What is Fabry's Disease?
What is Fabry's Disease?
- Fabry's Disease: Genetic fat storage disorder.
- Fabry's Disease: Lysosomal storage disease caused by a deficiency of alpha-galactosidase A and resulting in an accumulation of globotriaosylceramide in the renal and cardiovascular systems. The disease is X-linked and is characterized by telangiectatic skin lesions, renal failure, and disturbances of the cardiovascular, gastrointestinal, and central nervous systems.
Source - Diseases Database
Fabry's Disease is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Fabry's Disease, or a subtype of Fabry's Disease,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Fabry's Disease as a "rare disease".
Source - Orphanet
Fabry's Disease: Introduction
Types of Fabry's Disease:
Types of Fabry's Disease:
- Fabry's Disease of female carrier - milder form in some carrier females
- more types...»
How many people get Fabry's Disease?
Prevalance of Fabry's Disease: rare
How serious is Fabry's Disease?
Complications of Fabry's Disease:
see complications of Fabry's Disease
Prognosis of Fabry's Disease:
Patients with Fabry's disease usually survive into
adulthood, but they are at risk for strokes, heart attacks, and kidney
damage. It is anticipated that enzyme replacement and eventually gene
therapy will eliminate these difficulties.
(Source: excerpt from NINDS Fabry's Disease Information Page: NINDS)
What causes Fabry's Disease?
Causes of Fabry's Disease: see causes of Fabry's Disease
Cause of Fabry's Disease: Genetic defect in an enzyme that breaks down lipids and therefore interferes with fat storage.
What are the symptoms of Fabry's Disease?
Symptoms of Fabry's Disease:
see symptoms of Fabry's Disease
Complications of Fabry's Disease:
see complications of Fabry's Disease
Can anyone else get Fabry's Disease?
Inheritance of genetic conditions: see details in inheritance of genetic diseases.
How is it treated?
Treatments for Fabry's Disease:
see treatments for Fabry's Disease
Research for Fabry's Disease:
see research for Fabry's Disease
Name and Aliases of Fabry's Disease
Main name of condition: Fabry's Disease
Class of Condition for Fabry's Disease: genetic x-linked
Other names or spellings for Fabry's Disease:
diffuse angiokeratoma, Ceramide trihexosidosis, Angiokeratoma, diffuse, Anderson-Fabry disease, Hereditary dystopic lipidosis, Alpha-galactosidase A deficiency, GLA deficiency, Angiokeratoma Corporis Diffusum, Ceramide Trihexosidase deficiency
Alpha-galactosidase A deficiency, Anderson-Fabry disease, Angiokeratoma corporis diffusum universale, Ceramide trihexosidase deficiency
Source - Diseases Database
Alpha-galactosidase A deficiency, Anderson-Fabry disease, Angiokeratoma, diffuse, GLA deficiency, Hereditary dystopic lipidosis
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)
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Prevalence and Incidence of Fabry's Disease
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