| Disease ID | Source | Name | Description |
| 611721 | OMIM | Combined saposin deficiency (CSAPD) | Due to absence of all saposins, leading to a fatal storage disorder with hepatosplenomegaly and severe neurological involvement. The disease is caused by variants affecting the gene represented in this entry. |
| 249900 | OMIM | Metachromatic leukodystrophy due to saposin-B deficiency (MLD-SAPB) | An atypical form of metachromatic leukodystrophy. It is characterized by tissue accumulation of cerebroside-3-sulfate, demyelination, periventricular white matter abnormalities, peripheral neuropathy. Additional neurological features include dysarthria, ataxic gait, psychomotor regression, seizures, cognitive decline and spastic quadriparesis. The disease is caused by variants affecting the gene represented in this entry. |
| 610539 | OMIM | Gaucher disease, atypical, due to saposin C deficiency (AGD) | A disease characterized by marked glucosylceramide accumulation in the spleen without having a deficiency of glucosylceramide-beta glucosidase characteristic of classic Gaucher disease. Gaucher disease is a lysosomal storage disorder characterized by skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement. The disease is caused by variants affecting the gene represented in this entry. |
| 611722 | OMIM | Krabbe disease, atypical, due to saposin A deficiency (AKRD) | A disorder of galactosylceramide metabolism. Clinical features include neurologic regression around age 3 months, loss of spontaneous movements, hyporeflexia, generalized brain atrophy, and diffuse white matter dysmyelination. The disease is caused by variants affecting the gene represented in this entry. |