LQT7
MCID: AND019
MIFTS: 65

Andersen Cardiodysrhythmic Periodic Paralysis (LQT7)

Categories: Cardiovascular diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Andersen Cardiodysrhythmic Periodic Paralysis

MalaCards integrated aliases for Andersen Cardiodysrhythmic Periodic Paralysis:

Name: Andersen Cardiodysrhythmic Periodic Paralysis 56 12 52 73
Andersen-Tawil Syndrome 56 12 24 52 25 58 73 36 15
Andersen Syndrome 56 12 25 58 73 13 54 43 71
Lqt7 56 12 52 25 58 73
Long Qt Syndrome 7 56 12 52 25 73
Periodic Paralysis, Potassium-Sensitive Cardiodysrhythmic Type 56 52 73
Andersen Tawil Syndrome 29 6 39
Ats 56 25 73
Long Qt Syndrome Type 7 24 58
Potassium-Sensitive Periodic Paralysis, Ventricular Ectopy, and Dysmorphic Features 52
Potassium-Sensitive Cardiodysrhythmic Type 12
Andersen-Tawil Syndrome; Ats 56
Long Qt Syndrome 7; Lqt7 56
Andersen's Disease 74
Lqts Type 7 24

Characteristics:

Orphanet epidemiological data:

58
andersen-tawil syndrome
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
clinical triad - dysmorphic features, cardiac arrhythmia, and potassium-sensitive periodic paralysis
onset of periodic paralysis (mean) 5 years (range) 8 months to 15 years
periodic paralysis triggered by exercise, rest following exercise, prolonged periods of rest, and stress


HPO:

31
andersen cardiodysrhythmic periodic paralysis:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Non-penetrance is evident in 6%-20% of individuals with an identifiable pathogenic variant [andelfinger et al 2002, tristani-firouzi et al 2002, donaldson et al 2003].

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Andersen Cardiodysrhythmic Periodic Paralysis

Genetics Home Reference : 25 Andersen-Tawil syndrome is a disorder that causes episodes of muscle weakness (periodic paralysis), changes in heart rhythm (arrhythmia), and developmental abnormalities. Periodic paralysis begins early in life, and episodes last from hours to days. These episodes may occur after exercise or long periods of rest, but they often have no obvious trigger. Muscle strength usually returns to normal between episodes. However, mild muscle weakness may eventually become permanent. In people with Andersen-Tawil syndrome, the most common changes affecting the heart are ventricular arrhythmia, which is a disruption in the rhythm of the heart's lower chambers (the ventricles), and long QT syndrome. Long QT syndrome is a heart condition that causes the heart (cardiac) muscle to take longer than usual to recharge between beats. The irregular heartbeats can lead to discomfort, such as the feeling that the heart is skipping beats (palpitations). Uncommonly, the irregular heartbeats can cause fainting (syncope), and even more rarely, sudden death. Physical abnormalities associated with Andersen-Tawil syndrome typically affect the face, other parts of the head, and the limbs. These features often include a very small lower jaw (micrognathia), dental abnormalities (such as crowded teeth), low-set ears, widely spaced eyes, fusion (syndactyly) of the second and third toes, and unusual curving of the fingers or toes (clinodactyly). Some affected people also have short stature and an abnormal side-to-side curvature of the spine (scoliosis). The signs and symptoms of Andersen-Tawil syndrome vary widely, and they can be different even among affected members of the same family. About 60 percent of affected individuals have all three major features (periodic paralysis, cardiac arrhythmia, and physical abnormalities).

MalaCards based summary : Andersen Cardiodysrhythmic Periodic Paralysis, also known as andersen-tawil syndrome, is related to central core disease of muscle and migraine with or without aura 1, and has symptoms including syncope An important gene associated with Andersen Cardiodysrhythmic Periodic Paralysis is KCNJ2 (Potassium Inwardly Rectifying Channel Subfamily J Member 2), and among its related pathways/superpathways are Cholinergic synapse and G-Beta Gamma Signaling. The drugs Acetazolamide and diuretics have been mentioned in the context of this disorder. Affiliated tissues include heart, eye and kidney, and related phenotypes are specific learning disability and delayed skeletal maturation

Disease Ontology : 12 A long QT syndrome that has material basis in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly.

NIH Rare Diseases : 52 Andersen-Tawil syndrome is a type of long QT syndrome and is also considered a rare form of periodic paralysis . It causes episodes of muscle weakness, changes in heart rhythm (arrhythmia), and developmental abnormalities. Physical abnormalities associated with this condition typically affect the head, face, and limbs. About 60% of cases of Andersen-Tawil syndrome are caused by mutations in the KCNJ2 gene . The cause of the remaining cases remains unknown. This condition is inherited in an autosomal dominant pattern.

OMIM : 56 Andersen-Tawil syndrome is an autosomal dominant multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias, and distinctive dysmorphic facial or skeletal features. Hypoplastic kidney and valvular heart disease have also been reported. The disorder shows marked intrafamilial variability and incomplete penetrance (summary by Davies et al., 2005). (170390)

KEGG : 36 Andersen-Tawil syndrome (ATS) is a distinct type of periodic paralysis characterized in its full form by a triad of cardiac abnormalities, distinctive facial and skeletal features, and periodic paralysis. The distinctive physical features considered characteristic of ATS are: broad forehead, hypoplastic mandible, hypotelorism, low-set ears, digit clinodactyly, and 2-3 syndactyly of the toes. It is obvious that ATS has a high degree of phenotypic heterogeneity. ATS patients have loss-of-function mutations in the KCNJ2 gene, which encodes the voltage-gated inward rectifier potassium channel, Kir2.1. However, described KCNJ2 mutations only account for approximately 60% of diagnoses, suggesting genetic heterogeneity.

UniProtKB/Swiss-Prot : 73 Long QT syndrome 7: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. Long QT syndrome type 7 manifests itself as a clinical triad consisting of potassium-sensitive periodic paralysis, ventricular ectopy and dysmorphic features.

