LQT8
MCID: LNG052
MIFTS: 24

Long Qt Syndrome 8 (LQT8)

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Muscle diseases, Rare diseases

Aliases & Classifications for Long Qt Syndrome 8

MalaCards integrated aliases for Long Qt Syndrome 8:

Name: Long Qt Syndrome 8 57 73 29 6
Lqt8 57 73

Classifications:



External Ids:

OMIM® 57 618447
OMIM Phenotypic Series 57 PS192500
MeSH 44 D008133

Summaries for Long Qt Syndrome 8

UniProtKB/Swiss-Prot : 73 Long QT syndrome 8: A form of long QT syndrome, a heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. LQT8 transmission pattern is consistent with autosomal dominant inheritance with incomplete penetrance.

MalaCards based summary : Long Qt Syndrome 8, also known as lqt8, is related to timothy syndrome and atypical timothy syndrome. An important gene associated with Long Qt Syndrome 8 is CACNA1C (Calcium Voltage-Gated Channel Subunit Alpha1 C).

OMIM® : 57 Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (Jongbloed et al., 1999). For a discussion of genetic heterogeneity of long QT syndrome, see LQT1 (192500). (618447) (Updated 05-Mar-2021)

Related Diseases for Long Qt Syndrome 8

Graphical network of the top 20 diseases related to Long Qt Syndrome 8:



Diseases related to Long Qt Syndrome 8

Symptoms & Phenotypes for Long Qt Syndrome 8

Clinical features from OMIM®:

618447 (Updated 05-Mar-2021)

Drugs & Therapeutics for Long Qt Syndrome 8

Search Clinical Trials , NIH Clinical Center for Long Qt Syndrome 8

Genetic Tests for Long Qt Syndrome 8

Genetic tests related to Long Qt Syndrome 8:

# Genetic test Affiliating Genes
1 Long Qt Syndrome 8 29 CACNA1C

Anatomical Context for Long Qt Syndrome 8

Publications for Long Qt Syndrome 8

Articles related to Long Qt Syndrome 8:

(show all 27)
# Title Authors PMID Year
1
Long QT syndrome type 8: novel CACNA1C mutations causing QT prolongation and variant phenotypes. 61 57 6
24728418 2014
2
Penetrance and expressivity of the R858H CACNA1C variant in a five-generation pedigree segregating an arrhythmogenic channelopathy. 6 57
30345660 2019
3
Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome. 57 6
25633834 2015
4
Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome. 6 57
23677916 2013
5
Expanding the phenotype of Timothy syndrome type 2: an adolescent with ventricular fibrillation but normal development. 6
25691416 2015
6
Somatic mosaicism contributes to phenotypic variation in Timothy syndrome. 6
21910241 2011
7
Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome. 6
21307850 2011
8
The Timothy syndrome mutation differentially affects voltage- and calcium-dependent inactivation of CaV1.2 L-type calcium channels. 6
18250309 2008
9
Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. 6
15863612 2005
10
Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. 6
15454078 2004
11
Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. 57
10220144 1999
12
High Prevalence of Late-Appearing T-Wave in Patients With Long QT Syndrome Type 8. 61
32161207 2020
13
Type 8 long QT syndrome: pathogenic variants in CACNA1C-encoded Cav1.2 cluster in STAC protein binding site. 61
31408100 2019
14
A pore-localizing CACNA1C-E1115K missense mutation, identified in a patient with idiopathic QT prolongation, bradycardia, and autism spectrum disorder, converts the L-type calcium channel into a hybrid nonselective monovalent cation channel. 61
30172029 2019
15
Cardiac arrest refractory to standard intervention in atypical Timothy syndrome (LQT8 type 2). 61
27034553 2016
16
Left cardiac sympathetic denervation in the Netherlands for the treatment of inherited arrhythmia syndromes. 61
24522951 2014
17
Cellular mechanisms of ventricular arrhythmias in a mouse model of Timothy syndrome (long QT syndrome 8). 61
24215710 2014
18
Gene mutations in cardiac arrhythmias: a review of recent evidence in ion channelopathies. 61
23837003 2013
19
Ranolazine safely decreases ventricular and atrial fibrillation in Timothy syndrome (LQT8). 61
20883512 2012
20
Induced pluripotent stem cell derived cardiomyocytes as models for cardiac arrhythmias. 61
23015789 2012
21
Restoration of normal L-type Ca2+ channel function during Timothy syndrome by ablation of an anchoring protein. 61
21700933 2011
22
GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease. 61
21658281 2011
23
Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death. 61
20817017 2010
24
Increased coupled gating of L-type Ca2+ channels during hypertension and Timothy syndrome. 61
20110531 2010
25
Clinical characteristics and genetic background of congenital long-QT syndrome diagnosed in fetal, neonatal, and infantile life: a nationwide questionnaire survey in Japan. 61
19996378 2010
26
Beta-adrenergic modulation of arrhythmogenesis and identification of targeted sites of antiarrhythmic therapy in Timothy (LQT8) syndrome: a theoretical study. 61
19855067 2010
27
Verapamil decreases ventricular tachyarrhythmias in a patient with Timothy syndrome (LQT8). 61
16876748 2006

