Defects in the degradation of sphingomyelin [DS:H00424] Sphingolipidosis [DS:H00423] Lysosomal storage disease [DS:H01425]
Description
Farber lipogranulomatosis (FRBRL) is a rare autosomal recessive sphingolipid storage disorder due to the deficient activity of lysosomal acid ceramidase, leading to the accumulation of ceramide in cells and tissues.
Category
Inherited metabolic disorder, Lysosomal disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C56 Lysosomal diseases
H00138 Farber lipogranulomatosis
Pathway-based classification of diseases [BR:br08402]
Lipid/glycolipid metabolism
nt06014 Sphingolipid degradation
H00138 Farber lipogranulomatosis
