LQT7
MCID: AND019
MIFTS: 63

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 57 12 53 74
Andersen-Tawil Syndrome 57 12 24 53 25 59 74 37 15
Andersen Syndrome 57 12 25 59 74 13 55 44 72
Lqt7 57 12 53 25 59 74
Long Qt Syndrome 7 57 12 53 25 74
Periodic Paralysis, Potassium-Sensitive Cardiodysrhythmic Type 57 53 74
Andersen Tawil Syndrome 29 6 40
Ats 57 25 74
Long Qt Syndrome Type 7 24 59
Potassium-Sensitive Periodic Paralysis, Ventricular Ectopy, and Dysmorphic Features 53
Potassium-Sensitive Cardiodysrhythmic Type 12
Andersen-Tawil Syndrome; Ats 57
Long Qt Syndrome 7; Lqt7 57
Andersen's Disease 75
Lqts Type 7 24

Characteristics:

Orphanet epidemiological data:

59
andersen-tawil syndrome
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

57
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:

32
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: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050434
KEGG 37 H00748
MeSH 44 D050030
NCIt 50 C84559
ICD10 via Orphanet 34 G72.3
UMLS via Orphanet 73 C1563715
Orphanet 59 ORPHA37553
MedGen 42 C1563715
UMLS 72 C1563715

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 malignant hyperthermia and myotonia congenita, 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 Circadian entrainment. The drugs Acetazolamide and Natriuretic Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and eye, and related phenotypes are specific learning disability and malar flattening

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 : 53 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 : 57 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 : 37
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 : 74 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 : 75 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 7795)
# Related Disease Score Top Affiliating Genes
1 malignant hyperthermia 31.5 SCN4A CACNA1S
2 myotonia congenita 31.2 SCN4A CACNA1S
3 periodic paralyses 30.8 SCN4A KCNJ2 CACNA1S
4 thyrotoxic periodic paralysis 30.6 KCNJ2 CACNA1S
5 sudden infant death syndrome 30.3 SCN5A KCNQ1 KCNH2
6 hypokalemia 30.3 KCNH2 CACNA1S
7 heart disease 30.2 SCN5A KCNQ1 KCNJ2 KCNH2
8 familial periodic paralysis 30.1 SCN4A KCNJ2 CACNA1S
9 arrhythmogenic right ventricular cardiomyopathy 29.9 SCN5A KCNH2 CACNA1S ANK2
10 hyperkalemic periodic paralysis 29.9 SCN4A KCNJ2 CACNA1S
11 hypokalemic periodic paralysis, type 1 29.8 SCN4A KCNJ2 CACNA1S
12 timothy syndrome 29.4 KCNQ1 KCNH2 KCNE1
13 cardiac arrest 29.2 SCN5A KCNQ1 KCNH2 ANK2
14 long qt syndrome 13 29.2 SCN5A KCNQ1 KCNJ5 KCNH2
15 malignant hyperthermia susceptibility 29.1 SCN4A CACNA1S
16 brugada syndrome 1 29.0 SCN5A KCNH2
17 cardiac conduction defect 28.9 SCN5A KCNQ1 KCNH2
18 jervell and lange-nielsen syndrome 1 28.9 SCN5A KCNQ1 KCNH2 KCNE1
19 catecholaminergic polymorphic ventricular tachycardia 28.9 SCN5A KCNJ2 KCNH2 ANK2
20 coffin-siris syndrome 4 28.8 SCN5A SCN4A
21 familial atrial fibrillation 28.8 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE1
22 ventricular fibrillation, paroxysmal familial, 1 28.7 SCN5A KCNQ1 KCNJ5 KCNH2 KCNE1
23 syncope 28.6 SCN5A KCNQ1 KCNJ2 KCNH2
24 atrial fibrillation 28.5 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE1 ANK2
25 atrioventricular block 28.5 SCN5A KCNQ1 KCNH2 KCNE1
26 short qt syndrome 28.5 KCNQ1 KCNJ2 KCNH2 KCNE1
27 familial short qt syndrome 28.3 KCNQ1 KCNJ2 KCNH2
28 cardiac arrhythmia 27.9 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE1 ANK2
29 brugada syndrome 27.4 SCN5A SCN4A KCNQ1 KCNH2 KCNE1 ANK2
30 long qt syndrome 1 27.2 SCN5A KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE1
31 long qt syndrome 27.0 SCN5A KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE1
32 long qt syndrome 3 26.4 SCN5A KCNQ1 KCNH2 KCNE1 ANK2
33 long qt syndrome 2 26.1 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE1 ANK2
34 menarche, age at, quantitative trait locus 1 12.4
35 menopause, natural, age at, quantitative trait locus 1 12.3
36 menopause, natural, age at, quantitative trait locus 2 12.3
37 menopause, natural, age at, quantitative trait locus 4 12.3
38 menarche, age at, quantitative trait locus 2 12.2
39 menarche, age at, quantitative trait locus 3 12.2
40 teeth present at birth 12.2
41 cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk 12.2
42 ear antitragus, tag at base of 12.1
43 pulmonary fungal infections in patients deemed at risk 12.1
44 poliomyelitis in patients with immunodeficiencies deemed at risk 12.1
45 obsolete: tauopathy with a major tau doublet at 60 and 64 kda 12.1
46 obsolete: tauopathy with a major tau at 60 kda 12.1
47 obsolete: tauopathy with a major tau triplet at 60, 64 and 69 kda 12.1
48 obsolete: tauopathy with a major tau doublet at 64 and 69 kda 12.1
49 ataxia-telangiectasia 12.0
50 arterial tortuosity syndrome 11.9

