Page last updated: 2024-09-27

Cardio-Auditory-Syncope Syndrome

A form of long QT syndrome that is associated with congenital deafness. It is characterized by abnormal cardioelectrophysiology involving the VOLTAGE-GATED POTASSIUM CHANNEL. It results from mutation of KCNQ1 gene (Subtype 1 or JLN1) or the KCNE1 gene (Subtype 2 or JLN2).

Synonyms(8)

Synonym
Prolonged QT Interval in EKG and Sudden Death
Deafness, Congenital, and Functional Heart Disease
Jervell-Lange Nielsen Syndrome
Cardio-Auditory-Syncope Syndrome
Jervell And Lange-Nielsen Syndrome 1
Cardioauditory Syndrome of Jervell and Lange-Nielsen
Surdo-Cardiac Syndrome
Jervell and Lange-Nielsen Syndrome

Research

Studies (13)

TimeframeStudies, This Condition (%)All Conditions %
pre-19900 (0.00)23.3326
1990's0 (0.00)12.5806
2000's3 (23.08)18.1394
2010's7 (53.85)28.8240
2020's3 (23.08)9.53
DrugIndicatedRelationship StrengthStudiesTrials
chlorine0low10
citalopram0low10
diazepam0low10
hydroxyzine0low10
mexiletine0low10
propranolol0low20
sq-117250low20
nicorandil0low10
gastrins0low20

