Link to this page
Orphanet Rare Disease Ontology
| Preferred Name | Niemann-Pick disease type C | |
| Synonyms |
|
|
| Definitions |
A rare lysosomal lipid storage disease characterized by variable clinical signs, depending on the age of onset, such as prolonged unexplained neonatal jaundice or cholestasis, isolated unexplained splenomegaly, and progressive, often severe neurological symptoms such as cognitive decline, cerebellar ataxia, vertical supranuclear gaze palsy (VSPG), dysarthria, dysphagia, dystonia, seizures, gelastic cataplexy, and psychiatric disorders. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_646 |
|
| definition |
A rare lysosomal lipid storage disease characterized by variable clinical signs, depending on the age of onset, such as prolonged unexplained neonatal jaundice or cholestasis, isolated unexplained splenomegaly, and progressive, often severe neurological symptoms such as cognitive decline, cerebellar ataxia, vertical supranuclear gaze palsy (VSPG), dysarthria, dysphagia, dystonia, seizures, gelastic cataplexy, and psychiatric disorders.
|
|
| definition_citation |
Orphanet
|
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=646 |
|
| has_age_of_onset |
All ages
|
|
| has_inheritance |
Autosomal recessive
|
|
| hasDbXref |
OMIM:257220 MeSH:D052556 ICD-11:5C56.0Y OMIM:607625 ICD-10:E75.2 UMLS:C0220756
|
|
| label |
Niemann-Pick disease type C
|
|
| notation |
ORPHA:646
|
|
| part_of |
http://www.orpha.net/ORDO/Orphanet_98687 http://www.orpha.net/ORDO/Orphanet_264968 http://www.orpha.net/ORDO/Orphanet_183500 http://www.orpha.net/ORDO/Orphanet_182070 http://www.orpha.net/ORDO/Orphanet_79204 http://www.orpha.net/ORDO/Orphanet_98544 |
|
| prefixIRI |
ORDO:Orphanet_646
|
|
| prefLabel |
Niemann-Pick disease type C
|
|
| present_in |
Sweden AND has_birth_prevalence_average_value : 0.48 AND has_birth_prevalence_range : 1-9 / 1 000 000 France AND has_birth_prevalence_average_value : 0.77 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 Australia AND has_birth_prevalence_average_value : 0.47 AND has_birth_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_birth_prevalence_average_value : 0.75 AND has_birth_prevalence_range : 1-9 / 1 000 000 Czech Republic AND has_birth_prevalence_average_value : 0.91 AND has_birth_prevalence_range : 1-9 / 1 000 000 Germany AND has_birth_prevalence_average_value : 0.75 AND has_birth_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_birth_prevalence_average_value : 0.35 AND has_birth_prevalence_range : 1-9 / 1 000 000 Portugal AND has_birth_prevalence_average_value : 2.2 AND has_birth_prevalence_range : 1-9 / 100 000
|
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_98687 http://www.orpha.net/ORDO/Orphanet_264968 http://www.orpha.net/ORDO/Orphanet_183500 http://www.orpha.net/ORDO/Orphanet_182070 http://www.orpha.net/ORDO/Orphanet_79204 http://www.orpha.net/ORDO/Orphanet_98544 |
|
| subClassOf |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |