MeSH Browser

MeSH Supplementary: Fabry Disease, Cardiac Variant
Unique ID: C567062
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C567062
Registry Numbers: 0
Heading Mapped to: *Fabry Disease
Frequency: 60
Note: A form of Fabry Disease characterized by LEFT VENTRICULAR HYPERTROPHY that occurs in the sixth decade of life. It is associated with specific mutations, including Q279E and R301Q, in the GLA (ALPHA-GALACTOSIDASE) gene. OMIM: 300644.0008
Date of Entry: 2012/11/05
Revision Date: 2016/09/29

Fabry Disease, Cardiac Variant MeSH Supplementary Concept Data 2025