MCID: AND019
MIFTS: 59

Andersen Cardiodysrhythmic Periodic Paralysis

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Cardiovascular 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 hypokalemic periodic paralysis, type 1, 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 Circadian entrainment. 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 malar flattening and hypertelorism

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.

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.

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.

Wikipedia : 76 Andersen–Tawil syndrome, also called Andersen syndrome and Long QT syndrome 7, is a form of long QT... 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 91)
# Related Disease Score Top Affiliating Genes
1 familial periodic paralysis 32.8 CACNA1S KCNJ2 SCN4A
2 hypokalemic periodic paralysis, type 1 30.6 CACNA1S KCNJ2 SCN4A
3 catecholaminergic polymorphic ventricular tachycardia 30.5 KCNH2 KCNJ2 SCN5A
4 cardiac conduction defect 30.4 KCNH2 KCNQ1 SCN5A
5 syncope 29.7 KCNH2 KCNJ2 KCNQ1 SCN5A
6 short qt syndrome 29.2 KCNE2 KCNH2 KCNJ2 KCNQ1
7 cardiac arrhythmia 28.6 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
8 heart disease 28.4 AGTR2 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
9 long qt syndrome 28.2 KCNE2 KCNH2 KCNJ2 KCNJ5 KCNQ1 SCN5A
10 menarche, age at, quantitative trait locus 1 12.0
11 menopause, natural, age at, quantitative trait locus 1 11.9
12 menopause, natural, age at, quantitative trait locus 2 11.9
13 menopause, natural, age at, quantitative trait locus 4 11.9
14 cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk 11.9
15 ear antitragus, tag at base of 11.8
16 teeth present at birth 11.8
17 menarche, age at, quantitative trait locus 2 11.8
18 menarche, age at, quantitative trait locus 3 11.8
19 pulmonary fungal infections in patients deemed at risk 11.8
20 poliomyelitis in patients with immunodeficiencies deemed at risk 11.8
21 arterial tortuosity syndrome 11.7
22 ataxia-telangiectasia 11.7
23 antithrombin iii deficiency 11.6
24 ceroid lipofuscinosis, neuronal, 1 11.6
25 nijmegen breakage syndrome 11.4
26 atypical teratoid rhabdoid tumor 11.4
27 alport syndrome, x-linked 11.3
28 hereditary antithrombin deficiency 11.2
29 leiomyomatosis, diffuse, with alport syndrome 11.1
30 neural tube defects 11.1
31 ceroid lipofuscinosis, neuronal, 2 11.0
32 parkinson disease 10 11.0
33 neuroblastoma 11.0
34 ceroid lipofuscinosis, neuronal, 5 10.9
35 amme complex 10.9
36 ceroid lipofuscinosis, neuronal, 6 10.9
37 intermediate coronary syndrome 10.9
38 breast cancer 10.9
39 cervical cancer 10.8
40 herpes zoster 10.8
41 narcolepsy 10.8
42 depression 10.8
43 diabetes mellitus, transient neonatal, 1 10.8
44 lupus erythematosus 10.8
45 follicular lymphoma 10.8
46 carpal tunnel syndrome 10.8
47 spondyloepiphyseal dysplasia with congenital joint dislocations 10.8
48 restless legs syndrome 10.8
49 genu valgum, st. helena familial 10.8
50 pseudoarthrogryposis 10.8

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:
joint laxity
delayed bone age

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 Hands:
brachydactyly
syndactyly
fifth finger clinodactyly
short metacarpals
short phalanges
more
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 broad forehead 32 HP:0000337
16 clinodactyly of the 5th finger 32 HP:0004209
17 small hand 32 HP:0200055
18 hypoplasia of the maxilla 32 HP:0000327
19 brachydactyly 32 HP:0001156
20 joint laxity 32 HP:0001388
21 bulbous nose 32 HP:0000414
22 thin upper lip vermilion 32 HP:0000219
23 blepharophimosis 32 HP:0000581
24 triangular face 32 HP:0000325
25 facial asymmetry 32 HP:0000324
26 toe syndactyly 32 HP:0001770
27 periodic hypokalemic paresis 32 HP:0008153
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 short mandibular rami 32 HP:0003778
39 palpitations 32 HP:0001962
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 9.85 SCN5A AGTR2 CACNA1S KCNH2 KCNJ12 KCNJ2
2 digestive/alimentary MP:0005381 9.5 AGTR2 CACNA1S KCNE2 KCNJ2 KCNQ1 NFATC4
3 muscle MP:0005369 9.28 AGTR2 CACNA1S KCNH2 KCNJ2 KCNQ1 NFATC4

