MeSH Browser

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: 2023/08/25

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

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]
        
        Farber Lipogranulomatosis [C10.228.140.163.100.435.825.250]
        
        Gangliosidoses [C10.228.140.163.100.435.825.300]
        
        Gaucher Disease [C10.228.140.163.100.435.825.400]
        
        Leukodystrophy, Globoid Cell [C10.228.140.163.100.435.825.590]
        
        Niemann-Pick Diseases [C10.228.140.163.100.435.825.700]
        
        Sea-Blue Histiocyte Syndrome [C10.228.140.163.100.435.825.775]
        
        Sulfatidosis [C10.228.140.163.100.435.825.850]

Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
  - Brain Diseases [C10.228.140]
    - Cerebrovascular Disorders [C10.228.140.300]
      - Cerebral Small Vessel Diseases [C10.228.140.300.275]
        
        CADASIL [C10.228.140.300.275.249]
        
        Cerebral Amyloid Angiopathy, Familial [C10.228.140.300.275.311]
        
        Fabry Disease [C10.228.140.300.275.374]
        
        MELAS Syndrome [C10.228.140.300.275.500]
        
        Microscopic Polyangiitis [C10.228.140.300.275.600]
        
        Stroke, Lacunar [C10.228.140.300.275.800]

Cardiovascular Diseases [C14]
- Vascular Diseases [C14.907]
  - Cerebrovascular Disorders [C14.907.253]
    - Cerebral Small Vessel Diseases [C14.907.253.329]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Genetic Diseases, X-Linked [C16.320.322]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - 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]
        
        Farber Lipogranulomatosis [C16.320.565.189.435.825.250]
        
        Gangliosidoses [C16.320.565.189.435.825.300]
        
        Gaucher Disease [C16.320.565.189.435.825.400]
        
        Leukodystrophy, Globoid Cell [C16.320.565.189.435.825.590]
        
        Niemann-Pick Diseases [C16.320.565.189.435.825.700]
        
        Sea-Blue Histiocyte Syndrome [C16.320.565.189.435.825.775]
        
        Sulfatidosis [C16.320.565.189.435.825.850]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Metabolism, Inborn Errors [C16.320.565]
    - 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]
        
        Farber Lipogranulomatosis [C16.320.565.398.641.803.325]
        
        Gangliosidoses [C16.320.565.398.641.803.350]
        
        Gaucher Disease [C16.320.565.398.641.803.441]
        
        Leukodystrophy, Globoid Cell [C16.320.565.398.641.803.585]
        
        Niemann-Pick Diseases [C16.320.565.398.641.803.730]
        
        Sea-Blue Histiocyte Syndrome [C16.320.565.398.641.803.850]
        
        Sulfatidosis [C16.320.565.398.641.803.925]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Metabolism, Inborn Errors [C16.320.565]
    - 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]
        
        Farber Lipogranulomatosis [C16.320.565.595.554.825.250]
        
        Gangliosidoses [C16.320.565.595.554.825.300]
        
        Gaucher Disease [C16.320.565.595.554.825.400]
        
        Leukodystrophy, Globoid Cell [C16.320.565.595.554.825.590]
        
        Niemann-Pick Diseases [C16.320.565.595.554.825.700]
        
        Sea-Blue Histiocyte Syndrome [C16.320.565.595.554.825.775]
        
        Sulfatidosis [C16.320.565.595.554.825.850]

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]
        
        Farber Lipogranulomatosis [C18.452.132.100.435.825.250]
        
        Gangliosidoses [C18.452.132.100.435.825.300]
        
        Gaucher Disease [C18.452.132.100.435.825.400]
        
        Leukodystrophy, Globoid Cell [C18.452.132.100.435.825.590]
        
        Niemann-Pick Diseases [C18.452.132.100.435.825.700]
        
        Sea-Blue Histiocyte Syndrome [C18.452.132.100.435.825.775]
        
