LQT7
MCID: AND019
MIFTS: 63

Andersen Cardiodysrhythmic Periodic Paralysis (LQT7)

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

Aliases & Classifications for Andersen Cardiodysrhythmic Periodic Paralysis

MalaCards integrated aliases for Andersen Cardiodysrhythmic Periodic Paralysis:

Name: Andersen Cardiodysrhythmic Periodic Paralysis 58 12 54 76
Andersen-Tawil Syndrome 58 12 25 54 26 60 76 38 15
Andersen Syndrome 58 12 26 60 76 13 56 45 74
Lqt7 58 12 54 26 60 76
Long Qt Syndrome 7 58 12 54 26 76
Periodic Paralysis, Potassium-Sensitive Cardiodysrhythmic Type 58 54 76
Andersen Tawil Syndrome 30 6 41
Ats 58 26 76
Long Qt Syndrome Type 7 25 60
Potassium-Sensitive Periodic Paralysis, Ventricular Ectopy, and Dysmorphic Features 54
Potassium-Sensitive Cardiodysrhythmic Type 12
Andersen-Tawil Syndrome; Ats 58
Long Qt Syndrome 7; Lqt7 58
Lqts Type 7 25

Characteristics:

Orphanet epidemiological data:

60
andersen-tawil syndrome
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

58
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:

33
andersen cardiodysrhythmic periodic paralysis:
Inheritance autosomal dominant inheritance


GeneReviews:

25
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: 60  
Rare neurological diseases


Summaries for Andersen Cardiodysrhythmic Periodic Paralysis

NIH Rare Diseases : 54 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 thyrotoxic periodic paralysis, 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 G-Beta Gamma Signaling. The drugs Acetazolamide and Anticonvulsants have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and bone, 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.

Genetics Home Reference : 26 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 : 58 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 : 76 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 : 77 Andersen–Tawil syndrome, also called Andersen syndrome and Long QT syndrome 7, is a rare genetic... 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 5381)
# Related Disease Score Top Affiliating Genes
1 familial periodic paralysis 32.5 CACNA1S KCNJ2 SCN4A
2 thyrotoxic periodic paralysis 31.3 CACNA1S KCNJ2
3 malignant hyperthermia 31.2 CACNA1S SCN4A
4 myotonia congenita 31.0 CACNA1S SCN4A
5 hyperkalemic periodic paralysis 30.9 CACNA1S KCNJ2 SCN4A
6 sudden infant death syndrome 30.5 KCNH2 KCNQ1 SCN5A
7 hypokalemic periodic paralysis, type 1 30.4 CACNA1S KCNJ2 SCN4A
8 cardiac conduction defect 30.4 KCNH2 KCNQ1 SCN5A
9 catecholaminergic polymorphic ventricular tachycardia 30.1 SCN5A KCNJ2 KCNH2 ANK2
10 cardiac arrest 30.0 ANK2 KCNH2 KCNQ1 SCN5A
11 syncope 29.9 SCN5A KCNQ1 KCNJ2 KCNH2
12 heart disease 29.5 KCNH2 KCNJ2 KCNQ1 SCN5A
13 brugada syndrome 29.3 SCN5A SCN4A KCNQ1 KCNH2 KCNE1 ANK2
14 jervell and lange-nielsen syndrome 1 29.3 SCN5A KCNQ1 KCNH2 KCNE1
15 atrial fibrillation 29.3 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE1 ANK2
16 familial atrial fibrillation 29.3 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE1
17 short qt syndrome 29.0 KCNQ1 KCNJ2 KCNH2 KCNE1
18 hypokalemia 28.9 CACNA1S KCNH2
19 arrhythmogenic right ventricular cardiomyopathy 28.5 ANK2 CACNA1S KCNH2 SCN5A
20 ventricular fibrillation, paroxysmal familial, 1 28.5 SCN5A KCNQ1 KCNJ5 KCNH2 KCNE1
21 atrioventricular block 28.4 SCN5A KCNQ1 KCNH2 KCNE1
22 cardiac arrhythmia 28.1 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE1 ANK2
23 long qt syndrome 27.8 SCN5A KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE1
24 long qt syndrome 3 27.1 SCN5A KCNQ1 KCNH2 KCNE1 ANK2
25 menarche, age at, quantitative trait locus 1 12.1
26 menopause, natural, age at, quantitative trait locus 1 12.1
27 menopause, natural, age at, quantitative trait locus 2 12.1
28 menopause, natural, age at, quantitative trait locus 4 12.1
29 cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk 12.1
30 ear antitragus, tag at base of 12.0
31 teeth present at birth 12.0
32 menarche, age at, quantitative trait locus 2 12.0
33 menarche, age at, quantitative trait locus 3 12.0
34 pulmonary fungal infections in patients deemed at risk 12.0
35 poliomyelitis in patients with immunodeficiencies deemed at risk 12.0
36 arterial tortuosity syndrome 11.9
37 ataxia-telangiectasia 11.8
38 antithrombin iii deficiency 11.7
39 ceroid lipofuscinosis, neuronal, 1 11.7
40 nijmegen breakage syndrome 11.6
41 atypical teratoid rhabdoid tumor 11.6
42 hereditary antithrombin deficiency 11.4
43 leiomyomatosis, diffuse, with alport syndrome 11.3
44 neural tube defects 11.3
45 ceroid lipofuscinosis, neuronal, 2 11.2
46 neuroblastoma 11.1
47 ceroid lipofuscinosis, neuronal, 5 11.1
48 amme complex 11.1
49 ceroid lipofuscinosis, neuronal, 6 11.1
50 parkinson disease 10 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

Human phenotypes related to Andersen Cardiodysrhythmic Periodic Paralysis:

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

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Andersen Cardiodysrhythmic Periodic Paralysis:


syncope

MGI Mouse Phenotypes related to Andersen Cardiodysrhythmic Periodic Paralysis:

47
# 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 Anticonvulsants Phase 1
3 Natriuretic Agents Phase 1
4 Carbonic Anhydrase Inhibitors Phase 1
5 diuretics 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 30 KCNJ2

Anatomical Context for Andersen Cardiodysrhythmic Periodic Paralysis

MalaCards organs/tissues related to Andersen Cardiodysrhythmic Periodic Paralysis:

42
Heart, Kidney, Bone, Testes

Publications for Andersen Cardiodysrhythmic Periodic Paralysis

Articles related to Andersen Cardiodysrhythmic Periodic Paralysis:

(show top 50) (show all 103)
# Title Authors Year
1
Coincidence of Andersen-Tawil syndrome and Marfan syndrome: A case report. ( 30672637 )
2019
2
Short-term response to phenytoin sodium in Andersen-Tawil syndrome-1 with a cardiac-dominant phenotype. ( 30516834 )
2019
3
A study supporting possible expression of Kir2.1 channels in peripheral nerve in a patient with Andersen-Tawil syndrome. ( 30681175 )
2019
4
Response to flecainide test in Andersen-Tawil syndrome with incessant ventricular tachycardia. ( 29023786 )
2018
5
Neurophysiologic characterization of periodic paralysis episode in a patient with Andersen-Tawil syndrome. ( 29353185 )
2018
6
Propafenone is not effective for severe ventricular arrhythmias in Andersen-Tawil syndrome. ( 29379555 )
2018
7
Can flecainide totally eliminate bidirectional ventricular tachycardia in pediatric patients with Andersen-Tawil syndrome? ( 30516532 )
2018
8
Variable penetrance of Andersen-Tawil syndrome in a family with a rare missense KCNJ2 mutation. ( 30533530 )
2018
9
Andersen-Tawil syndrome: Clinical presentation and predictors of symptomatic arrhythmias - Possible role of polymorphisms K897T in KCNH2 and H558R in SCN5A gene. ( 28336205 )
2017
10
Different responses to exercise between Andersen-Tawil syndrome and catecholaminergic polymorphic ventricular tachycardia. ( 29309601 )
2017
11
Characterization of a novel KCNJ2 sequence variant detected in Andersen-Tawil syndrome patients. ( 29017447 )
2017
12
Andersen-Tawil Syndrome with Early Onset Myopathy: 2 Cases. ( 28106564 )
2017
13
Intrafamilial phenotypic variability in Andersen-Tawil syndrome: A diagnostic challenge in a potentially treatable condition. ( 28024840 )
2017
14
Flecainide treats a novel KCNJ2 mutation associated with Andersen-Tawil syndrome. ( 28491792 )
2017
15
Flecainide ameliorates arrhythmogenicity through NCX flux in Andersen-Tawil syndrome-iPS cell-derived cardiomyocytes. ( 28956012 )
2017
16
Clinical heterogeneity in Andersen-Tawil syndrome. ( 29032928 )
2017
17
Sanger sequencing as a first-line approach for molecular diagnosis of Andersen-Tawil syndrome. ( 29093808 )
2017
18
Identification of the KCNJ2 Mutation in a Korean Family with Andersen-Tawil Syndrome and Developmental Delay. ( 26927354 )
2016
19
Coexistence of Andersen-Tawil Syndrome with Polymorphisms in hERG1 Gene (K897T) and SCN5A Gene (H558R) in One Family. ( 26109178 )
2016
20
Reversible Dilated Cardiomyopathy Caused by a High Burden of Ventricular Arrhythmias in Andersen-Tawil Syndrome. ( 27789106 )
2016
21