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 Carbonic Anhydrase Inhibitors Phase 1
4 diuretics 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, Testes

Publications for Andersen Cardiodysrhythmic Periodic Paralysis

Articles related to Andersen Cardiodysrhythmic Periodic Paralysis:

(show top 50) (show all 81)
# Title Authors Year
1
Andersen-Tawil syndrome: Clinical presentation and predictors of symptomatic arrhythmias - Possible role of polymorphisms K897T in KCNH2 and H558R in SCN5A gene. ( 28336205 )
2017
2
Different responses to exercise between Andersen-Tawil syndrome and catecholaminergic polymorphic ventricular tachycardia. ( 29309601 )
2017
3
Characterization of a novel KCNJ2 sequence variant detected in Andersen-Tawil syndrome patients. ( 29017447 )
2017
4
Identification of the KCNJ2 Mutation in a Korean Family with Andersen-Tawil Syndrome and Developmental Delay. ( 26927354 )
2016
5
Coexistence of Andersen-Tawil Syndrome with Polymorphisms in hERG1 Gene (K897T) and SCN5A Gene (H558R) in One Family. ( 26109178 )
2016
6
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
7
Vanishing Weakness and Persistent Cardiac Dysrhythmia: Are We Dealing with Andersen Tawil Syndrome? ( 25616308 )
2015
8
Efficacy and safety of flecainide for ventricular arrhythmias in patients with Andersen-Tawil syndrome with KCNJ2 mutations. ( 25496985 )
2015
9
Abnormal electroencephalogram, epileptic seizures, structural congenital heart disease and aborted sudden cardiac death in Andersen-Tawil syndrome. ( 25463366 )
2015
10
Child Neurology: Andersen-Tawil syndrome. ( 25780024 )
2015
11
Imipramine for incessant ventricular arrhythmias in 2 unrelated patients with Andersen-Tawil syndrome. ( 25814423 )
2015
12
Case report: A Chinese child with Andersen-Tawil syndrome due to a de novo KCNJ2 mutation. ( 25847018 )
2015
13
Electrocardiogram in Andersen-Tawil syndrome. New electrocardiographic criteria for diagnosis of type-1 Andersen-Tawil syndrome. ( 24827800 )
2014
14
Effect of flecainide on T-wave alternans in Andersen-Tawil syndrome. ( 25040481 )
2014
15
Mosaic KCNJ2 Mutation in Andersen-Tawil syndrome: Targeted Deep Sequencing is Useful for the Detection of Mosaicism. ( 24635491 )
2014
16
Andersen-Tawil syndrome with early fixed myopathy. ( 25415519 )
2014
17
A case of Andersen-Tawil syndrome presenting periodic paralysis exacerbated by acetazolamide. ( 25284084 )
2014
18
Andersen-Tawil syndrome: Report of 3 novel mutations and high risk of symptomatic cardiac involvement. ( 24861851 )
2014
19
Should a cardioverter-defibrillator be implanted in an Andersen-Tawil syndrome patient with severe ventricular arrhythmias and syncope? ( 25155849 )
2014
20
Lack of efficacy of radiofrequency catheter ablation in Andersen-Tawil syndrome: are we targeting the right spot? ( 24473499 )
2014
21
Severe exacerbation of Andersen-Tawil syndrome secondary to thyrotoxicosis. ( 24849934 )
2014
22
A Kir3.4 mutation causes Andersen-Tawil syndrome by an inhibitory effect on Kir2.1. ( 24574546 )
2014
23
Clinodactyly and syndactyly - diagnostic clues for Andersen-Tawil syndrome. ( 25410461 )
2014
24
Novel mutation in the KCNJ2 gene is associated with a malignant arrhythmic phenotype of Andersen-Tawil syndrome. ( 24047492 )
2013
25
Andersen-Tawil syndrome: clinical and molecular aspects. ( 24383070 )
2013
26
Ventricular tachyarrhythmias in a patient with andersen-tawil syndrome. ( 23407770 )
2013
27
Non dominant-negative KCNJ2 gene mutations leading to Andersen-Tawil syndrome with an isolated cardiac phenotype. ( 23644778 )
2013
28
Combined inhibition of Na(+) and Ca(2+) channels: A novel paradigm for the treatment of incessant ventricular arrhythmias in Andersen-Tawil syndrome. ( 24211314 )
2013
29
Cardiac characteristics and long-term outcome in Andersen-Tawil syndrome patients related to KCNJ2 mutation. ( 23867365 )
2013
30
Andersen-Tawil syndrome presenting as a fixed myopathy. ( 23568766 )
2013
31
Andersen-Tawil syndrome, scarier for the doctor than for the patient? Who, when, and how to treat. ( 24128811 )
2013
32
Inhibition of Na+ channels ameliorates arrhythmias in a drug-induced model of Andersen-Tawil syndrome. ( 23041575 )
2013
33
Alternans of diastolic intracellular calcium elevation as the mechanism of bidirectional ventricular tachycardia in a rabbit model of Andersen-Tawil syndrome. ( 21167318 )
2012
34
Hypokalemic periodic paralysis, facial dysmorphism and ventricular arrhythmia (clinical triad of Andersen-Tawil syndrome). ( 23767205 )
2012
35
Altered stress stimulation of inward rectifier potassium channels in Andersen-Tawil syndrome. ( 22002906 )
2012
36
Membrane dysfunction in Andersen-Tawil syndrome assessed by velocity recovery cycles. ( 22806368 )
2012
37
Andersen-Tawil syndrome associated with aborted sudden cardiac death: atrial pacing was effective for ventricular arrhythmias. ( 22739561 )
2012
38
Biophysical and molecular characterization of a novel de novo KCNJ2 mutation associated with Andersen-Tawil syndrome and catecholaminergic polymorphic ventricular tachycardia mimicry. ( 21148745 )
2011
39
A novel KCNJ2 nonsense mutation, S369X, impedes trafficking and causes a limited form of Andersen-Tawil syndrome. ( 21493816 )
2011
40
Unique post-exercise electrophysiological test results in a new Andersen-Tawil syndrome mutation. ( 21640645 )
2011
41
NCX is an important determinant for premature ventricular activity in a drug-induced model of Andersen-Tawil syndrome. ( 21697145 )
2011
42
Lack of any cardiac involvement in a patient with Andersen-Tawil syndrome associated with the c.574Aa89G mutation in KCNJ2. ( 22286118 )
2011
43
Andersen-Tawil syndrome. ( 19223265 )
2011
44
Andersen Tawil syndrome - periodic paralysis with dysmorphism. ( 21317470 )
2011
45
Characterization of a novel, dominant negative KCNJ2 mutation associated with Andersen-Tawil syndrome. ( 22186697 )
2011
46
Cytosolic calcium accumulation and delayed repolarization associated with ventricular arrhythmias in a guinea pig model of Andersen-Tawil syndrome. ( 20380896 )
2010
47
Muscle weakness, palpitations and a small chin: the Andersen-Tawil syndrome. ( 20647529 )
2010
48
Kir 2.1 channelopathies: the Andersen-Tawil syndrome. ( 20306271 )
2010
49
A novel neuropsychiatric phenotype of KCNJ2 mutation in one Taiwanese family with Andersen-Tawil syndrome. ( 20111058 )
2010
50
Cardiac surgery for a patient with Andersen-Tawil syndrome. ( 20609799 )
2010

