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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
combined saposin deficiency
Summary
- Synonym
-
- PSAPD
- combined SAP deficiency
- encephalopathy due to prosaposin 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.
- Super Class
- sphingolipidosis
External Links
- Disease Ontology
- DOID:0111330
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P07602 | Prosaposin |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001744 | Splenomegaly |
| HP:0001332 | Dystonia |
| HP:0002240 | Hepatomegaly |
| HP:0001252 | Hypotonia |
| HP:0002205 | Recurrent respiratory infections |
| HP:0001336 | Myoclonus |
| HP:0000496 | Abnormality of eye movement |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0002093 | Respiratory insufficiency |
| HP:0001522 | Death in infancy |
