ASAH1-related sphingolipidosis
MONDO:0100524A 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.
Also known as: ASAH1-related disorders, ASAH1-related sphingolipidosis, acid ceramidase deficiency
1 clinical trial for this condition and its sub-types, 0 tagged with ASAH1-related sphingolipidosis itself.
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Sub-types of ASAH1-related sphingolipidosis
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Farber lipogranulomatosis 1 trial
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