Acatalasemia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
ACATALASIA catalase deficiency |
| Number of Symptoms | 3 |
| OrphanetNr: | 926 |
| OMIM Id: |
614097
|
| ICD-10: |
E80.3 |
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
267454002 |
Prevalence, inheritance and age of onset:
| Prevalence: | 3.2 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Disorder of peroxisomal alpha-, beta- and omega-oxidation
-Rare genetic disease |
Symptom Information:
|
|
(HPO:0000155) | Oral ulcer | 9 / 7739 | ||||
|
|
(HPO:0012517) | Reduced catalase activity | 1 / 7739 | ||||
|
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Description: (OMIM) |
Acatalasemia, also known as acatalasia, is a metabolic disorder characterized by a total or near total loss of catalase activity in erythrocytes. About half of cases originate from ulcerating oral gangrenes, and these cases are referred to as ... |
| Clinical Description OMIM |
Acatalasemia was first discovered in Japan by Takahara, an otolaryngologist who found that in cases of progressive oral gangrene, hydrogen peroxide applied to the ulcerated areas did not froth in the usual manner (Takahara and Miyamoto, 1948). Heterozygotes ... |
| Molecular genetics OMIM |
In a Japanese patient with acatalasemia, Wen et al. (1990) identified a homozygous splice site mutation in the CAT gene (115500.0001). In a Japanese patient with acatalasemia, Hirono et al. (1995) identified 1-bp deletion in the ... |
| Population genetics OMIM |
Ogata (1991) reported that 90 of 107 known individuals with acatalasemia were Japanese. Goth et al. (2000) stated that the incidence of acatalasemia in Hungary in 5:106. |