{"Name":"ATTRV122I amyloidosis","DiseaseID__c":"GARD:0016755","id":16755,"encodedName":"attrv122i-amyloidosis","IsDeleted":false,"Disease_Name_Full__c":"ATTRV122I amyloidosis","Xref_IDs__c":"715655000; C4275067; MEDGEN:907865; MONDO:0019441; ORPHA:85451","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":6,"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":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0019441","Disease_Description__c":"A rare hereditary Transthyretin (TTR)-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein.","GARD_Name__c":"ATTRV122I amyloidosis","GARD_Synonym__c":"attr cardiomyopathy; attrv122i-related amyloidosis; transthyretin amyloid cardiopathy; transthyretin related familial amyloid cardiomyopathy; transthyretin-related familial amyloid cardiomyopathy; ttr-related amyloid cardiomyopathy; ttr-related cardiac amyloidosis","Curated_Disease_Description_Source__c":"ORPHA:85451","Curated_Disease_Description__c":"Transthyretin (TTR)-related familial amyloidotic cardiomyopathy is a hereditary TTR-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:85451","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019441","ORPHANET_ID__c":"ORPHA:85451","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Amiloidosis attrv122i","Spanish_Description_Source__c":"ORPHA:85451","Spanish_Description__c":"Es una una forma hereditaria poco frecuente de amiloidosis ATTR caracterizada por afectación cardíaca predominante como resultado del depósito de TTR incorrectamente plegada como amiloide en el miocardio; también puede acompañarse de polineuropatía sensitivomotora/autonómica, aunque con menor frecuencia que en otras variantes de TTR.","Spanish_Disease_Name__c":"amiloidosis attrv122i","Spanish_GARD_Synonym__c":"amiloidosis asociada a attrv122i","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":"Transthyretin (TTR)-related familial amyloidotic cardiomyopathy is a hereditary TTR-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein.","Curated_Disease_Description_Source__c":"ORPHA:85451","GARD_Synonym__c":"attr cardiomyopathy; attrv122i-related amyloidosis; transthyretin amyloid cardiopathy; transthyretin related familial amyloid cardiomyopathy; transthyretin-related familial amyloid cardiomyopathy; ttr-related amyloid cardiomyopathy; ttr-related cardiac amyloidosis","Name":"ATTRV122I amyloidosis","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Hypertrophic Cardiomyopathy Association","Website__c":"https://www.4hcm.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":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Rheumatology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"Tag_Name__c":"Cardiomyopathy","Tag_Category__c":"Account","curated_tag_name":"Cardiomyopathy"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:85451"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1194","Source__c":"Gene Review","Xref__c":"NBK1194"},{"URL__c":"https://www.orpha.net/en/disease/detail/85451","Source__c":"C4275067; MONDO:0019441; ORPHA:85451","Xref__c":"ORPHA:85451"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4275067","Source__c":"C4275067","Xref__c":"C4275067"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715655000","Source__c":"C4275067; MONDO:0019441","Xref__c":"715655000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=907865","Source__c":"C4275067","Xref__c":"MEDGEN:907865"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019441","Source__c":"GARD:0016755","Xref__c":"MONDO:0019441"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TTR","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ttr","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:85451","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001907","HPO_Synonym__c":"Blood clot in blood vessel; Thromboembolic disease; Thromboembolic events","HPO_Name__c":"Thromboembolism","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85451","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:85451","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Injury to the median nerve caused by its entrapment at the wrist as it traverses through the carpal tunnel. Clinically, constrictive median neuropathy is characterized by pain, paresthesia, and weakness in the median nerve distribution of the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012185","HPO_Name__c":"Constrictive median neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85451","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012664","HPO_Synonym__c":"Reduced ejection fraction","HPO_Name__c":"Reduced left ventricular ejection fraction","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Imaging_Echocardiogram"}},{"Provided_By__c":"ORPHA:85451","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A generalized disorder of peripheral nerves.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001271","HPO_Synonym__c":"Peripheral nerve disease","HPO_Name__c":"Polyneuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85451","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001723","HPO_Name__c":"Restrictive cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85451","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Breakage (tear) of a tendon.