Acatalasemia (ACATLAS)

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Disease Ontology 12 DOID:2582 OMIM 57 614097 KEGG 37 H00203 MeSH 44 D020642 NCIt 50 C84526 ICD10 via Orphanet 34 E80.3

UMLS via Orphanet 73 C0268419 C2931868 Orphanet 59 ORPHA926 MedGen 42 C0268419 EFO 17 EFO_0004144 UMLS 72 C0268419 C2931868

Genetics Home Reference : ²⁵ Acatalasemia is a condition characterized by very low levels of an enzyme called catalase. Many people with acatalasemia never have any health problems related to the condition and are diagnosed because they have affected family members. Some of the first reported individuals with acatalasemia developed open sores (ulcers) inside the mouth that led to the death of soft tissue (gangrene). When mouth ulcers and gangrene occur with acatalasemia, the condition is known as Takahara disease. These complications are rarely seen in more recent cases of acatalasemia, probably because of improvements in oral hygiene. Studies suggest that people with acatalasemia have an increased risk of developing type 2 diabetes, which is the most common form of diabetes. A higher percentage of people with acatalasemia have type 2 diabetes than in the general population, and the disease tends to develop at an earlier age (in a person's thirties or forties, on average). Researchers speculate that acatalasemia could also be a risk factor for other common, complex diseases; however, only a small number of cases have been studied.

MalaCards based summary : Acatalasemia, also known as acatalasia, is related to chronic granulomatous disease and diabetes mellitus. An important gene associated with Acatalasemia is CAT (Catalase), and among its related pathways/superpathways are Tryptophan metabolism and Peroxisome. Affiliated tissues include liver, neutrophil and lung, and related phenotypes are oral ulcer and reduced catalase activity

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 926DefinitionA rare congenital disorder resulting from a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide.EpidemiologyThe disorder is very rare in the general population with an estimated prevalence of 1 in 31250.Clinical descriptionThe disorder is usually asymptomatic but may be associated with oral ulcerations and gangrene, or diabetes mellitus and atherosclerosis in certain populations.Genetic counselingTransmission is autosomal recessive.Visit the Orphanet disease page for more resources.

OMIM : ⁵⁷ 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 having Takahara disease. Half-normal levels of catalase in heterozygotes is referred to as hypocatalasemia or hypocatalasia (Ogata, 1991). (614097)

KEGG : ³⁷ Acatalasia is an autosomal recessive peroxisomal disorder caused by deficiency of erythrocyte catalase that metabolizes both hydrogen peroxide and a variety of substrates such as ethanol, methanol, phenol and nitrites. Catalase has an important protective function against the toxic effects of peroxides generated in peroxisomes and removes them with high efficiency. The Japanese, Swiss, and Hungarian types of acatalasemia display differences in biochemical and genetic aspects. Takahara's disease shows progressive oral gangrene and formerly occurred in about half of Japanese acatalasemia patients.

UniProtKB/Swiss-Prot : ⁷⁴ Acatalasemia: A metabolic disorder characterized by a total or near total loss of catalase activity in red cells. It is often associated with ulcerating oral lesions. Acatalasemia is inherited as an autosomal recessive trait.

Wikipedia : ⁷⁵ Acatalasia is an autosomal recessive peroxisomal disorder caused by absent or very low levels of the... more...

Clinical features from OMIM:

614097

Search Clinical Trials , NIH Clinical Center for Acatalasemia

Search GEO for disease gene expression data for Acatalasemia.