Jervell Lange-Nielsen syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
JLNS1; Deafness, congenital, and functional heart disease; Prolonged QT interval in EKG and sudden death;
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Heart Diseases
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|Bilateral sensorineural hearing impairment||0008619|
|Profound sensorineural hearing impairment||0011476|
|Prolonged QTc interval||0005184|
|30%-79% of people have these symptoms|
|Loss of consciousness||
|Torsade de pointes||0001664|
|5%-29% of people have these symptoms|
|Percent of people who have these symptoms is not available through HPO|
|Prolonged QT interval||0001657|
|Sudden cardiac death||
Premature sudden cardiac death
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
- Orphanet lists international laboratories offering diagnostic testing for this condition.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnosis for hearing loss includes other forms of syndromic and nonsyndromic congenital and acquired disorders associated with sensorineural hearing loss. Differential diagnosis for cardiac events includes Romano-Ward syndrome and other forms of LQTS (see these terms), electrolyte abnormalities (hypokalemia, hypomagnesemia, and hypocalcemia), orthostatic hypotension, vasovagal syncope, and drug-induced LQTS.
Visit the Orphanet disease page for more information.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
- Genetics Home Reference (GHR) contains information on Jervell Lange-Nielsen syndrome. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
JLNS type 1
JLNS type 2
- Online Mendelian Inheritance in Man (OMIM) lists the subtypes and associated genes for Jervell Lange-Nielsen syndrome in a table called Phenotypic Series. Each entry in OMIM includes a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Jervell Lange-Nielsen syndrome. Click on the link to view a sample search on this topic.
- Identification and Treatment of Sudden Death Conditions in Young Patients. A presentation by David Bradley, M.D., Director, Pediatric Heart Rhythm Service, CS Mott Children's Hospital. Assoicate Professor, Department of Pediatrics and Communicable Diseases, University of Michigan.
- Dr Giuseppe CELANO, Dr Lia CROTTI, Dr Federica DAGRADI, Pr Peter SCHWARTZ. Jervell and Lange-Nielsen syndrome. Orphanet. October 2009; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90647. Accessed 6/17/2016.
- Theresa Lai, Lisbeth Tranebjærg. Jervell and Lange-Nielsen syndrome. NORD. 2016; https://rarediseases.org/rare-diseases/jervell-and-lange-nielsen-syndrome/.
- Jervell and Lange-Nielsen syndrome. Genetics Home Reference. April 2006; https://ghr.nlm.nih.gov/condition/jervell-and-lange-nielsen-syndrome. Accessed 6/17/2016.