combined saposin deficiency (DOID:0111330)
Alliance: disease page
Synonyms: combined SAP deficiency; encephalopathy due to prosaposin deficiency; PSAPD
Alt IDs: OMIM:611721, MESH:C567125, ORDO:139406
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.