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GTR Home > Conditions/Phenotypes > Phosphoribosylaminoimidazole carboxylase deficiency

Phosphoribosylaminoimidazole carboxylase deficiency

Summary

Phosphoribosylaminoimidazole carboxylase deficiency (PAICSD) is an autosomal recessive disorder characterized by multiple congenital anomalies and early neonatal death (Pelet et al., 2019). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: ADE2, ADE2H1, AIRC, PAICSD, PAIS, PAICS
    Summary: phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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