MCID: FML294
MIFTS: 33

Familial Short Qt Syndrome

Categories: Rare diseases, Genetic diseases, Eye diseases, Skin diseases, Endocrine diseases, Fetal diseases, Oral diseases, Cardiovascular 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 KCNH2 (Potassium Voltage-Gated Channel Subfamily H Member 2), and among its related pathways/superpathways are Transmission across Chemical Synapses and Cardiac conduction. Related phenotypes are shortened qt interval and bradycardia

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 27)
# Related Disease Score Top Affiliating Genes
1 short qt syndrome 27.3 CACNA2D1 KCNH2 KCNJ2 KCNQ1
2 qt interval, variation in 11.1
3 long qt syndrome 13 9.6 KCNH2 KCNQ1
4 long qt syndrome 12 9.6 KCNH2 KCNQ1
5 long qt syndrome 3 9.6 KCNH2 KCNQ1
6 cardiac conduction defect 9.6 KCNH2 KCNQ1
7 ventricular fibrillation, paroxysmal familial, 1 9.5 KCNH2 KCNQ1
8 jervell and lange-nielsen syndrome 1 9.5 KCNH2 KCNQ1
9 catecholaminergic polymorphic ventricular tachycardia 9.5 KCNH2 KCNJ2
10 atrioventricular block 9.4 KCNH2 KCNQ1
11 timothy syndrome 9.2 CACNA2D1 KCNH2 KCNQ1
12 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.0 KCNH2 KCNJ2 KCNQ1
13 syncope 9.0 KCNH2 KCNJ2 KCNQ1
14 long qt syndrome 5 9.0 KCNH2 KCNJ2 KCNQ1
15 brugada syndrome 9.0 CACNA2D1 KCNH2 KCNQ1
16 long qt syndrome 6 9.0 KCNH2 KCNJ2 KCNQ1
17 cardiac arrhythmia 9.0 KCNH2 KCNJ2 KCNQ1
18 andersen cardiodysrhythmic periodic paralysis 9.0 KCNH2 KCNJ2 KCNQ1
19 long qt syndrome 2 9.0 KCNH2 KCNJ2 KCNQ1
20 sudden infant death syndrome 9.0 KCNH2 KCNQ1
21 heart conduction disease 9.0 KCNH2 KCNJ2 KCNQ1
22 intrinsic cardiomyopathy 9.0 KCNH2 KCNJ2 KCNQ1
23 long qt syndrome 1 9.0 KCNH2 KCNJ2 KCNQ1
24 familial atrial fibrillation 9.0 KCNH2 KCNJ2 KCNQ1
25 atrial fibrillation 8.9 KCNH2 KCNJ2 KCNQ1
26 long qt syndrome 8.9 KCNH2 KCNJ2 KCNQ1
27 heart disease 8.6 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 shortened qt interval 59 32 obligate (100%) Obligate (100%) HP:0012232
2 bradycardia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001662
3 palpitations 59 32 frequent (33%) Frequent (79-30%) HP:0001962
4 atrial fibrillation 59 32 frequent (33%) Frequent (79-30%) HP:0005110
5 syncope 59 32 occasional (7.5%) Occasional (29-5%) HP:0001279
6 sudden cardiac death 59 32 occasional (7.5%) Occasional (29-5%) HP:0001645
7 ventricular fibrillation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001663
8 atrioventricular block 59 32 occasional (7.5%) Occasional (29-5%) HP:0001678
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

