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GTR Home > Conditions/Phenotypes > Combined PSAP deficiency

Combined PSAP deficiency

Synonyms
COMBINED SAP DEFICIENCY; Combined saposin deficiency; Encephalopathy due to prosaposin deficiency; PROSAPOSIN DEFICIENCY
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Combined saposin deficiency (PSAPD), a deficiency of prosaposin and saposins A, B, C, and D, is a fatal infantile storage disorder with hepatosplenomegaly and severe neurologic disease (summary by Hulkova et al., 2001). [from OMIM]

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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