ACATLAS
MCID: ACT209
MIFTS: 44

Acatalasemia (ACATLAS)

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

Aliases & Classifications for Acatalasemia

MalaCards integrated aliases for Acatalasemia:

Name: Acatalasemia 56 74 52 25 58 73 36 13 54 39
Acatalasia 56 12 52 25 73 29 6 43 15 17 71
Catalase Deficiency 56 52 25 58 73 71
Deficiency of Catalase 12
Takahara's Disease 73
Takahara Disease 73
Acatlas 73

Characteristics:

Orphanet epidemiological data:

58
acatalasemia
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: All ages;

HPO:

31
acatalasemia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:2582
OMIM 56 614097
KEGG 36 H00203
MeSH 43 D020642
NCIt 49 C84526
SNOMED-CT 67 267454002
ICD10 via Orphanet 33 E80.3
UMLS via Orphanet 72 C0268419 C2931868
Orphanet 58 ORPHA926
MedGen 41 C0268419
UMLS 71 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 peroxisome biogenesis disorder 1a and vitiligo-associated multiple autoimmune disease susceptibility 1. 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 kidney, and related phenotypes are reduced catalase level and oral ulcer

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 926 Definition A rare congenital disorder resulting from a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide. Epidemiology The disorder is very rare in the general population with an estimated prevalence of 1 in 31250. Clinical description The disorder is usually asymptomatic but may be associated with oral ulcerations and gangrene, or diabetes mellitus and atherosclerosis in certain populations. Genetic counseling Transmission is autosomal recessive . Visit the Orphanet disease page for more resources.

OMIM : 56 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 : 36 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 : 73 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 : 74 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 62)
# Related Disease Score Top Affiliating Genes
1 peroxisome biogenesis disorder 1a 29.9 PEX5 PEX3
2 vitiligo-associated multiple autoimmune disease susceptibility 1 29.8 PRDX5 CAT
3 zellweger spectrum disorder 29.2 PEX5 PEX3
4 neonatal adrenoleukodystrophy 28.9 PEX5 PEX3 CAT
5 zellweger syndrome 28.3 SLC25A17 PEX5 PEX3 PEX11A CAT
6 adrenoleukodystrophy 28.3 SLC25A17 PEX5 PEX3 CAT
7 refsum disease, classic 27.8 SLC25A17 PEX5 PEX3 PEX11A CAT
8 peroxisomal disease 27.7 SLC25A17 PEX5 PEX3 PEX11A CAT
9 peroxisome biogenesis disorder 1b 27.7 SLC25A17 PEX5 PEX3 PEX11A CAT
10 diabetes mellitus 10.3
11 vitiligo-associated multiple autoimmune disease susceptibility 6 10.3
12 autosomal recessive disease 10.2
13 hepatorenal syndrome 10.2
14 hemosiderosis 10.2
15 hypertonia 10.2
16 atherosclerosis susceptibility 10.1
17 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.1
18 beta-thalassemia 10.1
19 deficiency anemia 10.1
20 renal fibrosis 10.1
21 thalassemia 10.1
22 methemoglobinemia 10.1
23 microcytic anemia 10.1
24 gestational diabetes 10.1
25 ureteral obstruction 10.1
26 periodontitis 10.1
27 age-related hearing loss 10.1
28 argyria 10.1
29 iron deficiency anemia 9.9 HBG2 CAT
30 aniridia 1 9.9
31 haemophilus influenzae 9.9
32 color blindness 9.9 PDE6H PDE6A
33 refsum disease, infantile form 9.8
34 atrial standstill 1 9.7
35 diabetes mellitus, noninsulin-dependent 9.7
36 fibrosis of extraocular muscles, congenital, 1 9.7
37 mental and growth retardation with amblyopia 9.7
38 hutchinson-gilford progeria syndrome 9.7
39 urate oxidase, pseudogene 9.7
40 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 9.7
41 cystic fibrosis 9.7
42 xeroderma pigmentosum, variant type 9.7
43 gonadoblastoma 9.7
44 aging 9.7
45 microvascular complications of diabetes 3 9.7
46 microvascular complications of diabetes 4 9.7
47 microvascular complications of diabetes 6 9.7
48 microvascular complications of diabetes 7 9.7
49 pertussis 9.7
50 hypertrophic cardiomyopathy 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:

31 58 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 reduced catalase level 31 hallmark (90%) HP:0012517
2 oral ulcer 58 31 frequent (33%) Frequent (79-30%) HP:0000155
3 type ii diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0005978
4 gingival bleeding 58 31 occasional (7.5%) Occasional (29-5%) HP:0000225
5 gingivitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000230
6 gangrene 58 31 occasional (7.5%) Occasional (29-5%) HP:0100758
7 microcytic anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001935
8 severe periodontitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000166
9 old-aged sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0040113
10 type i diabetes mellitus 58 31 very rare (1%) Very rare (<4-1%) HP:0100651
11 vitiligo 58 31 very rare (1%) Very rare (<4-1%) HP:0001045
12 schizophrenia 58 31 very rare (1%) Very rare (<4-1%) HP:0100753
13 parkinsonism 58 31 very rare (1%) Very rare (<4-1%) HP:0001300
14 pain 58 31 very rare (1%) Very rare (<4-1%) HP:0012531
15 arteriosclerosis 58 31 very rare (1%) Very rare (<4-1%) HP:0002634
16 neoplasm of the larynx 58 31 very rare (1%) Very rare (<4-1%) HP:0100605
17 premature loss of permanent teeth 58 31 very rare (1%) Very rare (<4-1%) HP:0006357
18 reduced catalase activity 58 Very frequent (99-80%)

Clinical features from OMIM:

614097

GenomeRNAi Phenotypes related to Acatalasemia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance GR00327-A 8.8 CAT GPX1 HBG2

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 Acatalasia 29 CAT

Anatomical Context for Acatalasemia

MalaCards organs/tissues related to Acatalasemia:

40
Liver, Neutrophil, Kidney, Lung, Testes

Publications for Acatalasemia

Articles related to Acatalasemia:

(show top 50) (show all 139)
# Title Authors PMID Year
1
Anovel catalase mutation (a GA insertion) causes the Hungarian type of acatalasemia. 56 6 54 61
11001624 2000
2
A novel human catalase mutation (358 T-->del) causing Japanese-type acatalasemia. 56 61 54
8673475 1995
3
Acatalasemia. 56 61 54
1999334 1991
4
Detection of a common mutation of the catalase gene in Japanese acatalasemic patients. 61 56
1551654 1992
5
Molecular analysis of an acatalasemic mouse mutant. 61 56
2268310 1990
6
Molecular analysis of human acatalasemia. Identification of a splicing mutation. 56 61
2308162 1990
7
Congenital acatalasemia: a study of neutrophil functions after provocation with hydrogen peroxide. 56 61
4069828 1985
8
GENETIC HETEROGENEITY IN HUMAN ACATALASIA. 56 61
14097235 1963
9
The frequency in Japan of carriers of the rare "recessive" gene causing acatalasemia. 56 61
13904105 1961
10
Hereditary catalase deficiencies and increased risk of diabetes. 56
11117918 2000
11
A DUAL HEREDITARY RED BLOOD CELL DEFECT IN ONE FAMILY: HYPOCATALASEMIA AND GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY. 56
14075877 1963
12
Mammalian acatalasemia: the perspectives of bioinformatics and genetic toxicology. 61 54
19122680 2008
13
Lack of peroxisomal catalase causes a progeric phenotype in Caenorhabditis elegans. 61 54
14996832 2004
14
A novel catalase mutation (a G insertion in exon 2) causes the type B of the Hungarian acatalasemia. 61 54
11603354 2001
15
A new type of inherited catalase deficiencies: its characterization and comparison to the Japanese and Swiss type of acatalasemia. 54 61
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. 61 54
11197178 2001
17
Redox-dependent catalase mimetic cerium oxide-based nanozyme protect human hepatic cells from 3-AT induced acatalasemia. 61
30583218 2019
18
Role of Catalase in Oxidative Stress- and Age-Associated Degenerative Diseases. 61
31827713 2019
19
[Bicentennial of catalase research, 1818-2018]. 61
29888660 2018
20
Acatalasia was omitted. 61
25869345 2015
21
[Acatalasemia and type 2 diabetes mellitus]. 61
25726767 2015
22
Further acatalasemia mutations in human patients from Hungary with diabetes and microcytic anemia. 61
25772105 2015
23
Long-term follow-up evaluation of an acatalasemia boy with severe periodontitis. 61
24522161 2014
24
Inherited catalase deficiency: is it benign or a factor in various age related disorders? 61
24025477 2013
25
A simple method for examination of polymorphisms of catalase exon 9: rs769217 in Hungarian microcytic anemia and beta-thalassemia patients. 61
22286031 2012
26
Acatalasemia and diabetes mellitus. 61
22365890 2012
27
Catalase -262C>T polymorphisms in Hungarian vitiligo patients and in controls: further acatalasemia mutations in Hungary. 61
21947853 2012
28
Decreased blood catalase activity is not related to specific beta-thalassemia mutations in Hungary. 61
21985133 2012
29
Development of angiotensin II-induced abdominal aortic aneurysms is independent of catalase in mice. 61
21885993 2011
30
Sensitization to alloxan-induced diabetes and pancreatic cell apoptosis in acatalasemic mice. 61
19883754 2010
31
Low catalase activity in blood is associated with the diabetes caused by alloxan. 61
19563792 2009
32
Increased susceptibility to oxidant-mediated tissue injury and peritoneal fibrosis in acatalasemic mice. 61
18337633 2008
33
Catalase deficiency renders remnant kidneys more susceptible to oxidant tissue injury and renal fibrosis in mice. 61
16105032 2005
34
Detection of a novel familial catalase mutation (Hungarian type D) and the possible risk of inherited catalase deficiency for diabetes mellitus. 61
15800961 2005
35
Methemoglobinemia from hydrogen peroxide in a patient with acatalasemia. 61
15220799 2004
36
Acatalasemia sensitizes renal tubular epithelial cells to apoptosis and exacerbates renal fibrosis after unilateral ureteral obstruction. 61
14722014 2004
37
Catalase enzyme mutations and their association with diseases. 61
15771551 2004
38
[Peroxisomal hereditary metabolic disorders]. 61
11766453 2001
39
Molecular basis of D-bifunctional protein deficiency. 61
11165012 2001
40
Lipid and carbohydrate metabolism in acatalasemia. 61
10759482 2000
41
[Acatalasemia--Takahara's disease]. 61
10460304 1999
42
Catalase as a regulator of the propensity to ingest alcohol in genetically determined acatalasemic individuals from Israel. 61
20575789 1999
43
Genetic heterogeneity of the 5' uncoding region of the catalase gene in Hungarian acatalasemic and hypocatalasemic subjects. 61
9564558 1998
44
[Acatalasemia, Takahara disease]. 61
9645075 1998
45
Further genetic heterogeneity in acatalasemia. 61
9420149 1997
46
Polymorphism of 5' of the catalase gene in Hungarian acatalasemia and hypocatalasemia. 61
9237564 1997
47
Genetic heterogeneity in acatalasemia. 61
8874054 1996
48
Hungarian hereditary acatalasemia and hypocatalasemia are not associated with chronic hemolysis. 61
7758204 1995
49
Further characterization of Hungarian acatalasemia by Hinf1 polymorphism of catalase gene. 61
7916241 1993
50
Two cases of acatalasemia in Hungary. 61
1591863 1992

