Human Phenotype Ontology 
Grandparent Node:
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Cardiac conduction abnormality (HP:0031546)help
Parent Node:
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Abnormal electrophysiology of sinoatrial node origin (HP:0011702)help
Parent Node:
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Heart block (HP:0012722)help
..Starting node
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Sick sinus syndrome (HP:0011704)help
Term ID: 11704
Name: Sick sinus syndrome
Synonym: Sinoatrial node disease
Definition: An abnormality involving the generation of the action potential by the sinus node and is characterized by an atrial rate inappropriate for physiological requirements. Manifestations include severe sinus bradycardia, sinus pauses or arrest, sinus node exit block, chronic atrial tachyarrhythmias, alternating periods of atrial bradyarrhythmias and tachyarrhythmias, and inappropriate responses of heart rate during exercise or stress.
Comments:
Reference: HP:0011704
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAtrioventricular block (HP:0001678) help
..expandBundle branch block (HP:0011710) help
..expandSinoatrial block (HP:0012723) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011704HP:0011704Sick sinus syndrome0ABCC9 CL E G H1006060ORPHA:130Brugada syndromeHP:0040283 - Occasional254
HP:0011704HP:0011704Sick sinus syndrome0AKAP9 CL E G H10142379ORPHA:130Brugada syndromeHP:0040283 - Occasional289
HP:0011704HP:0011704Sick sinus syndrome0CACNA1C CL E G H7751390ORPHA:130Brugada syndromeHP:0040283 - Occasional572
HP:0011704HP:0011704Sick sinus syndrome0CACNA2D1 CL E G H7811399ORPHA:130Brugada syndromeHP:0040283 - Occasional59
HP:0011704HP:0011704Sick sinus syndrome0CACNB2 CL E G H7831402ORPHA:130Brugada syndromeHP:0040283 - Occasional206
HP:0011704HP:0011704Sick sinus syndrome0CASQ2 CL E G H8451513OMIM:604772VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1129
HP:0011704HP:0011704Sick sinus syndrome0GNB5 CL E G H106814401ORPHA:542306GNB5-related intellectual disability-cardiac arrhythmia syndromeHP:0040282 - Frequent7
HP:0011704HP:0011704Sick sinus syndrome0GNB5 CL E G H106814401OMIM:617173Intellectual developmental disorder with cardiac arrhythmia.7
HP:0011704HP:0011704Sick sinus syndrome0GNB5 CL E G H106814401OMIM:617182Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmiaHP:0040283 - Occasional7
HP:0011704HP:0011704Sick sinus syndrome0GPD1L CL E G H2317128956ORPHA:130Brugada syndromeHP:0040283 - Occasional97
HP:0011704HP:0011704Sick sinus syndrome0HCN4 CL E G H1002116882ORPHA:130Brugada syndromeHP:0040283 - Occasional185
HP:0011704HP:0011704Sick sinus syndrome0HCN4 CL E G H1002116882OMIM:163800Sick sinus syndrome 2.185
HP:0011704HP:0011704Sick sinus syndrome0KCND3 CL E G H37526239ORPHA:130Brugada syndromeHP:0040283 - Occasional35
HP:0011704HP:0011704Sick sinus syndrome0KCNE3 CL E G H100086243ORPHA:130Brugada syndromeHP:0040283 - Occasional73
HP:0011704HP:0011704Sick sinus syndrome0KCNE5 CL E G H236306241ORPHA:130Brugada syndromeHP:0040283 - Occasional5
HP:0011704HP:0011704Sick sinus syndrome0KCNJ8 CL E G H37646269ORPHA:130Brugada syndromeHP:0040283 - Occasional23
HP:0011704HP:0011704Sick sinus syndrome0MYH6 CL E G H46247576OMIM:614090SICK SINUS SYNDROME 3, SUSCEPTIBILITY TO; SSS3452
HP:0011704HP:0011704Sick sinus syndrome0NPPA CL E G H48787939ORPHA:1344Atrial standstillHP:0040282 - Frequent13
HP:0011704HP:0011704Sick sinus syndrome0PKP2 CL E G H53189024ORPHA:130Brugada syndromeHP:0040283 - Occasional406
HP:0011704HP:0011704Sick sinus syndrome0RANGRF CL E G H2909817679ORPHA:130Brugada syndromeHP:0040283 - Occasional22
HP:0011704HP:0011704Sick sinus syndrome0RYR2 CL E G H626210484OMIM:604772VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT11103
HP:0011704HP:0011704Sick sinus syndrome0SCN10A CL E G H633610582ORPHA:130Brugada syndromeHP:0040283 - Occasional146
HP:0011704HP:0011704Sick sinus syndrome0SCN1B CL E G H632410586ORPHA:130Brugada syndromeHP:0040283 - Occasional126
HP:0011704HP:0011704Sick sinus syndrome0SCN2B CL E G H632710589ORPHA:130Brugada syndromeHP:0040283 - Occasional21
HP:0011704HP:0011704Sick sinus syndrome0SCN3B CL E G H5580020665ORPHA:130Brugada syndromeHP:0040283 - Occasional122
HP:0011704HP:0011704Sick sinus syndrome0SCN5A CL E G H633110593ORPHA:1344Atrial standstillHP:0040282 - Frequent1134
HP:0011704HP:0011704Sick sinus syndrome0SCN5A CL E G H633110593ORPHA:130Brugada syndromeHP:0040283 - Occasional1134
HP:0011704HP:0011704Sick sinus syndrome0SCN5A CL E G H633110593OMIM:608567SICK SINUS SYNDROME 1; SSS11134
HP:0011704HP:0011704Sick sinus syndrome0SCNN1A CL E G H633710599ORPHA:130Brugada syndromeHP:0040283 - Occasional67
HP:0011704HP:0011704Sick sinus syndrome0SEMA3A CL E G H1037110723ORPHA:130Brugada syndromeHP:0040283 - Occasional14
HP:0011704HP:0011704Sick sinus syndrome0SGO1 CL E G H15164825088OMIM:616201Chronic atrial and intestinal dysrhythmia.2
HP:0011704HP:0011704Sick sinus syndrome0SLMAP CL E G H787116643ORPHA:130Brugada syndromeHP:0040283 - Occasional18
HP:0011704HP:0011704Sick sinus syndrome0TRDN CL E G H1034512261OMIM:604772VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1145
HP:0011704HP:0011704Sick sinus syndrome0TRPM4 CL E G H5479517993ORPHA:130Brugada syndromeHP:0040283 - Occasional124


Genes (29) :ABCC9 AKAP9 CACNA1C CACNA2D1 CACNB2 CASQ2 GNB5 GPD1L HCN4 KCND3 KCNE3 KCNE5 KCNJ8 MYH6 NPPA PKP2 RANGRF RYR2 SCN10A SCN1B SCN2B SCN3B SCN5A SCNN1A SEMA3A SGO1 SLMAP TRDN TRPM4

Diseases (10) :ORPHA:130 OMIM:604772 ORPHA:542306 OMIM:617173 OMIM:617182 OMIM:163800 OMIM:614090 ORPHA:1344 OMIM:608567 OMIM:616201
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.