SQTS
MCID: FML294
MIFTS: 35

Familial Short Qt Syndrome (SQTS)

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

Aliases & Classifications for Familial Short Qt Syndrome

MalaCards integrated aliases for Familial Short Qt Syndrome:

Name: Familial Short Qt Syndrome 59
Genetic Short Qt Syndrome 73
Sqts 59

Characteristics:

Orphanet epidemiological data:

59
familial short qt syndrome
Inheritance: Autosomal dominant; Age of onset: All ages;

Classifications:



External Ids:

Orphanet 59 ORPHA51083
ICD10 via Orphanet 34 I49.8
UMLS 73 C3697638

Summaries for Familial Short Qt Syndrome

MalaCards based summary : Familial Short Qt Syndrome, also known as genetic short qt syndrome, is related to short qt syndrome and qt interval, variation in. An important gene associated with Familial Short Qt Syndrome is KCNQ1 (Potassium Voltage-Gated Channel Subfamily Q Member 1), and among its related pathways/superpathways are Transmission across Chemical Synapses and Cardiac conduction. Affiliated tissues include skin, eye and heart, and related phenotypes are sudden cardiac death and atrioventricular block

Related Diseases for Familial Short Qt Syndrome

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 Familial Short Qt Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
# Related Disease Score Top Affiliating Genes
1 short qt syndrome 29.1 CACNA2D1 KCNH2 KCNJ2 KCNQ1
2 qt interval, variation in 11.3
3 long qt syndrome 13 9.9 KCNH2 KCNQ1
4 long qt syndrome 12 9.9 KCNH2 KCNQ1
5 long qt syndrome 3 9.9 KCNH2 KCNQ1
6 cardiac conduction defect 9.9 KCNH2 KCNQ1
7 jervell and lange-nielsen syndrome 1 9.9 KCNH2 KCNQ1
8 ventricular fibrillation, paroxysmal familial, 1 9.8 KCNH2 KCNQ1
9 atrioventricular block 9.8 KCNH2 KCNQ1
10 cardiac arrest 9.8 KCNH2 KCNQ1
11 catecholaminergic polymorphic ventricular tachycardia 9.8 KCNH2 KCNJ2
12 timothy syndrome 9.7 CACNA2D1 KCNH2 KCNQ1
13 syncope 9.7 KCNH2 KCNJ2 KCNQ1
14 brugada syndrome 9.7 CACNA2D1 KCNH2 KCNQ1
15 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.7 KCNH2 KCNJ2 KCNQ1
16 long qt syndrome 5 9.7 KCNH2 KCNJ2 KCNQ1
17 long qt syndrome 9.7 KCNH2 KCNJ2 KCNQ1
18 long qt syndrome 6 9.7 KCNH2 KCNJ2 KCNQ1
19 cardiac arrhythmia 9.7 KCNH2 KCNJ2 KCNQ1
20 andersen cardiodysrhythmic periodic paralysis 9.7 KCNH2 KCNJ2 KCNQ1
21 long qt syndrome 2 9.7 KCNH2 KCNJ2 KCNQ1
22 sudden infant death syndrome 9.7 KCNH2 KCNQ1
23 heart conduction disease 9.7 KCNH2 KCNJ2 KCNQ1
24 intrinsic cardiomyopathy 9.7 KCNH2 KCNJ2 KCNQ1
25 long qt syndrome 1 9.7 KCNH2 KCNJ2 KCNQ1
26 familial atrial fibrillation 9.7 KCNH2 KCNJ2 KCNQ1
27 atrial fibrillation 9.7 KCNH2 KCNJ2 KCNQ1
28 heart disease 9.6 KCNH2 KCNJ2 KCNQ1

Graphical network of the top 20 diseases related to Familial Short Qt Syndrome:



Diseases related to Familial Short Qt Syndrome

Symptoms & Phenotypes for Familial Short Qt Syndrome

Human phenotypes related to Familial Short Qt Syndrome:

59 32 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sudden cardiac death 59 32 occasional (7.5%) Occasional (29-5%) HP:0001645
2 atrioventricular block 59 32 occasional (7.5%) Occasional (29-5%) HP:0001678
3 syncope 59 32 occasional (7.5%) Occasional (29-5%) HP:0001279
4 atrial fibrillation 59 32 frequent (33%) Frequent (79-30%) HP:0005110
5 palpitations 59 32 frequent (33%) Frequent (79-30%) HP:0001962
6 ventricular fibrillation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001663
7 bradycardia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001662
8 shortened qt interval 59 32 obligate (100%) Obligate (100%) HP:0012232
9 ventricular arrhythmia 59 Occasional (29-5%)

MGI Mouse Phenotypes related to Familial Short Qt Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.26 CACNA2D1 KCNH2 KCNJ2 KCNQ1
2 muscle MP:0005369 8.92 CACNA2D1 KCNH2 KCNJ2 KCNQ1

Drugs & Therapeutics for Familial Short Qt Syndrome

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

Genetic Tests for Familial Short Qt Syndrome

Anatomical Context for Familial Short Qt Syndrome

MalaCards organs/tissues related to Familial Short Qt Syndrome:

41
Skin, Eye, Heart

Publications for Familial Short Qt Syndrome

Articles related to Familial Short Qt Syndrome:

# Title Authors Year
1
[Familial short QT syndrome]. ( 17432514 )
2007

Variations for Familial Short Qt Syndrome

ClinVar genetic disease variations for Familial Short Qt Syndrome:

6 (show top 50) (show all 354)
# 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 KCNJ2 NM_000891.2(KCNJ2): c.514G> A (p.Asp172Asn) single nucleotide variant Pathogenic rs104894584 GRCh37 Chromosome 17, 68171694: 68171694
4 KCNJ2 NM_000891.2(KCNJ2): c.514G> A (p.Asp172Asn) single nucleotide variant Pathogenic rs104894584 GRCh38 Chromosome 17, 70175553: 70175553
5 KCNH2 NM_000238.3(KCNH2): c.1764C> G (p.Asn588Lys) single nucleotide variant Pathogenic rs104894021 GRCh37 Chromosome 7, 150648717: 150648717
6 KCNH2 NM_000238.3(KCNH2): c.1764C> G (p.Asn588Lys) single nucleotide variant Pathogenic rs104894021 GRCh38 Chromosome 7, 150951629: 150951629
7 KCNH2 NM_000238.3(KCNH2): c.1764C> A (p.Asn588Lys) single nucleotide variant Pathogenic rs104894021 GRCh37 Chromosome 7, 150648717: 150648717
8 KCNH2 NM_000238.3(KCNH2): c.1764C> A (p.Asn588Lys) single nucleotide variant Pathogenic rs104894021 GRCh38 Chromosome 7, 150951629: 150951629
9 KCNJ2 NM_000891.2(KCNJ2): c.660C> T (p.Ser220=) single nucleotide variant Benign rs7221086 GRCh37 Chromosome 17, 68171840: 68171840
10 KCNJ2 NM_000891.2(KCNJ2): c.660C> T (p.Ser220=) single nucleotide variant Benign rs7221086 GRCh38 Chromosome 17, 70175699: 70175699
11 KCNQ1 NM_000218.2(KCNQ1): c.1590+14T> C single nucleotide variant Benign/Likely benign rs11024034 GRCh37 Chromosome 11, 2790163: 2790163
12 KCNQ1 NM_000218.2(KCNQ1): c.1590+14T> C single nucleotide variant Benign/Likely benign rs11024034 GRCh38 Chromosome 11, 2768933: 2768933
13 KCNQ1 NM_000218.2(KCNQ1): c.1927G> A (p.Gly643Ser) single nucleotide variant Benign/Likely benign rs1800172 GRCh37 Chromosome 11, 2869129: 2869129
14 KCNQ1 NM_000218.2(KCNQ1): c.1927G> A (p.Gly643Ser) single nucleotide variant Benign/Likely benign rs1800172 GRCh38 Chromosome 11, 2847899: 2847899
15 KCNQ1 NM_000218.2(KCNQ1): c.1942G> A (p.Val648Ile) single nucleotide variant Benign/Likely benign rs34150427 GRCh37 Chromosome 11, 2869144: 2869144
16 KCNQ1 NM_000218.2(KCNQ1): c.1942G> A (p.Val648Ile) single nucleotide variant Benign/Likely benign rs34150427 GRCh38 Chromosome 11, 2847914: 2847914
17 KCNQ1 NM_000218.2(KCNQ1): c.1222C> G (p.Pro408Ala) single nucleotide variant Benign/Likely benign rs28730756 GRCh37 Chromosome 11, 2608893: 2608893
18 KCNQ1 NM_000218.2(KCNQ1): c.1222C> G (p.Pro408Ala) single nucleotide variant Benign/Likely benign rs28730756 GRCh38 Chromosome 11, 2587663: 2587663
19 KCNQ1 NM_000218.2(KCNQ1): c.1394-14C> T single nucleotide variant Benign/Likely benign rs28730758 GRCh37 Chromosome 11, 2683177: 2683177
20 KCNQ1 NM_000218.2(KCNQ1): c.1394-14C> T single nucleotide variant Benign/Likely benign rs28730758 GRCh38 Chromosome 11, 2661947: 2661947
21 KCNQ1 NM_000218.2(KCNQ1): c.1455C> T (p.Phe485=) single nucleotide variant Benign/Likely benign rs17215465 GRCh37 Chromosome 11, 2683252: 2683252
22 KCNQ1 NM_000218.2(KCNQ1): c.1455C> T (p.Phe485=) single nucleotide variant Benign/Likely benign rs17215465 GRCh38 Chromosome 11, 2662022: 2662022
23 KCNQ1 NM_000218.2(KCNQ1): c.1638G> A (p.Ser546=) single nucleotide variant Benign rs1057128 GRCh37 Chromosome 11, 2797237: 2797237
24 KCNQ1 NM_000218.2(KCNQ1): c.1638G> A (p.Ser546=) single nucleotide variant Benign rs1057128 GRCh38 Chromosome 11, 2776007: 2776007
25 KCNQ1 NM_000218.2(KCNQ1): c.1986C> T (p.Tyr662=) single nucleotide variant Benign rs11601907 GRCh37 Chromosome 11, 2869188: 2869188
26 KCNQ1 NM_000218.2(KCNQ1): c.1986C> T (p.Tyr662=) single nucleotide variant Benign rs11601907 GRCh38 Chromosome 11, 2847958: 2847958
27 KCNQ1 NM_000218.2(KCNQ1): c.478-10G> A single nucleotide variant Benign rs28730752 GRCh37 Chromosome 11, 2591848: 2591848
28 KCNQ1 NM_000218.2(KCNQ1): c.478-10G> A single nucleotide variant Benign rs28730752 GRCh38 Chromosome 11, 2570618: 2570618
29 KCNQ1 NM_000218.2(KCNQ1): c.478-8C> T single nucleotide variant Benign/Likely benign rs150711844 GRCh37 Chromosome 11, 2591850: 2591850
30 KCNQ1 NM_000218.2(KCNQ1): c.478-8C> T single nucleotide variant Benign/Likely benign rs150711844 GRCh38 Chromosome 11, 2570620: 2570620
31 KCNQ1 NM_000218.2(KCNQ1): c.720C> T (p.His240=) single nucleotide variant Benign/Likely benign rs28730754 GRCh37 Chromosome 11, 2593279: 2593279
32 KCNQ1 NM_000218.2(KCNQ1): c.720C> T (p.His240=) single nucleotide variant Benign/Likely benign rs28730754 GRCh38 Chromosome 11, 2572049: 2572049
33 KCNQ1 NM_000218.2(KCNQ1): c.1189C> T (p.Arg397Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs199472776 GRCh37 Chromosome 11, 2608860: 2608860
34 KCNQ1 NM_000218.2(KCNQ1): c.1189C> T (p.Arg397Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs199472776 GRCh38 Chromosome 11, 2587630: 2587630
35 KCNQ1 NM_000218.2(KCNQ1): c.1179G> T (p.Lys393Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs12720457 GRCh37 Chromosome 11, 2608850: 2608850
36 KCNQ1 NM_000218.2(KCNQ1): c.1179G> T (p.Lys393Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs12720457 GRCh38 Chromosome 11, 2587620: 2587620
37 KCNQ1 NM_000218.2(KCNQ1): c.1355G> A (p.Arg452Gln) single nucleotide variant Uncertain significance rs145229963 GRCh37 Chromosome 11, 2610046: 2610046
38 KCNQ1 NM_000218.2(KCNQ1): c.1355G> A (p.Arg452Gln) single nucleotide variant Uncertain significance rs145229963 GRCh38 Chromosome 11, 2588816: 2588816
39 KCNH2 NM_000238.3(KCNH2): c.150G> T (p.Glu50Asp) single nucleotide variant not provided rs199472841 GRCh37 Chromosome 7, 150671956: 150671956
40 KCNH2 NM_000238.3(KCNH2): c.150G> T (p.Glu50Asp) single nucleotide variant not provided rs199472841 GRCh38 Chromosome 7, 150974868: 150974868
41 KCNH2 NM_000238.3(KCNH2): c.1853C> T (p.Thr618Ile) single nucleotide variant not provided rs199472947 GRCh37 Chromosome 7, 150648628: 150648628
42 KCNH2 NM_000238.3(KCNH2): c.1853C> T (p.Thr618Ile) single nucleotide variant not provided rs199472947 GRCh38 Chromosome 7, 150951540: 150951540
43 KCNH2 NM_000238.3(KCNH2): c.3404G> A (p.Arg1135His) single nucleotide variant not provided rs199473547 GRCh37 Chromosome 7, 150642529: 150642529
44 KCNH2 NM_000238.3(KCNH2): c.3404G> A (p.Arg1135His) single nucleotide variant not provided rs199473547 GRCh38 Chromosome 7, 150945441: 150945441
45 CACNA1C NM_000719.6(CACNA1C): c.5918G> A (p.Arg1973Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs112414325 GRCh37 Chromosome 12, 2797746: 2797746
46 CACNA1C NM_000719.6(CACNA1C): c.5918G> A (p.Arg1973Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs112414325 GRCh38 Chromosome 12, 2688580: 2688580
47 KCNJ2 NM_000891.2(KCNJ2): c.1146C> T (p.Leu382=) single nucleotide variant Benign rs173135 GRCh37 Chromosome 17, 68172326: 68172326
48 KCNJ2 NM_000891.2(KCNJ2): c.1146C> T (p.Leu382=) single nucleotide variant Benign rs173135 GRCh38 Chromosome 17, 70176185: 70176185
49 KCNQ1 NM_000218.2(KCNQ1): c.1394-8C> T single nucleotide variant Benign/Likely benign rs371488379 GRCh38 Chromosome 11, 2661953: 2661953
50 KCNQ1 NM_000218.2(KCNQ1): c.1394-8C> T single nucleotide variant Benign/Likely benign rs371488379 GRCh37 Chromosome 11, 2683183: 2683183

