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

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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

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

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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 syncope and prolonged qt interval

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

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Symptoms & Phenotypes for Long Qt Syndrome 11

Symptoms via clinical synopsis from OMIM:

⁵⁷

Cardiovascular Heart:
prolongation of corrected qt interval
syncope

Clinical features from OMIM:

611820

Human phenotypes related to Long Qt Syndrome 11:

³²

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

UMLS symptoms related to Long Qt Syndrome 11:

syncope

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Drugs & Therapeutics for Long Qt Syndrome 11

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

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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

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Anatomical Context for Long Qt Syndrome 11

MalaCards organs/tissues related to Long Qt Syndrome 11:

⁴¹

Heart

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Publications for Long Qt Syndrome 11

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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	978.42	Molecular basis known ⁵⁷ Causative variation ⁷⁵ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ GeneCards inferred via : Disorders Variants (show sections)

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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 all 32)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	AKAP9	NM_005751.4(AKAP9): c.1489G> T (p.Glu497Ter)	single nucleotide variant	Likely pathogenic	rs730880043	GRCh37	Chromosome 7, 91630720: 91630720
2	AKAP9	NM_005751.4(AKAP9): c.1489G> T (p.Glu497Ter)	single nucleotide variant	Likely pathogenic	rs730880043	GRCh38	Chromosome 7, 92001406: 92001406
3	AKAP9	NM_005751.4(AKAP9): c.3580G> A (p.Ala1194Thr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs139965373	GRCh37	Chromosome 7, 91643610: 91643610
4	AKAP9	NM_005751.4(AKAP9): c.3580G> A (p.Ala1194Thr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs139965373	GRCh38	Chromosome 7, 92014296: 92014296
5	AKAP9	NM_005751.4(AKAP9): c.510G> C (p.Glu170Asp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs144888041	GRCh37	Chromosome 7, 91622303: 91622303
6	AKAP9	NM_005751.4(AKAP9): c.510G> C (p.Glu170Asp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs144888041	GRCh38	Chromosome 7, 91992989: 91992989
7	AKAP9	NM_005751.4(AKAP9): c.610G> A (p.Asp204Asn)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs148920964	GRCh38	Chromosome 7, 91994654: 91994654
8	AKAP9	NM_005751.4(AKAP9): c.610G> A (p.Asp204Asn)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs148920964	GRCh37	Chromosome 7, 91623968: 91623968
9	AKAP9	NM_005751.4(AKAP9): c.10118C> A (p.Ser3373Tyr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs140470576	GRCh38	Chromosome 7, 92097077: 92097077
10	AKAP9	NM_005751.4(AKAP9): c.10118C> A (p.Ser3373Tyr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs140470576	GRCh37	Chromosome 7, 91726391: 91726391
11	AKAP9	NM_005751.4(AKAP9): c.10664A> T (p.Asp3555Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs139046510	GRCh38	Chromosome 7, 92098165: 92098165
12	AKAP9	NM_005751.4(AKAP9): c.10664A> T (p.Asp3555Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs139046510	GRCh37	Chromosome 7, 91727479: 91727479
13	AKAP9	NM_005751.4(AKAP9): c.139C> T (p.His47Tyr)	single nucleotide variant	Benign/Likely benign	rs35669569	GRCh37	Chromosome 7, 91603115: 91603115
14	AKAP9	NM_005751.4(AKAP9): c.139C> T (p.His47Tyr)	single nucleotide variant	Benign/Likely benign	rs35669569	GRCh38	Chromosome 7, 91973801: 91973801
15	AKAP9	NM_005751.4(AKAP9): c.6556T> C (p.Ser2186Pro)	single nucleotide variant	Benign/Likely benign	rs76177450	GRCh38	Chromosome 7, 92070953: 92070953
16	AKAP9	NM_005751.4(AKAP9): c.6556T> C (p.Ser2186Pro)	single nucleotide variant	Benign/Likely benign	rs76177450	GRCh37	Chromosome 7, 91700267: 91700267
17	AKAP9	NM_005751.4(AKAP9): c.8286A> C (p.Lys2762Asn)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs144875383	GRCh37	Chromosome 7, 91712609: 91712609
18	AKAP9	NM_005751.4(AKAP9): c.8286A> C (p.Lys2762Asn)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs144875383	GRCh38	Chromosome 7, 92083295: 92083295
19	AKAP9	NM_005751.4(AKAP9): c.10459G> A (p.Glu3487Lys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs61757664	GRCh38	Chromosome 7, 92097646: 92097646
20	AKAP9	NM_005751.4(AKAP9): c.10459G> A (p.Glu3487Lys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs61757664	GRCh37	Chromosome 7, 91726960: 91726960
21	AKAP9	NM_005751.4(AKAP9): c.10767G> A (p.Leu3589=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs56198613	GRCh37	Chromosome 7, 91729054: 91729054
22	AKAP9	NM_005751.4(AKAP9): c.10767G> A (p.Leu3589=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs56198613	GRCh38	Chromosome 7, 92099740: 92099740
23	AKAP9	NM_005751.4(AKAP9): c.5978-4A> G	single nucleotide variant	Conflicting interpretations of pathogenicity	rs147494754	GRCh37	Chromosome 7, 91694541: 91694541
24	AKAP9	NM_005751.4(AKAP9): c.5978-4A> G	single nucleotide variant	Conflicting interpretations of pathogenicity	rs147494754	GRCh38	Chromosome 7, 92065227: 92065227
25	AKAP9	NM_005751.4(AKAP9): c.8485G> A (p.Glu2829Lys)	single nucleotide variant	Benign/Likely benign	rs149946443	GRCh37	Chromosome 7, 91712808: 91712808
26	AKAP9	NM_005751.4(AKAP9): c.8485G> A (p.Glu2829Lys)	single nucleotide variant	Benign/Likely benign	rs149946443	GRCh38	Chromosome 7, 92083494: 92083494
27	AKAP9	NM_005751.4(AKAP9): c.4189C> G (p.Gln1397Glu)	single nucleotide variant	Uncertain significance	rs749340561	GRCh37	Chromosome 7, 91659249: 91659249
28	AKAP9	NM_005751.4(AKAP9): c.4189C> G (p.Gln1397Glu)	single nucleotide variant	Uncertain significance	rs749340561	GRCh38	Chromosome 7, 92029935: 92029935
29	AKAP9	NM_005751.4(AKAP9): c.2284A> G (p.Lys762Glu)	single nucleotide variant	Uncertain significance	rs776287498	GRCh37	Chromosome 7, 91631515: 91631515
30	AKAP9	NM_005751.4(AKAP9): c.2284A> G (p.Lys762Glu)	single nucleotide variant	Uncertain significance	rs776287498	GRCh38	Chromosome 7, 92002201: 92002201
31	AKAP9	NM_005751.4(AKAP9): c.5565A> G (p.Glu1855=)	single nucleotide variant	Likely benign	rs141094356	GRCh38	Chromosome 7, 92052922: 92052922
32	AKAP9	NM_005751.4(AKAP9): c.5565A> G (p.Glu1855=)	single nucleotide variant	Likely benign	rs141094356	GRCh37	Chromosome 7, 91682236: 91682236

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Expression for Long Qt Syndrome 11

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

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Pathways for Long Qt Syndrome 11

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GO Terms for Long Qt Syndrome 11

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Sources for Long Qt Syndrome 11

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

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¹⁰ dbSNP

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²⁰ GeneAnalytics

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²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

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³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

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³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

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⁴⁴ MeSH

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⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

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⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

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⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia