IEMbase 0702: NDUFB3-related NADH dehydrogenase beta subcomplex subunit 3 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 702 |
| Nosology | 7.1.15.01 |
| Nosology code | IEM0427 |
| Gene | NDUFB3 |
| External IDs | OMIM:618246 for NDUFB3/MC1DN25; IEMbase source lists OMIM:252010; ORPHA:2609 |
| Generated mapping | CANDIDATE to COX18-Related_COX_Deficiency.yaml |
| Candidate DisMech targets | Broad complex I/Leigh context only; no exact NDUFB3 target |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents autosomal recessive NDUFB3-related NADH dehydrogenase beta subcomplex subunit 3 deficiency, also labeled mitochondrial complex I deficiency, nuclear type 25.
The source lists OMIM:252010, while MONDO resolves mitochondrial complex I deficiency nuclear type 25 to OMIM:618246 and NDUFB3. The source identifier appears broad or cross-listed and should be reviewed before downstream use.
Biochemical rows show decreased fibroblast complex I activity and increased plasma lactate through childhood. Clinical rows include developmental delay, encephalopathy, hypotonia, myopathy, and characteristic lactic acidosis.
DisMech phenotype coverage
No exact NDUFB3 or MC1DN25 local target was identified.
Leigh_Syndrome.yaml supplies broad overlap for complex I-related neurologic
disease, lactate elevation, hypotonia, developmental impairment, and
encephalopathy. It does not model NDUFB3.
The generated COX18-Related_COX_Deficiency.yaml candidate is a complex IV
COX2-maturation disorder. It shares the nuclear-type number 25 but belongs to
MC4DN25 rather than MC1DN25.
Concordance and completeness
Judgement: true local gap with broad Leigh overlap only.
The IEMbase row is a complex I beta-subcomplex disease with neuromuscular and encephalopathic features. COX18 is a wrong-complex number-collision candidate, and the source OMIM field should not be treated as a gene-specific NDUFB3 identifier without review.
Curation actions
- Add a dedicated NDUFB3/MC1DN25 target if curated.
- Reject COX18-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, developmental delay, encephalopathy, hypotonia, myopathy, and lactic acidosis.