Acid phosphatase deficiency

Synonyms: Lysosomal acid phosphatase deficiency

Summary

A rare lysosomal disease characterized by intermittent vomiting, hypotonia, lethargy, opisthotonos, and fatal outcome in early infancy, associated with deficient acid phosphatase in lysosomes. There have been no further descriptions in the literature since 1971. [from ORDO]

Available tests

4 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (4 available)

Molecular Genetics Tests

Sequence analysis of the entire coding region (4)

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

ACP2
12 tests
Also known as: LAP, ACP2
Summary: acid phosphatase 2, lysosomal

Reviews

Clinical resources

Molecular resources

Consumer resources

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