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121. Neurodegeneration with brain iron accumulation Disease details / Clinical trials / Drug dev / DR info /

Clinical trials : 30 / Drugs : 31 - (DrugBank : 4) / Drug target genes : 4 - Drug target pathways : 109

Other names

NBIA;Neuroferritinopathy;FTL;NBIA3;

Disease group

Neuromuscular diseases

Domestic patients
Med expenses recipients, FY2024 (corrected) (in Japanese)

14 patients

Age distribution

💬

Clinical research form (in Japanese)
MHLW Intractable Diseases, FY2026 (in Japanese)

Overview, diagnostic criteria, etc. (pdf), Clinical research form (pdf)

Specific pediatric chronic diseases, Japan (in Japanese)

Sub-diseases
(Clinical research forms may not be available for all sub-diseases.)

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.

Neuroferritinopathy;FTL;NBIA3;

121-4.

Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;

121-5.

Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;

11-33-91. WDR45 associated neurodegeneration; SENDA/BPAN

121-6.

Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;

121-7.

Aceruloplaminemia;Hereditary ceruloplasmin deficiency;

8-8-110. Aceruloplasminemia

121-8.

Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;

121-9.

Kufor-Rakeb syndrome;KRS;

121-10.

Woodhouse-Sakati syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;