Long Qt Syndrome 11 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

LQT11 MCID: LNG046 MIFTS: 18	Long Qt Syndrome 11 (LQT11) Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Long Qt Syndrome 11

MalaCards integrated aliases for Long Qt Syndrome 11:

Name: Long Qt Syndrome 11 ⁵⁷ ¹² ⁵³ ⁷⁵ ²⁹ ⁶ ⁷³

Lqt11 ⁵⁷ ¹² ⁵³ ⁷⁵

Long Qt Syndrome-11 ⁵⁷ ¹³

Qt Syndrome, Long, Type 11 ⁴⁰

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
based on report of 1 family (last curated april 2017)

HPO:

³²

long qt syndrome 11:
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 611820

Disease Ontology ¹² DOID:0110652

ICD10 ³³ I45.8

MedGen ⁴² C2678483

MeSH ⁴⁴ D008133

SNOMED-CT via HPO ⁶⁹ 263681008 271594007 272030005 more

UMLS ⁷³ C2678483

Sources

Summaries for Long Qt Syndrome 11

UniProtKB/Swiss-Prot : ⁷⁵ Long QT syndrome 11: 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 11, is also known as lqt11, and has symptoms including syncope An important gene associated with Long Qt Syndrome 11 is AKAP9 (A-Kinase Anchoring Protein 9). Affiliated tissues include heart, and related phenotypes are prolonged qt interval and syncope

Disease Ontology : ¹² A long QT syndrome that has material basis in dominant inheritance of mutation in the AKAP9 gene on chromosome 7q21.2.

OMIM : ⁵⁷ Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (Jongbloed et al., 1999). (611820)

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Related Diseases for Long Qt Syndrome 11

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 11

Symptoms via clinical synopsis from OMIM:

⁵⁷

Cardiovascular Heart:
syncope
prolongation of corrected qt interval

Clinical features from OMIM:

611820

Human phenotypes related to Long Qt Syndrome 11:

³²

#	Description	HPO Frequency	HPO Source Accession
1	prolonged qt interval ³²		HP:0001657
2	syncope ³²		HP:0001279

UMLS symptoms related to Long Qt Syndrome 11:

syncope

Sources

Drugs & Therapeutics for Long Qt Syndrome 11

Search Clinical Trials , NIH Clinical Center for Long Qt Syndrome 11

Sources

Genetic Tests for Long Qt Syndrome 11

Genetic tests related to Long Qt Syndrome 11:

#	Genetic test	Affiliating Genes
1	Long Qt Syndrome 11 ²⁹	AKAP9

Sources

Anatomical Context for Long Qt Syndrome 11

MalaCards organs/tissues related to Long Qt Syndrome 11:

⁴¹

Heart

Sources

Publications for Long Qt Syndrome 11

Sources

Genes for Long Qt Syndrome 11

Genes related to Long Qt Syndrome 11 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	AKAP9	A-Kinase Anchoring Protein 9	Protein Coding	979.19	Molecular basis known ⁵⁷ Causative variation ⁷⁵ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ GeneCards inferred via : Disorders Variants (show sections)

Sources

Variations for Long Qt Syndrome 11

UniProtKB/Swiss-Prot genetic disease variations for Long Qt Syndrome 11:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	AKAP9	p.Ser1570Leu	VAR_043489	rs121908566

ClinVar genetic disease variations for Long Qt Syndrome 11:

⁶ (show top 50) (show all 62)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	AKAP9	NM_005751.4(AKAP9): c.4709C> T (p.Ser1570Leu)	single nucleotide variant	Uncertain significance	rs121908566	GRCh37	Chromosome 7, 91670004: 91670004
2	AKAP9	NM_005751.4(AKAP9): c.4709C> T (p.Ser1570Leu)	single nucleotide variant	Uncertain significance	rs121908566	GRCh38	Chromosome 7, 92040690: 92040690
3	AKAP9	NM_005751.4(AKAP9): c.5163-20G> A	single nucleotide variant	Benign	rs9785013	GRCh37	Chromosome 7, 91674302: 91674302
4	AKAP9	NM_005751.4(AKAP9): c.5163-20G> A	single nucleotide variant	Benign	rs9785013	GRCh38	Chromosome 7, 92044988: 92044988
5	AKAP9	NM_005751.4(AKAP9): c.5246T> C (p.Ile1749Thr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs150016098	GRCh37	Chromosome 7, 91674405: 91674405
6	AKAP9	NM_005751.4(AKAP9): c.5246T> C (p.Ile1749Thr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs150016098	GRCh38	Chromosome 7, 92045091: 92045091
7	AKAP9	NM_005751.4(AKAP9): c.5778C> T (p.Gly1926=)	single nucleotide variant	Benign/Likely benign	rs10236397	GRCh37	Chromosome 7, 91691601: 91691601
8	AKAP9	NM_005751.4(AKAP9): c.5778C> T (p.Gly1926=)	single nucleotide variant	Benign/Likely benign	rs10236397	GRCh38	Chromosome 7, 92062287: 92062287
9	AKAP9	NM_005751.4(AKAP9): c.6945+8C> T	single nucleotide variant	Benign/Likely benign	rs733957	GRCh37	Chromosome 7, 91707197: 91707197
10	AKAP9	NM_005751.4(AKAP9): c.6945+8C> T	single nucleotide variant	Benign/Likely benign	rs733957	GRCh38	Chromosome 7, 92077883: 92077883
11	AKAP9	NM_005751.4(AKAP9): c.8375A> G (p.Asn2792Ser)	single nucleotide variant	Benign/Likely benign	rs6960867	GRCh37	Chromosome 7, 91712698: 91712698
12	AKAP9	NM_005751.4(AKAP9): c.8375A> G (p.Asn2792Ser)	single nucleotide variant	Benign/Likely benign	rs6960867	GRCh38	Chromosome 7, 92083384: 92083384
13	AKAP9	NM_005751.4(AKAP9): c.8665C> T (p.Leu2889=)	single nucleotide variant	Benign/Likely benign	rs10228334	GRCh37	Chromosome 7, 91713972: 91713972
14	AKAP9	NM_005751.4(AKAP9): c.8665C> T (p.Leu2889=)	single nucleotide variant	Benign/Likely benign	rs10228334	GRCh38	Chromosome 7, 92084658: 92084658
15	AKAP9	NM_005751.4(AKAP9): c.8935C> T (p.Pro2979Ser)	single nucleotide variant	Benign/Likely benign	rs1063242	GRCh37	Chromosome 7, 91714911: 91714911
16	AKAP9	NM_005751.4(AKAP9): c.8935C> T (p.Pro2979Ser)	single nucleotide variant	Benign/Likely benign	rs1063242	GRCh38	Chromosome 7, 92085597: 92085597
17	AKAP9	NM_005751.4(AKAP9): c.9145C> T (p.Leu3049=)	single nucleotide variant	Benign/Likely benign	rs28927678	GRCh37	Chromosome 7, 91715662: 91715662
18	AKAP9	NM_005751.4(AKAP9): c.9145C> T (p.Leu3049=)	single nucleotide variant	Benign/Likely benign	rs28927678	GRCh38	Chromosome 7, 92086348: 92086348
19	AKAP9	NM_005751.4(AKAP9): c.10426A> C (p.Arg3476=)	single nucleotide variant	Benign/Likely benign	rs1063243	GRCh37	Chromosome 7, 91726927: 91726927
20	AKAP9	NM_005751.4(AKAP9): c.10426A> C (p.Arg3476=)	single nucleotide variant	Benign/Likely benign	rs1063243	GRCh38	Chromosome 7, 92097613: 92097613
21	AKAP9	NM_005751.4(AKAP9): c.10840A> G (p.Met3614Val)	single nucleotide variant	Benign/Likely benign	rs34327395	GRCh37	Chromosome 7, 91729127: 91729127
22	AKAP9	NM_005751.4(AKAP9): c.10840A> G (p.Met3614Val)	single nucleotide variant	Benign/Likely benign	rs34327395	GRCh38	Chromosome 7, 92099813: 92099813
23	AKAP9	NM_005751.4(AKAP9): c.80C> T (p.Ser27Leu)	single nucleotide variant	Benign/Likely benign	rs142401936	GRCh37	Chromosome 7, 91603056: 91603056
24	AKAP9	NM_005751.4(AKAP9): c.80C> T (p.Ser27Leu)	single nucleotide variant	Benign/Likely benign	rs142401936	GRCh38	Chromosome 7, 91973742: 91973742
25	AKAP9	NM_005751.4(AKAP9): c.1389G> T (p.Met463Ile)	single nucleotide variant	Benign/Likely benign	rs6964587	GRCh37	Chromosome 7, 91630620: 91630620
26	AKAP9	NM_005751.4(AKAP9): c.1389G> T (p.Met463Ile)	single nucleotide variant	Benign/Likely benign	rs6964587	GRCh38	Chromosome 7, 92001306: 92001306
27	AKAP9	NM_005751.4(AKAP9): c.3075C> T (p.Thr1025=)	single nucleotide variant	Benign/Likely benign	rs1989779	GRCh37	Chromosome 7, 91632306: 91632306
28	AKAP9	NM_005751.4(AKAP9): c.3075C> T (p.Thr1025=)	single nucleotide variant	Benign/Likely benign	rs1989779	GRCh38	Chromosome 7, 92002992: 92002992
29	AKAP9	NM_005751.4(AKAP9): c.3504A> G (p.Glu1168=)	single nucleotide variant	Benign/Likely benign	rs13245393	GRCh37	Chromosome 7, 91641928: 91641928
30	AKAP9	NM_005751.4(AKAP9): c.3504A> G (p.Glu1168=)	single nucleotide variant	Benign/Likely benign	rs13245393	GRCh38	Chromosome 7, 92012614: 92012614
31	AKAP9	NM_005751.4(AKAP9): c.1489G> T (p.Glu497Ter)	single nucleotide variant	Likely pathogenic	rs730880043	GRCh37	Chromosome 7, 91630720: 91630720
32	AKAP9	NM_005751.4(AKAP9): c.1489G> T (p.Glu497Ter)	single nucleotide variant	Likely pathogenic	rs730880043	GRCh38	Chromosome 7, 92001406: 92001406
33	AKAP9	NM_005751.4(AKAP9): c.3580G> A (p.Ala1194Thr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs139965373	GRCh37	Chromosome 7, 91643610: 91643610
34	AKAP9	NM_005751.4(AKAP9): c.3580G> A (p.Ala1194Thr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs139965373	GRCh38	Chromosome 7, 92014296: 92014296
35	AKAP9	NM_005751.4(AKAP9): c.510G> C (p.Glu170Asp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs144888041	GRCh37	Chromosome 7, 91622303: 91622303
36	AKAP9	NM_005751.4(AKAP9): c.510G> C (p.Glu170Asp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs144888041	GRCh38	Chromosome 7, 91992989: 91992989
37	AKAP9	NM_005751.4(AKAP9): c.610G> A (p.Asp204Asn)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs148920964	GRCh38	Chromosome 7, 91994654: 91994654
38	AKAP9	NM_005751.4(AKAP9): c.610G> A (p.Asp204Asn)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs148920964	GRCh37	Chromosome 7, 91623968: 91623968
39	AKAP9	NM_005751.4(AKAP9): c.10118C> A (p.Ser3373Tyr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs140470576	GRCh38	Chromosome 7, 92097077: 92097077
40	AKAP9	NM_005751.4(AKAP9): c.10118C> A (p.Ser3373Tyr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs140470576	GRCh37	Chromosome 7, 91726391: 91726391
41	AKAP9	NM_005751.4(AKAP9): c.10664A> T (p.Asp3555Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs139046510	GRCh38	Chromosome 7, 92098165: 92098165
42	AKAP9	NM_005751.4(AKAP9): c.10664A> T (p.Asp3555Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs139046510	GRCh37	Chromosome 7, 91727479: 91727479
43	AKAP9	NM_005751.4(AKAP9): c.139C> T (p.His47Tyr)	single nucleotide variant	Benign/Likely benign	rs35669569	GRCh37	Chromosome 7, 91603115: 91603115
44	AKAP9	NM_005751.4(AKAP9): c.139C> T (p.His47Tyr)	single nucleotide variant	Benign/Likely benign	rs35669569	GRCh38	Chromosome 7, 91973801: 91973801
45	AKAP9	NM_005751.4(AKAP9): c.6556T> C (p.Ser2186Pro)	single nucleotide variant	Benign/Likely benign	rs76177450	GRCh38	Chromosome 7, 92070953: 92070953
46	AKAP9	NM_005751.4(AKAP9): c.6556T> C (p.Ser2186Pro)	single nucleotide variant	Benign/Likely benign	rs76177450	GRCh37	Chromosome 7, 91700267: 91700267
47	AKAP9	NM_005751.4(AKAP9): c.8286A> C (p.Lys2762Asn)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs144875383	GRCh37	Chromosome 7, 91712609: 91712609
48	AKAP9	NM_005751.4(AKAP9): c.8286A> C (p.Lys2762Asn)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs144875383	GRCh38	Chromosome 7, 92083295: 92083295
49	AKAP9	NM_005751.4(AKAP9): c.10459G> A (p.Glu3487Lys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs61757664	GRCh38	Chromosome 7, 92097646: 92097646
50	AKAP9	NM_005751.4(AKAP9): c.10459G> A (p.Glu3487Lys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs61757664	GRCh37	Chromosome 7, 91726960: 91726960

