"Fabry Disease" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
| Descriptor ID |
D000795
|
| MeSH Number(s) |
C10.228.140.163.100.435.825.200 C10.228.140.300.275.374 C14.907.253.329.374 C16.320.322.124 C16.320.565.189.435.825.200 C16.320.565.398.641.803.300 C16.320.565.595.554.825.200 C18.452.132.100.435.825.200 C18.452.584.687.803.300 C18.452.648.189.435.825.200 C18.452.648.398.641.803.300 C18.452.648.595.554.825.200
|
| Concept/Terms |
Fabry Disease- Fabry Disease
- alpha-Galactosidase A Deficiency Disease
- alpha Galactosidase A Deficiency Disease
- Anderson-Fabry Disease
- Anderson Fabry Disease
- Angiokeratoma Corporis Diffusum
- Angiokeratoma Diffuse
- Ceramide Trihexosidase Deficiency
- Deficiency, Ceramide Trihexosidase
- Fabry's Disease
- GLA Deficiency
- Deficiency, GLA
- Hereditary Dystopic Lipidosis
- Lipidosis, Hereditary Dystopic
- alpha-Galactosidase A Deficiency
- Deficiency, alpha-Galactosidase A
- alpha Galactosidase A Deficiency
- Angiokeratoma, Diffuse
- Diffuse Angiokeratoma
|
Below are MeSH descriptors whose meaning is more general than "Fabry Disease".
- Diseases [C]
- Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
- Brain Diseases [C10.228.140]
- Brain Diseases, Metabolic [C10.228.140.163]
- Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
- Lysosomal Storage Diseases, Nervous System [C10.228.140.163.100.435]
- Sphingolipidoses [C10.228.140.163.100.435.825]
- Fabry Disease [C10.228.140.163.100.435.825.200]
- Cerebrovascular Disorders [C10.228.140.300]
- Cerebral Small Vessel Diseases [C10.228.140.300.275]
- Fabry Disease [C10.228.140.300.275.374]
- Cardiovascular Diseases [C14]
- Vascular Diseases [C14.907]
- Cerebrovascular Disorders [C14.907.253]
- Cerebral Small Vessel Diseases [C14.907.253.329]
- Fabry Disease [C14.907.253.329.374]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Genetic Diseases, X-Linked [C16.320.322]
- Fabry Disease [C16.320.322.124]
- Metabolism, Inborn Errors [C16.320.565]
- Brain Diseases, Metabolic, Inborn [C16.320.565.189]
- Lysosomal Storage Diseases, Nervous System [C16.320.565.189.435]
- Sphingolipidoses [C16.320.565.189.435.825]
- Fabry Disease [C16.320.565.189.435.825.200]
- Lipid Metabolism, Inborn Errors [C16.320.565.398]
- Lipidoses [C16.320.565.398.641]
- Sphingolipidoses [C16.320.565.398.641.803]
- Fabry Disease [C16.320.565.398.641.803.300]
- Lysosomal Storage Diseases [C16.320.565.595]
- Lysosomal Storage Diseases, Nervous System [C16.320.565.595.554]
- Sphingolipidoses [C16.320.565.595.554.825]
- Fabry Disease [C16.320.565.595.554.825.200]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Brain Diseases, Metabolic [C18.452.132]
- Brain Diseases, Metabolic, Inborn [C18.452.132.100]
- Lysosomal Storage Diseases, Nervous System [C18.452.132.100.435]
- Sphingolipidoses [C18.452.132.100.435.825]
- Fabry Disease [C18.452.132.100.435.825.200]
- Lipid Metabolism Disorders [C18.452.584]
- Lipidoses [C18.452.584.687]
- Sphingolipidoses [C18.452.584.687.803]
- Fabry Disease [C18.452.584.687.803.300]
- Metabolism, Inborn Errors [C18.452.648]
- Brain Diseases, Metabolic, Inborn [C18.452.648.189]
- Lysosomal Storage Diseases, Nervous System [C18.452.648.189.435]
- Sphingolipidoses [C18.452.648.189.435.825]
- Fabry Disease [C18.452.648.189.435.825.200]
- Lipid Metabolism, Inborn Errors [C18.452.648.398]
- Lipidoses [C18.452.648.398.641]
- Sphingolipidoses [C18.452.648.398.641.803]
- Fabry Disease [C18.452.648.398.641.803.300]
- Lysosomal Storage Diseases [C18.452.648.595]
- Lysosomal Storage Diseases, Nervous System [C18.452.648.595.554]
- Sphingolipidoses [C18.452.648.595.554.825]
- Fabry Disease [C18.452.648.595.554.825.200]
Below are MeSH descriptors whose meaning is more specific than "Fabry Disease".
This graph shows the total number of publications written about "Fabry Disease" by people in this website by year, and whether "Fabry Disease" was a major or minor topic of these publications.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2002 | 1 | 0 | 1 |
| 2020 | 1 | 0 | 1 |
To return to the timeline,
click here.
Below are the most recent publications written about "Fabry Disease" by people in Profiles.
-
Stokes ES, Gilchrist ML, Calhoun DH. Prediction of improved therapeutics for fabry disease patients generated by mutagenesis of the a-galactosidase A active site, dimer interface, and glycosylation region. Protein Expr Purif. 2020 11; 175:105710.
-
Luciano CA, Russell JW, Banerjee TK, Quirk JM, Scott LJ, Dambrosia JM, Barton NW, Schiffmann R. Physiological characterization of neuropathy in Fabry's disease. Muscle Nerve. 2002 Nov; 26(5):622-9.