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 274)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNJ2 NM_000891.2(KCNJ2): c.212A> T (p.Asp71Val) single nucleotide variant Pathogenic rs104894575 GRCh37 Chromosome 17, 68171392: 68171392
2 KCNJ2 NM_000891.2(KCNJ2): c.212A> T (p.Asp71Val) single nucleotide variant Pathogenic rs104894575 GRCh38 Chromosome 17, 70175251: 70175251
3 KCNJ2 NM_000891.2(KCNJ2): c.652C> T (p.Arg218Trp) single nucleotide variant Pathogenic rs104894578 GRCh37 Chromosome 17, 68171832: 68171832
4 KCNJ2 NM_000891.2(KCNJ2): c.652C> T (p.Arg218Trp) single nucleotide variant Pathogenic rs104894578 GRCh38 Chromosome 17, 70175691: 70175691
5 KCNJ2 NM_000891.2(KCNJ2): c.899G> T (p.Gly300Val) single nucleotide variant Pathogenic rs104894579 GRCh37 Chromosome 17, 68172079: 68172079
6 KCNJ2 NM_000891.2(KCNJ2): c.899G> T (p.Gly300Val) single nucleotide variant Pathogenic rs104894579 GRCh38 Chromosome 17, 70175938: 70175938
7 KCNJ2 KCNJ2, 12-BP DEL, NT513 deletion Pathogenic
8 KCNJ2 KCNJ2, 6-BP DEL, NT1167 deletion Pathogenic
9 KCNJ2 NM_000891.2(KCNJ2): c.199C> T (p.Arg67Trp) single nucleotide variant Pathogenic rs104894580 GRCh37 Chromosome 17, 68171379: 68171379
10 KCNJ2 NM_000891.2(KCNJ2): c.199C> T (p.Arg67Trp) single nucleotide variant Pathogenic rs104894580 GRCh38 Chromosome 17, 70175238: 70175238
11 KCNJ2 NM_000891.2(KCNJ2): c.557C> T (p.Pro186Leu) single nucleotide variant Pathogenic rs104894581 GRCh37 Chromosome 17, 68171737: 68171737
12 KCNJ2 NM_000891.2(KCNJ2): c.557C> T (p.Pro186Leu) single nucleotide variant Pathogenic rs104894581 GRCh38 Chromosome 17, 70175596: 70175596
13 KCNJ2 NM_000891.2(KCNJ2): c.904G> A (p.Val302Met) single nucleotide variant Pathogenic rs104894582 GRCh37 Chromosome 17, 68172084: 68172084
14 KCNJ2 NM_000891.2(KCNJ2): c.904G> A (p.Val302Met) single nucleotide variant Pathogenic rs104894582 GRCh38 Chromosome 17, 70175943: 70175943
15 KCNJ2 NM_000891.2(KCNJ2): c.646A> C (p.Asn216His) single nucleotide variant Pathogenic rs104894583 GRCh37 Chromosome 17, 68171826: 68171826
16 KCNJ2 NM_000891.2(KCNJ2): c.646A> C (p.Asn216His) single nucleotide variant Pathogenic rs104894583 GRCh38 Chromosome 17, 70175685: 70175685
17 KCNJ2 NM_000891.2(KCNJ2): c.224C> G (p.Thr75Arg) single nucleotide variant Pathogenic rs104894585 GRCh37 Chromosome 17, 68171404: 68171404
18 KCNJ2 NM_000891.2(KCNJ2): c.224C> G (p.Thr75Arg) single nucleotide variant Pathogenic rs104894585 GRCh38 Chromosome 17, 70175263: 70175263
19 KCNJ2 NM_000891.2(KCNJ2): c.161G> T (p.Cys54Phe) single nucleotide variant Pathogenic rs199473650 GRCh37 Chromosome 17, 68171341: 68171341
20 KCNJ2 NM_000891.2(KCNJ2): c.161G> T (p.Cys54Phe) single nucleotide variant Pathogenic rs199473650 GRCh38 Chromosome 17, 70175200: 70175200
21 KCNJ2 NM_000891.2(KCNJ2): c.913A> C (p.Thr305Pro) single nucleotide variant Pathogenic rs199473387 GRCh37 Chromosome 17, 68172093: 68172093
22 KCNJ2 NM_000891.2(KCNJ2): c.913A> C (p.Thr305Pro) single nucleotide variant Pathogenic rs199473387 GRCh38 Chromosome 17, 70175952: 70175952
23 KCNJ5 NM_000890.4(KCNJ5): c.472A> G (p.Thr158Ala) single nucleotide variant Pathogenic rs387906778 GRCh37 Chromosome 11, 128781640: 128781640
24 KCNJ5 NM_000890.4(KCNJ5): c.472A> G (p.Thr158Ala) single nucleotide variant Pathogenic rs387906778 GRCh38 Chromosome 11, 128911745: 128911745
25 KCNJ2 NM_000891.2(KCNJ2): c.224C> T (p.Thr75Met) single nucleotide variant Pathogenic rs104894585 GRCh37 Chromosome 17, 68171404: 68171404
26 KCNJ2 NM_000891.2(KCNJ2): c.224C> T (p.Thr75Met) single nucleotide variant Pathogenic rs104894585 GRCh38 Chromosome 17, 70175263: 70175263
