{"Name":"Chronic atrial and intestinal dysrhythmia","DiseaseID__c":"GARD:0012281","id":12281,"encodedName":"chronic-atrial-and-intestinal-dysrhythmia","IsDeleted":false,"Disease_Name_Full__c":"Chronic atrial and intestinal dysrhythmia","Xref_IDs__c":"720507006; C4015474; DOID:0060339; MEDGEN:863911; MONDO:0014528; OMIM:616201; ORPHA:435988","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":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0014528","Disease_Description__c":"A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has material basis in the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO).","GARD_Name__c":"Chronic atrial and intestinal dysrhythmia","GARD_Synonym__c":"caid; caid (chronic atrial and intestinal dysrhythmia) syndrome; caid syndrome; chronic atrial and intestinal dysrhythmia syndrome; chronic atrial dysrhythmia-intestinal motility disorder","Curated_Disease_Description_Source__c":"MONDO:0014528","Curated_Disease_Description__c":"Chronic atrial and intestinal dysrhythmia (CAID) is a disorder affecting the heart and the digestive system. CAID disrupts the normal rhythm of the heartbeat; affected individuals have a heart rhythm abnormality called sick sinus syndrome. The disorder also impairs the rhythmic muscle contractions that propel food through the intestines (peristalsis), causing a digestive condition called intestinal pseudo-obstruction. The heart and digestive issues develop at the same time, usually by age 20. Sick sinus syndrome (also known as sinus node dysfunction) is an abnormality of the sinoatrial (SA) node, which is an area of specialized cells in the heart that functions as a natural pacemaker. The SA node generates electrical impulses that start each heartbeat. These signals travel from the SA node to the rest of the heart, signaling the heart (cardiac) muscle to contract and pump blood. In people with sick sinus syndrome, the SA node does not function normally, which usually causes the heartbeat to be too slow (bradycardia), although occasionally the heartbeat is too fast (tachycardia) or rapidly switches from being too fast to being too slow (tachycardia-bradycardia syndrome). Symptoms related to abnormal heartbeats can include dizziness, light-headedness, fainting (syncope), a sensation of fluttering or pounding in the chest (palpitations), and confusion or memory problems. During exercise, many affected individuals experience chest pain, difficulty breathing, or excessive tiredness (fatigue). In intestinal pseudo-obstruction, impairment of peristalsis leads to a buildup of partially digested food in the intestines, abdominal swelling (distention) and pain, nausea, vomiting, and constipation or diarrhea. Affected individuals experience loss of appetite and impaired ability to absorb nutrients, which may lead to malnutrition. These symptoms resemble those caused by an intestinal blockage (obstruction) such as a tumor, but in intestinal pseudo-obstruction no such blockage is found.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:435988","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014528","ORPHANET_ID__c":"ORPHA:435988","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de disritmia auricular e intestinal crónico","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de disritmia auricular e intestinal crónico","Spanish_GARD_Synonym__c":"síndrome caid; trastorno de disritmia auricular-mobilidad intestinal crónico","Category_Linearization__c":"ORPHA:97935","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":"Chronic atrial and intestinal dysrhythmia (CAID) is a disorder affecting the heart and the digestive system. CAID disrupts the normal rhythm of the heartbeat; affected individuals have a heart rhythm abnormality called sick sinus syndrome. The disorder also impairs the rhythmic muscle contractions that propel food through the intestines (peristalsis), causing a digestive condition called intestinal pseudo-obstruction. The heart and digestive issues develop at the same time, usually by age 20. Sick sinus syndrome (also known as sinus node dysfunction) is an abnormality of the sinoatrial (SA) node, which is an area of specialized cells in the heart that functions as a natural pacemaker. The SA node generates electrical impulses that start each heartbeat. These signals travel from the SA node to the rest of the heart, signaling the heart (cardiac) muscle to contract and pump blood. In people with sick sinus syndrome, the SA node does not function normally, which usually causes the heartbeat to be too slow (bradycardia), although occasionally the heartbeat is too fast (tachycardia) or rapidly switches from being too fast to being too slow (tachycardia-bradycardia syndrome). Symptoms related to abnormal heartbeats can include dizziness, light-headedness, fainting (syncope), a sensation of fluttering or pounding in the chest (palpitations), and confusion or memory problems. During exercise, many affected individuals experience chest pain, difficulty breathing, or excessive tiredness (fatigue). In intestinal pseudo-obstruction, impairment of peristalsis leads to a buildup of partially digested food in the intestines, abdominal swelling (distention) and pain, nausea, vomiting, and constipation or diarrhea. Affected individuals experience loss of appetite and impaired ability to absorb nutrients, which may lead to malnutrition. These symptoms resemble those caused by an intestinal blockage (obstruction) such as a tumor, but in intestinal pseudo-obstruction no such blockage is found.","Curated_Disease_Description_Source__c":"MONDO:0014528","GARD_Synonym__c":"caid; caid (chronic atrial and intestinal dysrhythmia) syndrome; caid syndrome; chronic atrial and intestinal dysrhythmia syndrome; chronic atrial dysrhythmia-intestinal motility disorder","Name":"Chronic atrial and intestinal dysrhythmia","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Association of Gastrointestinal Motility Disorders","Website__c":"https://www.agmdhope.org/"},{"Account_Name__c":"American Heart Association","Website__c":"https://www.heart.