neurodegeneration with brain iron accumulation 5
MONDO:0010476
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.
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Beta-propeller protein-associated neurodegeneration
Beta-propeller protein-associated neurodegeneration (BPAN), previously known as static encephalopathy of childhood with neurodegeneration in adulthood (SENDA), is a rare hereditary X-linked dominant disorder caused by a mutation in the WDR45 gene. BPAN belongs to a class of disorders called neurodegeneration with brain iron accumulation (NBIA), which causes brain iron elevation and neurodegeneration. Patients with BPAN develop symptoms, such as early-onset developmental delay, seizures, and further neurological decline, such as dystonia, parkinsonism, and dementia, which develops by early adulthood. BPAN is one of the most common NBIA disorders. As of 2024, 123 individuals with BPAN have been identified. There are more females than males with this disease due to nonviability in males with germline mutations because males have only one X chromosome, where the WDR45 gene is located. The patient with the oldest onset of degeneration is 50 years old as of 2023.
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.