27 KCNJ2 NM_000891.2(KCNJ2): c.233A> G (p.Asp78Gly) single nucleotide variant Pathogenic rs199473371 GRCh37 Chromosome 17, 68171413: 68171413
28 KCNJ2 NM_000891.2(KCNJ2): c.233A> G (p.Asp78Gly) single nucleotide variant Pathogenic rs199473371 GRCh38 Chromosome 17, 70175272: 70175272
29 KCNJ2 NM_000891.2(KCNJ2): c.244C> T (p.Arg82Trp) single nucleotide variant Pathogenic rs199473373 GRCh37 Chromosome 17, 68171424: 68171424
30 KCNJ2 NM_000891.2(KCNJ2): c.244C> T (p.Arg82Trp) single nucleotide variant Pathogenic rs199473373 GRCh38 Chromosome 17, 70175283: 70175283
31 KCNJ2 NM_000891.2(KCNJ2): c.245G> A (p.Arg82Gln) single nucleotide variant Pathogenic/Likely pathogenic rs199473653 GRCh37 Chromosome 17, 68171425: 68171425
32 KCNJ2 NM_000891.2(KCNJ2): c.245G> A (p.Arg82Gln) single nucleotide variant Pathogenic/Likely pathogenic rs199473653 GRCh38 Chromosome 17, 70175284: 70175284
33 KCNJ2 NM_000891.2(KCNJ2): c.431G> A (p.Gly144Asp) single nucleotide variant Pathogenic rs199473377 GRCh37 Chromosome 17, 68171611: 68171611
34 KCNJ2 NM_000891.2(KCNJ2): c.431G> A (p.Gly144Asp) single nucleotide variant Pathogenic rs199473377 GRCh38 Chromosome 17, 70175470: 70175470
35 KCNJ2 NM_000891.2(KCNJ2): c.644G> A (p.Gly215Asp) single nucleotide variant Pathogenic rs199473383 GRCh37 Chromosome 17, 68171824: 68171824
36 KCNJ2 NM_000891.2(KCNJ2): c.644G> A (p.Gly215Asp) single nucleotide variant Pathogenic rs199473383 GRCh38 Chromosome 17, 70175683: 70175683
37 KCNJ2 NM_000891.2(KCNJ2): c.653G> A (p.Arg218Gln) single nucleotide variant Pathogenic rs199473384 GRCh37 Chromosome 17, 68171833: 68171833
38 KCNJ2 NM_000891.2(KCNJ2): c.653G> A (p.Arg218Gln) single nucleotide variant Pathogenic rs199473384 GRCh38 Chromosome 17, 70175692: 70175692
39 KCNJ2 NM_000891.2(KCNJ2): c.899G> A (p.Gly300Asp) single nucleotide variant Pathogenic rs104894579 GRCh37 Chromosome 17, 68172079: 68172079
40 KCNJ2 NM_000891.2(KCNJ2): c.899G> A (p.Gly300Asp) single nucleotide variant Pathogenic rs104894579 GRCh38 Chromosome 17, 70175938: 70175938
41 KCNJ2 NM_000891.2(KCNJ2): c.953A> G (p.Asn318Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs367560052 GRCh37 Chromosome 17, 68172133: 68172133
42 KCNJ2 NM_000891.2(KCNJ2): c.953A> G (p.Asn318Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs367560052 GRCh38 Chromosome 17, 70175992: 70175992
43 KCNJ2 NM_000891.2(KCNJ2): c.226T> G (p.Cys76Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs786205812 GRCh37 Chromosome 17, 68171406: 68171406
44 KCNJ2 NM_000891.2(KCNJ2): c.226T> G (p.Cys76Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs786205812 GRCh38 Chromosome 17, 70175265: 70175265
45 KCNJ2 NM_000891.2(KCNJ2): c.653G> T (p.Arg218Leu) single nucleotide variant Uncertain significance rs199473384 GRCh37 Chromosome 17, 68171833: 68171833
46 KCNJ2 NM_000891.2(KCNJ2): c.653G> T (p.Arg218Leu) single nucleotide variant Uncertain significance rs199473384 GRCh38 Chromosome 17, 70175692: 70175692
47 KCNJ2 NM_000891.2(KCNJ2): c.935G> A (p.Arg312His) single nucleotide variant Conflicting interpretations of pathogenicity rs786205820 GRCh37 Chromosome 17, 68172115: 68172115
48 KCNJ2 NM_000891.2(KCNJ2): c.935G> A (p.Arg312His) single nucleotide variant Conflicting interpretations of pathogenicity rs786205820 GRCh38 Chromosome 17, 70175974: 70175974
49 KCNJ2 NM_000891.2(KCNJ2): c.973C> T (p.Arg325Cys) single nucleotide variant Uncertain significance rs202067116 GRCh38 Chromosome 17, 70176012: 70176012
50 KCNJ2 NM_000891.2(KCNJ2): c.973C> T (p.Arg325Cys) single nucleotide variant Uncertain significance rs202067116 GRCh37 Chromosome 17, 68172153: 68172153

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 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.78 CACNA1S KCNJ12 KCNJ2 KCNJ5 KCNQ1
2
Show member pathways
12.75 AGTR2 CACNA1S KCNJ5 KCNQ1 SCN5A
3
Show member pathways
12.73 KCNH2 KCNJ12 KCNJ2 KCNJ5 KCNQ1
4
Show member pathways
12.49 CACNA1S KCNE2 KCNH2 KCNJ12 KCNJ2 KCNQ1
5
Show member pathways
12.41 CACNA1S KCNJ12 KCNJ2 KCNJ5 NFATC4
6
Show member pathways
11.89 KCNH2 KCNJ12 KCNJ2 KCNJ5 KCNQ1
7 11.86 CACNA1S KCNE2 KCNH2 KCNJ12 KCNJ2 KCNJ5
8
Show member pathways
11.77 KCNJ12 KCNJ2 KCNJ5
9
Show member pathways
11.64 KCNJ12 KCNJ2 KCNJ5
10
Show member pathways
11.53 CACNA1S KCNE2 KCNQ1 SCN4A SCN5A
11 10.85 KCNE2 KCNH2 KCNJ2 KCNJ5 KCNQ1 SCN5A
12 10.71 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 integral component of plasma membrane GO:0005887 9.95 AGTR2 C5AR2 KCNH2 KCNJ12 KCNJ2 PVR
2 intrinsic component of membrane GO:0031224 9.43 KCNJ12 KCNJ2
3 voltage-gated sodium channel complex GO:0001518 9.37 SCN4A SCN5A
4 T-tubule GO:0030315 9.26 CACNA1S KCNJ2 KCNJ5 SCN5A
5 voltage-gated potassium channel complex GO:0008076 9.02 KCNE2 KCNH2 KCNJ2 KCNJ5 KCNQ1
6 membrane GO:0016020 10.13 AGTR2 C5AR2 CACNA1S IKBIP KCNE2 KCNH2
7 plasma membrane GO:0005886 10.1 AGTR2 C5AR2 CACNA1S KCNE2 KCNH2 KCNJ12
8 integral component of membrane GO:0016021 10.03 AGTR2 C5AR2 CACNA1S IKBIP KCNE2 KCNH2

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.96 CACNA1S KCNE2 KCNH2 KCNJ12 KCNJ2 KCNJ5
2 potassium ion transport GO:0006813 9.93 KCNE2 KCNH2 KCNJ12 KCNJ2 KCNJ5 KCNQ1
3 potassium ion transmembrane transport GO:0071805 9.88 KCNE2 KCNH2 KCNJ2 KCNQ1
4 muscle contraction GO:0006936 9.81 CACNA1S KCNJ12 SCN4A
5 potassium ion import GO:0010107 9.81 KCNE2 KCNJ12 KCNJ2 KCNJ5
6 membrane depolarization during action potential GO:0086010 9.8 CACNA1S KCNH2 SCN4A SCN5A
7 cellular response to drug GO:0035690 9.79 KCNE2 KCNH2 KCNQ1
8 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.78 KCNE2 KCNH2 KCNQ1 SCN5A
9 cardiac muscle contraction GO:0060048 9.77 KCNH2 KCNQ1 SCN5A
10 cardiac muscle cell action potential involved in contraction GO:0086002 9.74 KCNE2 KCNJ2 SCN5A
11 positive regulation of potassium ion transmembrane transport GO:1901381 9.73 KCNH2 KCNJ2 KCNQ1
12 ventricular cardiac muscle cell action potential GO:0086005 9.73 KCNE2 KCNH2 KCNQ1 SCN5A
13 membrane repolarization GO:0086009 9.72 KCNE2 KCNH2 KCNQ1
14 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.71 KCNH2 KCNJ2 KCNQ1
15 regulation of membrane repolarization GO:0060306 9.71 KCNE2 KCNH2 KCNJ2 KCNQ1
16 potassium ion export GO:0071435 9.7 KCNE2 KCNH2 KCNQ1
17 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.67 KCNE2 KCNH2 KCNJ5 KCNQ1
18 regulation of potassium ion transmembrane transport GO:1901379 9.64 KCNE2 KCNH2
19 regulation of cardiac muscle cell contraction GO:0086004 9.63 KCNJ2 SCN5A
20 regulation of heart rate by cardiac conduction GO:0086091 9.63 KCNE2 KCNH2 KCNJ2 KCNJ5 KCNQ1 SCN5A
21 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.62 KCNJ2 SCN5A
22 atrial cardiac muscle cell action potential GO:0086014 9.62 KCNQ1 SCN5A
23 membrane repolarization during action potential GO:0086011 9.62 KCNE2 KCNH2 KCNJ2 KCNQ1
24 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.61 KCNQ1 SCN5A
25 membrane repolarization during atrial cardiac muscle cell action potential GO:0098914 9.6 KCNJ5 KCNQ1
26 potassium ion export across plasma membrane GO:0097623 9.58 KCNH2 KCNQ1
27 cardiac conduction GO:0061337 9.5 CACNA1S KCNE2 KCNH2 KCNJ12 KCNJ2 KCNQ1
28 regulation of ion transmembrane transport GO:0034765 9.28 CACNA1S KCNE2 KCNH2 KCNJ12 KCNJ2 KCNJ5
29 transmembrane transport GO:0055085 10.04 CACNA1S KCNH2 KCNQ1 SCN4A SCN5A

