Phenotypes associated with the disease AH amyloidosis (ORPHA:442582):
- Nephropathy (HP:0000112): A nonspecific term referring to disease or damage of the kidneys. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:442582)
- Goiter (HP:0000853): An enlargement of the thyroid gland. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:442582)
- 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:442582)
- 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: Frequent (HP:0040282). (ORPHA:442582)
- 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: Frequent (HP:0040282). (ORPHA:442582)
- Elevated circulating NT-proBNP concentration (HP:0031185): 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. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:442582)
- Amyloidosis of peripheral nerves (HP:0100292): The presence of amyloid deposition in the nerves of the peripheral nervous system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:442582)
- 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:442582)