IEMbase 0442: AIFM1-related X-linked mitochondrial myopathy
Scope
| Field | Value |
|---|---|
| IEMbase ID | 442 |
| Nosology | 11.4.03.01 |
| Gene | AIFM1 |
| External IDs | OMIM:300816; ORPHA:101078 |
| Generated mapping | UNMAPPED; low candidate X-linked_Nonsyndromic_Hearing_Loss.yaml |
| Candidate DisMech targets | No exact local target |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents AIFM1-related X-linked mitochondrial myopathy, also called combined oxidative phosphorylation defect 6 (COXPD6). It records X-linked inheritance. Biochemical rows include increased lactate in cerebrospinal fluid and plasma. Clinical rows include hypotonia, neurologic deterioration, perinatal death, psychomotor regression, areflexia, neuropathy, and seizures. There are no treatment rows.
DisMech phenotype coverage
There is no exact local target for the AIFM1 COXPD6 or X-linked infantile
mitochondrial myopathy phenotype. Local AIFM1 context exists in
X-linked_Nonsyndromic_Hearing_Loss.yaml, Auditory_Neuropathy.yaml, and
Spondyloepimetaphyseal_Dysplasia_Bieganski_Type.yaml, but those files describe
different AIFM1-associated presentations: DFNX hearing loss, auditory neuropathy
or ANSD-related mitochondrial neuronal injury, and a skeletal dysplasia with
hypomyelination and neurodegeneration.
The generated X-linked_Nonsyndromic_Hearing_Loss.yaml candidate is therefore
not an exact mapping for the IEMbase mitochondrial myopathy/COXPD6 record.
Concordance and completeness
Judgement: true AIFM1 COXPD6 local gap; reject DFNX hearing loss as an exact mapping, while retaining existing AIFM1 files as gene-spectrum context.
The generated candidate shares gene and inheritance but not the disease entity, proximal phenotype, or combined OXPHOS mitochondrial myopathy framing.
Curation actions
- Keep this record unmapped until an AIFM1-related X-linked mitochondrial myopathy or COXPD6 target exists, or until an explicit lumping decision places it into a broader AIFM1 mitochondrial disorder file.
- Do not map directly to
X-linked_Nonsyndromic_Hearing_Loss.yaml. - If curated, include AIFM1, X-linked inheritance, combined oxidative phosphorylation defect 6, increased plasma and CSF lactate, hypotonia, neurologic deterioration, psychomotor regression, areflexia, neuropathy, seizures, and perinatal death.