{"Name":"Dilated cardiomyopathy 1A","DiseaseID__c":"GARD:0018615","id":18615,"encodedName":"dilated-cardiomyopathy-1a","IsDeleted":false,"Disease_Name_Full__c":"Dilated cardiomyopathy 1A","Xref_IDs__c":"766883006; C165596; C5979868; DOID:0110425; MEDGEN:1875382; MONDO:0007269; OMIM:115200; ORPHA:300751","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"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":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007269","Disease_Description__c":"A rare familial cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy.","GARD_Name__c":"Dilated cardiomyopathy 1A","GARD_Synonym__c":"cardiomyopathy dilated with conduction defect type 1; cardiomyopathy, congestive; cardiomyopathy, dilated, type 1a; cardiomyopathy, dilated, with conduction defect 1; cdcd1; cmd1a; dilated cardiomyopathy type 1a; dilated cardiomyopathy with conduction defect 1; dilated cardiomyopathy with quadriceps myopathy; familial dilated cardiomyopathy with conduction defect due to lmna mutation; familial isolated dilated cardiomyopathy caused by mutation in lmna; lmna familial isolated dilated cardiomyopathy","Curated_Disease_Description_Source__c":"MONDO:0007269","Curated_Disease_Description__c":"A rare familial cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:300751","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007269","ORPHANET_ID__c":"ORPHA:300751","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Miocardiopatía dilatada familiar con defecto de conducción por una mutación en el gen lmna","Spanish_Description_Source__c":"ORPHA:300751","Spanish_Description__c":"Es una miocardiopatía familiar poco frecuente caracterizada por la dilatación del ventrículo izquierdo y/o función sistólica reducida precedida o acompañada por enfermedad del sistema de conducción significativa y/o arritmias, incluyendo bradiarritmias y arritmias supraventriculares o ventriculares. Por lo general, la enfermedad debuta en la edad adulta temprana o media. Puede ocurrir muerte cardíaca súbita, siendo éste el síntoma de presentación. En algunos casos, se asocia a miopatía esquelética.","Spanish_Disease_Name__c":"miocardiopatía dilatada familiar con defecto de conducción por una mutación en el gen lmna","Spanish_GARD_Synonym__c":null,"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":"A rare familial cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy.","Curated_Disease_Description_Source__c":"MONDO:0007269","GARD_Synonym__c":"cardiomyopathy dilated with conduction defect type 1; cardiomyopathy, congestive; cardiomyopathy, dilated, type 1a; cardiomyopathy, dilated, with conduction defect 1; cdcd1; cmd1a; dilated cardiomyopathy type 1a; dilated cardiomyopathy with conduction defect 1; dilated cardiomyopathy with quadriceps myopathy; familial dilated cardiomyopathy with conduction defect due to lmna mutation; familial isolated dilated cardiomyopathy caused by mutation in lmna; lmna familial isolated dilated cardiomyopathy","Name":"Dilated cardiomyopathy 1A","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"LMNA Cardiac Diseases Network","Website__c":"https://www.lmnacardiac.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":"Cardiomyopathy","Tag_Category__c":"Account","curated_tag_name":"Cardiomyopathy"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:300751"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1309","Xref__c":"NBK1309"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1674","Source__c":"Gene Review","Xref__c":"NBK1674"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110425","Source__c":"MONDO:0007269","Xref__c":"DOID:0110425"},{"URL__c":"https://www.orpha.net/en/disease/detail/300751","Source__c":"C5979868; MONDO:0007269","Xref__c":"ORPHA:300751"},{"URL__c":"https://www.omim.org/entry/115200","Source__c":"C5979868; MONDO:0007269; ORPHA:300751","Xref__c":"OMIM:115200"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=766883006","Source__c":"MONDO:0007269","Xref__c":"766883006"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1875382","Source__c":"C5979868","Xref__c":"MEDGEN:1875382"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5979868","Source__c":"C5979868","Xref__c":"C5979868"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007269","Source__c":"GARD:0018615","Xref__c":"MONDO:0007269"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C165596","Source__c":"C5979868","Xref__c":"C165596"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LMNA","GHR_URL__c":"https://medlineplus.gov/genetics/gene/lmna","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:300751","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":"ORPHA:300751","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Disturbance in the atrial activation that is caused by transient failure of impulse conduction from the sinoatrial node to the cardiac atria.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012723","HPO_Name__c":"Sinoatrial block","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300751","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005162","HPO_Synonym__c":"Impaired left ventricular function; Left ventricular dysfunction; Left ventricular failure; Left ventricular impairment; Left-sided heart failure","HPO_Name__c":"Abnormal left ventricular function","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300751","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:300751","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A structural anomaly of the muscle layer of the heart wall.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001637","HPO_Synonym__c":"Abnormality of the myocardium","HPO_Name__c":"Abnormal myocardium morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300751","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004308","HPO_Synonym__c":"Ventricular arrhythmias","HPO_Name__c":"Ventricular arrhythmia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300751","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Accumulation of fluid within the pericardium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001698","HPO_Synonym__c":"Fluid around heart; Pericardial effusions","HPO_Name__c":"Pericardial effusion","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300751","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any anomaly of the progression of electrical impulses through the heart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031546","HPO_Synonym__c":"Abnormality of cardiac conduction; Abnormality of cardiac conduction system; Cardiac conduction abnormalities; Cardiac conduction defects; Heart conduction disorder","HPO_Name__c":"Cardiac conduction abnormality","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300751","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:300751","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Degenerative changes of the fat tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009125","HPO_Synonym__c":"Inability to make and keep healthy fat tissue","HPO_Name__c":"Lipodystrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300751","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001645","HPO_Synonym__c":"Premature sudden cardiac death; Sudden cardiac death","HPO_Name__c":"Sudden cardiac death","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300751","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:300751","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003560","HPO_Name__c":"Muscular dystrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300751","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012722","HPO_Name__c":"Heart block","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300751","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001635","HPO_Synonym__c":"Cardiac failure; Cardiac failures; Cardiac insufficiency; CHF; Chronic heart failure; Heart failure","HPO_Name__c":"Congestive heart failure","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300751","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:300751","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any anomaly of lymphocyte function.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031409","HPO_Name__c":"Abnormal lymphocyte physiology","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Cardiology"],"Account":["Cardiomyopathy"]},"synonyms":["cardiomyopathy dilated with conduction defect type 1"," cardiomyopathy, congestive"," cardiomyopathy, dilated, type 1a"," cardiomyopathy, dilated, with conduction defect 1"," cdcd1"," cmd1a"," dilated cardiomyopathy type 1a"," dilated cardiomyopathy with conduction defect 1"," dilated cardiomyopathy with quadriceps myopathy"," familial dilated cardiomyopathy with conduction defect due to lmna mutation"," familial isolated dilated cardiomyopathy caused by mutation in lmna"," lmna familial isolated dilated cardiomyopathy"]}