combined saposin deficiency

Term ID

DOID:0111330

Synonyms

• combined SAP deficiency
• encephalopathy due to prosaposin deficiency
• PSAPD

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 coumpound heterozygous mutation in PSAP on 10q22.1. (2)

References

• MESH:C567125
• OMIM:611721
• ORDO:139406

Ontology

Human Disease   ( DOID:0111330 )