MCID: AND016
MIFTS: 59

Andersen Syndrome

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

Aliases & Classifications for Andersen Syndrome

MalaCards integrated aliases for Andersen Syndrome:

Name: Andersen Syndrome 54 12 24 25 56 71 13 52 42 69
Andersen-Tawil Syndrome 12 23 50 24 25 56 71 14
Lqt7 12 50 24 25 56 71
Andersen Cardiodysrhythmic Periodic Paralysis 12 50 25 56 71
Long Qt Syndrome 7 12 50 24 25 71
Periodic Paralysis, Potassium-Sensitive Cardiodysrhythmic Type 50 25 71
Ats 12 25 71
Potassium-Sensitive Periodic Paralysis, Ventricular Ectopy, and Dysmorphic Features 50
Cardiodysrhythmic Potassium-Sensitive Periodic Paralysis 56
Potassium-Sensitive Cardiodysrhythmic Type 12
Long Qt Syndrome Type 7 56
Andersen Tawil Syndrome 29
Lqt 7 24

Characteristics:

Orphanet epidemiological data:

56
cardiodysrhythmic potassium-sensitive periodic paralysis
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

54
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 syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

23
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: 56  
Rare neurological diseases


Summaries for Andersen Syndrome

NIH Rare Diseases : 50 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. last updated: 8/18/2015

MalaCards based summary : Andersen Syndrome, also known as andersen-tawil syndrome, is related to cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk and andersen syndrome type 1, and has symptoms including scoliosis, brachydactyly and bulbous nose. An important gene associated with Andersen Syndrome is KCNJ2 (Potassium Voltage-Gated Channel Subfamily J Member 2), and among its related pathways/superpathways are Transmission across Chemical Synapses and G-Beta Gamma Signaling. The drugs Methyltestosterone and Testosterone have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and bone, and related phenotype is muscle.

UniProtKB/Swiss-Prot : 71 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 Anderson-Tawil syndrome is a disorder that causes episodes of muscle weakness (periodic paralysis), changes in heart rhythm (arrhythmia), and developmental abnormalities. The most common changes affecting the heart are ventricular arrhythmia, which is a disruption in the rhythm of the heart's lower chambers, and long QT syndrome. Long QT syndrome is a heart condition that causes the heart (cardiac) muscle to take longer than usual to recharge between beats. If untreated, the irregular heartbeats can lead to discomfort, fainting (syncope), or cardiac arrest.

OMIM : 54
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)

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.

GeneReviews: NBK1264

Related Diseases for Andersen Syndrome

Diseases in the Andersen Syndrome family:

