CLN6 disease
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CEROID LIPOFUSCINOSIS, NEURONAL, 6, VARIABLE AGE AT ONSET NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, VARIANT, INCLUDED CLN6 vLINCL, INCLUDED |
| Number of Symptoms | 11 |
| OrphanetNr: | 228363 |
| OMIM Id: |
601780
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| ICD-10: |
E75.4 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Adult neuronal ceroid lipofuscinosis
-Rare eye disease -Rare genetic disease -Rare neurologic disease Late infantile neuronal ceroid lipofuscinosis -Rare eye disease -Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0000529) | Progressive visual loss | 54 / 7739 | ||||
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(HPO:0000546) | Retinal degeneration | 61 / 7739 | ||||
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(HPO:0001250) | Seizures | 1245 / 7739 | ||||
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(HPO:0002333) | Motor deterioration | 7 / 7739 | ||||
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(HPO:0001311) | Abnormal nervous system electrophysiology | 4 / 7739 | ||||
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(HPO:0001268) | Mental deterioration | 88 / 7739 | ||||
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(HPO:0003205) | Curvilinear intracellular accumulation of autofluorescent lipopigment storage material | 10 / 7739 | ||||
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(HPO:0003208) | Fingerprint intracellular accumulation of autofluorescent lipopigment storage material | 8 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0002074) | Increased neuronal autofluorescent lipopigment | 10 / 7739 | ||||
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(OMIM) | Autofluorescent lipopigment in neurons | 11 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment patterns observed most often in CLN6 ... |
| Clinical Description OMIM |
Sharp et al. (1997) studied 2 consanguineous families with a variant form of late-onset infantile neuronal ceroid lipofuscinosis (vLINCL). Both families originated from the Indian subcontinent. The affected individuals demonstrated a similar clinical course to the classic late ... |
| Molecular genetics OMIM |
In 2 families with a variant form of LINCL, one from Costa Rica and the other from Venezuela, Gao et al. (2002) identified mutations in the CLN6 gene (606725.0001-606725.0002). Wheeler et al. (2002) independently and simultaneously identified 6 ... |