IEMbase 0617: WDR45-related neurodegeneration with brain iron accumulation 5
Scope
| Field | Value |
|---|---|
| IEMbase ID | 617 |
| Nosology | 20.5.02.01 |
| Gene | WDR45 |
| External IDs | OMIM:300894; ORPHA:329284 |
| Generated mapping | MAPPED; Neurodegeneration_With_Brain_Iron_Accumulation.yaml#BPAN |
| Candidate DisMech targets | Exact subtype-level target |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents WDR45-related NBIA5 / BPAN as an X-linked disorder with unknown treatability and no treatment rows. The biochemical row is increased brain iron in childhood, adolescence, and adulthood.
Clinical and characteristic rows include childhood-to-adult ataxia, extrapyramidal signs, seizures, adolescent/adult dystonia, adolescent/adult cerebral atrophy on MRI, and adult dementia.
DisMech phenotype coverage
Neurodegeneration_With_Brain_Iron_Accumulation.yaml#BPAN is the correct
subtype-level target. The local NBIA entry already includes BPAN as the WDR45
subtype, with subtype term MONDO:0010476, WDR45 gene binding, X-linked
inheritance context, brain iron accumulation, movement disorder, seizures, and
progressive neurodegeneration.
IEMbase is useful for BPAN-specific staging and phenotype prompts, especially the childhood static encephalopathy/adult dementia transition implied by the SENDA synonym and the age-banded movement/imaging rows.
Concordance and completeness
Judgement: correct subtype-level mapping with high concordance.
DisMech has the correct entity placement. The main gap is subtype-specific phenotype granularity within the broader NBIA entry.
Curation actions
- Keep
Neurodegeneration_With_Brain_Iron_Accumulation.yaml#BPANas the canonical mapping. - Review whether BPAN-specific dementia, cerebral atrophy, ataxia, dystonia, extrapyramidal signs, seizures, and age-banded brain-iron rows should be added to the local subtype coverage.