Protein Targets (326)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
Chain A, TYROSYL-DNA PHOSPHODIESTERASE1001
acetylcholinesterase1001
phosphopantetheinyl transferase1001
hypoxia-inducible factor 1 alpha subunit1001
RAR-related orphan receptor gamma3003
SMAD family member 22002
ATAD5 protein, partial2002
Fumarate hydratase1001
USP1 protein, partial1001
NFKB1 protein, partial1001
PPM1D protein1001
SMAD family member 32002
TDP1 protein4004
Thrombopoietin1001
AR protein2002
caspase 7, apoptosis-related cysteine protease1001
aldehyde dehydrogenase 1 family, member A12002
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)1001
thyroid stimulating hormone receptor1001
estrogen receptor 2 (ER beta)2002
nuclear receptor subfamily 1, group I, member 32002
progesterone receptor2002
EWS/FLI fusion protein3003
glucocorticoid receptor [Homo sapiens]3003
retinoic acid nuclear receptor alpha variant 11001
retinoid X nuclear receptor alpha2002
estrogen-related nuclear receptor alpha3003
farnesoid X nuclear receptor1001
pregnane X nuclear receptor2002
estrogen nuclear receptor alpha3003
G2002
cytochrome P450 2D63003
polyprotein1001
peroxisome proliferator-activated receptor delta1001
peroxisome proliferator activated receptor gamma4004
caspase-31001
euchromatic histone-lysine N-methyltransferase 24004
thyroid stimulating hormone receptor1001
v-jun sarcoma virus 17 oncogene homolog (avian)2002
Histone H2A.x2002
cytochrome P450 2D6 isoform 11001
cellular tumor antigen p53 isoform a1001
cytochrome P450 2C9 precursor2002
D(1A) dopamine receptor4004
chromobox protein homolog 13003
thyroid hormone receptor beta isoform a1001
potassium voltage-gated channel subfamily H member 2 isoform d1001
thyroid hormone receptor beta isoform 23003
heat shock protein beta-11001
huntingtin isoform 21001
mitogen-activated protein kinase 11001
flap endonuclease 11001
serine/threonine-protein kinase mTOR isoform 11001
nuclear factor erythroid 2-related factor 2 isoform 11001
peptidyl-prolyl cis-trans isomerase NIMA-interacting 12002
urokinase-type plasminogen activator precursor1001
plasminogen precursor1001
urokinase plasminogen activator surface receptor precursor1001
nuclear receptor ROR-gamma isoform 11001
geminin2002
peripheral myelin protein 222002
survival motor neuron protein isoform d2002
cytochrome P450 3A4 isoform 11001
muscarinic acetylcholine receptor M11001
lethal factor (plasmid)2002
lamin isoform A-delta101001
Gamma-aminobutyric acid receptor subunit pi1326
Polyunsaturated fatty acid lipoxygenase ALOX15B1001
ATP-binding cassette sub-family C member 30606
Multidrug resistance-associated protein 40606
Voltage-dependent L-type calcium channel subunit alpha-1C0202
Solute carrier organic anion transporter family member 1A40101
Voltage-dependent L-type calcium channel subunit alpha-1F0303
5-hydroxytryptamine receptor 40606
Lysine-specific demethylase PHF20101
Bile salt export pump0707
Interferon beta2002
HLA class I histocompatibility antigen, B alpha chain 2002
Thyroid hormone receptor alpha0101
Receptor tyrosine-protein kinase erbB-20101
Cellular tumor antigen p532002
Integrin beta-31001
Tyrosine-protein kinase Fyn0101
ATP-dependent translocase ABCB10101
Aldo-keto reductase family 1 member B10404
Muscarinic acetylcholine receptor M20314
Muscarinic acetylcholine receptor M40202
ATP-dependent translocase ABCB10416
Integrin alpha-IIb1001
Beta-1 adrenergic receptor0426
Muscarinic acetylcholine receptor M50202
Alpha-2A adrenergic receptor0326
Adenosine receptor A30314
Cytochrome P450 2C80202
Thyroid hormone receptor alpha0101
Thyroid hormone receptor beta0101
Muscarinic acetylcholine receptor M10314
Beta-3 adrenergic receptor0426
D(2) dopamine receptor0415
Androgen receptor0202
Gamma-aminobutyric acid receptor subunit beta-11326
Alpha-1B adrenergic receptor0415
Lethal factor0101
Alpha-2B adrenergic receptor0214
Thyroid hormone receptor beta0101
Gamma-aminobutyric acid receptor subunit delta1326
Gamma-aminobutyric acid receptor subunit gamma-21326
Gamma-aminobutyric acid receptor subunit alpha-51326
Gamma-aminobutyric acid receptor subunit alpha-31326
Muscarinic acetylcholine receptor M30314
ATP-dependent translocase ABCB10101
Substance-K receptor0202
D(1A) dopamine receptor0314
D(4) dopamine receptor0202
Gamma-aminobutyric acid receptor subunit gamma-11326
Gamma-aminobutyric acid receptor subunit alpha-21326
Carnitine O-palmitoyltransferase 2, mitochondrial0101
Sodium-dependent noradrenaline transporter 0404
Histamine H2 receptor0202
Endothelin-1 receptor0314
5-hydroxytryptamine receptor 2A0516
5-hydroxytryptamine receptor 2C0617
Gamma-aminobutyric acid receptor subunit alpha-41326
Gamma-aminobutyric acid receptor subunit gamma-31326
Lysine-specific demethylase 5A0101
Gamma-aminobutyric acid receptor subunit alpha-61326
B2 bradykinin receptor0202
Sodium-dependent serotonin transporter0617
Melanocortin receptor 40202
C-8 sterol isomerase0101
Melanocortin receptor 50202
Mu-type opioid receptor0314
D(3) dopamine receptor0202
Sodium channel protein type 1 subunit alpha0202
Sodium channel protein type 4 subunit alpha0202
Squalene synthase0101
Delta-type opioid receptor0314
Kappa-type opioid receptor0314
5-hydroxytryptamine receptor 2B0819
C-C chemokine receptor type 20202
Melanocortin receptor 30202
Alpha-1A adrenergic receptor0415
Histamine H2 receptor2002
D(1A) dopamine receptor1001
5-hydroxytryptamine receptor 60415
Carnitine O-palmitoyltransferase 1, liver isoform0101
C-C chemokine receptor type 40202
Spike glycoprotein4015
Gamma-aminobutyric acid receptor subunit alpha-11326
Gamma-aminobutyric acid receptor subunit beta-31326
Gamma-aminobutyric acid receptor subunit beta-21326
Sodium channel protein type 7 subunit alpha0202
Voltage-dependent L-type calcium channel subunit alpha-1D 0303
Sodium-dependent dopamine transporter 0303
Potassium voltage-gated channel subfamily H member 20505
Voltage-dependent L-type calcium channel subunit alpha-1S0303
Voltage-dependent L-type calcium channel subunit alpha-1C0404
Sodium channel protein type 5 subunit alpha0303
Squalene monooxygenase0101
3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase0101
Sodium channel protein type 9 subunit alpha0303
Lysine-specific demethylase 7A0101
GABA theta subunit1326
Carnitine O-palmitoyltransferase 1, muscle isoform0101
Inositol hexakisphosphate kinase 12002
Canalicular multispecific organic anion transporter 10505
Sodium channel protein type 2 subunit alpha0202
Ataxin-24004
Sigma non-opioid intracellular receptor 10606
Gamma-aminobutyric acid receptor subunit epsilon1326
NAD-dependent protein deacetylase sirtuin-3, mitochondrial0011
Sodium channel protein type 3 subunit alpha0202
Sodium channel protein type 11 subunit alpha0202
Histone lysine demethylase PHF80101
Sodium channel protein type 8 subunit alpha0202
Sodium channel protein type 10 subunit alpha0202
cytochrome P450 2C9, partial2002
ATP-dependent phosphofructokinase3003
Carbonic anhydrase 10101
Carbonic anhydrase 20101
Carbonic anhydrase 40101
Carbonic anhydrase0101
Carbonic anhydrase 150101
thioredoxin reductase2002
NPC intracellular cholesterol transporter 1 precursor1001
Solute carrier family 22 member 1 0202
Sodium-dependent noradrenaline transporter0101
Tryptophan 5-hydroxylase 10101
Angiotensin-converting enzyme0202
Aldo-keto reductase family 1 member B10101
5-hydroxytryptamine receptor 1A0528
Acetylcholinesterase0101
Aromatase0101
Sodium-dependent dopamine transporter0101
Alpha-1D adrenergic receptor0214
Sodium-dependent serotonin transporter0101
Histamine H1 receptor0303
5-hydroxytryptamine receptor 70202
Sigma intracellular receptor 20101
Sodium-dependent serotonin transporter0101
Sodium-dependent dopamine transporter0101
Nuclear receptor subfamily 3 group C member 3 0202
Sigma non-opioid intracellular receptor 10101
Transporter0202
Gamma-aminobutyric acid 0101
glp-1 receptor, partial1001
GLI family zinc finger 32002
cytochrome P450 family 3 subfamily A polypeptide 42002
vitamin D (1,25- dihydroxyvitamin D3) receptor1001
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a1001
Gamma-aminobutyric acid receptor subunit pi0202
Gamma-aminobutyric acid receptor subunit delta0202
Voltage-dependent calcium channel gamma-2 subunit1001
Fatty acid-binding protein, liver0202
Alpha-1-acid glycoprotein 10001
Albumin0023
Albumin0011
Gamma-aminobutyric acid receptor subunit alpha-10202
Gamma-aminobutyric acid receptor subunit beta-10202
Neuronal acetylcholine receptor subunit alpha-40101
