IEMbase 0704: NDUFB11-related NADH dehydrogenase beta subcomplex subunit 11 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 704 |
| Nosology | 7.1.17.01 |
| Nosology code | IEM0429 |
| Gene | NDUFB11 |
| External IDs | OMIM:300952 for NDUFB11/LSDMCA3 in MONDO; IEMbase source lists OMIM:252010; ORPHA:2556 |
| Generated mapping | CANDIDATE to COX10-Related_COX_Deficiency.yaml |
| Candidate DisMech targets | No exact NDUFB11/MC1DN30 or NDUFB11/LSDMCA3 target identified |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents X-linked NDUFB11-related NADH dehydrogenase beta subcomplex subunit 11 deficiency. The record is also labeled mitochondrial complex I deficiency, nuclear type 30, and linear skin defects with multiple congenital anomalies type 3.
The source lists OMIM:252010, while MONDO resolves the NDUFB11 linear skin defects term to OMIM:300952. MONDO treats OMIM:252010 as the older complex I deficiency nuclear type 1 / NDUFS4 identifier, so the source identifier should be reviewed before downstream use.
Biochemical rows show decreased fibroblast complex I activity and increased plasma lactate from neonatal through childhood windows. Clinical rows include sideroblastic anemia, cardiomyopathy, microphthalmia, perinatal death, and characteristic lactic acidosis.
DisMech phenotype coverage
No exact NDUFB11, MC1DN30, or linear-skin-defects type 3 local target was identified.
Leigh_Syndrome.yaml provides broad context for complex I-related mitochondrial
energy failure, lactate elevation, and severe early disease, but it does not
model NDUFB11 or the microphthalmia/linear skin defects phenotype.
The generated COX10-Related_COX_Deficiency.yaml candidate is a complex IV
heme A biosynthesis disorder and is not exact coverage for an NDUFB11 complex I
subunit disorder.
Concordance and completeness
Judgement: true local gap with broad complex I / Leigh overlap only.
The IEMbase record combines mitochondrial complex I deficiency with a syndromic NDUFB11/LSDMCA3 phenotype. The COX10 candidate should be rejected as an unrelated complex IV target.
Curation actions
- Add a dedicated NDUFB11/MC1DN30 or NDUFB11/LSDMCA3 target if curated.
- Reject
COX10-Related_COX_Deficiency.yamlas exact coverage. - Preserve the source OMIM discrepancy for identifier review.
- Preserve decreased fibroblast complex I activity, increased plasma lactate, sideroblastic anemia, cardiomyopathy, microphthalmia, perinatal death, and lactic acidosis.