MCID: JRV002
MIFTS: 27

Jervell and Lange-Nielsen Syndrome 2

Categories: Genetic diseases, Rare diseases, Ear diseases, Cardiovascular diseases, Fetal diseases

Aliases & Classifications for Jervell and Lange-Nielsen Syndrome 2

MalaCards integrated aliases for Jervell and Lange-Nielsen Syndrome 2:

Name: Jervell and Lange-Nielsen Syndrome 2 54 50 71 29 13 69
Jlns2 50 71
Cardioauditory Syndrome of Jervell and Lange-Nielsen 71
Congenital Deafness and Functional Heart Disease 71
Prolonged Qt Interval in Ekg and Sudden Death 71
Jervell-Lange Nielsen Syndrome 69
Long Qt Interval-Deafness 71
Surdo-Cardiac Syndrome 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity


HPO:

32
jervell and lange-nielsen syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Jervell and Lange-Nielsen Syndrome 2

UniProtKB/Swiss-Prot : 71 Jervell and Lange-Nielsen syndrome 2: An autosomal recessive disorder characterized by congenital deafness, prolongation of the QT interval, syncopal attacks due to ventricular arrhythmias, and a high risk of sudden death.

MalaCards based summary : Jervell and Lange-Nielsen Syndrome 2, also known as jlns2, is related to jervell and lange-nielsen syndrome, and has symptoms including syncope, sensorineural hearing impairment and prolonged qt interval. An important gene associated with Jervell and Lange-Nielsen Syndrome 2 is KCNE1 (Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 1). The drugs Ibutilide and Progesterone have been mentioned in the context of this disorder. Affiliated tissues include heart.

Description from OMIM: 612347

Related Diseases for Jervell and Lange-Nielsen Syndrome 2

Diseases in the Jervell and Lange-Nielsen Syndrome family:

Jervell and Lange-Nielsen Syndrome 2

Diseases related to Jervell and Lange-Nielsen Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 jervell and lange-nielsen syndrome 11.7

Symptoms & Phenotypes for Jervell and Lange-Nielsen Syndrome 2

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Ears:
congenital sensorineural hearing loss

Cardiovascular- Heart:
prolonged qt interval on ekg
syncope
torsades de pointes
sudden cardiac death


Clinical features from OMIM:

612347

Human phenotypes related to Jervell and Lange-Nielsen Syndrome 2:

32
id Description HPO Frequency HPO Source Accession
1 syncope 32 HP:0001279
2 sensorineural hearing impairment 32 HP:0000407
3 prolonged qt interval 32 HP:0001657

UMLS symptoms related to Jervell and Lange-Nielsen Syndrome 2:


syncope

Drugs & Therapeutics for Jervell and Lange-Nielsen Syndrome 2

Drugs for Jervell and Lange-Nielsen Syndrome 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 15)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ibutilide Approved Phase 4,Phase 2 122647-32-9, 122647-31-8 60753
2
Progesterone Approved, Vet_approved Phase 4,Phase 2 57-83-0 5994
3
Methyltestosterone Approved Phase 4 58-18-4 6010
4
Testosterone Approved, Investigational Phase 4 58-22-0 6013
5 Anti-Arrhythmia Agents Phase 4,Phase 2
6 Hormone Antagonists Phase 4,Phase 2
7 Hormones Phase 4,Phase 2
8 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2
9 Progestins Phase 4,Phase 2
10 Anabolic Agents Phase 4
11 Androgens Phase 4
12 Antineoplastic Agents, Hormonal Phase 4
13 Testosterone 17 beta-cypionate Phase 4
14
Testosterone enanthate Phase 4 315-37-7 9416
15 Testosterone undecanoate Phase 4

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Influence of Testosterone Administration on Drug-Induced QT Interval Prolongation and Torsades de Pointes Recruiting NCT02513940 Phase 4 Testosterone;Progesterone;Placebo;Ibutilide
2 Influence of Progesterone Administration on Drug-Induced QT Interval Lengthening Completed NCT01929083 Phase 2 Progesterone;Placebo;Ibutilide

Search NIH Clinical Center for Jervell and Lange-Nielsen Syndrome 2

Genetic Tests for Jervell and Lange-Nielsen Syndrome 2

Genetic tests related to Jervell and Lange-Nielsen Syndrome 2:

id Genetic test Affiliating Genes
1 Jervell and Lange-Nielsen Syndrome 2 29

Anatomical Context for Jervell and Lange-Nielsen Syndrome 2

MalaCards organs/tissues related to Jervell and Lange-Nielsen Syndrome 2:

39
Heart

Publications for Jervell and Lange-Nielsen Syndrome 2

Variations for Jervell and Lange-Nielsen Syndrome 2

UniProtKB/Swiss-Prot genetic disease variations for Jervell and Lange-Nielsen Syndrome 2:

71
id Symbol AA change Variation ID SNP ID
1 KCNE1 p.Thr7Ile VAR_008897 rs28933384
2 KCNE1 p.Val47Phe VAR_008898 rs199473353
3 KCNE1 p.Leu51His VAR_008899
4 KCNE1 p.Asp76Asn VAR_008901 rs74315445

ClinVar genetic disease variations for Jervell and Lange-Nielsen Syndrome 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 KCNE1 NM_000219.5(KCNE1): c.172_177delACCCTGinsCCCCCT (p.Thr58_Leu59delinsProPro) indel Pathogenic rs281865421 GRCh37 Chromosome 21, 35821756: 35821761
2 KCNE1 NM_000219.5(KCNE1): c.20C> T (p.Thr7Ile) single nucleotide variant Pathogenic rs28933384 GRCh37 Chromosome 21, 35821913: 35821913
3 KCNE1 NM_000219.5(KCNE1): c.226G> A (p.Asp76Asn) single nucleotide variant Pathogenic/Likely pathogenic rs74315445 GRCh37 Chromosome 21, 35821707: 35821707

Expression for Jervell and Lange-Nielsen Syndrome 2

Search GEO for disease gene expression data for Jervell and Lange-Nielsen Syndrome 2.

Pathways for Jervell and Lange-Nielsen Syndrome 2

GO Terms for Jervell and Lange-Nielsen Syndrome 2

Sources for Jervell and Lange-Nielsen Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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