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Descriptor English:   Jervell-Lange Nielsen Syndrome 
Descriptor Spanish:   Síndrome de Jervell-Lange Nielsen 
Descriptor Portuguese:   Síndrome de Jervell-Lange Nielsen 
Synonyms English:   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:   C14.280.067.565.440
Definition English:   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). 
See Related English:   KCNQ1 Potassium Channel
History Note English:   2002; use LONG QT SYNDROME 1986-2001 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   36017 
Unique Identifier:   D029593 

Occurrence in VHL: