IEMbase 0701: NDUFA13-related NADH dehydrogenase alpha subcomplex subunit 13 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 701 |
| Nosology | 7.1.27.01 |
| Nosology code | IEM1141 |
| Gene | NDUFA13 |
| External IDs | OMIM:618249; ORPHA:255241 |
| Generated mapping | CANDIDATE to TACO1-Related_COX_Deficiency.yaml |
| Candidate DisMech targets | Broad complex I/Leigh context only; no exact NDUFA13 target |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents autosomal recessive NDUFA13-related NADH dehydrogenase alpha subcomplex subunit 13 deficiency, also labeled mitochondrial complex I deficiency, nuclear type 28.
Biochemical rows show decreased fibroblast complex I activity and increased plasma lactate through childhood. Clinical rows include cerebellar atrophy, developmental delay, encephalopathy, feeding difficulties, lactic acidosis, and characteristic hypotonia.
DisMech phenotype coverage
No exact NDUFA13 or MC1DN28 local target was identified.
Leigh_Syndrome.yaml provides broad overlap for complex I-related
mitochondrial encephalopathy, lactate elevation, hypotonia, feeding/bulbar
difficulties, and developmental impairment. It does not model NDUFA13-specific
disease.
The generated TACO1-Related_COX_Deficiency.yaml candidate is a complex IV
mitochondrial translation disorder, not a complex I subunit disease.
Concordance and completeness
Judgement: true local gap with broad Leigh overlap only.
The IEMbase phenotype package includes complex I enzyme deficiency, lactate, cerebellar atrophy, feeding difficulty, encephalopathy, developmental delay, and hypotonia. These should not be attributed to TACO1-related complex IV deficiency.
Curation actions
- Add a dedicated NDUFA13/MC1DN28 target if curated.
- Reject TACO1-related complex IV deficiency as exact coverage.
- Preserve decreased fibroblast complex I activity, increased plasma lactate, cerebellar atrophy, developmental delay, encephalopathy, feeding difficulties, lactic acidosis, and hypotonia.