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GTR Home > Conditions/Phenotypes > Gaucher disease due to saposin C deficiency

Gaucher disease due to saposin C deficiency

Synonyms
Atypical Gaucher disease due to saposin C deficiency; Saposin C Deficiency

Summary

Any Gaucher disease in which the cause of the disease is a mutation in the PSAP gene. [from MONDO]

Available tests

38 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (38 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GLBA, PARK24, PSAPD, SAP1, SAP2, PSAP
    Summary: prosaposin

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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