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atypical Gaucher's disease due to saposin c deficiency
Summary
- Definition
- A Gaucher's disease that has_material_basis_in compound heterozygous mutation in the PSAP gene on chromosome 10q22.1.
- Super Class
- Gaucher's disease
External Links
- Disease Ontology
- DOID:0110961
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04062 | Lysosomal acid glucosylceramidase | |
| P07602 | Prosaposin |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002240 | Hepatomegaly |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0003146 | Hypocholesterolemia |
| HP:0001873 | Thrombocytopenia |
| HP:0007334 | Bilateral tonic-clonic seizure with focal onset |
| HP:0000938 | Osteopenia |
| HP:0002133 | Status epilepticus |
| HP:0012432 | Chronic fatigue |
| HP:0001336 | Myoclonus |
| HP:0002376 | Developmental regression |
