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GTR Home > Conditions/Phenotypes > AICA-ribosiduria

AICA-ribosiduria

Synonyms
AICA-ribosiduria due to ATIC deficiency; AICAR transformylase/IMP cyclohydrolase deficiency; ATIC DEFICIENCY
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

AICA-ribosiduria is characterized by severe to profound global neurodevelopmental impairment, severe visual impairment due to chorioretinal atrophy, ante-postnatal growth impairment, and severe scoliosis. Dysmorphic features include coarse facies and upturned nose. Early-onset epilepsy may occur. Less common features may include aortic coarctation, chronic hepatic cytolysis, minor genital malformations, and nephrocalcinosis (Ramond et al., 2020). [from OMIM]

Available tests

16 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (16 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AICAR, AICARFT, HEL-S-70p, IMPCHASE, PURH, ATIC
    Summary: 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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