MCID: LNG045
MIFTS: 21

Long Qt Syndrome 10

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Long Qt Syndrome 10

MalaCards integrated aliases for Long Qt Syndrome 10:

Name: Long Qt Syndrome 10 57 12 53 75 29 6 73
Atrial Fibrillation, Familial, 17 57 75 29 6
Lqt10 57 12 53 75
Long Qt Syndrome-10 57 13
Qt Syndrome, Long, Type 10 40
Atfb17 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
risk of sudden death with exertion


HPO:

32
long qt syndrome 10:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 611819
Disease Ontology 12 DOID:0110651
ICD10 33 I45.8
UMLS 73 C2678484

Summaries for Long Qt Syndrome 10

UniProtKB/Swiss-Prot : 75 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 sudden cardiac death and prolonged qt interval

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

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
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)
atrial fibrillation (in some patients)


Clinical features from OMIM:

611819

Human phenotypes related to Long Qt Syndrome 10:

32
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 32 HP:0001645
2 prolonged qt interval 32 HP:0001657
3 atrioventricular block 32 HP:0001678
4 atrial fibrillation 32 occasional (7.5%) HP:0005110
5 t-wave alternans 32 HP:0012266

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 29 SCN4B
2 Atrial Fibrillation, Familial, 17 29

Anatomical Context for Long Qt Syndrome 10

MalaCards organs/tissues related to Long Qt Syndrome 10:

41
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:

75
# 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 27)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN4B NM_174934.3(SCN4B): c.535C> T (p.Leu179Phe) single nucleotide variant Pathogenic rs121434386 GRCh37 Chromosome 11, 118011980: 118011980
2 SCN4B NM_174934.3(SCN4B): c.535C> T (p.Leu179Phe) single nucleotide variant Pathogenic rs121434386 GRCh38 Chromosome 11, 118141265: 118141265
3 SCN4B NM_174934.3(SCN4B): c.485T> G (p.Val162Gly) single nucleotide variant Pathogenic rs587777559 GRCh38 Chromosome 11, 118141315: 118141315
4 SCN4B NM_174934.3(SCN4B): c.485T> G (p.Val162Gly) single nucleotide variant Pathogenic rs587777559 GRCh37 Chromosome 11, 118012030: 118012030
5 SCN4B NM_174934.3(SCN4B): c.496A> C (p.Ile166Leu) single nucleotide variant Pathogenic rs587777560 GRCh38 Chromosome 11, 118141304: 118141304
6 SCN4B NM_174934.3(SCN4B): c.496A> C (p.Ile166Leu) single nucleotide variant Pathogenic rs587777560 GRCh37 Chromosome 11, 118012019: 118012019
7 SCN4B NM_174934.3(SCN4B): c.194A> T (p.His65Leu) single nucleotide variant Uncertain significance rs112363898 GRCh38 Chromosome 11, 118145097: 118145097
8 SCN4B NM_174934.3(SCN4B): c.194A> T (p.His65Leu) single nucleotide variant Uncertain significance rs112363898 GRCh37 Chromosome 11, 118015812: 118015812
9 SCN4B NM_174934.3(SCN4B): c.617C> T (p.Ser206Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs140348243 GRCh38 Chromosome 11, 118137097: 118137097
10 SCN4B NM_174934.3(SCN4B): c.617C> T (p.Ser206Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs140348243 GRCh37 Chromosome 11, 118007812: 118007812
11 SCN4B NM_174934.3(SCN4B): c.617C> T (p.Ser206Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs140348243 NCBI36 Chromosome 11, 117513022: 117513022
12 SCN4B NM_174934.3(SCN4B): c.112G> C (p.Ala38Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs777894412 GRCh38 Chromosome 11, 118145179: 118145179
13 SCN4B NM_174934.3(SCN4B): c.112G> C (p.Ala38Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs777894412 GRCh37 Chromosome 11, 118015894: 118015894
14 SCN4B NM_174934.3(SCN4B): c.507C> T (p.Val169=) single nucleotide variant Likely benign rs759761004 GRCh38 Chromosome 11, 118141293: 118141293
15 SCN4B NM_174934.3(SCN4B): c.507C> T (p.Val169=) single nucleotide variant Likely benign rs759761004 GRCh37 Chromosome 11, 118012008: 118012008
16 SCN4B NM_174934.3(SCN4B): c.239T> C (p.Ile80Thr) single nucleotide variant Uncertain significance rs546190140 GRCh37 Chromosome 11, 118014772: 118014772
17 SCN4B NM_174934.3(SCN4B): c.239T> C (p.Ile80Thr) single nucleotide variant Uncertain significance rs546190140 GRCh38 Chromosome 11, 118144057: 118144057
18 SCN4B NM_174934.3(SCN4B): c.480C> T (p.Asn160=) single nucleotide variant Benign rs72546675 GRCh37 Chromosome 11, 118012035: 118012035
19 SCN4B NM_174934.3(SCN4B): c.480C> T (p.Asn160=) single nucleotide variant Benign rs72546675 GRCh38 Chromosome 11, 118141320: 118141320
20 SCN4B NM_174934.3(SCN4B): c.596A> G (p.Lys199Arg) single nucleotide variant Uncertain significance rs758628437 GRCh37 Chromosome 11, 118007833: 118007833
21 SCN4B NM_174934.3(SCN4B): c.596A> G (p.Lys199Arg) single nucleotide variant Uncertain significance rs758628437 GRCh38 Chromosome 11, 118137118: 118137118
22 SCN4B NM_174934.3(SCN4B): c.544C> G (p.Leu182Val) single nucleotide variant Uncertain significance rs771565684 GRCh37 Chromosome 11, 118011971: 118011971
23 SCN4B NM_174934.3(SCN4B): c.544C> G (p.Leu182Val) single nucleotide variant Uncertain significance rs771565684 GRCh38 Chromosome 11, 118141256: 118141256
24 SCN4B NM_174934.3(SCN4B): c.376A> G (p.Thr126Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 118143920: 118143920
25 SCN4B NM_174934.3(SCN4B): c.376A> G (p.Thr126Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 118014635: 118014635
26 SCN4B NM_174934.3(SCN4B): c.568A> C (p.Ile190Leu) single nucleotide variant Uncertain significance rs757147726 GRCh38 Chromosome 11, 118141232: 118141232
27 SCN4B NM_174934.3(SCN4B): c.568A> C (p.Ile190Leu) single nucleotide variant Uncertain significance rs757147726 GRCh37 Chromosome 11, 118011947: 118011947

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

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