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Summary Literature (0)
DOID:0111330 - combined saposin deficiency

Disease Ontology 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, PSAPD

Xenbase Genes : psap


MIM:
MIM:611721 - COMBINED SAPOSIN DEFICIENCY; PSAPD

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): sphingolipidosis (is_a)