 10.1
10 periodic paralyses 10.1
11 ovarian cancer 10.0
12 scleroderma, familial progressive 10.0
13 malaria 10.0
14 brain ischemia 10.0
15 colitis 10.0
16 clostridium difficile colitis 10.0
17 mitral valve stenosis 10.0
18 ischemia 10.0
19 lupus erythematosus 10.0
20 normokalemic periodic paralysis 9.8 SCN4A LOC105371858
21 hypokalemic periodic paralysis, type 2 9.8 SCN4A LOC105371858
22 congenital myasthenic syndrome 9.7 SCN4A LOC105371858

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Paramyotonia Congenita of Von Eulenburg:

59 32 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002015
2 neonatal hypotonia 59 32 occasional (7.5%) Frequent (79-30%) HP:0001319
3 feeding difficulties 59 32 frequent (33%) Frequent (79-30%) HP:0011968
4 myalgia 59 32 frequent (33%) Frequent (79-30%) HP:0003326
5 muscle stiffness 59 32 frequent (33%) Frequent (79-30%) HP:0003552
6 neonatal inspiratory stridor 59 32 frequent (33%) Frequent (79-30%) HP:0004875
7 percussion myotonia 59 32 frequent (33%) Frequent (79-30%) HP:0010548
8 paradoxical myotonia 59 32 frequent (33%) Frequent (79-30%) HP:0011809
9 facial muscle hypertrophy 59 32 frequent (33%) Frequent (79-30%) HP:0012892
10 handgrip myotonia 59 32 frequent (33%) Frequent (79-30%) HP:0012899
11 myotonia of the face 59 32 frequent (33%) Frequent (79-30%) HP:0012900
12 myotonia of the jaw 59 32 frequent (33%) Frequent (79-30%) HP:0012901
13 myotonia of the upper limb 59 32 frequent (33%) Frequent (79-30%) HP:0012903
14 cold-sensitive myotonia 59 32 frequent (33%) Frequent (79-30%) HP:0012904
15 cold paresis 59 32 frequent (33%) Frequent (79-30%) HP:0031372
16 periodic hypokalemic paresis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008153
17 abnormality of potassium homeostasis 59 32 occasional (7.5%) Occasional (29-5%) HP:0011042
18 muscle weakness 32 HP:0001324
19 myotonia 59 Frequent (79-30%)
20 emg: myopathic abnormalities 59 Occasional (29-5%)
21 skeletal muscle hypertrophy 32 HP:0003712
22 inspiratory stridor 32 HP:0005348
23 emg 32 occasional (7.5%) HP:0003458

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 15)
# 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,Phase 2 31828-71-4 4178
3
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
4 Carbonic Anhydrase Inhibitors Phase 3
5 Diuretics, Potassium Sparing Phase 3,Phase 2
6 Anti-Arrhythmia Agents Phase 3,Phase 2
7 Sodium Channel Blockers Phase 3,Phase 2
8 Calcium, Dietary Phase 3
9 Excitatory Amino Acid Antagonists Phase 3
10 Neurotransmitter Agents Phase 3
11 calcium channel blockers Phase 3
12 Anticonvulsants Phase 3
13 Excitatory Amino Acids Phase 3
14
Ranolazine Approved, Investigational Phase 2 142387-99-3, 95635-55-5 56959
15
Lidocaine Approved, Vet_approved Phase 2 137-58-6 3676

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 Mexiletine and Non Dystrophic Myotonias Completed NCT02336477 Phase 3 Mexiletine;placebo
3 Lamotrigine as Treatment of Myotonia Completed NCT01939561 Phase 3 Lamotrigine;Placebo
4 Study of Ranolazine in Myotonia Congenita, Paramyotonia Congenita and Myotonic Dystrophy Type 1 Completed NCT02251457 Phase 2 Ranolazine
5 Combined N-of-1 Trials Mexiletine vs Placebo in Patients With Non-Dystrophic Myotonia (NDM) Completed NCT02045667 Phase 2 Mexiletine;Placebo
6 Characteristics of Nondystrophic Myotonias 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:

41
Skeletal Muscle, Bone, Tongue, Brain

Publications for Paramyotonia Congenita of Von Eulenburg

Articles related to Paramyotonia Congenita of Von Eulenburg:

(show all 15)
# Title Authors Year
1
Prolonged attacks of weakness with hypokalemia in SCN4A-related paramyotonia congenita. ( 30028520 )
2018
2
Successful long-term therapy with flecainide in a family with paramyotonia congenita. ( 29487168 )
2018
3
Open-Label Trial of Ranolazine for the Treatment of Paramyotonia Congenita. ( 30390395 )
2018
4
Propofol Reduces Succinylcholine-induced Muscle Rigidity in a Patient with Paramyotonia Congenita. ( 28298805 )
2017
5
A SCN4A mutation causing paramyotonia congenita. ( 29111379 )
2017
6
Clinical, electrophysiological and genetic features of a large Australian family with paramyotonia congenita. ( 19296818 )
2009
7
Disabling foot cramping in a runner secondary to paramyotonia congenita: a case report. ( 15319111 )
2004
8
Paramyotonia congenita due to a de novo mutation: a case report. ( 12872329 )
2003
9
A novel mutation in the gene for the adult skeletal muscle sodium channel alpha-subunit (SCN4A) that causes paramyotonia congenita of von Eulenburg. ( 10369308 )
1999
10
Immunochemical quantification of sarcoplasmic reticulum Ca(2+)-ATPase and calsequestrin in muscle biopsies from patients with myotonia congenita and paramyotonia congenita Eulenburg. ( 7857584 )
1994
11
Paramyotonia congenita or hyperkalemic periodic paralysis? Clinical and electrophysiological features of each entity in one family. ( 2325698 )
1990
12
Membrane defects in paramyotonia congenita (Eulenburg). ( 3657849 )
1987
13
Paramyotonia congenita: clinical and electrophysiologic studies. ( 6872931 )
1983
14
Contractile properties of the abductor digiti minimi muscle in paramyotonia congenita. ( 4423558 )
1974
15
Paramyotonia congenita (Eulenburg). Neurophysiologic studies of a case. ( 4118088 )
1972

Variations for Paramyotonia Congenita of Von Eulenburg

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

75 (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

ClinVar genetic disease variations for Paramyotonia Congenita of Von Eulenburg:

