ORPHA:263440
Neuroacanthocytosis
- Type
- Clinical group
- Group
- Group of disorders
- Status
- active
Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Neuroacanthocytosis | |
| fr | Neuroacanthocytose | |
| de | Neuroakanthozytose | |
| es | Neuroacantocitosis | |
| it | Neuroacantocitosi | |
| nl | Neuroacanthocytose | |
| pt | Neuroacantocitose | |
| pl | Neuroakantocytoza | |
| cs | Neuroakantocytóza | |
| uk | Нейроакантоцитоз | |
| zh | 神经棘红细胞增多症 | |
| tr | Nöroakantositoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0016987 | E | validated | |
| MONDO | 16987 | E | validated | |
| MeSH | D054546 | E | validated | |
| UMLS | C0393576 | E | validated | |
| GARD | 10902 | E | validated | |
| MedDRA | 10081506 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:276058Genetic neurodegenerative disease with dementia
rare genetic diseases - ORPHA:158266Huntington disease-like syndrome
rare genetic diseases; rare neurological 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
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Not yet validated | 22027213[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/263440
- This record as JSON: /data/d/263440.json