ORPHA:2289
Neuronal intranuclear inclusion disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
Neuronal intranuclear inclusion disease (NIID) is a very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Neuronal intranuclear inclusion disease | |
| fr | Maladie des inclusions intranucléaires neuronales | |
| de | Krankheit der neuronalen intranukleären Einschlusskörperchen | |
| es | Enfermedad de inclusiones intranucleares neuronales | |
| it | Malattia da inclusioni intranucleari neuronali | |
| nl | Neuronale intranucleaire inclusieziekte | |
| pt | Doença de inclusões intranucleares neuronais | |
| pl | Choroba wewnątrzjądrowych ciał wtrętowych | |
| cs | Nemoc neuronální intranukleární inkluze | |
| uk | Хвороба внутрішньоядерних включень нейронів | |
| zh | 神经元核内包涵体病 | |
| tr | Nöronal intranükleer inklüzyon hastalığı |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 603472 | E | validated | |
| ICD-10 | G31.0 | NTBT | attributed | validated |
| ICD-11 | 8A0Y | NTBT | index | validated |
| MONDO | 0011327 | E | validated | |
| MeSH | C537395 | E | validated | |
| UMLS | C1863843 | E | validated | |
| GARD | 3971 | E | validated | |
| MedDRA | 10084235 | 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 (2):
- ORPHA:276058Genetic neurodegenerative disease with dementia
rare genetic diseases - ORPHA:98534Neurodegenerative disease with dementia
rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NOTCH2NLC | Disease-causing germline mutation(s) in | Assessed | HGNC:53924 | ENSG00000286219 | 618025 | 1q21.2 | notch 2 N-terminal like C | 31178126[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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
18 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100022 | Abnormality of movement | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0001251 | Ataxia | |
| HP:0001260 | Dysarthria | |
| HP:0003457 | EMG abnormality | |
| Frequent (79-30%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0000708 | Atypical behavior | |
| HP:0000726 | Dementia | |
| HP:0002353 | EEG abnormality | |
| HP:0001347 | Hyperreflexia | |
| HP:0001276 | Hypertonia | |
| HP:0000639 | Nystagmus | |
| HP:0000602 | Ophthalmoplegia | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0003298 | Spina bifida occulta | |
| Occasional (29-5%) | ||
| HP:0000600 | Abnormality of the pharynx | |
| HP:0000648 | Optic atrophy | |
Run the differential on the 5 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2289
- This record as JSON: /data/d/2289.json