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":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"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":"Adolescent","Provided_By__c":"ORPHA:435988"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:435988"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:435988"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C4015474"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012281","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=863911","Source__c":"C4015474","Xref__c":"MEDGEN:863911"},{"URL__c":"https://www.orpha.net/en/disease/detail/435988","Source__c":"C4015474; MONDO:0014528; ORPHA:435988","Xref__c":"ORPHA:435988"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4015474","Source__c":"C4015474","Xref__c":"C4015474"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=720507006","Source__c":"C4015474; MONDO:0014528","Xref__c":"720507006"},{"URL__c":"https://www.omim.org/entry/616201","Source__c":"C4015474; MONDO:0014528; ORPHA:435988","Xref__c":"OMIM:616201"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060339","Source__c":"MONDO:0014528","Xref__c":"DOID:0060339"},{"URL__c":"https://medlineplus.gov/genetics/condition/chronic-atrial-and-intestinal-dysrhythmia","Source__c":"GARD:0012281","Xref__c":"https://medlineplus.gov/genetics/condition/chronic-atrial-and-intestinal-dysrhythmia"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014528","Source__c":"GARD:0012281","Xref__c":"MONDO:0014528"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SGO1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/sgo1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:616201","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A ventricular escape rhythm occurs whenever higher-lever pacemakers in AV junction or sinus node fail to control ventricular activation. Escape rate is usually 20-40 bpm, often associated with broad QRS complexes (at least 120 ms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005155","HPO_Synonym__c":"Idioventricular escape rhythm","HPO_Name__c":"Ventricular escape rhythm","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616201","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":"OMIM:616201","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001647","HPO_Synonym__c":"Aortic valve has two leaflets rather than three","HPO_Name__c":"Bicuspid aortic valve","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616201","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616201","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally low body weight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004325","HPO_Synonym__c":"Decreased body weight; Decreased weight; Low body weight; Low weight; Weight less than 3rd percentile","HPO_Name__c":"Decreased body weight","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616201","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increase in size of the left atrium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031295","HPO_Synonym__c":"Enlarged heart left atrium","HPO_Name__c":"Left atrial enlargement","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616201","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011704","HPO_Synonym__c":"Sinoatrial node disease","HPO_Name__c":"Sick sinus syndrome","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616201","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A functional rather than mechanical obstruction of the intestines, associated with manifestations that resemble those caused by an intestinal obstruction, including distension, abdominal pain, nausea, vomiting, constipation or diarrhea, in an individual in whom a mechanical blockage has been excluded.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004389","HPO_Synonym__c":"Intestinal pseudoobstruction","HPO_Name__c":"Intestinal pseudo-obstruction","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616201","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001653","HPO_Synonym__c":"Mitral incompetence; Mitral insufficiency; Mitral valve insufficiency; Mitral valve regurgitation","HPO_Name__c":"Mitral regurgitation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616201","HPO_Frequency__c":"Occasional (5-29%)","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:616201","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:616201","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001642","HPO_Synonym__c":"Narrowing of pulmonic valve; Pulmonary stenosis; Pulmonary valve stenosis; Pulmonic valve stenosis","HPO_Name__c":"Pulmonic stenosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology"],"Specialist":["Genetics","Cardiology","Gastroenterology","Clinical Cardiac Electrophysiology","Pediatrics"]},"synonyms":["caid"," caid (chronic atrial and intestinal dysrhythmia) syndrome"," caid syndrome"," chronic atrial and intestinal dysrhythmia syndrome"," chronic atrial dysrhythmia-intestinal motility disorder"]}