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Farber disease (Farber lipogranulomatosis)

Pathology: - accumulation of ceramide in lysosomes Genetics: - associated with defects in ASAH1 gene Clinical manifestations: 1) subcutaneous lipid-loaded nodules 2) excruciating pain in joints & extremities 3) death by 3 years of age

General

enzyme deficiency developmental disorder

Database Correlations

OMIM 228000

References

  1. UniProt :accession Q13510
  2. OMIM :accession 228000