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:

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
short palpebral fissures

Skeletal Spine:
scoliosis

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

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

Growth Height:
stature (<10th percentile)

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)

Head And Neck Ears:
low-set ears
preauricular pits

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
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
Head And Neck Nose:
bulbous nasal tip

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.5 CACNA1S GBE1 KCNH2 KCNJ2 KCNJ5 KCNQ1
2 muscle MP:0005369 9.17 CACNA1S GBE1 KCNH2 KCNJ2 KCNQ1 SCN4A

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 Natriuretic Agents Phase 1
3 diuretics Phase 1
4 Anticonvulsants Phase 1
5 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:

41
Heart, Kidney, Eye, Bone, Testes, Skeletal Muscle

Publications for Andersen Cardiodysrhythmic Periodic Paralysis

Articles related to Andersen Cardiodysrhythmic Periodic Paralysis:

(show top 50) (show all 202)
# Title Authors PMID Year
1
KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes. 9 4 8 71
12148092 2002
2
Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). 9 4 8 71
12163457 2002
3
Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome. 9 38 8 71
16571646 2006
4
Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. 4 8 71
11371347 2001
5
Corticosteroid-exacerbated symptoms in an Andersen's syndrome kindred. 9 8 71
17324964 2007
6
Andersen-Tawil syndrome: definition of a neurocognitive phenotype. 9 38 4 8
16769944 2006
7
PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome. 9 38 4 8
12796536 2003
8
Andersen-Tawil syndrome: prospective cohort analysis and expansion of the phenotype. 38 4 8
16419128 2006
9
Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation. 38 4 8
16217063 2005
10
Mutations of KCNJ2 gene associated with Andersen-Tawil syndrome in Korean families. 9 38 8
17211524 2007
11
Alterations in conserved Kir channel-PIP2 interactions underlie channelopathies. 4 8
12086641 2002
12
Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features. 4 8
8080508 1994
13
Intermittent muscular weakness, extrasystoles, and multiple developmental anomalies. A new syndrome? 4 8
4106724 1971
14
A novel neuropsychiatric phenotype of KCNJ2 mutation in one Taiwanese family with Andersen-Tawil syndrome. 38 8
20111058 2010
15
Trafficking-competent and trafficking-defective KCNJ2 mutations in Andersen syndrome. 9 38 4
16541386 2006
16
Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype. 9 38 4
15911703 2005
17
Andersen-Tawil Syndrome 38 71
20301441 2004
18
Long QT Syndrome 38 71
20301308 2003
19
Prevalence and mutation spectrum of skeletal muscle channelopathies in the Netherlands. 38 4
29606556 2018
20
Review of the Diagnosis and Treatment of Periodic Paralysis. 38 4
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. 38 4
28336205 2017
22
Flecainide ameliorates arrhythmogenicity through NCX flux in Andersen-Tawil syndrome-iPS cell-derived cardiomyocytes. 38 4
28956012 2017
23
Reversible Dilated Cardiomyopathy Caused by a High Burden of Ventricular Arrhythmias in Andersen-Tawil Syndrome. 38 4
27789106 2016
24
Identification of the KCNJ2 Mutation in a Korean Family with Andersen-Tawil Syndrome and Developmental Delay. 38 4
26927354 2016
25
Efficacy and safety of flecainide for ventricular arrhythmias in patients with Andersen-Tawil syndrome with KCNJ2 mutations. 38 4
25496985 2015
26
Mosaic KCNJ2 mutation in Andersen-Tawil syndrome: targeted deep sequencing is useful for the detection of mosaicism. 38 4
24635491 2015
27
A Kir3.4 mutation causes Andersen-Tawil syndrome by an inhibitory effect on Kir2.1. 38 4
24574546 2014
28
Array comparative genomic hybridization identifies a heterozygous deletion of the entire KCNJ2 gene as a cause of sudden cardiac death. 38 4
24395924 2014
29
Cardiac characteristics and long-term outcome in Andersen-Tawil syndrome patients related to KCNJ2 mutation. 38 4
23867365 2013
30
Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. 71
23994779 2013
31
Novel mutation in the KCNJ2 gene is associated with a malignant arrhythmic phenotype of Andersen-Tawil syndrome. 38 4
24047492 2013
32
Non dominant-negative KCNJ2 gene mutations leading to Andersen-Tawil syndrome with an isolated cardiac phenotype. 38 4
23644778 2013
33
Prevalence study of genetically defined skeletal muscle channelopathies in England. 38 4
23516313 2013
34
Delineating the 17q24.2-q24.3 microdeletion syndrome phenotype. 38 4
22982078 2012
35
Phenotype variability in patients carrying KCNJ2 mutations. 38 4
22589293 2012
36
Characterization of a novel, dominant negative KCNJ2 mutation associated with Andersen-Tawil syndrome. 38 4
22186697 2011
37
A novel KCNJ2 nonsense mutation, S369X, impedes trafficking and causes a limited form of Andersen-Tawil syndrome. 38 4
21493816 2011
38
Biophysical and molecular characterization of a novel de novo KCNJ2 mutation associated with Andersen-Tawil syndrome and catecholaminergic polymorphic ventricular tachycardia mimicry. 38 4
21148745 2011
39
Refined exercise testing can aid DNA-based diagnosis in muscle channelopathies. 38 4
21387378 2011
40
Kir 2.1 channelopathies: the Andersen-Tawil syndrome. 38 4
20306271 2010
41
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 71
20298421 2010
42
Resuscitated sudden cardiac death in Andersen-Tawil syndrome. 38 4
19959136 2009
43
Andersen-Tawil syndrome: management challenges during pregnancy, labor, and delivery. 38 4
18554214 2008
44
Reduction of complex ventricular ectopy and improvement in exercise capacity with flecainide therapy in Andersen-Tawil syndrome. 38 4
18621769 2008
45
Flecainide suppresses bidirectional ventricular tachycardia and reverses tachycardia-induced cardiomyopathy in Andersen-Tawil syndrome. 38 4
17655675 2008
46
Management and treatment of Andersen-Tawil syndrome (ATS). 38 4
17395133 2007
47
Flecainide for recurrent malignant ventricular arrhythmias in two siblings with Andersen-Tawil syndrome. 38 4
17399642 2007
48
Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome. 38 4
17221872 2007
49
A family with Andersen-Tawil syndrome and dilated cardiomyopathy. 38 4
17074642 2006
50
Andersen-Tawil syndrome: a model of clinical variability, pleiotropy, and genetic heterogeneity. 38 4
15176430 2004

Variations for Andersen Cardiodysrhythmic Periodic Paralysis

ClinVar genetic disease variations for Andersen Cardiodysrhythmic Periodic Paralysis:

6 (show top 50) (show all 166)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 KCNJ2 NM_000891.2(KCNJ2): c.682C> T (p.Arg228Ter) single nucleotide variant Pathogenic rs1060500053 17:68171862-68171862 17:70175721-70175721
2 KCNJ2 NM_000891.2(KCNJ2): c.715G> T (p.Glu239Ter) single nucleotide variant Pathogenic rs1555603974 17:68171895-68171895 17:70175754-70175754
3 KCNJ2 NM_000891.2(KCNJ2): c.212A> T (p.Asp71Val) single nucleotide variant Pathogenic rs104894575 17:68171392-68171392 17:70175251-70175251
4 KCNJ2 NM_000891.2(KCNJ2): c.652C> T (p.Arg218Trp) single nucleotide variant Pathogenic rs104894578 17:68171832-68171832 17:70175691-70175691
5 KCNJ2 NM_000891.2(KCNJ2): c.899G> T (p.Gly300Val) single nucleotide variant Pathogenic rs104894579 17:68172079-68172079 17:70175938-70175938
6 KCNJ2 KCNJ2, 12-BP DEL, NT513 deletion Pathogenic
7 KCNJ2 KCNJ2, 6-BP DEL, NT1167 deletion Pathogenic
8 KCNJ2 NM_000891.2(KCNJ2): c.199C> T (p.Arg67Trp) single nucleotide variant Pathogenic rs104894580 17:68171379-68171379 17:70175238-70175238
9 KCNJ2 NM_000891.2(KCNJ2): c.557C> T (p.Pro186Leu) single nucleotide variant Pathogenic rs104894581 17:68171737-68171737 17:70175596-70175596
10 KCNJ2 NM_000891.2(KCNJ2): c.904G> A (p.Val302Met) single nucleotide variant Pathogenic rs104894582 17:68172084-68172084 17:70175943-70175943
11 KCNJ2 NM_000891.2(KCNJ2): c.646A> C (p.Asn216His) single nucleotide variant Pathogenic rs104894583 17:68171826-68171826 17:70175685-70175685
12 KCNJ2 NM_000891.2(KCNJ2): c.224C> G (p.Thr75Arg) single nucleotide variant Pathogenic rs104894585 17:68171404-68171404 17:70175263-70175263
13 KCNJ2 NM_000891.2(KCNJ2): c.161G> T (p.Cys54Phe) single nucleotide variant Pathogenic rs199473650 17:68171341-68171341 17:70175200-70175200
14 KCNJ2 NM_000891.2(KCNJ2): c.913A> C (p.Thr305Pro) single nucleotide variant Pathogenic rs199473387 17:68172093-68172093 17:70175952-70175952
15 KCNJ5 NM_000890.5(KCNJ5): c.472A> G (p.Thr158Ala) single nucleotide variant Pathogenic rs387906778 11:128781640-128781640 11:128911745-128911745
16 KCNJ2 NM_000891.2(KCNJ2): c.224C> T (p.Thr75Met) single nucleotide variant Pathogenic rs104894585 17:68171404-68171404 17:70175263-70175263
17 KCNJ2 NM_000891.2(KCNJ2): c.233A> G (p.Asp78Gly) single nucleotide variant Pathogenic rs199473371 17:68171413-68171413 17:70175272-70175272
18 KCNJ2 NM_000891.2(KCNJ2): c.244C> T (p.Arg82Trp) single nucleotide variant Pathogenic rs199473373 17:68171424-68171424 17:70175283-70175283
19 KCNJ2 NM_000891.2(KCNJ2): c.431G> A (p.Gly144Asp) single nucleotide variant Pathogenic rs199473377 17:68171611-68171611 17:70175470-70175470
20 KCNJ2 NM_000891.2(KCNJ2): c.644G> A (p.Gly215Asp) single nucleotide variant Pathogenic rs199473383 17:68171824-68171824 17:70175683-70175683
21 KCNJ2 NM_000891.2(KCNJ2): c.653G> A (p.Arg218Gln) single nucleotide variant Pathogenic rs199473384 17:68171833-68171833 17:70175692-70175692
22 KCNJ2 NM_000891.2(KCNJ2): c.899G> A (p.Gly300Asp) single nucleotide variant Pathogenic rs104894579 17:68172079-68172079 17:70175938-70175938
23 KCNJ2 NM_000891.2(KCNJ2): c.913A> G (p.Thr305Ala) single nucleotide variant Pathogenic rs199473387 17:68172093-68172093 17:70175952-70175952
24 KCNJ2 NM_000891.2(KCNJ2): c.271_282del (p.Ala91_Leu94del) deletion Pathogenic rs797044841 17:68171451-68171462 17:70175310-70175321
25 KCNJ2 NM_000891.2(KCNJ2): c.966G> C (p.Trp322Cys) single nucleotide variant Pathogenic rs797044842 17:68172146-68172146 17:70176005-70176005
26 KCNJ2 NM_000891.2(KCNJ2): c.1177G> T (p.Gly393Ter) single nucleotide variant Pathogenic 17:68172357-68172357 17:70176216-70176216
27 KCNJ2 NM_000891.2(KCNJ2): c.1102del (p.Leu368fs) deletion Pathogenic 17:68172282-68172282 17:70176141-70176141
