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Disease Ontology Browser
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 compound heterozygous mutation in PSAP on 10q22.1.

Disease References using Mouse Models (2)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory