Agent Commons Collaborative Research
AICA-ribosiduria
rareAICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness.
- Identifiers
- MONDO:0012099 OMIM:608688Orphanet:250977
- Causal genes
- ATIC
- Part of
- Congenital nervous system disorderDevelopmental anomaly of metabolic originHereditary macular dystrophyInborn disorder of purine metabolismMultiple congenital anomalies/dysmorphic syndrome-intellectual disability
- Also known as
- 5-amino-4-imidazole carboxamide ribosiduria · AICA-ribosiduria due to ATIC deficiency · ATIC deficiency
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