| Disease/Concept | Identifier type | Identifier/value | Notes (inheritance, subtype, comments) | Source |
|---|---|---|---|---|
| Gaucher disease due to saposin C deficiency | MIM/OMIM disease ID | 610539 | Rare PSAP-related Gaucher-like disorder; autosomal recessive; can phenocopy type 1 or type 3 Gaucher disease; standard Orphanet/MONDO/MeSH/ICD identifiers were not found in the evidence (pqac-00000005, pqac-00000010) | Genes 2022; Mol Genet Metab 2012 |
| Variant Gaucher disease due to saposin C deficiency | Synonym | variant Gaucher disease due to saposin C deficiency | Historical/alternative phrasing for PSAP saposin C deficiency causing Gaucher-like disease (pqac-00000011, pqac-00000013) | Somatic Cell Mol Genet 1993; Hum Mol Genet 2014 |
| Atypical Gaucher disease due to PSAP | Synonym | atypical Gaucher disease due to PSAP | Used for PSAP-associated Gaucher spectrum with phenotypic heterogeneity, including visceral and neurologic manifestations (pqac-00000002, pqac-00000005) | Genes 2022 |
| PSAP gene | MIM/OMIM gene ID | 176801 | Encodes prosaposin, precursor of saposins A-D; biallelic pathogenic variants can cause saposin C deficiency or broader prosaposin deficiency (pqac-00000005, pqac-00000013) | Genes 2022; Hum Mol Genet 2014 |
| GBA gene | MIM/OMIM gene ID | 606463 | Encodes glucocerebrosidase/GCase; canonical Gaucher disease gene; SapC is its essential activator/cofactor (pqac-00000005, pqac-00000010, pqac-00000013) | Genes 2022; Mol Genet Metab 2012; Hum Mol Genet 2014 |
| Gaucher disease type 1 | MIM/OMIM disease ID | 230800 | Non-neuronopathic Gaucher reference subtype; SapC deficiency may clinically resemble type 1 in some patients (pqac-00000010, pqac-00000013) | Mol Genet Metab 2012; Hum Mol Genet 2014 |
| Gaucher disease type 2 | MIM/OMIM disease ID | 230900 | Acute neuronopathic Gaucher reference subtype; cited in review context for GD classification (pqac-00000009) | Int J Mol Sci 2024 |
| Gaucher disease type 3 | MIM/OMIM disease ID | 231000 | Chronic neuronopathic Gaucher reference subtype; SapC deficiency often discussed as type 3-like/neuronopathic (pqac-00000010, pqac-00000009) | Mol Genet Metab 2012; Int J Mol Sci 2024 |
| Prosaposin deficiency | MIM/OMIM disease ID | 611721 | Distinct from isolated SapC deficiency; complete prosaposin deficiency affects all saposins and is typically more severe (pqac-00000010, pqac-00000012) | Mol Genet Metab 2012; Int J Mol Sci 2024 |
| Saposin C | Molecular concept | Essential activator of GCase | Derived from prosaposin; promotes GCase interaction with anionic lysosomal membranes and stabilizes enzyme activity/protein; deficiency can present despite normal in vitro GCase activity in some assays (pqac-00000010, pqac-00000016, pqac-00000023) | Mol Genet Metab 2012; Hum Mol Genet 2014 |
| Evidence base | Resource provenance | Aggregated disease literature plus individual case reports | Knowledge derives mainly from case reports/small families and mechanistic studies, not EHR-scale datasets; only a handful of patients have been reported worldwide (pqac-00000002, pqac-00000003) | Genes 2022; Mol Genet Metab 2012 |
| External identifiers not found in retrieved evidence | Identifier status | Orphanet/MONDO/MeSH/ICD not found | Absence here reflects retrieved evidence only and should not be interpreted as proof that no such identifiers exist in external databases (pqac-00000005, pqac-00000010, pqac-00000013) | Genes 2022; Mol Genet Metab 2012; Hum Mol Genet 2014 |


*Table: This table summarizes the key disease and gene identifiers, core synonyms, and classification facts for Gaucher disease due to saposin C deficiency. It is useful for normalizing nomenclature and linking PSAP-related disease concepts to canonical Gaucher disease subtypes.*