Clinical Signs and Symptoms
ORPHA:324 Fabry disease
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Abdominal pain HP:0002027
- Anemia HP:0001903
- Angiokeratoma HP:0001014
- Arthralgia HP:0002829
- Arthritis HP:0001369
- Congestive heart failure HP:0001635
- Conjunctival telangiectasia HP:0000524
- Corneal dystrophy HP:0001131
- Corneal opacity HP:0007957
- Fatigue HP:0012378
- Hearing impairment HP:0000365
- Hematuria HP:0000790
- Hyperkeratosis HP:0000962
- Hypohidrosis HP:0000966
- Malabsorption HP:0002024
- Mucosal telangiectasiae HP:0100579
- Myalgia HP:0003326
- Nephrotic syndrome HP:0000100
- Renal insufficiency HP:0000083
- Subcutaneous nodule HP:0001482
- Telangiectasia of the skin HP:0100585
- Transient ischemic attack HP:0002326
Very frequent
- Abnormal aortic valve morphology HP:0001646
- Abnormal circulating lipid concentration HP:0003119
- Abnormal renal tubule morphology HP:0000091
- Anorexia HP:0002039
- Atrioventricular block HP:0001678
- Behavioral abnormality HP:0000708
- Bundle branch block HP:0011710
- Cataract HP:0000518
- Coarse facial features HP:0000280
- Cognitive impairment HP:0100543
- Delayed puberty HP:0000823
- Emphysema HP:0002097
- Hyperlipidemia HP:0003077
- Mitral regurgitation HP:0001653
- Nausea and vomiting HP:0002017
- Nephropathy HP:0000112
- Optic atrophy HP:0000648
- Proteinuria HP:0000093
- Short stature HP:0004322
- Thick lower lip vermilion HP:0000179
Frequent
- Abnormal myocardium morphology HP:0001637
- Abnormality of femur morphology HP:0002823
- Abnormality of the endocardium HP:0004306
- Achalasia HP:0002571
- Angina pectoris HP:0001681
- Anxiety HP:0000739
- Arrhythmia HP:0011675
- Chronic obstructive pulmonary disease HP:0006510
- Depressivity HP:0000716
- Developmental regression HP:0002376
- Diabetes insipidus HP:0000873
- Dyspnea HP:0002094
- Fever HP:0001945
- Glomerulopathy HP:0100820
- Hypertension HP:0000822
- Hypertrophic cardiomyopathy HP:0001639
- Left ventricular hypertrophy HP:0001712
- Lymphedema HP:0001004
- Reduced bone mineral density HP:0004349
- Respiratory insufficiency HP:0002093
- Seizures HP:0001250
- Sensorineural hearing impairment HP:0000407
- Vertigo HP:0002321
Occasional
Additional information
Further information
Specialised Social Services
Warning
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.