IEMbase 0257: APTX-related Aprataxin deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 257 |
| Nosology | 8.1.13.01 |
| Gene | APTX |
| External IDs | OMIM:606350; ORPHA:1168 |
| Generated mapping | MAPPED; Ataxia_Telangiectasia.yaml#AOA1 |
| Candidate DisMech targets | Ataxia_Telangiectasia.yaml#AOA1 |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as APTX-related aprataxin deficiency, with alternate labels secondary coenzyme Q10 deficiency, ataxia oculomotor apraxia 1, and AOA1. The record is autosomal recessive and treatability is marked unknown, with no treatment rows in the cached JSON.
The cached phenotype signal is sparse. Biochemical rows include serum albumin, coded as increased in childhood, adolescence, and adulthood. The clinical row contains cognitive dysfunction. No characteristic rows are present in the cached JSON.
DisMech phenotype coverage
Ataxia_Telangiectasia.yaml#AOA1 is the correct local target. The local subtype
defines AOA1 as APTX-related autosomal recessive cerebellar ataxia with
oculomotor apraxia, axonal sensorimotor neuropathy, and hypoalbuminemia with
hypercholesterolemia. It places AOA1 within a broader DNA-repair ataxia
differential where telangiectasia, immunodeficiency, and cancer predisposition
are absent.
Concordance and completeness
Judgement: correct subtype-level mapping, but IEMbase is much less complete than DisMech and has a lab-direction issue to review.
IEMbase and DisMech agree on the APTX/AOA1 identity and autosomal recessive inheritance. DisMech is much richer for the defining phenotype and mechanism: aprataxin/DNA single-strand break repair, cerebellar ataxia, oculomotor apraxia, axonal neuropathy, hypoalbuminemia, and hypercholesterolemia. IEMbase's serum albumin row is coded increased, which conflicts with the local subtype description and AOA1 label emphasizing hypoalbuminemia.
Curation actions
- Keep this record mapped to
Ataxia_Telangiectasia.yaml#AOA1. - Review the IEMbase serum albumin direction before using it as a curation lead.
- Treat the secondary CoQ10 deficiency synonym as a context cue only; the cached JSON does not include CoQ10 biochemical or treatment rows.