Human genes for Farber lipogranulomatosis
Farber lipogranulomatosis [DOID:0050464]
Farber disease (also known as Farber's lipogranulomatosis, ceramidase deficiency, "Fibrocytic dysmucopolysaccharidosis," and "Lipogranulomatosis":545) is an extremely rare autosomal recessive lysosomal storage disease that cause an accumulation of fatty material lipids leading to abnormalities in the joints, liver, throat, tissues and central nervous system. Normally, the enzyme ceramidase breaks down fatty material in the body’s cells. In Farber Disease, the gene responsible for making this enzyme is mutated. Hence, the fatty material is never broken down and, instead, accumulates in various parts of the body, leading to the signs and symptoms of this disorder.
Synonyms: Farber lipogranulomatosis, DOID:0050464, Acid Ceramidase Deficiency, Farber Disease, N-LAURYLSPHINGOSINE DEACYLASE DEFICIENCY ...