Phenotypes associated with the disease Hereditary ATTR amyloidosis (ORPHA:271861):
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:271861)
- Gastroparesis (HP:0002578): Decreased strength of the muscle layer of stomach, which leads to a decreased ability to empty the contents of the stomach despite the absence of obstruction. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:271861)
- Skeletal muscle atrophy (HP:0003202): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:271861)
- Orthostatic hypotension due to autonomic dysfunction (HP:0004926). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:271861)
- Sensorimotor neuropathy (HP:0007141). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:271861)
- 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:271861)
- 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:271861)
- Abnormal autonomic nervous system physiology (HP:0012332): A functional abnormality of the autonomic nervous system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:271861)
- Heart block (HP:0012722): Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:271861)
- 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: Frequent (HP:0040282). (ORPHA:271861)
- Vitreous floaters (HP:0100832): Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humor, which is normally transparent. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:271861)
- 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:271861)
- 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:271861)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:271861)
- Weight loss (HP:0001824): Reduction of total body weight. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:271861)
- Lumbar spinal canal stenosis (HP:0004610): An abnormal narrowing of the lumbar spinal canal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:271861)
- Foot dorsiflexor weakness (HP:0009027): Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:271861)
- Impaired temperature sensation (HP:0010829): A reduced ability to discriminate between different temperatures. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:271861)
- Cerebral amyloid angiopathy (HP:0011970): Amyloid deposition in the walls of leptomeningeal and cortical arteries, arterioles, and less often capillaries and veins of the central nervous system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:271861)
- Pain (HP:0012531): An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:271861)
- Abnormal pupil shape (HP:0025309): A deviation from the normal circular shape of the pupil. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:271861)
- Acroparesthesia (HP:0031006): A type of paresthesia (tingling, pins-and-needles, burning or numbness or stiffness) that occurs in the hands and feet and particularly in the fingers and toes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:271861)
- Wrist drop (HP:0031189): A condition in which the affected individual cannot extend the wrist, which hangs flaccidly. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:271861)
- Hypoesthesia (HP:0033748): Decreased ability to perceive touch. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:271861)
- Tendon rupture (HP:0100550): Breakage (tear) of a tendon. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:271861)
- Urinary retention (HP:0000016): Inability to completely empty the urinary bladder during the process of urination. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:271861)
- Nephropathy (HP:0000112): A nonspecific term referring to disease or damage of the kidneys. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:271861)
- Glaucoma (HP:0000501): Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:271861)
- Impotence (HP:0000802): Inability to develop or maintain an erection of the penis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:271861)
- Anhidrosis (HP:0000970): Inability to sweat. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:271861)
- Keratoconjunctivitis sicca (HP:0001097): Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:271861)
- 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: Frequent (HP:0040282). (ORPHA:271861)
- Left ventricular hypertrophy (HP:0001712): Enlargement or increased size of the heart left ventricle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:271861)
- Restrictive cardiomyopathy (HP:0001723): Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:271861)
- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:271861)
- Nausea and vomiting (HP:0002017): Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:271861)