ASAH1-related sphingolipidosis
MONDO:0100524Mondo
Findings
No curated finding names ASAH1-related sphingolipidosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0100524), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ASAH1HGNC:735
- Definitive · ClinGen · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: ASAH1-related sphingolipidosis
- Also called
- ASAH1-related disorders