Disease_Mapped_To_Gene
ASAH1 Gene
Cellosaurus Disease Terminology
Cellosaurus Terminology
Rare Non-Neoplastic Disorder
Farber Lipogranulomatosis
A very rare autosomal recessive metabolic disorder affecting lipid metabolism. It is caused by mutations in the ASAH1 gene and is characterized by fatty accumulation in the body tissues. Patients develop lipogranulomas in the skin and internal organs, edema and pain in the joints and a hoarse voice. It may be associated with intellectual disability.
C0268255
C84710
Cellosaurus
Disease or Syndrome
Farber Lipogranulomatosis
Farber Lipogranulomatosis
Lipid Metabolism Disorder