Fabry disease
MeSH: D000795ORPHA: 324
Overview
rare human genetic lysosomal storage disorder
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Fabry disease, sourced from HPO and Orphanet clinical annotations.
Renal insufficiencyNephrotic syndromeHearing impairmentConjunctival telangiectasiaHematuriaHyperkeratosisHypohidrosisAngiokeratomaCorneal dystrophyArthritisSubcutaneous noduleCongestive heart failureAnemiaMalabsorptionAbdominal painTransient ischemic attackArthralgiaMyalgiaAbnormal glycosphingolipid metabolismCorneal opacityFatigueElevated circulating globotriaosylceramide concentrationDecreased alpha-galactosidase A activityMucosal telangiectasiaeTelangiectasia of the skinAbnormal renal tubule morphologyProteinuriaNephropathyThick lower lip vermilionCoarse facial featuresTinnitusCataractOptic atrophyAtypical behaviorDelayed pubertyAbnormal aortic valve morphologyMitral regurgitationAtrioventricular blockNausea and vomitingAnorexiaHeat intoleranceEmphysemaHyperlipidemiaAbnormal circulating lipid concentrationExercise intoleranceShort statureBundle branch blockChronic painAcroparesthesiaCognitive impairmentCornea verticillataSensorineural hearing impairmentDepressionAnxietyHypertensionDiabetes insipidusLymphedemaSeizureStrokeAbnormal myocardium morphologyHypertrophic cardiomyopathyAngina pectorisLeft ventricular hypertrophyFeverRespiratory insufficiencyDyspneaVertigoDevelopmental regressionAchalasiaAbnormal femur morphologyAbnormal endocardium morphologyReduced bone mineral densityChronic pulmonary obstructionArrhythmiaGlomerulopathyHyperhidrosis
Classification & Codes
MeSH Code
D000795Orphanet Code
ORPHA:324Fabry disease
| MeSH | D000795 |
| Orphanet | ORPHA:324 |
| Treatments | 0 drug(s) |
| Symptoms on record | 76 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO