Neurodegeneration with brain iron accumulation
Synonyms: NBIA
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked dominant
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
A group of rare neurometabolic disease characterized by progressive extrapyramidal dysfunction (including generalized or oromandibular dystonia, dysarthria, Parkinsonism, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system. It encompasses several disorders that can be distinguised by MRI and patients may present with variable clinical features including neuropathy, spastic paraplegia, encephalopathy, autism, dementia, diabetus mellitus, retinitis pigmentosa, optic atrophy, hypogonadism, alopecia and deafness. The age at onset and rate of progression are variable among individuals.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Neurodegeneration with brain iron accumulation | NBIA |
| fr | Neurodégénérescence avec surcharge cérébrale en fer | = en |
| de | Neurodegeneration mit Eisenspeicherung im Gehirn | = en |
| es | Neurodegeneración con acúmulo cerebral de hierro | NACH · NBIA |
| it | Neurodegenerazione con accumulo cerebrale di ferro | = en |
| nl | Neurodegeneratie met ijzerstapeling in hersenen | = en |
| pt | Neurodegerescência com acumulação cerebral de ferro | Distrofia neuroaxonal infantil tardia · Doença de Hallervorden-Spatz · Doença dos gânglios da base de início na idade adulta · NBIA · Neurodegenerescência associada à pantotenato cinase · Neuroferritinopatia |
| pl | Zespoły neurozwyrodnieniowe spowodowane gromadzeniem się żelaza w mózgu | = en |
| cs | Neurodegenerace spojená s akumulací železa v mozku | = en |
| uk | Нейродегенерація з накопиченням заліза в головному мозку | = en |
| zh | 神经变性伴脑内铁积聚 | = en |
| tr | Beyinde demir birikimi ile seyreden nörodejenerasyon | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0018307 | E | validated | |
| MONDO | 18307 | E | validated | |
| MeSH | C538421 | E | validated | |
| UMLS | C2931845 | E | validated | |
| GARD | 11899 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:276058Genetic neurodegenerative disease with dementia
rare genetic diseases - ORPHA:307058Miscellaneous movement disorder due to genetic neurodegenerative disease
rare genetic diseases - ORPHA:306695Miscellaneous movement disorder due to neurodegenerative disease
rare neurological diseases - ORPHA:98534Neurodegenerative disease with dementia
rare neurological diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
Children (11):
- ORPHA:48818Aceruloplasminemia
- ORPHA:329284Beta-propeller protein-associated neurodegeneration
- ORPHA:397725COASY protein-associated neurodegeneration
- ORPHA:496756Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
- ORPHA:329308Fatty acid hydroxylase-associated neurodegeneration
- ORPHA:306674Kufor-Rakeb syndrome
- ORPHA:289560Mitochondrial membrane protein-associated neurodegeneration
- ORPHA:157846Neuroferritinopathy
- ORPHA:329303PLA2G6-related neurodegeneration
- ORPHA:157850Pantothenate kinase-associated neurodegeneration
- ORPHA:3464Woodhouse-Sakati syndrome
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.2 / 100 000 | Europe | Value and class | Validated | [EXPERT]_European Medicines Agency 2018[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/385
- This record as JSON: /data/d/385.json