Phenotypes associated with the disease Variant ABeta2M amyloidosis (ORPHA:314652):
- 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:314652)
- 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:314652)
- Chronic kidney disease (HP:0012622): Functional anomaly of the kidney persisting for at least three months. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:314652)
- Abnormality of the tongue (HP:0000157): Any abnormality of the tongue. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:314652)
- Spinal cord compression (HP:0002176): External mechanical compression of the spinal cord. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:314652)
- Pathologic fracture (HP:0002756): A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:314652)
- Arthralgia of the hip (HP:0003365): Joint pain affecting the hip. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:314652)
- Gastrointestinal infarctions (HP:0005244). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:314652)
- Sensorimotor neuropathy (HP:0007141). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:314652)
- Abnormal salivary gland morphology (HP:0010286): Any abnormality of the salivary glands, the exocrine glands that produce saliva. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:314652)
- Abnormal skeletal muscle morphology (HP:0011805): A structural abnormality of a skeletal muscle. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:314652)
- Cardiovascular calcification (HP:0011915): Abnormal calcification in the cardiovascular system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:314652)
- Multiple bony cystic lesions (HP:0012065): Presence of multiple cystic changes in multiple areas or multiple bones. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:314652)
- Hepatic amyloidosis (HP:0012280): A form of amyloidosis that affects the liver. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:314652)
- Cutaneous amyloidosis (HP:0012309): The presence of amyloid deposition in the superficial dermis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:314652)
- Abnormal autonomic nervous system physiology (HP:0012332): A functional abnormality of the autonomic nervous system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:314652)
- 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:314652)
- Abnormal vascular morphology (HP:0025015). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:314652)
- Shoulder pain (HP:0030834): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the shoulder. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:314652)
- Wrist pain (HP:0030836): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the wrist. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:314652)
- Knee pain (HP:0030839): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:314652)
- 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: Occasional (HP:0040283). (ORPHA:314652)
- Intestinal perforation (HP:0031368): A hole (perforation) in the wall of the intestine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:314652)
- Amyloidosis of peripheral nerves (HP:0100292): The presence of amyloid deposition in the nerves of the peripheral nervous system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:314652)