Fabry Disease

"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.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

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

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]
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 related to "Fabry Disease".

Below are MeSH descriptors whose meaning is more specific than "Fabry Disease".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Fabry Disease" by people in Harvard Catalyst Profiles by year, and whether "Fabry Disease" was a major or minor topic of these publication.

Bar chart showing 64 publications over 19 distinct years, with a maximum of 8 publications in 2023

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
1999	1	0	1
2001	3	0	3
2002	7	0	7
2004	3	0	3
2005	1	2	3
2007	1	0	1
2008	3	0	3
2009	4	1	5
2010	3	0	3
2012	2	1	3
2013	3	1	4
2014	4	0	4
2016	2	1	3
2017	1	0	1
2018	2	0	2
2019	4	0	4
2021	4	1	5
2022	1	0	1
2023	8	0	8

Below are the most recent publications written about "Fabry Disease" by people in Profiles.

Gastrointestinal Sensory Neuropathy and Dysmotility in Fabry Disease: Presentations and Effect on Patient's Quality of Life. Clin Transl Gastroenterol. 2023 Dec 01; 14(12):e00633.

View in: PubMed
Radiosynthesis and Early Evaluation of a Positron Emission Tomography Imaging Probe [18F]AGAL Targeting Alpha-Galactosidase A Enzyme for Fabry Disease. Molecules. 2023 Oct 18; 28(20).

View in: PubMed
Cluster analysis of kidney function decline among males with Fabry disease in a large United States electronic health records database. Nephrol Dial Transplant. 2023 09 29; 38(10):2350-2357.

View in: PubMed
c.376A>G, (p.Ser126Gly) Alpha-Galactosidase A mutation induces ER stress, unfolded protein response and reduced enzyme trafficking to lysosome: Possible relevance in the pathogenesis of late-onset forms of Fabry Disease. Mol Genet Metab. 2023 11; 140(3):107700.

View in: PubMed
Phenotypes of undiagnosed adults with actionable OTC and GLA variants. HGG Adv. 2023 10 12; 4(4):100226.

View in: PubMed
All reported non-canonical splice site variants in GLA cause aberrant splicing. Clin Exp Nephrol. 2023 Sep; 27(9):737-746.

View in: PubMed
Global reach of over 20 years of experience in the patient-centered Fabry Registry: Advancement of Fabry disease expertise and dissemination of real-world evidence to the Fabry community. Mol Genet Metab. 2023 07; 139(3):107603.

View in: PubMed
Striking a balance in Fabry disease research: Mitigating the statistical dilemma arising from small sample size and modest event frequency in rare disorders. Int J Cardiol. 2023 08 01; 384:52-53.

View in: PubMed
Clinical outcomes among young patients with Fabry disease who initiated agalsidase beta treatment before 30 years of age: An analysis from the Fabry Registry. Mol Genet Metab. 2023 02; 138(2):106967.

View in: PubMed
A new approach to identifying patients with elevated risk for Fabry disease using a machine learning algorithm. Orphanet J Rare Dis. 2021 12 20; 16(1):518.

View in: PubMed

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