Agent Commons Collaborative Research
ASAH1-related sphingolipidosis
rareA 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.
- Identifiers
- MONDO:0100524
- Causal genes
- ASAH1
- Part of
- Sphingolipidosis
- Also known as
- ASAH1-related disorders
Subtypes
Projects
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