OBO ID: DOID:0111330
Term Name: combined saposin deficiency Search Ontology:
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:
Ontology: Human Disease   ( DOID:0111330 )
OTHER combined saposin deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PSAP Combined SAP deficiency 611721
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None