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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:0000605 | Supranuclear gaze palsy |
| HP:0004975 | Erlenmeyer flask deformity of the femurs |
| HP:0001971 | Hypersplenism |