Wikipedia : 74 Glycogen storage disease type IV is a form of glycogen storage disease, which is caused by an inborn... more...

GeneReviews: NBK1264

Related Diseases for Andersen Cardiodysrhythmic Periodic Paralysis

Diseases related to Andersen Cardiodysrhythmic Periodic Paralysis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 7794)
# Related Disease Score Top Affiliating Genes
1 central core disease of muscle 31.8 RYR2 CACNA1S
2 migraine with or without aura 1 31.6 SCN5A SCN4A CACNA1S CACNA1C
3 familial hemiplegic migraine 31.6 SCN5A CACNA1S CACNA1C
4 myotonia congenita 31.5 SCN4A KCNJ2 CACNA1S
5 episodic ataxia 31.4 CACNA1C SCN4A CACNA1S
6 generalized epilepsy with febrile seizures plus 31.4 SCN5A SCN4B SCN4A
7 congestive heart failure 31.4 SCN5A RYR2 KCNQ1 KCNJ2 KCNE2 CACNA1C
8 epileptic encephalopathy, early infantile, 6 31.3 SCN5A SCN4B SCN4A
9 periodic paralyses 31.3 SCN4A KCNJ2 CACNA1S
10 thyrotoxic periodic paralysis 31.2 KCNJ2 KCNJ18 CACNA1S
11 paroxysmal extreme pain disorder 31.2 SCN5A SCN4B SCN4A
12 noonan syndrome with multiple lentigines 31.0 SCN5A RYR2 KCNQ1 KCNH2 CACNA1C
13 graves disease 1 31.0 SCN4A KCNJ18 CACNA1S
14 paramyotonia congenita of von eulenburg 31.0 SCN5A SCN4A KCNJ2 KCNJ18 CACNA1S
15 periodic paralysis 31.0 SCN4A KCNJ2 KCNJ18 CACNA1S
16 right bundle branch block 30.9 SCN5A KCNH2 CACNA1C
17 ventricular tachycardia, catecholaminergic polymorphic, 3 30.9 RYR2 KCNJ2 CASQ2
18 cardiac arrest 30.8 SCN5A RYR2 KCNQ1 KCNH2 CASQ2 ANK2
19 atrial standstill 1 30.8 SCN5A RYR2 GBE1 CAV3
20 heart disease 30.8 SCN5A RYR2 KCNQ1 KCNJ5 KCNJ2 KCNH2
21 lipoprotein quantitative trait locus 30.8 SCN5A RYR2 KCNJ5 KCNH2
22 progressive familial heart block, type ia 30.8 SCN5A ANK2
23 hypokalemia 30.8 SCN4A KCNQ1 KCNJ5 KCNJ18 KCNH2 CACNA1S
24 cardiomyopathy, dilated, 3b 30.7 SNTA1 CAV3
25 sudden infant death syndrome 30.7 SNTA1 SCN5A SCN4B RYR2 KCNQ1 KCNH2
26 arrhythmogenic right ventricular cardiomyopathy 30.7 SCN5A RYR2 KCNH2 KCNE1 CACNA1S CACNA1C
27 malignant hyperthermia 30.5 SCN5A SCN4A RYR2 KCNH2 CAV3 CASQ2
28 wolff-parkinson-white syndrome 30.4 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 KCNE2
29 ventricular fibrillation, paroxysmal familial, 1 30.4 SCN5A RYR2 KCNQ1 KCNJ5 KCNH2 KCNE2
30 chromosome 2q35 duplication syndrome 30.4 KCNQ1 KCNJ2 CACNA1C
31 left ventricular noncompaction 30.3 SNTA1 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2
32 myasthenic syndrome, congenital, 5 30.3 SCN5A RYR2 KCNQ1 KCNJ2 KCNJ12 KCNH2
33 cardiac arrhythmia 30.3 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 KCNE2
34 syncope 30.2 SCN5A RYR2 KCNQ1 KCNH2
35 atrial fibrillation 30.1 SCN5A SCN4B RYR2 KCNQ1 KCNJ5 KCNJ2
36 cardiac conduction defect 30.0 SCN5A RYR2 KCNQ1 KCNH2 ANK2
37 congenital myasthenic syndrome 29.8 SCN5A SCN4A RYR2 KCNQ1 KCNJ2 KCNH2
38 familial long qt syndrome 29.8 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
39 atrioventricular block 29.8 SCN5A RYR2 KCNQ1 KCNH2 KCNE2 KCNE1
40 familial periodic paralysis 29.8 SCN5A SCN4A KCNJ2 KCNJ18 KCNJ12 CACNA1S
41 sick sinus syndrome 29.7 SNTA1 SCN5A KCNQ1 KCNJ2 CACNA1C ANK2
42 familial short qt syndrome 29.6 KCNQ1 KCNJ2 KCNH2
43 hyperkalemic periodic paralysis 29.6 SCN5A SCN4A KCNJ2 KCNJ18 GBE1 CACNA1S
44 neuromuscular disease 29.6 SCN5A SCN4A RYR2 KCNH2 CAV3 CACNA1S
45 long qt syndrome 13 29.5 SNTA1 SCN5A SCN4B KCNQ1 KCNJ5 KCNJ2
46 hypertrophic cardiomyopathy 29.5 SCN5A RYR2 KCNQ1 KCNJ5 KCNJ2 KCNH2
47 first-degree atrioventricular block 29.5 SCN5A KCNJ2
48 jervell and lange-nielsen syndrome 1 29.4 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
49 erythromelalgia 29.4 SCN5A SCN4B SCN4A
50 third-degree atrioventricular block 29.4 SCN5A KCNJ2 KCNJ12 KCNH2

Graphical network of the top 20 diseases related to Andersen Cardiodysrhythmic Periodic Paralysis:



Diseases related to Andersen Cardiodysrhythmic Periodic Paralysis

Symptoms & Phenotypes for Andersen Cardiodysrhythmic Periodic Paralysis

Human phenotypes related to Andersen Cardiodysrhythmic Periodic Paralysis:

31 (show all 47)
# Description HPO Frequency HPO Source Accession
1 specific learning disability 31 occasional (7.5%) HP:0001328
2 delayed skeletal maturation 31 HP:0002750
3 hypertelorism 31 HP:0000316
4 scoliosis 31 HP:0002650
5 microcephaly 31 HP:0000252
6 hypokalemia 31 HP:0002900
7 cleft palate 31 HP:0000175
8 high palate 31 HP:0000218
9 low-set ears 31 HP:0000369
10 depressivity 31 HP:0000716
11 prolonged qt interval 31 HP:0001657
12 slender long bone 31 HP:0003100
13 scapular winging 31 HP:0003691
14 joint laxity 31 HP:0001388
15 hypoplasia of the maxilla 31 HP:0000327
16 brachydactyly 31 HP:0001156
17 clinodactyly of the 5th finger 31 HP:0004209
18 facial asymmetry 31 HP:0000324
19 thin upper lip vermilion 31 HP:0000219
20 malar flattening 31 HP:0000272
21 bulbous nose 31 HP:0000414
22 broad forehead 31 HP:0000337
23 blepharophimosis 31 HP:0000581
24 small hand 31 HP:0200055
25 triangular face 31 HP:0000325
26 toe syndactyly 31 HP:0001770
27 short metacarpal 31 HP:0010049
28 preauricular pit 31 HP:0004467
29 short foot 31 HP:0001773
30 syncope 31 HP:0001279
31 short palm 31 HP:0004279
32 short phalanx of finger 31 HP:0009803
33 short palpebral fissure 31 HP:0012745
34 persistence of primary teeth 31 HP:0006335
35 oligodontia 31 HP:0000677
36 short metatarsal 31 HP:0010743
37 hypoplasia of dental enamel 31 HP:0006297
38 short mandibular rami 31 HP:0003778
39 delayed eruption of permanent teeth 31 HP:0000696
40 clinodactyly of the 5th toe 31 HP:0001864
41 periodic hypokalemic paresis 31 HP:0008153
42 palpitations 31 HP:0001962
43 prominent u wave 31 HP:0025072
44 growth abnormality 31 HP:0001507
45 antegonial notching of mandible 31 HP:0003779
46 bidirectional ventricular ectopy 31 HP:0005147
47 prominent frontal sinuses 31 HP:0005478

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
short palpebral fissures

Head And Neck Head:
microcephaly
small head circumference (lower end of normal)

Head And Neck Face:
micrognathia
broad forehead
triangular face
maxillary hypoplasia
malar hypoplasia
more
Chest Ribs Sternum Clavicles And Scapulae:
scapular winging
gracile ribs

Skeletal Hands:
brachydactyly
syndactyly
fifth finger clinodactyly
short metacarpals
short phalanges
more
Head And Neck Teeth:
oligodontia
enamel hypoplasia
persistent primary teeth
delayed eruption of secondary teeth
elongated roots with open apices
more
Skeletal Feet:
short metatarsals
fifth toe clinodactyly
syndactyly (2-3)
small feet

Head And Neck Nose:
bulbous nasal tip

Neurologic Central Nervous System:
periodic paralysis, usually hypokalemic
episodes of weakness can last 1 day to several weeks and can occur 1-3 times per month
white matter lesions (1 patient)

Laboratory Abnormalities:
hypokalemia during periodic paralysis (most patients)

Skeletal Spine:
scoliosis

Head And Neck Mouth:
cleft palate
thin upper lip
high-arched palate

Head And Neck Ears:
low-set ears
preauricular pits

Skeletal:
joint laxity
delayed bone age

Cardiovascular Heart:
syncope
palpitations
prominent u wave
bidirectional ventricular ectopy
prolonged qtc

Skeletal Skull:
short mandibular rami
antegonial notching of mandible
prominent frontal sinuses
small mandible
small maxilla
more
Growth Height:
stature (<10th percentile)

Skeletal Limbs:
gracile long bones

Neurologic Behavioral Psychiatric Manifestations:
learning disabilities, mild (some patients)
depression (1 patient)

Clinical features from OMIM:

170390

UMLS symptoms related to Andersen Cardiodysrhythmic Periodic Paralysis:


syncope

MGI Mouse Phenotypes related to Andersen Cardiodysrhythmic Periodic Paralysis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.73 CACNA1C CACNA1S CASQ2 CAV3 GBE1 KCNH2
2 muscle MP:0005369 9.4 CACNA1C CACNA1S CASQ2 CAV3 GBE1 KCNH2

Drugs & Therapeutics for Andersen Cardiodysrhythmic Periodic Paralysis

Drugs for Andersen Cardiodysrhythmic Periodic Paralysis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetazolamide Approved, Vet_approved Phase 1 59-66-5 1986
2 diuretics Phase 1
3 Anticonvulsants Phase 1
4 Carbonic Anhydrase Inhibitors Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Therapeutic Trial of Potassium and Acetazolamide in Andersen-Tawil Syndrome Terminated NCT00839501 Phase 1 Acetazolamide
2 Andersen-Tawil Syndrome: Genotype-Phenotype Correlation and Longitudinal Study Completed NCT00521794

Search NIH Clinical Center for Andersen Cardiodysrhythmic Periodic Paralysis

Cochrane evidence based reviews: andersen syndrome

Genetic Tests for Andersen Cardiodysrhythmic Periodic Paralysis

Genetic tests related to Andersen Cardiodysrhythmic Periodic Paralysis:

# Genetic test Affiliating Genes
1 Andersen Tawil Syndrome 29 KCNJ2

Anatomical Context for Andersen Cardiodysrhythmic Periodic Paralysis

MalaCards organs/tissues related to Andersen Cardiodysrhythmic Periodic Paralysis:

