IEMbase 0703: NDUFB9-related NADH dehydrogenase beta subcomplex subunit 9 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 703 |
| Nosology | 7.1.26.01 |
| Nosology code | IEM1142 |
| Gene | NDUFB9 |
| External IDs | OMIM:618245 for NDUFB9/MC1DN24; IEMbase source lists OMIM:252010; ORPHA:2609 |
| Generated mapping | CANDIDATE to FASTKD5-Related_COX_Deficiency.yaml |
| Candidate DisMech targets | Broad complex I/Leigh context only; no exact NDUFB9 target |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents autosomal recessive NDUFB9-related NADH dehydrogenase beta subcomplex subunit 9 deficiency, also labeled mitochondrial complex I deficiency, nuclear type 24.
The source lists OMIM:252010, while MONDO resolves mitochondrial complex I deficiency nuclear type 24 to OMIM:618245 and NDUFB9. The source identifier should be reviewed before downstream use.
Biochemical rows show decreased fibroblast complex I activity and increased plasma lactate in neonatal and infantile windows. Clinical rows include perinatal death, hypotonia, and characteristic lactic acidosis.
DisMech phenotype coverage
No exact NDUFB9 or MC1DN24 local target was identified.
Leigh_Syndrome.yaml gives broad context for complex I-related mitochondrial
encephalopathy, lactate elevation, hypotonia, and severe early-onset disease,
but it does not model NDUFB9.
The generated FASTKD5-Related_COX_Deficiency.yaml candidate is a complex IV
mRNA-processing disorder. It shares the nuclear-type number 24 but belongs to
MC4DN24 rather than MC1DN24.
Concordance and completeness
Judgement: true local gap with broad mitochondrial/Leigh overlap only.
The IEMbase record is a severe early NDUFB9 complex I deficiency with perinatal death and lactic acidosis. FASTKD5 is a wrong-complex number-collision candidate, not exact coverage.
Curation actions
- Add a dedicated NDUFB9/MC1DN24 target if curated.
- Reject FASTKD5-related complex IV deficiency as exact coverage.
- Preserve the source OMIM discrepancy for review before downstream identifier use.
- Preserve decreased fibroblast complex I activity, increased plasma lactate, perinatal death, hypotonia, and lactic acidosis.