Variations for Long Qt Syndrome 8

ClinVar genetic disease variations for Long Qt Syndrome 8:

6 (show top 50) (show all 62)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CACNA1C NM_000719.7(CACNA1C):c.2570C>G (p.Pro857Arg) SNV Pathogenic 633643 rs750835733 12:2702418-2702418 12:2593252-2593252
2 CACNA1C NM_000719.7(CACNA1C):c.2500A>G (p.Lys834Glu) SNV Pathogenic 633645 rs1555836187 12:2695040-2695040 12:2585874-2585874
3 CACNA1C NM_000719.7(CACNA1C):c.1745C>A (p.Ala582Asp) SNV Pathogenic 633647 rs1568469857 12:2676810-2676810 12:2567644-2567644
4 CACNA1C NM_000719.7(CACNA1C):c.4425C>G (p.Ile1475Met) SNV Pathogenic 633648 rs1569139160 12:2774773-2774773 12:2665607-2665607
5 CACNA1C NM_000719.7(CACNA1C):c.1216G>A (p.Gly406Arg) SNV Pathogenic 17632 rs79891110 12:2614110-2614110 12:2504944-2504944
6 CACNA1C NM_000719.7(CACNA1C):c.1204G>A (p.Gly402Ser) SNV Pathogenic 17633 rs80315385 12:2614098-2614098 12:2504932-2504932
7 CACNA1C NM_000719.7(CACNA1C):c.1114-304G>C SNV Pathogenic 190634 rs786205745 12:2613704-2613704 12:2504538-2504538
8 CACNA1C NM_000719.7(CACNA1C):c.2570C>T (p.Pro857Leu) SNV Pathogenic 222515 rs750835733 12:2702418-2702418 12:2593252-2593252
9 CACNA1C NM_000719.7(CACNA1C):c.4418C>G (p.Ala1473Gly) SNV Pathogenic 196966 rs794727587 12:2774766-2774766 12:2665600-2665600
10 CACNA1C NM_000719.7(CACNA1C):c.1114-304G>A SNV Pathogenic 190633 rs786205745 12:2613704-2613704 12:2504538-2504538
11 CACNA1C NM_000719.7(CACNA1C):c.2573G>A (p.Arg858His) SNV Pathogenic 190653 rs786205753 12:2702421-2702421 12:2593255-2593255
12 CACNA1C NM_000719.7(CACNA1C):c.722T>C (p.Val241Ala) SNV Likely pathogenic 973262 12:2566837-2566837 12:2457671-2457671
13 CACNA1C NM_000719.7(CACNA1C):c.2579G>A (p.Arg860Gln) SNV Likely pathogenic 190654 rs730880056 12:2702427-2702427 12:2593261-2593261
14 CACNA1C NM_000719.7(CACNA1C):c.1113G>A (p.Trp371Ter) SNV Likely pathogenic 802809 rs1555672574 12:2602552-2602552 12:2493386-2493386
15 CACNA1C NM_000719.7(CACNA1C):c.2579G>C (p.Arg860Pro) SNV Likely pathogenic 180284 rs730880056 12:2702427-2702427 12:2593261-2593261
16 CACNA1C NM_000719.7(CACNA1C):c.3331G>A (p.Val1111Ile) SNV Uncertain significance 411719 rs766023530 12:2716271-2716271 12:2607105-2607105
17 CACNA1C NM_000719.7(CACNA1C):c.3679G>A (p.Val1227Ile) SNV Uncertain significance 234984 rs373124557 12:2719827-2719827 12:2610661-2610661
18 CACNA1C-AS1 NM_000719.7(CACNA1C):c.5098G>A (p.Gly1700Ser) SNV Uncertain significance 526905 rs761966966 12:2788616-2788616 12:2679450-2679450
19 CACNA1C-AS1 NM_000719.7(CACNA1C):c.5120T>C (p.Val1707Ala) SNV Uncertain significance 190622 rs531161884 12:2788638-2788638 12:2679472-2679472
20 CACNA1C-AS1 NM_000719.7(CACNA1C):c.5456G>A (p.Arg1819Gln) SNV Uncertain significance 456980 rs764212214 12:2791727-2791727 12:2682561-2682561
21 CACNA1C-AS1 NM_000719.7(CACNA1C):c.6001G>A (p.Gly2001Ser) SNV Uncertain significance 575699 rs552478740 12:2797829-2797829 12:2688663-2688663
22 CACNA1C-AS1 NM_000719.7(CACNA1C):c.6011G>T (p.Gly2004Val) SNV Uncertain significance 456989 rs374991642 12:2797839-2797839 12:2688673-2688673
23 CACNA1C NM_000719.7(CACNA1C):c.2T>C (p.Met1Thr) SNV Uncertain significance 190710 rs761378545 12:2162730-2162730 12:2053564-2053564
24 CACNA1C NM_000719.7(CACNA1C):c.65G>T (p.Ser22Ile) SNV Uncertain significance 578454 rs769703001 12:2224405-2224405 12:2115239-2115239
25 CACNA1C NM_000719.7(CACNA1C):c.98A>G (p.Asn33Ser) SNV Uncertain significance 190679 rs535608443 12:2224438-2224438 12:2115272-2115272
26 CACNA1C NM_000719.7(CACNA1C):c.1412C>A (p.Thr471Asn) SNV Uncertain significance 637979 rs1599718556 12:2659130-2659130 12:2549964-2549964
27 CACNA1C NM_000719.7(CACNA1C):c.2269G>C (p.Ala757Pro) SNV Uncertain significance 637980 rs560163331 12:2693713-2693713 12:2584547-2584547
28 CACNA1C-AS1 NM_000719.7(CACNA1C):c.5485GAG[1] (p.Glu1830del) Microsatellite Uncertain significance 692251 rs1603457578 12:2791754-2791756 12:2682588-2682590
29 CACNA1C-AS1 NM_000719.7(CACNA1C):c.5065G>A (p.Ala1689Thr) SNV Uncertain significance 190677 rs368700869 12:2787007-2787007 12:2677841-2677841
30 CACNA1C-AS1 NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg) SNV Uncertain significance 191427 rs374528680 12:2795382-2795382 12:2686216-2686216
31 CACNA1C NM_000719.7(CACNA1C):c.1917C>G (p.Asn639Lys) SNV Uncertain significance 393134 rs1057524804 12:2690777-2690777 12:2581611-2581611
32 CACNA1C-AS1 NM_000719.7(CACNA1C):c.6272A>G (p.Asn2091Ser) SNV Uncertain significance 216482 rs201090446 12:2800220-2800220 12:2691054-2691054
33 CACNA1C-AS1 NM_000719.7(CACNA1C):c.4942G>A (p.Ala1648Thr) SNV Uncertain significance 197406 rs370432385 12:2786373-2786373 12:2677207-2677207
34 CACNA1C NM_000719.7(CACNA1C):c.3679G>A (p.Val1227Ile) SNV Uncertain significance 234984 rs373124557 12:2719827-2719827 12:2610661-2610661
35 CACNA1C NM_000719.7(CACNA1C):c.6388G>A (p.Asp2130Asn) SNV Uncertain significance 67557 rs199473392 12:2800336-2800336 12:2691170-2691170
36 CACNA1C NM_000719.7(CACNA1C):c.1917C>A (p.Asn639Lys) SNV Uncertain significance 560694 rs1057524804 12:2690777-2690777 12:2581611-2581611
37 CACNA1C NM_000719.7(CACNA1C):c.4761G>A (p.Ala1587=) SNV Uncertain significance 264555 rs756364065 12:2783741-2783741 12:2674575-2674575
