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It is not a pooled estimate for the umbrella condition."}],"comparison":{"collapseColumnsLabel":"Show initial comparisons","defaultColumnKeys":["MONDO:0010526/OMIM:301500","MONDO:0010526/ORPHA:324"],"expandColumnsLabel":"Compare all source entries","intro":"Compare the original source entries. Different entries may describe different patient groups.","primaryFeatureIds":[],"scopeNoteHtml":"

Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.

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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"

Fabry disease is caused by variants (also known as mutations) in the GLA gene. This gene provides instructions for making an enzyme called alpha-galactosidase A. This enzyme is active in lysosomes, which are structures that serve as recycling centers within cells. Alpha-galactosidase A normally breaks down a fatty substance called globotriaosylceramide. Variants in the GLA gene alter the structure and function of the enzyme, preventing it from breaking down this substance effectively. As a result, globotriaosylceramide builds up in cells throughout the body, particularly cells lining blood vessels in the skin and cells in the kidneys, heart, and nervous system. The progressive accumulation of this substance damages cells, leading to the varied signs and symptoms of Fabry disease.

GLA gene variants that result in an absence of alpha-galactosidase A activity lead to the classic, severe form of Fabry disease. Variants that decrease but do not eliminate the enzyme's activity usually cause the milder, late-onset forms of Fabry disease that typically affect only the heart, kidneys, or blood vessels in the brain.

MedlinePlus Genetics: Causes

","key":"forms","title":"What causes Fabry disease?"},{"bodyHtml":"

Fabry disease also involves potentially life-threatening complications such as progressive kidney failure, heart failure, and stroke. Some affected individuals have milder forms of the disorder that appear later in life and typically involve only the heart, kidneys, or blood vessels in the brain.

Source: MedlinePlus Genetics

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