AICA-ribosiduria
Findings
No curated finding names AICA-ribosiduria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
AICA-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.
Definition from the Mondo Disease Ontology (MONDO:0012099), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
23 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Anteverted naresHPOHP:0000463
- 1 of 1 reported patient
- BrachycephalyHPOHP:0000248
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Clitoral hypertrophyHPOHP:0008665
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Congenital blindnessHPOHP:0007875
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Elevated erythrocyte AICA-ribotide concentrationHPOHP:6000752
- 1 of 1 reported patient
- Elevated urinary 5-amino-4-imidazolecarboxamide-riboside levelHPOHP:0034565
- 1 of 1 reported patient
Show the remaining 11
- Optic atrophyHPOHP:0000648
- 1 of 1 reported patient
- Profound intellectual disabilityHPOHP:0002187
- 1 of 1 reported patient
- Prominent foreheadHPOHP:0011220
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Prominent metopic ridgeHPOHP:0005487
- 1 of 1 reported patient
- Prominent nasal bridgeHPOHP:0000426
- 1 of 1 reported patient
- Secundum atrial septal defectHPOHP:0001684
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ATICHGNC:794
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: AICA-ribosiduria
- Also called
- 5-amino-4-imidazole carboxamide ribosiduriaAICA-ribosiduria due to ATIC deficiencyATIC deficiency