MCID: ACT209
MIFTS: 33

Acatalasemia

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Acatalasemia

MalaCards integrated aliases for Acatalasemia:

Name: Acatalasemia 53 72 49 24 55 71 28 13 51
Acatalasia 53 12 49 24 71 36 41 14 69
Catalase Deficiency 53 49 24 55 71 69
Deficiency of Catalase 12
Takahara's Disease 71
Takahara Disease 71
Catalase 13
Acatlas 71

Characteristics:

Orphanet epidemiological data:

55
acatalasemia
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: All ages;

HPO:

31
acatalasemia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 55  
Inborn errors of metabolism


External Ids:

OMIM 53 614097
Disease Ontology 12 DOID:2582
MeSH 41 D020642
NCIt 46 C84526
Orphanet 55 ORPHA926
UMLS via Orphanet 70 C0268419 C2931868
ICD10 via Orphanet 33 E80.3
MedGen 39 C0268419
KEGG 36 H00203
SNOMED-CT via HPO 65 258211005 26284000

Summaries for Acatalasemia

NIH Rare Diseases : 49 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. Last updated: 6/23/2006

MalaCards based summary : Acatalasemia, also known as acatalasia, is related to hepatitis and hemosiderosis, and has symptoms including oral ulcer and reduced catalase activity. An important gene associated with Acatalasemia is CAT (Catalase), and among its related pathways/superpathways are Tryptophan metabolism and Peroxisome. Related phenotype is Increased shRNA abundance.

Genetics Home Reference : 24 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 : 53 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 : 71 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.

Wikipedia : 72 Acatalasia (also called acatalasemia, or Takahara\'s disease) is an autosomal recessive peroxisomal... more...

Related Diseases for Acatalasemia

Graphical network of the top 20 diseases related to Acatalasemia:



Diseases related to Acatalasemia

Symptoms & Phenotypes for Acatalasemia

Clinical features from OMIM:

614097

Human phenotypes related to Acatalasemia:

31 (showing 2, show less)
# Description HPO Frequency HPO Source Accession
1 oral ulcer 31 HP:0000155
2 reduced catalase activity 31 HP:0012517

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

25 (showing 1, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance GR00327-A 8.62 HBG2 CAT

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 28 CAT

Anatomical Context for Acatalasemia

Publications for Acatalasemia

Articles related to Acatalasemia:

(showing 33, show less)
# Title Authors Year
1
Further acatalasemia mutations in human patients from Hungary with diabetes and microcytic anemia. ( 25772105 )
2015
2
Long-term follow-up evaluation of an acatalasemia boy with severe periodontitis. ( 24522161 )
2014
3
Acatalasemia and diabetes mellitus. ( 22365890 )
2012
4
Catalase -262C>T polymorphisms in Hungarian vitiligo patients and in controls: further acatalasemia mutations in Hungary. ( 21947853 )
2012
5
Altered methanol embryopathies in embryo culture with mutant catalase-deficient mice and transgenic mice expressing human catalase. ( 21295602 )
2011
6
Mammalian acatalasemia: the perspectives of bioinformatics and genetic toxicology. ( 19122680 )
2008
7
Catalase deficiency may complicate urate oxidase (rasburicase) therapy. ( 17729111 )
2007
8
Detection of a novel familial catalase mutation (Hungarian type D) and the possible risk of inherited catalase deficiency for diabetes mellitus. ( 15800961 )
2005
9
Methemoglobinemia from hydrogen peroxide in a patient with acatalasemia. ( 15220799 )
2004
10
Acatalasemia sensitizes renal tubular epithelial cells to apoptosis and exacerbates renal fibrosis after unilateral ureteral obstruction. ( 14722014 )
2004
11
The effects of hydrogen peroxide promoted by homocysteine and inherited catalase deficiency on human hypocatalasemic patients. ( 14556852 )
2003
12
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
13
A new type of inherited catalase deficiencies: its characterization and comparison to the Japanese and Swiss type of acatalasemia. ( 11500062 )
2001
14
Relationship between posttranslational modification of transaldolase and catalase deficiency in UV-sensitive repair-deficient xeroderma pigmentosum fibroblasts and SV40-transformed human cells. ( 11390181 )
2001
15
A novel catalase mutation (a G insertion in exon 2) causes the type B of the Hungarian acatalasemia. ( 11603354 )
2001
16
Lipid and carbohydrate metabolism in acatalasemia. ( 10759482 )
2000
17
Anovel catalase mutation (a GA insertion) causes the Hungarian type of acatalasemia. ( 11001624 )
2000
18
Virulence of catalase-deficient aspergillus nidulans in p47(phox)-/- mice. Implications for fungal pathogenicity and host defense in chronic granulomatous disease. ( 9576747 )
1998
19
Further genetic heterogeneity in acatalasemia. ( 9420149 )
1997
20
Polymorphism of 5' of the catalase gene in Hungarian acatalasemia and hypocatalasemia. ( 9237564 )
1997
21
Genetic heterogeneity in acatalasemia. ( 8874054 )
1996
22
Hungarian hereditary acatalasemia and hypocatalasemia are not associated with chronic hemolysis. ( 7758204 )
1995
23
A novel human catalase mutation (358 T-->del) causing Japanese-type acatalasemia. ( 8673475 )
1995
24
Increased formation of 8-hydroxydeoxyguanosine, an oxidative DNA damage, in lymphoblasts from Fanconi's anemia patients due to possible catalase deficiency. ( 8389671 )
1993
25
Further characterization of Hungarian acatalasemia by Hinf1 polymorphism of catalase gene. ( 7916241 )
1993
26
Pseudo infantile Refsum's disease: catalase-deficient peroxisomal particles with partial deficiency of plasmalogen synthesis and oxidation of fatty acids. ( 7510868 )
1993
27
Immunotitration of the catalase in the blood of Japanese subjects and mice suffering from acatalasemia and hypocatalasemia. ( 1296208 )
1992
28
Two cases of acatalasemia in Hungary. ( 1591863 )
1992
29
Acatalasemia. ( 1999334 )
1991
30
Methemoglobin formation in the blood of Japanese subjects and mice suffering from acatalasemia in response to methemoglobin inducers. ( 2093192 )
1990
31
Molecular analysis of human acatalasemia. Identification of a splicing mutation. ( 2308162 )
1990
32
Association of del(11)(p15.1p12), aniridia, catalase deficiency, and cardiomyopathy. ( 6127950 )
1982
33
The frequency in Japan of carriers of the rare "recessive" gene causing acatalasemia. ( 13904105 )
1961

Variations for Acatalasemia

ClinVar genetic disease variations for Acatalasemia:

6 (showing 1, show less)
# 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:

36
(showing 2, show less)
# Name Kegg Source Accession
1 Tryptophan metabolism hsa00380
2 Peroxisome hsa04146

GO Terms for Acatalasemia

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

(showing 7, show less)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.4 CAT MT-CYB
2 response to drug GO:0042493 9.37 CAT MT-CYB
3 response to hypoxia GO:0001666 9.32 CAT MT-CYB
4 response to ethanol GO:0045471 9.26 CAT MT-CYB
5 response to toxic substance GO:0009636 9.16 CAT MT-CYB
6 response to cadmium ion GO:0046686 8.96 CAT MT-CYB
7 response to hyperoxia GO:0055093 8.62 CAT MT-CYB

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

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 8.96 CAT MT-CYB
2 heme binding GO:0020037 8.62 CAT HBG2

Sources for Acatalasemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....