Expression for Familial Short Qt Syndrome

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

Pathways for Familial Short Qt Syndrome

Pathways related to Familial Short Qt Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.31 CACNA2D1 KCNH2 KCNJ2 KCNQ1
2
Show member pathways
11.98 CACNA2D1 KCNH2 KCNJ2 KCNQ1
3 11.85 KCNH2 KCNJ2 KCNQ1
4
Show member pathways
11.69 KCNJ2 KCNQ1
5 11.67 KCNH2 KCNQ1
6
Show member pathways
11.6 KCNH2 KCNJ2 KCNQ1
7
Show member pathways
11.31 CACNA2D1 KCNQ1
8 11.17 CACNA2D1 KCNQ1
9 10.65 KCNJ2 KCNQ1
10 10.55 KCNH2 KCNJ2 KCNQ1

GO Terms for Familial Short Qt Syndrome

Cellular components related to Familial Short Qt Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 T-tubule GO:0030315 8.96 CACNA2D1 KCNJ2
2 voltage-gated potassium channel complex GO:0008076 8.8 KCNH2 KCNJ2 KCNQ1

Biological processes related to Familial Short Qt Syndrome according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.73 CACNA2D1 KCNH2 KCNJ2 KCNQ1
2 regulation of ion transmembrane transport GO:0034765 9.67 CACNA2D1 KCNH2 KCNJ2 KCNQ1
3 potassium ion transport GO:0006813 9.65 KCNH2 KCNJ2 KCNQ1
4 potassium ion transmembrane transport GO:0071805 9.63 KCNH2 KCNJ2 KCNQ1
5 cellular response to drug GO:0035690 9.58 KCNH2 KCNQ1
6 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.58 CACNA2D1 KCNH2 KCNQ1
7 cardiac muscle contraction GO:0060048 9.57 KCNH2 KCNQ1
8 ventricular cardiac muscle cell action potential GO:0086005 9.56 KCNH2 KCNQ1
9 cardiac muscle cell action potential involved in contraction GO:0086002 9.55 CACNA2D1 KCNJ2
10 potassium ion export across plasma membrane GO:0097623 9.54 KCNH2 KCNQ1
11 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.52 KCNH2 KCNQ1
12 potassium ion export GO:0071435 9.51 KCNH2 KCNQ1
13 positive regulation of potassium ion transmembrane transport GO:1901381 9.5 KCNH2 KCNJ2 KCNQ1
14 membrane repolarization GO:0086009 9.49 KCNH2 KCNQ1
15 regulation of membrane repolarization GO:0060306 9.43 KCNH2 KCNJ2 KCNQ1
16 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.33 KCNH2 KCNJ2 KCNQ1
17 membrane repolarization during action potential GO:0086011 9.13 KCNH2 KCNJ2 KCNQ1
18 regulation of heart rate by cardiac conduction GO:0086091 8.92 CACNA2D1 KCNH2 KCNJ2 KCNQ1

Molecular functions related to Familial Short Qt Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 potassium channel activity GO:0005267 9.46 KCNH2 KCNQ1
2 phosphatidylinositol-4,5-bisphosphate binding GO:0005546 9.43 KCNJ2 KCNQ1
3 voltage-gated potassium channel activity GO:0005249 9.4 KCNH2 KCNQ1
4 scaffold protein binding GO:0097110 9.37 KCNH2 KCNQ1
5 delayed rectifier potassium channel activity GO:0005251 9.32 KCNH2 KCNQ1
6 inward rectifier potassium channel activity GO:0005242 9.26 KCNH2 KCNJ2
7 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.16 KCNH2 KCNQ1
8 voltage-gated ion channel activity GO:0005244 9.13 KCNH2 KCNJ2 KCNQ1
9 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 8.8 KCNH2 KCNJ2 KCNQ1

Sources for Familial Short Qt Syndrome

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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