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Farber disease

Disease definition

Farber disease is a rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement.

ORPHA:333

  • Synonym(s):
    • Acid ceramidase deficiency
    • Farber lipogranulomatosis
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal, Childhood, Antenatal
  • ICD-10: E75.2
  • OMIM: 228000
  • UMLS: C0268255  C2936785
  • MeSH: C537075  D055577
  • GARD: 6426
  • MedDRA: -

Additional information

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