GTR Home > Conditions/Phenotypes > Farber's lipogranulomatosis

Summary

Farber lipogranulomatosis is an autosomal recessive lysosomal storage disorder characterized by early-onset subcutaneous nodules, painful and progressively deformed joints, and hoarseness by laryngeal involvement. Based on the age of onset, the severity of symptoms, and the difference in organs affected, 6 clinical subtypes due to deficiency of acid ceramidase have been distinguished. The most severe form is subtype 4, a rare neonatal form of the disease with death occurring before 1 year of age (summary by Alves et al., 2013). [from OMIM]

Available tests

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Check Associated genes and Related conditions for additional relevant tests.

Associated genes

  • Also known as: HSD33, AC, ACDase, ASAH, PHP, PHP32, SMAPME, ASAH1
    Summary: N-acylsphingosine amidohydrolase (acid ceramidase) 1

Clinical features

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  • Irritability
  • Splenomegaly
  • Short stature
  • Respiratory insufficiency
  • Intellectual disability
  • Kyphosis
  • Cognitive impairment
  • Opacification of the corneal stroma
  • Amyotrophy
  • Recurrent respiratory infections
  • Arthralgia
  • Nystagmus
  • Cherry red spot of the macula
  • Failure to thrive
  • Reduced bone mineral density
  • Hoarse cry
  • Nephropathy
  • Abnormality of the skin
  • Abnormality of the macula
  • Motor delay
  • Arthritis
  • Limitation of joint mobility
  • Joint swelling
  • Laryngomalacia
  • Abnormality of the voice
  • Pulmonary fibrosis
  • Hepatomegaly
  • Periarticular subcutaneous nodules
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