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 57 12 53 59 75
Andersen-Tawil Syndrome 57 12 24 53 25 59 75 37 15
Andersen Syndrome 57 12 25 59 75 13 55 44 73
Lqt7 57 12 53 25 59 75
Long Qt Syndrome 7 57 12 53 25 75
Ats 57 12 25 75
Periodic Paralysis, Potassium-Sensitive Cardiodysrhythmic Type 57 53 75
Andersen Tawil Syndrome 29 6 40
Long Qt Syndrome Type 7 24 59
Potassium-Sensitive Periodic Paralysis, Ventricular Ectopy, and Dysmorphic Features 53
Cardiodysrhythmic Potassium-Sensitive Periodic Paralysis 59
Potassium-Sensitive Cardiodysrhythmic Type 12
Andersen-Tawil Syndrome; Ats 57
Long Qt Syndrome 7; Lqt7 57
Lqts Type 7 24

Characteristics:

Orphanet epidemiological data:

59
cardiodysrhythmic potassium-sensitive periodic paralysis
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


Summaries for Andersen Cardiodysrhythmic Periodic Paralysis

NIH Rare Diseases : 53 Andersen-Tawil syndromeis 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.

MalaCards based summary : Andersen Cardiodysrhythmic Periodic Paralysis, also known as andersen-tawil syndrome, is related to familial periodic paralysis and malignant hyperthermia, and has symptoms including syncope An important gene associated with Andersen Cardiodysrhythmic Periodic Paralysis is KCNJ2 (Potassium Voltage-Gated Channel Subfamily J Member 2), and among its related pathways/superpathways are Cholinergic synapse and Transmission across Chemical Synapses. The drugs Acetazolamide and diuretics have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and bone, and related phenotypes are malar flattening and hypertelorism

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.

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.

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)

UniProtKB/Swiss-Prot : 75 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.

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 5275)
# Related Disease Score Top Affiliating Genes
1 familial periodic paralysis 32.7 SCN4A KCNJ2 CACNA1S
2 malignant hyperthermia 31.1 SCN4A RYR2 CACNA1S
3 hyperkalemic periodic paralysis 31.0 SCN4A KCNJ2 CACNA1S
4 sudden infant death syndrome 31.0 SCN5A RYR2 KCNQ1 KCNH2
5 central core disease of muscle 30.9 RYR2 CACNA1S
6 cardiac conduction defect 30.8 SCN5A RYR2 KCNQ1 KCNH2
7 syncope 30.7 SCN5A KCNQ1 KCNJ2 KCNH2
8 cardiac arrest 30.6 SCN5A RYR2 KCNQ1 KCNH2 ANK2
9 hypokalemic periodic paralysis, type 1 30.6 SCN4A KCNJ2 CACNA1S
10 catecholaminergic polymorphic ventricular tachycardia 30.5 SCN5A RYR2 KCNJ2 KCNH2 ANK2
11 brugada syndrome 30.4 SCN5A SCN4A KCNQ1 KCNH2 KCNE2 KCNE1
12 atrial fibrillation 30.1 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 KCNE2
13 familial atrial fibrillation 30.1 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
14 heart disease 30.0 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 KCNE2
15 jervell and lange-nielsen syndrome 1 30.0 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
16 short qt syndrome 29.6 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
17 left bundle branch hemiblock 29.5 SCN5A PTS
18 atrioventricular block 29.0 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
19 cardiac arrhythmia 28.9 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 KCNE2
20 arrhythmogenic right ventricular cardiomyopathy 28.9 SCN5A RYR2 KCNH2 CACNA1S ANK2
21 long qt syndrome 28.8 SCN5A RYR2 KCNQ1 KCNJ5 KCNJ2 KCNH2
22 ventricular fibrillation, paroxysmal familial, 1 28.8 SCN5A RYR2 KCNQ1 KCNJ5 KCNH2 KCNE2
23 third-degree atrioventricular block 28.8 SCN5A KCNE2
24 left ventricular noncompaction 28.7 SCN5A RYR2 KCNQ1
25 long qt syndrome 3 28.0 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1 ANK2
26 menarche, age at, quantitative trait locus 1 12.1
27 menopause, natural, age at, quantitative trait locus 1 12.1
28 menopause, natural, age at, quantitative trait locus 2 12.1
29 menopause, natural, age at, quantitative trait locus 4 12.1
30 cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk 12.0
31 ear antitragus, tag at base of 12.0
32 teeth present at birth 12.0
33 menarche, age at, quantitative trait locus 2 12.0
34 menarche, age at, quantitative trait locus 3 12.0
35 pulmonary fungal infections in patients deemed at risk 12.0
36 poliomyelitis in patients with immunodeficiencies deemed at risk 12.0
37 arterial tortuosity syndrome 11.8
38 ataxia-telangiectasia 11.8
39 ceroid lipofuscinosis, neuronal, 1 11.7
40 antithrombin iii deficiency 11.7
41 nijmegen breakage syndrome 11.6
42 atypical teratoid rhabdoid tumor 11.5
43 alport syndrome, x-linked 11.4
44 hereditary antithrombin deficiency 11.4
45 leiomyomatosis, diffuse, with alport syndrome 11.3
46 neural tube defects 11.3
47 ceroid lipofuscinosis, neuronal, 2 11.2
48 ceroid lipofuscinosis, neuronal, 5 11.1
49 amme complex 11.1
50 ceroid lipofuscinosis, neuronal, 6 11.1

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
short palpebral fissures

Skeletal Spine:
scoliosis

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

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
prolonged qtc
bidirectional ventricular ectopy

Skeletal Skull:
short mandibular rami
small mandible
small maxilla
prominent frontal sinuses
condylar resorption
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

Human phenotypes related to Andersen Cardiodysrhythmic Periodic Paralysis:

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

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 9.7 AGTR2 CACNA1S GBE1 KCNH2 KCNJ12 KCNJ2
2 muscle MP:0005369 9.32 AGTR2 CACNA1S GBE1 KCNH2 KCNJ2 KCNQ1

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 Carbonic Anhydrase Inhibitors Phase 1
4 Anticonvulsants Phase 1
5 Natriuretic Agents Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect of Potassium and Acetazolamide on People With Andersen-Tawil Syndrome Terminated NCT00839501 Phase 1 Acetazolamide
2 Characteristics of Andersen-Tawil Syndrome 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, Bone, Skin, Brain, Breast, T Cells

Publications for Andersen Cardiodysrhythmic Periodic Paralysis

Articles related to Andersen Cardiodysrhythmic Periodic Paralysis:

(show top 50) (show all 101)
# Title Authors Year
1
Response to flecainide test in Andersen-Tawil syndrome with incessant ventricular tachycardia. ( 29023786 )
2018
2
Neurophysiologic characterization of periodic paralysis episode in a patient with Andersen-Tawil syndrome. ( 29353185 )
2018
3
Propafenone is not effective for severe ventricular arrhythmias in Andersen-Tawil syndrome. ( 29379555 )
2018
4
Can flecainide totally eliminate bidirectional ventricular tachycardia in pediatric patients with Andersen-Tawil syndrome? ( 30516532 )
2018
5
Short-term Response to Phenytoin Sodium in Andersen-Tawil Syndrome-1 with a Cardiac-Dominant Phenotype. ( 30516834 )
2018
6
Variable penetrance of Andersen-Tawil syndrome in a family with a rare missense KCNJ2 mutation. ( 30533530 )
2018
7
Andersen-Tawil syndrome: Clinical presentation and predictors of symptomatic arrhythmias - Possible role of polymorphisms K897T in KCNH2 and H558R in SCN5A gene. ( 28336205 )
2017
8
Different responses to exercise between Andersen-Tawil syndrome and catecholaminergic polymorphic ventricular tachycardia. ( 29309601 )
2017
9
Characterization of a novel KCNJ2 sequence variant detected in Andersen-Tawil syndrome patients. ( 29017447 )
2017
10
Andersen-Tawil Syndrome with Early Onset Myopathy: 2 Cases. ( 28106564 )
2017
11
Intrafamilial phenotypic variability in Andersen-Tawil syndrome: A diagnostic challenge in a potentially treatable condition. ( 28024840 )
2017
12
Flecainide treats a novel KCNJ2 mutation associated with Andersen-Tawil syndrome. ( 28491792 )
2017
13
Flecainide ameliorates arrhythmogenicity through NCX flux in Andersen-Tawil syndrome-iPS cell-derived cardiomyocytes. ( 28956012 )
2017
14
Clinical heterogeneity in Andersen-Tawil syndrome. ( 29032928 )
2017
15
Sanger sequencing as a first-line approach for molecular diagnosis of Andersen-Tawil syndrome. ( 29093808 )
2017
16
Identification of the KCNJ2 Mutation in a Korean Family with Andersen-Tawil Syndrome and Developmental Delay. ( 26927354 )
2016
17
Coexistence of Andersen-Tawil Syndrome with Polymorphisms in hERG1 Gene (K897T) and SCN5A Gene (H558R) in One Family. ( 26109178 )
2016
18
Reversible Dilated Cardiomyopathy Caused by a High Burden of Ventricular Arrhythmias in Andersen-Tawil Syndrome. ( 27789106 )
2016
19
Andersen-Tawil syndrome. A diagnostic challenge. ( 26736094 )
2016
20
Bioelectric signalling via potassium channels: a mechanism for craniofacial dysmorphogenesis in KCNJ2-associated Andersen-Tawil Syndrome. ( 26864374 )
2016
21
Clinical features and long exercise test in Chinese patients with Andersen-Tawil syndrome. ( 27145478 )
2016
22
Rarity and phenotypic heterogeneity provide challenges in the diagnosis of Andersen-Tawil syndrome: Two cases presenting with ECGs mimicking catecholaminergic polymorphic ventricular tachycardia (CPVT). ( 26322597 )
2015
23
Vanishing Weakness and Persistent Cardiac Dysrhythmia: Are We Dealing with Andersen Tawil Syndrome? ( 25616308 )
2015
24
Efficacy and safety of flecainide for ventricular arrhythmias in patients with Andersen-Tawil syndrome with KCNJ2 mutations. ( 25496985 )
2015
25
Abnormal electroencephalogram, epileptic seizures, structural congenital heart disease and aborted sudden cardiac death in Andersen-Tawil syndrome. ( 25463366 )
2015
26
Child Neurology: Andersen-Tawil syndrome. ( 25780024 )
2015
27
Imipramine for incessant ventricular arrhythmias in 2 unrelated patients with Andersen-Tawil syndrome. ( 25814423 )
2015
28
Case report: A Chinese child with Andersen-Tawil syndrome due to a de novo KCNJ2 mutation. ( 25847018 )
2015
29
Recurrent syncope in the Andersen Tawil syndrome - Cardiac or neurological? ( 26937109 )
2015
30
Identification and functional characterisation of a novel KCNJ2 mutation, Val302del, causing Andersen-Tawil syndrome. ( 26103554 )
2015
31
Andersen-Tawil syndrome: A review of literature. ( 26448239 )
2015
32
Atrial pacing for the management of ventricular arrhythmias in Andersen-Tawil syndrome. ( 28491582 )
2015
33
Electrocardiogram in Andersen-Tawil syndrome. New electrocardiographic criteria for diagnosis of type-1 Andersen-Tawil syndrome. ( 24827800 )
2014
34
Effect of flecainide on T-wave alternans in Andersen-Tawil syndrome. ( 25040481 )
2014
35
Mosaic KCNJ2 Mutation in Andersen-Tawil syndrome: Targeted Deep Sequencing is Useful for the Detection of Mosaicism. ( 24635491 )
2014
36
Andersen-Tawil syndrome with early fixed myopathy. ( 25415519 )
2014
37
A case of Andersen-Tawil syndrome presenting periodic paralysis exacerbated by acetazolamide. ( 25284084 )
2014
38
Andersen-Tawil syndrome: Report of 3 novel mutations and high risk of symptomatic cardiac involvement. ( 24861851 )
2014
39
Should a cardioverter-defibrillator be implanted in an Andersen-Tawil syndrome patient with severe ventricular arrhythmias and syncope? ( 25155849 )
2014
40
Lack of efficacy of radiofrequency catheter ablation in Andersen-Tawil syndrome: are we targeting the right spot? ( 24473499 )
2014
41
Severe exacerbation of Andersen-Tawil syndrome secondary to thyrotoxicosis. ( 24849934 )
2014
42
A Kir3.4 mutation causes Andersen-Tawil syndrome by an inhibitory effect on Kir2.1. ( 24574546 )
2014
43
Clinodactyly and syndactyly - diagnostic clues for Andersen-Tawil syndrome. ( 25410461 )
2014
44
Novel mutation in the KCNJ2 gene is associated with a malignant arrhythmic phenotype of Andersen-Tawil syndrome. ( 24047492 )
2013
45
Andersen-Tawil syndrome: clinical and molecular aspects. ( 24383070 )
2013
46
Ventricular tachyarrhythmias in a patient with andersen-tawil syndrome. ( 23407770 )
2013
47
Non dominant-negative KCNJ2 gene mutations leading to Andersen-Tawil syndrome with an isolated cardiac phenotype. ( 23644778 )
2013
48
Combined inhibition of Na(+) and Ca(2+) channels: A novel paradigm for the treatment of incessant ventricular arrhythmias in Andersen-Tawil syndrome. ( 24211314 )
2013
49
Cardiac characteristics and long-term outcome in Andersen-Tawil syndrome patients related to KCNJ2 mutation. ( 23867365 )
2013
50
Andersen-Tawil syndrome presenting as a fixed myopathy. ( 23568766 )
2013

Variations for Andersen Cardiodysrhythmic Periodic Paralysis

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

75
# 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

ClinVar genetic disease variations for Andersen Cardiodysrhythmic Periodic Paralysis:

6 (show top 50) (show all 302)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNJ5 NM_000890.3(KCNJ5): c.1159G> C (p.Gly387Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs199830292 GRCh37 Chromosome 11, 128786525: 128786525
2 KCNJ5 NM_000890.3(KCNJ5): c.1159G> C (p.Gly387Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs199830292 GRCh38 Chromosome 11, 128916630: 128916630
3 KCNJ2 NM_000891.2(KCNJ2): c.212A> T (p.Asp71Val) single nucleotide variant Pathogenic rs104894575 GRCh37 Chromosome 17, 68171392: 68171392
4 KCNJ2 NM_000891.2(KCNJ2): c.212A> T (p.Asp71Val) single nucleotide variant Pathogenic rs104894575 GRCh38 Chromosome 17, 70175251: 70175251
5 KCNJ2 NM_000891.2(KCNJ2): c.652C> T (p.Arg218Trp) single nucleotide variant Pathogenic rs104894578 GRCh37 Chromosome 17, 68171832: 68171832
6 KCNJ2 NM_000891.2(KCNJ2): c.652C> T (p.Arg218Trp) single nucleotide variant Pathogenic rs104894578 GRCh38 Chromosome 17, 70175691: 70175691
7 KCNJ2 NM_000891.2(KCNJ2): c.899G> T (p.Gly300Val) single nucleotide variant Pathogenic rs104894579 GRCh37 Chromosome 17, 68172079: 68172079
8 KCNJ2 NM_000891.2(KCNJ2): c.899G> T (p.Gly300Val) single nucleotide variant Pathogenic rs104894579 GRCh38 Chromosome 17, 70175938: 70175938
9 KCNJ2 KCNJ2, 12-BP DEL, NT513 deletion Pathogenic
10 KCNJ2 KCNJ2, 6-BP DEL, NT1167 deletion Pathogenic
11 KCNJ2 NM_000891.2(KCNJ2): c.199C> T (p.Arg67Trp) single nucleotide variant Pathogenic rs104894580 GRCh37 Chromosome 17, 68171379: 68171379
12 KCNJ2 NM_000891.2(KCNJ2): c.199C> T (p.Arg67Trp) single nucleotide variant Pathogenic rs104894580 GRCh38 Chromosome 17, 70175238: 70175238
13 KCNJ2 NM_000891.2(KCNJ2): c.557C> T (p.Pro186Leu) single nucleotide variant Pathogenic rs104894581 GRCh37 Chromosome 17, 68171737: 68171737
14 KCNJ2 NM_000891.2(KCNJ2): c.557C> T (p.Pro186Leu) single nucleotide variant Pathogenic rs104894581 GRCh38 Chromosome 17, 70175596: 70175596
15 KCNJ2 NM_000891.2(KCNJ2): c.904G> A (p.Val302Met) single nucleotide variant Pathogenic rs104894582 GRCh37 Chromosome 17, 68172084: 68172084
16 KCNJ2 NM_000891.2(KCNJ2): c.904G> A (p.Val302Met) single nucleotide variant Pathogenic rs104894582 GRCh38 Chromosome 17, 70175943: 70175943
17 KCNJ2 NM_000891.2(KCNJ2): c.646A> C (p.Asn216His) single nucleotide variant Pathogenic rs104894583 GRCh37 Chromosome 17, 68171826: 68171826
18 KCNJ2 NM_000891.2(KCNJ2): c.646A> C (p.Asn216His) single nucleotide variant Pathogenic rs104894583 GRCh38 Chromosome 17, 70175685: 70175685
19 KCNJ2 NM_000891.2(KCNJ2): c.224C> G (p.Thr75Arg) single nucleotide variant Pathogenic rs104894585 GRCh37 Chromosome 17, 68171404: 68171404
20 KCNJ2 NM_000891.2(KCNJ2): c.224C> G (p.Thr75Arg) single nucleotide variant Pathogenic rs104894585 GRCh38 Chromosome 17, 70175263: 70175263
21 KCNJ2 NM_000891.2(KCNJ2): c.161G> T (p.Cys54Phe) single nucleotide variant Pathogenic rs199473650 GRCh37 Chromosome 17, 68171341: 68171341
22 KCNJ2 NM_000891.2(KCNJ2): c.161G> T (p.Cys54Phe) single nucleotide variant Pathogenic rs199473650 GRCh38 Chromosome 17, 70175200: 70175200
23 KCNJ2 NM_000891.2(KCNJ2): c.913A> C (p.Thr305Pro) single nucleotide variant Pathogenic rs199473387 GRCh37 Chromosome 17, 68172093: 68172093
24 KCNJ2 NM_000891.2(KCNJ2): c.913A> C (p.Thr305Pro) single nucleotide variant Pathogenic rs199473387 GRCh38 Chromosome 17, 70175952: 70175952
25 KCNJ2 NM_000891.2(KCNJ2): c.277G> A (p.Val93Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs147750704 GRCh37 Chromosome 17, 68171457: 68171457
