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Descriptor English: Jervell-Lange Nielsen Syndrome
Descriptor Spanish: Síndrome de Jervell-Lange Nielsen
Descriptor síndrome de Jervell-Lange Nielsen
Scope note: Forma de síndrome de QT largo que se asocia con sordera congénita. Se caracteriza por una electrofisiología cardiaca anormal que afecta al CANAL DE POTASIO DEPENDIENTE DEL VOLTAJE. Es consecuencia de una mutación en el gen KCNQ1 (subtipo 1 o JLN1) o del gen KCNE1 (subtipo 2 o JLN2).
Descriptor Portuguese: Síndrome de Jervell-Lange Nielsen
Descriptor French: Syndrome de Jervell et Lange Nielsen
Entry term(s): Cardio Auditory Syncope Syndrome
Cardio-Auditory-Syncope Syndrome
Cardio-Auditory-Syncope Syndromes
Cardioauditory Syndrome of Jervell and Lange Nielsen
Cardioauditory Syndrome of Jervell and Lange-Nielsen
Deafness, Congenital, and Functional Heart Disease
Jervell And Lange Nielsen Syndrome 1
Jervell And Lange-Nielsen Syndrome 1
Jervell Lange Nielsen Syndrome
Jervell and Lange Nielsen Syndrome
Jervell and Lange-Nielsen Syndrome
Prolonged QT Interval in EKG and Sudden Death
Surdo Cardiac Syndrome
Surdo-Cardiac Syndrome
Surdo-Cardiac Syndromes
Syndrome, Cardio-Auditory-Syncope
Syndrome, Jervell-Lange Nielsen
Syndrome, Surdo-Cardiac
Syndromes, Cardio-Auditory-Syncope
Tree number(s): C14.280.067.565.440
C14.280.123.625.440
C16.131.240.400.715.440
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D029593
Scope note: A form of long QT syndrome that is associated with congenital deafness. It is characterized by abnormal cardioelectrophysiology involving the VOLTAGE-GATED POTASSIUM CHANNEL. It results from mutation of KCNQ1 gene (Subtype 1 or JLN1) or the KCNE1 gene (Subtype 2 or JLN2).
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Previous Indexing: Deafness (1969-1985)
Long QT Syndrome (1986-2001)
Public MeSH Note: 2002; see LONG QT SYNDROME 1986-2001
History Note: 2002; use LONG QT SYNDROME 1986-2001
Related: KCNQ1 Potassium Channel MeSH
DeCS ID: 36017
Unique ID: D029593
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 2002/01/01
Date of Entry: 2001/07/25
Revision Date: 2019/07/05
Jervell-Lange Nielsen Syndrome - Preferred
Concept UI M0012683
Scope note A form of long QT syndrome that is associated with congenital deafness. It is characterized by abnormal cardioelectrophysiology involving the VOLTAGE-GATED POTASSIUM CHANNEL. It results from mutation of KCNQ1 gene (Subtype 1 or JLN1) or the KCNE1 gene (Subtype 2 or JLN2).
Preferred term Jervell-Lange Nielsen Syndrome
Entry term(s) Cardio Auditory Syncope Syndrome
Cardio-Auditory-Syncope Syndrome
Cardio-Auditory-Syncope Syndromes
Cardioauditory Syndrome of Jervell and Lange Nielsen
Cardioauditory Syndrome of Jervell and Lange-Nielsen
Deafness, Congenital, and Functional Heart Disease
Jervell Lange Nielsen Syndrome
Jervell and Lange Nielsen Syndrome
Jervell and Lange-Nielsen Syndrome
Prolonged QT Interval in EKG and Sudden Death
Surdo Cardiac Syndrome
Surdo-Cardiac Syndrome
Surdo-Cardiac Syndromes
Syndrome, Cardio-Auditory-Syncope
Syndrome, Jervell-Lange Nielsen
Syndrome, Surdo-Cardiac
Syndromes, Cardio-Auditory-Syncope
Jervell And Lange-Nielsen Syndrome 1 - Narrower
Concept UI M000649153
Preferred term Jervell And Lange-Nielsen Syndrome 1
Entry term(s) Jervell And Lange Nielsen Syndrome 1



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