PSAP-related sphingolipidosis

MONDO:0100517

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.

1 clinical trial for this condition and its sub-types, 0 tagged with PSAP-related sphingolipidosis itself.

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Where it sits in the disease tree

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↑ Sphingolipidosis (166)

Sub-types of PSAP-related sphingolipidosis

Gaucher disease due to saposin C deficiency 1 trial
Krabbe disease due to saposin A deficiency 0 trials
Combined PSAP deficiency 0 trials
Metachromatic leukodystrophy due to saposin B deficiency 0 trials

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

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