121. Neurodegeneration with brain iron accumulation Disease details / Clinical trials / Drug dev / DR info /
Clinical trials : 30 / Drugs : 26 - (DrugBank : 5) / Drug target genes : 4 - Drug target pathways : 106
| Other names | NBIA;Neuroferritinopathy;FTL;NBIA3; | ||
|---|---|---|---|
| Disease group | Neuromuscular diseases | ||
|
Domestic patients
Med expenses recipients (FY2023) |
3 patients Age distribution
 💬 |
||
| Related info (in Japanese) | - | ||
| Clinical research form [April 1, 2025 ~] (in Japanese) | Overview, diagnostic criteria, etc. (pdf), Clinical research form (pdf) | ||
| Specific pediatric chronic diseases, Japan (in Japanese) | - | ||
| Subtypes | No. | Name | Specific pediatric chronic diseases, Japan (in Japanese) |
| 121-1. | Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1; | 11-33-89. Pantothenate kinase-associated neurodegeneration; PKAN | |
| 121-2. | Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6; | 11-33-90. infantile neuroaxonal dystrophy; INAD | |
| 121-3. | Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4; | ||
| 121-4. | Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5; | 11-33-91. WDR45 associated neurodegeneration; SENDA/BPAN | |
| 121-5. | Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6; | ||
| 121-6. | Aceruloplaminemia;Hereditary ceruloplasmin deficiency; | 8-8-110. Aceruloplasminemia | |
| 121-7. | Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35; | ||
| 121-8. | Kufor-Rakeb syndrome; | ||
| 121-9. | DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome; | ||