LQT10
MCID: LNG045
MIFTS: 21

Long Qt Syndrome 10 (LQT10)

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

Aliases & Classifications for Long Qt Syndrome 10

MalaCards integrated aliases for Long Qt Syndrome 10:

Name: Long Qt Syndrome 10 58 12 54 76 30 6 74
Atrial Fibrillation, Familial, 17 58 76 30 6
Lqt10 58 12 54 76
Long Qt Syndrome-10 58 13
Qt Syndrome, Long, Type 10 41
Atfb17 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
risk of sudden death with exertion


HPO:

33
long qt syndrome 10:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110651
OMIM 58 611819
ICD10 34 I45.8
UMLS 74 C2678484

Summaries for Long Qt Syndrome 10

UniProtKB/Swiss-Prot : 76 Atrial fibrillation, familial, 17: A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. Long QT syndrome 10: 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.

MalaCards based summary : Long Qt Syndrome 10, is also known as atrial fibrillation, familial, 17. An important gene associated with Long Qt Syndrome 10 is SCN4B (Sodium Voltage-Gated Channel Beta Subunit 4). Affiliated tissues include heart and atrioventricular node, and related phenotypes are atrial fibrillation and sudden cardiac death

Disease Ontology : 12 A long QT syndrome that has material basis in dominant inheritance of mutation in the SCN4B gene on chromosome 11q23.3.

Description from OMIM: 611819

Related Diseases for Long Qt Syndrome 10

Symptoms & Phenotypes for Long Qt Syndrome 10

Human phenotypes related to Long Qt Syndrome 10:

33
# Description HPO Frequency HPO Source Accession
1 atrial fibrillation 33 occasional (7.5%) HP:0005110
2 sudden cardiac death 33 HP:0001645
3 atrioventricular block 33 HP:0001678
4 prolonged qt interval 33 HP:0001657
5 t-wave alternans 33 HP:0012266

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
atrial fibrillation (in some patients)
prolongation of corrected qt interval (in some patients)
long isoelectric st segment (in some patients)
late-onset t wave (in some patients)
atrioventricular node block, 2:1, intermittent (in some patients)

Clinical features from OMIM:

611819

Drugs & Therapeutics for Long Qt Syndrome 10

Search Clinical Trials , NIH Clinical Center for Long Qt Syndrome 10

Genetic Tests for Long Qt Syndrome 10

Genetic tests related to Long Qt Syndrome 10:

# Genetic test Affiliating Genes
1 Long Qt Syndrome 10 30 SCN4B
2 Atrial Fibrillation, Familial, 17 30

Anatomical Context for Long Qt Syndrome 10

MalaCards organs/tissues related to Long Qt Syndrome 10:

42
Heart, Atrioventricular Node

Publications for Long Qt Syndrome 10

Variations for Long Qt Syndrome 10

UniProtKB/Swiss-Prot genetic disease variations for Long Qt Syndrome 10:

76
# Symbol AA change Variation ID SNP ID
1 SCN4B p.Leu179Phe VAR_043488 rs121434386
2 SCN4B p.Val162Gly VAR_071317 rs587777559
3 SCN4B p.Ile166Leu VAR_071318 rs587777560

ClinVar genetic disease variations for Long Qt Syndrome 10:

