Acatalasemia
GtoPdb Disease Summaries
This section gives an overview of the disease, and where available shows the following:
- Synonyms: Shows known synonyms for the disease.
- Description: Gives a basic description/definition of the disease.
- Database Link: External links to the same disease at the Disease Ontology, OMIM or Orphanet sites.
- Immunopharmacology comments: General comments about the target's role in immunopharmacology, provided by GtoImmuPdb curators.
- Associated with: Counts are displayed for the total targets the disease is associated with in GtoPdb. The counts of targets and ligands of immunological relevance associated to the disease are also shown.
More information can be found in the help pages.
✖| Disease ID: | 1249 | |
| Name: | Acatalasemia | |
| Associated with: | 1 target | |
| Synonyms |
| acatalasia | catalase deficiency | Takahara disease |
| Description |
| A rare autosomal recessive peroxisomal disorder caused by deficient activity of the enzyme, catalase, that was originally identified in patients suffering from ulcerating oral gangrene. different A number of CAT gene mutations that generate enzymes with varying degress of enzymatic deficiency have been identified. Heterozygotes have an intermediate level of catalase in the blood. |
| Database Links |
|
OMIM:
614097 Orphanet: ORPHA926 |
Targets
GtoPdb Disease Summaries - Targets
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Where available, information is display on the role of the target in the disease; drugs which target the disease and their therapeutic use and side-effects.
If there is mutation data curated in GtoPdb this is indicated, with a link back to the appropriate section on the target detailed view page
Immuno ligand interactions - If available, a table of immuno-relevant ligands is shown. These ligands have been curated as having an association to the disease and possess interaction data with the target in GtoPdb. The approval status of the ligand is shown, along with curator comments and an indication of whether the target is considered the primary target of the ligand.
More information can be found in the help pages.
✖| catalase | |
| Role: | Patients with acatalasemia are unable to breakdown hydrogen peroxide, leaving their tissues at risk of oxidative damage. Patients may be asymptomatic, but symptoms can include progressive oral gangrene. Acatalasemia is associated with diabetes mellitus and atherosclerosis in some defined populations. |
| Comments: | Genetic heterogeneity is found in patients with acatalasemia. |
| References: | 1-5 |
Ligands
GtoPdb Disease Summaries - Ligands
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- Approved: If the ligand is an approved drug this is indicated, along with approval bodies.
- Immuno: Immuno icon indicates the ligand is immuno-relevant
Click the arrow in the final column to expand comments
- Immuno Disease Comments: Curatorial comments specifically added as part of GtoImmuPdb. They give more information on the association between the ligand and disease in the context of immunopharmacology.
- Clinical Use: General clinical comments relating to the ligand and may not necessarily be specific to the disease in question. With hyperlink to more details on the ligand summary pages.
- Bioactivty Comments: Curatorial comments specifically about the compounds biological activity - with hyperlink to more details on the ligand summary pages.
More information can be found in the help pages.
✖No ligand related data available for Acatalasemia
References
1. Góth L, Eaton JW. (2000) Hereditary catalase deficiencies and increased risk of diabetes. Lancet, 356 (9244): 1820-1. [PMID:11117918]
2. Góth L, Shemirani A, Kalmár T. (2000) Anovel catalase mutation (a GA insertion) causes the Hungarian type of acatalasemia. Blood Cells Mol Dis, 26 (2): 151-4. [PMID:11001624]
3. HAMILTON HB, NEEL JV. (1963) GENETIC HETEROGENEITY IN HUMAN ACATALASIA. Am J Hum Genet, 15: 408-19. [PMID:14097235]
4. Hirono A, Sasaya-Hamada F, Kanno H, Fujii H, Yoshida T, Miwa S. (1995) A novel human catalase mutation (358 T-->del) causing Japanese-type acatalasemia. Blood Cells Mol Dis, 21 (3): 232-4. [PMID:8673475]
5. Wen JK, Osumi T, Hashimoto T, Ogata M. (1990) Molecular analysis of human acatalasemia. Identification of a splicing mutation. J Mol Biol, 211 (2): 383-93. [PMID:2308162]
