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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Long QT Syndrome (D008133)
..Starting node ..Long Qt Syndrome 5 (C566766)
Child Nodes:
Sister Nodes:
..Andersen Syndrome (D050030)
..Jervell-Lange Nielsen Syndrome (D029593) 1
..Long Qt Syndrome 10 (C567514)
..Long Qt Syndrome 11 (C567513)
..Long Qt Syndrome 12 (C567842)
..LONG QT SYNDROME 13 (OMIM:613485)
..Long Qt Syndrome 2 (C563614)
..Long Qt Syndrome 2/3 (C565841)
..Long Qt Syndrome 2/5 (C566765)
..Long Qt Syndrome 3 (C565840)
..Long Qt Syndrome 3/6 (C566334)
..Long Qt Syndrome 4 (C563428)
..Long Qt Syndrome 5 (C566766)
..Long Qt Syndrome 6 (C566333)
..Long Qt Syndrome 9 (C567515)
..Long QT syndrome type 3 (C537034)
..Romano-Ward Syndrome (D029597) 1
..Timothy syndrome (C536962)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6534

Name:

Long Qt Syndrome 5

Definition:

Alternative IDs:

OMIM:613695

ParentIDs:

MESH:D008133

TreeNumbers:

C14.280.067.565/C566766 |C16.131.240.400.715/C566766 |C23.550.073.547/C566766

Synonyms:

LONG QT SYNDROME 2/5, DIGENIC, INCLUDED;LQT2/5, DIGENIC, INCLUDED |LONG QT SYNDROME 5, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED |LQT5

Slim Mappings:

Cardiovascular disease|Congenital abnormality|Pathology (process)

Reference:

MedGen: C566766
MeSH: C566766
OMIM: 613695;

Genes: KCNE1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001425	Heterogeneous
3	HP:0001657	Prolonged QT interval
4	HP:0001645	Sudden cardiac death
5	HP:0001279	Syncope
6	HP:0001664	Torsade de pointes
7	HP:0001663	Ventricular fibrillation

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar	Disease_hgmd
NM_000219.5(KCNE1):c.226G>A (p.Asp76Asn)	3753	KCNE1	Likely pathogenic;Pathogenic	74315445	RCV000148512; RCV000014419; RCV000014420; RCV000222568; RCV000119080;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:C1867904,OMIM:613695; MedGen:C2676723,OMIM:612347; MedGen:CN034131,OMIM:220400; MedGen:CN221809	21	35821707	35821707	NM_000219.5:c.226G>A	NP_000210.2:p.Asp76Asn	NC_000021.8:g.35821707C>T	OMIM Allelic Variant:176261.0003	C1141890 Congenital long QT syndrome; CN034131 220400 Jervell and Lange-Nielsen syndrome 1; C2676723 612347 Jervell and Lange-Nielsen syndrome 2; C1867904 613695 Long QT syndrome 5; CN221809 not provided
NM_000219.5(KCNE1):c.221C>T (p.Ser74Leu)	3753	KCNE1	Pathogenic	74315446	RCV000014421; RCV000119079;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:C1867904,OMIM:613695	21	35821712	35821712	NM_000219.5:c.221C>T	NP_000210.2:p.Ser74Leu	NC_000021.8:g.35821712G>A	OMIM Allelic Variant:176261.0004	C1141890 Congenital long QT syndrome; C1867904 613695 Long QT syndrome 5