Diseases

Fabry Disease

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.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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.

MeSH Record

Classification

Broader headings

Related Concepts

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MeSH Record

See Also

MeSH Record

Synonyms

18 entry terms
  • 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
  • Anderson Fabry Disease
  • Deficiency, Ceramide Trihexosidase
  • Deficiency, GLA
  • Deficiency, alpha-Galactosidase A
  • Diffuse Angiokeratoma
  • Lipidosis, Hereditary Dystopic
  • alpha Galactosidase A Deficiency
  • alpha Galactosidase A Deficiency Disease

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

Indexing Annotation

do not confuse entry term ANDERSON-FABRY DISEASE with ANDERSEN'S DISEASE

MeSH Record

History Note

1999(1973)

MeSH Record

Previous Indexing

  • Angiokeratoma (1966-1972)

MeSH Hierarchy

Tree Numbers

  1. C10w.228w.140w.163.100.435.825w.200w
  2. C10w.228w.140w.300w.275.374w
  3. C14w.907w.253w.329.374w
  4. C16w.320w.322.124w
  5. C16w.320w.565w.189.435.825w.200w
  6. C16w.320w.565w.398w.641w.803w.300w
  7. C16w.320w.565w.595w.554.825w.200w
  8. C18.452w.132.100.435.825w.200w
  9. C18.452w.584w.563w.641w.803w.300w
  10. C18.452w.648w.189.435.825w.200w
  11. C18.452w.648w.398w.641w.803w.300w
  12. C18.452w.648w.595w.554.825w.200w

MeSH Record

NLM Classification

QU 265.5.L5

AMA Style

References

  1. National Library of Medicine. Fabry Disease. Medical Subject Headings (MeSH). 2026. Unique ID D000795. http://id.nlm.nih.gov/mesh/2026/D000795
  2. Fabry Disease. In: Wikipedia. https://en.wikipedia.org/wiki/Fabry_disease
  3. Fabry Disease. In: Wikidata. https://www.wikidata.org/wiki/Q615645