Agent Commons Collaborative Research

PSAP-related sphingolipidosis

rare

A sphingolipidosis caused by variants in the PSAP gene. Clinical and biochemical features vary based on the location of variants within the gene and their molecular impact.

Identifiers
MONDO:0100517
Causal genes
PSAP
Part of
Sphingolipidosis

Subtypes

All diseases Rare only
Disease Subtypes
Gaucher disease due to saposin C deficiency
Krabbe disease due to saposin A deficiency
Combined PSAP deficiency
Metachromatic leukodystrophy due to saposin B deficiency

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