6 (show all 35)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN4B NM_174934.3(SCN4B): c.194A> T (p.His65Leu) single nucleotide variant Uncertain significance rs112363898 GRCh38 Chromosome 11, 118145097: 118145097
2 SCN4B NM_174934.3(SCN4B): c.194A> T (p.His65Leu) single nucleotide variant Uncertain significance rs112363898 GRCh37 Chromosome 11, 118015812: 118015812
3 SCN4B NM_174934.3(SCN4B): c.617C> T (p.Ser206Leu) single nucleotide variant Uncertain significance rs140348243 GRCh38 Chromosome 11, 118137097: 118137097
4 SCN4B NM_174934.3(SCN4B): c.617C> T (p.Ser206Leu) single nucleotide variant Uncertain significance rs140348243 GRCh37 Chromosome 11, 118007812: 118007812
5 SCN4B NM_174934.3(SCN4B): c.617C> T (p.Ser206Leu) single nucleotide variant Uncertain significance rs140348243 NCBI36 Chromosome 11, 117513022: 117513022
6 SCN4B NM_174934.3(SCN4B): c.112G> C (p.Ala38Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs777894412 GRCh38 Chromosome 11, 118145179: 118145179
7 SCN4B NM_174934.3(SCN4B): c.112G> C (p.Ala38Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs777894412 GRCh37 Chromosome 11, 118015894: 118015894
8 SCN4B NM_174934.3(SCN4B): c.535C> T (p.Leu179Phe) single nucleotide variant Pathogenic rs121434386 GRCh37 Chromosome 11, 118011980: 118011980
9 SCN4B NM_174934.3(SCN4B): c.535C> T (p.Leu179Phe) single nucleotide variant Pathogenic rs121434386 GRCh38 Chromosome 11, 118141265: 118141265
10 SCN4B NM_174934.3(SCN4B): c.639C> T (p.Asn213=) single nucleotide variant Benign rs72544155 GRCh38 Chromosome 11, 118137075: 118137075
11 SCN4B NM_174934.3(SCN4B): c.639C> T (p.Asn213=) single nucleotide variant Benign rs72544155 GRCh37 Chromosome 11, 118007790: 118007790
12 SCN4B NM_174934.3(SCN4B): c.174C> T (p.Cys58=) single nucleotide variant Benign/Likely benign rs45539032 GRCh38 Chromosome 11, 118145117: 118145117
13 SCN4B NM_174934.3(SCN4B): c.174C> T (p.Cys58=) single nucleotide variant Benign/Likely benign rs45539032 GRCh37 Chromosome 11, 118015832: 118015832
14 SCN4B NM_174934.3(SCN4B): c.485T> G (p.Val162Gly) single nucleotide variant Pathogenic rs587777559 GRCh38 Chromosome 11, 118141315: 118141315
15 SCN4B NM_174934.3(SCN4B): c.485T> G (p.Val162Gly) single nucleotide variant Pathogenic rs587777559 GRCh37 Chromosome 11, 118012030: 118012030
16 SCN4B NM_174934.3(SCN4B): c.496A> C (p.Ile166Leu) single nucleotide variant Pathogenic rs587777560 GRCh38 Chromosome 11, 118141304: 118141304
17 SCN4B NM_174934.3(SCN4B): c.496A> C (p.Ile166Leu) single nucleotide variant Pathogenic rs587777560 GRCh37 Chromosome 11, 118012019: 118012019
18 SCN4B NM_174934.3(SCN4B): c.507C> T (p.Val169=) single nucleotide variant Likely benign rs759761004 GRCh38 Chromosome 11, 118141293: 118141293
19 SCN4B NM_174934.3(SCN4B): c.507C> T (p.Val169=) single nucleotide variant Likely benign rs759761004 GRCh37 Chromosome 11, 118012008: 118012008
20 SCN4B NM_174934.3(SCN4B): c.239T> C (p.Ile80Thr) single nucleotide variant Uncertain significance rs546190140 GRCh37 Chromosome 11, 118014772: 118014772
21 SCN4B NM_174934.3(SCN4B): c.239T> C (p.Ile80Thr) single nucleotide variant Uncertain significance rs546190140 GRCh38 Chromosome 11, 118144057: 118144057
22 SCN4B NM_174934.3(SCN4B): c.480C> T (p.Asn160=) single nucleotide variant Benign rs72546675 GRCh38 Chromosome 11, 118141320: 118141320
23 SCN4B NM_174934.3(SCN4B): c.480C> T (p.Asn160=) single nucleotide variant Benign rs72546675 GRCh37 Chromosome 11, 118012035: 118012035
24 SCN4B NM_174934.3(SCN4B): c.596A> G (p.Lys199Arg) single nucleotide variant Uncertain significance rs758628437 GRCh37 Chromosome 11, 118007833: 118007833
25 SCN4B NM_174934.3(SCN4B): c.596A> G (p.Lys199Arg) single nucleotide variant Uncertain significance rs758628437 GRCh38 Chromosome 11, 118137118: 118137118
26 SCN4B NM_174934.3(SCN4B): c.544C> G (p.Leu182Val) single nucleotide variant Uncertain significance rs771565684 GRCh37 Chromosome 11, 118011971: 118011971
27 SCN4B NM_174934.3(SCN4B): c.544C> G (p.Leu182Val) single nucleotide variant Uncertain significance rs771565684 GRCh38 Chromosome 11, 118141256: 118141256
28 SCN4B NM_174934.3(SCN4B): c.376A> G (p.Thr126Ala) single nucleotide variant Uncertain significance rs1555097541 GRCh37 Chromosome 11, 118014635: 118014635
29 SCN4B NM_174934.3(SCN4B): c.376A> G (p.Thr126Ala) single nucleotide variant Uncertain significance rs1555097541 GRCh38 Chromosome 11, 118143920: 118143920
30 SCN4B NM_174934.3(SCN4B): c.568A> C (p.Ile190Leu) single nucleotide variant Uncertain significance rs757147726 GRCh37 Chromosome 11, 118011947: 118011947
31 SCN4B NM_174934.3(SCN4B): c.568A> C (p.Ile190Leu) single nucleotide variant Uncertain significance rs757147726 GRCh38 Chromosome 11, 118141232: 118141232
32 SCN4B NM_174934.3(SCN4B): c.613T> C (p.Ser205Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 118007816: 118007816
33 SCN4B NM_174934.3(SCN4B): c.613T> C (p.Ser205Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 118137101: 118137101
34 SCN4B NM_174934.3(SCN4B): c.520A> G (p.Ile174Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 118141280: 118141280
35 SCN4B NM_174934.3(SCN4B): c.520A> G (p.Ile174Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 118011995: 118011995

Expression for Long Qt Syndrome 10

Search GEO for disease gene expression data for Long Qt Syndrome 10.

Pathways for Long Qt Syndrome 10

GO Terms for Long Qt Syndrome 10

Sources for Long Qt Syndrome 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
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63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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75 UMLS via Orphanet
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