IEMbase 0733: COX7B-related cytochrome c oxidase subunit 7B deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 733 |
| Nosology | 7.4.07.02 |
| Nosology code | IEM0468 |
| Gene | COX7B |
| External IDs | OMIM:300887; ORPHA:2556 |
| Generated mapping | UNMAPPED; weak candidate COX6B1-Related_COX_Deficiency.yaml |
| Candidate DisMech targets | No exact COX7B/linear skin defects target identified |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents X-linked COX7B-related cytochrome c oxidase subunit 7B deficiency. The alternate-name field identifies linear skin defects with multiple congenital anomalies 2. The cached rows are sparse and congenital anomaly focused: possible microcephaly, possible short stature, and prominent linear skin defects from neonatal through childhood windows.
DisMech phenotype coverage
No exact COX7B or linear skin defects with multiple congenital anomalies 2 local target was identified.
The weak COX6B1-Related_COX_Deficiency.yaml candidate is not exact coverage.
COX6B1 is a different nuclear-encoded complex IV structural subunit with
infantile encephalomyopathy, hydrocephalus, and cardiomyopathy. It does not
capture the X-linked COX7B/linear skin defect entity.
Concordance and completeness
Judgement: true local COX7B/linear skin defects gap. The COX6B1 candidate should be rejected as exact coverage.
The IEMbase row is sparse but points to a distinct X-linked congenital-anomaly phenotype rather than the COX6B1 infantile encephalomyopathy/cardio-CNS presentation.
Curation actions
- Add a dedicated COX7B/linear skin defects with multiple congenital anomalies 2 target if curated.
- Reject
COX6B1-Related_COX_Deficiency.yamlas exact coverage. - Preserve X-linked inheritance, microcephaly, short stature, and linear skin defects.
- Keep COX7B separate from COX6B1 despite shared complex IV structural-subunit vocabulary.