Neuronal intranuclear inclusion disease
General Information (adopted from Orphanet):
| Synonyms, Signs: |
NIID |
| Number of Symptoms | 18 |
| OrphanetNr: | 2289 |
| OMIM Id: |
603472
|
| ICD-10: |
G31.0 |
| UMLs: |
C1863843 |
| MeSH: |
C537395 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
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| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
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 Rare dementia -Rare neurologic disease Rare neurodegenerative disease -Rare neurologic disease |
Symptom Information:
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(HPO:0000600) | Abnormality of the pharynx | Occasional [Orphanet] | 22 / 7739 | |||
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(HPO:0000597) | Ophthalmoparesis | Frequent [Orphanet] | 71 / 7739 | |||
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(HPO:0000639) | Nystagmus | Frequent [Orphanet] | 555 / 7739 | |||
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(HPO:0100543) | Cognitive impairment | Frequent [Orphanet] | 230 / 7739 | |||
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(HPO:0002167) | Neurological speech impairment | Very frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0001276) | Hypertonia | Frequent [Orphanet] | 317 / 7739 | |||
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(HPO:0002353) | EEG abnormality | Frequent [Orphanet] | 188 / 7739 | |||
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(HPO:0002066) | Gait ataxia | Very frequent [Orphanet] | 327 / 7739 | |||
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(HPO:0001250) | Seizures | Frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0000708) | Behavioral abnormality | Frequent [Orphanet] | 212 / 7739 | |||
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(HPO:0100022) | Abnormality of movement | Very frequent [Orphanet] | 129 / 7739 | |||
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(HPO:0001347) | Hyperreflexia | Frequent [Orphanet] | 363 / 7739 | |||
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(HPO:0003298) | Spina bifida occulta | Frequent [Orphanet] | 67 / 7739 | |||
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(HPO:0003312) | Abnormal form of the vertebral bodies | Frequent [Orphanet] | 172 / 7739 | |||
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(HPO:0002650) | Scoliosis | Frequent [Orphanet] | 705 / 7739 | |||
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(HPO:0003457) | EMG abnormality | Very frequent [Orphanet] | 78 / 7739 | |||
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(HPO:0003202) | Skeletal muscle atrophy | Very frequent [Orphanet] | 281 / 7739 | |||
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(HPO:0012795) | Abnormality of the optic disc | Occasional [Orphanet] | 187 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Description: (OMIM) |
Neuronal intranuclear inclusion disease (NIID) is characterized pathologically by eosinophilic intranuclear inclusions in neurons of the peripheral, central, and autonomic nervous systems associated with varying degrees of neuronal loss. Symptoms usually begin in childhood but adult-onset cases have ... |
| Clinical Description OMIM |
Kimber et al. (1998) described female monozygotic twins who developed upper and lower limb neurogenic weakness in their thirties, followed by cerebellar ataxia, dysarthria, and death after an illness of about 20 years' duration. Autopsy revealed pathologic features ... |