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 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 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 this website by year, and whether "Fabry Disease" was a major or minor topic of these publications.

Bar chart showing 6 publications over 5 distinct years, with a maximum of 2 publications in 2017

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

Year	Major Topic	Minor Topic	Total
2005	0	1	1
2009	1	0	1
2010	1	0	1
2016	1	0	1
2017	2	0	2

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

Maron MS, Xin W, Sims KB, Butler R, Haas TS, Rowin EJ, Desnick RJ, Maron BJ. Identification of Fabry Disease in a Tertiary Referral Cohort of Patients with Hypertrophic Cardiomyopathy. Am J Med. 2018 02; 131(2):200.e1-200.e8.

View in: PubMed
Adalsteinsdottir B, Palsson R, Desnick RJ, Gardarsdottir M, Teekakirikul P, Maron M, Appelbaum E, Neisius U, Maron BJ, Burke MA, Chen B, Pagant S, Madsen CV, Danielsen R, Arngrimsson R, Feldt-Rasmussen U, Seidman JG, Seidman CE, Gunnarsson GT. Fabry Disease in Families With Hypertrophic Cardiomyopathy: Clinical Manifestations in the Classic and Later-Onset Phenotypes. Circ Cardiovasc Genet. 2017 Aug; 10(4).

View in: PubMed
Rost NS, Cloonan L, Kanakis AS, Fitzpatrick KM, Azzariti DR, Clarke V, Lourenco CM, Germain DP, Politei JM, Homola GA, Sommer C, ??eyler N, Sims KB. Determinants of white matter hyperintensity burden in patients with Fabry disease. Neurology. 2016 May 17; 86(20):1880-6.

View in: PubMed
Doldan-Silvero AM, Nunnemacher G, Germain M, Crisi GM. Electron microscopy in end stage renal disease: a case of Fabry's disease. Ultrastruct Pathol. 2010 Oct; 34(5):307-13.

View in: PubMed
Gange CA, Link MS, Maron MS. Utility of cardiovascular magnetic resonance in the diagnosis of Anderson-Fabry disease. Circulation. 2009 Sep 29; 120(13):e96-7.

View in: PubMed
Owens CL, Russell SD, Halushka MK. Histologic and electron microscopy findings in myocardium of treated Fabry disease. Hum Pathol. 2006 Jun; 37(6):764-8.

View in: PubMed
Arad M, Maron BJ, Gorham JM, Johnson WH, Saul JP, Perez-Atayde AR, Spirito P, Wright GB, Kanter RJ, Seidman CE, Seidman JG. Glycogen storage diseases presenting as hypertrophic cardiomyopathy. N Engl J Med. 2005 Jan 27; 352(4):362-72.

View in: PubMed
deVeber GA, Schwarting GA, Kolodny EH, Kowall NW. Fabry disease: immunocytochemical characterization of neuronal involvement. Ann Neurol. 1992 Apr; 31(4):409-15.

View in: PubMed

People

Explore

Similar Concepts

Top Journals