        Sulfatidosis [C18.452.132.100.435.825.850]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Lipid Metabolism Disorders [C18.452.584]
    - Lipid Metabolism, Inborn Errors [C18.452.584.563]
      - Lipidoses [C18.452.584.563.641]
        
        Sphingolipidoses [C18.452.584.563.641.803]
        
        Fabry Disease [C18.452.584.563.641.803.300]
        
        Farber Lipogranulomatosis [C18.452.584.563.641.803.325]
        
        Gangliosidoses [C18.452.584.563.641.803.350]
        
        Gaucher Disease [C18.452.584.563.641.803.441]
        
        Leukodystrophy, Globoid Cell [C18.452.584.563.641.803.585]
        
        Niemann-Pick Diseases [C18.452.584.563.641.803.730]
        
        Sea-Blue Histiocyte Syndrome [C18.452.584.563.641.803.850]
        
        Sulfatidosis [C18.452.584.563.641.803.925]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - 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]
        
        Farber Lipogranulomatosis [C18.452.648.189.435.825.250]
        
        Gangliosidoses [C18.452.648.189.435.825.300]
        
        Gaucher Disease [C18.452.648.189.435.825.400]
        
        Leukodystrophy, Globoid Cell [C18.452.648.189.435.825.590]
        
        Niemann-Pick Diseases [C18.452.648.189.435.825.700]
        
        Sea-Blue Histiocyte Syndrome [C18.452.648.189.435.825.775]
        
        Sulfatidosis [C18.452.648.189.435.825.850]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - 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]
        
        Farber Lipogranulomatosis [C18.452.648.398.641.803.325]
        
        Gangliosidoses [C18.452.648.398.641.803.350]
        
        Gaucher Disease [C18.452.648.398.641.803.441]
        
        Leukodystrophy, Globoid Cell [C18.452.648.398.641.803.585]
        
        Niemann-Pick Diseases [C18.452.648.398.641.803.730]
        
        Sea-Blue Histiocyte Syndrome [C18.452.648.398.641.803.850]
        
        Sulfatidosis [C18.452.648.398.641.803.925]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - 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]
        
        Farber Lipogranulomatosis [C18.452.648.595.554.825.250]
        
        Gangliosidoses [C18.452.648.595.554.825.300]
        
        Gaucher Disease [C18.452.648.595.554.825.400]
        
        Leukodystrophy, Globoid Cell [C18.452.648.595.554.825.590]
        
        Niemann-Pick Diseases [C18.452.648.595.554.825.700]
        
        Sea-Blue Histiocyte Syndrome [C18.452.648.595.554.825.775]
        
        Sulfatidosis [C18.452.648.595.554.825.850]

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.
Terms: Fabry Disease Preferred Term
Term UI T002358
Date01/01/1999
LexicalTag EPO
ThesaurusID; Anderson-Fabry Disease
Term UI T002359
Date09/12/1990
LexicalTag EPO
ThesaurusID; alpha-Galactosidase A Deficiency Disease
Term UI T647662
Date08/01/2005
LexicalTag NON
ThesaurusID NLM (2007); alpha-Galactosidase A Deficiency
Term UI T752796
Date06/15/2009
LexicalTag NON
ThesaurusID; Angiokeratoma, Diffuse
Term UI T781486
Date12/01/2010
LexicalTag NON
ThesaurusID; Ceramide Trihexosidase Deficiency
Term UI T781487
Date12/01/2010
LexicalTag NON
ThesaurusID; Hereditary Dystopic Lipidosis
Term UI T781488
Date12/01/2010
LexicalTag NON
ThesaurusID; Angiokeratoma Diffuse
Term UI T841352
Date04/18/2013
LexicalTag NON
ThesaurusID; GLA Deficiency
Term UI T843439
Date05/01/2013
LexicalTag ABX
ThesaurusID; Fabry's Disease
Term UI T002357
Date03/12/1998
LexicalTag EPO
ThesaurusID; Angiokeratoma Corporis Diffusum
Term UI T002356
Date09/12/1990
LexicalTag NON
ThesaurusID

Fabry Disease MeSH Descriptor Data 2025