38 CACNA1C NM_000719.7(CACNA1C):c.1486C>T (p.Arg496Trp) SNV Uncertain significance 190699 rs760888275 12:2666121-2666121 12:2556955-2556955
39 CACNA1C NM_000719.7(CACNA1C):c.-233C>T SNV Uncertain significance 307972 rs886049148 12:2162496-2162496 12:2053330-2053330
40 CACNA1C NM_000719.7(CACNA1C):c.3812T>C (p.Ile1271Thr) SNV Uncertain significance 979206 12:2721163-2721163 12:2611997-2611997
41 CACNA1C NM_000719.7(CACNA1C):c.4727-9G>A SNV Uncertain significance 190618 rs757966245 12:2783698-2783698 12:2674532-2674532
42 CACNA1C-AS1 NM_000719.7(CACNA1C):c.5023G>A (p.Ala1675Thr) SNV Uncertain significance 308159 rs773930851 12:2786965-2786965 12:2677799-2677799
43 CACNA1C NM_000719.7(CACNA1C):c.2437G>A (p.Gly813Arg) SNV Uncertain significance 308139 rs545511851 12:2694639-2694639 12:2585473-2585473
44 CACNA1C-AS1 NM_000719.7(CACNA1C):c.6235_6237del (p.Asp2079del) Deletion Uncertain significance 308163 rs886049208 12:2800182-2800184 12:2691016-2691018
45 CACNA1C NM_000719.7(CACNA1C):c.202G>A (p.Ala68Thr) SNV Uncertain significance 190709 rs752000790 12:2224542-2224542 12:2115376-2115376
46 CACNA1C NM_000719.7(CACNA1C):c.*1652GAATT[1] Microsatellite Uncertain significance 308189 rs886049224 12:2802016-2802020 12:2692850-2692854
47 CACNA1C NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del) Microsatellite Uncertain significance 155776 rs575583988 12:2702396-2702398 12:2593224-2593226
48 CACNA1C NM_000719.7(CACNA1C):c.4289A>C (p.Lys1430Thr) SNV Uncertain significance 802810 rs759934820 12:2774047-2774047 12:2664881-2664881
49 CACNA1C-AS1 NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg) SNV Uncertain significance 191427 rs374528680 12:2795382-2795382 12:2686216-2686216
50 CACNA1C-AS1 NM_000719.7(CACNA1C):c.6040G>A (p.Val2014Ile) SNV Uncertain significance 67556 rs199473660 12:2797868-2797868 12:2688702-2688702

UniProtKB/Swiss-Prot genetic disease variations for Long Qt Syndrome 8:

73
# Symbol AA change Variation ID SNP ID
1 CACNA1C p.Ile1186Thr VAR_072381
2 CACNA1C p.Ala582Asp VAR_075156
3 CACNA1C p.Arg858His VAR_075158
4 CACNA1C p.Arg860Gly VAR_075159
5 CACNA1C p.Ile1186Val VAR_075160
6 CACNA1C p.Ile1523Met VAR_075162
7 CACNA1C p.Glu1544Lys VAR_075163
8 CACNA1C p.Pro857Leu VAR_082633
9 CACNA1C p.Pro857Arg VAR_082634

Expression for Long Qt Syndrome 8

Search GEO for disease gene expression data for Long Qt Syndrome 8.

Pathways for Long Qt Syndrome 8

GO Terms for Long Qt Syndrome 8

Sources for Long Qt Syndrome 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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