Search Ontology:
Human Disease

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 compound heterozygous mutation in PSAP on 10q22.1. (2)
References
Ontology
Human Disease   ( DOID:0111330 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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