Neurodegeneration with brain iron accumulation
General Information (adopted from Orphanet):
| Synonyms, Signs: |
NBIA |
| Number of Symptoms | 8 |
| OrphanetNr: | 385 |
| OMIM Id: |
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| ICD-10: |
G23.0 |
| UMLs: |
C2931845 |
| MeSH: |
C538421 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 2 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal dominant Autosomal recessive X-linked dominant [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic dementia
-Rare genetic disease Genetic neurodegenerative disease -Rare genetic disease Miscellaneous movement disorder due to genetic neurodegenerative disease -Rare genetic disease Miscellaneous movement disorder due to neurodegenerative disease -Rare neurologic disease Neurometabolic disease -Rare genetic disease -Rare neurologic disease Rare dementia -Rare neurologic disease Rare neurodegenerative disease -Rare neurologic disease |
Symptom Information:
|
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(HPO:0000488) | Retinopathy | Frequent [Orphanet] | 75 / 7739 | |||
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(HPO:0002071) | Abnormality of extrapyramidal motor function | Frequent [Orphanet] | 76 / 7739 | |||
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(HPO:0001332) | Dystonia | Very frequent [Orphanet] | 197 / 7739 | |||
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(HPO:0002167) | Neurological speech impairment | Frequent [Orphanet] | 308 / 7739 | |||
|
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(HPO:0004305) | Involuntary movements | Frequent [Orphanet] | 50 / 7739 | |||
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(HPO:0011031) | Abnormality of iron homeostasis | Very frequent [Orphanet] | 16 / 7739 | |||
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(HPO:0012795) | Abnormality of the optic disc | Frequent [Orphanet] | 187 / 7739 | |||
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(HPO:0002334) | Abnormality of the cerebellar vermis | Frequent [Orphanet] | 137 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|