SQT1
MCID: SHR031
MIFTS: 22

Short Qt Syndrome 1 (SQT1)

Categories: Cardiovascular diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Short Qt Syndrome 1

MalaCards integrated aliases for Short Qt Syndrome 1:

Name: Short Qt Syndrome 1 58 76 30 6 74
Sqt1 58 76
Qt Syndrome, Short, Type 1 41
Short Qt Syndrome-1 13

Characteristics:

HPO:

33
short qt syndrome 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Short Qt Syndrome 1

OMIM : 58 Short QT syndrome is a cardiac channelopathy associated with a predisposition to atrial fibrillation and sudden cardiac death. Patients have a structurally normal heart, but electrocardiography (ECG) exhibits abbreviated QTc (Bazett's corrected QT) intervals of less than 360 ms (summary by Moreno et al., 2015). (609620)

MalaCards based summary : Short Qt Syndrome 1, also known as sqt1, is related to short qt syndrome 2 and short qt syndrome 3. An important gene associated with Short Qt Syndrome 1 is KCNH2 (Potassium Voltage-Gated Channel Subfamily H Member 2). Affiliated tissues include heart, and related phenotypes are syncope and cardiac arrest

UniProtKB/Swiss-Prot : 76 Short QT syndrome 1: A heart disorder characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structural heart disease in affected individuals. It causes syncope and sudden death.

Related Diseases for Short Qt Syndrome 1

Diseases in the Short Syndrome family:

Short Qt Syndrome 1 Short Qt Syndrome 2
Short Qt Syndrome 3 Short Qt Syndrome
Familial Short Qt Syndrome

Diseases related to Short Qt Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 short qt syndrome 2 11.1
2 short qt syndrome 3 11.1
3 ventricular fibrillation, paroxysmal familial, 1 9.9
4 short qt syndrome 9.9

Symptoms & Phenotypes for Short Qt Syndrome 1

Human phenotypes related to Short Qt Syndrome 1:

33
# Description HPO Frequency HPO Source Accession
1 syncope 33 HP:0001279
2 cardiac arrest 33 HP:0001695
3 palpitations 33 HP:0001962
4 shortened qt interval 33 HP:0012232

Clinical features from OMIM:

609620

Drugs & Therapeutics for Short Qt Syndrome 1

Search Clinical Trials , NIH Clinical Center for Short Qt Syndrome 1

Genetic Tests for Short Qt Syndrome 1

Genetic tests related to Short Qt Syndrome 1:

# Genetic test Affiliating Genes
1 Short Qt Syndrome 1 30 KCNH2

Anatomical Context for Short Qt Syndrome 1

MalaCards organs/tissues related to Short Qt Syndrome 1:

42
Heart

Publications for Short Qt Syndrome 1

Articles related to Short Qt Syndrome 1:

# Title Authors Year
1
Transgenic short-QT syndrome 1 rabbits mimic the human disease phenotype with QT/action potential duration shortening in the atria and ventricles and increased ventricular tachycardia/ventricular fibrillation inducibility. ( 30496390 )
2018
2
SQT1, which encodes an essential WD domain protein of Saccharomyces cerevisiae, suppresses dominant-negative mutations of the ribosomal protein gene QSR1. ( 9271392 )
1997

Variations for Short Qt Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Short Qt Syndrome 1:

76
# Symbol AA change Variation ID SNP ID
1 KCNH2 p.Asn588Lys VAR_023840 rs104894021

ClinVar genetic disease variations for Short Qt Syndrome 1:

6 (show all 13)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNH2 NM_000238.3(KCNH2): c.1764C> G (p.Asn588Lys) single nucleotide variant Pathogenic rs104894021 GRCh37 Chromosome 7, 150648717: 150648717
2 KCNH2 NM_000238.3(KCNH2): c.1764C> G (p.Asn588Lys) single nucleotide variant Pathogenic rs104894021 GRCh38 Chromosome 7, 150951629: 150951629
3 KCNH2 NM_000238.3(KCNH2): c.1764C> A (p.Asn588Lys) single nucleotide variant Pathogenic rs104894021 GRCh37 Chromosome 7, 150648717: 150648717
4 KCNH2 NM_000238.3(KCNH2): c.1764C> A (p.Asn588Lys) single nucleotide variant Pathogenic rs104894021 GRCh38 Chromosome 7, 150951629: 150951629
5 KCNH2 NM_000238.3(KCNH2): c.1750G> A (p.Gly584Ser) single nucleotide variant Pathogenic/Likely pathogenic rs199473428 GRCh37 Chromosome 7, 150648731: 150648731
6 KCNH2 NM_000238.3(KCNH2): c.1750G> A (p.Gly584Ser) single nucleotide variant Pathogenic/Likely pathogenic rs199473428 GRCh38 Chromosome 7, 150951643: 150951643
7 KCNH2 NM_000238.3(KCNH2): c.934C> T (p.Arg312Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199472885 GRCh37 Chromosome 7, 150654573: 150654573
8 KCNH2 NM_000238.3(KCNH2): c.934C> T (p.Arg312Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199472885 GRCh38 Chromosome 7, 150957485: 150957485
9 KCNH2 NM_000238.3(KCNH2): c.934C> T (p.Arg312Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199472885 NCBI36 Chromosome 7, 150285506: 150285506
10 KCNH2 NM_001204798.1(KCNH2): c.78C> T (p.Ala26=) single nucleotide variant Uncertain significance rs200324802 GRCh38 Chromosome 7, 150955426: 150955426
11 KCNH2 NM_001204798.1(KCNH2): c.78C> T (p.Ala26=) single nucleotide variant Uncertain significance rs200324802 GRCh37 Chromosome 7, 150652514: 150652514
12 KCNH2 NM_000238.3(KCNH2): c.872T> G (p.Met291Arg) single nucleotide variant Uncertain significance rs199472881 GRCh38 Chromosome 7, 150958103: 150958103
13 KCNH2 NM_000238.3(KCNH2): c.872T> G (p.Met291Arg) single nucleotide variant Uncertain significance rs199472881 GRCh37 Chromosome 7, 150655191: 150655191

Expression for Short Qt Syndrome 1

Search GEO for disease gene expression data for Short Qt Syndrome 1.

Pathways for Short Qt Syndrome 1

GO Terms for Short Qt Syndrome 1

Sources for Short Qt Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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45 MeSH
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50 NCI
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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