Details of Disease

General Information of Disease (ID: DISOI9X1)

Disease Name Short QT syndrome
Synonyms familial short QT syndrome; ventricular arrhythmia associated with short QT syndrome; short QT syndrome
Definition
A genetic disease of the electrical system of the heart that consists of a constellation of signs and symptoms, consisting of a short QT interval on an EKG (< 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. Short QT syndrome appears to be inherited in an autosomal dominant pattern, and a few affected families have been identified
Disease Hierarchy
DISLKUNL: Heart arrhythmia
DISMT2VZ: Cardiogenetic disease
DISOI9X1: Short QT syndrome
Disease Identifiers
MONDO ID
MONDO_0000453
MESH ID
C580439
UMLS CUI
C2348199
MedGen ID
378835
Orphanet ID
51083
SNOMED CT ID
698272007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 7 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
SCN5A TTZOVE0 Disputed Autosomal dominant [1]
CACNA2D1 TTFK1JQ Supportive Autosomal dominant [2]
KCNH2 TTQ6VDM moderate Genetic Variation [3]
KCNJ2 TTH7UO3 Moderate Autosomal dominant [1]
CACNA2D1 TTFK1JQ Strong Genetic Variation [2]
KCNJ2 TTH7UO3 Strong Genetic Variation [4]
KCNQ1 TT846HF Strong Genetic Variation [5]
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⏷ Show the Full List of 7 DTT(s)
This Disease Is Related to 7 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
CACNA1C DTAIV1Z Disputed Autosomal dominant [1]
CACNB2 DTBZWL4 Disputed Autosomal dominant [1]
SLC22A5 DT3HUVD Disputed Autosomal recessive [1]
SLC4A3 DT4X2AH Moderate Autosomal dominant [1]
KCNQ1 DTYE3RN Strong Autosomal dominant [1]
SLC4A3 DT4X2AH Strong Genetic Variation [6]
KCNH2 DTD0BMQ Definitive Autosomal dominant [1]
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⏷ Show the Full List of 7 DTP(s)
This Disease Is Related to 12 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CACNA1C OT6KFNMS Disputed Autosomal dominant [1]
CACNB2 OT53K8W2 Disputed Autosomal dominant [1]
SCN5A OTGYZWR6 Disputed Autosomal dominant [1]
SLC22A5 OTC36TYB Disputed Autosomal recessive [1]
CACNA2D1 OT5YLZIH Supportive Autosomal dominant [2]
KCNJ2 OT2OQEZS Moderate Autosomal dominant [1]
SLC4A3 OTXIRX39 Moderate Autosomal dominant [1]
KCNE1 OTZNQUW9 Strong Biomarker [7]
KCNQ1 OT8SPJNX Strong Autosomal dominant [1]
MYPN OTHTOFDU Strong Genetic Variation [8]
SNTA1 OTUICTGZ Strong Genetic Variation [9]
KCNH2 OTZX881H Definitive Autosomal dominant [1]
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⏷ Show the Full List of 12 DOT(s)

References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
2 Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6). Eur Heart J. 2011 May;32(9):1077-88. doi: 10.1093/eurheartj/ehr076. Epub 2011 Mar 7.
3 Patient-Specific and Gene-Corrected Induced Pluripotent Stem Cell-Derived Cardiomyocytes Elucidate Single-Cell Phenotype of Short QT Syndrome.Circ Res. 2019 Jan 4;124(1):66-78. doi: 10.1161/CIRCRESAHA.118.313518.
4 Correction: Atrial arrhythmogenicity of KCNJ2 mutations in short QT syndrome: Insights from virtual human atria.PLoS Comput Biol. 2019 Jun 13;15(6):e1007145. doi: 10.1371/journal.pcbi.1007145. eCollection 2019 Jun.
5 Human Atrial Arrhythmogenesis and Sinus Bradycardia in KCNQ1-Linked Short QT Syndrome: Insights From Computational Modelling.Front Physiol. 2018 Oct 4;9:1402. doi: 10.3389/fphys.2018.01402. eCollection 2018.
6 Loss-of-activity-mutation in the cardiac chloride-bicarbonate exchanger AE3 causes short QT syndrome. Nat Commun. 2017 Nov 22;8(1):1696. doi: 10.1038/s41467-017-01630-0.
7 A new KCNQ1 mutation at the S5 segment that impairs its association with KCNE1 is responsible for short QT syndrome.Cardiovasc Res. 2015 Sep 1;107(4):613-23. doi: 10.1093/cvr/cvv196. Epub 2015 Jul 13.
8 Novel trigenic CACNA1C/DES/MYPN mutations in a family of hypertrophic cardiomyopathy with early repolarization and short QT syndrome.J Transl Med. 2017 Apr 20;15(1):78. doi: 10.1186/s12967-017-1180-1.
9 Postmortem Genetic Testing for Cardiac Ion Channelopathies in Stillbirths.Circ Genom Precis Med. 2018 Jan;11(1):e001817. doi: 10.1161/CIRCGEN.117.001817. Epub 2018 Jan 11.