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Fabry's disease

disorder
SNOMED 16652001CUI C0002986

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Treatments & Interventions

Agalsidase beta

substance

Migalastat

substance

Migalastat hydrochloride

substance

Pegunigalsidase alfa

substance

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abdominal discomfort
Very frequent (80-99%)HP:0002027
Abnormal glycosphingolipid metabolism
Very frequent (80-99%)HP:0004343
Angiokeratomas
Very frequent (80-99%)HP:0001014
Arthralgias
Very frequent (80-99%)HP:0002829
Blood in urine
Very frequent (80-99%)HP:0000790
Corneal dystrophy
Very frequent (80-99%)HP:0001131
Corneal opacity
Very frequent (80-99%)HP:0007957
Elevated circulating ceramidetrihexoside concentration
Very frequent (80-99%)HP:0033595
Epidermal hyperkeratosis
Very frequent (80-99%)HP:0000962
Hearing impairment
Very frequent (80-99%)HP:0000365
Heart failure
Very frequent (80-99%)HP:0001635
Hypohidrosis
Very frequent (80-99%)HP:0000966
Intestinal malabsorption
Very frequent (80-99%)HP:0002024
Joint inflammation
Very frequent (80-99%)HP:0001369
Low number of red blood cells or haemoglobin
Very frequent (80-99%)HP:0001903
Mucosal telangiectasiae
Very frequent (80-99%)HP:0100579
Muscle pain
Very frequent (80-99%)HP:0003326
Nephrosis
Very frequent (80-99%)HP:0000100
Renal failure
Very frequent (80-99%)HP:0000083
Small dilated blood vessels near membrane covering front of eye and eyelids
Very frequent (80-99%)HP:0000524
Subcutaneous nodule
Very frequent (80-99%)HP:0001482
Teleangiectasia of the skin
Very frequent (80-99%)HP:0100585
Tiredness
Very frequent (80-99%)HP:0012378
Transient ischemic attacks
Very frequent (80-99%)HP:0002326
Abnormal aortic valve morphology
Frequent (30-79%)HP:0001646
Acroparesthesia
Frequent (30-79%)HP:0031006
Behavioural disorders
Frequent (30-79%)HP:0000708
Bundle branch block
Frequent (30-79%)HP:0011710
Cataract
Frequent (30-79%)HP:0000518
Chronic pain
Frequent (30-79%)HP:0012532

Related Conditions

Lipid storage disease(parent)
X-linked hereditary disease(parent)
Sphingolipidosis(parent)
Hereditary nephropathy(parent)
Cardiovascular system hereditary disorder(parent)
Metabolic renal disease(parent)
Inherited metabolic disorder of nervous system(parent)
Cerebrovascular disease(parent)

Quick Facts

SNOMED CT
16652001
UMLS CUI
C0002986
Fully Specified Name
Fabry's disease (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
30
Known Treatments
4
Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.