Andersen Syndrome Type 1 Andersen Syndrome Type 2

Diseases related to Andersen Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 66)
id Related Disease Score Top Affiliating Genes
1 cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk 11.8
2 andersen syndrome type 1 11.8
3 andersen syndrome type 2 11.8
4 poliomyelitis in patients with immunodeficiencies deemed at risk 11.8
5 pulmonary fungal infections in patients deemed at risk 11.8
6 arterial tortuosity syndrome 11.6
7 ataxia-telangiectasia 11.5
8 familial periodic paralysis 11.4
9 nijmegen breakage syndrome 11.3
10 atypical teratoid rhabdoid tumor 11.3
11 thrombophilia due to antithrombin iii deficiency 11.3
12 ceroid lipofuscinosis, neuronal, 1 11.2
13 hereditary antithrombin deficiency 11.1
14 alport syndrome 11.0
15 neural tube defects 10.9
16 intermediate coronary syndrome 10.8
17 leiomyomatosis, esophageal and vulval, with nephropathy 10.8
18 ceroid lipofuscinosis, neuronal, 2 10.8
19 neuroblastoma 10.8
20 breast cancer 10.7
21 postinfectious encephalomyelitis 10.7 KCNJ2 SCN4A
22 li-fraumeni syndrome 10.7
23 follicular lymphoma 10.7
24 hydrocephalus 10.7
25 lupus erythematosus 10.7
26 narcolepsy 10.7
27 ceroid lipofuscinosis, neuronal, 5 10.7
28 alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome 10.7
29 ceroid lipofuscinosis, neuronal, 6 10.7
30 genu valgum, st helena familial 10.7
31 alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis 10.7
32 paramyotonia congenita 10.7 KCNJ2 SCN4A
33 spastic paraplegia 30, autosomal recessive 10.5 KCNJ12 KCNJ3 KCNJ5
34 monocular esotropia 10.5 KCNJ2 SCN4A
35 sudden cardiac death 10.4
36 hyperaldosteronism, familial, type iii 10.4 KCNJ5 SCN5A
37 lipodystrophy, familial partial, type 5 10.3 KCNJ2 SCN5A
38 syne1-related emery-dreifuss muscular dystrophy 10.3 KCNJ2 KCNJ5 SCN5A
39 myopathy 10.2
40 cardiomyopathy 10.2
41 catecholaminergic polymorphic ventricular tachycardia 10.2
42 prostate malignant phyllodes tumor 10.2 KCNJ2 PVR SCN5A
43 mental retardation, autosomal dominant 11 10.2 KCNE2 SCN5A
44 intellectual disability-cataracts-kyphosis syndrome 10.1 KCNE2 KCNJ2 SCN5A
45 endocardium disease 10.1 KCNE2 SCN5A
46 keppen-lubinsky syndrome 10.1 KCNE2 KCNJ2 SCN5A
47 short qt syndrome 1 10.1 KCNE2 KCNJ2 SCN5A
48 cone dystrophy 10.1 KCNE2 KCNJ2 SCN5A
49 dilated cardiomyopathy 10.1
50 syncope 10.1

Graphical network of the top 20 diseases related to Andersen Syndrome:



Diseases related to Andersen Syndrome

Symptoms & Phenotypes for Andersen Syndrome

Symptoms via clinical synopsis from OMIM:

54

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

Skeletal:
delayed bone age
joint laxity

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

Head And Neck- Face:
micrognathia
maxillary hypoplasia
broad forehead
triangular face
malar hypoplasia
more
Skeletal- Feet:
small feet
short metatarsals
syndactyly (2-3)
fifth toe clinodactyly

Skeletal- Skull:
short mandibular rami
small mandible
small maxilla
antegonial notching of mandible
prominent frontal sinuses
more
Head And Neck- Teeth:
enamel hypoplasia
oligodontia
delayed eruption of secondary teeth
anterior crossbite
persistent primary teeth
more
Skeletal- Limbs:
gracile long bones

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

Laboratory- Abnormalities:
hypokalemia during periodic paralysis (most patients)

Skeletal- Spine:
scoliosis

Skeletal- Hands:
brachydactyly
short metacarpals
fifth finger clinodactyly
small hands
syndactyly
more
Head And Neck- Ears:
low-set ears
preauricular pits

Head And Neck- Eyes:
hypertelorism
short palpebral fissures

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

Chest- Ribs Sternum Clavicles And Scapulae:
scapular winging
gracile ribs

Head And Neck- Nose:
bulbous nasal tip

Growth- Height:
stature (<10th percentile)

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


Clinical features from OMIM:

170390

Human phenotypes related to Andersen Syndrome:

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

UMLS symptoms related to Andersen Syndrome:


syncope, joint laxity

MGI Mouse Phenotypes related to Andersen Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.17 AGTR2 KCNJ2 KCNJ6 NFATC4 PTS SCN4A

