MCID: SHR031
MIFTS: 20

Short Qt Syndrome 1

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

Aliases & Classifications for Short Qt Syndrome 1

MalaCards integrated aliases for Short Qt Syndrome 1:

Name: Short Qt Syndrome 1 57 75 29 6 73
Sqt1 57 75
Qt Syndrome, Short, Type 1 40
Short Qt Syndrome-1 13

Characteristics:

HPO:

32
short qt syndrome 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Short Qt Syndrome 1

OMIM : 57 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 : 75 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 10.9
2 short qt syndrome 3 10.9
3 short qt syndrome 10.0

Symptoms & Phenotypes for Short Qt Syndrome 1

Clinical features from OMIM:

609620

Human phenotypes related to Short Qt Syndrome 1:

32
# Description HPO Frequency HPO Source Accession
1 syncope 32 HP:0001279
2 cardiac arrest 32 HP:0001695
3 palpitations 32 HP:0001962
4 shortened qt interval 32 HP:0012232

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 29 KCNH2

Anatomical Context for Short Qt Syndrome 1

MalaCards organs/tissues related to Short Qt Syndrome 1:

41
Heart

Publications for Short Qt Syndrome 1

Variations for Short Qt Syndrome 1

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

75
# Symbol AA change Variation ID SNP ID
1 KCNH2 p.Asn588Lys VAR_023840 rs104894021

ClinVar genetic disease variations for Short Qt Syndrome 1:

6
# 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_001204798.1(KCNH2): c.78C> T (p.Ala26=) single nucleotide variant Uncertain significance rs200324802 GRCh38 Chromosome 7, 150955426: 150955426
8 KCNH2 NM_001204798.1(KCNH2): c.78C> T (p.Ala26=) single nucleotide variant Uncertain significance rs200324802 GRCh37 Chromosome 7, 150652514: 150652514
9 KCNH2 NM_000238.3(KCNH2): c.872T> G (p.Met291Arg) single nucleotide variant Uncertain significance rs199472881 GRCh38 Chromosome 7, 150958103: 150958103
10 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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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