Concept information
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Metabolism, Inborn Errors
Lysosomal Storage Diseases
Lysosomal Storage Diseases, Nervous System
Sphingolipidoses
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Metabolism, Inborn Errors
Lysosomal Storage Diseases
Lysosomal Storage Diseases, Nervous System
Sphingolipidoses
...
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Lysosomal Storage Diseases, Nervous System
Sphingolipidoses
...
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Lysosomal Storage Diseases, Nervous System
Sphingolipidoses
...
Metabolism, Inborn Errors
Brain Diseases, Metabolic, Inborn
Lysosomal Storage Diseases, Nervous System
Sphingolipidoses
...
Metabolism, Inborn Errors
Brain Diseases, Metabolic, Inborn
Lysosomal Storage Diseases, Nervous System
Sphingolipidoses
Preferred term
Fabry Disease
Type
-
Topical Descriptor
Broader concept
Entry terms
- alpha Galactosidase A Deficiency
- alpha-Galactosidase A Deficiency
- alpha Galactosidase A Deficiency Disease
- alpha-Galactosidase A Deficiency Disease
- Anderson Fabry Disease
- Anderson-Fabry Disease
- Angiokeratoma Corporis Diffusum
- Angiokeratoma Diffuse
- Angiokeratoma, Diffuse
- Ceramide Trihexosidase Deficiency
- Deficiency, alpha-Galactosidase A
- Deficiency, Ceramide Trihexosidase
- Deficiency, GLA
- Diffuse Angiokeratoma
- Fabry's Disease
- GLA Deficiency
- Hereditary Dystopic Lipidosis
- Lipidosis, Hereditary Dystopic
Note
- do not confuse entry term ANDERSON-FABRY DISEASE with ANDERSEN'S DISEASE
Scope note
- An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders.
History note
- 1999(1973)
In other languages
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Finnish
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angiokeratoma corporis diffusa
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Fabry
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morbus Fabry
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Swedish
URI
http://www.yso.fi/onto/mesh/D000795
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