Sources

Expression for Long Qt Syndrome 11

Search GEO for disease gene expression data for Long Qt Syndrome 11.

Sources

Pathways for Long Qt Syndrome 11

Sources

GO Terms for Long Qt Syndrome 11

Sources

Sources for Long Qt Syndrome 11

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

Long Qt Syndrome 11 (LQT11)

Aliases & Classifications for Long Qt Syndrome 11

MalaCards integrated aliases for Long Qt Syndrome 11:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Long Qt Syndrome 11

Related Diseases for Long Qt Syndrome 11

Diseases in the Long Qt Syndrome family:

Symptoms & Phenotypes for Long Qt Syndrome 11

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Long Qt Syndrome 11:

UMLS symptoms related to Long Qt Syndrome 11:

Drugs & Therapeutics for Long Qt Syndrome 11

Genetic Tests for Long Qt Syndrome 11

Genetic tests related to Long Qt Syndrome 11:

Anatomical Context for Long Qt Syndrome 11

MalaCards organs/tissues related to Long Qt Syndrome 11:

Publications for Long Qt Syndrome 11

Genes for Long Qt Syndrome 11

Genes related to Long Qt Syndrome 11 (1 elite genes):

Variations for Long Qt Syndrome 11

UniProtKB/Swiss-Prot genetic disease variations for Long Qt Syndrome 11:

ClinVar genetic disease variations for Long Qt Syndrome 11:

Expression for Long Qt Syndrome 11

Pathways for Long Qt Syndrome 11

GO Terms for Long Qt Syndrome 11

Sources for Long Qt Syndrome 11