loading...| Preferred Name |
Alexander disease |
|
| Synonyms |
AxD |
|
| Definitions |
A rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: Alexander disease (AxD) type I and type II manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_58 |
|
| alternative_term |
AxD |
|
| definition |
A rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: Alexander disease (AxD) type I and type II manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=58 |
|
| has_age_of_onset |
All ages |
|
| has_inheritance |
Autosomal dominant |
|
| hasDbXref |
UMLS:C0270726 MedDRA:10083059 MeSH:D038261 ICD-10:E75.2 OMIM:203450 ICD-11:8A44.2 |
|
| label |
Alexander disease |
|
| notation |
ORPHA:58 |
|
| part_of |
http://www.orpha.net/ORDO/Orphanet_183500 |
|
| prefixIRI |
ORDO:Orphanet_58 |
|
| prefLabel |
Alexander disease |
|
| present_in |
Japan AND has_annual_incidence_average_value : 0.037 AND has_annual_incidence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_183500 |
|
| subClassOf |