26 KCNJ2 NM_000891.2(KCNJ2): c.277G> A (p.Val93Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs147750704 GRCh38 Chromosome 17, 70175316: 70175316
27 KCNJ5 NM_000890.4(KCNJ5): c.472A> G (p.Thr158Ala) single nucleotide variant Pathogenic rs387906778 GRCh37 Chromosome 11, 128781640: 128781640
28 KCNJ5 NM_000890.4(KCNJ5): c.472A> G (p.Thr158Ala) single nucleotide variant Pathogenic rs387906778 GRCh38 Chromosome 11, 128911745: 128911745
29 KCNJ2 NM_000891.2(KCNJ2): c.660C> T (p.Ser220=) single nucleotide variant Benign rs7221086 GRCh37 Chromosome 17, 68171840: 68171840
30 KCNJ2 NM_000891.2(KCNJ2): c.660C> T (p.Ser220=) single nucleotide variant Benign rs7221086 GRCh38 Chromosome 17, 70175699: 70175699
31 KCNJ2 NM_000891.2(KCNJ2): c.224C> T (p.Thr75Met) single nucleotide variant Pathogenic rs104894585 GRCh37 Chromosome 17, 68171404: 68171404
32 KCNJ2 NM_000891.2(KCNJ2): c.224C> T (p.Thr75Met) single nucleotide variant Pathogenic rs104894585 GRCh38 Chromosome 17, 70175263: 70175263
33 KCNJ2 NM_000891.2(KCNJ2): c.233A> G (p.Asp78Gly) single nucleotide variant Pathogenic rs199473371 GRCh37 Chromosome 17, 68171413: 68171413
34 KCNJ2 NM_000891.2(KCNJ2): c.233A> G (p.Asp78Gly) single nucleotide variant Pathogenic rs199473371 GRCh38 Chromosome 17, 70175272: 70175272
35 KCNJ2 NM_000891.2(KCNJ2): c.244C> T (p.Arg82Trp) single nucleotide variant Pathogenic rs199473373 GRCh37 Chromosome 17, 68171424: 68171424
36 KCNJ2 NM_000891.2(KCNJ2): c.244C> T (p.Arg82Trp) single nucleotide variant Pathogenic rs199473373 GRCh38 Chromosome 17, 70175283: 70175283
37 KCNJ2 NM_000891.2(KCNJ2): c.245G> A (p.Arg82Gln) single nucleotide variant Pathogenic/Likely pathogenic rs199473653 GRCh37 Chromosome 17, 68171425: 68171425
38 KCNJ2 NM_000891.2(KCNJ2): c.245G> A (p.Arg82Gln) single nucleotide variant Pathogenic/Likely pathogenic rs199473653 GRCh38 Chromosome 17, 70175284: 70175284
39 KCNJ2 NM_000891.2(KCNJ2): c.431G> A (p.Gly144Asp) single nucleotide variant Pathogenic rs199473377 GRCh37 Chromosome 17, 68171611: 68171611
40 KCNJ2 NM_000891.2(KCNJ2): c.431G> A (p.Gly144Asp) single nucleotide variant Pathogenic rs199473377 GRCh38 Chromosome 17, 70175470: 70175470
41 KCNJ2 NM_000891.2(KCNJ2): c.644G> A (p.Gly215Asp) single nucleotide variant Pathogenic rs199473383 GRCh37 Chromosome 17, 68171824: 68171824
42 KCNJ2 NM_000891.2(KCNJ2): c.644G> A (p.Gly215Asp) single nucleotide variant Pathogenic rs199473383 GRCh38 Chromosome 17, 70175683: 70175683
43 KCNJ2 NM_000891.2(KCNJ2): c.653G> A (p.Arg218Gln) single nucleotide variant Pathogenic rs199473384 GRCh37 Chromosome 17, 68171833: 68171833
44 KCNJ2 NM_000891.2(KCNJ2): c.653G> A (p.Arg218Gln) single nucleotide variant Pathogenic rs199473384 GRCh38 Chromosome 17, 70175692: 70175692
45 KCNJ2 NM_000891.2(KCNJ2): c.899G> A (p.Gly300Asp) single nucleotide variant Pathogenic rs104894579 GRCh37 Chromosome 17, 68172079: 68172079
46 KCNJ2 NM_000891.2(KCNJ2): c.899G> A (p.Gly300Asp) single nucleotide variant Pathogenic rs104894579 GRCh38 Chromosome 17, 70175938: 70175938
47 KCNJ2 NM_000891.2(KCNJ2): c.913A> G (p.Thr305Ala) single nucleotide variant Pathogenic rs199473387 GRCh37 Chromosome 17, 68172093: 68172093
48 KCNJ2 NM_000891.2(KCNJ2): c.913A> G (p.Thr305Ala) single nucleotide variant Pathogenic rs199473387 GRCh38 Chromosome 17, 70175952: 70175952
49 KCNJ2 NM_000891.2(KCNJ2): c.174C> T (p.Phe58=) single nucleotide variant Benign/Likely benign rs587781006 GRCh37 Chromosome 17, 68171354: 68171354
50 KCNJ2 NM_000891.2(KCNJ2): c.174C> T (p.Phe58=) single nucleotide variant Benign/Likely benign rs587781006 GRCh38 Chromosome 17, 70175213: 70175213

