Farber disease (also known as Farbers lipogranulomatosis, acid ceramidase deficiency, "Lipogranulomatosis", and ASAH1-related disorders) is an extremely rare, progressive, autosomal recessive lysosomal storage disease caused by a deficiency of the acid ceramidase enzyme. Acid ceramidase is responsible for breaking down ceramide into sphingosine and fatty acid. When the enzyme is deficient, this leads to an accumulation of fatty material (called ceramide) in the lysosomes of the cells, leading to the signs and symptoms of this disorder. Signs and Symptoms
The symptoms of Farber disease develop over time. The onset of symptoms and how quickly they progress vary from person to person.The most common symptoms include:
Bumps under the skin located at pressure points and joints, also called subcutaneous nodules, lipogranulomas, or granulomas
Swollen, painful joints with progressive limitation of range of motion resulting in contracture
Hoarse voice/cryOther symptoms observed in some individuals with Farber disease include:
Respiratory disease, e.g. lung infections, labored breathing, respiratory distress
Central nervous system disease, e.g. developmental delay, muscle weakness, seizures
Systemic inflammation
Failure to thrive
Bone disease, e.g. erosion of bone near joints, osteoporosis, peripheral osteolysis
Enlarged liver (hepatomegaly)
Eye disease, e.g. cherry-red spot, corneal opacities

Genetics
Farber disease is caused by variants in the ASAH1 gene. This gene codes for the acid ceramidase enzyme. Individuals with Farber disease have two copies of this gene that are not functioning properly leading to the enzyme deficiency. Over 73 different gene variants have been reported to cause Farber disease. No definitive genotype-phenotype correlations are known.Farber disease is inherited in an autosomal recessive manner.
Dysfunction can refer to:

Abnormality (behavior)
Dysfunctional family
Sexual dysfunction
Dysfunction (album), an album by the rock band Staind
Manifest and latent functions and dysfunctions (sociological theory)
Measurement dysfunction

See also
Malfunction (disambiguation)