Phenotypes associated with the disease Wild type ATTR amyloidosis (ORPHA:330001):
- Congestive heart failure (HP:0001635): 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. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:330001)
- 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: Very frequent (HP:0040281). (ORPHA:330001)
- Myocardial infarction (HP:0001658): Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:330001)
- Pleural effusion (HP:0002202): The presence of an excessive amount of fluid in the pleural cavity. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:330001)
- Abnormal EKG (HP:0003115): Abnormal rhythm of the heart. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:330001)
- Abnormal pulmonary interstitial morphology (HP:0006530): Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:330001)
- Pedal edema (HP:0010741): An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:330001)
- Cardiac transthyretin amyloid deposition (HP:0031327): A type of cardiac amyloidosis related to deposition of transthyretin (TTR), which is identified by immunohistochemical staining. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:330001)
- Pulmonary edema (HP:0100598): Fluid accumulation in the lungs. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:330001)
- Sensory neuropathy (HP:0000763): Peripheral neuropathy affecting the sensory nerves. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:330001)
- Chronic diarrhea (HP:0002028): The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:330001)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:330001)
- Intermittent diarrhea (HP:0002254): Repeated episodes of diarrhea separated by periods without diarrhea. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:330001)
- Impaired vibratory sensation (HP:0002495): A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:330001)
- Gastrointestinal dysmotility (HP:0002579): Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:330001)
- Bowel incontinence (HP:0002607): Involuntary fecal soiling in adults and children who have usually already been toilet trained. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:330001)
- Elevated circulating alkaline phosphatase concentration (HP:0003155): Abnormally increased serum levels of alkaline phosphatase activity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:330001)
- Orthostatic hypotension due to autonomic dysfunction (HP:0004926). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:330001)
- 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: Frequent (HP:0040282). (ORPHA:330001)
- Autonomic bladder dysfunction (HP:0005341): Abnormal bladder function (increased urge or frequency of urination or urge incontinence) resulting from abnormal functioning of the autonomic nervous system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:330001)
- Arrhythmia (HP:0011675): 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. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:330001)
- Constrictive median neuropathy (HP:0012185): 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. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:330001)
- Abnormal autonomic nervous system physiology (HP:0012332): A functional abnormality of the autonomic nervous system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:330001)
- Decreased/absent ankle reflexes (HP:0200101). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:330001)
- Renal insufficiency (HP:0000083): A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:330001)
- Proteinuria (HP:0000093): Increased levels of protein in the urine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:330001)
- Nephrotic syndrome (HP:0000100): Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:330001)
- Nephropathy (HP:0000112): A nonspecific term referring to disease or damage of the kidneys. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:330001)
- Aortic valve stenosis (HP:0001650): The presence of a stenosis (narrowing) of the aortic valve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:330001)
- Bradycardia (HP:0001662): A slower than normal heart rate (in adults, slower than 60 beats per minute). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:330001)
- Weight loss (HP:0001824): Reduction of total body weight. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:330001)
- Spinal canal stenosis (HP:0003416): An abnormal narrowing of the spinal canal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:330001)