40
Heart, Eye, Kidney, Bone, Testes, Skeletal Muscle

Publications for Andersen Cardiodysrhythmic Periodic Paralysis

Articles related to Andersen Cardiodysrhythmic Periodic Paralysis:

(show top 50) (show all 217)
# Title Authors PMID Year
1
KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes. 6 56 24 54
12148092 2002
2
Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). 24 56 6 54
12163457 2002
3
Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome. 61 56 54 6
16571646 2006
4
Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. 24 56 6
11371347 2001
5
Corticosteroid-exacerbated symptoms in an Andersen's syndrome kindred. 6 56 54
17324964 2007
6
Andersen-Tawil syndrome: definition of a neurocognitive phenotype. 61 56 54 24
16769944 2006
7
PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome. 54 61 56 24
12796536 2003
8
Andersen-Tawil syndrome: prospective cohort analysis and expansion of the phenotype. 56 24 61
16419128 2006
9
Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation. 61 56 24
16217063 2005
10
Mutations of KCNJ2 gene associated with Andersen-Tawil syndrome in Korean families. 56 54 61
17211524 2007
11
Alterations in conserved Kir channel-PIP2 interactions underlie channelopathies. 56 24
12086641 2002
12
Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features. 24 56
8080508 1994
13
Intermittent muscular weakness, extrasystoles, and multiple developmental anomalies. A new syndrome? 56 24
4106724 1971
14
A novel neuropsychiatric phenotype of KCNJ2 mutation in one Taiwanese family with Andersen-Tawil syndrome. 56 61
20111058 2010
15
Trafficking-competent and trafficking-defective KCNJ2 mutations in Andersen syndrome. 61 54 24
16541386 2006
16
Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype. 61 54 24
15911703 2005
17
Andersen-Tawil Syndrome 61 6
20301441 2004
18
Long QT Syndrome 6 61
20301308 2003
19
Prevalence and mutation spectrum of skeletal muscle channelopathies in the Netherlands. 61 24
29606556 2018
20
Review of the Diagnosis and Treatment of Periodic Paralysis. 61 24
29125635 2018
21
Andersen-Tawil syndrome: Clinical presentation and predictors of symptomatic arrhythmias - Possible role of polymorphisms K897T in KCNH2 and H558R in SCN5A gene. 61 24
28336205 2017
22
Flecainide ameliorates arrhythmogenicity through NCX flux in Andersen-Tawil syndrome-iPS cell-derived cardiomyocytes. 61 24
28956012 2017
23
Reversible Dilated Cardiomyopathy Caused by a High Burden of Ventricular Arrhythmias in Andersen-Tawil Syndrome. 61 24
27789106 2016
24
Identification of the KCNJ2 Mutation in a Korean Family with Andersen-Tawil Syndrome and Developmental Delay. 24 61
26927354 2016
25
Mosaic KCNJ2 mutation in Andersen-Tawil syndrome: targeted deep sequencing is useful for the detection of mosaicism. 24 61
24635491 2015
26
Efficacy and safety of flecainide for ventricular arrhythmias in patients with Andersen-Tawil syndrome with KCNJ2 mutations. 24 61
25496985 2015
27
A Kir3.4 mutation causes Andersen-Tawil syndrome by an inhibitory effect on Kir2.1. 61 24
24574546 2014
28
Array comparative genomic hybridization identifies a heterozygous deletion of the entire KCNJ2 gene as a cause of sudden cardiac death. 61 24
24395924 2014
29
Cardiac characteristics and long-term outcome in Andersen-Tawil syndrome patients related to KCNJ2 mutation. 61 24
23867365 2013
30
Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. 6
23994779 2013
31
Novel mutation in the KCNJ2 gene is associated with a malignant arrhythmic phenotype of Andersen-Tawil syndrome. 61 24
24047492 2013
32
Non dominant-negative KCNJ2 gene mutations leading to Andersen-Tawil syndrome with an isolated cardiac phenotype. 61 24
23644778 2013
33
Prevalence study of genetically defined skeletal muscle channelopathies in England. 61 24
23516313 2013
34
Delineating the 17q24.2-q24.3 microdeletion syndrome phenotype. 24 61
22982078 2012
35
Phenotype variability in patients carrying KCNJ2 mutations. 24 61
22589293 2012
36
Characterization of a novel, dominant negative KCNJ2 mutation associated with Andersen-Tawil syndrome. 61 24
22186697 2011
37
A novel KCNJ2 nonsense mutation, S369X, impedes trafficking and causes a limited form of Andersen-Tawil syndrome. 24 61
21493816 2011
38
Refined exercise testing can aid DNA-based diagnosis in muscle channelopathies. 61 24
21387378 2011
39
Biophysical and molecular characterization of a novel de novo KCNJ2 mutation associated with Andersen-Tawil syndrome and catecholaminergic polymorphic ventricular tachycardia mimicry. 61 24
21148745 2011
40
Kir 2.1 channelopathies: the Andersen-Tawil syndrome. 61 24
20306271 2010
41
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 6
20298421 2010
42
Resuscitated sudden cardiac death in Andersen-Tawil syndrome. 61 24
19959136 2009
43
Andersen-Tawil syndrome: management challenges during pregnancy, labor, and delivery. 24 61
18554214 2008
44
Reduction of complex ventricular ectopy and improvement in exercise capacity with flecainide therapy in Andersen-Tawil syndrome. 61 24
18621769 2008
45
Flecainide suppresses bidirectional ventricular tachycardia and reverses tachycardia-induced cardiomyopathy in Andersen-Tawil syndrome. 61 24
17655675 2008
46
Management and treatment of Andersen-Tawil syndrome (ATS). 24 61
17395133 2007
47
Flecainide for recurrent malignant ventricular arrhythmias in two siblings with Andersen-Tawil syndrome. 24 61
17399642 2007
48
Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome. 61 24
17221872 2007
49
A family with Andersen-Tawil syndrome and dilated cardiomyopathy. 61 24
17074642 2006
50
Andersen-Tawil syndrome: a model of clinical variability, pleiotropy, and genetic heterogeneity. 61 24
15176430 2004

