Phenotypes associated with the disease AApoAIV amyloidosis (ORPHA:439232):
- Elevated circulating creatinine concentration (HP:0003259): An increased amount of creatinine in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:439232)
- Abnormal renal medulla morphology (HP:0100957): Any structural abnormality of the medulla of the kidney. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:439232)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:439232)
- Renal amyloidosis (HP:0001917): A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:439232)
- Chronic kidney disease (HP:0012622): Functional anomaly of the kidney persisting for at least three months. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:439232)
- Abnormal cardiac ventricular function (HP:0030872): An abnormality of the cardiac ventricular function. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:439232)
- Renal interstitial amyloid deposits (HP:0032613): Deposition of amyloid in the interstitial tissue of the kidney. Amyloid is is made up of 10 nm (on average) fibrils that are most commonly composed of monoclonal light chains (AL), transthyretin (TTR), amd LECT2, or occur in the setting of long standing systemic inflammation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:439232)
- Proteinuria (HP:0000093): Increased levels of protein in the urine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:439232)
- Glomerular sclerosis (HP:0000096): Accumulation of scar tissue within the glomerulus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:439232)
- Diabetes mellitus (HP:0000819): A group of abnormalities characterized by hyperglycemia and glucose intolerance. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:439232)
- Hypertrophic cardiomyopathy (HP:0001639): 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. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:439232)
- Coronary artery atherosclerosis (HP:0001677): Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:439232)
- Left ventricular hypertrophy (HP:0001712): Enlargement or increased size of the heart left ventricle. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:439232)
- Hyperlipidemia (HP:0003077): An elevated lipid concentration in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:439232)
- Back pain (HP:0003418): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:439232)
- Chronic pulmonary obstruction (HP:0006510): An anomaly that is characterized progressive airflow obstruction that is only partly reversible, inflammation in the airways, and systemic effects or comorbities. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:439232)
- Abnormality of the gastrointestinal tract (HP:0011024): An abnormality of the gastrointestinal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:439232)
- Left bundle branch block (HP:0011713): A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:439232)
- Reduced left ventricular ejection fraction (HP:0012664): A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:439232)
- Paraproteinemia (HP:0031047): An abnormal immunoglobulin or part of an Ig (light chain) in the circulation. Paraproteins are typically produced by a clonal population of B-cell derived plasma cells. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:439232)
- Cardiac conduction abnormality (HP:0031546): Any anomaly of the progression of electrical impulses through the heart. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:439232)
- Left ventricular outflow tract obstruction (HP:0032092): Left ventricular outflow tract (LVOT) obstruction can occur at the valvular, subvalvular, or supravalvular level. In general, there is an obstruction to forward flow which increases afterload, and if untreated, can result in hypertrophy, dilatation, and eventual failure of the left ventricle. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:439232)
- Paroxysmal nocturnal dyspnea (HP:0034807): Attacks of breathlessness that occur at night and may awaken the sleeping patient. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:439232)
- Sinus bradycardia (HP:0001688): Bradycardia related to a mean resting sinus rate of less than 50 beats per minute. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:439232)
- Abnormal lung morphology (HP:0002088): Any structural anomaly of the lung. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:439232)
- Supravalvular aortic stenosis (HP:0004381): A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:439232)
- Atrial flutter (HP:0004749): 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. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:439232)
- Atrial fibrillation (HP:0005110): 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. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:439232)
- Cutaneous amyloidosis (HP:0012309): The presence of amyloid deposition in the superficial dermis. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:439232)
- Cardiac amyloidosis (HP:0030843): 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. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:439232)