short QT syndrome

Summary
Definition
A heart conduction disease that is characterized by heart arrhythmia defined as a short QT interval on an EKG (less than 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart.
Super Class
heart conduction disease
Disease Ontology
DOID:0050793
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
3757 KCNH2 potassium voltage-gated channel subfamily H member 2
3784 KCNQ1 potassium voltage-gated channel subfamily Q member 1
81033 KCNH6 potassium voltage-gated channel subfamily H member 6
Displaying all 3 entries
Gene ID Gene Symbol Description Source
16511 Kcnh2 potassium voltage-gated channel, subfamily H (eag-related), member 2
16535 Kcnq1 potassium voltage-gated channel, subfamily Q, member 1
20536 Slc4a3 solute carrier family 4 (anion exchanger), member 3
Displaying all 3 entries
Gene ID Gene Symbol Description Source
24781 Slc4a3 solute carrier family 4 member 3
84020 Kcnq1 potassium voltage-gated channel subfamily Q member 1
117018 Kcnh2 potassium voltage-gated channel subfamily H member 2
Displaying all 2 entries
Gene ID Gene Symbol Description Source
175527 unc-103 Cyclic nucleotide-binding domain-containing protein;Potassium voltage-gated channel unc-103
180943 abts-4 Anion exchange protein
The Human Phenotype Ontology
Displaying all 9 entries
HPO ID HPO Term
HP:0001663 Ventricular fibrillation
HP:0005110 Atrial fibrillation
HP:0001645 Sudden cardiac death
HP:0001962 Palpitations
HP:0001279 Syncope
HP:0001678 Atrioventricular block
HP:0004308 Ventricular arrhythmia
HP:0001662 Bradycardia
HP:0012232 Shortened QT interval
Displaying 1 entry
Gene ID Gene Symbol Description
781 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024