Acatalasemia
Synonyms: Catalase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acatalasemia | Catalase deficiency |
| fr | Acatalasémie | Déficit en catalase |
| de | Akatalasämie | Katalase-Mangel |
| es | Acatalasemia | Deficiencia de catalasa |
| it | Acatalasemia | Deficit di catalasi |
| nl | Acatalasemie | Catalasedeficiëntie |
| pt | Acatalassemia | Deficiência de catalase |
| pl | Akatalazja | Niedobór katalazy |
| cs | Akatalazemie | Deficit katalázy |
| uk | Акаталаземія | Дефіцит каталази |
| zh | 过氧化氢酶缺乏症 | 过氧化氢酶缺乏症 |
| tr | Akatalazemi | Katalaz eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614097 | E | validated | |
| ICD-10 | E80.3 | E | specific | validated |
| ICD-11 | 5C57.1 | NTBT | attributed | validated |
| MONDO | 0013571 | E | validated | |
| MeSH | D020642 | E | validated | |
| UMLS | C0268419 | E | validated | |
| GARD | 363 | E | validated | |
| MedDRA | 10086141 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:309810Disorder of peroxisomal alpha-, beta- and omega-oxidation
rare inborn errors of metabolism; rare genetic diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CAT | Disease-causing germline mutation(s) in | Assessed | HGNC:1516 | ENSG00000121691 | 115500 | 11p13 | catalase | 11001624[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 3.2 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
17 annotations · validated 2019-12-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012517 | Reduced catalase activity | |
| Frequent (79-30%) | ||
| HP:0000155 | Oral ulcer | |
| Occasional (29-5%) | ||
| HP:0100758 | Gangrene | |
| HP:0000225 | Gingival bleeding | |
| HP:0000230 | Gingivitis | |
| HP:0001935 | Microcytic anemia | |
| HP:0040113 | Old-aged sensorineural hearing impairment | |
| HP:0000166 | Severe periodontitis | |
| HP:0005978 | Type II diabetes mellitus | |
| Very rare (<4-1%) | ||
| HP:0002634 | Arteriosclerosis | |
| HP:0100605 | Neoplasm of the larynx | |
| HP:0012531 | Pain | |
| HP:0001300 | Parkinsonism | |
| HP:0006357 | Premature loss of permanent teeth | |
| HP:0100753 | Schizophrenia | |
| HP:0100651 | Type I diabetes mellitus | |
| HP:0001045 | Vitiligo | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 11500062[PMID]_24025477[PMID]_24522161[PMID]_25772105[PMID]_1999334[PMID]_11117918[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/926
- This record as JSON: /data/d/926.json