ASAH1-related sphingolipidosis
A spectrum of disorders caused by variation(s) in the ASAH1 genel this spectrum includes Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. The ASAH1 gene encodes the lysosomal hydrolase that breaks down the bioactive lipid, ceramide.
MONDO:0019255
sphingolipidosis
is_a
ASAH1-related disorders
exact
ASAH1-related sphingolipidosis
exact
acid ceramidase deficiency
narrow