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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 |
|---|---|---|
| P07602 | Prosaposin |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001744 | Splenomegaly |
| HP:0002653 | Bone pain |
| HP:0000666 | Horizontal nystagmus |
| HP:0006897 | Abducens palsy |
| HP:0002080 | Intention tremor |
| HP:0000508 | Ptosis |
| HP:0003148 | Elevated serum acid phosphatase |
| HP:0001903 | Anemia |
| HP:0011813 | Increased cerebral lipofuscin |
| HP:0001250 | Seizure |