28 KCNJ2 NM_000891.2(KCNJ2): c.245G> A (p.Arg82Gln) single nucleotide variant Pathogenic/Likely pathogenic rs199473653 17:68171425-68171425 17:70175284-70175284
29 KCNJ2 NM_000891.2(KCNJ2): c.407_409delinsTTT (p.Ser136_Ile137delinsPhePhe) indel Likely pathogenic rs864622292 17:68171587-68171589 17:70175446-70175448
30 KCNJ2 NM_000891.2(KCNJ2): c.211G> C (p.Asp71His) single nucleotide variant Likely pathogenic rs199473369 17:68171391-68171391 17:70175250-70175250
31 KCNJ2 NM_000891.2(KCNJ2): c.168T> C (p.Val56=) single nucleotide variant Conflicting interpretations of pathogenicity rs370111593 17:68171348-68171348 17:70175207-70175207
32 KCNJ5 NM_000890.5(KCNJ5): c.1159G> C (p.Gly387Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs199830292 11:128786525-128786525 11:128916630-128916630
33 KCNJ2 NM_000891.2(KCNJ2): c.226T> G (p.Cys76Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs786205812 17:68171406-68171406 17:70175265-70175265
34 KCNJ2 NM_000891.2(KCNJ2): c.901A> G (p.Met301Val) single nucleotide variant Conflicting interpretations of pathogenicity rs786205818 17:68172081-68172081 17:70175940-70175940
35 KCNJ2 NM_000891.2(KCNJ2): c.935G> A (p.Arg312His) single nucleotide variant Conflicting interpretations of pathogenicity rs786205820 17:68172115-68172115 17:70175974-70175974
36 KCNJ2 NM_000891.2(KCNJ2): c.277G> A (p.Val93Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs147750704 17:68171457-68171457 17:70175316-70175316
37 KCNJ2 NM_000891.2(KCNJ2): c.919A> G (p.Met307Val) single nucleotide variant Conflicting interpretations of pathogenicity rs1555603994 17:68172099-68172099 17:70175958-70175958
38 KCNJ2 NM_000891.2(KCNJ2): c.261C> T (p.Ile87=) single nucleotide variant Conflicting interpretations of pathogenicity rs1166497262 17:68171441-68171441 17:70175300-70175300
39 KCNJ2 NM_000891.2(KCNJ2): c.-228C> T single nucleotide variant Conflicting interpretations of pathogenicity rs765064661 17:68165831-68165831 17:70169690-70169690
40 KCNJ2 NM_000891.2(KCNJ2): c.901A> C (p.Met301Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs786205818 17:68172081-68172081 17:70175940-70175940
41 KCNJ2 NM_000891.2(KCNJ2): c.1229A> G (p.Asn410Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141069645 17:68172409-68172409 17:70176268-70176268
42 KCNJ2 NM_000891.2(KCNJ2): c.794C> T (p.Ser265Phe) single nucleotide variant Uncertain significance 17:68171974-68171974 17:70175833-70175833
43 KCNJ2 NM_000891.2(KCNJ2): c.1196G> C (p.Ser399Thr) single nucleotide variant Uncertain significance 17:68172376-68172376 17:70176235-70176235
44 KCNJ2 NM_000891.2(KCNJ2): c.119G> C (p.Arg40Pro) single nucleotide variant Uncertain significance rs766143485 17:68171299-68171299 17:70175158-70175158
45 KCNJ2 NM_000891.2(KCNJ2): c.1091A> G (p.Lys364Arg) single nucleotide variant Uncertain significance rs1060500054 17:68172271-68172271 17:70176130-70176130
46 KCNJ2 NM_000891.2(KCNJ2): c.416C> T (p.Thr139Ile) single nucleotide variant Uncertain significance rs1060500052 17:68171596-68171596 17:70175455-70175455
47 KCNJ2 NM_000891.2(KCNJ2): c.*3353C> T single nucleotide variant Uncertain significance rs886053346 17:68175817-68175817 17:70179676-70179676
48 KCNJ2 NM_000891.2(KCNJ2): c.344C> T (p.Ala115Val) single nucleotide variant Uncertain significance rs886053323 17:68171524-68171524 17:70175383-70175383
49 KCNJ2 NM_000891.2(KCNJ2): c.*2663T> C single nucleotide variant Uncertain significance rs886053338 17:68175127-68175127 17:70178986-70178986
50 KCNJ2 NM_000891.2(KCNJ2): c.*2771_*2775del deletion Uncertain significance rs35656864 17:68175235-68175239 17:70179094-70179098