Andersen-Tawil syndrome. A diagnostic challenge. ( 26736094 )
2016
22
Bioelectric signalling via potassium channels: a mechanism for craniofacial dysmorphogenesis in KCNJ2-associated Andersen-Tawil Syndrome. ( 26864374 )
2016
23
Clinical features and long exercise test in Chinese patients with Andersen-Tawil syndrome. ( 27145478 )
2016
24
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
25
Vanishing Weakness and Persistent Cardiac Dysrhythmia: Are We Dealing with Andersen Tawil Syndrome? ( 25616308 )
2015
26
Efficacy and safety of flecainide for ventricular arrhythmias in patients with Andersen-Tawil syndrome with KCNJ2 mutations. ( 25496985 )
2015
27
Abnormal electroencephalogram, epileptic seizures, structural congenital heart disease and aborted sudden cardiac death in Andersen-Tawil syndrome. ( 25463366 )
2015
28
Child Neurology: Andersen-Tawil syndrome. ( 25780024 )
2015
29
Imipramine for incessant ventricular arrhythmias in 2 unrelated patients with Andersen-Tawil syndrome. ( 25814423 )
2015
30
Case report: A Chinese child with Andersen-Tawil syndrome due to a de novo KCNJ2 mutation. ( 25847018 )
2015
31
Recurrent syncope in the Andersen Tawil syndrome - Cardiac or neurological? ( 26937109 )
2015
32
Identification and functional characterisation of a novel KCNJ2 mutation, Val302del, causing Andersen-Tawil syndrome. ( 26103554 )
2015
33
Andersen-Tawil syndrome: A review of literature. ( 26448239 )
2015
34
Atrial pacing for the management of ventricular arrhythmias in Andersen-Tawil syndrome. ( 28491582 )
2015
35
Electrocardiogram in Andersen-Tawil syndrome. New electrocardiographic criteria for diagnosis of type-1 Andersen-Tawil syndrome. ( 24827800 )
2014
36
Effect of flecainide on T-wave alternans in Andersen-Tawil syndrome. ( 25040481 )
2014
37
Mosaic KCNJ2 Mutation in Andersen-Tawil syndrome: Targeted Deep Sequencing is Useful for the Detection of Mosaicism. ( 24635491 )
2014
38
Andersen-Tawil syndrome with early fixed myopathy. ( 25415519 )
2014
39
A case of Andersen-Tawil syndrome presenting periodic paralysis exacerbated by acetazolamide. ( 25284084 )
2014
40
Andersen-Tawil syndrome: Report of 3 novel mutations and high risk of symptomatic cardiac involvement. ( 24861851 )
2014
41
Should a cardioverter-defibrillator be implanted in an Andersen-Tawil syndrome patient with severe ventricular arrhythmias and syncope? ( 25155849 )
2014
42
Lack of efficacy of radiofrequency catheter ablation in Andersen-Tawil syndrome: are we targeting the right spot? ( 24473499 )
2014
43
Severe exacerbation of Andersen-Tawil syndrome secondary to thyrotoxicosis. ( 24849934 )
2014
44
A Kir3.4 mutation causes Andersen-Tawil syndrome by an inhibitory effect on Kir2.1. ( 24574546 )
2014
45
Clinodactyly and syndactyly - diagnostic clues for Andersen-Tawil syndrome. ( 25410461 )
2014
46
Novel mutation in the KCNJ2 gene is associated with a malignant arrhythmic phenotype of Andersen-Tawil syndrome. ( 24047492 )
2013
47
Andersen-Tawil syndrome: clinical and molecular aspects. ( 24383070 )
2013
48
Ventricular tachyarrhythmias in a patient with andersen-tawil syndrome. ( 23407770 )
2013
49
Non dominant-negative KCNJ2 gene mutations leading to Andersen-Tawil syndrome with an isolated cardiac phenotype. ( 23644778 )
2013
50
Combined inhibition of Na(+) and Ca(2+) channels: A novel paradigm for the treatment of incessant ventricular arrhythmias in Andersen-Tawil syndrome. ( 24211314 )
2013