Variations for Andersen Cardiodysrhythmic Periodic Paralysis

ClinVar genetic disease variations for Andersen Cardiodysrhythmic Periodic Paralysis:

6 (show top 50) (show all 225) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KCNJ2 NM_000891.2(KCNJ2):c.682C>T (p.Arg228Ter)SNV Pathogenic 403974 rs1060500053 17:68171862-68171862 17:70175721-70175721
2 KCNJ2 NM_000891.2(KCNJ2):c.715G>T (p.Glu239Ter)SNV Pathogenic 463523 rs1555603974 17:68171895-68171895 17:70175754-70175754
3 KCNJ2 NM_000891.2(KCNJ2):c.1177G>T (p.Gly393Ter)SNV Pathogenic 638351 17:68172357-68172357 17:70176216-70176216
4 KCNJ2 NM_000891.2(KCNJ2):c.1102del (p.Leu368fs)deletion Pathogenic 569363 rs1567823248 17:68172281-68172281 17:70176140-70176140
5 KCNJ2 NM_000891.2(KCNJ2):c.212A>T (p.Asp71Val)SNV Pathogenic 8918 rs104894575 17:68171392-68171392 17:70175251-70175251
6 KCNJ2 NM_000891.2(KCNJ2):c.652C>T (p.Arg218Trp)SNV Pathogenic 8919 rs104894578 17:68171832-68171832 17:70175691-70175691
7 KCNJ2 NM_000891.2(KCNJ2):c.899G>T (p.Gly300Val)SNV Pathogenic 8920 rs104894579 17:68172079-68172079 17:70175938-70175938
8 KCNJ2 NM_000891.2(KCNJ2):c.199C>T (p.Arg67Trp)SNV Pathogenic 8923 rs104894580 17:68171379-68171379 17:70175238-70175238
9 KCNJ2 NM_000891.2(KCNJ2):c.557C>T (p.Pro186Leu)SNV Pathogenic 8924 rs104894581 17:68171737-68171737 17:70175596-70175596
10 KCNJ2 NM_000891.2(KCNJ2):c.904G>A (p.Val302Met)SNV Pathogenic 8925 rs104894582 17:68172084-68172084 17:70175943-70175943
11 KCNJ2 NM_000891.2(KCNJ2):c.646A>C (p.Asn216His)SNV Pathogenic 8926 rs104894583 17:68171826-68171826 17:70175685-70175685
12 KCNJ2 NM_000891.2(KCNJ2):c.224C>G (p.Thr75Arg)SNV Pathogenic 8928 rs104894585 17:68171404-68171404 17:70175263-70175263
13 KCNJ2 NM_000891.2(KCNJ2):c.161G>T (p.Cys54Phe)SNV Pathogenic 30119 rs199473650 17:68171341-68171341 17:70175200-70175200
14 KCNJ2 NM_000891.2(KCNJ2):c.913A>C (p.Thr305Pro)SNV Pathogenic 30120 rs199473387 17:68172093-68172093 17:70175952-70175952
15 KCNJ2 KCNJ2, 6-BP DEL, NT1167deletion Pathogenic 8922
16 KCNJ2 KCNJ2, 12-BP DEL, NT513deletion Pathogenic 8921
17 KCNJ2 NM_000891.2(KCNJ2):c.224C>T (p.Thr75Met)SNV Pathogenic 67565 rs104894585 17:68171404-68171404 17:70175263-70175263
18 KCNJ2 NM_000891.2(KCNJ2):c.233A>G (p.Asp78Gly)SNV Pathogenic 67567 rs199473371 17:68171413-68171413 17:70175272-70175272
19 KCNJ2 NM_000891.2(KCNJ2):c.244C>T (p.Arg82Trp)SNV Pathogenic 67568 rs199473373 17:68171424-68171424 17:70175283-70175283
20 KCNJ2 NM_000891.2(KCNJ2):c.431G>A (p.Gly144Asp)SNV Pathogenic 67574 rs199473377 17:68171611-68171611 17:70175470-70175470
21 KCNJ2 NM_000891.2(KCNJ2):c.431G>C (p.Gly144Ala)SNV Pathogenic 67575 rs199473377 17:68171611-68171611 17:70175470-70175470
22 KCNJ2 NM_000891.2(KCNJ2):c.644G>A (p.Gly215Asp)SNV Pathogenic 67583 rs199473383 17:68171824-68171824 17:70175683-70175683
23 KCNJ2 NM_000891.2(KCNJ2):c.653G>A (p.Arg218Gln)SNV Pathogenic 67585 rs199473384 17:68171833-68171833 17:70175692-70175692
24 KCNJ2 NM_000891.2(KCNJ2):c.899G>A (p.Gly300Asp)SNV Pathogenic 67588 rs104894579 17:68172079-68172079 17:70175938-70175938
25 KCNJ5 NM_000890.5(KCNJ5):c.472A>G (p.Thr158Ala)SNV Pathogenic 30125 rs387906778 11:128781640-128781640 11:128911745-128911745
26 KCNJ2 NM_000891.2(KCNJ2):c.271_282del (p.Ala91_Leu94del)deletion Pathogenic 208080 rs797044841 17:68171447-68171458 17:70175306-70175317
