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Orphanet Rare Disease Ontology
Last uploaded:
July 3, 2024
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| Preferred Name | Neuronal ceroid lipofuscinosis | |
| Synonyms |
NCL NCL disease CLN disease |
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| Definitions |
Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_216 |
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| alternative_term |
NCL NCL disease CLN disease
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|
| definition |
Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina.
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| definition_citation |
Orphanet
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=216 |
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| has_age_of_onset |
All ages
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| has_inheritance |
Autosomal recessive Autosomal dominant
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| hasDbXref |
MeSH:D009472 UMLS:C0027877 ICD-11:5C56.1 ICD-10:E75.4 MedDRA:10074607
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| label |
Neuronal ceroid lipofuscinosis
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| notation |
Clinical group ORPHA:216
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| prefixIRI |
ORDO:Orphanet_216
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| prefLabel |
Neuronal ceroid lipofuscinosis
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| present_in |
Italy AND has_annual_incidence_average_value : 0.98 AND has_annual_incidence_range : 1-9 / 1 000 000 Italy AND has_point_prevalence_average_value : 0.12 AND has_point_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 Norway AND has_birth_prevalence_average_value : 4.0 AND has_birth_prevalence_range : 1-9 / 100 000 Italy AND has_birth_prevalence_average_value : 0.56 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown
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| subClassOf |
http://www.orpha.net/ORDO/Orphanet_98543 http://www.orpha.net/ORDO/Orphanet_183500 http://www.orpha.net/ORDO/Orphanet_182070 http://www.orpha.net/ORDO/Orphanet_557492 http://www.orpha.net/ORDO/Orphanet_225681 |
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