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

74
# 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:

37
# Name Kegg Source Accession
1 Cholinergic synapse hsa04725

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

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.7 KCNQ1 KCNJ5 KCNJ2 CACNA1S
2
Show member pathways
12.68 SCN5A SCN4A KCNJ5 CACNA1S
3
Show member pathways
12.65 KCNQ1 KCNJ5 KCNJ2 KCNH2
4
Show member pathways
12.6 SCN5A KCNQ1 KCNJ5 KCNE1 CACNA1S
5
Show member pathways
12.53 SCN5A SCN4A KCNQ1 KCNJ2 KCNH2 KCNE1
6 11.99 KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE1 CACNA1S
7
Show member pathways
11.88 KCNQ1 KCNJ5 KCNJ2 KCNH2
8 11.86 SCN5A KCNQ1 KCNH2
9
Show member pathways
11.73 SCN5A SCN4A ANK2
10 11.3 KCNQ1 CACNA1S
11
Show member pathways
11.23 SCN5A SCN4A KCNQ1 KCNE1 CACNA1S
12 11.02 SCN5A SCN4A ANK2
13 10.92 SCN5A KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE1
14 10.78 KCNQ1 KCNJ2 KCNE1

GO Terms for Andersen Cardiodysrhythmic Periodic Paralysis

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

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.91 SCN5A SCN4A KCNQ1 KCNJ5 KCNJ2 KCNH2
2 membrane raft GO:0045121 9.61 KCNQ1 KCNE1 ANK2
3 Z disc GO:0030018 9.58 SCN5A KCNE1 ANK2
4 voltage-gated sodium channel complex GO:0001518 9.37 SCN5A SCN4A
5 voltage-gated potassium channel complex GO:0008076 9.35 KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE1
6 intercalated disc GO:0014704 9.33 SCN5A KCNJ2 ANK2
7 sarcolemma GO:0042383 9.32 SCN5A ANK2
8 T-tubule GO:0030315 9.02 SCN5A KCNJ5 KCNJ2 CACNA1S ANK2
9 membrane GO:0016020 10.13 SCN5A SCN4A KCNQ1 KCNJ5 KCNJ2 KCNH2
10 integral component of membrane GO:0016021 10.06 SCN5A SCN4A KCNQ1 KCNJ5 KCNJ2 KCNH2