Variations for Acatalasemia

ClinVar genetic disease variations for Acatalasemia:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CAT CAT, 2-BP INS, 138GAinsertion Pathogenic 29622

Expression for Acatalasemia

Search GEO for disease gene expression data for Acatalasemia.

Pathways for Acatalasemia

Pathways related to Acatalasemia according to KEGG:

36
# Name Kegg Source Accession
1 Tryptophan metabolism hsa00380
2 Peroxisome hsa04146

Pathways related to Acatalasemia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.13 PDE6H PDE6A GPX1 CAT
2 12.07 PEX5 GPX1 CAT
3
Show member pathways
11.83 PRDX5 GPX1 CAT
4 11.02 SLC25A17 PRDX5 PEX5 PEX3 PEX11A CAT
5
Show member pathways
10.97 GPX1 CAT
6
Show member pathways
10.87 PRDX5 GPX1 CAT
7 10.75 GPX1 CAT

GO Terms for Acatalasemia

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

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 9.56 PEX5 PEX3 PEX11A CAT
2 peroxisomal membrane GO:0005778 9.35 SLC25A17 PEX5 PEX3 PEX11A CAT
3 integral component of peroxisomal membrane GO:0005779 9.33 SLC25A17 PEX3 PEX11A
4 peroxisomal matrix GO:0005782 9.32 PRDX5 CAT
5 peroxisome GO:0005777 9.1 SLC25A17 PRDX5 PEX5 PEX3 PEX11A CAT

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 response to oxidative stress GO:0006979 9.61 PRDX5 GPX1 CAT
2 cellular response to oxidative stress GO:0034599 9.54 PRDX5 GPX1 CAT
3 protein targeting to peroxisome GO:0006625 9.52 PEX5 CAT
4 response to hydrogen peroxide GO:0042542 9.51 GPX1 CAT
5 fatty acid beta-oxidation GO:0006635 9.49 SLC25A17 PEX5
6 triglyceride metabolic process GO:0006641 9.48 GPX1 CAT
7 response to reactive oxygen species GO:0000302 9.46 GPX1 CAT
8 UV protection GO:0009650 9.4 GPX1 CAT
9 peroxisome organization GO:0007031 9.33 PEX5 PEX3 PEX11A
10 protein import into peroxisome membrane GO:0045046 9.32 PEX5 PEX3
11 peroxisome membrane biogenesis GO:0016557 9.26 PEX3 PEX11A
12 cellular oxidant detoxification GO:0098869 9.26 PRDX5 HBG2 GPX1 CAT
13 hydrogen peroxide catabolic process GO:0042744 8.92 PRDX5 HBG2 GPX1 CAT

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

# Name GO ID Score Top Affiliating Genes
1 3',5'-cyclic-nucleotide phosphodiesterase activity GO:0004114 9.32 PDE6H PDE6A
2 antioxidant activity GO:0016209 9.26 PRDX5 CAT
3 3',5'-cyclic-GMP phosphodiesterase activity GO:0047555 9.16 PDE6H PDE6A
4 peroxisome targeting sequence binding GO:0000268 8.96 PEX5 CAT
5 peroxidase activity GO:0004601 8.92 PRDX5 HBG2 GPX1 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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