Phenotypes associated with the disease AA amyloidosis (ORPHA:85445):
- Proteinuria (HP:0000093): Increased levels of protein in the urine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85445)
- Nephropathy (HP:0000112): A nonspecific term referring to disease or damage of the kidneys. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85445)
- 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: Very frequent (HP:0040281). (ORPHA:85445)
- Hypotension (HP:0002615): Low Blood Pressure, vascular hypotension. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85445)
- Amyloid deposition (HP:0011034): Pathologic deposits of specific fibrillar protein aggregates with distinct microscopic properties, particularly affinity for the dye Congo red with typical birefringence. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85445)
- 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: Frequent (HP:0040282). (ORPHA:85445)
- Enlarged kidney (HP:0000105): An abnormal increase in the size of the kidney. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85445)
- Cholestasis (HP:0001396): Impairment of bile flow due to obstruction in bile ducts. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85445)
- Vomiting (HP:0002013): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85445)
- Nausea (HP:0002018): A sensation of unease in the stomach together with an urge to vomit. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85445)
- Malabsorption (HP:0002024): Impaired ability to absorb one or more nutrients from the intestine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85445)
- Abdominal pain (HP:0002027): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85445)
- 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:85445)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85445)
- Malnutrition (HP:0004395): A deficiency in the intake of energy and nutrients. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85445)
- Venous thrombosis (HP:0004936): Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85445)
- Abnormal oral mucosa morphology (HP:0011830): Abnormality of the oral mucosa. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85445)
- Chronic kidney disease (HP:0012622): Functional anomaly of the kidney persisting for at least three months. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85445)
- 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:85445)
- Goiter (HP:0000853): An enlargement of the thyroid gland. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:85445)
- Orthostatic hypotension (HP:0001278): A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:85445)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:85445)
- Acute kidney injury (HP:0001919): Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:85445)
- Abnormal left ventricular function (HP:0005162): Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:85445)
- Peripheral neuropathy (HP:0009830): 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. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:85445)
- 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: Occasional (HP:0040283). (ORPHA:85445)
- Decreased QRS voltage (HP:0025077): Reduced amplitude (height) of the QRS complex of the electrocardiogram (EKG), defined as amplitudes of all the QRS complexes in the limb leads are less than 5 mm or amplitudes of all the QRS complexes in the precordial leads less than 10 mm. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:85445)
- Jaw claudication (HP:0030164): Pain in the jaw or ear induced by chewing or otherwise moving the jaw. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:85445)
- Macroglossia (HP:0000158): Increased length and width of the tongue. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:85445)
- Hypothyroidism (HP:0000821): Deficiency of thyroid hormone. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:85445)
- Adrenal insufficiency (HP:0000846): Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:85445)
- 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:85445)