ACATLAS
MCID: ACT209
MIFTS: 36

Acatalasemia (ACATLAS)

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

Aliases & Classifications for Acatalasemia

MalaCards integrated aliases for Acatalasemia:

Name: Acatalasemia 58 77 54 26 60 76 38 30 13 56 6 41
Acatalasia 58 12 54 26 76 45 15 17 74
Catalase Deficiency 58 54 26 60 76 74
Deficiency of Catalase 12
Takahara's Disease 76
Takahara Disease 76
Catalase 13
Acatlas 76

Characteristics:

Orphanet epidemiological data:

60
acatalasemia
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: All ages;

HPO:

33
acatalasemia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:2582
OMIM 58 614097
KEGG 38 H00203
MeSH 45 D020642
NCIt 51 C84526
ICD10 via Orphanet 35 E80.3
UMLS via Orphanet 75 C0268419 C2931868
Orphanet 60 ORPHA926
MedGen 43 C0268419
SNOMED-CT via HPO 70 258211005 26284000

Summaries for Acatalasemia

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 926Disease definitionAcatalasemia is a 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.

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

Genetics Home Reference : 26 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.

OMIM : 58 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)

UniProtKB/Swiss-Prot : 76 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 : 77 Acatalasia is an autosomal recessive peroxisomal disorder caused by absent or very low levels of the... more...

Related Diseases for Acatalasemia

Graphical network of the top 20 diseases related to Acatalasemia:



Diseases related to Acatalasemia

Symptoms & Phenotypes for Acatalasemia

Human phenotypes related to Acatalasemia:

33
# Description HPO Frequency HPO Source Accession
1 oral ulcer 33 HP:0000155
2 reduced catalase activity 33 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 30 CAT

Anatomical Context for Acatalasemia

MalaCards organs/tissues related to Acatalasemia:

42
Liver, Lung, Kidney, Neutrophil

Publications for Acatalasemia

Articles related to Acatalasemia:

(show top 50) (show all 83)
# Title Authors Year
1
Redox-dependent catalase mimetic cerium oxide-based nanozyme protect human hepatic cells from 3-AT induced acatalasemia. ( 30583218 )
2019
2
Further acatalasemia mutations in human patients from Hungary with diabetes and microcytic anemia. ( 25772105 )
2015
3
Acatalasia was omitted. ( 25869345 )
2015
4
Long-term follow-up evaluation of an acatalasemia boy with severe periodontitis. ( 24522161 )
2014
5
Catalase -262C>T polymorphisms in Hungarian vitiligo patients and in controls: further acatalasemia mutations in Hungary. ( 21947853 )
2012
6
Acatalasemia and diabetes mellitus. ( 22365890 )
2012
7
Mammalian acatalasemia: the perspectives of bioinformatics and genetic toxicology. ( 19122680 )
2008
8
Catalase deficiency may complicate urate oxidase (rasburicase) therapy. ( 17729111 )
2007
9
Catalase deficiency renders remnant kidneys more susceptible to oxidant tissue injury and renal fibrosis in mice. ( 16105032 )
2005
10
Detection of a novel familial catalase mutation (Hungarian type D) and the possible risk of inherited catalase deficiency for diabetes mellitus. ( 15800961 )
2005
11
Acatalasemia sensitizes renal tubular epithelial cells to apoptosis and exacerbates renal fibrosis after unilateral ureteral obstruction. ( 14722014 )
2004
12
Methemoglobinemia from hydrogen peroxide in a patient with acatalasemia. ( 15220799 )
2004
13
The effects of hydrogen peroxide promoted by homocysteine and inherited catalase deficiency on human hypocatalasemic patients. ( 14556852 )
2003
14
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. ( 11197178 )
2001
15
A new type of inherited catalase deficiencies: its characterization and comparison to the Japanese and Swiss type of acatalasemia. ( 11500062 )
2001
16
A novel catalase mutation (a G insertion in exon 2) causes the type B of the Hungarian acatalasemia. ( 11603354 )
2001
17
Relationship between posttranslational modification of transaldolase and catalase deficiency in UV-sensitive repair-deficient xeroderma pigmentosum fibroblasts and SV40-transformed human cells. ( 11390181 )
2001
18
Lipid and carbohydrate metabolism in acatalasemia. ( 10759482 )
2000
19
Anovel catalase mutation (a GA insertion) causes the Hungarian type of acatalasemia. ( 11001624 )
2000
20
Polymorphism of 5' of the catalase gene in Hungarian acatalasemia and hypocatalasemia. ( 9237564 )
1997
21
Further genetic heterogeneity in acatalasemia. ( 9420149 )
1997
22
Genetic heterogeneity in acatalasemia. ( 8874054 )
1996
23
Hungarian hereditary acatalasemia and hypocatalasemia are not associated with chronic hemolysis. ( 7758204 )
1995
24
A novel human catalase mutation (358 T-->del) causing Japanese-type acatalasemia. ( 8673475 )
1995
25
Further characterization of Hungarian acatalasemia by Hinf1 polymorphism of catalase gene. ( 7916241 )
1993
26
Increased formation of 8-hydroxydeoxyguanosine, an oxidative DNA damage, in lymphoblasts from Fanconi's anemia patients due to possible catalase deficiency. ( 8389671 )
1993
27
Characterization of acatalasemia detected in two Hungarian sisters. ( 1292935 )
1992
28
Immunotitration of the catalase in the blood of Japanese subjects and mice suffering from acatalasemia and hypocatalasemia. ( 1296208 )
1992
29
Two cases of acatalasemia in Hungary. ( 1591863 )
1992
30
Acatalasemia. ( 1999334 )
1991
31
Methemoglobin formation in the blood of Japanese subjects and mice suffering from acatalasemia in response to methemoglobin inducers. ( 2093192 )
1990
32
Molecular analysis of human acatalasemia. Identification of a splicing mutation. ( 2308162 )
1990
33
Diminished synthesis of catalase due to the decrease in catalase mRNA in Japanese-type acatalasemia. ( 3244798 )
1988
34
Molecular defect in human acatalasia fibroblasts. ( 3377795 )
1988
35
Acatalasia discovered by accident during a disk operation. ( 3382341 )
1988
36
Congenital acatalasemia: a study of neutrophil functions after provocation with hydrogen peroxide. ( 4069828 )
1985
37
The oxidation of metallic mercury by catalase in relation to acatalasemia. ( 6317620 )
1983
38
Polyacrylamide gradient gel electrophoretic studies of residual catalase in acatalasemia. ( 6647570 )
1983
39
Properties of catalase subfractions separated by chromatofocusing of acatalasemia hemolysates. ( 7064736 )
1982
40
Heterogeneity of erythrocyte catalase in Japanese-type acatalasemia by electrofocusing. ( 7103929 )
1982
41
Immunological properties of erythrocyte catalase in Japanese type acatalasemia. ( 7136855 )
1982
42
Association of del(11)(p15.1p12), aniridia, catalase deficiency, and cardiomyopathy. ( 6127950 )
1982
43
Organ distribution of mercury vapor inhaled by acatalasemia and hypocatalasemia mice. ( 7309575 )
1981
44
Properties of erythrocyte catalase from heterozygotes for Japanese type acatalasemia. ( 40400 )
1979
45
Properties of residual catalase in the erythrocytes of Japanese-type acatalasemia. ( 468233 )
1979
46
Acatalasia in two Peruvian siblings. ( 120431 )
1979
47
Mercury uptake by acatalasemia mice and their erythrocytes, lung and liver homogenates. ( 631910 )
1978
48
Molecular hybridization in heterozygotes for Swiss-type acatalasemia. ( 723894 )
1978
49
Erythrocyte metabolism against oxidation in Japanese acatalasemia. ( 723895 )
1978
50
Activities of catalase in leucocytes and glucose-6-phosphate dehydrogenase in erythrocytes of hypocatalasemia and acatalasemia. ( 918959 )
1977

Variations for Acatalasemia

ClinVar genetic disease variations for Acatalasemia:

6
# Gene Variation Type Significance SNP ID Assembly Location
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:

38
# 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 FN1 HBG2

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.69 CAT DECR1 MT-CYB
2 response to ethanol GO:0045471 9.49 CAT MT-CYB
3 response to toxic substance GO:0009636 9.48 CAT MT-CYB
4 cellular oxidant detoxification GO:0098869 9.46 CAT HBG2
5 protein homotetramerization GO:0051289 9.43 CAT DECR1
6 response to hormone GO:0009725 9.4 MB MT-CYB
7 response to hydrogen peroxide GO:0042542 9.37 CAT MB
8 response to hypoxia GO:0001666 9.33 CAT MB MT-CYB
9 hydrogen peroxide catabolic process GO:0042744 9.32 CAT HBG2
10 response to cadmium ion GO:0046686 9.26 CAT MT-CYB
11 oxygen transport GO:0015671 8.96 HBG2 MB
12 response to hyperoxia GO:0055093 8.62 CAT MT-CYB

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.5 CAT DECR1 MT-CYB
2 oxygen binding GO:0019825 9.26 HBG2 MB
3 peroxidase activity GO:0004601 9.16 CAT HBG2
4 oxygen carrier activity GO:0005344 8.96 HBG2 MB
5 heme binding GO:0020037 8.8 CAT HBG2 MB

Sources for Acatalasemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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