Version: 8.0.0
Date: Tue Jan 28 2025
combined saposin deficiency
DOID:0111330
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

combined saposin deficiency

Definition
A sphingolipidosis characterized by absence of expression of both isoforms of PSAP (SAP1 and SAP2) resulting in hepatosplenomegaly and severe neurological disease that has_material_basis_in homozygous or compound heterozygous mutation in PSAP on 10q22.1.
Synonyms
  • combined SAP deficiency
  • encephalopathy due to prosaposin deficiency
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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