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100550","HPO_Synonym__c":"Rupture of tendons; Ruptured tendon; Tendon rupture; Tendon/muscle rupture","HPO_Name__c":"Tendon rupture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85451","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A functional abnormality of the autonomic nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012332","HPO_Synonym__c":"Autonomic dysfunction; Autonomic dysregulation; Dysautonomia","HPO_Name__c":"Abnormal autonomic nervous system physiology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85451","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A structural anomaly of nerves of the enteric nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025028","HPO_Synonym__c":"Abnormality of enteric nervous system morphology","HPO_Name__c":"Abnormal enteric nervous system morphology","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85451","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009830","HPO_Synonym__c":"Peripheral nerve damage; Peripheral neuritis","HPO_Name__c":"Peripheral neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85451","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of tropnin T in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410174","HPO_Synonym__c":"Increased troponin T level in blood","HPO_Name__c":"Increased circulating troponin T concentration","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85451","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Extracellular deposition in cardiac tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030843","HPO_Synonym__c":"Amyloid cardiomyopathy","HPO_Name__c":"Cardiac amyloidosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85451","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001639","HPO_Synonym__c":"Cardiomyopathy, hypertrophic; Enlarged and thickened heart muscle; HCM","HPO_Name__c":"Hypertrophic cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85451","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of a stenosis (narrowing) of the aortic valve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001650","HPO_Synonym__c":"Aortic stenosis; Narrowing of aortic valve; Valvular aortic stenosis","HPO_Name__c":"Aortic valve stenosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85451","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of supraventricular tachycardia in which the atria are the principal site of electrophysiologic disturbance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001692","HPO_Name__c":"Atrial arrhythmia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85451","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An impairment of the electrical continuity between the atria and ventricles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005150","HPO_Name__c":"Abnormal atrioventricular conduction","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85451","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction in erythrocytes volume or hemoglobin concentration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001903","HPO_Synonym__c":"Anaemia; Low number of red blood cells or hemoglobin","HPO_Name__c":"Anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85451","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001297","HPO_Synonym__c":"Cerebral vascular events; Cerebrovascular accident; Stroke","HPO_Name__c":"Stroke","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85451","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal rhythm of the heart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003115","HPO_Synonym__c":"Abnormal ECG; Abnormal EKG; Abnormal electrocardiogram; EKG abnormality","HPO_Name__c":"Abnormal EKG","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Procedure_EKG"}},{"Provided_By__c":"ORPHA:85451","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal narrowing of the spinal canal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003416","HPO_Synonym__c":"Narrow spinal canal; Spinal stenosis","HPO_Name__c":"Spinal canal stenosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85451","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Enlargement or increased size of the heart left ventricle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001712","HPO_Synonym__c":"Heart left ventricle hypertrophy; Left ventricular wall hypertrophy","HPO_Name__c":"Left ventricular hypertrophy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85451","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011675","HPO_Synonym__c":"Abnormal heart rate; Arrhythmias; Cardiac arrhythmia; Cardiac arrhythmias; Cardiac rhythm disturbances; Heart rhythm disorders; Irregular heart beat; Irregular heartbeat","HPO_Name__c":"Arrhythmia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85451","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001640","HPO_Synonym__c":"Enlarged heart; Increased heart size","HPO_Name__c":"Cardiomegaly","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85451","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The concentration of NT-proBNP (= N-terminal pro-B-type natriuretic peptide, = N-terminal prohormone of brain natriuretic peptide) in the blood circulation is above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031185","HPO_Synonym__c":"Increased NT-proBNP level","HPO_Name__c":"Elevated circulating NT-proBNP concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:85451","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001681","HPO_Name__c":"Angina pectoris","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Cardiology","Ophthalmology","Rheumatology","Retinal","Neuromuscular medicine"],"Account":["Retinal","Cardiomyopathy"]},"synonyms":["attr cardiomyopathy"," attrv122i-related amyloidosis"," transthyretin amyloid cardiopathy"," transthyretin related familial amyloid cardiomyopathy"," transthyretin-related familial amyloid cardiomyopathy"," ttr-related amyloid cardiomyopathy"," ttr-related cardiac amyloidosis"]}