{"Name":"Jervell and Lange-Nielsen syndrome","DiseaseID__c":"GARD:0003048","id":3048,"encodedName":"jervell-and-lange-nielsen-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Jervell and Lange-Nielsen syndrome","Xref_IDs__c":"373905003; 423022959; C0022387; C84793; D029593; DOID:2842; MEDGEN:5929; MONDO:0002441; NBK1405; OMIMPS:220400; ORPHA:90647","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":2,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":4,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0002441","Disease_Description__c":"An autosomal recessive inherited syndrome caused by mutations in the KCNE1 and KCNQ1 genes. It is characterized by congenital hearing loss and arrhythmia. It is a form of long QT syndrome.","GARD_Name__c":"Jervell and Lange-Nielsen syndrome","GARD_Synonym__c":"cardio-auditory syndrome; jervell and lange nielsen syndrome; jervell and lange-nielson syndrome; jervell lange-nielsen syndrome; jervell-lange nielsen syndrome; jlns; long qt interval-deafness syndrome; long qt interval-hearing loss syndrome","Curated_Disease_Description_Source__c":"GARD:0003048","Curated_Disease_Description__c":"Jervell and Lange-Nielsen syndrome is a condition that causes profound hearing loss from birth and a disruption of the heart's normal rhythm (arrhythmia). This disorder is a form of long QT syndrome, which is a heart condition that causes the heart (cardiac) muscle to take longer than usual to recharge between beats. Beginning in early childhood, the irregular heartbeats increase the risk of fainting (syncope) and sudden death.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:90647","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0002441","ORPHANET_ID__c":"ORPHA:90647","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de jervell y lange-nielsen","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de jervell y lange-nielsen","Spanish_GARD_Synonym__c":"síndrome de intervalo qt largo-hipoacusia; síndrome de intervalo qt largo-sordera","Category_Linearization__c":"ORPHA:97929","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Jervell and Lange-Nielsen syndrome is a condition that causes profound hearing loss from birth and a disruption of the heart's normal rhythm (arrhythmia). This disorder is a form of long QT syndrome, which is a heart condition that causes the heart (cardiac) muscle to take longer than usual to recharge between beats. Beginning in early childhood, the irregular heartbeats increase the risk of fainting (syncope) and sudden death.","Curated_Disease_Description_Source__c":"GARD:0003048","GARD_Synonym__c":"cardio-auditory syndrome; jervell and lange nielsen syndrome; jervell and lange-nielson syndrome; jervell lange-nielsen syndrome; jervell-lange nielsen syndrome; jlns; long qt interval-deafness syndrome; long qt interval-hearing loss syndrome","Name":"Jervell and Lange-Nielsen syndrome","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"American Hearing Research Foundation","Website__c":"https://www.american-hearing.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Cardiology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Clinical Cardiac Electrophysiology","Tag_Category__c":"Specialist","curated_tag_name":"Clinical cardiac electrophysiology"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:90647"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0022387"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003048","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1405","Source__c":"Gene Review","Xref__c":"NBK1405"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0022387","Source__c":"C0022387","Xref__c":"C0022387"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A2842","Source__c":"MONDO:0002441","Xref__c":"DOID:2842"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=5929","Source__c":"C0022387","Xref__c":"MEDGEN:5929"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C029593","Source__c":"C0022387; MONDO:0002441","Xref__c":"D029593"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS220400","Source__c":"MONDO:0002441","Xref__c":"OMIMPS:220400"},{"URL__c":"https://www.orpha.net/en/disease/detail/90647","Source__c":"C0022387; MONDO:0002441; ORPHA:90647","Xref__c":"ORPHA:90647"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=373905003","Source__c":"C0022387; MONDO:0002441","Xref__c":"373905003"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84793","Source__c":"C0022387; MONDO:0002441","Xref__c":"C84793"},{"URL__c":"https://medlineplus.gov/genetics/condition/jervell-and-lange-nielsen-syndrome","Source__c":"GARD:0003048","Xref__c":"https://medlineplus.gov/genetics/condition/jervell-and-lange-nielsen-syndrome"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0002441","Source__c":"GARD:0003048","Xref__c":"MONDO:0002441"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022959","Xref__c":"423022959"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KCNE1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/kcne1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"KCNQ1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/kcnq1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:90647","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Loss of awareness of oneself or one's surroundings, involving (i) a loss of normal motor control is evident as flaccidity or stiffness, either of which can be accompanied by jerking movements, and postural control is lost so that patients fall if they are in an upright position; (ii) normal responsiveness is lost; and (iii) the patient experiences amnesia for the event. Loss of consciousness my be transitory (e.g., syncope) or prolonged.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007185","HPO_Synonym__c":"Fainting; Loss of consciousness; Passing out","HPO_Name__c":"Loss of consciousness","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90647","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90647","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001663","HPO_Name__c":"Ventricular fibrillation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90647","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A form of sensorineural hearing impairment that affects both ears.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008619","HPO_Synonym__c":"Bilateral nerve deafness; Bilateral sensorineural deafness; Bilateral sensorineural hearing loss; Hearing loss, sensorineural, bilateral","HPO_Name__c":"Bilateral sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90647","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011675","HPO_Synonym__c":"Abnormal heart rate; Arrhythmias; Cardiac arrhythmia; Cardiac arrhythmias; Cardiac rhythm disturbances; Heart rhythm disorders; Irregular heart beat; Irregular heartbeat","HPO_Name__c":"Arrhythmia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90647","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Post-exertional symptom exacerbation (PESE), also referred to as post-exertional malaise (PEM), is defined as the worsening of symptoms that can follow minimal cognitive, physical, emotional, or social activity, or activity that could previously be tolerated. Symptoms typically worsen 12 to 72 hours after activity and can last for days or even weeks, sometimes leading to a relapse.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030973","HPO_Synonym__c":"Exercise-induced malaise; Postexertional malaise","HPO_Name__c":"Postexertional symptom exacerbation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90647","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005184","HPO_Name__c":"Prolonged QTc interval","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Procedure_EKG"}},{"Provided_By__c":"ORPHA:90647","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A transient loss of consciousness (i.e., characterized by a rapid onset, a short duration, and a spontaneous and complete recovery) due to cerebral hypoperfusion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001279","HPO_Synonym__c":"Fainting spell","HPO_Name__c":"Syncope","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90647","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001664","HPO_Synonym__c":"Torsades de pointes","HPO_Name__c":"Torsade de pointes","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90647","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Complete loss of hearing related to a sensorineural defect.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011476","HPO_Name__c":"Profound sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90647","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001891","HPO_Synonym__c":"Ferropenic; Iron-deficiency anemia","HPO_Name__c":"Iron deficiency anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Cardiology","Otolaryngology","Clinical Cardiac Electrophysiology","Pediatrics"]},"synonyms":["cardio-auditory syndrome"," jervell and lange nielsen syndrome"," jervell and lange-nielson syndrome"," jervell lange-nielsen syndrome"," jervell-lange nielsen syndrome"," jlns"," long qt interval-deafness syndrome"," long qt interval-hearing loss syndrome"]}