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GTR Home > Conditions/Phenotypes > HNSHA due to aldolase A deficiency

HNSHA due to aldolase A deficiency

Synonyms
Aldolase A Deficiency; GLYCOGEN STORAGE DISEASE XII; GSD XII; Glycogen storage disease due to aldolase A deficiency; Glycogen storage disease type 12; Red cell aldolase deficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Aldolase A deficiency is an autosomal recessive disorder associated with hereditary hemolytic anemia (Kishi et al., 1987). [from OMIM]

Available tests

50 tests are in the database for this condition.

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Clinical tests (49 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: ALDA, GSD12, HEL-S-87p, ALDOA
    Summary: aldolase, fructose-bisphosphate A

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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