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 302)
# 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 KCNQ1 NM_000218.2(KCNQ1): c.435C> T (p.Ile145=) single nucleotide variant Benign/Likely benign rs1800170 GRCh37 Chromosome 11, 2549206: 2549206
10 KCNQ1 NM_000218.2(KCNQ1): c.435C> T (p.Ile145=) single nucleotide variant Benign/Likely benign rs1800170 GRCh38 Chromosome 11, 2527976: 2527976
11 KCNQ1 NM_000218.2(KCNQ1): c.513C> T (p.Tyr171=) single nucleotide variant Benign/Likely benign rs139042529 GRCh37 Chromosome 11, 2591893: 2591893
12 KCNQ1 NM_000218.2(KCNQ1): c.513C> T (p.Tyr171=) single nucleotide variant Benign/Likely benign rs139042529 GRCh38 Chromosome 11, 2570663: 2570663
13 KCNQ1 NM_000218.2(KCNQ1): c.477+9C> T single nucleotide variant Benign/Likely benign rs28730664 GRCh37 Chromosome 11, 2549257: 2549257
14 KCNQ1 NM_000218.2(KCNQ1): c.477+9C> T single nucleotide variant Benign/Likely benign rs28730664 GRCh38 Chromosome 11, 2528027: 2528027
15 TRPM4 NM_017636.3(TRPM4): c.678C> G (p.Asp226Glu) single nucleotide variant Uncertain significance rs730880236 GRCh38 Chromosome 19, 49168618: 49168618
16 TRPM4 NM_017636.3(TRPM4): c.678C> G (p.Asp226Glu) single nucleotide variant Uncertain significance rs730880236 GRCh37 Chromosome 19, 49671875: 49671875
17 KCNJ2 NM_000891.2(KCNJ2): c.1229A> G (p.Asn410Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141069645 GRCh37 Chromosome 17, 68172409: 68172409
18 KCNJ2 NM_000891.2(KCNJ2): c.1229A> G (p.Asn410Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141069645 GRCh38 Chromosome 17, 70176268: 70176268
19 KCNQ1 NM_000218.2(KCNQ1): c.1110G> A (p.Ala370=) single nucleotide variant Benign/Likely benign rs1805118 GRCh38 Chromosome 11, 2585289: 2585289
20 KCNQ1 NM_000218.2(KCNQ1): c.1110G> A (p.Ala370=) single nucleotide variant Benign/Likely benign rs1805118 GRCh37 Chromosome 11, 2606519: 2606519
21 KCNQ1 NM_000218.2(KCNQ1): c.1986C> G (p.Tyr662Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs11601907 GRCh37 Chromosome 11, 2869188: 2869188
22 KCNQ1 NM_000218.2(KCNQ1): c.1986C> G (p.Tyr662Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs11601907 GRCh38 Chromosome 11, 2847958: 2847958
23 KCNQ1 NM_000218.2(KCNQ1): c.1875C> T (p.Pro625=) single nucleotide variant Conflicting interpretations of pathogenicity rs112113213 GRCh38 Chromosome 11, 2847847: 2847847
24 KCNQ1 NM_000218.2(KCNQ1): c.1875C> T (p.Pro625=) single nucleotide variant Conflicting interpretations of pathogenicity rs112113213 GRCh37 Chromosome 11, 2869077: 2869077
25 KCNJ2 NM_000891.2(KCNJ2): c.1259C> T (p.Pro420Leu) single nucleotide variant Uncertain significance rs749707062 GRCh38 Chromosome 17, 70176298: 70176298
26 KCNJ2 NM_000891.2(KCNJ2): c.1259C> T (p.Pro420Leu) single nucleotide variant Uncertain significance rs749707062 GRCh37 Chromosome 17, 68172439: 68172439
27 KCNQ1 NM_000218.2(KCNQ1): c.-38C> T single nucleotide variant Uncertain significance rs886048160 GRCh37 Chromosome 11, 2466291: 2466291
28 KCNQ1 NM_000218.2(KCNQ1): c.-38C> T single nucleotide variant Uncertain significance rs886048160 GRCh38 Chromosome 11, 2445061: 2445061
29 KCNQ1 NM_000218.2(KCNQ1): c.1514+3G> A single nucleotide variant Uncertain significance rs374767819 GRCh37 Chromosome 11, 2683314: 2683314
30 KCNQ1 NM_000218.2(KCNQ1): c.1514+3G> A single nucleotide variant Uncertain significance rs374767819 GRCh38 Chromosome 11, 2662084: 2662084
31 KCNQ1 NM_000218.2(KCNQ1): c.1514+9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs770840921 GRCh37 Chromosome 11, 2683320: 2683320
32 KCNQ1 NM_000218.2(KCNQ1): c.1514+9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs770840921 GRCh38 Chromosome 11, 2662090: 2662090
33 KCNQ1 NM_000218.2(KCNQ1): c.1514+4974G> A single nucleotide variant Likely benign rs188083723 GRCh37 Chromosome 11, 2688285: 2688285
34 KCNQ1 NM_000218.2(KCNQ1): c.1514+4974G> A single nucleotide variant Likely benign rs188083723 GRCh38 Chromosome 11, 2667055: 2667055
35 KCNQ1 NM_000218.2(KCNQ1): c.*26C> A single nucleotide variant Uncertain significance rs886048166 GRCh38 Chromosome 11, 2848029: 2848029
36 KCNQ1 NM_000218.2(KCNQ1): c.*26C> A single nucleotide variant Uncertain significance rs886048166 GRCh37 Chromosome 11, 2869259: 2869259
37 KCNQ1 NM_000218.2(KCNQ1): c.*241G> A single nucleotide variant Likely benign rs142023323 GRCh38 Chromosome 11, 2848244: 2848244
38 KCNQ1 NM_000218.2(KCNQ1): c.*241G> A single nucleotide variant Likely benign rs142023323 GRCh37 Chromosome 11, 2869474: 2869474
39 KCNQ1 NM_000218.2(KCNQ1): c.*292C> A single nucleotide variant Uncertain significance rs886048169 GRCh38 Chromosome 11, 2848295: 2848295
40 KCNQ1 NM_000218.2(KCNQ1): c.*292C> A single nucleotide variant Uncertain significance rs886048169 GRCh37 Chromosome 11, 2869525: 2869525
41 KCNQ1 NM_000218.2(KCNQ1): c.*377delG deletion Likely benign rs762386874 GRCh38 Chromosome 11, 2848380: 2848380
42 KCNQ1 NM_000218.2(KCNQ1): c.*377delG deletion Likely benign rs762386874 GRCh37 Chromosome 11, 2869610: 2869610
43 KCNQ1 NM_000218.2(KCNQ1): c.*392A> C single nucleotide variant Uncertain significance rs868129989 GRCh37 Chromosome 11, 2869625: 2869625
44 KCNQ1 NM_000218.2(KCNQ1): c.*392A> C single nucleotide variant Uncertain significance rs868129989 GRCh38 Chromosome 11, 2848395: 2848395
45 KCNQ1 NM_000218.2(KCNQ1): c.*398C> T single nucleotide variant Uncertain significance rs886048170 GRCh37 Chromosome 11, 2869631: 2869631
46 KCNQ1 NM_000218.2(KCNQ1): c.*398C> T single nucleotide variant Uncertain significance rs886048170 GRCh38 Chromosome 11, 2848401: 2848401
47 KCNQ1 NM_000218.2(KCNQ1): c.*411C> T single nucleotide variant Likely benign rs45460605 GRCh37 Chromosome 11, 2869644: 2869644
48 KCNQ1 NM_000218.2(KCNQ1): c.*411C> T single nucleotide variant Likely benign rs45460605 GRCh38 Chromosome 11, 2848414: 2848414
49 KCNQ1 NM_000218.2(KCNQ1): c.*464G> A single nucleotide variant Likely benign rs141960532 GRCh37 Chromosome 11, 2869697: 2869697
50 KCNQ1 NM_000218.2(KCNQ1): c.*464G> A single nucleotide variant Likely benign rs141960532 GRCh38 Chromosome 11, 2848467: 2848467

