Farber disease (Farber lipogranulomatosis)

Pathology

• accumulation of ceramide in lysosomes

Genetics

• associated with defects in ASAH1 gene

Clinical manifestations

• subcutaneous lipid-loaded nodules
• excruciating pain in joints & extremities
• death by 3 years of age

More general terms

• enzyme deficiency
• developmental disorder

Database

• OMIM: https://mirror.omim.org/entry/228000