ASAH1-related sphingolipidosis

MONDO:0100524

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.

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.

Follow this condition to get notified about new trials

Where it sits in the disease tree

Browse by category →

Part of

↑ Sphingolipidosis (166)

Sub-types of ASAH1-related sphingolipidosis

Farber lipogranulomatosis 1 trial
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome 0 trials

Including sub-types (1) Tagged with ASAH1-related sphingolipidosis (0)

We haven't found any trials for this condition yet. Follow it to get notified when new trials appear.