Variations for Andersen Cardiodysrhythmic Periodic Paralysis

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

76
# 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 KCNJ2 NM_000891.2(KCNJ2): c.953A> G (p.Asn318Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs367560052 GRCh37 Chromosome 17, 68172133: 68172133
2 KCNJ2 NM_000891.2(KCNJ2): c.953A> G (p.Asn318Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs367560052 GRCh38 Chromosome 17, 70175992: 70175992
3 KCNJ2 NM_000891.2(KCNJ2): c.226T> G (p.Cys76Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs786205812 GRCh37 Chromosome 17, 68171406: 68171406
4 KCNJ2 NM_000891.2(KCNJ2): c.226T> G (p.Cys76Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs786205812 GRCh38 Chromosome 17, 70175265: 70175265
5 KCNJ2 NM_000891.2(KCNJ2): c.653G> T (p.Arg218Leu) single nucleotide variant Uncertain significance rs199473384 GRCh37 Chromosome 17, 68171833: 68171833
6 KCNJ2 NM_000891.2(KCNJ2): c.653G> T (p.Arg218Leu) single nucleotide variant Uncertain significance rs199473384 GRCh38 Chromosome 17, 70175692: 70175692
7 KCNJ2 NM_000891.2(KCNJ2): c.901A> G (p.Met301Val) single nucleotide variant Conflicting interpretations of pathogenicity rs786205818 GRCh37 Chromosome 17, 68172081: 68172081
8 KCNJ2 NM_000891.2(KCNJ2): c.901A> G (p.Met301Val) single nucleotide variant Conflicting interpretations of pathogenicity rs786205818 GRCh38 Chromosome 17, 70175940: 70175940
9 KCNJ2 NM_000891.2(KCNJ2): c.935G> A (p.Arg312His) single nucleotide variant Conflicting interpretations of pathogenicity rs786205820 GRCh37 Chromosome 17, 68172115: 68172115
10 KCNJ2 NM_000891.2(KCNJ2): c.935G> A (p.Arg312His) single nucleotide variant Conflicting interpretations of pathogenicity rs786205820 GRCh38 Chromosome 17, 70175974: 70175974
11 KCNJ2 NM_000891.2(KCNJ2): c.973C> T (p.Arg325Cys) single nucleotide variant Uncertain significance rs202067116 GRCh38 Chromosome 17, 70176012: 70176012
12 KCNJ2 NM_000891.2(KCNJ2): c.973C> T (p.Arg325Cys) single nucleotide variant Uncertain significance rs202067116 GRCh37 Chromosome 17, 68172153: 68172153
13 KCNJ2 NM_000891.2(KCNJ2): c.1045G> A (p.Glu349Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs375330016 GRCh37 Chromosome 17, 68172225: 68172225
14 KCNJ2 NM_000891.2(KCNJ2): c.1045G> A (p.Glu349Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs375330016 GRCh38 Chromosome 17, 70176084: 70176084
15 KCNJ2 NM_000891.2(KCNJ2): c.1229A> G (p.Asn410Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141069645 GRCh37 Chromosome 17, 68172409: 68172409