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 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.87 KCNH2 KCNJ12 KCNJ2 KCNJ4 KCNJ5 KCNQ1
2
Show member pathways
12.87 CACNA1S KCNJ12 KCNJ2 KCNJ4 KCNJ5 KCNQ1
3
Show member pathways
12.59 AGTR2 CACNA1S KCNE1 KCNJ5 KCNQ1 RYR2
4
Show member pathways
12.55 CACNA1S KCNJ12 KCNJ2 KCNJ4 KCNJ5 RYR2
5
Show member pathways
12.42 CACNA1S KCNE1 KCNE2 KCNH2 KCNJ12 KCNJ2
6 12.16 CACNA1S KCNE1 KCNE2 KCNH2 KCNJ12 KCNJ2
7 12.04 KCNH2 KCNQ1 RYR2 SCN5A
8
Show member pathways
11.97 KCNH2 KCNJ12 KCNJ2 KCNJ4 KCNJ5 KCNQ1
9
Show member pathways
11.94 KCNJ12 KCNJ2 KCNJ4 KCNJ5
10
Show member pathways
11.84 KCNJ12 KCNJ2 KCNJ4 KCNJ5
11
Show member pathways
11.82 ANK2 SCN4A SCN5A
12
Show member pathways
11.61 CACNA1S KCNE1 KCNE2 KCNQ1 SCN4A SCN5A
13 11.15 ANK2 SCN4A SCN5A
14 11.07 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNJ4
15 10.86 KCNE1 KCNJ2 KCNQ1

