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

Sources

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

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

Sources

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

Sources

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

Sources

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

Sources

Drugs & Therapeutics for Long Qt Syndrome 10

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

Sources

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

Sources

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 ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	17592081 20301308

Sources

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

Sources

Expression for Long Qt Syndrome 10

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

Sources

Pathways for Long Qt Syndrome 10

Sources

GO Terms for Long Qt Syndrome 10

Sources

Sources for Long Qt Syndrome 10

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

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

⁴⁹ NCI

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

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

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