{"Name":"Dilated cardiomyopathy 1E","DiseaseID__c":"GARD:0005644","id":5644,"encodedName":"dilated-cardiomyopathy-1e","IsDeleted":false,"Disease_Name_Full__c":"Dilated cardiomyopathy 1E","Xref_IDs__c":"C1832680; C212862; C563384; DOID:0110433; MEDGEN:331341; MONDO:0011003; OMIM:601154","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0011003","Disease_Description__c":"Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SCN5A gene.","GARD_Name__c":"Dilated cardiomyopathy 1E","GARD_Synonym__c":"cardiomyopathy dilated with conduction defect type 2; cardiomyopathy, dilated, 1e; cardiomyopathy, dilated, type 1e; cardiomyopathy, dilated, with conduction defect 2; cardiomyopathy, dilated, with conduction disorder and arrhythmia; cdcd2; cmd1e; dilated cardiomyopathy type 1e; dilated cardiomyopathy with conduction defect 2; dilated cardiomyopathy with conduction disorder and arrhythmia; familial isolated dilated cardiomyopathy caused by mutation in scn5a; scn5a familial isolated dilated cardiomyopathy; scn5a-associated dilated cardiomyopathy; scn5a-related dilated cardiomyopathy","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Dilated cardiomyopathy-1E (CMD1E) is a disease that affects the heart. It is caused by a change in a gene called SCN5A on chromosome 3p22. It follows an autosomal dominant pattern of inheritance.  Symptoms of CMD1E can include shortness of breath, fatigue, swelling in the legs and feet, irregular heartbeat, fainting episodes, and chest pain. People with CMD1E may develop an enlarged and weakened heart, which can lead to heart failure.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:601154","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011003","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Dilated cardiomyopathy-1E (CMD1E) is a disease that affects the heart. It is caused by a change in a gene called SCN5A on chromosome 3p22. It follows an autosomal dominant pattern of inheritance.  Symptoms of CMD1E can include shortness of breath, fatigue, swelling in the legs and feet, irregular heartbeat, fainting episodes, and chest pain. People with CMD1E may develop an enlarged and weakened heart, which can lead to heart failure.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"cardiomyopathy dilated with conduction defect type 2; cardiomyopathy, dilated, 1e; cardiomyopathy, dilated, type 1e; cardiomyopathy, dilated, with conduction defect 2; cardiomyopathy, dilated, with conduction disorder and arrhythmia; cdcd2; cmd1e; dilated cardiomyopathy type 1e; dilated cardiomyopathy with conduction defect 2; dilated cardiomyopathy with conduction disorder and arrhythmia; familial isolated dilated cardiomyopathy caused by mutation in scn5a; scn5a familial isolated dilated cardiomyopathy; scn5a-associated dilated cardiomyopathy; scn5a-related dilated cardiomyopathy","Name":"Dilated cardiomyopathy 1E","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005644","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1309","Source__c":"Gene Review","Xref__c":"NBK1309"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=331341","Source__c":"C1832680","Xref__c":"MEDGEN:331341"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110433","Source__c":"MONDO:0011003","Xref__c":"DOID:0110433"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1832680","Source__c":"C1832680","Xref__c":"C1832680"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563384","Source__c":"MONDO:0011003","Xref__c":"C563384"},{"URL__c":"https://www.omim.org/entry/601154","Source__c":"C1832680; MONDO:0011003","Xref__c":"OMIM:601154"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011003","Source__c":"GARD:0005644","Xref__c":"MONDO:0011003"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C212862","Source__c":"C1832680","Xref__c":"C212862"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SCN5A","GHR_URL__c":"https://medlineplus.gov/genetics/gene/scn5a","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:601154","Feature__r":{"HPO_Description__c":"Atrial standstill or silent atrium is a rare condition presenting with the absence of electrical and mechanical activity in the atria. It presents with the absence of P waves, bradycardia, and wide QRS complex in the electrocardiogram.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025478","HPO_Synonym__c":"Silent atrium","HPO_Name__c":"Atrial standstill","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601154","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":"OMIM:601154","Feature__r":{"HPO_Description__c":"Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001678","HPO_Synonym__c":"Interruption of electrical communication between upper and lower chambers of heart","HPO_Name__c":"Atrioventricular block","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601154","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011712","HPO_Synonym__c":"Right bundle branch block; Right bundle-branch block","HPO_Name__c":"Complete right bundle branch block","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601154","Feature__r":{"HPO_Description__c":"A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001962","HPO_Synonym__c":"Heart palpitations; Missed heart beat; Palpitations; Skipped heart beat","HPO_Name__c":"Palpitations","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601154","Feature__r":{"HPO_Description__c":"Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001644","HPO_Synonym__c":"Cardiomyopathy, dilated; Congestive cardiomyopathy; DCM; Stretched and thinned heart muscle","HPO_Name__c":"Dilated cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601154","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012664","HPO_Synonym__c":"Reduced ejection fraction","HPO_Name__c":"Reduced left ventricular ejection fraction","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Imaging_Echocardiogram"}},{"Provided_By__c":"OMIM:601154","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005110","HPO_Synonym__c":"Quivering upper heart chambers resulting in irregular heartbeat","HPO_Name__c":"Atrial fibrillation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601154","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011713","HPO_Name__c":"Left bundle branch block","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601154","Feature__r":{"HPO_Description__c":"A type of atrial arrhythmia characterized by atrial rates of between 240 and 400 beats per minute and some degree of atrioventricular node conduction block. Typically, the ventricular rate is half the atrial rate. In the EKG; atrial flutter waves are observed as sawtooth-like atrial activity. Pathophysiologically, atrial flutter is a form of atrial reentry in which there is a premature electrical impulse creates a self-propagating circuit.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004749","HPO_Name__c":"Atrial flutter","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601154","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004755","HPO_Synonym__c":"Supraventricular tachyarrhythmia; SVT","HPO_Name__c":"Supraventricular tachycardia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601154","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001297","HPO_Synonym__c":"Cerebral vascular events; Cerebrovascular accident; Stroke","HPO_Name__c":"Stroke","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601154","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006673","HPO_Name__c":"Reduced systolic function","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601154","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006682","HPO_Synonym__c":"Extra heart beat; Premature ventricular beat; Premature ventricular contractions; Ventricular ectopics; Ventricular extrasystoles; Ventricular premature beat","HPO_Name__c":"Premature ventricular contraction","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601154","Feature__r":{"HPO_Description__c":"A type of cardiac arrhythmia with premature atrial contractions or beats caused by signals originating from ectopic atrial sites.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006699","HPO_Synonym__c":"Atrial ectopic beats; Atrial premature complex; Ectopic supraventricular rhythms; PACs; Premature supraventricular beats","HPO_Name__c":"Premature atrial contractions","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["cardiomyopathy dilated with conduction defect type 2"," cardiomyopathy, dilated, 1e"," cardiomyopathy, dilated, type 1e"," cardiomyopathy, dilated, with conduction defect 2"," cardiomyopathy, dilated, with conduction disorder and arrhythmia"," cdcd2"," cmd1e"," dilated cardiomyopathy type 1e"," dilated cardiomyopathy with conduction defect 2"," dilated cardiomyopathy with conduction disorder and arrhythmia"," familial isolated dilated cardiomyopathy caused by mutation in scn5a"," scn5a familial isolated dilated cardiomyopathy"," scn5a-associated dilated cardiomyopathy"," scn5a-related dilated cardiomyopathy"]}