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 19)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.78 CACNA2D1 KCNH2 KCNJ2 KCNQ1
2 regulation of ion transmembrane transport GO:0034765 9.71 CACNA2D1 KCNH2 KCNJ2 KCNQ1
3 potassium ion transport GO:0006813 9.7 KCNH2 KCNJ2 KCNQ1
4 potassium ion transmembrane transport GO:0071805 9.69 KCNH2 KCNJ2 KCNQ1
5 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.61 CACNA2D1 KCNH2 KCNQ1
6 cellular response to drug GO:0035690 9.58 KCNH2 KCNQ1
7 cardiac muscle contraction GO:0060048 9.58 KCNH2 KCNQ1
8 cardiac muscle cell action potential involved in contraction GO:0086002 9.57 CACNA2D1 KCNJ2
9 ventricular cardiac muscle cell action potential GO:0086005 9.56 KCNH2 KCNQ1
10 membrane repolarization GO:0086009 9.55 KCNH2 KCNQ1
11 potassium ion export GO:0071435 9.54 KCNH2 KCNQ1
12 positive regulation of potassium ion transmembrane transport GO:1901381 9.54 KCNH2 KCNJ2 KCNQ1
13 regulation of membrane repolarization GO:0060306 9.5 KCNH2 KCNJ2 KCNQ1
14 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.49 KCNH2 KCNQ1
15 potassium ion export across plasma membrane GO:0097623 9.46 KCNH2 KCNQ1
16 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.43 KCNH2 KCNJ2 KCNQ1
17 membrane repolarization during action potential GO:0086011 9.33 KCNH2 KCNJ2 KCNQ1
18 cardiac conduction GO:0061337 9.26 CACNA2D1 KCNH2 KCNJ2 KCNQ1
19 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 voltage-gated potassium channel activity GO:0005249 9.43 KCNH2 KCNQ1
3 phosphatidylinositol-4,5-bisphosphate binding GO:0005546 9.4 KCNJ2 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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