Adult neuronal ceroid lipofuscinosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
ANCL Kufs disease Adult NCL |
| Number of Symptoms | 10 |
| OrphanetNr: | 79262 |
| OMIM Id: |
162350
204300 256730 601780 610127 614706 615362 |
| ICD-10: |
E75.4 |
| UMLs: |
C0022797 C2931675 |
| MeSH: |
C537950 |
| MedDRA: |
|
| Snomed: |
62009002 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant Autosomal recessive [Orphanet] |
| Age of onset: |
Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Cerebral lipidosis with dementia
-Rare genetic disease -Rare neurologic disease Neuronal ceroid lipofuscinosis -Rare eye disease -Rare genetic disease -Rare neurologic disease Progressive myoclonic epilepsy -Rare genetic disease -Rare neurologic disease |
Symptom Information:
|
|
(HPO:0000572) | Visual loss | Occasional [Orphanet] | 272 / 7739 | |||
|
|
(HPO:0000488) | Retinopathy | Occasional [Orphanet] | 75 / 7739 | |||
|
|
(HPO:0100543) | Cognitive impairment | Very frequent [Orphanet] | 230 / 7739 | |||
|
|
(HPO:0001250) | Seizures | Very frequent [Orphanet] | 1245 / 7739 | |||
|
|
(HPO:0000708) | Behavioral abnormality | Very frequent [Orphanet] | 212 / 7739 | |||
|
|
(HPO:0002066) | Gait ataxia | Very frequent [Orphanet] | 327 / 7739 | |||
|
|
(HPO:0002071) | Abnormality of extrapyramidal motor function | Very frequent [Orphanet] | 76 / 7739 | |||
|
|
(HPO:0004305) | Involuntary movements | Very frequent [Orphanet] | 50 / 7739 | |||
|
|
(HPO:0007256) | Abnormal pyramidal signs | Very frequent [Orphanet] | 116 / 7739 | |||
|
|
(HPO:0011442) | Abnormality of central motor function | Very frequent [Orphanet] | 76 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|