| Descriptor English: | Fabry Disease | ||||||
| Descriptor Spanish: |
Enfermedad de Fabry
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| 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 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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| 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 |
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| 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. |
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| Annotation: | do not confuse entry term ANDERSON-FABRY DISEASE with ANDERSEN'S DISEASE |
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| 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 |
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| Previous Indexing: |
Angiokeratoma (1966-1972) |
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| 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 |
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| History Note: | 1999(1973) |
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| Entry Version: | FABRY DIS |
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| Related: |
Ceramides
MeSH alpha-Galactosidase MeSH | ||||||
| DeCS ID: | 30299 | ||||||
| Unique ID: | D000795 | ||||||
| NLM Classification: | WD 205.5.L5 | ||||||
| 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: | 2023/04/05 |
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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 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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