loading...| Preferred Name |
Canavan disease |
|
| Synonyms |
Aspartoacylase deficiency |
|
| Definitions |
Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_141 |
|
| alternative_term |
Aspartoacylase deficiency ACY2 deficiency Spongy degeneration of the brain Aminoacylase 2 deficiency |
|
| definition |
Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141 |
|
| has_age_of_onset |
Childhood Infancy Neonatal |
|
| has_inheritance |
Autosomal recessive |
|
| hasDbXref |
MeSH:D017825 ICD-11:5C50.E1 OMIM:271900 UMLS:C0206307 ICD-10:E75.2 MedDRA:10067608 |
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| label |
Canavan disease |
|
| notation |
ORPHA:141 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_308448 http://www.orpha.net/ORDO/Orphanet_183500 http://www.orpha.net/ORDO/Orphanet_182070 http://www.orpha.net/ORDO/Orphanet_68356 |
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| prefixIRI |
ORDO:Orphanet_141 |
|
| prefLabel |
Canavan disease |
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| present_in |
Specific population AND has_annual_incidence_average_value : 7.0 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_308448 http://www.orpha.net/ORDO/Orphanet_183500 http://www.orpha.net/ORDO/Orphanet_182070 http://www.orpha.net/ORDO/Orphanet_68356 |
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| subClassOf |