{"Name":"Sinoatrial node dysfunction and deafness","DiseaseID__c":"GARD:0017484","id":17484,"encodedName":"sinoatrial-node-dysfunction-and-deafness","IsDeleted":false,"Disease_Name_Full__c":"Sinoatrial node dysfunction and deafness","Xref_IDs__c":"770784003; C3554018; MEDGEN:766932; MONDO:0013960; OMIM:614896; ORPHA:324321","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"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":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0013960","Disease_Description__c":"Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress.","GARD_Name__c":"Sinoatrial node dysfunction and deafness","GARD_Synonym__c":"sandd; sinoatrial node dysfunction and hearing loss","Curated_Disease_Description_Source__c":"MONDO:0013960","Curated_Disease_Description__c":"Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:324321","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013960","ORPHANET_ID__c":"ORPHA:324321","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Disfunción del nodo sinusal y sordera","Spanish_Description_Source__c":"ORPHA:324321","Spanish_Description__c":"Es una enfermedad genética poco frecuente, caracterizada por sordera congénita de grave a profunda sin evidencia de disfunción vestibular, junto con disfunción del nódulo sinoauricular con bradicardia acentuada y una mayor variabilidad de la frecuencia cardíaca en reposo, así como síncopes episódicos que pueden estar desencadenados por un aumento de actividad física y estrés.","Spanish_Disease_Name__c":"disfunción del nodo sinusal y sordera","Spanish_GARD_Synonym__c":"disfunción del nodo sinusal e hipoacusia","Category_Linearization__c":"ORPHA:98036","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":"Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress.","Curated_Disease_Description_Source__c":"MONDO:0013960","GARD_Synonym__c":"sandd; sinoatrial node dysfunction and hearing loss","Name":"Sinoatrial node dysfunction and deafness","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Infancy","Provided_By__c":"ORPHA:324321"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:324321"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=766932","Source__c":"C3554018","Xref__c":"MEDGEN:766932"},{"URL__c":"https://www.omim.org/entry/614896","Source__c":"C3554018; MONDO:0013960; ORPHA:324321","Xref__c":"OMIM:614896"},{"URL__c":"https://www.orpha.net/en/disease/detail/324321","Source__c":"C3554018; MONDO:0013960; ORPHA:324321","Xref__c":"ORPHA:324321"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3554018","Source__c":"C3554018","Xref__c":"C3554018"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013960","Source__c":"GARD:0017484","Xref__c":"MONDO:0013960"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=770784003","Source__c":"C3554018","Xref__c":"770784003"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CACNA1D","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cacna1d","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:614896","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A slower than normal heart rate (in adults, slower than 60 beats per minute).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001662","HPO_Synonym__c":"Brachycardia; Slow heartbeats","HPO_Name__c":"Bradycardia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614896","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":"OMIM:614896","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031862","HPO_Name__c":"Increased heart rate variability","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614896","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Cardiology","Otolaryngology","Clinical Cardiac Electrophysiology","Pediatrics"]},"synonyms":["sandd"," sinoatrial node dysfunction and hearing loss"]}