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Orphanet Rare Disease Ontology
Last uploaded:
December 4, 2024
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| Preferred Name | Acatalasemia | |
| Synonyms |
Catalase deficiency |
|
| Definitions |
A rare inborn error of metabolism characterized by a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide. The disorder is usually asymptomatic but may be associated with oral ulcerations and gangrene, or diabetes mellitus and atherosclerosis in certain populations. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_926 |
|
| alternative_term |
Catalase deficiency
|
|
| definition |
A rare inborn error of metabolism characterized by a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide. The disorder is usually asymptomatic but may be associated with oral ulcerations and gangrene, or diabetes mellitus and atherosclerosis in certain populations.
|
|
| definition_citation |
Orphanet
|
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=926 |
|
| has_age_of_onset |
All ages
|
|
| has_inheritance |
Autosomal recessive
|
|
| hasDbXref |
MedDRA:10086141 OMIM:614097 ICD-10:E80.3 UMLS:C0268419 ICD-11:5C57.1 MeSH:D020642
|
|
| label |
Acatalasemia
|
|
| notation |
ORPHA:926
|
|
| part_of | ||
| prefixIRI |
ORDO:Orphanet_926
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|
| prefLabel |
Acatalasemia
|
|
| present_in |
Europe AND has_point_prevalence_average_value : 3.2 AND has_point_prevalence_range : 1-9 / 100 000
|
|
| treeView | ||
| subClassOf |
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