MCID: ACT209
MIFTS: 34

Acatalasemia

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Acatalasemia

MalaCards integrated aliases for Acatalasemia:

Name: Acatalasemia 57 76 53 25 59 75 37 29 13 55 6 40
Acatalasia 57 12 53 25 75 44 15 73
Catalase Deficiency 57 53 25 59 75 73
Deficiency of Catalase 12
Takahara's Disease 75
Takahara Disease 75
Catalase 13
Acatlas 75

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:

OMIM 57 614097
Disease Ontology 12 DOID:2582
MeSH 44 D020642
NCIt 50 C84526
Orphanet 59 ORPHA926
UMLS via Orphanet 74 C0268419 C2931868
ICD10 via Orphanet 34 E80.3
MedGen 42 C0268419
KEGG 37 H00203
SNOMED-CT via HPO 69 258211005 26284000

Summaries for Acatalasemia

NIH Rare Diseases : 53 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 hepatitis. An important gene associated with Acatalasemia is CAT (Catalase), and among its related pathways/superpathways are Tryptophan metabolism and Peroxisome. Affiliated tissues include kidney, and related phenotypes are oral ulcer and reduced catalase activity

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)

UniProtKB/Swiss-Prot : 75 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.

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.

Wikipedia : 76 Acatalasia (also called acatalasemia, or Takahara\'s disease) is an autosomal recessive peroxisomal... more...

Related Diseases for Acatalasemia

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

(showing 17, show less)
# Related Disease Score Top Affiliating Genes
1 chronic granulomatous disease 27.1 CAT HBG2 MT-CYB
2 hepatitis 9.9
3 hemosiderosis 9.9
4 zellweger syndrome 9.9
5 diabetes mellitus 9.9
6 renal fibrosis 9.9
7 methemoglobinemia 9.9
8 microcytic anemia 9.9
9 ureteral obstruction 9.9
10 periodontitis 9.9
11 refsum disease, classic 9.6
12 adrenoleukodystrophy 9.6
13 peroxisome biogenesis disorder 1b 9.6
14 neonatal adrenoleukodystrophy 9.6
15 refsum disease, infantile form 9.6
16 xeroderma pigmentosum, variant type 9.6
17 deficiency anemia 8.9 CAT HBG2

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:

32 (showing 2, show less)
# Description HPO Frequency HPO Source Accession
1 oral ulcer 32 HP:0000155
2 reduced catalase activity 32 HP:0012517

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

26 (showing 1, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance GR00327-A 8.62 CAT 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 Acatalasemia 29 CAT

Anatomical Context for Acatalasemia

MalaCards organs/tissues related to Acatalasemia:

41
Kidney

Publications for Acatalasemia

Articles related to Acatalasemia:

(showing 39, 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
Catalase deficiency renders remnant kidneys more susceptible to oxidant tissue injury and renal fibrosis in mice. ( 16105032 )
2005
10
Methemoglobinemia from hydrogen peroxide in a patient with acatalasemia. ( 15220799 )
2004
11
The effects of Pycnogenol on DNA damage in vitro and expression of superoxide dismutase and HP1 in Escherichia coli SOD and catalase deficient mutant cells. ( 15597332 )
2004
12
Acatalasemia sensitizes renal tubular epithelial cells to apoptosis and exacerbates renal fibrosis after unilateral ureteral obstruction. ( 14722014 )
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 (a G insertion in exon 2) causes the type B of the Hungarian acatalasemia. ( 11603354 )
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 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
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
Anovel catalase mutation (a GA insertion) causes the Hungarian type of acatalasemia. ( 11001624 )
2000
19
Lipid and carbohydrate metabolism in acatalasemia. ( 10759482 )
2000
20
New phenolic antioxidants of PYA and PYE class increase the resistance S. cerevisiae strain SP4, its SOD- and catalase-deficient mutants to lipophilic oxidants. ( 11097024 )
1999
21
Virulence of catalase-deficient aspergillus nidulans in p47(phox)-/- mice. Implications for fungal pathogenicity and host defense in chronic granulomatous disease. ( 9576747 )
1998
22
Polymorphism of 5' of the catalase gene in Hungarian acatalasemia and hypocatalasemia. ( 9237564 )
1997
23
Further genetic heterogeneity in acatalasemia. ( 9420149 )
1997
24
Genetic heterogeneity in acatalasemia. ( 8874054 )
1996
25
A novel human catalase mutation (358 T-->del) causing Japanese-type acatalasemia. ( 8673475 )
1995
26
Hungarian hereditary acatalasemia and hypocatalasemia are not associated with chronic hemolysis. ( 7758204 )
1995
27
Pseudo infantile Refsum's disease: catalase-deficient peroxisomal particles with partial deficiency of plasmalogen synthesis and oxidation of fatty acids. ( 7510868 )
1993
28
Further characterization of Hungarian acatalasemia by Hinf1 polymorphism of catalase gene. ( 7916241 )
1993
29
Increased formation of 8-hydroxydeoxyguanosine, an oxidative DNA damage, in lymphoblasts from Fanconi's anemia patients due to possible catalase deficiency. ( 8389671 )
1993
30
Immunotitration of the catalase in the blood of Japanese subjects and mice suffering from acatalasemia and hypocatalasemia. ( 1296208 )
1992
31
Two cases of acatalasemia in Hungary. ( 1591863 )
1992
32
Acatalasemia. ( 1999334 )
1991
33
Methemoglobin formation in the blood of Japanese subjects and mice suffering from acatalasemia in response to methemoglobin inducers. ( 2093192 )
1990
34
Thiol and hydrogen peroxide modification of recA induction in UV-irradiated wild-type and catalase-deficient Escherichia coli K12. ( 2155383 )
1990
35
Molecular analysis of human acatalasemia. Identification of a splicing mutation. ( 2308162 )
1990
36
Association of del(11)(p15.1p12), aniridia, catalase deficiency, and cardiomyopathy. ( 6127950 )
1982
37
Activities of catalase in leucocytes and glucose-6-phosphate dehydrogenase in erythrocytes of hypocatalasemia and acatalasemia. ( 918959 )
1977
38
Recovery of catalase activity after inhibition with aminotriazole in acatalasemia mice. ( 1154374 )
1975
39
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:

37 (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 6, show less)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.37 CAT MT-CYB
2 response to hypoxia GO:0001666 9.32 CAT MT-CYB
3 response to ethanol GO:0045471 9.26 CAT MT-CYB
4 response to toxic substance GO:0009636 9.16 CAT MT-CYB
5 response to cadmium ion GO:0046686 8.96 CAT MT-CYB
6 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
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....