GO Terms for Andersen Cardiodysrhythmic Periodic Paralysis

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.8 ANK2 KCNE1 KCNE2 KCNQ1
2 Z disc GO:0030018 9.71 ANK2 KCNE1 RYR2 SCN5A
3 sarcolemma GO:0042383 9.67 ANK2 CACNA1S RYR2 SCN5A
4 intercalated disc GO:0014704 9.61 ANK2 KCNJ2 SCN5A
5 intrinsic component of membrane GO:0031224 9.48 KCNJ12 KCNJ2
6 voltage-gated sodium channel complex GO:0001518 9.46 SCN4A SCN5A
7 T-tubule GO:0030315 9.35 ANK2 CACNA1S KCNJ2 KCNJ5 SCN5A
8 voltage-gated potassium channel complex GO:0008076 9.17 KCNE1 KCNE2 KCNH2 KCNJ2 KCNJ4 KCNJ5
9 membrane GO:0016020 10.19 AGTR2 ANK2 CACNA1S IKBIP KCNE1 KCNE2
10 plasma membrane GO:0005886 10.17 AGTR2 ANK2 CACNA1S KCNE1 KCNE2 KCNH2
11 integral component of membrane GO:0016021 10.06 AGTR2 CACNA1S IKBIP KCNE1 KCNE2 KCNH2

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

(show all 45)
# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.98 KCNJ4 KCNQ1 RYR2 SCN5A
2 regulation of ion transmembrane transport GO:0034765 9.9 CACNA1S KCNE1 KCNE2 KCNH2 KCNJ12 KCNJ2
3 potassium ion import across plasma membrane GO:1990573 9.89 KCNE2 KCNJ12 KCNJ2 KCNJ4 KCNJ5
4 cardiac muscle contraction GO:0060048 9.88 KCNH2 KCNQ1 RYR2 SCN5A
5 cardiac muscle cell action potential involved in contraction GO:0086002 9.88 KCNE1 KCNE2 KCNJ2 SCN5A
6 calcium ion transport GO:0006816 9.87 CACNA1S RYR2 SMDT1
7 muscle contraction GO:0006936 9.86 CACNA1S KCNJ12 SCN4A
8 positive regulation of potassium ion transmembrane transport GO:1901381 9.86 KCNE1 KCNH2 KCNJ2 KCNQ1
9 potassium ion export across plasma membrane GO:0097623 9.85 KCNE1 KCNE2 KCNH2 KCNQ1
10 potassium ion import GO:0010107 9.85 KCNE2 KCNJ12 KCNJ2 KCNJ4 KCNJ5
11 cellular response to drug GO:0035690 9.84 KCNE2 KCNH2 KCNQ1
12 potassium ion export GO:0071435 9.84 KCNE1 KCNE2 KCNH2 KCNQ1
13 regulation of membrane repolarization GO:0060306 9.83 KCNE2 KCNH2 KCNJ2 KCNQ1
14 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.83 KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
15 membrane repolarization GO:0086009 9.81 KCNE1 KCNE2 KCNH2 KCNQ1
16 regulation of heart rate GO:0002027 9.8 ANK2 RYR2 SCN5A
17 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.8 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
18 regulation of potassium ion transmembrane transport GO:1901379 9.79 KCNE1 KCNE2 KCNH2
19 membrane depolarization during action potential GO:0086010 9.78 KCNH2 SCN4A SCN5A
20 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.78 KCNE1 KCNH2 KCNJ2 KCNQ1
21 regulation of cardiac muscle cell contraction GO:0086004 9.77 ANK2 KCNJ2 SCN5A
22 atrial cardiac muscle cell action potential GO:0086014 9.77 ANK2 KCNQ1 SCN5A
23 membrane repolarization during action potential GO:0086011 9.77 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
24 positive regulation of heart rate GO:0010460 9.69 KCNQ1 RYR2
25 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.69 ANK2 RYR2
26 regulation of cardiac muscle contraction GO:0055117 9.69 ANK2 RYR2
27 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.68 KCNE1 KCNE2
28 cellular response to epinephrine stimulus GO:0071872 9.68 KCNQ1 RYR2
29 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.67 KCNJ2 SCN5A
30 cellular response to caffeine GO:0071313 9.67 CACNA1S RYR2
31 regulation of cardiac muscle contraction by calcium ion signaling GO:0010882 9.67 ANK2 RYR2
32 regulation of delayed rectifier potassium channel activity GO:1902259 9.66 KCNE1 KCNE2
33 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.65 KCNQ1 SCN5A
34 SA node cell action potential GO:0086015 9.65 ANK2 SCN5A
35 membrane depolarization during SA node cell action potential GO:0086046 9.65 ANK2 SCN5A
36 membrane repolarization during atrial cardiac muscle cell action potential GO:0098914 9.64 KCNJ5 KCNQ1
37 sarcoplasmic reticulum calcium ion transport GO:0070296 9.64 ANK2 RYR2
38 regulation of atrial cardiac muscle cell action potential GO:0098910 9.63 ANK2 RYR2
39 regulation of SA node cell action potential GO:0098907 9.62 ANK2 RYR2
40 regulation of heart rate by cardiac conduction GO:0086091 9.56 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNJ5
41 ventricular cardiac muscle cell action potential GO:0086005 9.17 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 RYR2
42 transmembrane transport GO:0055085 10.11 CACNA1S KCNH2 KCNQ1 RYR2 SCN4A SCN5A
43 ion transport GO:0006811 10.07 CACNA1S KCNE1 KCNE2 KCNH2 KCNJ12 KCNJ2
44 potassium ion transmembrane transport GO:0071805 10.04 KCNE1 KCNE2 KCNH2 KCNJ2 KCNJ4 KCNQ1
45 potassium ion transport GO:0006813 10.01 KCNE1 KCNE2 KCNH2 KCNJ12 KCNJ2 KCNJ4

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 ion channel binding GO:0044325 9.85 ANK2 KCNE1 KCNE2 KCNQ1 RYR2 SCN5A
2 calmodulin binding GO:0005516 9.81 CACNA1S KCNQ1 RYR2 SCN5A
3 ion channel activity GO:0005216 9.8 KCNH2 RYR2 SCN4A SCN5A
4 potassium channel activity GO:0005267 9.76 KCNE1 KCNE2 KCNH2 KCNQ1
5 voltage-gated potassium channel activity GO:0005249 9.73 KCNE1 KCNE2 KCNH2 KCNQ1
6 delayed rectifier potassium channel activity GO:0005251 9.71 KCNE1 KCNE2 KCNH2 KCNQ1
7 scaffold protein binding GO:0097110 9.7 KCNH2 KCNQ1 SCN5A
8 G-protein activated inward rectifier potassium channel activity GO:0015467 9.62 KCNJ12 KCNJ2 KCNJ4 KCNJ5
9 protein kinase A regulatory subunit binding GO:0034237 9.56 KCNQ1 RYR2
10 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.56 KCNE1 KCNH2 KCNJ2 KCNQ1
11 voltage-gated sodium channel activity GO:0005248 9.55 SCN4A SCN5A
12 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.55 KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
13 protein kinase A catalytic subunit binding GO:0034236 9.54 KCNQ1 RYR2
14 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization GO:0086089 9.48 KCNJ5 KCNQ1
15 inward rectifier potassium channel activity GO:0005242 9.43 KCNE2 KCNH2 KCNJ12 KCNJ2 KCNJ4 KCNJ5
16 voltage-gated ion channel activity GO:0005244 9.32 CACNA1S KCNE2 KCNH2 KCNJ12 KCNJ2 KCNJ4

Sources for Andersen Cardiodysrhythmic Periodic Paralysis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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