LQT11
MCID: LNG046
MIFTS: 18

Long Qt Syndrome 11 (LQT11)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare 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 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)

Related Diseases for Long Qt Syndrome 11

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

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 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

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
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37 KEGG
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44 MeSH
45 MESH via Orphanet
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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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