Drugs & Therapeutics for Andersen Syndrome

Drugs for Andersen Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 46)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methyltestosterone Approved Phase 4 58-18-4 6010
2
Testosterone Approved, Investigational Phase 4 58-22-0 6013
3
Citalopram Approved Phase 4 59729-33-8 2771
4
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
5 Racepinephrine Approved Phase 4
6
Metformin Approved Phase 4 657-24-9 14219 4091
7 Anabolic Agents Phase 4
8 Androgens Phase 4
9 Antineoplastic Agents, Hormonal Phase 4
10 Hormone Antagonists Phase 4
11 Hormones Phase 4
12 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
13 Testosterone 17 beta-cypionate Phase 4
14
Testosterone enanthate Phase 4 315-37-7 9416
15 Testosterone undecanoate Phase 4
16 Antidepressive Agents Phase 4
17 Antidepressive Agents, Second-Generation Phase 4
18 Antiparkinson Agents Phase 4
19 Autonomic Agents Phase 4
20 Cholinergic Agents Phase 4
21 Cholinergic Antagonists Phase 4
22 Epinephryl borate Phase 4
23 Muscarinic Antagonists Phase 4
24 Neurotransmitter Agents Phase 4
25 Neurotransmitter Uptake Inhibitors Phase 4
26 Parasympatholytics Phase 4
27 Peripheral Nervous System Agents Phase 4
28 Psychotropic Drugs Phase 4
29
Serotonin Phase 4 50-67-9 5202
30 Serotonin Agents Phase 4
31 Serotonin Uptake Inhibitors Phase 4
32 Contraceptive Agents Phase 4
33 Contraceptives, Oral Phase 4
34 Hypoglycemic Agents Phase 4
35
Acetazolamide Approved, Vet_approved Phase 1 59-66-5 1986
36 Anticonvulsants Phase 1
37 Carbonic Anhydrase Inhibitors Phase 1
38 diuretics Phase 1
39 Natriuretic Agents Phase 1
40
Menthol Approved 2216-51-5 16666
41
Angiotensin II Investigational 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
42 Analgesics
43 Antipruritics
44 Dermatologic Agents
45 Anesthetics
46 Angiotensinogen

Interventional clinical trials:

(show all 23)

id Name Status NCT ID Phase Drugs
1 The Effect of a Diet Based on Low Sodium and Slowly Absorbed Carbohydrates on the Incidence of Refeeding Syndrome in Patients With Head and Neck Cancer Unknown status NCT01845922 Phase 4
2 Odense Androgen Study - The Effect of Testim and Training in Hypogonadal Men Unknown status NCT00700024 Phase 4 Testim;placebo
3 Absorption of Orally Ingested Phosphate in Refeeding Syndrome Completed NCT02880072 Phase 4
4 The Effect of Cipralex on Quality of Life, Adrenal Activity Glucose Metabolism, Physical and Mental Health in PCOS Completed NCT01961180 Phase 4 Cipralex;Placebo
5 Metformin and Oral Contraceptives in PCOS Completed NCT00451568 Phase 4 Metformin;Desorelle
6 The Danish Multicenter Randomised Study on AAI Versus DDD Pacing in Sick Sinus Syndrome Terminated NCT00236158 Phase 2, Phase 3
7 Effect of Potassium and Acetazolamide on People With Andersen-Tawil Syndrome Terminated NCT00839501 Phase 1 Acetazolamide
8 Follow-up on the HIGH: Low Study - the Longterm Effects of Growth Hormone Unknown status NCT00662181
9 The Effect of Probioticson Bloating in IBS Unknown status NCT00368758 Probiotic bacteria (Trevis R)
10 The Acute Coronary Syndrome Study Unknown status NCT01027026
11 The Odense Overweight Intervention Study Unknown status NCT01574352
12 Characteristics of Andersen-Tawil Syndrome Completed NCT00521794
13 Acute Effect of Topical Menthol on Carpal Tunnel Syndrome Completed NCT01716767
14 Screening for GDM in Women With PCOS and Controls Completed NCT02183558
15 SLEEP AND OSA ON REPRODUCTIVE FUNCTION IN MEN Completed NCT01884454
16 Investigation of the Pain Relieving Properties of Lipotransplantation After Treatment for Breast Cancer Completed NCT01888419
17 Fluid Balance, Hormones and Urine Proteomics in Nephrotic Syndrome in Childhood Completed NCT00690586
18 The Effect of Protein and Resistance Training on Muscle Mass in Acutely Ill Old Medical Patients Completed NCT02077491
19 Obstetric Outcomes in Women With PCOS Completed NCT01983202
20 Incidence and Risk Factors of Refeeding Syndrome Completed NCT02073032
21 sCD163 as a Potential Biomarker in Guillain- Barré Syndrome Recruiting NCT02582853
22 Characterization of a Prospective Cohort of Women With PCOS Recruiting NCT02010814
23 Gastrointestinal Transit Time in Patients With Guillain-Barré Syndrome Suspended NCT02459808

