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Fabry Disease MeSH Descriptor Data 2022


MeSH Heading
Fabry Disease
Tree 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
C18.452.584.563.641.803.300
C18.452.648.189.435.825.200
C18.452.648.398.641.803.300
C18.452.648.595.554.825.200
Unique ID
D000795
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D000795
Annotation
do not confuse entry term ANDERSON-FABRY DISEASE with ANDERSEN'S DISEASE
Scope Note
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.
Entry Version
FABRY DIS
Entry Term(s)
Anderson-Fabry Disease
Angiokeratoma Corporis Diffusum
Angiokeratoma Diffuse
Angiokeratoma, Diffuse
Ceramide Trihexosidase Deficiency
Fabry's Disease
GLA Deficiency
Hereditary Dystopic Lipidosis
alpha-Galactosidase A Deficiency
alpha-Galactosidase A Deficiency Disease
NLM Classification #
QU 265.5.L5
Previous Indexing
Angiokeratoma (1966-1972)
See Also
alpha-Galactosidase
Ceramides
Public MeSH Note
1999; see FABRY'S DISEASE 1992-1998; see ANGIOKERATOMA CORPORIS DIFFUSUM 1973-1991; for FABRY'S DISEASE see ANGIOKERATOMA CORPORIS DIFFUSUM 1974-1991
History Note
1999(1973)
Date Established
1973/01/01
Date of Entry
1999/01/01
Revision Date
2021/07/01
Fabry Disease Preferred
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