16 KCNJ2 NM_000891.2(KCNJ2): c.1229A> G (p.Asn410Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141069645 GRCh38 Chromosome 17, 70176268: 70176268
17 KCNJ2 NM_000891.2(KCNJ2): c.271_282delGCTTTCGTCCTG (p.Ala91_Leu94del) deletion Pathogenic rs797044841 GRCh38 Chromosome 17, 70175310: 70175321
18 KCNJ2 NM_000891.2(KCNJ2): c.271_282delGCTTTCGTCCTG (p.Ala91_Leu94del) deletion Pathogenic rs797044841 GRCh37 Chromosome 17, 68171451: 68171462
19 KCNJ2 NM_000891.2(KCNJ2): c.966G> C (p.Trp322Cys) single nucleotide variant Pathogenic rs797044842 GRCh38 Chromosome 17, 70176005: 70176005
20 KCNJ2 NM_000891.2(KCNJ2): c.966G> C (p.Trp322Cys) single nucleotide variant Pathogenic rs797044842 GRCh37 Chromosome 17, 68172146: 68172146
21 KCNJ2 NM_000891.2(KCNJ2): c.1215C> T (p.Asp405=) single nucleotide variant Likely benign rs863224374 GRCh37 Chromosome 17, 68172395: 68172395
22 KCNJ2 NM_000891.2(KCNJ2): c.1215C> T (p.Asp405=) single nucleotide variant Likely benign rs863224374 GRCh38 Chromosome 17, 70176254: 70176254
23 KCNJ2 NM_000891.2(KCNJ2): c.407_409delCCAinsTTT (p.Ser136_Ile137delinsPhePhe) indel Likely pathogenic rs864622292 GRCh38 Chromosome 17, 70175446: 70175448
24 KCNJ2 NM_000891.2(KCNJ2): c.407_409delCCAinsTTT (p.Ser136_Ile137delinsPhePhe) indel Likely pathogenic rs864622292 GRCh37 Chromosome 17, 68171587: 68171589
25 KCNJ5 NM_000890.3(KCNJ5): c.1159G> C (p.Gly387Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs199830292 GRCh37 Chromosome 11, 128786525: 128786525
26 KCNJ5 NM_000890.3(KCNJ5): c.1159G> C (p.Gly387Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs199830292 GRCh38 Chromosome 11, 128916630: 128916630
27 KCNJ2 NM_000891.2(KCNJ2): c.212A> T (p.Asp71Val) single nucleotide variant Pathogenic rs104894575 GRCh37 Chromosome 17, 68171392: 68171392
28 KCNJ2 NM_000891.2(KCNJ2): c.212A> T (p.Asp71Val) single nucleotide variant Pathogenic rs104894575 GRCh38 Chromosome 17, 70175251: 70175251
29 KCNJ2 NM_000891.2(KCNJ2): c.652C> T (p.Arg218Trp) single nucleotide variant Pathogenic rs104894578 GRCh37 Chromosome 17, 68171832: 68171832
30 KCNJ2 NM_000891.2(KCNJ2): c.652C> T (p.Arg218Trp) single nucleotide variant Pathogenic rs104894578 GRCh38 Chromosome 17, 70175691: 70175691
31 KCNJ2 NM_000891.2(KCNJ2): c.899G> T (p.Gly300Val) single nucleotide variant Pathogenic rs104894579 GRCh37 Chromosome 17, 68172079: 68172079
32 KCNJ2 NM_000891.2(KCNJ2): c.899G> T (p.Gly300Val) single nucleotide variant Pathogenic rs104894579 GRCh38 Chromosome 17, 70175938: 70175938
33 KCNJ2 KCNJ2, 12-BP DEL, NT513 deletion Pathogenic
34 KCNJ2 KCNJ2, 6-BP DEL, NT1167 deletion Pathogenic
35 KCNJ2 NM_000891.2(KCNJ2): c.199C> T (p.Arg67Trp) single nucleotide variant Pathogenic rs104894580 GRCh37 Chromosome 17, 68171379: 68171379
36 KCNJ2 NM_000891.2(KCNJ2): c.199C> T (p.Arg67Trp) single nucleotide variant Pathogenic rs104894580 GRCh38 Chromosome 17, 70175238: 70175238
37 KCNJ2 NM_000891.2(KCNJ2): c.557C> T (p.Pro186Leu) single nucleotide variant Pathogenic rs104894581 GRCh37 Chromosome 17, 68171737: 68171737
38 KCNJ2 NM_000891.2(KCNJ2): c.557C> T (p.Pro186Leu) single nucleotide variant Pathogenic rs104894581 GRCh38 Chromosome 17, 70175596: 70175596
39 KCNJ2 NM_000891.2(KCNJ2): c.904G> A (p.Val302Met) single nucleotide variant Pathogenic rs104894582 GRCh37 Chromosome 17, 68172084: 68172084
40 KCNJ2 NM_000891.2(KCNJ2): c.904G> A (p.Val302Met) single nucleotide variant Pathogenic rs104894582 GRCh38 Chromosome 17, 70175943: 70175943
41 KCNJ2 NM_000891.2(KCNJ2): c.646A> C (p.Asn216His) single nucleotide variant Pathogenic rs104894583 GRCh37 Chromosome 17, 68171826: 68171826
42 KCNJ2 NM_000891.2(KCNJ2): c.646A> C (p.Asn216His) single nucleotide variant Pathogenic rs104894583 GRCh38 Chromosome 17, 70175685: 70175685
43 KCNJ2 NM_000891.2(KCNJ2): c.224C> G (p.Thr75Arg) single nucleotide variant Pathogenic rs104894585 GRCh37 Chromosome 17, 68171404: 68171404
44 KCNJ2 NM_000891.2(KCNJ2): c.224C> G (p.Thr75Arg) single nucleotide variant Pathogenic rs104894585 GRCh38 Chromosome 17, 70175263: 70175263
45 KCNJ2 NM_000891.2(KCNJ2): c.161G> T (p.Cys54Phe) single nucleotide variant Pathogenic rs199473650 GRCh37 Chromosome 17, 68171341: 68171341
46 KCNJ2 NM_000891.2(KCNJ2): c.161G> T (p.Cys54Phe) single nucleotide variant Pathogenic rs199473650 GRCh38 Chromosome 17, 70175200: 70175200
47 KCNJ2 NM_000891.2(KCNJ2): c.913A> C (p.Thr305Pro) single nucleotide variant Pathogenic rs199473387 GRCh37 Chromosome 17, 68172093: 68172093
48 KCNJ2 NM_000891.2(KCNJ2): c.913A> C (p.Thr305Pro) single nucleotide variant Pathogenic rs199473387 GRCh38 Chromosome 17, 70175952: 70175952
49 KCNJ2 NM_000891.2(KCNJ2): c.277G> A (p.Val93Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs147750704 GRCh37 Chromosome 17, 68171457: 68171457
50 KCNJ2 NM_000891.2(KCNJ2): c.277G> A (p.Val93Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs147750704 GRCh38 Chromosome 17, 70175316: 70175316

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:

38
# 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
12.73 CACNA1S KCNJ5 SCN4A SCN5A
2
Show member pathways
12.7 CACNA1S KCNJ2 KCNJ5 KCNQ1
3
Show member pathways
12.7 CACNA1S KCNE1 KCNJ5 KCNQ1 SCN5A
4
Show member pathways
12.65 KCNH2 KCNJ2 KCNJ5 KCNQ1
5
Show member pathways
12.53 CACNA1S KCNE1 KCNH2 KCNJ2 KCNQ1 SCN4A
6 11.99 CACNA1S KCNE1 KCNH2 KCNJ2 KCNJ5 KCNQ1
7
Show member pathways
11.88 KCNH2 KCNJ2 KCNJ5 KCNQ1
8 11.87 KCNH2 KCNQ1 SCN5A
9
Show member pathways
11.73 ANK2 SCN4A SCN5A
10 11.3 CACNA1S KCNQ1
11
Show member pathways
11.23 CACNA1S KCNE1 KCNQ1 SCN4A SCN5A
12 11.02 ANK2 SCN4A SCN5A
13 10.92 ANK2 KCNE1 KCNH2 KCNJ2 KCNJ5 KCNQ1
14 10.78 KCNE1 KCNJ2 KCNQ1

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 ANK2 CACNA1S KCNE1 KCNH2 KCNJ2 KCNJ5
2 membrane raft GO:0045121 9.61 ANK2 KCNE1 KCNQ1
3 Z disc GO:0030018 9.58 ANK2 KCNE1 SCN5A
4 sarcolemma GO:0042383 9.5 ANK2 CACNA1S SCN5A
5 voltage-gated sodium channel complex GO:0001518 9.37 SCN4A SCN5A
6 voltage-gated potassium channel complex GO:0008076 9.35 KCNE1 KCNH2 KCNJ2 KCNJ5 KCNQ1
7 intercalated disc GO:0014704 9.33 ANK2 KCNJ2 SCN5A
8 T-tubule GO:0030315 9.02 ANK2 CACNA1S KCNJ2 KCNJ5 SCN5A
9 membrane GO:0016020 10.13 ANK2 CACNA1S KCNE1 KCNH2 KCNJ2 KCNJ5
10 integral component of membrane GO:0016021 10.06 CACNA1S KCNE1 KCNH2 KCNJ2 KCNJ5 KCNQ1

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

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 CACNA1S KCNQ1 SCN5A
2 ion channel activity GO:0005216 9.69 KCNH2 SCN4A SCN5A
3 potassium channel activity GO:0005267 9.65 KCNE1 KCNH2 KCNQ1
4 voltage-gated potassium channel activity GO:0005249 9.63 KCNE1 KCNH2 KCNQ1
5 ion channel binding GO:0044325 9.62 ANK2 KCNE1 KCNQ1 SCN5A
6 scaffold protein binding GO:0097110 9.61 KCNH2 KCNQ1 SCN5A
7 sodium channel activity GO:0005272 9.55 SCN4A SCN5A
8 delayed rectifier potassium channel activity GO:0005251 9.54 KCNE1 KCNH2 KCNQ1
9 voltage-gated sodium channel activity GO:0005248 9.52 SCN4A SCN5A
10 G-protein activated inward rectifier potassium channel activity GO:0015467 9.49 KCNJ2 KCNJ5
11 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.46 KCNE1 KCNH2 KCNJ5 KCNQ1
12 inward rectifier potassium channel activity GO:0005242 9.43 KCNH2 KCNJ2 KCNJ5
13 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization GO:0086089 9.4 KCNJ5 KCNQ1
14 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.26 KCNE1 KCNH2 KCNJ2 KCNQ1
15 voltage-gated ion channel activity GO:0005244 9.17 CACNA1S KCNH2 KCNJ2 KCNJ5 KCNQ1 SCN4A

Sources for Andersen Cardiodysrhythmic Periodic Paralysis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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