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

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.99 SCN5A SCN4A KCNQ1 KCNH2 CACNA1S
2 potassium ion transmembrane transport GO:0071805 9.88 KCNQ1 KCNJ2 KCNH2 KCNE1
3 potassium ion transport GO:0006813 9.88 KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE1
4 cardiac muscle contraction GO:0060048 9.76 SCN5A KCNQ1 KCNH2
5 positive regulation of potassium ion transmembrane transport GO:1901381 9.76 KCNQ1 KCNJ2 KCNH2 KCNE1
6 membrane depolarization during action potential GO:0086010 9.74 SCN5A SCN4A KCNH2
7 cardiac muscle cell action potential involved in contraction GO:0086002 9.73 SCN5A KCNJ2 KCNE1
8 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.73 KCNQ1 KCNJ5 KCNH2 KCNE1
9 potassium ion export across plasma membrane GO:0097623 9.72 KCNQ1 KCNH2 KCNE1
10 regulation of cardiac muscle cell contraction GO:0086004 9.71 SCN5A KCNJ2 ANK2
11 regulation of membrane repolarization GO:0060306 9.7 KCNQ1 KCNJ2 KCNH2
12 membrane repolarization GO:0086009 9.69 KCNQ1 KCNH2 KCNE1
13 atrial cardiac muscle cell action potential GO:0086014 9.67 SCN5A KCNQ1 ANK2
14 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.67 KCNQ1 KCNJ2 KCNH2 KCNE1
15 cellular response to cAMP GO:0071320 9.65 KCNQ1 KCNE1
16 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.65 SCN5A KCNQ1 KCNH2 KCNE1 ANK2
17 potassium ion import across plasma membrane GO:1990573 9.64 KCNJ5 KCNJ2
18 regulation of heart rate GO:0002027 9.64 SCN5A ANK2
19 neuronal action potential GO:0019228 9.63 SCN5A SCN4A
20 regulation of potassium ion transmembrane transport GO:1901379 9.63 KCNH2 KCNE1
21 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.62 SCN5A KCNJ2
22 SA node cell action potential GO:0086015 9.62 SCN5A ANK2
23 membrane repolarization during action potential GO:0086011 9.62 KCNQ1 KCNJ2 KCNH2 KCNE1
24 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.61 SCN5A KCNQ1
25 membrane repolarization during atrial cardiac muscle cell action potential GO:0098914 9.61 KCNQ1 KCNJ5
26 membrane depolarization during SA node cell action potential GO:0086046 9.6 SCN5A ANK2
27 regulation of ion transmembrane transport GO:0034765 9.56 SCN5A SCN4A KCNQ1 KCNJ5 KCNJ2 KCNH2
28 ventricular cardiac muscle cell action potential GO:0086005 9.55 SCN5A KCNQ1 KCNH2 KCNE1 ANK2
29 regulation of heart rate by cardiac conduction GO:0086091 9.17 SCN5A KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE1
30 ion transport GO:0006811 10.01 SCN5A SCN4A KCNQ1 KCNJ5 KCNJ2 KCNH2

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.71 SCN5A KCNQ1 CACNA1S
2 ion channel activity GO:0005216 9.69 SCN5A SCN4A KCNH2
3 potassium channel activity GO:0005267 9.65 KCNQ1 KCNH2 KCNE1
4 voltage-gated potassium channel activity GO:0005249 9.63 KCNQ1 KCNH2 KCNE1
5 ion channel binding GO:0044325 9.62 SCN5A KCNQ1 KCNE1 ANK2
6 scaffold protein binding GO:0097110 9.61 SCN5A KCNQ1 KCNH2
7 sodium channel activity GO:0005272 9.55 SCN5A SCN4A
8 delayed rectifier potassium channel activity GO:0005251 9.54 KCNQ1 KCNH2 KCNE1
9 voltage-gated sodium channel activity GO:0005248 9.52 SCN5A SCN4A
10 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.46 KCNQ1 KCNJ5 KCNH2 KCNE1
11 inward rectifier potassium channel activity GO:0005242 9.43 KCNJ5 KCNJ2 KCNH2
12 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization GO:0086089 9.4 KCNQ1 KCNJ5
13 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.26 KCNQ1 KCNJ2 KCNH2 KCNE1
14 G-protein activated inward rectifier potassium channel activity GO:0015467 9.19 KCNJ5
15 voltage-gated ion channel activity GO:0005244 9.17 SCN5A SCN4A KCNQ1 KCNJ5 KCNJ2 KCNH2

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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