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.71 KCNH2 SCN4A SCN5A
2 ion channel binding GO:0044325 9.69 KCNE2 KCNQ1 SCN5A
3 potassium channel activity GO:0005267 9.67 KCNE2 KCNH2 KCNQ1
4 voltage-gated potassium channel activity GO:0005249 9.65 KCNE2 KCNH2 KCNQ1
5 scaffold protein binding GO:0097110 9.63 KCNH2 KCNQ1 SCN5A
6 cation channel activity GO:0005261 9.61 CACNA1S SCN4A SCN5A
7 delayed rectifier potassium channel activity GO:0005251 9.54 KCNE2 KCNH2 KCNQ1
8 voltage-gated sodium channel activity GO:0005248 9.52 SCN4A SCN5A
9 G-protein activated inward rectifier potassium channel activity GO:0015467 9.5 KCNJ12 KCNJ2 KCNJ5
10 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.46 KCNE2 KCNH2 KCNJ5 KCNQ1
11 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.43 KCNH2 KCNJ2 KCNQ1
12 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization GO:0086089 9.4 KCNJ5 KCNQ1
13 inward rectifier potassium channel activity GO:0005242 9.35 KCNE2 KCNH2 KCNJ12 KCNJ2 KCNJ5
14 voltage-gated ion channel activity GO:0005244 9.28 CACNA1S KCNE2 KCNH2 KCNJ12 KCNJ2 KCNJ5

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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