27 KCNJ2 NM_000891.2(KCNJ2):c.966G>C (p.Trp322Cys)SNV Pathogenic 208081 rs797044842 17:68172146-68172146 17:70176005-70176005
28 KCNJ2 NM_000891.2(KCNJ2):c.245G>A (p.Arg82Gln)SNV Pathogenic/Likely pathogenic 67569 rs199473653 17:68171425-68171425 17:70175284-70175284
29 KCNJ2 NM_000891.2(KCNJ2):c.913A>G (p.Thr305Ala)SNV Likely pathogenic 67591 rs199473387 17:68172093-68172093 17:70175952-70175952
30 KCNJ2 NM_000891.2(KCNJ2):c.934C>T (p.Arg312Cys)SNV Likely pathogenic 67594 rs199473389 17:68172114-68172114 17:70175973-70175973
31 KCNJ2 NM_000891.2(KCNJ2):c.407_409delinsTTT (p.Ser136_Ile137delinsPhePhe)indel Likely pathogenic 219878 rs864622292 17:68171587-68171589 17:70175446-70175448
32 KCNJ2 NM_000891.3(KCNJ2):c.434A>G (p.Tyr145Cys)SNV Likely pathogenic 858285 17:68171614-68171614 17:70175473-70175473
33 KCNJ2 NM_000891.2(KCNJ2):c.557C>A (p.Pro186Gln)SNV Likely pathogenic 652820 17:68171737-68171737 17:70175596-70175596
34 KCNJ2 NM_000891.3(KCNJ2):c.461G>A (p.Cys154Tyr)SNV Likely pathogenic 684808 rs199473380 17:68171641-68171641 17:70175500-70175500
35 KCNJ2 NM_000891.3(KCNJ2):c.896A>G (p.Glu299Gly)SNV Likely pathogenic 689769 17:68172076-68172076 17:70175935-70175935
36 KCNJ2 NM_000891.2(KCNJ2):c.919A>G (p.Met307Val)SNV Conflicting interpretations of pathogenicity 519476 rs1555603994 17:68172099-68172099 17:70175958-70175958
37 KCNJ2 NM_000891.2(KCNJ2):c.261C>T (p.Ile87=)SNV Conflicting interpretations of pathogenicity 451647 rs1166497262 17:68171441-68171441 17:70175300-70175300
38 KCNJ2 NM_000891.3(KCNJ2):c.303T>C (p.Cys101=)SNV Conflicting interpretations of pathogenicity 705806 17:68171483-68171483 17:70175342-70175342
39 KCNJ2 NM_000891.3(KCNJ2):c.1275G>A (p.Ser425=)SNV Conflicting interpretations of pathogenicity 889525 17:68172455-68172455 17:70176314-70176314
40 KCNJ2 NM_000891.3(KCNJ2):c.*35A>CSNV Conflicting interpretations of pathogenicity 889526 17:68172499-68172499 17:70176358-70176358
41 KCNJ2 NM_000891.3(KCNJ2):c.*572G>TSNV Conflicting interpretations of pathogenicity 889592 17:68173036-68173036 17:70176895-70176895
42 KCNJ2 NM_000891.3(KCNJ2):c.*1465A>GSNV Conflicting interpretations of pathogenicity 892130 17:68173929-68173929 17:70177788-70177788
43 KCNJ2 NM_000891.2(KCNJ2):c.211G>C (p.Asp71His)SNV Conflicting interpretations of pathogenicity 222676 rs199473369 17:68171391-68171391 17:70175250-70175250
44 KCNJ2 NM_000891.2(KCNJ2):c.168T>C (p.Val56=)SNV Conflicting interpretations of pathogenicity 285530 rs370111593 17:68171348-68171348 17:70175207-70175207
45 KCNJ2 NM_000891.2(KCNJ2):c.-349C>ASNV Conflicting interpretations of pathogenicity 324822 rs370696463 17:68165710-68165710 17:70169569-70169569
46 KCNJ2 NM_000891.2(KCNJ2):c.-314T>CSNV Conflicting interpretations of pathogenicity 324823 rs566186294 17:68165745-68165745 17:70169604-70169604
47 KCNJ2 NM_000891.2(KCNJ2):c.1229A>G (p.Asn410Ser)SNV Conflicting interpretations of pathogenicity 190804 rs141069645 17:68172409-68172409 17:70176268-70176268
48 KCNJ2 NM_000891.2(KCNJ2):c.901A>G (p.Met301Val)SNV Conflicting interpretations of pathogenicity 190816 rs786205818 17:68172081-68172081 17:70175940-70175940
49 KCNJ2 NM_000891.2(KCNJ2):c.935G>A (p.Arg312His)SNV Conflicting interpretations of pathogenicity 190820 rs786205820 17:68172115-68172115 17:70175974-70175974
50 KCNJ2 NM_000891.2(KCNJ2):c.*211T>CSNV Conflicting interpretations of pathogenicity 324837 rs56194813 17:68172675-68172675 17:70176534-70176534

UniProtKB/Swiss-Prot genetic disease variations for Andersen Cardiodysrhythmic Periodic Paralysis:

73
# Symbol AA change Variation ID SNP ID
1 KCNJ2 p.Arg67Trp VAR_017851 rs104894580
2 KCNJ2 p.Asp71Val VAR_017852 rs104894575
3 KCNJ2 p.Pro186Leu VAR_017854 rs104894581
4 KCNJ2 p.Asn216His VAR_017855 rs104894583
5 KCNJ2 p.Arg218Trp VAR_017856 rs104894578
6 KCNJ2 p.Gly300Val VAR_017857 rs104894579
7 KCNJ2 p.Val302Met VAR_017858 rs104894582
8 KCNJ2 p.Cys54Phe VAR_065861 rs199473650
9 KCNJ2 p.Thr75Arg VAR_065862 rs104894585
10 KCNJ2 p.Thr305Pro VAR_065864 rs199473387

Expression for Andersen Cardiodysrhythmic Periodic Paralysis

Search GEO for disease gene expression data for Andersen Cardiodysrhythmic Periodic Paralysis.

Pathways for Andersen Cardiodysrhythmic Periodic Paralysis

Pathways related to Andersen Cardiodysrhythmic Periodic Paralysis according to KEGG:

36
# Name Kegg Source Accession
1 Cholinergic synapse hsa04725

Pathways related to Andersen Cardiodysrhythmic Periodic Paralysis according to GeneCards Suite gene sharing:

(show all 24)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.94 SCN5A SCN4B SCN4A KCNJ5 CACNA1S CACNA1C
2
Show member pathways
12.91 KCNQ1 KCNJ5 KCNJ4 KCNJ2 KCNJ12 KCNH2
3
Show member pathways
12.73 RYR2 KCNQ1 KCNJ5 KCNJ4 KCNJ2 KCNJ18
4
Show member pathways
12.5 SCN5A SCN4B RYR2 KCNQ1 KCNE1 CACNA1S
5
Show member pathways
12.44 RYR2 KCNJ5 CASQ2 CACNA1S CACNA1C
6
Show member pathways
12.38 RYR2 KCNJ5 KCNJ4 KCNJ2 KCNJ18 KCNJ12
7 12.21 KCNQ1 KCNJ5 KCNJ4 KCNJ2 KCNJ12 KCNH2
8
Show member pathways
12.2 RYR2 CASQ2 CACNA1S CACNA1C
9
Show member pathways
12.2 SCN5A SCN4B SCN4A RYR2 KCNQ1 KCNJ4
10 12.12 SNTA1 SCN5A SCN4B RYR2 KCNQ1 KCNH2
11
Show member pathways
12.08 KCNQ1 KCNJ5 KCNJ4 KCNJ2 KCNJ12 KCNH2
12
Show member pathways
11.99 KCNJ5 KCNJ4 KCNJ2 KCNJ12
13
Show member pathways
11.93 SCN5A SCN4B SCN4A ANK2
14
Show member pathways
11.89 KCNJ5 KCNJ4 KCNJ2 KCNJ12
15 11.85 KCNJ5 CACNA1S CACNA1C
16 11.75 RYR2 CASQ2 CACNA1S CACNA1C
17
Show member pathways
11.73 SCN5A SCN4B SCN4A KCNQ1 KCNE2 KCNE1
18 11.63 KCNJ2 CACNA1S CACNA1C
19 11.59 KCNJ5 CACNA1S CACNA1C
20 11.52 KCNQ1 CACNA1S CACNA1C
21 11.52 SCN5A SCN4B RYR2 KCNQ1 KCNJ5 KCNJ4
22 11.43 RYR2 CACNA1S CACNA1C
23 11.26 SCN5A SCN4B SCN4A ANK2
24 10.95 KCNQ1 KCNJ2 KCNE1

GO Terms for Andersen Cardiodysrhythmic Periodic Paralysis

Cellular components related to Andersen Cardiodysrhythmic Periodic Paralysis according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.36 SNTA1 SCN5A SCN4B SCN4A RYR2 KCNQ1
2 integral component of membrane GO:0016021 10.33 SCN5A SCN4B SCN4A RYR2 KCNQ1 KCNJ5
3 plasma membrane GO:0005886 10.21 SNTA1 SCN5A SCN4B SCN4A RYR2 KCNQ1
4 cell surface GO:0009986 9.95 SCN5A KCNH2 KCNE2 KCNE1 CAV3
5 membrane raft GO:0045121 9.8 KCNQ1 KCNE1 CAV3 ANK2
6 sarcolemma GO:0042383 9.8 SNTA1 SCN5A RYR2 CAV3 CACNA1C ANK2
7 intercalated disc GO:0014704 9.77 SCN5A SCN4B KCNJ2 CAV3 ANK2
8 Z disc GO:0030018 9.7 SCN5A RYR2 KCNE1 CAV3 CASQ2 CACNA1C
9 voltage-gated sodium channel complex GO:0001518 9.61 SCN5A SCN4B SCN4A
10 dystrophin-associated glycoprotein complex GO:0016010 9.54 SNTA1 CAV3
11 intrinsic component of membrane GO:0031224 9.52 KCNJ2 KCNJ12
12 L-type voltage-gated calcium channel complex GO:1990454 9.51 CACNA1S CACNA1C
13 voltage-gated potassium channel complex GO:0008076 9.5 KCNQ1 KCNJ5 KCNJ4 KCNJ2 KCNH2 KCNE2
14 junctional sarcoplasmic reticulum membrane GO:0014701 9.48 RYR2 CASQ2
15 T-tubule GO:0030315 9.17 SCN5A KCNJ5 KCNJ2 CAV3 CACNA1S CACNA1C

Biological processes related to Andersen Cardiodysrhythmic Periodic Paralysis according to GeneCards Suite gene sharing:

(show top 50) (show all 61)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 10.18 SCN5A SCN4A RYR2 KCNQ1 KCNH2 CACNA1S
2 potassium ion transmembrane transport GO:0071805 10.07 KCNQ1 KCNJ4 KCNJ2 KCNH2 KCNE2 KCNE1
3 potassium ion transport GO:0006813 10.06 KCNQ1 KCNJ5 KCNJ4 KCNJ2 KCNJ18 KCNJ12
4 ion transmembrane transport GO:0034220 10.02 SCN5A RYR2 KCNJ4 CASQ2
5 ventricular cardiac muscle cell action potential GO:0086005 10.02 SNTA1 SCN5A RYR2 KCNQ1 KCNH2 KCNE2
6 cardiac muscle contraction GO:0060048 10.01 SCN5A SCN4B RYR2 KCNQ1 KCNH2 CASQ2
7 muscle contraction GO:0006936 10 SNTA1 SCN4A KCNJ12 CAV3 CACNA1S
8 potassium ion import across plasma membrane GO:1990573 10 KCNJ5 KCNJ4 KCNJ2 KCNJ18 KCNJ12 KCNH2
9 regulation of heart rate GO:0002027 9.97 SNTA1 SCN5A RYR2 CAV3 CASQ2 ANK2
10 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.97 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
11 regulation of heart rate by cardiac conduction GO:0086091 9.96 SCN5A SCN4B KCNQ1 KCNJ5 KCNJ2 KCNH2
12 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.92 KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
13 regulation of membrane repolarization GO:0060306 9.91 KCNQ1 KCNJ2 KCNH2 KCNE2 CASQ2
14 cardiac muscle cell action potential involved in contraction GO:0086002 9.91 SCN5A SCN4B KCNJ2 KCNE2 KCNE1 CACNA1C
15 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.9 RYR2 CASQ2 CACNA1C ANK2
16 sodium ion transmembrane transport GO:0035725 9.89 SCN5A SCN4B SCN4A
17 cellular response to drug GO:0035690 9.88 KCNQ1 KCNH2 KCNE2
18 positive regulation of potassium ion transmembrane transport GO:1901381 9.88 KCNQ1 KCNJ2 KCNH2 KCNE1
19 potassium ion export across plasma membrane GO:0097623 9.88 KCNQ1 KCNH2 KCNE2 KCNE1
20 membrane repolarization during action potential GO:0086011 9.88 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
21 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.87 SCN5A SCN4B KCNJ2 CACNA1C
22 membrane repolarization GO:0086009 9.86 KCNQ1 KCNH2 KCNE2 KCNE1
23 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.85 KCNQ1 KCNJ2 KCNH2 KCNE1
24 cardiac conduction GO:0061337 9.85 SCN5A KCNQ1 KCNJ4 KCNJ2 KCNJ12 KCNH2
25 regulation of heart contraction GO:0008016 9.84 KCNQ1 KCNJ12 CAV3
26 regulation of cardiac muscle contraction GO:0055117 9.82 RYR2 CAV3 ANK2
27 regulation of potassium ion transmembrane transport GO:1901379 9.81 KCNH2 KCNE2 KCNE1
28 membrane depolarization during action potential GO:0086010 9.8 SCN5A SCN4A KCNH2
29 regulation of cardiac muscle cell contraction GO:0086004 9.8 SCN5A KCNJ2 ANK2
30 regulation of ion transmembrane transport GO:0034765 9.8 SCN5A SCN4B SCN4A KCNQ1 KCNJ5 KCNJ4
31 cellular response to caffeine GO:0071313 9.79 RYR2 CASQ2 CACNA1S
32 atrial cardiac muscle cell action potential GO:0086014 9.79 SCN5A KCNQ1 ANK2
33 regulation of sodium ion transmembrane transporter activity GO:2000649 9.73 SCN4B CAV3
34 regulation of release of sequestered calcium ion into cytosol GO:0051279 9.73 CASQ2 ANK2
35 positive regulation of sodium ion transport GO:0010765 9.73 SCN5A SCN4B
36 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.72 KCNE2 KCNE1
37 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.72 RYR2 CACNA1C
38 calcium ion transport into cytosol GO:0060402 9.72 RYR2 CACNA1C
39 cellular response to epinephrine stimulus GO:0071872 9.72 RYR2 KCNQ1
40 detection of calcium ion GO:0005513 9.71 RYR2 CASQ2
41 negative regulation of potassium ion transmembrane transport GO:1901380 9.71 KCNH2 CAV3
42 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.71 RYR2 CACNA1C
43 T-tubule organization GO:0033292 9.71 CAV3 ANK2
44 regulation of sodium ion transmembrane transport GO:1902305 9.7 SNTA1 SCN5A
45 negative regulation of potassium ion transmembrane transporter activity GO:1901017 9.7 CAV3 CASQ2
46 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.7 SCN5A CAV3
47 regulation of cardiac muscle contraction by calcium ion signaling GO:0010882 9.69 RYR2 ANK2
48 regulation of delayed rectifier potassium channel activity GO:1902259 9.69 KCNE2 KCNE1
49 SA node cell action potential GO:0086015 9.69 SCN5A ANK2
50 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.68 SCN5A KCNQ1

Molecular functions related to Andersen Cardiodysrhythmic Periodic Paralysis according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.53 SNTA1 SCN5A SCN4A RYR2 KCNQ1 KCNJ5
2 ion channel activity GO:0005216 9.91 SCN5A SCN4A RYR2 KCNQ1 KCNH2 CACNA1S
3 calmodulin binding GO:0005516 9.88 SNTA1 SCN5A RYR2 KCNQ1 CACNA1S CACNA1C
4 ion channel binding GO:0044325 9.81 SNTA1 SCN5A SCN4B RYR2 KCNQ1 KCNE2
5 potassium channel activity GO:0005267 9.8 KCNQ1 KCNH2 KCNE2 KCNE1
6 calcium channel activity GO:0005262 9.77 RYR2 CACNA1S CACNA1C
7 voltage-gated potassium channel activity GO:0005249 9.76 KCNQ1 KCNH2 KCNE2 KCNE1
8 scaffold protein binding GO:0097110 9.74 SCN5A KCNQ1 KCNH2
9 delayed rectifier potassium channel activity GO:0005251 9.73 KCNQ1 KCNH2 KCNE2 KCNE1
10 sodium channel regulator activity GO:0017080 9.71 SNTA1 SCN4B CAV3
11 sodium channel activity GO:0005272 9.7 SCN5A SCN4B SCN4A
12 voltage-gated sodium channel activity GO:0005248 9.69 SCN5A SCN4B SCN4A
13 nitric-oxide synthase binding GO:0050998 9.65 SNTA1 SCN5A CAV3
14 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.65 KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
15 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.62 KCNQ1 KCNJ2 KCNH2 KCNE1
16 protein kinase A catalytic subunit binding GO:0034236 9.58 RYR2 KCNQ1
17 high voltage-gated calcium channel activity GO:0008331 9.58 CACNA1S CACNA1C
18 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.56 SCN5A SCN4B
19 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization GO:0086089 9.55 KCNQ1 KCNJ5
20 inward rectifier potassium channel activity GO:0005242 9.5 KCNJ5 KCNJ4 KCNJ2 KCNJ18 KCNJ12 KCNH2
21 voltage-gated ion channel activity GO:0005244 9.47 SCN5A SCN4B SCN4A KCNQ1 KCNJ5 KCNJ4

Sources for Andersen Cardiodysrhythmic Periodic Paralysis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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