"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.
View timeline visualization
| Year | Major Topic | Minor Topic | Total |
|---|
| 1999 | 1 | 0 | 1 |
| 2003 | 3 | 0 | 3 |
| 2004 | 1 | 0 | 1 |
| 2005 | 2 | 1 | 3 |
| 2006 | 4 | 0 | 4 |
| 2007 | 2 | 0 | 2 |
| 2008 | 1 | 0 | 1 |
| 2009 | 3 | 0 | 3 |
| 2010 | 1 | 0 | 1 |
| 2013 | 2 | 0 | 2 |
| 2014 | 1 | 0 | 1 |
| 2015 | 3 | 0 | 3 |
| 2016 | 4 | 0 | 4 |
| 2018 | 1 | 0 | 1 |
| 2019 | 2 | 0 | 2 |
| 2020 | 3 | 0 | 3 |
| 2024 | 1 | 0 | 1 |
Below are the most recent publications written about "Fabry Disease" by people in Profiles.
-
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study. J Med Genet. 2024 May 21; 61(6):520-530.
-
Stroke and Chronic Kidney Disease in Fabry Disease. J Stroke Cerebrovasc Dis. 2021 Sep; 30(9):105423.
-
Long-term efficacy and safety of migalastat treatment in Fabry disease: 30-month results from the open-label extension of the randomized, phase 3 ATTRACT study. Mol Genet Metab. 2020 Sep - Oct; 131(1-2):219-228.
-
Quality of life and psychological functioning of pediatric and young adult patients with Gaucher disease, type 1. Am J Med Genet A. 2020 05; 182(5):1130-1142.
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Pegunigalsidase alfa, a novel PEGylated enzyme replacement therapy for Fabry disease, provides sustained plasma concentrations and favorable pharmacodynamics: A 1-year Phase 1/2 clinical trial. J Inherit Metab Dis. 2019 05; 42(3):534-544.
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Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial. Mol Genet Metab. 2019 05; 127(1):86-94.
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Lysosomal storage diseases. Nat Rev Dis Primers. 2018 10 01; 4(1):27.
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Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial. Orphanet J Rare Dis. 2018 04 27; 13(1):68.
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Human-Induced Pluripotent Stem Cell-Based Modeling of Cardiac Storage Disorders. Curr Cardiol Rep. 2017 03; 19(3):26.
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Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study. J Med Genet. 2017 04; 54(4):288-296.