neurodegeneration with brain iron accumulation 5
Findings
No curated finding names neurodegeneration with brain iron accumulation 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood.
Definition from the Mondo Disease Ontology (MONDO:0010476), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked dominant inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
30 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cerebral atrophyHPOHP:0002059
- 5 of 5 reported patients
- Frequent (30% to 79% of cases)
- Delayed speech and language developmentHPOHP:0000750
- 5 of 5 reported patients
- DementiaHPOHP:0000726
- 5 of 5 reported patients
- Frequent (30% to 79% of cases)
- DystoniaHPOHP:0001332
- 5 of 5 reported patients
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- 5 of 5 reported patients
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- WDR45HGNC:28912
- Definitive · Illumina · X-linked · 2020
- Definitive · G2P · X-linked · 2025
- Strong · Genomics England PanelApp · X-linked · 2021
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2021
- Strong · PanelApp Australia · X-linked · 2025
- Moderate · Ambry Genetics · X-linked · 2018
Where it sits
Other names
10 names
Resolves to: neurodegeneration with brain iron accumulation 5
- Also called
- beta-propeller protein-associated neurodegenerationBPANNBIA5neurodegeneration with brain iron accumulation 5, X-linked dominantneurodegeneration with brain iron accumulation caused by mutation in WDR45neurodegeneration with brain iron accumulation type 5SENDAstatic encephalopathy of childhood with neurdegeneration in adulthoodstatic encephalopathy Of childhood with neurodegeneration In adulthoodWDR45 neurodegeneration with brain iron accumulation