MCID: SHR032
MIFTS: 22

Short Qt Syndrome 2

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

Aliases & Classifications for Short Qt Syndrome 2

MalaCards integrated aliases for Short Qt Syndrome 2:

Name: Short Qt Syndrome 2 57 75 29 6 73
Sqt2 57 75
Qt Syndrome, Short, Type 2 40
Short Qt Syndrome-2 13

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
some patients are clinically asymptomatic


HPO:

32
short qt syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Short Qt Syndrome 2

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). For a discussion of genetic heterogeneity of short QT syndrome, see SQT1 (609620). (609621)

MalaCards based summary : Short Qt Syndrome 2, also known as sqt2, is related to short qt syndrome. An important gene associated with Short Qt Syndrome 2 is KCNQ1 (Potassium Voltage-Gated Channel Subfamily Q Member 1). Affiliated tissues include heart and atrioventricular node, and related phenotypes are syncope and sudden cardiac death

UniProtKB/Swiss-Prot : 75 Short QT syndrome 2: 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 2

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 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 short qt syndrome 9.9

Symptoms & Phenotypes for Short Qt Syndrome 2

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
bradycardia
short qt interval
atrial fibrillation
slow ventricular response
coexisting sinus and atrioventricular node dysfunction
more

Clinical features from OMIM:

609621

Human phenotypes related to Short Qt Syndrome 2:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 syncope 32 HP:0001279
2 sudden cardiac death 32 HP:0001645
3 bradycardia 32 HP:0001662
4 ventricular fibrillation 32 occasional (7.5%) HP:0001663
5 atrial fibrillation 32 HP:0005110
6 shortened qt interval 32 HP:0012232

Drugs & Therapeutics for Short Qt Syndrome 2

Search Clinical Trials , NIH Clinical Center for Short Qt Syndrome 2

Genetic Tests for Short Qt Syndrome 2

Genetic tests related to Short Qt Syndrome 2:

# Genetic test Affiliating Genes
1 Short Qt Syndrome 2 29 KCNQ1

Anatomical Context for Short Qt Syndrome 2

MalaCards organs/tissues related to Short Qt Syndrome 2:

41
Heart, Atrioventricular Node

Publications for Short Qt Syndrome 2

Articles related to Short Qt Syndrome 2:

# Title Authors Year
1
Structural interplay of KV7.1 and KCNE1 is essential for normal repolarization and is compromised in short QT syndrome 2 (KV7.1-A287T). ( 28491751 )
2016
2
Characterization of a Chinese KCNQ1 mutation (R259H) that shortens repolarization and causes short QT syndrome 2. ( 26346102 )
2015

Variations for Short Qt Syndrome 2

UniProtKB/Swiss-Prot genetic disease variations for Short Qt Syndrome 2:

75
# Symbol AA change Variation ID SNP ID
1 KCNQ1 p.Val307Leu VAR_023841 rs120074195

ClinVar genetic disease variations for Short Qt Syndrome 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNQ1 NM_000218.2(KCNQ1): c.919G> C (p.Val307Leu) single nucleotide variant Pathogenic rs120074195 GRCh37 Chromosome 11, 2594214: 2594214
2 KCNQ1 NM_000218.2(KCNQ1): c.919G> C (p.Val307Leu) single nucleotide variant Pathogenic rs120074195 GRCh38 Chromosome 11, 2572984: 2572984
3 KCNQ1 NM_000218.2(KCNQ1): c.1588C> T (p.Gln530Ter) single nucleotide variant Pathogenic rs397508097 GRCh37 Chromosome 11, 2790147: 2790147
4 KCNQ1 NM_000218.2(KCNQ1): c.1588C> T (p.Gln530Ter) single nucleotide variant Pathogenic rs397508097 GRCh38 Chromosome 11, 2768917: 2768917
5 KCNQ1 NM_000218.2(KCNQ1): c.421G> A (p.Val141Met) single nucleotide variant Pathogenic/Likely pathogenic rs199472687 GRCh37 Chromosome 11, 2549192: 2549192
6 KCNQ1 NM_000218.2(KCNQ1): c.421G> A (p.Val141Met) single nucleotide variant Pathogenic/Likely pathogenic rs199472687 GRCh38 Chromosome 11, 2527962: 2527962
7 KCNQ1 NM_000218.2(KCNQ1): c.835T> A (p.Phe279Ile) single nucleotide variant Pathogenic rs1057519584 GRCh38 Chromosome 11, 2572900: 2572900
8 KCNQ1 NM_000218.2(KCNQ1): c.835T> A (p.Phe279Ile) single nucleotide variant Pathogenic rs1057519584 GRCh37 Chromosome 11, 2594130: 2594130

Expression for Short Qt Syndrome 2

Search GEO for disease gene expression data for Short Qt Syndrome 2.

Pathways for Short Qt Syndrome 2

GO Terms for Short Qt Syndrome 2

Sources for Short Qt Syndrome 2

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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