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Lethal congenital glycogen storage disease of heart

Synonyms
GLYCOGEN STORAGE DISEASE OF HEART; PHOSPHORYLASE KINASE DEFICIENCY OF HEART
Modes of inheritance
Not genetically inherited (Orphanet)

Summary

A rare glycogen storage disease with fetal or neonatal onset of severe cardiomyopathy with non-lysosomal glycogen accumulation and fatal outcome in infancy. Patients present with massive cardiomegaly, severe cardiac and respiratory complications and failure to thrive. Non-specific facial dysmorphism, bilateral cataracts, macroglossia, hydrocephalus, enlarged kidneys and skeletal muscle involvement have been reported in some cases. [from SNOMEDCT_US]

Available tests

58 tests are in the database for this condition.

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Clinical tests (58 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AAKG, AAKG2, CMH6, H91620p, WPWS, PRKAG2
    Summary: protein kinase AMP-activated non-catalytic subunit gamma 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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