Neurodegeneration with brain iron accumulation 5
Neurodegeneration with brain iron accumulation 5
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.
Also known as beta-propeller protein-associated neurodegeneration, BPAN, NBIA5, neurodegeneration with brain iron accumulation 5, neurodegeneration with brain iron accumulation 5, X-linked dominant, neurodegeneration with brain iron accumulation caused by mutation in WDR45, neurodegeneration with brain iron accumulation type 5, SENDA, static encephalopathy of childhood with neurdegeneration in adulthood, static encephalopathy Of childhood with neurodegeneration In adulthood, WDR45 neurodegeneration with brain iron accumulation — per MONDO
Also identified as
- DOID 0110739 per MONDO
- NCIT C175210 per MONDO
- OMIM 300894 per MONDO
- Orphanet 329284 per MONDO
- SCTID 732959007 per MONDO
- UMLS C3550973 per MONDO
Affected Organs
| Organ | Involvement | Source |
|---|---|---|
| Central nervous system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Central nervous system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Nervous system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Nervous system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |