{"Name":"Dilated cardiomyopathy 1J","DiseaseID__c":"GARD:0017128","id":17128,"encodedName":"dilated-cardiomyopathy-1j","IsDeleted":false,"Disease_Name_Full__c":"Dilated cardiomyopathy 1J","Xref_IDs__c":"C1854368; C565337; DOID:0110440; MEDGEN:343105; MONDO:0011541; OMIM:605362; ORPHA:217622","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0011541","Disease_Description__c":"Sensorineural deafness with dilated cardiomyopathy is an extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure.","GARD_Name__c":"Dilated cardiomyopathy 1J","GARD_Synonym__c":"autosomal dominant dilated cardiomyopathy with sensorineural hearing loss; cardiomyopathy, dilated, type 1j; cardiomyopathy, dilated, with sensorineural hearing loss, autosomal dominant; cmd1j; dilated cardiomyopathy type 1j; eya4 familial dilated cardiomyopathy; eya4-related dilated cardiomyopathy; familial dilated cardiomyopathy caused by mutation in eya4; neurosensory deafness with dilated cardiomyopathy; neurosensory hearing loss with dilated cardiomyopathy; sensorineural deafness with dilated cardiomyopathy; sensorineural hearing loss with dilated cardiomyopathy","Curated_Disease_Description_Source__c":"MONDO:0011541","Curated_Disease_Description__c":"Sensorineural deafness with dilated cardiomyopathy is an extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:217622","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011541","ORPHANET_ID__c":"ORPHA:217622","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Sordera neurosensorial con miocardiopatía dilatada","Spanish_Description_Source__c":"ORPHA:217622","Spanish_Description__c":"La sordera neurosensorial con miocardiopatía dilatada es un trastorno autosómico dominante extremadamente raro descrito hasta la fecha en dos familias, y caracterizado por la moderada-severa pérdida de la audición neurosensorial, que se manifiesta durante la niñez y se asocia con una miocardiopatía dilatada de aparición tardía, y que generalmente progresa a insuficiencia cardiaca.","Spanish_Disease_Name__c":"sordera neurosensorial con miocardiopatía dilatada","Spanish_GARD_Synonym__c":"hipoacusia neurosensorial con miocardiopatía dilatada","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":"Sensorineural deafness with dilated cardiomyopathy is an extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure.","Curated_Disease_Description_Source__c":"MONDO:0011541","GARD_Synonym__c":"autosomal dominant dilated cardiomyopathy with sensorineural hearing loss; cardiomyopathy, dilated, type 1j; cardiomyopathy, dilated, with sensorineural hearing loss, autosomal dominant; cmd1j; dilated cardiomyopathy type 1j; eya4 familial dilated cardiomyopathy; eya4-related dilated cardiomyopathy; familial dilated cardiomyopathy caused by mutation in eya4; neurosensory deafness with dilated cardiomyopathy; neurosensory hearing loss with dilated cardiomyopathy; sensorineural deafness with dilated cardiomyopathy; sensorineural hearing loss with dilated cardiomyopathy","Name":"Dilated cardiomyopathy 1J","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Children's Cardiomyopathy Foundation","Website__c":"https://www.childrenscardiomyopathy.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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:217622"}],"External_Identifier_Disease__c":[{"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/mesh/C565337","Source__c":"MONDO:0011541","Xref__c":"C565337"},{"URL__c":"https://www.omim.org/entry/605362","Source__c":"C1854368; MONDO:0011541; ORPHA:217622","Xref__c":"OMIM:605362"},{"URL__c":"https://www.orpha.net/en/disease/detail/217622","Source__c":"C1854368; MONDO:0011541","Xref__c":"ORPHA:217622"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1854368","Source__c":"C1854368","Xref__c":"C1854368"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=343105","Source__c":"C1854368","Xref__c":"MEDGEN:343105"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110440","Source__c":"MONDO:0011541","Xref__c":"DOID:0110440"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011541","Source__c":"GARD:0017128","Xref__c":"MONDO:0011541"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"EYA4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:217622","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000403","HPO_Synonym__c":"Frequent otitis media; Multiple episodes of otitis media; Otitis media, recurrent; Recurrent episodes of otitis media; Recurrent middle ear infection; Susceptibility to otitis media","HPO_Name__c":"Recurrent otitis media","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:217622","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:217622","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:217622","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the cardiac ventricular function.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030872","HPO_Name__c":"Abnormal cardiac ventricular function","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:217622","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Cardiology","Pediatrics"],"Account":["Cardiomyopathy"]},"synonyms":["autosomal dominant dilated cardiomyopathy with sensorineural hearing loss"," cardiomyopathy, dilated, type 1j"," cardiomyopathy, dilated, with sensorineural hearing loss, autosomal dominant"," cmd1j"," dilated cardiomyopathy type 1j"," eya4 familial dilated cardiomyopathy"," eya4-related dilated cardiomyopathy"," familial dilated cardiomyopathy caused by mutation in eya4"," neurosensory deafness with dilated cardiomyopathy"," neurosensory hearing loss with dilated cardiomyopathy"," sensorineural deafness with dilated cardiomyopathy"," sensorineural hearing loss with dilated cardiomyopathy"]}