<unk>  is caused by variants in the ASAH1 gene. This gene codes for the acid ceramidase enzyme. Individuals with<unk>  have two copies of this gene that are not functioning properly leading to the enzyme deficiency. Over 73 different gene variants have been reported to cause<unk> . No definitive genotype-phenotype correlations are known.<unk>  is inherited in an autosomal recessive manner. Affected individuals inherit one copy of the gene that is not functioning properly from each parent. Each parent is a called a carrier and has one copy of the gene that is functioning properly and one that is not. Siblings of individuals with<unk>  have a 25% chance to also have<unk> , a 50% chance to be a carrier like the parents, and a 25% chance of being unaffected and not a carrier. The ASAH1 gene is also known to cause a condition called spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME).<unk>  and SMA-PME have been classified as separate disorders, however more recent case reports have identified some individuals with overlapping symptoms of both disorders. Some individuals with SMA symptoms without seizures have also been described.
Farber disease
Keshan disease
Akureyri disease
Batten disease
Borna disease
Menkes disease
Bosch-Boonstra-Schaaf optic atrophy syndrome
Karak syndrome