IEMbase 0467: TIMM8A-related Mohr-Tranebjaerg syndrome
Scope
| Field | Value |
|---|---|
| IEMbase ID | 467 |
| Nosology | 11.2.02.01 |
| Gene | TIMM8A |
| External IDs | OMIM:304700; ORPHA:52368 |
| Generated mapping | UNMAPPED; no generated candidate |
| Candidate DisMech targets | No exact local target |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents X-linked TIMM8A-related Mohr-Tranebjaerg syndrome (MTS), also known as deafness-dystonia syndrome. Clinical rows include characteristic sensorineural deafness, dystonia, impaired vision, optic atrophy, behavioral disorder, intellectual disability, adult dementia, and adult bone fractures. There are no biochemical or treatment rows.
DisMech phenotype coverage
There is no exact local DisMech target for TIMM8A-related Mohr-Tranebjaerg
syndrome. Local searches did not identify TIMM8A, Mohr-Tranebjaerg syndrome, or
deafness-dystonia syndrome coverage. Acronym-only MTS hits are not relevant;
for example, Muir-Torre syndrome context in Lynch syndrome is an unrelated
cancer predisposition syndrome.
Concordance and completeness
Judgement: true TIMM8A/Mohr-Tranebjaerg local gap.
Because no exact local target exists, concordance cannot be assessed beyond noting that existing hearing-loss and dystonia contexts elsewhere in the KB would be phenotype neighbors only, not disease-level matches.
Curation actions
- Keep this record unmapped until a TIMM8A-related Mohr-Tranebjaerg syndrome or deafness-dystonia syndrome target exists.
- Do not map acronym hits for MTS or generic hearing-loss/dystonia files to this record.
- If curated, include TIMM8A, X-linked inheritance, mitochondrial intermembrane space/import biology, sensorineural deafness, dystonia, optic atrophy, visual impairment, behavioral disorder, intellectual disability, dementia, and bone fracture risk.