ACATLAS
MCID: ACT209
MIFTS: 37

Acatalasemia (ACATLAS)

Categories: Genetic diseases, Metabolic diseases, Oral diseases, Rare diseases

Aliases & Classifications for Acatalasemia

MalaCards integrated aliases for Acatalasemia:

Name: Acatalasemia 57 75 53 25 59 74 37 29 13 55 6 40
Acatalasia 57 12 53 25 74 44 15 17 72
Catalase Deficiency 57 53 25 59 74 72
Deficiency of Catalase 12
Takahara's Disease 74
Takahara Disease 74
Acatlas 74

Characteristics:

Orphanet epidemiological data:

59
acatalasemia
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: All ages;

HPO:

32
acatalasemia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

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
UMLS 72 C0268419 C2931868

Summaries for Acatalasemia

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...

Related Diseases for Acatalasemia

Diseases related to Acatalasemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 chronic granulomatous disease 27.8 MT-CYB HBG2 CAT
2 diabetes mellitus 10.3
3 vitiligo-associated multiple autoimmune disease susceptibility 6 10.2
4 vitiligo-associated multiple autoimmune disease susceptibility 1 10.2
5 peroxisome biogenesis disorder 1a 10.2
6 autosomal recessive disease 10.2
7 hepatorenal syndrome 10.2
8 hemosiderosis 10.2
9 zellweger syndrome 10.2
10 hypertonia 10.2
11 atherosclerosis susceptibility 10.1
12 beta-thalassemia 10.1
13 deficiency anemia 10.1
14 renal fibrosis 10.1
15 thalassemia 10.1
16 methemoglobinemia 10.1
17 microcytic anemia 10.1
18 gestational diabetes 10.1
19 ureteral obstruction 10.1
20 periodontitis 10.1
21 age-related hearing loss 10.1
22 argyria 10.1
23 aniridia 1 9.9
24 haemophilus influenzae 9.9
25 refsum disease, classic 9.8
26 refsum disease, infantile form 9.8
27 atrial standstill 1 9.7
28 diabetes mellitus, noninsulin-dependent 9.7
29 fibrosis of extraocular muscles, congenital, 1 9.7
30 mental and growth retardation with amblyopia 9.7
31 urate oxidase, pseudogene 9.7
32 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 9.7
33 cystic fibrosis 9.7
34 xeroderma pigmentosum, variant type 9.7
35 adrenoleukodystrophy 9.7
36 gonadoblastoma 9.7
37 aging 9.7
38 peroxisome biogenesis disorder 1b 9.7
39 microvascular complications of diabetes 3 9.7
40 microvascular complications of diabetes 4 9.7
41 microvascular complications of diabetes 6 9.7
42 microvascular complications of diabetes 7 9.7
43 pertussis 9.7
44 arteriosclerosis 9.7
45 skin carcinoma 9.7
46 hyperglycemia 9.7
47 hemolytic anemia 9.7
48 peroxisomal disease 9.7
49 hypertrophic cardiomyopathy 9.7
50 zellweger spectrum disorder 9.7

Graphical network of the top 20 diseases related to Acatalasemia:



Diseases related to Acatalasemia

Symptoms & Phenotypes for Acatalasemia

Human phenotypes related to Acatalasemia:

32
# Description HPO Frequency HPO Source Accession
1 oral ulcer 32 HP:0000155
2 reduced catalase activity 32 HP:0012517

Clinical features from OMIM:

614097

Drugs & Therapeutics for Acatalasemia

Search Clinical Trials , NIH Clinical Center for Acatalasemia

Cochrane evidence based reviews: acatalasia

Genetic Tests for Acatalasemia

Genetic tests related to Acatalasemia:

# Genetic test Affiliating Genes
1 Acatalasemia 29 CAT

Anatomical Context for Acatalasemia

MalaCards organs/tissues related to Acatalasemia:

41
Liver, Neutrophil, Lung, Testes, Kidney

Publications for Acatalasemia

Articles related to Acatalasemia:

(show top 50) (show all 138)
# Title Authors PMID Year
1
Anovel catalase mutation (a GA insertion) causes the Hungarian type of acatalasemia. 9 38 8 71
11001624 2000
2
A novel human catalase mutation (358 T-->del) causing Japanese-type acatalasemia. 9 38 8
8673475 1995
3
Acatalasemia. 9 38 8
1999334 1991
4
Detection of a common mutation of the catalase gene in Japanese acatalasemic patients. 38 8
1551654 1992
5
Molecular analysis of an acatalasemic mouse mutant. 38 8
2268310 1990
6
Molecular analysis of human acatalasemia. Identification of a splicing mutation. 38 8
2308162 1990
7
Congenital acatalasemia: a study of neutrophil functions after provocation with hydrogen peroxide. 38 8
4069828 1985
8
GENETIC HETEROGENEITY IN HUMAN ACATALASIA. 38 8
14097235 1963
9
The frequency in Japan of carriers of the rare "recessive" gene causing acatalasemia. 38 8
13904105 1961
10
Hereditary catalase deficiencies and increased risk of diabetes. 8
11117918 2000
11
A DUAL HEREDITARY RED BLOOD CELL DEFECT IN ONE FAMILY: HYPOCATALASEMIA AND GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY. 8
14075877 1963
12
Mammalian acatalasemia: the perspectives of bioinformatics and genetic toxicology. 9 38
19122680 2008
13
Lack of peroxisomal catalase causes a progeric phenotype in Caenorhabditis elegans. 9 38
14996832 2004
14
A novel catalase mutation (a G insertion in exon 2) causes the type B of the Hungarian acatalasemia. 9 38
11603354 2001
15
A new type of inherited catalase deficiencies: its characterization and comparison to the Japanese and Swiss type of acatalasemia. 9 38
11500062 2001
16
A novel catalase mutation detected by polymerase chain reaction-single strand conformation polymorphism, nucleotide sequencing, and western blot analyses is responsible for the type C of Hungarian acatalasemia. 9 38
11197178 2001
17
Redox-dependent catalase mimetic cerium oxide-based nanozyme protect human hepatic cells from 3-AT induced acatalasemia. 38
30583218 2019
18
[Bicentennial of catalase research, 1818-2018]. 38
29888660 2018
19
Acatalasia was omitted. 38
25869345 2015
20
[Acatalasemia and type 2 diabetes mellitus]. 38
25726767 2015
21
Further acatalasemia mutations in human patients from Hungary with diabetes and microcytic anemia. 38
25772105 2015
22
Long-term follow-up evaluation of an acatalasemia boy with severe periodontitis. 38
24522161 2014
23
Inherited catalase deficiency: is it benign or a factor in various age related disorders? 38
24025477 2013
24
A simple method for examination of polymorphisms of catalase exon 9: rs769217 in Hungarian microcytic anemia and beta-thalassemia patients. 38
22286031 2012
25
Acatalasemia and diabetes mellitus. 38
22365890 2012
26
Decreased blood catalase activity is not related to specific beta-thalassemia mutations in Hungary. 38
21985133 2012
27
Catalase -262C>T polymorphisms in Hungarian vitiligo patients and in controls: further acatalasemia mutations in Hungary. 38
21947853 2012
28
Development of angiotensin II-induced abdominal aortic aneurysms is independent of catalase in mice. 38
21885993 2011
29
Sensitization to alloxan-induced diabetes and pancreatic cell apoptosis in acatalasemic mice. 38
19883754 2010
30
Low catalase activity in blood is associated with the diabetes caused by alloxan. 38
19563792 2009
31
Increased susceptibility to oxidant-mediated tissue injury and peritoneal fibrosis in acatalasemic mice. 38
18337633 2008
32
Catalase deficiency renders remnant kidneys more susceptible to oxidant tissue injury and renal fibrosis in mice. 38
16105032 2005
33
Detection of a novel familial catalase mutation (Hungarian type D) and the possible risk of inherited catalase deficiency for diabetes mellitus. 38
15800961 2005
34
Methemoglobinemia from hydrogen peroxide in a patient with acatalasemia. 38
15220799 2004
35
Acatalasemia sensitizes renal tubular epithelial cells to apoptosis and exacerbates renal fibrosis after unilateral ureteral obstruction. 38
14722014 2004
36
Catalase enzyme mutations and their association with diseases. 38
15771551 2004
37
[Peroxisomal hereditary metabolic disorders]. 38
11766453 2001
38
Molecular basis of D-bifunctional protein deficiency. 38
11165012 2001
39
Lipid and carbohydrate metabolism in acatalasemia. 38
10759482 2000
40
[Acatalasemia--Takahara's disease]. 38
10460304 1999
41
Catalase as a regulator of the propensity to ingest alcohol in genetically determined acatalasemic individuals from Israel. 38
20575789 1999
42
Genetic heterogeneity of the 5' uncoding region of the catalase gene in Hungarian acatalasemic and hypocatalasemic subjects. 38
9564558 1998
43
[Acatalasemia, Takahara disease]. 38
9645075 1998
44
Further genetic heterogeneity in acatalasemia. 38
9420149 1997
45
Polymorphism of 5' of the catalase gene in Hungarian acatalasemia and hypocatalasemia. 38
9237564 1997
46
Genetic heterogeneity in acatalasemia. 38
8874054 1996
47
Hungarian hereditary acatalasemia and hypocatalasemia are not associated with chronic hemolysis. 38
7758204 1995
48
Further characterization of Hungarian acatalasemia by Hinf1 polymorphism of catalase gene. 38
7916241 1993
49
Two cases of acatalasemia in Hungary. 38
1591863 1992
50
Characterization of acatalasemia detected in two Hungarian sisters. 38
1292935 1992

Variations for Acatalasemia

ClinVar genetic disease variations for Acatalasemia:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CAT CAT, 2-BP INS, 138GA insertion Pathogenic

Expression for Acatalasemia

Search GEO for disease gene expression data for Acatalasemia.

Pathways for Acatalasemia

Pathways related to Acatalasemia according to KEGG:

37
# Name Kegg Source Accession
1 Tryptophan metabolism hsa00380
2 Peroxisome hsa04146

GO Terms for Acatalasemia

Cellular components related to Acatalasemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 8.62 HBG2 FN1

Biological processes related to Acatalasemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to ethanol GO:0045471 9.48 MT-CYB CAT
2 response to toxic substance GO:0009636 9.46 MT-CYB CAT
3 cellular oxidant detoxification GO:0098869 9.43 HBG2 CAT
4 response to hormone GO:0009725 9.4 MT-CYB MB
5 response to hydrogen peroxide GO:0042542 9.37 MB CAT
6 hydrogen peroxide catabolic process GO:0042744 9.32 HBG2 CAT
7 response to cadmium ion GO:0046686 9.26 MT-CYB CAT
8 oxygen transport GO:0015671 9.16 MB HBG2
9 response to hypoxia GO:0001666 9.13 MT-CYB MB CAT
10 response to hyperoxia GO:0055093 8.62 MT-CYB CAT

Molecular functions related to Acatalasemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxygen binding GO:0019825 9.26 MB HBG2
2 peroxidase activity GO:0004601 9.16 HBG2 CAT
3 oxygen carrier activity GO:0005344 8.96 MB HBG2
4 heme binding GO:0020037 8.8 MB HBG2 CAT

Sources for Acatalasemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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