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Descriptor English: Fabry Disease
Descriptor Spanish: Enfermedad de Fabry
Descriptor enfermedad de Fabry
Entry term(s) angioqueratoma corpóreo difuso
enfermedad de Anderson-Fabry
Scope note: Enfermedad por almacenamiento lisosómico causada por la deficiencia de alfa-galactosidasa A y que produce acumulación de globotriaosilceramida en los sistemas renal y cardiovascular. La enfermedad se vincula al cromosoma X y se caracteriza por lesiones telangiectásicas en la piel, insuficiencia renal y trastornos de los sistemas cardiovascular, gastrointestinal y nervioso central.
Descriptor Portuguese: Doença de Fabry
Descriptor French: Maladie de Fabry
Entry term(s): Anderson Fabry Disease
Anderson-Fabry Disease
Angiokeratoma Corporis Diffusum
Angiokeratoma Diffuse
Angiokeratoma, Diffuse
Ceramide Trihexosidase Deficiency
Deficiency, Ceramide Trihexosidase
Deficiency, GLA
Deficiency, alpha-Galactosidase A
Diffuse Angiokeratoma
Fabry's Disease
GLA Deficiency
Hereditary Dystopic Lipidosis
Lipidosis, Hereditary Dystopic
alpha Galactosidase A Deficiency
alpha Galactosidase A Deficiency Disease
alpha-Galactosidase A Deficiency
alpha-Galactosidase A Deficiency 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
C18.452.584.687.803.300
C18.452.648.189.435.825.200
C18.452.648.398.641.803.300
C18.452.648.595.554.825.200
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D000795
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.
Annotation: do not confuse entry term ANDERSON-FABRY DISEASE with ANDERSEN'S DISEASE
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Previous Indexing: Angiokeratoma (1966-1972)
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)
Entry Version: FABRY DIS
Related: Ceramides MeSH
alpha-Galactosidase MeSH
DeCS ID: 30299
Unique ID: D000795
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1973/01/01
Date of Entry: 1999/01/01
Revision Date: 2013/07/08
Fabry Disease - Preferred
Concept UI M0001191
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.
Preferred term Fabry Disease
Entry term(s) Anderson Fabry Disease
Anderson-Fabry Disease
Angiokeratoma Corporis Diffusum
Angiokeratoma Diffuse
Angiokeratoma, Diffuse
Ceramide Trihexosidase Deficiency
Deficiency, Ceramide Trihexosidase
Deficiency, GLA
Deficiency, alpha-Galactosidase A
Diffuse Angiokeratoma
Fabry's Disease
GLA Deficiency
Hereditary Dystopic Lipidosis
Lipidosis, Hereditary Dystopic
alpha Galactosidase A Deficiency
alpha Galactosidase A Deficiency Disease
alpha-Galactosidase A Deficiency
alpha-Galactosidase A Deficiency Disease



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