Synonym(s): - Alpha-galactosidase A deficiency - Anderson-Fabry disease - Angiokeratoma corporis diffusum - Diffuse angiokeratoma - FD
Classification (Orphanet): - Inborn errors of metabolism - Rare cardiac disease - Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare renal disease - Rare skin disease Entire classification		Classification (ICD10): - Endocrine, nutritional and metabolic diseases - See
Epidemiological data: Class of prevalence: 1-5 / 10 000 Average age onset: childhood Average age of death: adult Type of inheritance: x-linked recessive		External references: 1 OMIM reference - See 1 MeSH reference: D000795
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
GLA	P06280	300644

- Acute abdominal pain / colic
- Anaemia
- Arthritis / synovitis / synovial proliferation
- Articular / joint pain / arthralgia
- Asthenia / fatigue / weakness
- Conjunctival telangiectasia
- Corneal clouding / opacity / vascularisation
- Corneal dystrophy
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Follicular / erythematous / edematous papules / milium
- Hearing loss / hypoacusia / deafness
- Heart / cardiac failure
- Hematuria / microhematuria
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance
- Malabsorption / chronic diarrhea / steatorrhea
- Myalgia / muscular pain
- Nephrotic syndrome
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Renal failure
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Telangiectasiae of mucosae
- Telangiectasiae of the skin
- Transient cerebral ischemia / stroke
- Vascular anomalies of skin / mucosae
- X-linked recessive inheritance

- Anorexia
- Aortic valve atresia / stenosis / narrowing / supra-aortic / supra-valvular stenosis
- Cardiac conduction defect / sinoauricular / heart / auriculoventricular / branch block
- Cataract / lens opacification
- Coarse face
- Emphysema
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Late puberty / hypogonadism / hypogenitalism
- Lipidosis / sulfatidosis
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Proteinuria
- Psychic / behavioural troubles
- Renal disease / nephropathy
- Renal tubular defect / tubulopathy
- Short stature / dwarfism / nanism
- Thick lips

- Angor pectoris / myocardial infarction
- Cardiac rhythm disorder / arrhythmia
- Cardiomyopathy / hypertrophic / dilated
- Chronic arterial hypertension
- Chronic obstructive pulmonary disease / COPD / obstructive respiratory syndrome
- Diabetes insipidus
- Dizziness
- Endocardium anomalies / fibroelastosis / endocarditis
- Femur anomaly / absence / agenesis / hypoplasia / bifurcation
- Fever / chilling
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hyperesthesia / allodynia / hyperalgia
- Lymphedema
- Myocardium anomalies / myocarditis
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Psychic / psychomotor regression / dementia / intellectual decline
- Renal glomerular defect / glomerulopathy
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sensorineural deafness / hearing loss