Search NIH Clinical Center for Andersen Syndrome

Cochrane evidence based reviews: andersen syndrome

Genetic Tests for Andersen Syndrome

Genetic tests related to Andersen Syndrome:

id Genetic test Affiliating Genes
1 Andersen Tawil Syndrome 29
2 Andersen-Tawil Syndrome 24 KCNJ2

Anatomical Context for Andersen Syndrome

MalaCards organs/tissues related to Andersen Syndrome:

39
Heart, Kidney, Bone, Breast, Testes, Skeletal Muscle

Publications for Andersen Syndrome

Articles related to Andersen Syndrome:

(show all 16)
id Title Authors Year
1
Electrophysiologic characteristics of an Andersen syndrome patient with KCNJ2 mutation. ( 17399643 )
2007
2
Impaired interaction between the slide helix and the C-terminus of Kir2.1: a novel mechanism of Andersen syndrome. ( 17568571 )
2007
3
Exaggerated Mg2+ inhibition of Kir2.1 as a consequence of reduced PIP2 sensitivity in Andersen syndrome. ( 18690034 )
2007
4
Trafficking-competent and trafficking-defective KCNJ2 mutations in Andersen syndrome. ( 16541386 )
2006
5
Andersen syndrome: an association of periodic paralysis, cardiac arrhythmia and dysmorphic abnormalities. ( 17119796 )
2006
6
Short QT syndrome or Andersen syndrome: Yin and Yang of Kir2.1 channel dysfunction. ( 15831819 )
2005
7
[Andersen syndrome: a particular form of paralysis with cardiac dysrhythmia]. ( 15269659 )
2004
8
Andersen syndrome: the newest variant of the hereditary-familial long QT syndrome. ( 15084216 )
2004
9
PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome. ( 12796536 )
2003
10
KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes. ( 12148092 )
2002
11
Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). ( 12163457 )
2002
12
[Andersen syndrome, ventricular arrhythmias and channelopathy (a case report)]. ( 12536108 )
2002
13
Amiodarone and acetazolamide for the treatment of genetically confirmed severe Andersen syndrome. ( 12177393 )
2002
14
Andersen syndrome autosomal dominant in three generations. ( 10406668 )
1999
15
The exercise test in Andersen syndrome. ( 10190827 )
1999
16
Andersen's syndrome? Or Klein-Lisak-Andersen syndrome? ( 8053666 )
1994

Variations for Andersen Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Andersen Syndrome:

71
id 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 Syndrome:

6 (show all 22)
id 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.652C> T (p.Arg218Trp) single nucleotide variant Pathogenic rs104894578 GRCh37 Chromosome 17, 68171832: 68171832
3 KCNJ2 NM_000891.2(KCNJ2): c.899G> T (p.Gly300Val) single nucleotide variant Pathogenic rs104894579 GRCh37 Chromosome 17, 68172079: 68172079
4 KCNJ2 KCNJ2, 12-BP DEL, NT513 deletion Pathogenic
5 KCNJ2 KCNJ2, 6-BP DEL, NT1167 deletion Pathogenic
6 KCNJ2 NM_000891.2(KCNJ2): c.199C> T (p.Arg67Trp) single nucleotide variant Pathogenic rs104894580 GRCh37 Chromosome 17, 68171379: 68171379
7 KCNJ2 NM_000891.2(KCNJ2): c.557C> T (p.Pro186Leu) single nucleotide variant Pathogenic rs104894581 GRCh37 Chromosome 17, 68171737: 68171737
8 KCNJ2 NM_000891.2(KCNJ2): c.904G> A (p.Val302Met) single nucleotide variant Pathogenic rs104894582 GRCh37 Chromosome 17, 68172084: 68172084
9 KCNJ2 NM_000891.2(KCNJ2): c.646A> C (p.Asn216His) single nucleotide variant Pathogenic rs104894583 GRCh37 Chromosome 17, 68171826: 68171826
10 KCNJ2 NM_000891.2(KCNJ2): c.224C> G (p.Thr75Arg) single nucleotide variant Pathogenic rs104894585 GRCh37 Chromosome 17, 68171404: 68171404
11 KCNJ2 NM_000891.2(KCNJ2): c.161G> T (p.Cys54Phe) single nucleotide variant Pathogenic rs199473650 GRCh37 Chromosome 17, 68171341: 68171341
12 KCNJ2 NM_000891.2(KCNJ2): c.913A> C (p.Thr305Pro) single nucleotide variant Pathogenic rs199473387 GRCh37 Chromosome 17, 68172093: 68172093
13 KCNJ5 NM_000890.3(KCNJ5): c.472A> G (p.Thr158Ala) single nucleotide variant Pathogenic rs387906778 GRCh37 Chromosome 11, 128781640: 128781640
14 KCNJ2 NM_000891.2(KCNJ2): c.233A> G (p.Asp78Gly) single nucleotide variant Pathogenic rs199473371 GRCh37 Chromosome 17, 68171413: 68171413
15 KCNJ2 NM_000891.2(KCNJ2): c.245G> A (p.Arg82Gln) single nucleotide variant Pathogenic rs199473653 GRCh37 Chromosome 17, 68171425: 68171425
16 KCNJ2 NM_000891.2(KCNJ2): c.644G> A (p.Gly215Asp) single nucleotide variant Pathogenic rs199473383 GRCh37 Chromosome 17, 68171824: 68171824
17 KCNJ2 NM_000891.2(KCNJ2): c.653G> A (p.Arg218Gln) single nucleotide variant Pathogenic rs199473384 GRCh37 Chromosome 17, 68171833: 68171833
18 KCNJ2 NM_000891.2(KCNJ2): c.899G> A (p.Gly300Asp) single nucleotide variant Pathogenic rs104894579 GRCh37 Chromosome 17, 68172079: 68172079
19 KCNJ2 NM_000891.2(KCNJ2): c.271_282delGCTTTCGTCCTG (p.Ala91_Leu94del) deletion Pathogenic rs797044841 GRCh38 Chromosome 17, 70175310: 70175321
20 KCNJ2 NM_000891.2(KCNJ2): c.966G> C (p.Trp322Cys) single nucleotide variant Pathogenic rs797044842 GRCh38 Chromosome 17, 70176005: 70176005
21 KCNJ2 NM_000891.2(KCNJ2): c.407_409delCCAinsTTT (p.Ser136_Ile137delinsPhePhe) indel Likely pathogenic rs864622292 GRCh38 Chromosome 17, 70175446: 70175448
22 KCNJ2 NM_000891.2(KCNJ2): c.211G> C (p.Asp71His) single nucleotide variant Likely pathogenic rs199473369 GRCh38 Chromosome 17, 70175250: 70175250

Expression for Andersen Syndrome

Search GEO for disease gene expression data for Andersen Syndrome.

Pathways for Andersen Syndrome

Pathways related to Andersen Syndrome according to GeneCards Suite gene sharing:

(show all 12)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.79 KCNJ12 KCNJ2 KCNJ3 KCNJ4 KCNJ5 KCNJ6
2
Show member pathways
12.66 KCNJ3 KCNJ5 KCNJ6 SCN4A SCN5A
3
Show member pathways
12.64 KCNE2 KCNJ12 KCNJ2 KCNJ4 SCN4A SCN5A
4
Show member pathways
12.55 KCNJ12 KCNJ2 KCNJ3 KCNJ4 KCNJ5 KCNJ6
5
Show member pathways
12.37 AGTR2 KCNJ12 KCNJ2 KCNJ3 KCNJ4 KCNJ5
6 12.16 KCNE2 KCNJ12 KCNJ2 KCNJ3 KCNJ4 KCNJ5
7
Show member pathways
12.02 KCNJ12 KCNJ2 KCNJ3 KCNJ4 KCNJ5 KCNJ6
8
Show member pathways
11.93 KCNJ12 KCNJ2 KCNJ3 KCNJ4 KCNJ5 KCNJ6
9 11.74 KCNJ3 KCNJ5 KCNJ6
10
Show member pathways
11.69 KCNJ12 KCNJ2 KCNJ3 KCNJ4 KCNJ5 KCNJ6
11
Show member pathways
11.53 KCNE2 SCN4A SCN5A
12 10.85 KCNE2 KCNJ2 KCNJ3 KCNJ4 KCNJ5 SCN5A

