Neuronal ceroid lipofuscinosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
NCL |
| Number of Symptoms | 16 |
| OrphanetNr: | 216 |
| OMIM Id: |
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| ICD-10: |
E75.4 |
| UMLs: |
C0027877 |
| MeSH: |
D009472 |
| MedDRA: |
|
| Snomed: |
42012007 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant Autosomal recessive [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic neurodegenerative disease
-Rare genetic disease Lysosomal disease -Rare genetic disease Lysosomal disease with epilepsy -Rare neurologic disease Metabolic disease with pigmentary retinitis -Rare eye disease -Rare genetic disease Neurometabolic disease -Rare genetic disease -Rare neurologic disease Rare neurodegenerative disease -Rare neurologic disease Unclassified primitive or secondary maculopathy -Rare eye disease -Rare genetic disease |
Symptom Information:
|
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(HPO:0008046) | Abnormality of the retinal vasculature | Very frequent [Orphanet] | 41 / 7739 | |||
|
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(HPO:0000512) | Abnormal electroretinogram | Very frequent [Orphanet] | 61 / 7739 | |||
|
|
(HPO:0000478) | Abnormality of the eye | Frequent [Orphanet] | 126 / 7739 | |||
|
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(HPO:0000572) | Visual loss | Very frequent [Orphanet] | 272 / 7739 | |||
|
|
(HPO:0001107) | Ocular albinism | Very frequent [Orphanet] | 40 / 7739 | |||
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(HPO:0002353) | EEG abnormality | Very frequent [Orphanet] | 188 / 7739 | |||
|
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(HPO:0001250) | Seizures | Very frequent [Orphanet] | 1245 / 7739 | |||
|
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(HPO:0100022) | Abnormality of movement | Frequent [Orphanet] | 129 / 7739 | |||
|
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(HPO:0100543) | Cognitive impairment | Frequent [Orphanet] | 230 / 7739 | |||
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(HPO:0002167) | Neurological speech impairment | Frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0002066) | Gait ataxia | Occasional [Orphanet] | 327 / 7739 | |||
|
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(HPO:0000708) | Behavioral abnormality | Occasional [Orphanet] | 212 / 7739 | |||
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(HPO:0001939) | Abnormality of metabolism/homeostasis | Frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0001252) | Muscular hypotonia | Very frequent [Orphanet] | 990 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(HPO:0012795) | Abnormality of the optic disc | Frequent [Orphanet] | 187 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|