IEMbase 0141: ATIC-related AICAR transformylase-IMP cyclohydrolase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 141 |
| Nosology | 16.2.21.01 |
| Gene | ATIC |
| External IDs | OMIM:608688; OMIM:601731; ORPHA:250977 |
| Generated mapping | UNMAPPED |
| Candidate DisMech targets | No valid ATIC/AICA-ribosiduria target found; generated catecholamine-synthesis candidate is false |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as ATIC-related AICAR transformylase-IMP cyclohydrolase deficiency, with alternate label AICAribosiduria and abbreviation AICAR. Treatability is marked unknown.
The characteristic biochemical row is markedly increased urinary AICA riboside. The enzyme-testing row records markedly decreased fibroblast AICAR transformylase/IMP cyclohydrolase activity. Clinical rows include high nasal bridge, low-set ears, thin upper lip, wide mouth, blindness, coarse facial features, dysmorphic features, and intellectual disability. No treatment rows are listed.
DisMech phenotype coverage
No local standalone ATIC/AICA-ribosiduria entry was found. The generated catecholamine-synthesis candidate is a false pathway/acronym neighbor and does not involve ATIC or de novo purine synthesis.
Adenylosuccinate_Lyase_Deficiency.yaml mentions ATIC/AICA-ribosiduria only in
a reference title about purinosome assembly. That is pathway context, not a
disease-level target for ATIC deficiency.
Concordance and completeness
Judgement: true unmapped local disease gap.
The IEMbase record points to ATIC deficiency with urinary AICA riboside accumulation, reduced bifunctional enzyme activity, dysmorphism, blindness, and intellectual disability. Current DisMech has adjacent purine-metabolism content for ADSL deficiency and Lesch-Nyhan syndrome, but not ATIC/AICA-ribosiduria.
Curation actions
- Keep this record unmapped.
- Reject the catecholamine-synthesis candidate and do not map to ADSL deficiency.
- Future curation should add an ATIC/AICA-ribosiduria target with AICA riboside accumulation, reduced AICAR transformylase/IMP cyclohydrolase activity, intellectual disability, blindness, and craniofacial dysmorphism.