GO Terms for Andersen Syndrome

Cellular components related to Andersen Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 intrinsic component of membrane GO:0031224 9.4 KCNJ12 KCNJ2
2 voltage-gated sodium channel complex GO:0001518 9.32 SCN4A SCN5A
3 T-tubule GO:0030315 9.26 KCNJ2 KCNJ3 KCNJ5 SCN5A
4 voltage-gated potassium channel complex GO:0008076 9.1 KCNE2 KCNJ2 KCNJ3 KCNJ4 KCNJ5 KCNJ6
5 plasma membrane GO:0005886 10.15 AGTR2 C5AR2 KCNE2 KCNJ12 KCNJ2 KCNJ3
6 membrane GO:0016020 10.13 AGTR2 C5AR2 IKBIP KCNE2 KCNJ12 KCNJ2
7 integral component of membrane GO:0016021 10.03 AGTR2 C5AR2 IKBIP KCNE2 KCNJ12 KCNJ2

Biological processes related to Andersen Syndrome according to GeneCards Suite gene sharing:

(show all 20)
id Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.96 KCNE2 KCNJ12 KCNJ2 KCNJ3 KCNJ4 KCNJ5
2 cardiac conduction GO:0061337 9.77 KCNE2 KCNJ12 KCNJ2 KCNJ4 SCN5A
3 potassium ion transmembrane transport GO:0071805 9.76 KCNE2 KCNJ2 KCNJ4
4 regulation of heart rate by cardiac conduction GO:0086091 9.72 KCNE2 KCNJ2 KCNJ3 KCNJ5 SCN5A
5 potassium ion transport GO:0006813 9.7 KCNE2 KCNJ12 KCNJ2 KCNJ3 KCNJ4 KCNJ5
6 cardiac muscle cell action potential involved in contraction GO:0086002 9.61 KCNE2 KCNJ2 SCN5A
7 regulation of ion transmembrane transport GO:0034765 9.61 KCNE2 KCNJ12 KCNJ2 KCNJ3 KCNJ4 KCNJ5
8 membrane depolarization during action potential GO:0086010 9.59 SCN4A SCN5A
9 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.58 KCNE2 SCN5A
10 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.58 KCNE2 KCNJ3 KCNJ5
11 ventricular cardiac muscle cell action potential GO:0086005 9.57 KCNE2 SCN5A
12 regulation of cardiac muscle cell contraction GO:0086004 9.56 KCNJ2 SCN5A
13 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.55 KCNJ2 SCN5A
14 regulation of membrane repolarization GO:0060306 9.54 KCNE2 KCNJ2
15 potassium ion import across plasma membrane GO:1990573 9.52 KCNJ3 KCNJ5
16 membrane repolarization during atrial cardiac muscle cell action potential GO:0098914 9.51 KCNJ3 KCNJ5
17 membrane repolarization during action potential GO:0086011 9.49 KCNE2 KCNJ2
18 ventricular cardiac muscle cell membrane repolarization GO:0099625 9.48 KCNJ3 KCNJ5
19 potassium ion import GO:0010107 9.1 KCNE2 KCNJ12 KCNJ2 KCNJ4 KCNJ5 KCNJ6
20 transport GO:0006810 10.16 KCNE2 KCNJ12 KCNJ2 KCNJ3 KCNJ4 KCNJ5

Molecular functions related to Andersen Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.81 KCNE2 KCNJ12 KCNJ2 KCNJ3 KCNJ4 KCNJ5
2 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.43 KCNE2 KCNJ3 KCNJ5
3 G-protein activated inward rectifier potassium channel activity GO:0015467 9.43 KCNJ12 KCNJ2 KCNJ3 KCNJ4 KCNJ5 KCNJ6
4 voltage-gated sodium channel activity GO:0005248 9.37 SCN4A SCN5A
5 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization GO:0086089 9.32 KCNJ3 KCNJ5
6 inward rectifier potassium channel activity GO:0005242 9.17 KCNE2 KCNJ12 KCNJ2 KCNJ3 KCNJ4 KCNJ5

Sources for Andersen Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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