Gamma-aminobutyric acid receptor subunit alpha-20202
Gamma-aminobutyric acid receptor subunit alpha-30202
Neuronal acetylcholine receptor subunit beta-20101
Gamma-aminobutyric acid receptor subunit alpha-10224
Translocator protein0113
Gamma-aminobutyric acid receptor subunit alpha-60101
Gamma-aminobutyric acid receptor subunit beta-10202
Gamma-aminobutyric acid receptor subunit gamma-20213
Glutamate receptor 21001
Gamma-aminobutyric acid receptor subunit alpha-40202
Gamma-aminobutyric acid receptor subunit gamma-20202
Gamma-aminobutyric acid receptor subunit gamma-20101
Gamma-aminobutyric acid receptor subunit delta0101
Gamma-aminobutyric acid receptor subunit alpha-20101
Gamma-aminobutyric acid receptor subunit alpha-30101
Gamma-aminobutyric acid receptor subunit gamma-30101
Gamma-aminobutyric acid receptor subunit beta-30213
Translocator protein0101
Translocator protein0101
Cholecystokinin receptor type A0101
Gastrin/cholecystokinin type B receptor0101
Gamma-aminobutyric acid receptor subunit alpha-50224
Gamma-aminobutyric acid receptor subunit alpha-30213
Gamma-aminobutyric acid receptor subunit alpha-20213
Gamma-aminobutyric acid receptor subunit beta-20213
Gamma-aminobutyric acid receptor subunit alpha-40202
Gamma-aminobutyric acid receptor subunit beta-10101
Gamma-aminobutyric acid receptor subunit alpha-10101
Gamma-aminobutyric acid receptor subunit beta-30101
Gamma-aminobutyric acid receptor subunit epsilon0202
Neuronal acetylcholine receptor subunit alpha-70101
Gamma-aminobutyric acid receptor subunit alpha-60202
Gamma-aminobutyric acid receptor subunit alpha-50101
Gamma-aminobutyric acid receptor subunit gamma-10202
Gamma-aminobutyric acid receptor subunit pi0101
Sphingosine-1-phosphate lyase 10101
ATPase family AAA domain-containing protein 51001
Gamma-aminobutyric acid receptor subunit gamma-30202
Gamma-aminobutyric acid receptor subunit alpha-40101
Gamma-aminobutyric acid receptor subunit theta0101
Gamma-aminobutyric acid receptor subunit gamma-10101
Gamma-aminobutyric acid receptor subunit theta0202
Luciferase1001
Spike glycoprotein0011
Replicase polyprotein 1ab0011
Transmembrane protease serine 20011
Procathepsin L0011
Replicase polyprotein 1a0011
Replicase polyprotein 1ab0011
Replicase polyprotein 1ab0011
Replicase polyprotein 1ab0011
Alpha-1D adrenergic receptor0213
Angiotensin-converting enzyme 2 0011
Histamine H4 receptor0101
Potassium channel subfamily K member 30101
Potassium channel subfamily K member 20101
Sodium channel protein type 1 subunit alpha0101
Sodium channel protein type 2 subunit alpha0101
Sodium channel protein type 3 subunit alpha0101
Cytochrome P450 2C9 0202
Cytochrome P450 2J20202
Chain A, HADH2 protein1001
Chain B, HADH2 protein1001
15-lipoxygenase, partial1001
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105), isoform CRA_a1001
beta-2 adrenergic receptor1001
cytochrome P450 2C19 precursor1001
Beta-1 adrenergic receptor 0113
arylsulfatase A1001
Bile salt export pump0101
Cytochrome P450 1A20101
Beta-2 adrenergic receptor0224
Cytochrome P450 3A40101
5-hydroxytryptamine receptor 1A0101
Beta-2 adrenergic receptor0203
Cytochrome P450 2D60101
Beta-1 adrenergic receptor0214
Alpha-2C adrenergic receptor0124
D(3) dopamine receptor0101
Alpha-2B adrenergic receptor0011
Voltage-dependent L-type calcium channel subunit alpha-1C0101
Alpha-2C adrenergic receptor0011
Alpha-2A adrenergic receptor0011
Beta-3 adrenergic receptor0202
5-hydroxytryptamine receptor 1B0213
5-hydroxytryptamine receptor 1B0202
Adenosine receptor A2a0112
Neuromedin-K receptor0011
Type-1 angiotensin II receptor0112
Cholecystokinin receptor type A0112
Cytochrome P450 2C190101
5-hydroxytryptamine receptor 70112
Beta-1 adrenergic receptor0101
Alpha-1A adrenergic receptor0124
Alpha-1B adrenergic receptor0012
Vasopressin V1a receptor0112
Beta-2 adrenergic receptor0101
Sodium/bile acid cotransporter0101
Beta-2 adrenergic receptor0113
Nuclear receptor subfamily 2 group E member 10022
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE1001
Chain A, ATP-DEPENDENT DNA HELICASE Q11001
IDH11001
activating transcription factor 61001
transcriptional regulator ERG isoform 31001
DNA polymerase iota isoform a (long)1001
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]