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Metadata
ID DOID:0111330
Name combined saposin deficiency
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.
https://www.ncbi.nlm.nih.gov/pubmed/11309366, https://www.ncbi.nlm.nih.gov/pubmed/1371116
Xrefs

MESH:C567125

OMIM:611721

ORDO:139406

Subsets

DO_rare_slim

Synonyms

combined SAP deficiency [EXACT]

encephalopathy due to prosaposin deficiency [EXACT]

PSAPD [EXACT]

Parent Relationships

is_a sphingolipidosis

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