6 (show top 50) (show all 294)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN4A NM_000334.4(SCN4A): c.4342C> T (p.Arg1448Cys) single nucleotide variant Pathogenic rs121908544 GRCh37 Chromosome 17, 62019300: 62019300
2 SCN4A NM_000334.4(SCN4A): c.4342C> T (p.Arg1448Cys) single nucleotide variant Pathogenic rs121908544 GRCh38 Chromosome 17, 63941940: 63941940
3 SCN4A NM_000334.4(SCN4A): c.4343G> A (p.Arg1448His) single nucleotide variant Pathogenic rs121908545 GRCh37 Chromosome 17, 62019299: 62019299
4 SCN4A NM_000334.4(SCN4A): c.4343G> A (p.Arg1448His) single nucleotide variant Pathogenic rs121908545 GRCh38 Chromosome 17, 63941939: 63941939
5 SCN4A NM_000334.4(SCN4A): c.3917G> T (p.Gly1306Val) single nucleotide variant Pathogenic rs80338792 GRCh37 Chromosome 17, 62021206: 62021206
6 SCN4A NM_000334.4(SCN4A): c.3917G> T (p.Gly1306Val) single nucleotide variant Pathogenic rs80338792 GRCh38 Chromosome 17, 63943846: 63943846
7 SCN4A NM_000334.4(SCN4A): c.3938C> T (p.Thr1313Met) single nucleotide variant Pathogenic rs121908547 GRCh37 Chromosome 17, 62021185: 62021185
8 SCN4A NM_000334.4(SCN4A): c.3938C> T (p.Thr1313Met) single nucleotide variant Pathogenic rs121908547 GRCh38 Chromosome 17, 63943825: 63943825
9 SCN4A NM_000334.4(SCN4A): c.4765G> A (p.Val1589Met) single nucleotide variant Pathogenic rs121908548 GRCh37 Chromosome 17, 62018877: 62018877
10 SCN4A NM_000334.4(SCN4A): c.4765G> A (p.Val1589Met) single nucleotide variant Pathogenic rs121908548 GRCh38 Chromosome 17, 63941517: 63941517
11 SCN4A NM_000334.4(SCN4A): c.4298T> G (p.Leu1433Arg) single nucleotide variant Pathogenic rs121908550 GRCh37 Chromosome 17, 62019344: 62019344
12 SCN4A NM_000334.4(SCN4A): c.4298T> G (p.Leu1433Arg) single nucleotide variant Pathogenic rs121908550 GRCh38 Chromosome 17, 63941984: 63941984
13 SCN4A NM_000334.4(SCN4A): c.3917G> C (p.Gly1306Ala) single nucleotide variant Pathogenic rs80338792 GRCh37 Chromosome 17, 62021206: 62021206
14 SCN4A NM_000334.4(SCN4A): c.3917G> C (p.Gly1306Ala) single nucleotide variant Pathogenic rs80338792 GRCh38 Chromosome 17, 63943846: 63943846
15 SCN4A NM_000334.4(SCN4A): c.3877G> A (p.Val1293Ile) single nucleotide variant Pathogenic rs121908551 GRCh37 Chromosome 17, 62022068: 62022068
16 SCN4A NM_000334.4(SCN4A): c.3877G> A (p.Val1293Ile) single nucleotide variant Pathogenic rs121908551 GRCh38 Chromosome 17, 63944708: 63944708
17 SCN4A NM_000334.4(SCN4A): c.4367G> A (p.Gly1456Glu) single nucleotide variant Pathogenic rs121908554 GRCh37 Chromosome 17, 62019275: 62019275
18 SCN4A NM_000334.4(SCN4A): c.4367G> A (p.Gly1456Glu) single nucleotide variant Pathogenic rs121908554 GRCh38 Chromosome 17, 63941915: 63941915
19 SCN4A NM_000334.4(SCN4A): c.4428G> A (p.Met1476Ile) single nucleotide variant Pathogenic rs121908559 GRCh37 Chromosome 17, 62019214: 62019214
20 SCN4A NM_000334.4(SCN4A): c.4428G> A (p.Met1476Ile) single nucleotide variant Pathogenic rs121908559 GRCh38 Chromosome 17, 63941854: 63941854
21 SCN4A NM_000334.4(SCN4A): c.2078T> C (p.Ile693Thr) single nucleotide variant Pathogenic rs80338956 GRCh37 Chromosome 17, 62034820: 62034820
22 SCN4A NM_000334.4(SCN4A): c.2078T> C (p.Ile693Thr) single nucleotide variant Pathogenic rs80338956 GRCh38 Chromosome 17, 63957460: 63957460
23 SCN4A NM_000334.4(SCN4A): c.421A> G (p.Ile141Val) single nucleotide variant Pathogenic rs121908561 GRCh37 Chromosome 17, 62049557: 62049557
24 SCN4A NM_000334.4(SCN4A): c.421A> G (p.Ile141Val) single nucleotide variant Pathogenic rs121908561 GRCh38 Chromosome 17, 63972197: 63972197
25 SCN4A NM_000334.4(SCN4A): c.2341G> A (p.Val781Ile) single nucleotide variant Benign/Likely benign rs62070884 GRCh37 Chromosome 17, 62034557: 62034557
26 SCN4A NM_000334.4(SCN4A): c.2341G> A (p.Val781Ile) single nucleotide variant Benign/Likely benign rs62070884 GRCh38 Chromosome 17, 63957197: 63957197
27 SCN4A NM_000334.4(SCN4A): c.2717G> C (p.Ser906Thr) single nucleotide variant Benign/Likely benign rs41280102 GRCh37 Chromosome 17, 62028920: 62028920
28 SCN4A NM_000334.4(SCN4A): c.2717G> C (p.Ser906Thr) single nucleotide variant Benign/Likely benign rs41280102 GRCh38 Chromosome 17, 63951560: 63951560
29 SCN4A NM_000334.4(SCN4A): c.968C> T (p.Thr323Met) single nucleotide variant Benign/Likely benign rs80338952 GRCh37 Chromosome 17, 62045451: 62045451
30 SCN4A NM_000334.4(SCN4A): c.968C> T (p.Thr323Met) single nucleotide variant Benign/Likely benign rs80338952 GRCh38 Chromosome 17, 63968091: 63968091
31 SCN4A NM_000334.4(SCN4A): c.2631T> C (p.Asp877=) single nucleotide variant Benign rs79893125 GRCh37 Chromosome 17, 62029006: 62029006
32 SCN4A NM_000334.4(SCN4A): c.2631T> C (p.Asp877=) single nucleotide variant Benign rs79893125 GRCh38 Chromosome 17, 63951646: 63951646
33 SCN4A NM_000334.4(SCN4A): c.4539C> A (p.Ile1513=) single nucleotide variant Benign rs56342400 GRCh37 Chromosome 17, 62019103: 62019103
34 SCN4A NM_000334.4(SCN4A): c.4539C> A (p.Ile1513=) single nucleotide variant Benign rs56342400 GRCh38 Chromosome 17, 63941743: 63941743
35 SCN4A NM_000334.4(SCN4A): c.4869A> G (p.Thr1623=) single nucleotide variant Benign rs2070720 GRCh37 Chromosome 17, 62018773: 62018773
36 SCN4A NM_000334.4(SCN4A): c.4869A> G (p.Thr1623=) single nucleotide variant Benign rs2070720 GRCh38 Chromosome 17, 63941413: 63941413
37 SCN4A NM_000334.4(SCN4A): c.1167T> C (p.Tyr389=) single nucleotide variant Benign rs16947296 GRCh37 Chromosome 17, 62043537: 62043537
38 SCN4A NM_000334.4(SCN4A): c.1167T> C (p.Tyr389=) single nucleotide variant Benign rs16947296 GRCh38 Chromosome 17, 63966177: 63966177
39 SCN4A NM_000334.4(SCN4A): c.1570A> G (p.Ser524Gly) single nucleotide variant Benign rs6504191 GRCh37 Chromosome 17, 62041068: 62041068
40 SCN4A NM_000334.4(SCN4A): c.1570A> G (p.Ser524Gly) single nucleotide variant Benign rs6504191 GRCh38 Chromosome 17, 63963708: 63963708
41 SCN4A NM_000334.4(SCN4A): c.2289C> T (p.Ile763=) single nucleotide variant Benign/Likely benign rs76894284 GRCh37 Chromosome 17, 62034609: 62034609
42 SCN4A NM_000334.4(SCN4A): c.2289C> T (p.Ile763=) single nucleotide variant Benign/Likely benign rs76894284 GRCh38 Chromosome 17, 63957249: 63957249
43 SCN4A NM_000334.4(SCN4A): c.2919C> T (p.Pro973=) single nucleotide variant Benign rs73992419 GRCh37 Chromosome 17, 62026823: 62026823
44 SCN4A NM_000334.4(SCN4A): c.2919C> T (p.Pro973=) single nucleotide variant Benign rs73992419 GRCh38 Chromosome 17, 63949463: 63949463
45 SCN4A NM_000334.4(SCN4A): c.2989+5G> A single nucleotide variant Benign rs115695396 GRCh37 Chromosome 17, 62026748: 62026748
46 SCN4A NM_000334.4(SCN4A): c.2989+5G> A single nucleotide variant Benign rs115695396 GRCh38 Chromosome 17, 63949388: 63949388
47 SCN4A NM_000334.4(SCN4A): c.3441+7G> A single nucleotide variant Benign/Likely benign rs142270113 GRCh37 Chromosome 17, 62024398: 62024398
48 SCN4A NM_000334.4(SCN4A): c.3441+7G> A single nucleotide variant Benign/Likely benign rs142270113 GRCh38 Chromosome 17, 63947038: 63947038
49 SCN4A NM_000334.4(SCN4A): c.3604G> A (p.Glu1202Lys) single nucleotide variant Likely benign rs201916531 GRCh37 Chromosome 17, 62022836: 62022836
50 SCN4A NM_000334.4(SCN4A): c.3604G> A (p.Glu1202Lys) single nucleotide variant Likely benign rs201916531 GRCh38 Chromosome 17, 63945476: 63945476

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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