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.

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Where it sits in the disease tree

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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)

Not yet recruiting 1

New study aims to unmask hidden causes of childhood joint stiffness

Knowledge-focused Not yet recruiting

This study will look at 35 children with joint problems that are not caused by inflammation, such as stiffness or deformity. Researchers will use exams, lab tests, and imaging to find the true cause, which could be rare genetic conditions like mucopolysaccharidoses or osteogenesi…

Sponsor: Assiut University • Aim: Knowledge-focused

Last updated Jun 26, 2026 17:17 UTC

ASAH1-related sphingolipidosis

Where it sits in the disease tree

New study aims to unmask hidden causes of childhood joint stiffness