Long Qt Syndrome 10 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Cardiovascular diseases Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the circulatory system

Other forms of heart disease

Other conduction disorders

Other specified conduction disorders

External Ids:

Disease Ontology ¹² DOID:0110651

OMIM ⁵⁸ 611819

MeSH ⁴⁵ D001281 D008133

ICD10 ³⁴ I45.8

MedGen ⁴³ C2678484 CN196901

SNOMED-CT via HPO ⁷⁰ 111975006 233917008 263681008 more

UMLS ⁷⁴ C2678484

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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

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Related Diseases for Long Qt Syndrome 10

Diseases in the Long Qt Syndrome family:

Long Qt Syndrome 1	Long Qt Syndrome 3
Long Qt Syndrome 9	Long Qt Syndrome 10
Long Qt Syndrome 11	Long Qt Syndrome 12
Long Qt Syndrome 13	Long Qt Syndrome 2
Long Qt Syndrome 6	Long Qt Syndrome 5
Long Qt Syndrome 14	Long Qt Syndrome 15

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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

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Drugs & Therapeutics for Long Qt Syndrome 10

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

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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

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Anatomical Context for Long Qt Syndrome 10

MalaCards organs/tissues related to Long Qt Syndrome 10:

⁴²

Heart, Atrioventricular Node

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Publications for Long Qt Syndrome 10

Articles related to Long Qt Syndrome 10:

#	Title	Authors	Year
1	Mutations of the SCN4B-encoded sodium channel β4 subunit in familial atrial fibrillation. ( 23604097 )	Li RG...Yang YQ	2013
2	SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome. ( 17592081 )	Medeiros-Domingo A...Ackerman MJ	2007

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Genes for Long Qt Syndrome 10

Genes related to Long Qt Syndrome 10 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SCN4B	Sodium Voltage-Gated Channel Beta Subunit 4	Protein Coding	1328.59	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	17592081 20301308 23604097

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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.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.639C> T (p.Asn213=)	single nucleotide variant	Benign	rs72544155	GRCh38	Chromosome 11, 118137075: 118137075
4	SCN4B	NM_174934.3(SCN4B): c.639C> T (p.Asn213=)	single nucleotide variant	Benign	rs72544155	GRCh37	Chromosome 11, 118007790: 118007790
5	SCN4B	NM_174934.3(SCN4B): c.174C> T (p.Cys58=)	single nucleotide variant	Benign/Likely benign	rs45539032	GRCh38	Chromosome 11, 118145117: 118145117
6	SCN4B	NM_174934.3(SCN4B): c.174C> T (p.Cys58=)	single nucleotide variant	Benign/Likely benign	rs45539032	GRCh37	Chromosome 11, 118015832: 118015832
7	SCN4B	NM_174934.3(SCN4B): c.485T> G (p.Val162Gly)	single nucleotide variant	Pathogenic	rs587777559	GRCh38	Chromosome 11, 118141315: 118141315
8	SCN4B	NM_174934.3(SCN4B): c.485T> G (p.Val162Gly)	single nucleotide variant	Pathogenic	rs587777559	GRCh37	Chromosome 11, 118012030: 118012030
9	SCN4B	NM_174934.3(SCN4B): c.496A> C (p.Ile166Leu)	single nucleotide variant	Pathogenic	rs587777560	GRCh38	Chromosome 11, 118141304: 118141304
10	SCN4B	NM_174934.3(SCN4B): c.496A> C (p.Ile166Leu)	single nucleotide variant	Pathogenic	rs587777560	GRCh37	Chromosome 11, 118012019: 118012019
11	SCN4B	NM_174934.3(SCN4B): c.194A> T (p.His65Leu)	single nucleotide variant	Uncertain significance	rs112363898	GRCh38	Chromosome 11, 118145097: 118145097
12	SCN4B	NM_174934.3(SCN4B): c.194A> T (p.His65Leu)	single nucleotide variant	Uncertain significance	rs112363898	GRCh37	Chromosome 11, 118015812: 118015812
13	SCN4B	NM_174934.3(SCN4B): c.617C> T (p.Ser206Leu)	single nucleotide variant	Uncertain significance	rs140348243	GRCh38	Chromosome 11, 118137097: 118137097
14	SCN4B	NM_174934.3(SCN4B): c.617C> T (p.Ser206Leu)	single nucleotide variant	Uncertain significance	rs140348243	GRCh37	Chromosome 11, 118007812: 118007812
15	SCN4B	NM_174934.3(SCN4B): c.617C> T (p.Ser206Leu)	single nucleotide variant	Uncertain significance	rs140348243	NCBI36	Chromosome 11, 117513022: 117513022
16	SCN4B	NM_174934.3(SCN4B): c.112G> C (p.Ala38Pro)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs777894412	GRCh38	Chromosome 11, 118145179: 118145179
17	SCN4B	NM_174934.3(SCN4B): c.112G> C (p.Ala38Pro)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs777894412	GRCh37	Chromosome 11, 118015894: 118015894
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	GRCh37	Chromosome 11, 118012035: 118012035
23	SCN4B	NM_174934.3(SCN4B): c.480C> T (p.Asn160=)	single nucleotide variant	Benign	rs72546675	GRCh38	Chromosome 11, 118141320: 118141320
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	GRCh38	Chromosome 11, 118143920: 118143920
29	SCN4B	NM_174934.3(SCN4B): c.376A> G (p.Thr126Ala)	single nucleotide variant	Uncertain significance	rs1555097541	GRCh37	Chromosome 11, 118014635: 118014635
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

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Expression for Long Qt Syndrome 10

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

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Pathways for Long Qt Syndrome 10

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GO Terms for Long Qt Syndrome 10

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Long Qt Syndrome 10 (LQT10)

Aliases & Classifications for Long Qt Syndrome 10

MalaCards integrated aliases for Long Qt Syndrome 10:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Long Qt Syndrome 10

Related Diseases for Long Qt Syndrome 10

Diseases in the Long Qt Syndrome family:

Symptoms & Phenotypes for Long Qt Syndrome 10

Human phenotypes related to Long Qt Syndrome 10:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Long Qt Syndrome 10

Genetic Tests for Long Qt Syndrome 10

Genetic tests related to Long Qt Syndrome 10:

Anatomical Context for Long Qt Syndrome 10

MalaCards organs/tissues related to Long Qt Syndrome 10:

Publications for Long Qt Syndrome 10

Articles related to Long Qt Syndrome 10:

Genes for Long Qt Syndrome 10

Genes related to Long Qt Syndrome 10 (1 elite genes):

Variations for Long Qt Syndrome 10

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

ClinVar genetic disease variations for Long Qt Syndrome 10:

Expression for Long Qt Syndrome 10

Pathways for Long Qt Syndrome 10

GO Terms for Long Qt Syndrome 10

Sources for Long Qt Syndrome 10