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 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:

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

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the circulatory system

Other forms of heart disease

Other conduction disorders

Other specified conduction disorders

External Ids:

OMIM ⁵⁷ 611819

Disease Ontology ¹² DOID:0110651

ICD10 ³³ I45.8

MedGen ⁴² C2678484 CN196901

MeSH ⁴⁴ D001281 D008133

SNOMED-CT via HPO ⁶⁹ 263681008 95281009 111975006 more

UMLS ⁷³ C2678484

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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 atrioventricular block

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

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Human phenotypes related to Long Qt Syndrome 10:

³²

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

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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 ²⁹	SCN4B
2	Atrial Fibrillation, Familial, 17 ²⁹

Sources

Anatomical Context for Long Qt Syndrome 10

MalaCards organs/tissues related to Long Qt Syndrome 10:

⁴¹

Heart, Atrioventricular Node

Sources

Publications for Long Qt Syndrome 10

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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	1328.54	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ 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:

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 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		GRCh37	Chromosome 11, 118014635: 118014635
29	SCN4B	NM_174934.3(SCN4B): c.376A> G (p.Thr126Ala)	single nucleotide variant	Uncertain significance		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	rs761183228	GRCh37	Chromosome 11, 118007816: 118007816
33	SCN4B	NM_174934.3(SCN4B): c.613T> C (p.Ser205Pro)	single nucleotide variant	Uncertain significance	rs761183228	GRCh38	Chromosome 11, 118137101: 118137101
34	SCN4B	NM_174934.3(SCN4B): c.520A> G (p.Ile174Val)	single nucleotide variant	Uncertain significance	rs377730779	GRCh38	Chromosome 11, 118141280: 118141280
35	SCN4B	NM_174934.3(SCN4B): c.520A> G (p.Ile174Val)	single nucleotide variant	Uncertain significance	rs377730779	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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Sources for Long Qt Syndrome 10

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

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⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

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¹⁶ DrugBank

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¹⁹ FMA

²⁰ GeneAnalytics

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²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

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⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

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⁶⁶ Reactome

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⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

LQT10 MCID: LNG045 MIFTS: 21	Long Qt Syndrome 10 (LQT10) Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Symptoms & Phenotypes Expand all tables

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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Long Qt Syndrome 10:

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

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