| 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 compound heterozygous mutation in PSAP on 10q22.1. https://www.ncbi.nlm.nih.gov/pubmed/11309366, https://www.ncbi.nlm.nih.gov/pubmed/1371116 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
combined SAP deficiency [EXACT] encephalopathy due to prosaposin deficiency [EXACT] PSAPD [EXACT] |
| Parent Relationships |
is_a sphingolipidosis |