Total 59 clinical symptoms reported for Fabry disease
| Abdominal pain |
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.
Synonyms:Abdominal pain; Pain in stomach; Stomach pain |
Very frequent |
| Anemia |
A reduction in erythrocytes volume or hemoglobin concentration.
Synonyms:Anaemia; Low number of red blood cells or hemoglobin |
Very frequent |
| Angiokeratoma |
A vascular lesion defined histologically as one or more dilated blood vessels lying directly subepidermal and showing an epidermal proliferative reaction. Clinically, angiokeratoma presents as a small, raised, dark-red spot.
Synonyms:Angiokeratomas |
Very frequent |
| Arthralgia |
Joint pain.
Synonyms:Arthralgias; Joint pain |
Very frequent |
| Arthritis |
Inflammation of a joint.
Synonyms:Arthritis; Joint inflammation |
Very frequent |
| Congestive heart failure |
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.
Synonyms:Cardiac failure; Cardiac failures; Cardiac insufficiency; CHF; Chronic heart failure; Heart failure |
Very frequent |
| Conjunctival telangiectasia |
The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva.
Synonyms:Conjunctival telangiectases; Small dilated blood vessels near membrane covering front of eye and eyelids; Telangiectasia, conjunctival |
Very frequent |
| Corneal dystrophy |
An abnormality of the cornea that is characterized by opacity of one or parts of the cornea.
|
Very frequent |
| Corneal opacity |
A reduction of corneal clarity.
Synonyms:Corneal clouding; Corneal opacities; Reduction of corneal clarity; Scarring or clouding of the cornea of the eye |
Very frequent |
| Fatigue |
A subjective feeling of tiredness characterized by a lack of energy and motivation.
Synonyms:Fatigue; Tired; Tiredness |
Very frequent |
| Hearing impairment |
A decreased magnitude of the sensory perception of sound.
Synonyms:Deafness; Hearing defect; Hearing impairment; Hypacusis |
Very frequent |
| Hyperkeratosis |
Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.
|
Very frequent |
| Hypohidrosis |
Abnormally diminished capacity to sweat.
Synonyms:Decreased ability to sweat; Decreased sweating; Inadequate sweating; Oligohidrosis; Sweating, decreased |
Very frequent |
| Malabsorption |
Impaired ability to absorb one or more nutrients from the intestine.
Synonyms:Intestinal malabsorption; Malabsorption |
Very frequent |
| Mucosal telangiectasiae |
Telangiectasia of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs.
|
Very frequent |
| Myalgia |
Pain in muscle.
Synonyms:Muscle ache; Muscle pain |
Very frequent |
| Nephrotic syndrome |
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.
Synonyms:Nephrosis |
Very frequent |
| Renal insufficiency |
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.
Synonyms:Renal failure; Renal failure in adulthood |
Very frequent |
| Subcutaneous nodule |
Slightly elevated lesions on or in the skin with a diameter of over 5 mm.
Synonyms:Firm lump under the skin; Growth of abnormal tissue under the skin |
Very frequent |
| Telangiectasia of the skin |
Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions.
Synonyms:Teleangiectasia of the skin |
Very frequent |
| Transient ischemic attack |
Synonyms:Mini stroke; TIA; Transient ischemic attacks |
Very frequent |