MCID: LNG046
MIFTS: 17

Long Qt Syndrome 11

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

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:



External Ids:

OMIM 57 611820
Disease Ontology 12 DOID:0110652
ICD10 33 I45.8
MedGen 42 C2678483
MeSH 44 D008133
UMLS 73 C2678483

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)

Related Diseases for Long Qt Syndrome 11

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

Drugs & Therapeutics for Long Qt Syndrome 11

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

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

Anatomical Context for Long Qt Syndrome 11

MalaCards organs/tissues related to Long Qt Syndrome 11:

41
Heart

Publications for Long Qt Syndrome 11

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

Expression for Long Qt Syndrome 11

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

Pathways for Long Qt Syndrome 11

GO Terms for Long Qt Syndrome 11

Sources for Long Qt Syndrome 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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